Id|IGL Id|Chromosome|Coordinate (Assembly version: GRCm38)|Amino Acid Change|Polyphen Score|Polyphen Prediction|MGI accession Id|Gene Name|Gene Description|Zygosity|Phenotype|Ref Base|Var Base|Read Depth|Median Base Quality|Snp Exon Type|Availability
757798|IGL00088|7|42012064|T->S|0.33|Benign|MGI:3643747|Vmn2r59|vomeronasal 2, receptor 59 [Source:MGI Symbol;Acc:MGI:3643747]|Heterozygous||T|A|589|36.0|Non-synonymous|Line Propagating
757799|IGL00088|7|10169096|H->Q|1.0|Probably damaging|MGI:3695443|Vmn2r52|vomeronasal 2, receptor 52 [Source:MGI Symbol;Acc:MGI:3695443]|Heterozygous||G|T|442|39.0|Non-synonymous|Line Propagating
757800|IGL00088|7|84916370|M->K|0.8|Possibly damaging|MGI:3030124|Olfr290|olfactory receptor 290 [Source:MGI Symbol;Acc:MGI:3030124]|Heterozygous||T|A|395|39.0|Non-synonymous|Line Propagating
757801|IGL00088|1|120341670|G->C|1.0|Probably damaging|MGI:3032521|C1ql2|complement component 1, q subcomponent-like 2 [Source:MGI Symbol;Acc:MGI:3032521]|Heterozygous||G|T|295|37.0|Non-synonymous|Line Propagating
757802|IGL00088|13|100098510|Y->C|0.04|Benign|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||T|C|282|36.0|Non-synonymous|Line Propagating
757804|IGL00088|8|105703201|C->S||Benign|MGI:1927223|Pard6a|par-6 (partitioning defective 6,) homolog alpha (C. elegans) [Source:MGI Symbol;Acc:MGI:1927223]|Heterozygous||T|A|251|35.0|Non-synonymous|Line Propagating
757805|IGL00088|6|113678675|N->Y|0.26|Benign|MGI:2429603|Irak2|interleukin-1 receptor-associated kinase 2 [Source:MGI Symbol;Acc:MGI:2429603]|Heterozygous|Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock.|A|T|205|37.0|Non-synonymous|Line Propagating
757806|IGL00088|13|3643476|V->G|1.0|Probably damaging|MGI:2145525|Asb13|ankyrin repeat and SOCS box-containing 13 [Source:MGI Symbol;Acc:MGI:2145525]|Heterozygous||T|G|198|36.0|Non-synonymous|Line Propagating
757807|IGL00088|8|25897856|C->Y||N/A|MGI:1202300|Kcnu1|potassium channel, subfamily U, member 1 [Source:MGI Symbol;Acc:MGI:1202300]|Heterozygous|Homozygous male mutants are infertile with impaird sperm capacitation.|G|A|180|38.5|Non-synonymous|Line Propagating
757808|IGL00088|2|52308747|I->T||Benign|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|G|179|39.0|Non-synonymous|Line Propagating
757810|IGL00088|6|40491340|I->F|0.01|Benign|MGI:3606604|Tas2r137|taste receptor, type 2, member 137 [Source:MGI Symbol;Acc:MGI:3606604]|Heterozygous||A|T|157|38.0|Non-synonymous|Line Propagating
757811|IGL00088|4|144362530|H->Q|0.38|Benign|MGI:3651680|Gm13119|predicted gene 13119 [Source:MGI Symbol;Acc:MGI:3651680]|Heterozygous||T|A|155|39.0|Non-synonymous|Line Propagating
757812|IGL00088|13|59816698|E->G|1.0|Probably damaging|MGI:2387179|Zcchc6|zinc finger, CCHC domain containing 6 [Source:MGI Symbol;Acc:MGI:2387179]|Heterozygous||T|C|148|37.0|Non-synonymous|Line Propagating
757814|IGL00088|16|58915850|E->K|0.1|Benign|MGI:3030014|Olfr180|olfactory receptor 180 [Source:MGI Symbol;Acc:MGI:3030014]|Heterozygous||C|T|148|39.0|Non-synonymous|Line Propagating
757815|IGL00088|2|65764440|I->V||Benign|MGI:98248|Scn2a1|sodium channel, voltage-gated, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:98248]|Heterozygous|Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.|A|G|135|37.0|Non-synonymous|Line Propagating
757816|IGL00088|7|29705404|S->P|0.9|Possibly damaging|MGI:1923968|Catsperg2|cation channel, sperm-associated, gamma 2 [Source:MGI Symbol;Acc:MGI:1923968]|Heterozygous||A|G|132|38.0|Non-synonymous|Line Propagating
757817|IGL00088|9|54401704|D->G||Benign|MGI:2444630|Dmxl2|Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630]|Heterozygous||T|C|131|39.0|Non-synonymous|Line Propagating
757819|IGL00088|15|71450494|L->P|1.0|Probably damaging|MGI:1917613|Fam135b|family with sequence similarity 135, member B [Source:MGI Symbol;Acc:MGI:1917613]|Heterozygous||A|G|125|38.0|Non-synonymous|Line Propagating
757820|IGL00088|9|108814969|V->I|0.97|Probably damaging|MGI:1931834|Nckipsd|NCK interacting protein with SH3 domain [Source:MGI Symbol;Acc:MGI:1931834]|Heterozygous|Mice homozygous for a null mutation exhibit altered protein composition of postsynaptic densities and actin cytoskeleton in hippocampal neurons.|G|A|124|37.0|Non-synonymous|Line Propagating
757822|IGL00088|2|145918468|D->N|1.0|Probably damaging|MGI:1914127|Crnkl1|Crn, crooked neck-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1914127]|Heterozygous||C|T|119|37.0|Non-synonymous|Line Propagating
757823|IGL00088|4|88629070|K->N|0.22|Benign|MGI:2140706|C87499|expressed sequence C87499 [Source:MGI Symbol;Acc:MGI:2140706]|Heterozygous||T|A|117|39.0|Non-synonymous|Line Propagating
757827|IGL00088|10|58292680|H->Y|0.45|Possibly damaging|MGI:1917547|Gcc2|GRIP and coiled-coil domain containing 2 [Source:MGI Symbol;Acc:MGI:1917547]|Heterozygous||C|T|108|37.0|Non-synonymous|Line Propagating
757829|IGL00088|7|45127071|R->L|0.59|Possibly damaging|MGI:1351455|Rpl13a|ribosomal protein L13A [Source:MGI Symbol;Acc:MGI:1351455]|Heterozygous||C|A|101|37.0|Non-synonymous|Line Propagating
757831|IGL00088|9|107970550|R->W|1.0|Probably damaging|MGI:1096377|Traip|TRAF-interacting protein [Source:MGI Symbol;Acc:MGI:1096377]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality at prior to E8.5, embryonic growth retardation, decreased embryonic size, decreased cell proliferation and increased apoptosis.|C|T|96|36.0|Non-synonymous|Line Propagating
757833|IGL00088|15|76707336|A->T|0.93|Possibly damaging|MGI:1931028|Recql4|RecQ protein-like 4 [Source:MGI Symbol;Acc:MGI:1931028]|Heterozygous||C|T|95|38.0|Non-synonymous|Line Propagating
757834|IGL00088|19|10052299|D->V|0.98|Probably damaging|MGI:1928740|Fads3|fatty acid desaturase 3 [Source:MGI Symbol;Acc:MGI:1928740]|Heterozygous||A|T|94|37.0|Non-synonymous|Line Propagating
757835|IGL00088|5|143717142|S->P||Benign|MGI:1924050|Usp42|ubiquitin specific peptidase 42 [Source:MGI Symbol;Acc:MGI:1924050]|Heterozygous||A|G|87|36.0|Non-synonymous|Line Propagating
757836|IGL00088|7|27155298|M->L||Benign|MGI:2686296|Cyp2t4|cytochrome P450, family 2, subfamily t, polypeptide 4 [Source:MGI Symbol;Acc:MGI:2686296]|Heterozygous||A|T|87|35.0|Non-synonymous|Line Propagating
757837|IGL00088|11|82889746|D->G|0.11|Benign|MGI:1261809|Rad51l3|RAD51-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1261809]|Heterozygous|Mice homozygous for disruptions in this gene die as embryos before E11.5.|T|C|86|32.0|Non-synonymous|Line Propagating
757838|IGL00088|12|5024593|R->G|1.0|Probably damaging|MGI:2444798|Atad2b|ATPase family, AAA domain containing 2B [Source:MGI Symbol;Acc:MGI:2444798]|Heterozygous||A|G|86|39.0|Non-synonymous|Line Propagating
757839|IGL00088|4|108178911|I->T|1.0|Probably damaging|MGI:1289238|Echdc2|enoyl Coenzyme A hydratase domain containing 2 [Source:MGI Symbol;Acc:MGI:1289238]|Heterozygous||T|C|86|38.0|Non-synonymous|Line Propagating
757840|IGL00088|14|60242577|I->L||Benign|MGI:1919094|Nupl1|nucleoporin like 1 [Source:MGI Symbol;Acc:MGI:1919094]|Heterozygous||T|A|84|38.0|Non-synonymous|Line Propagating
757841|IGL00088|3|51438405|V->D|1.0|Probably damaging|MGI:1922088|Naa15|N(alpha)-acetyltransferase 15, NatA auxiliary subunit [Source:MGI Symbol;Acc:MGI:1922088]|Heterozygous||T|A|82|39.0|Non-synonymous|Line Propagating
757843|IGL00088|6|78466779|S->T||Benign|MGI:109406|Reg3g|regenerating islet-derived 3 gamma [Source:MGI Symbol;Acc:MGI:109406]|Heterozygous||A|T|82|37.0|Non-synonymous|Line Propagating
757844|IGL00088|2|69988810|I->L|0.01|Benign|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|A|C|81|39.0|Non-synonymous|Line Propagating
757848|IGL00088|5|124828603|G->S|1.0|Probably damaging|MGI:1860299|Dnahc10|dynein, axonemal, heavy chain 10 [Source:MGI Symbol;Acc:MGI:1860299]|Heterozygous||G|A|75|39.0|Non-synonymous|Line Propagating
757849|IGL00088|11|48845571|N->D|0.97|Probably damaging|MGI:2137353|Trim7|tripartite motif-containing 7 [Source:MGI Symbol;Acc:MGI:2137353]|Heterozygous||A|G|72|37.0|Non-synonymous|Line Propagating
757851|IGL00088|14|61240347|R->Stop||N/A|MGI:1354724, MGI:1346524|Sgcg,sacs|sarcoglycan, gamma (dystrophin-associated glycoprotein) [Source:MGI Symbol;Acc:MGI:1346524],sacsin [Source:MGI Symbol;Acc:MGI:1354724]|Heterozygous|NO_PHENOTYPE,Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy.|T|A|64|39.0|Non-synonymous|Line Propagating
757853|IGL00088|8|11443685|G->V|1.0|Probably damaging|MGI:88455|Col4a2|collagen, type IV, alpha 2 [Source:MGI Symbol;Acc:MGI:88455]|Heterozygous|ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes.|G|T|60|36.0|Non-synonymous|Line Propagating
757855|IGL00088|1|24561306|S->T||Unknown|MGI:1095415|Col19a1|collagen, type XIX, alpha 1 [Source:MGI Symbol;Acc:MGI:1095415]|Heterozygous|Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation.|A|T|50|37.0|Non-synonymous|Line Propagating
757857|IGL00088|19|6939704|V->G|0.98|Probably damaging|MGI:2147529|Gpr137|G protein-coupled receptor 137 [Source:MGI Symbol;Acc:MGI:2147529]|Heterozygous||A|C|48|36.0|Non-synonymous|Line Propagating
757858|IGL00088|11|121116812|F->S|0.81|Possibly damaging|MGI:1918206|Tex19.2|testis expressed gene 19.2 [Source:MGI Symbol;Acc:MGI:1918206]|Heterozygous||A|G|46|37.0|Non-synonymous|Line Propagating
757860|IGL00088|7|79825736|V->A|0.1|Benign|MGI:5000466|Anpep|alanyl (membrane) aminopeptidase [Source:MGI Symbol;Acc:MGI:96749]|Heterozygous||A|G|45|36.0|Non-synonymous|Line Propagating
757864|IGL00088|X|58034499|T->P|0.04|Benign|MGI:106676|Zic3|zinc finger protein of the cerebellum 3 [Source:MGI Symbol;Acc:MGI:106676]|Heterozygous|Mutants show incomplete penetrance varying by genetic background and allele. Phenotypes range from bent tail/skeletal abnormalities to severe defects in embryo turning, cardiac development and neural tube closure resulting in death at embryonic day 18.5|A|C|36|35.5|Non-synonymous|Line Propagating
757865|IGL00088|12|5140705|P->S||Benign|MGI:2683857|Klhl29|kelch-like 29 (Drosophila) [Source:MGI Symbol;Acc:MGI:2683857]|Heterozygous||G|A|30|37.0|Non-synonymous|Line Propagating
757866|IGL00088|4|134358019|K->E|1.0|Probably damaging|MGI:1888742|Extl1|exostoses (multiple)-like 1 [Source:MGI Symbol;Acc:MGI:1888742]|Heterozygous||T|C|28|38.5|Non-synonymous|Line Propagating
757867|IGL00088|16|18249487|V->D||Benign|MGI:96270|Trmt2a|TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:96270]|Heterozygous||T|A|17|33.0|Non-synonymous|Line Propagating
757868|IGL00088|4|40958902|Q->K|0.02|Benign|MGI:1924209|Chmp5|chromatin modifying protein 5 [Source:MGI Symbol;Acc:MGI:1924209]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, cardia bifida, impaired chorioallantoic fusion, abnormal somite and neural plate devlopment, accumulation of multivesicular bodies, and impaired endocytosis.|C|A|10|37.5|Non-synonymous|Line Propagating
757869|IGL00088|1|131270012|Disrupted splicing||N/A|MGI:1929612|Ikbke|inhibitor of kappaB kinase epsilon [Source:MGI Symbol;Acc:MGI:1929612]|Heterozygous|Homozygous null mice are viable and fertile.|A|G|157|36.0|Splice|Line Propagating
757870|IGL00088|9|48591924|Disrupted splicing||N/A|MGI:1099443|Nnmt|nicotinamide N-methyltransferase [Source:MGI Symbol;Acc:MGI:1099443]|Heterozygous||A|T|134|38.0|Splice|Line Propagating
757871|IGL00088|10|128200971|Disrupted splicing||N/A|MGI:2143539|Gls2|glutaminase 2 (liver, mitochondrial) [Source:MGI Symbol;Acc:MGI:2143539]|Heterozygous||A|G|126|38.0|Splice|Line Propagating
757872|IGL00088|18|36665459|Disrupted splicing||N/A|MGI:1270847|Eif4ebp3|eukaryotic translation initiation factor 4E binding protein 3 [Source:MGI Symbol;Acc:MGI:1270847]|Heterozygous||A|G|97|37.0|Splice|Line Propagating
757874|IGL00088|3|86799090|Disrupted splicing||N/A|MGI:1918012|Dclk2|doublecortin-like kinase 2 [Source:MGI Symbol;Acc:MGI:1918012]|Heterozygous||T|A|83|38.0|Splice|Line Propagating
757875|IGL00088|2|36091716|Disrupted splicing||N/A|MGI:1306803|Lhx6|LIM homeobox protein 6 [Source:MGI Symbol;Acc:MGI:1306803]|Heterozygous|Homozygous mutation of this gene results in impaired migration and specification of cortical interneurons, postnatal lethality and weakness.|G|A|59|35.0|Splice|Line Propagating
757877|IGL00088|10|39065595|Disrupted splicing||N/A|MGI:109321|Lama4|laminin, alpha 4 [Source:MGI Symbol;Acc:MGI:109321]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects.|T|C|57|38.0|Splice|Line Propagating
757878|IGL00088|15|99636122|Disrupted splicing||N/A|MGI:1349423|Racgap1|Rac GTPase-activating protein 1 [Source:MGI Symbol;Acc:MGI:1349423]|Heterozygous|Embryos homozygous for a gene-trapped allele exhibit pre-implantation lethality associated with the formation of multinucleated blastomeres and failure to complete cytokinesis.|T|C|52|37.0|Splice|Line Propagating
757879|IGL00088|11|73073529|Disrupted splicing||N/A|MGI:1914124|1200014j11rik|RIKEN cDNA 1200014J11 gene [Source:MGI Symbol;Acc:MGI:1914124]|Heterozygous||A|T|38|37.5|Splice|Line Propagating
758615|IGL00089|15|101947510|T->I|0.96|Probably damaging|MGI:1917529|Krt78|keratin 78 [Source:MGI Symbol;Acc:MGI:1917529]|Heterozygous||G|A|504|35.0|Non-synonymous|Line Propagating
758617|IGL00089|7|41864430|K->M|0.26|Benign|MGI:3647877|Vmn2r58|vomeronasal 2, receptor 58 [Source:MGI Symbol;Acc:MGI:3647877]|Heterozygous||T|A|305|39.0|Non-synonymous|Line Propagating
758619|IGL00089|2|112156067|M->L||Benign|MGI:3031152|Olfr1318|olfactory receptor 1318 [Source:MGI Symbol;Acc:MGI:3031152]|Heterozygous||A|T|227|39.0|Non-synonymous|Line Propagating
758620|IGL00089|4|98465106|F->L|0.99|Probably damaging|MGI:1277960|Inadl|InaD-like (Drosophila) [Source:MGI Symbol;Acc:MGI:1277960]|Heterozygous||T|C|220|36.0|Non-synonymous|Line Propagating
758621|IGL00089|11|70513598|N->K|1.0|Probably damaging|MGI:2685587|Vmo1|vitelline membrane outer layer 1 homolog (chicken) [Source:MGI Symbol;Acc:MGI:2685587]|Heterozygous||A|T|200|36.5|Non-synonymous|Line Propagating
758622|IGL00089|2|88958766|I->N|0.87|Possibly damaging|MGI:3031046|Olfr1212|olfactory receptor 1212 [Source:MGI Symbol;Acc:MGI:3031046]|Heterozygous||T|A|189|39.0|Non-synonymous|Line Propagating
758624|IGL00089|1|6802572|D->G||Benign|MGI:2446700|St18|suppression of tumorigenicity 18 [Source:MGI Symbol;Acc:MGI:2446700]|Heterozygous||A|G|186|37.0|Non-synonymous|Line Propagating
758625|IGL00089|18|36998502|F->S||N/A|MGI:2150982|Pcdha1|protocadherin alpha 1 [Source:MGI Symbol;Acc:MGI:2150982]|Heterozygous|Mice homozygous for a null allele are viable and fertile.|T|C|170|39.0|Non-synonymous|Line Propagating
758626|IGL00089|9|114330540|Stop->Q||N/A|MGI:1278327|Bcl2a1c|B-cell leukemia/lymphoma 2 related protein A1c [Source:MGI Symbol;Acc:MGI:1278327]|Heterozygous||T|C|165|39.0|Non-synonymous|Line Propagating
758627|IGL00089|6|112329808|I->V|0.66|Possibly damaging|MGI:1353635|Lmcd1|LIM and cysteine-rich domains 1 [Source:MGI Symbol;Acc:MGI:1353635]|Heterozygous||A|G|162|37.0|Non-synonymous|Line Propagating
758628|IGL00089|5|135786284|Y->H|0.99|Probably damaging|MGI:97050|Mdh2|malate dehydrogenase 2, NAD (mitochondrial) [Source:MGI Symbol;Acc:MGI:97050]|Heterozygous||T|C|159|37.0|Non-synonymous|Line Propagating
758629|IGL00089|17|21229598|T->I|1.0|Probably damaging|MGI:2159635|Vmn1r234|vomeronasal 1 receptor 234 [Source:MGI Symbol;Acc:MGI:2159635]|Heterozygous||C|T|156|39.0|Non-synonymous|Line Propagating
758630|IGL00089|10|129965804|R->W|1.0|Probably damaging|MGI:3030653|Olfr819|olfactory receptor 819 [Source:MGI Symbol;Acc:MGI:3030653]|Heterozygous||T|A|153|39.0|Non-synonymous|Line Propagating
758632|IGL00089|3|35809376|D->G|1.0|Probably damaging|MGI:1923545|Atp11b|ATPase, class VI, type 11B [Source:MGI Symbol;Acc:MGI:1923545]|Heterozygous||A|G|143|38.0|Non-synonymous|Line Propagating
758633|IGL00089|11|23496837|E->G|1.0|Probably damaging|MGI:1916133|Ahsa2|AHA1, activator of heat shock protein ATPase homolog 2 (yeast) [Source:MGI Symbol;Acc:MGI:1916133]|Heterozygous||T|C|141|36.0|Non-synonymous|Line Propagating
758634|IGL00089|15|101476515|M->K|0.62|Possibly damaging|MGI:109362|Krt86|keratin 86 [Source:MGI Symbol;Acc:MGI:109362]|Heterozygous||T|A|139|36.0|Non-synonymous|Line Propagating
758635|IGL00089|3|32519753|C->G|0.92|Possibly damaging|MGI:1915028|Zfp639|zinc finger protein 639 [Source:MGI Symbol;Acc:MGI:1915028]|Heterozygous||T|G|137|38.0|Non-synonymous|Line Propagating
758636|IGL00089|7|79841986|L->Q|1.0|Probably damaging|MGI:5000466|Anpep|alanyl (membrane) aminopeptidase [Source:MGI Symbol;Acc:MGI:96749]|Heterozygous||A|T|134|36.0|Non-synonymous|Line Propagating
758640|IGL00089|2|52416071|N->S|0.65|Possibly damaging|MGI:1922673|Arl5a|ADP-ribosylation factor-like 5A [Source:MGI Symbol;Acc:MGI:1922673]|Heterozygous||T|C|128|39.0|Non-synonymous|Line Propagating
758642|IGL00089|10|128733086|D->E|0.02|Benign|MGI:102952|Dgka|diacylglycerol kinase, alpha [Source:MGI Symbol;Acc:MGI:102952]|Heterozygous|Homozygous mutation of this gene results in impaired induction of T cell anergy. T cells stimulated in anergy producing conditions show increased proliferation and interleukin 2 production.|A|T|122|36.0|Non-synonymous|Line Propagating
758643|IGL00089|16|14460983|N->K|0.11|Benign|MGI:102676|Abcc1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [Source:MGI Symbol;Acc:MGI:102676]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.|T|A|122|37.0|Non-synonymous|Line Propagating
758644|IGL00089|17|34284530|H->R|1.0|Probably damaging|MGI:95895|H2-aa|histocompatibility 2, class II antigen A, alpha [Source:MGI Symbol;Acc:MGI:95895]|Heterozygous||T|C|121|39.0|Non-synonymous|Line Propagating
758645|IGL00089|15|73567133|S->A|0.04|Benign|MGI:2146009|Dennd3|DENN/MADD domain containing 3 [Source:MGI Symbol;Acc:MGI:2146009]|Heterozygous||T|G|111|37.0|Non-synonymous|Line Propagating
758647|IGL00089|2|38243442|Y->Stop||N/A|MGI:2442794|Dennd1a|DENN/MADD domain containing 1A [Source:MGI Symbol;Acc:MGI:2442794]|Heterozygous||A|T|109|38.0|Non-synonymous|Line Propagating
758650|IGL00089|13|60761040|I->F|0.17|Benign|MGI:1916885|Dapk1|death associated protein kinase 1 [Source:MGI Symbol;Acc:MGI:1916885]|Heterozygous|Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury.|A|T|105|35.0|Non-synonymous|Line Propagating
758651|IGL00089|7|118722424|C->F|0.89|Possibly damaging|MGI:2141942|6330503k22rik|RIKEN cDNA 6330503K22 gene [Source:MGI Symbol;Acc:MGI:2141942]|Heterozygous||G|T|105|37.0|Non-synonymous|Line Propagating
758653|IGL00089|15|37984036|F->Y|0.44|Possibly damaging|MGI:1918040|Ubr5|ubiquitin protein ligase E3 component n-recognin 5 [Source:MGI Symbol;Acc:MGI:1918040]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis.|A|T|101|37.0|Non-synonymous|Line Propagating
758655|IGL00089|7|128135326|M->R|1.0|Probably damaging|MGI:96609|Itgax|integrin alpha X [Source:MGI Symbol;Acc:MGI:96609]|Heterozygous|Mice homozygous for a targeted allele exhibit increased T cell proliferation, increased susceptibility to bacterial infection, and decreased susceptibility to EAE.|T|G|99|37.0|Non-synonymous|Line Propagating
758656|IGL00089|1|170927498|C->S||Benign|MGI:2138647|Fcrla|Fc receptor-like A [Source:MGI Symbol;Acc:MGI:2138647]|Heterozygous|Mice homozygous for a targeted allele exhibit largely normal T-dependent and T-independent antibody responses with an increase in IgG1 after secondary challenge with sheep red blood cells.|A|T|98|38.0|Non-synonymous|Line Propagating
758657|IGL00089|2|181229702|R->S|0.97|Probably damaging|MGI:2385169|Bc006779|cDNA sequence BC006779 [Source:MGI Symbol;Acc:MGI:2385169]|Heterozygous||G|T|95|36.0|Non-synonymous|Line Propagating
758658|IGL00089|8|8660589|D->G||Benign|MGI:105097|Efnb2|ephrin B2 [Source:MGI Symbol;Acc:MGI:105097]|Heterozygous|Homozygotes for targeted null mutations exhibit defects in angiogenesis of both arteries and veins and die by embryonic day 11.5.|T|C|95|32.0|Non-synonymous|Line Propagating
758659|IGL00089|8|111319428|R->Stop||N/A|MGI:1921818|Mlkl|mixed lineage kinase domain-like [Source:MGI Symbol;Acc:MGI:1921818]|Heterozygous||T|A|94|38.0|Non-synonymous|Line Propagating
758661|IGL00089|7|46775938|I->N|0.99|Probably damaging|MGI:2180307|Hps5|Hermansky-Pudlak syndrome 5 homolog (human) [Source:MGI Symbol;Acc:MGI:2180307]|Heterozygous|Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis.|A|T|93|39.0|Non-synonymous|Line Propagating
758662|IGL00089|4|137528820|G->R|1.0|Probably damaging|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|G|A|91|36.0|Non-synonymous|Line Propagating
758663|IGL00089|6|88893401|M->L|0.02|Benign|MGI:96936|Mcm2|minichromosome maintenance deficient 2 mitotin (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105380]|Heterozygous|Mice homozygous for non functional alleles at this locus die prematurely. There is an increased tumor incidence and abnormalities in a variety of systems in mice as they become moribund.|T|A|91|34.0|Non-synonymous|Line Propagating
758664|IGL00089|10|7762804|M->K|1.0|Probably damaging|MGI:1344353|Katna1|katanin p60 (ATPase-containing) subunit A1 [Source:MGI Symbol;Acc:MGI:1344353]|Heterozygous||T|A|90|39.0|Non-synonymous|Line Propagating
758665|IGL00089|2|107295862|S->A|0.96|Probably damaging|MGI:96661|Kcna4|potassium voltage-gated channel, shaker-related subfamily, member 4 [Source:MGI Symbol;Acc:MGI:96661]|Heterozygous||T|G|90|37.0|Non-synonymous|Line Propagating
758667|IGL00089|8|84835895|F->L|0.97|Probably damaging|MGI:105126|Rad23a|RAD23a homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105126]|Heterozygous|Mice with a targeted disruption of this gene show no obvious phenotype.|A|G|88|37.0|Non-synonymous|Line Propagating
758669|IGL00089|2|27005361|Q->K|0.16|Benign|MGI:2685556|Adamts13|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 [Source:MGI Symbol;Acc:MGI:2685556]|Heterozygous||C|A|86|36.5|Non-synonymous|Line Propagating
758670|IGL00089|11|40736586|D->G|0.99|Probably damaging|MGI:1277103|Nudcd2|NudC domain containing 2 [Source:MGI Symbol;Acc:MGI:1277103]|Heterozygous||A|G|85|36.0|Non-synonymous|Line Propagating
758672|IGL00089|14|64669693|T->I|0.29|Benign|MGI:1098265|Kif13b|kinesin family member 13B [Source:MGI Symbol;Acc:MGI:1098265]|Heterozygous||C|T|83|39.0|Non-synonymous|Line Propagating
758673|IGL00089|5|52166775|L->I|0.93|Possibly damaging|MGI:1099786|Dhx15|DEAH (Asp-Glu-Ala-His) box polypeptide 15 [Source:MGI Symbol;Acc:MGI:1099786]|Heterozygous||G|T|81|35.0|Non-synonymous|Line Propagating
758676|IGL00089|8|110145671|L->Q|1.0|Probably damaging|MGI:101914|Calb2|calbindin 2 [Source:MGI Symbol;Acc:MGI:101914]|Heterozygous|Homozygous targeted mutants showed normal growth, normal brain histology, and generally normal behavior. Impaired motor coordination was observed in wheel running in young and old mutant mice, and progressive impairment was seen on the runway and horizontal stationary rod tests in older mice. Abnormalities are observed in Purkinje cell firing, altering both simple and complex spikes.|A|T|74|36.0|Non-synonymous|Line Propagating
758677|IGL00089|9|89601800|V->I||Benign|MGI:2667167|Af529169|cDNA sequence AF529169 [Source:MGI Symbol;Acc:MGI:2667167]|Heterozygous||C|T|71|37.0|Non-synonymous|Line Propagating
758678|IGL00089|3|3648082|T->A||Benign|MGI:1353604|Hnf4g|hepatocyte nuclear factor 4, gamma [Source:MGI Symbol;Acc:MGI:1353604]|Heterozygous|Mice homozygous for a knock-out allele are less inclined to build nests, spend more time in a passive state during the forced swim test, and display a reduction in energy expenditure and night time activity that results in increased body weight despite a decreased intake of food and water.|A|G|70|37.0|Non-synonymous|Line Propagating
758679|IGL00089|1|125872731|R->S|0.01|Benign|MGI:1918361|Gpr39|G protein-coupled receptor 39 [Source:MGI Symbol;Acc:MGI:1918361]|Heterozygous|Mice homozygous for a null mutation display abnormal glucose homeostasis when fed a high sugar diet. Mice homozygous for a different null allele have accelerated gastric emptying, decreased fasting-induced hyperphagia, and increasedbody weight after one year of age.|A|C|63|39.0|Non-synonymous|Line Propagating
758680|IGL00089|13|32816329|N->D|1.0|Probably damaging|MGI:1926153|Wrnip1|Werner helicase interacting protein 1 [Source:MGI Symbol;Acc:MGI:1926153]|Heterozygous||A|G|62|37.0|Non-synonymous|Line Propagating
758681|IGL00089|1|71303541|I->F|0.85|Possibly damaging|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|A|61|37.0|Non-synonymous|Line Propagating
758682|IGL00089|17|24895370|L->P|1.0|Probably damaging|MGI:1930188|Mrps34|mitochondrial ribosomal protein S34 [Source:MGI Symbol;Acc:MGI:1930188]|Heterozygous||T|C|61|33.0|Non-synonymous|Line Propagating
758683|IGL00089|6|143017945|I->V|0.01|Benign|MGI:1921991|5730419i09rik|RIKEN cDNA 5730419I09 gene [Source:MGI Symbol;Acc:MGI:1921991]|Heterozygous||T|C|59|39.0|Non-synonymous|Line Propagating
758684|IGL00089|5|124746616|D->G|0.13|Benign|MGI:1860299|Dnahc10|dynein, axonemal, heavy chain 10 [Source:MGI Symbol;Acc:MGI:1860299]|Heterozygous||A|G|58|36.0|Non-synonymous|Line Propagating
758685|IGL00089|11|77847938|E->G|1.0|Probably damaging|MGI:2667185|Myo18a|myosin XVIIIA [Source:MGI Symbol;Acc:MGI:2667185]|Heterozygous||A|G|57|36.0|Non-synonymous|Line Propagating
758686|IGL00089|8|88705457|C->S|0.12|Benign|MGI:1921506|Cyld|cylindromatosis (turban tumor syndrome) [Source:MGI Symbol;Acc:MGI:1921506]|Heterozygous|Mice homozygous for a targeted deletion of exon 9 display short, kinky tails and neonatal lethality associated with cyanosis, atelectasis, unexpanded lung saccules and hyperplastic mesenchyme. Mice homozygous for a targeted deletion of exons 7 and 8 exhibit abnormal B cell morphology and physiology.|T|A|56|39.0|Non-synonymous|Line Propagating
758687|IGL00089|17|53833119|Y->Stop||N/A|MGI:1916333|Sult1c2|sulfotransferase family, cytosolic, 1C, member 2 [Source:MGI Symbol;Acc:MGI:1916333]|Heterozygous||A|C|55|38.0|Non-synonymous|Line Propagating
758689|IGL00089|6|38608170|F->S||Unknown|MGI:2183260|Luc7l2|LUC7-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2183260]|Heterozygous||T|C|53|39.0|Non-synonymous|Line Propagating
758690|IGL00089|14|20987003|I->T||Benign|MGI:98927|Vcl|vinculin [Source:MGI Symbol;Acc:MGI:98927]|Heterozygous|Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart.|T|C|52|39.0|Non-synonymous|Line Propagating
758691|IGL00089|7|107192502|L->P|0.91|Possibly damaging|MGI:1924108|Nlrp14|NLR family, pyrin domain containing 14 [Source:MGI Symbol;Acc:MGI:1924108]|Heterozygous||T|C|50|37.0|Non-synonymous|Line Propagating
758692|IGL00089|8|3940339|C->S|1.0|Probably damaging|MGI:2157945|Cd209c|CD209c antigen [Source:MGI Symbol;Acc:MGI:2157945]|Heterozygous||A|T|48|37.0|Non-synonymous|Line Propagating
758694|IGL00089|7|16422234|Y->H||Unknown|MGI:2682314|Zc3h4|zinc finger CCCH-type containing 4 [Source:MGI Symbol;Acc:MGI:2682314]|Heterozygous||T|C|41|36.0|Non-synonymous|Line Propagating
758695|IGL00089|4|101815035|R->S||Benign|MGI:104993|Lepr|leptin receptor [Source:MGI Symbol;Acc:MGI:104993]|Heterozygous|Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting.|A|T|40|39.0|Non-synonymous|Line Propagating
758696|IGL00089|9|49421900|I->L|0.5|Possibly damaging|MGI:3045301|Ankk1|ankyrin repeat and kinase domain containing 1 [Source:MGI Symbol;Acc:MGI:3045301]|Heterozygous||T|G|39|37.0|Non-synonymous|Line Propagating
758697|IGL00089|X|71820146|L->F|0.95|Possibly damaging|MGI:1914298|Vma21|VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914298]|Heterozygous||G|T|36|39.0|Non-synonymous|Line Propagating
758698|IGL00089|2|174646285|Y->H|0.9|Possibly damaging|MGI:3641861|Zfp831|zinc finger protein 831 [Source:MGI Symbol;Acc:MGI:3641861]|Heterozygous||T|C|35|38.0|Non-synonymous|Line Propagating
758699|IGL00089|11|110050939|V->A||N/A|MGI:2386846|Abca8a|ATP-binding cassette, sub-family A (ABC1), member 8a [Source:MGI Symbol;Acc:MGI:2386846]|Heterozygous||A|G|26|39.0|Non-synonymous|Line Propagating
758701|IGL00089|8|123209019|Disrupted splicing||N/A|MGI:1920159|Chmp1a|chromatin modifying protein 1A [Source:MGI Symbol;Acc:MGI:1920159]|Heterozygous||A|G|217|37.0|Splice|Line Propagating
758702|IGL00089|5|123989735|Disrupted splicing||N/A|MGI:1352504|Hip1r|huntingtin interacting protein 1 related [Source:MGI Symbol;Acc:MGI:1352504]|Heterozygous|Mice homozygous for disruptions in this gene display no abnormal phenotype.|T|A|178|36.0|Splice|Line Propagating
758703|IGL00089|2|26893069|Disrupted splicing||N/A|MGI:98447|Surf6|surfeit gene 6 [Source:MGI Symbol;Acc:MGI:98447]|Heterozygous||T|A|168|37.0|Splice|Line Propagating
758704|IGL00089|8|124876914|Disrupted splicing||N/A|MGI:1343460|Gnpat|glyceronephosphate O-acyltransferase [Source:MGI Symbol;Acc:MGI:1343460]|Heterozygous|Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.|T|C|153|37.0|Splice|Line Propagating
758706|IGL00089|7|34245987|Disrupted splicing||N/A|MGI:1924311|4931406p16rik|RIKEN cDNA 4931406P16 gene [Source:MGI Symbol;Acc:MGI:1924311]|Heterozygous||A|T|59|36.0|Splice|Line Propagating
758707|IGL00089|5|45506169|Disrupted splicing||N/A|MGI:1914238|Lap3|leucine aminopeptidase 3 [Source:MGI Symbol;Acc:MGI:1914238]|Heterozygous|Mice homozygous for a knock-out allele are viable and developmentally normal with no detectable abnormalities in generating peptides presented by MHC class I under constitutive conditions or after stimulation with IFN.|A|G|54|36.0|Splice|Line Propagating
758708|IGL00089|9|105758191|Disrupted splicing||N/A|MGI:2444259|Col6a6|collagen, type VI, alpha 6 [Source:MGI Symbol;Acc:MGI:2444259]|Heterozygous||T|A|36|37.0|Splice|Line Propagating
758709|IGL00089|17|55791915|Disrupted splicing||N/A|MGI:1196464|Emr4|EGF-like module containing, mucin-like, hormone receptor-like sequence 4 [Source:MGI Symbol;Acc:MGI:1196464]|Heterozygous||A|T|35|38.0|Splice|Line Propagating
758710|IGL00089|14|31504526|Disrupted splicing||N/A|MGI:1921677|Eaf1|ELL associated factor 1 [Source:MGI Symbol;Acc:MGI:1921677]|Heterozygous||T|A|25|37.0|Splice|Line Propagating
758711|IGL00089|12|80870067|Disrupted splicing||N/A|MGI:2444661|4933426m11rik|RIKEN cDNA 4933426M11 gene [Source:MGI Symbol;Acc:MGI:2444661]|Heterozygous||T|G|24|37.0|Splice|Line Propagating
758712|IGL00089|12|55722773|Disrupted splicing||N/A|MGI:1931050|Ralgapa1|Ral GTPase activating protein, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:1931050]|Heterozygous||C|A|18|37.0|Splice|Line Propagating
759424|IGL00090|9|75161497|C->Stop||N/A|MGI:105976|Myo5a|myosin VA [Source:MGI Symbol;Acc:MGI:105976]|Heterozygous|Mutations in this gene cause abnormal melanocyte structure, resulting in clumping of melanin pigment in hair of nonagouti mice, producing a gray coat color. Some alleles also produce a lethal or neurological phenotype. Normal melanocyte structure and coat phenotype is restored in revertant alleles.|T|A|339|39.0|Non-synonymous|Line Propagating
759425|IGL00090|11|102776831|T->A|0.71|Possibly damaging|MGI:1098667|Adam11|a disintegrin and metallopeptidase domain 11 [Source:MGI Symbol;Acc:MGI:1098667]|Heterozygous|Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.|A|G|308|35.0|Non-synonymous|Line Propagating
759429|IGL00090|11|59613321|Y->F|1.0|Probably damaging|MGI:3030059|Olfr225|olfactory receptor 225 [Source:MGI Symbol;Acc:MGI:3030059]|Heterozygous||A|T|132|36.0|Non-synonymous|Line Propagating
759431|IGL00090|2|114195932|V->A|0.06|Benign|MGI:2445100|Zfp770|zinc finger protein 770 [Source:MGI Symbol;Acc:MGI:2445100]|Heterozygous||A|G|116|37.0|Non-synonymous|Line Propagating
759432|IGL00090|5|138248834|D->G||Benign|MGI:3584036|Bc055004|cDNA sequence BC055004 [Source:MGI Symbol;Acc:MGI:3584036]|Heterozygous||A|G|103|34.0|Non-synonymous|Line Propagating
759433|IGL00090|1|165902298|R->S||Unknown|MGI:101898|Pou2f1|POU domain, class 2, transcription factor 1 [Source:MGI Symbol;Acc:MGI:101898]|Heterozygous|Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size.|G|T|102|34.0|Non-synonymous|Line Propagating
759435|IGL00090|14|31287873|S->P||Benign|MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|A|G|96|37.0|Non-synonymous|Line Propagating
759437|IGL00090|15|97019809|E->K||Benign|MGI:1916604|Slc38a4|solute carrier family 38, member 4 [Source:MGI Symbol;Acc:MGI:1916604]|Heterozygous||C|T|91|37.0|Non-synonymous|Line Propagating
759438|IGL00090|3|117322220|T->S||Benign|MGI:106530|D3bwg0562e|DNA segment, Chr 3, Brigham & Women's Genetics 0562 expressed [Source:MGI Symbol;Acc:MGI:106530]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight, seizures, hyperexcitability of evoked fEPSP, and premature lethality around 3 weeks of age.|T|A|91|36.0|Non-synonymous|Line Propagating
759439|IGL00090|4|149125295|F->S|1.0|Probably damaging|MGI:109538|Cort|cortistatin [Source:MGI Symbol;Acc:MGI:109538]|Heterozygous|Mice homozygous for a knock-in allele are viable and fertile with no apparent physical or behavioral abnormalities.|A|G|89|37.0|Non-synonymous|Line Propagating
759440|IGL00090|2|104471179|V->L|1.0|Probably damaging|MGI:1314882|Hipk3|homeodomain interacting protein kinase 3 [Source:MGI Symbol;Acc:MGI:1314882]|Heterozygous||C|A|86|33.0|Non-synonymous|Line Propagating
759443|IGL00090|4|118869287|Y->N|0.99|Probably damaging|MGI:3031165|Olfr1331|olfactory receptor 1331 [Source:MGI Symbol;Acc:MGI:3031165]|Heterozygous||T|A|85|39.0|Non-synonymous|Line Propagating
759444|IGL00090|17|32914566|D->E|0.04|Benign|MGI:1927669|Cyp4f14|cytochrome P450, family 4, subfamily f, polypeptide 14 [Source:MGI Symbol;Acc:MGI:1927669]|Heterozygous||G|T|84|37.0|Non-synonymous|Line Propagating
759445|IGL00090|1|171593451|I->N|1.0|Probably damaging|MGI:96885|Ly9|lymphocyte antigen 9 [Source:MGI Symbol;Acc:MGI:96885]|Heterozygous|This locus controls an antigen on thymocytes, lymphocytes and bone marrow cells. The a allele determines Ly9.1 antigen in A/J, 129/Re, BALB/c and C3H/He; the b allele determines antigen Ly9.2 in the C57 family of strains, HTI/Go, MA/My, F/St and C58/Lw. Null mutants are viable, healthy and fertile.|A|T|79|36.0|Non-synonymous|Line Propagating
759446|IGL00090|9|37411104|S->G|0.95|Possibly damaging|MGI:1921394|Robo4|roundabout homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921394]|Heterozygous||A|G|79|37.0|Non-synonymous|Line Propagating
759447|IGL00090|11|29222875|V->M||Benign|MGI:1913994|Ccdc104|coiled-coil domain containing 104 [Source:MGI Symbol;Acc:MGI:1913994]|Heterozygous||C|T|78|38.0|Non-synonymous|Line Propagating
759452|IGL00090|3|144836632|N->D|0.82|Possibly damaging|MGI:2181989|Clca4|chloride channel calcium activated 4 [Source:MGI Symbol;Acc:MGI:2181989]|Heterozygous||T|C|68|37.5|Non-synonymous|Line Propagating
759453|IGL00090|6|118404583|S->T|0.01|Benign|MGI:2446132|Bms1|BMS1 homolog, ribosome assembly protein (yeast) [Source:MGI Symbol;Acc:MGI:2446132]|Heterozygous||A|T|63|36.0|Non-synonymous|Line Propagating
759455|IGL00090|16|38542916|W->L|1.0|Probably damaging|MGI:2444232|Poglut1|protein O-glucosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2444232]|Heterozygous||C|A|61|39.0|Non-synonymous|Line Propagating
759456|IGL00090|8|70132629|Y->C|1.0|Probably damaging|MGI:1922942|Nr2c2ap|nuclear receptor 2C2-associated protein [Source:MGI Symbol;Acc:MGI:1922942]|Heterozygous||A|G|60|35.0|Non-synonymous|Line Propagating
759457|IGL00090|15|58430735|H->L|0.83|Possibly damaging|MGI:1277178|D15ertd621e|DNA segment, Chr 15, ERATO Doi 621, expressed [Source:MGI Symbol;Acc:MGI:1277178]|Heterozygous||A|T|59|39.0|Non-synonymous|Line Propagating
759463|IGL00090|17|57450055|I->V||Benign|MGI:106912|Emr1|EGF-like module containing, mucin-like, hormone receptor-like sequence 1 [Source:MGI Symbol;Acc:MGI:106912]|Heterozygous|Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development.|A|G|51|37.0|Non-synonymous|Line Propagating
759464|IGL00090|11|108395834|D->G||Benign|MGI:88058|Apoh|apolipoprotein H [Source:MGI Symbol;Acc:MGI:88058]|Heterozygous|Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.|A|G|50|37.0|Non-synonymous|Line Propagating
759465|IGL00090|2|125324947|I->M|1.0|Probably damaging|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|A|C|49|39.0|Non-synonymous|Line Propagating
759466|IGL00090|9|48474447|S->P|0.98|Probably damaging|MGI:1888981|Rexo2|REX2, RNA exonuclease 2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1888981]|Heterozygous||A|G|48|36.0|Non-synonymous|Line Propagating
759467|IGL00090|19|4893010|T->A||Benign|MGI:1277215|Bbs1|Bardet-Biedl syndrome 1 (human) [Source:MGI Symbol;Acc:MGI:1277215]|Heterozygous|Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.|T|C|46|35.5|Non-synonymous|Line Propagating
759468|IGL00090|4|126371541|L->P|0.83|Possibly damaging|MGI:2446634|Eif2c3|eukaryotic translation initiation factor 2C, 3 [Source:MGI Symbol;Acc:MGI:2446634]|Heterozygous||A|G|45|39.0|Non-synonymous|Line Propagating
759471|IGL00090|2|31833874|Q->L|0.72|Possibly damaging|MGI:2138953|Fibcd1|fibrinogen C domain containing 1 [Source:MGI Symbol;Acc:MGI:2138953]|Heterozygous||T|A|44|33.0|Non-synonymous|Line Propagating
759472|IGL00090|17|24823629|V->I||Benign|MGI:1922428|4930528f23rik|RIKEN cDNA 4930528F23 gene [Source:MGI Symbol;Acc:MGI:1922428]|Heterozygous||G|A|43|37.0|Non-synonymous|Line Propagating
759473|IGL00090|11|106568535|V->E||Unknown|MGI:102465|Tex2|testis expressed gene 2 [Source:MGI Symbol;Acc:MGI:102465]|Heterozygous||A|T|42|34.0|Non-synonymous|Line Propagating
759474|IGL00090|12|8790459|T->A|0.6|Possibly damaging|MGI:1349162|Sdc1|syndecan 1 [Source:MGI Symbol;Acc:MGI:1349162]|Heterozygous|Targeted mutant mice are overtly normal but resist mammary tumor development in response to Wnt1, and show delayed cutaneous and corneal wound healing, defective leukocyte adhesion to endothelia, increased angiogenesis, as well as reduced susceptibility to P. aeruginosa lung infection.|A|G|42|32.0|Non-synonymous|Line Propagating
759475|IGL00090|19|38745788|Q->R|1.0|Probably damaging|MGI:1921305|Plce1|phospholipase C, epsilon 1 [Source:MGI Symbol;Acc:MGI:1921305]|Heterozygous|Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.|A|G|41|37.0|Non-synonymous|Line Propagating
759476|IGL00090|6|62380142|T->S|0.6|Possibly damaging|MGI:3045354|Fam190a|family with sequence similarity 190, member A [Source:MGI Symbol;Acc:MGI:3045354]|Heterozygous||A|T|41|37.0|Non-synonymous|Line Propagating
759478|IGL00090|2|131561677|D->E|0.73|Possibly damaging|MGI:106673|Adra1d|adrenergic receptor, alpha 1d [Source:MGI Symbol;Acc:MGI:106673]|Heterozygous|Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration.|G|T|36|37.5|Non-synonymous|Line Propagating
759479|IGL00090|1|173455465|S->G||Benign|MGI:2686159|Aim2|absent in melanoma 2 [Source:MGI Symbol;Acc:MGI:2686159]|Heterozygous||A|G|35|39.0|Non-synonymous|Line Propagating
759482|IGL00090|11|104322485|S->L|0.99|Probably damaging|MGI:97180|Mapt|microtubule-associated protein tau [Source:MGI Symbol;Acc:MGI:97180]|Heterozygous|Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation.|C|T|29|37.0|Non-synonymous|Line Propagating
759484|IGL00090|12|118890610|T->A|0.01|Benign|MGI:1924956|Abcb5|ATP-binding cassette, sub-family B (MDR/TAP), member 5 [Source:MGI Symbol;Acc:MGI:1924956]|Heterozygous||T|C|26|36.5|Non-synonymous|Line Propagating
759485|IGL00090|13|49520634|V->L|0.06|Benign|MGI:3039578, MGI:1913586|Ecm2,cenpp|extracellular matrix protein 2, female organ and adipocyte specific [Source:MGI Symbol;Acc:MGI:3039578],centromere protein P [Source:MGI Symbol;Acc:MGI:1913586]|Heterozygous||G|T|23|30.0|Non-synonymous|Line Propagating
759487|IGL00090|2|133561027|Q->L||Benign|MGI:88177|Bmp2|bone morphogenetic protein 2 [Source:MGI Symbol;Acc:MGI:88177]|Heterozygous|Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity.|A|T|13|39.0|Non-synonymous|Line Propagating
759488|IGL00090|6|142633190|Disrupted splicing||N/A|MGI:1352630|Abcc9|ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:MGI Symbol;Acc:MGI:1352630]|Heterozygous|Mice homozygous for disruptions in this gene display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death starting at 6 weeks of age due to episodic coronary artery vasospasm.|A|T|177|38.0|Splice|Line Propagating
759490|IGL00090|2|66683327|Disrupted splicing||N/A|MGI:102965|Scn7a|sodium channel, voltage-gated, type VII, alpha [Source:MGI Symbol;Acc:MGI:102965]|Heterozygous|Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise.|A|G|134|39.0|Splice|Line Propagating
759491|IGL00090|3|132743093|Disrupted splicing||N/A|MGI:2445052|Tbck|TBC1 domain containing kinase [Source:MGI Symbol;Acc:MGI:2445052]|Heterozygous||T|C|113|36.0|Splice|Line Propagating
759492|IGL00090|10|75157071|Disrupted splicing||N/A|MGI:88141|Bcr|breakpoint cluster region [Source:MGI Symbol;Acc:MGI:88141]|Heterozygous|Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia.|T|C|79|37.0|Splice|Line Propagating
759493|IGL00090|4|118223220|Disrupted splicing||N/A|MGI:102695|Ptprf|protein tyrosine phosphatase, receptor type, F [Source:MGI Symbol;Acc:MGI:102695]|Heterozygous||A|G|54|35.0|Splice|Line Propagating
759494|IGL00090|2|154547568|Disrupted splicing||N/A|MGI:1861721|Necab3|N-terminal EF-hand calcium binding protein 3 [Source:MGI Symbol;Acc:MGI:1861721]|Heterozygous||G|T|44|39.0|Splice|Line Propagating
759496|IGL00090|13|81405408|Disrupted splicing||N/A|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|G|19|37.0|Splice|Line Propagating
760247|IGL00091|5|146001463|Y->Stop||N/A|MGI:1930638|Cyp3a25|cytochrome P450, family 3, subfamily a, polypeptide 25 [Source:MGI Symbol;Acc:MGI:1930638]|Heterozygous||A|T|396|39.0|Non-synonymous|Line Propagating
760248|IGL00091|7|131079540|T->K||Unknown|MGI:106210|Dmbt1|deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]|Heterozygous|Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.|C|A|381|39.0|Non-synonymous|Line Propagating
760250|IGL00091|13|49621038|Y->C|1.0|Probably damaging|MGI:1913586, MGI:109278|Ogn,cenpp|centromere protein P [Source:MGI Symbol;Acc:MGI:1913586],osteoglycin [Source:MGI Symbol;Acc:MGI:109278]|Heterozygous|Mice homozygous for a disruption in this gene display reduced collagen fiber density and organization, as well as more variability in fibrilar diameter in both the skin and the cornea. Corneal clarity was unaffected whereas skin tensile strength was reduced.,NO_PHENOTYPE|A|G|245|39.0|Non-synonymous|Line Propagating
760251|IGL00091|14|55066565|P->S||Unknown|MGI:2686934|Zfhx2|zinc finger homeobox 2 [Source:MGI Symbol;Acc:MGI:2686934]|Heterozygous||G|A|203|35.0|Non-synonymous|Line Propagating
760252|IGL00091|17|55592708|E->G|1.0|Probably damaging|MGI:3761695|Vmn2r118|vomeronasal 2, receptor 118 [Source:MGI Symbol;Acc:MGI:3761695]|Heterozygous||T|C|198|38.0|Non-synonymous|Line Propagating
760253|IGL00091|9|57682069|S->Stop||N/A|MGI:88589|Cyp1a2|cytochrome P450, family 1, subfamily a, polypeptide 2 [Source:MGI Symbol;Acc:MGI:88589]|Heterozygous|Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment.|G|T|161|37.0|Non-synonymous|Line Propagating
760254|IGL00091|14|56771711|L->P|1.0|Probably damaging|MGI:1913895|Pspc1|paraspeckle protein 1 [Source:MGI Symbol;Acc:MGI:1913895]|Heterozygous||A|G|158|38.0|Non-synonymous|Line Propagating
760255|IGL00091|10|39072805|S->R|1.0|Probably damaging|MGI:109321|Lama4|laminin, alpha 4 [Source:MGI Symbol;Acc:MGI:109321]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects.|A|C|150|37.0|Non-synonymous|Line Propagating
760256|IGL00091|2|168268764|H->R||Benign|MGI:3616086|Kcng1|potassium voltage-gated channel, subfamily G, member 1 [Source:MGI Symbol;Acc:MGI:3616086]|Heterozygous||T|C|146|33.0|Non-synonymous|Line Propagating
760258|IGL00091|7|97302443|S->P|0.42|Benign|MGI:1333854|Gab2|growth factor receptor bound protein 2-associated protein 2 [Source:MGI Symbol;Acc:MGI:1333854]|Heterozygous|Homozygotes for targeted null mutations exhibit impairments in passive cutaneous and systemic anaphylaxis, Fc gamma receptor-mediated phagocytosis, and mast cell development.|T|C|134|37.0|Non-synonymous|Line Propagating
760260|IGL00091|2|120748833|G->Stop||N/A|MGI:2155779|Ttbk2|tau tubulin kinase 2 [Source:MGI Symbol;Acc:MGI:2155779]|Heterozygous|Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning.|C|A|121|35.0|Non-synonymous|Line Propagating
760261|IGL00091|18|12580292|T->A||Benign|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|A|G|107|36.0|Non-synonymous|Line Propagating
760262|IGL00091|3|75249242|Y->C|1.0|Probably damaging|MGI:1915181|Serpini2|serine (or cysteine) peptidase inhibitor, clade I, member 2 [Source:MGI Symbol;Acc:MGI:1915181]|Heterozygous||T|C|105|39.0|Non-synonymous|Line Propagating
760264|IGL00091|11|84965767|P->S|0.99|Probably damaging|MGI:1096574|Car4|carbonic anhydrase 4 [Source:MGI Symbol;Acc:MGI:1096574]|Heterozygous|Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive.|C|T|99|36.0|Non-synonymous|Line Propagating
760266|IGL00091|11|121831146|Y->N|1.0|Probably damaging|MGI:1921925|Ptchd3|patched domain containing 3 [Source:MGI Symbol;Acc:MGI:1921925]|Heterozygous||T|A|95|36.0|Non-synonymous|Line Propagating
760268|IGL00091|8|123354059|D->G|1.0|Probably damaging|MGI:2446256|Spire2|spire homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2446256]|Heterozygous||A|G|92|35.0|Non-synonymous|Line Propagating
760270|IGL00091|9|14703097|D->E|1.0|Probably damaging|MGI:3041167|Piwil4|piwi-like homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3041167]|Heterozygous||A|T|91|38.0|Non-synonymous|Line Propagating
760273|IGL00091|2|121414178|L->P|0.98|Probably damaging|MGI:95834|Pdia3|protein disulfide isomerase associated 3 [Source:MGI Symbol;Acc:MGI:95834]|Heterozygous|Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormal bone volume bone morphology.|T|C|85|34.0|Non-synonymous|Line Propagating
760275|IGL00091|1|93402166|H->L|0.16|Benign|MGI:3052714|Ano7|anoctamin 7 [Source:MGI Symbol;Acc:MGI:3052714]|Heterozygous||A|T|81|36.0|Non-synonymous|Line Propagating
760276|IGL00091|10|128241708|L->P|1.0|Probably damaging|MGI:1321393|Timeless|timeless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1321393]|Heterozygous|Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation.|T|C|81|37.0|Non-synonymous|Line Propagating
760277|IGL00091|15|99101178|F->L|0.94|Possibly damaging|MGI:1920028|Dnajc22|DnaJ (Hsp40) homolog, subfamily C, member 22 [Source:MGI Symbol;Acc:MGI:1920028]|Heterozygous||T|A|81|37.0|Non-synonymous|Line Propagating
760283|IGL00091|10|24279864|V->I|1.0|Probably damaging|MGI:1921582|Moxd1|monooxygenase, DBH-like 1 [Source:MGI Symbol;Acc:MGI:1921582]|Heterozygous||G|A|67|38.0|Non-synonymous|Line Propagating
760285|IGL00091|9|30953500|T->K|0.01|Benign|MGI:1353468|Adamts8|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8 [Source:MGI Symbol;Acc:MGI:1353468]|Heterozygous||C|A|66|37.0|Non-synonymous|Line Propagating
760286|IGL00091|5|16212944|F->L|1.0|Probably damaging|MGI:88295|Cacna2d1|calcium channel, voltage-dependent, alpha2/delta subunit 1 [Source:MGI Symbol;Acc:MGI:88295]|Heterozygous|Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.|T|A|63|37.0|Non-synonymous|Line Propagating
760287|IGL00091|7|132883428|Y->F|0.41|Benign|MGI:1926116|Fam175b|family with sequence similarity 175, member B [Source:MGI Symbol;Acc:MGI:1926116]|Heterozygous||A|T|61|37.0|Non-synonymous|Line Propagating
760289|IGL00091|13|32234390|S->L|1.0|Probably damaging|MGI:1891112|Gmds|GDP-mannose 4, 6-dehydratase [Source:MGI Symbol;Acc:MGI:1891112]|Heterozygous||G|A|60|37.0|Non-synonymous|Line Propagating
760290|IGL00091|19|20696394|A->S||Benign|MGI:1347050|Aldh1a7|aldehyde dehydrogenase family 1, subfamily A7 [Source:MGI Symbol;Acc:MGI:1347050]|Heterozygous||C|A|58|39.0|Non-synonymous|Line Propagating
760291|IGL00091|13|55454461|V->G|0.99|Probably damaging|MGI:1347078|Grk6|G protein-coupled receptor kinase 6 [Source:MGI Symbol;Acc:MGI:1347078]|Heterozygous|Whereas, homozygous mutant mice are viable and show no gross anatomical or behavioral abnormalites under normal physiological conditions, they exhibit locomotor supersensitivity to psychostimulants including cocaine and amphetamine.|T|G|54|33.0|Non-synonymous|Line Propagating
760292|IGL00091|4|141309021|V->G|0.83|Possibly damaging|MGI:95278|Epha2|Eph receptor A2 [Source:MGI Symbol;Acc:MGI:95278]|Heterozygous|Mice homozygous for a null allele exhibit abnormal angiogenesis. Mice homozygous for a gene trap allele exhibit increased incidence of chemically-induced tumors, increased metastatic potential, and age-related cataracts.|T|G|52|33.0|Non-synonymous|Line Propagating
760293|IGL00091|15|96372302|V->A||Benign|MGI:1924294|Arid2|AT rich interactive domain 2 (ARID, RFX-like) [Source:MGI Symbol;Acc:MGI:1924294]|Heterozygous||T|C|50|31.5|Non-synonymous|Line Propagating
760297|IGL00091|4|117903405|E->G||Benign|MGI:2385205|Ipo13|importin 13 [Source:MGI Symbol;Acc:MGI:2385205]|Heterozygous||T|C|45|39.0|Non-synonymous|Line Propagating
760299|IGL00091|5|139414846|E->G|1.0|Probably damaging|MGI:2442694, MGI:1920462|3110082i17rik,c130050o18rik|RIKEN cDNA C130050O18 gene [Source:MGI Symbol;Acc:MGI:2442694],RIKEN cDNA 3110082I17 gene [Source:MGI Symbol;Acc:MGI:1920462]|Heterozygous||A|G|40|38.5|Non-synonymous|Line Propagating
760300|IGL00091|4|8221550|E->D|1.0|Probably damaging|MGI:88253|Car8|carbonic anhydrase 8 [Source:MGI Symbol;Acc:MGI:88253]|Heterozygous|Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life.|C|A|39|39.0|Non-synonymous|Line Propagating
760301|IGL00091|13|67490995|V->A|0.9|Possibly damaging|MGI:99205|Zfp58|zinc finger protein 58 [Source:MGI Symbol;Acc:MGI:99205]|Heterozygous||A|G|38|37.0|Non-synonymous|Line Propagating
760303|IGL00091|2|174645658|S->P|0.81|Possibly damaging|MGI:3641861|Zfp831|zinc finger protein 831 [Source:MGI Symbol;Acc:MGI:3641861]|Heterozygous||T|C|32|35.5|Non-synonymous|Line Propagating
760304|IGL00091|1|181908338|G->V||Unknown|MGI:108360|Enah|enabled homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:108360]|Heterozygous|Mice homozygous for a targeted mutation show defects in major axonal projection pathways in brain, including malformation of the hippocampal commissure and pontocerebellar fibers and frequent agenesis of the corpus callosum due to a failure of axons to project across the midline during development.|C|A|29|36.0|Non-synonymous|Line Propagating
760305|IGL00091|17|75225338|H->Y|0.95|Possibly damaging|MGI:109151|Ltbp1|latent transforming growth factor beta binding protein 1 [Source:MGI Symbol;Acc:MGI:109151]|Heterozygous|Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract.|C|T|28|34.5|Non-synonymous|Line Propagating
760306|IGL00091|8|18632620|N->S|0.07|Benign|MGI:2443308|Mcph1|microcephaly, primary autosomal recessive 1 [Source:MGI Symbol;Acc:MGI:2443308]|Heterozygous|Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis.|A|G|27|38.0|Non-synonymous|Line Propagating
760307|IGL00091|17|27106216|A->D|0.97|Probably damaging|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|C|A|25|39.0|Non-synonymous|Line Propagating
760308|IGL00091|16|13698973|E->G|0.2|Benign|MGI:1914368|Bfar|bifunctional apoptosis regulator [Source:MGI Symbol;Acc:MGI:1914368]|Heterozygous||A|G|23|32.0|Non-synonymous|Line Propagating
760309|IGL00091|6|64729584|S->P|0.49|Possibly damaging|MGI:104654|Atoh1|atonal homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:104654]|Heterozygous|Homozygotes for targeted null mutations exhibit a decreased cerebellum without folia, and lack cerebellar granule neurons, inner-ear hair cells, D1 interneurons, and goblet, enteroendocrine, and Paneth cells. Mutants fail to breathe properly and die at birth.|T|C|23|35.0|Non-synonymous|Line Propagating
760310|IGL00091|15|84935404|F->Y||Unknown|MGI:1351502|Nup50|nucleoporin 50 [Source:MGI Symbol;Acc:MGI:1351502]|Heterozygous|Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation.|T|A|22|35.0|Non-synonymous|Line Propagating
760312|IGL00091|X|98150535|P->T|0.89|Possibly damaging|MGI:88064|Ar|androgen receptor [Source:MGI Symbol;Acc:MGI:88064]|Heterozygous|Hemizygous mutant males are androgen-resistant and therefore have have small, undescended testes, and lack epididymal structures, vas deferens, and male accessory glands. They resemble females physically and behaviorally, but lack female reproductive organs.|C|A|22|36.0|Non-synonymous|Line Propagating
760313|IGL00091|1|180963088|T->M|1.0|Probably damaging|MGI:2384789|Tmem63a|transmembrane protein 63a [Source:MGI Symbol;Acc:MGI:2384789]|Heterozygous||C|T|21|37.0|Non-synonymous|Line Propagating
760314|IGL00091|10|62959225|S->Y|0.7|Possibly damaging|MGI:2443732|Dna2|DNA replication helicase 2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2443732]|Heterozygous||C|A|21|35.0|Non-synonymous|Line Propagating
760315|IGL00091|X|101453214|W->Stop||N/A|MGI:1353420|Itgb1bp2|integrin beta 1 binding protein 2 [Source:MGI Symbol;Acc:MGI:1353420]|Heterozygous|Mutant animals show normal cardiac structure and function under physiological conditions. When subjected to pressure overload, mutant hearts display contractile dysfunction and dilated cardiomyopathy.|G|A|20|37.0|Non-synonymous|Line Propagating
760317|IGL00091|17|35693059|A->S|1.0|Probably damaging|MGI:99216|Ddr1|discoidin domain receptor family, member 1 [Source:MGI Symbol;Acc:MGI:99216]|Heterozygous|Homozygous mutant mice are viable but smaller than control mice. Most mutant females are not able to give birth because developing blastocysts fail to implant. Successfully reproducing females show a lactation defect which is attributed to hyperproliferation and aberrant branching of mammary ducts.|C|A|19|37.0|Non-synonymous|Line Propagating
760319|IGL00091|2|73319338|A->D|1.0|Probably damaging|MGI:1921866|Scrn3|secernin 3 [Source:MGI Symbol;Acc:MGI:1921866]|Heterozygous||C|A|18|36.0|Non-synonymous|Line Propagating
760320|IGL00091|19|34149286|C->F|1.0|Probably damaging|MGI:1277101|Ankrd22|ankyrin repeat domain 22 [Source:MGI Symbol;Acc:MGI:1277101]|Heterozygous||C|A|17|36.0|Non-synonymous|Line Propagating
760321|IGL00091|1|178530461|E->Stop||N/A|MGI:2447076|Kif26b|kinesin family member 26B [Source:MGI Symbol;Acc:MGI:2447076]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality with impaired kidney development due to loss of cortical nephrogenic zone mesenchyme and failure of ureteric buds to invade and branch into the mesenchyme.|G|T|16|35.0|Non-synonymous|Line Propagating
760322|IGL00091|X|69834335|K->Stop||N/A|MGI:1202294|Aff2|AF4/FMR2 family, member 2 [Source:MGI Symbol;Acc:MGI:1202294]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices.|A|T|16|39.0|Non-synonymous|Line Propagating
760325|IGL00091|7|102113554|R->L|0.04|Benign|MGI:3609260|Chrna10|cholinergic receptor, nicotinic, alpha polypeptide 10 [Source:MGI Symbol;Acc:MGI:3609260]|Heterozygous||C|A|13|39.0|Non-synonymous|Line Propagating
760326|IGL00091|10|78173910|R->L|0.07|Benign|MGI:1341200|Pwp2|PWP2 periodic tryptophan protein homolog (yeast) [Source:MGI Symbol;Acc:MGI:1341200]|Heterozygous||C|A|12|37.0|Non-synonymous|Line Propagating
760328|IGL00091|9|123007344|A->S|0.85|Possibly damaging|MGI:1098258|Kif15|kinesin family member 15 [Source:MGI Symbol;Acc:MGI:1098258]|Heterozygous||G|T|11|36.0|Non-synonymous|Line Propagating
760329|IGL00091|7|29876025|R->S||Benign|MGI:2444666|Zfp420|zinc finger protein 420 [Source:MGI Symbol;Acc:MGI:2444666]|Heterozygous||C|A|10|39.0|Non-synonymous|Line Propagating
760332|IGL00091|1|36179552|Disrupted splicing||N/A|MGI:2443162|Uggt1|UDP-glucose glycoprotein glucosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2443162]|Heterozygous||T|C|116|38.0|Splice|Line Propagating
760333|IGL00091|18|32815395|Disrupted splicing||N/A|MGI:1855696|Tslp|thymic stromal lymphopoietin [Source:MGI Symbol;Acc:MGI:1855696]|Heterozygous|Mice homozygous for a knock-out allele exhibit resistance to MC903-induced atopic dermatitis.|A|G|85|37.0|Splice|Line Propagating
760334|IGL00091|10|86869206|Disrupted splicing||N/A|MGI:2178743|Stab2|stabilin 2 [Source:MGI Symbol;Acc:MGI:2178743]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|A|T|65|34.0|Splice|Line Propagating
760336|IGL00091|12|98873209|Disrupted splicing||N/A|MGI:2442513|Eml5|echinoderm microtubule associated protein like 5 [Source:MGI Symbol;Acc:MGI:2442513]|Heterozygous||G|A|53|39.0|Splice|Line Propagating
760337|IGL00091|2|32686547|Disrupted splicing||N/A|MGI:95576|Fpgs|folylpolyglutamyl synthetase [Source:MGI Symbol;Acc:MGI:95576]|Heterozygous||A|T|44|39.0|Splice|Line Propagating
760338|IGL00091|18|60778424|Disrupted splicing||N/A|MGI:98107|Rps14|ribosomal protein S14 [Source:MGI Symbol;Acc:MGI:98107]|Heterozygous||C|T|39|31.0|Splice|Line Propagating
760339|IGL00091|15|83336727|Disrupted splicing||N/A|MGI:1913501|Arfgap3|ADP-ribosylation factor GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:1913501]|Heterozygous||C|A|36|39.0|Splice|Line Propagating
760341|IGL00091|14|31210215|Disrupted splicing||N/A|MGI:98779|Tnnc1|troponin C, cardiac/slow skeletal [Source:MGI Symbol;Acc:MGI:98779]|Heterozygous||C|A|14|37.0|Splice|Line Propagating
762785|IGL00094|7|140691436|H->L|1.0|Probably damaging|MGI:1333826|Olfr45|olfactory receptor 45 [Source:MGI Symbol;Acc:MGI:1333826]|Heterozygous||A|T|410|35.0|Non-synonymous|Line Propagating
762787|IGL00094|5|105081264|K->E|0.02|Benign|MGI:3605620|Gbp9|guanylate-binding protein 9 [Source:MGI Symbol;Acc:MGI:3605620]|Heterozygous||T|C|257|37.0|Non-synonymous|Line Propagating
762788|IGL00094|15|98456418|V->G|0.42|Benign|MGI:3030115|Olfr281|olfactory receptor 281 [Source:MGI Symbol;Acc:MGI:3030115]|Heterozygous||T|G|218|36.0|Non-synonymous|Line Propagating
762789|IGL00094|12|76133896|L->H|1.0|Probably damaging|MGI:109392|Esr2|estrogen receptor 2 (beta) [Source:MGI Symbol;Acc:MGI:109392]|Heterozygous|Mice homozygous for a knock-out allele exhibit neural, behavior, glucose homeostasis, sex-specific nociception, cardiac, and ion channel abnormalities and myeloproliferative disorders. Females are sterile/subfertile with granulosa cell defects; males show prostate hyperplasia.|A|T|214|36.0|Non-synonymous|Line Propagating
762790|IGL00094|9|19496859|I->N|0.96|Probably damaging|MGI:3030685|Olfr851|olfactory receptor 851 [Source:MGI Symbol;Acc:MGI:3030685]|Heterozygous||T|A|195|37.0|Non-synonymous|Line Propagating
762791|IGL00094|7|17814137|V->I|0.9|Possibly damaging|MGI:1914334|Ceacam14|carcinoembryonic antigen-related cell adhesion molecule 14 [Source:MGI Symbol;Acc:MGI:1914334]|Heterozygous||G|A|194|37.0|Non-synonymous|Line Propagating
762792|IGL00094|5|5584682|D->G|1.0|Probably damaging|MGI:2443778|A330021e22rik|RIKEN cDNA A330021E22 gene [Source:MGI Symbol;Acc:MGI:2443778]|Heterozygous||T|C|187|39.0|Non-synonymous|Line Propagating
762793|IGL00094|9|39484648|I->V||Benign|MGI:1333829|Olfr44|olfactory receptor 44 [Source:MGI Symbol;Acc:MGI:1333829]|Heterozygous||T|C|176|38.5|Non-synonymous|Line Propagating
762794|IGL00094|18|37145075|L->F||N/A|MGI:2150982|Pcdha1|protocadherin alpha 1 [Source:MGI Symbol;Acc:MGI:2150982]|Heterozygous|Mice homozygous for a null allele are viable and fertile.|A|T|174|38.0|Non-synonymous|Line Propagating
762795|IGL00094|12|31335577|M->K|0.13|Benign|MGI:107450|Dld|dihydrolipoamide dehydrogenase [Source:MGI Symbol;Acc:MGI:107450]|Heterozygous|Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.|A|T|167|38.0|Non-synonymous|Line Propagating
762796|IGL00094|6|35522776|T->K|0.02|Benign|MGI:99445|Mtpn|myotrophin [Source:MGI Symbol;Acc:MGI:99445]|Heterozygous||G|T|147|37.0|Non-synonymous|Line Propagating
762797|IGL00094|2|87457927|V->E|1.0|Probably damaging|MGI:3030960|Olfr1126|olfactory receptor 1126 [Source:MGI Symbol;Acc:MGI:3030960]|Heterozygous||T|A|144|35.0|Non-synonymous|Line Propagating
762798|IGL00094|11|3711848|S->R|0.08|Benign|MGI:1921559|Osbp2|oxysterol binding protein 2 [Source:MGI Symbol;Acc:MGI:1921559]|Heterozygous||T|G|141|36.0|Non-synonymous|Line Propagating
762799|IGL00094|11|9297443|T->A|0.03|Benign|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||A|G|141|32.0|Non-synonymous|Line Propagating
762800|IGL00094|8|4754258|Y->Stop||N/A|MGI:1338802|Shcbp1|Shc SH2-domain binding protein 1 [Source:MGI Symbol;Acc:MGI:1338802]|Heterozygous||A|C|135|38.0|Non-synonymous|Line Propagating
762801|IGL00094|2|90003021|I->N|0.7|Possibly damaging|MGI:3031096|Olfr1262|olfactory receptor 1262 [Source:MGI Symbol;Acc:MGI:3031096]|Heterozygous||T|A|131|39.0|Non-synonymous|Line Propagating
762802|IGL00094|10|62393789|N->S|0.91|Possibly damaging|MGI:2384910|Hkdc1|hexokinase domain containing 1 [Source:MGI Symbol;Acc:MGI:2384910]|Heterozygous||T|C|128|36.0|Non-synonymous|Line Propagating
762803|IGL00094|3|10348530|D->E|0.64|Possibly damaging|MGI:1913611|Zfand1|zinc finger, AN1-type domain 1 [Source:MGI Symbol;Acc:MGI:1913611]|Heterozygous||A|T|127|39.0|Non-synonymous|Line Propagating
762804|IGL00094|7|30243523|E->G||Benign|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||T|C|123|37.0|Non-synonymous|Line Propagating
762806|IGL00094|14|30895469|Y->F|0.06|Benign|MGI:109536|Itih4|inter alpha-trypsin inhibitor, heavy chain 4 [Source:MGI Symbol;Acc:MGI:109536]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated.|A|T|100|37.0|Non-synonymous|Line Propagating
762808|IGL00094|3|155101061|C->S|0.04|Benign|MGI:1921685|Lrriq3|leucine-rich repeats and IQ motif containing 3 [Source:MGI Symbol;Acc:MGI:1921685]|Heterozygous||T|A|88|38.0|Non-synonymous|Line Propagating
762809|IGL00094|11|54940817|Y->Stop||N/A|MGI:1926194|Tnip1|TNFAIP3 interacting protein 1 [Source:MGI Symbol;Acc:MGI:1926194]|Heterozygous|Mice homozygous for a null allele exhibit perinatal lethality associated with anemia and focal apoptosis in the fetal liver.|G|T|87|36.0|Non-synonymous|Line Propagating
762813|IGL00094|5|65969257|V->A|0.53|Possibly damaging|MGI:1202403|Chrna9|cholinergic receptor, nicotinic, alpha polypeptide 9 [Source:MGI Symbol;Acc:MGI:1202403]|Heterozygous|Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response.|T|C|77|37.0|Non-synonymous|Line Propagating
762814|IGL00094|5|125514190|N->K|0.22|Benign|MGI:1926144|Aacs|acetoacetyl-CoA synthetase [Source:MGI Symbol;Acc:MGI:1926144]|Heterozygous||T|A|73|36.0|Non-synonymous|Line Propagating
762816|IGL00094|1|60235191|E->Stop||N/A|MGI:2444343|Nbeal1|neurobeachin like 1 [Source:MGI Symbol;Acc:MGI:2444343]|Heterozygous||G|T|71|39.0|Non-synonymous|Line Propagating
762819|IGL00094|19|10539787|R->G|1.0|Probably damaging|MGI:1917826|Cpsf7|cleavage and polyadenylation specific factor 7 [Source:MGI Symbol;Acc:MGI:1917826]|Heterozygous||A|G|69|36.0|Non-synonymous|Line Propagating
762820|IGL00094|16|14470534|N->S||Benign|MGI:102676|Abcc1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [Source:MGI Symbol;Acc:MGI:102676]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide.|A|G|68|36.5|Non-synonymous|Line Propagating
762821|IGL00094|2|69507779|D->V|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|T|A|68|37.0|Non-synonymous|Line Propagating
762822|IGL00094|14|47384718|K->R|0.15|Benign|MGI:96778|Lgals3|lectin, galactose binding, soluble 3 [Source:MGI Symbol;Acc:MGI:96778]|Heterozygous||A|G|64|39.0|Non-synonymous|Line Propagating
762824|IGL00094|7|109808454|T->A|1.0|Probably damaging|MGI:1928765|Scube2|signal peptide, CUB domain, EGF-like 2 [Source:MGI Symbol;Acc:MGI:1928765]|Heterozygous||T|C|64|37.0|Non-synonymous|Line Propagating
762826|IGL00094|11|22836151|V->I|0.03|Benign|MGI:1889505|B3gnt2|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:1889505]|Heterozygous|Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety.|C|T|61|38.0|Non-synonymous|Line Propagating
762827|IGL00094|14|103223050|Y->N|1.0|Probably damaging|MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|A|T|57|33.0|Non-synonymous|Line Propagating
762828|IGL00094|17|34685629|G->C|1.0|Probably damaging|MGI:1932137|Tnxb|tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]|Heterozygous|Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.|G|T|56|36.0|Non-synonymous|Line Propagating
762829|IGL00094|17|45534928|F->L|1.0|Probably damaging|MGI:98640|Tcte1|t-complex-associated testis expressed 1 [Source:MGI Symbol;Acc:MGI:98640]|Heterozygous||T|C|56|37.0|Non-synonymous|Line Propagating
762832|IGL00094|5|117910100|S->A|1.0|Probably damaging|MGI:97360|Nos1|nitric oxide synthase 1, neuronal [Source:MGI Symbol;Acc:MGI:97360]|Heterozygous||T|G|55|36.0|Non-synonymous|Line Propagating
762833|IGL00094|7|24122243|T->P|0.98|Probably damaging|MGI:1929115|Zfp112|zinc finger protein 112 [Source:MGI Symbol;Acc:MGI:1929115]|Heterozygous||A|C|55|34.0|Non-synonymous|Line Propagating
762834|IGL00094|3|88981712|N->K|0.1|Benign|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|A|53|37.0|Non-synonymous|Line Propagating
762835|IGL00094|7|25383552|T->A|1.0|Probably damaging|MGI:96790|Lipe|lipase, hormone sensitive [Source:MGI Symbol;Acc:MGI:96790]|Heterozygous|Mutations of this locus result in abnormal lipid homeostasis and, in some lines, defects in spermatogenesis.|T|C|53|34.0|Non-synonymous|Line Propagating
762836|IGL00094|19|60467681|V->E|1.0|Probably damaging|MGI:2135956|Prlhr|prolactin releasing hormone receptor [Source:MGI Symbol;Acc:MGI:2135956]|Heterozygous|Mice homozygous for disruptions in this gene ate more than normal and became obese as they aged.|A|T|50|33.5|Non-synonymous|Line Propagating
762838|IGL00094|10|80741979|M->V||Benign|MGI:107734|Ap3d1|adaptor-related protein complex 3, delta 1 subunit [Source:MGI Symbol;Acc:MGI:107734]|Heterozygous|Mutations show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects. They model Hermansky-Pudlak storage pool deficiency syndrome.|T|C|44|36.0|Non-synonymous|Line Propagating
762841|IGL00094|11|101990820|E->G|0.45|Possibly damaging|MGI:1922687|1700006e09rik|RIKEN cDNA 1700006E09 gene [Source:MGI Symbol;Acc:MGI:1922687]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
762842|IGL00094|3|85601920|I->L|0.94|Possibly damaging|MGI:3042413, MGI:1277120, MGI:2442496|Pet112l|PET112-like (yeast) [Source:MGI Symbol;Acc:MGI:2442496]|Heterozygous||A|T|42|36.5|Non-synonymous|Line Propagating
762843|IGL00094|12|80339323|N->K||Benign|MGI:2444785|Dcaf5|DDB1 and CUL4 associated factor 5 [Source:MGI Symbol;Acc:MGI:2444785]|Heterozygous||A|C|36|36.0|Non-synonymous|Line Propagating
762845|IGL00094|2|23537631|V->E|1.0|Probably damaging|MGI:1924107|Spopl|speckle-type POZ protein-like [Source:MGI Symbol;Acc:MGI:1924107]|Heterozygous||A|T|34|37.0|Non-synonymous|Line Propagating
762846|IGL00094|11|115344453|T->S|0.02|Benign|MGI:1916852|Otop3|otopetrin 3 [Source:MGI Symbol;Acc:MGI:1916852]|Heterozygous||A|T|32|35.0|Non-synonymous|Line Propagating
762848|IGL00094|2|84696305|T->P|1.0|Probably damaging|MGI:1923573|Zdhhc5|zinc finger, DHHC domain containing 5 [Source:MGI Symbol;Acc:MGI:1923573]|Heterozygous||T|G|29|31.0|Non-synonymous|Line Propagating
762849|IGL00094|15|54259842|H->L|0.89|Possibly damaging|MGI:109587|Tnfrsf11b|tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) [Source:MGI Symbol;Acc:MGI:109587]|Heterozygous|Homozygote null mice have abnormal bone remodeling that results in severe osteoperosis with increased risk of fractures and growth retardation. Progressive hearing loss also results due to abnormal remodeling of the otic capsule.|T|A|27|36.0|Non-synonymous|Line Propagating
762850|IGL00094|2|122787543|I->T|0.56|Possibly damaging|MGI:1929899|Sqrdl|sulfide quinone reductase-like (yeast) [Source:MGI Symbol;Acc:MGI:1929899]|Heterozygous||T|C|26|35.5|Non-synonymous|Line Propagating
762851|IGL00094|10|84840199|L->Q|1.0|Probably damaging|MGI:1918387|Rfx4|regulatory factor X, 4 (influences HLA class II expression) [Source:MGI Symbol;Acc:MGI:1918387]|Heterozygous|Inactivating null allele or homozygous point mutation allele exhibit missing dorsal midline structure of the cortex including the subcommissural organ. Heterozygous null mice have congenital hydrocephalus. Homozygous null mice die within 1 hours of birth.|T|A|25|35.0|Non-synonymous|Line Propagating
762852|IGL00094|16|4304582|I->L||Benign|MGI:108450|Adcy9|adenylate cyclase 9 [Source:MGI Symbol;Acc:MGI:108450]|Heterozygous|Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge.|T|A|23|36.0|Non-synonymous|Line Propagating
762853|IGL00094|12|53140980|S->G|0.95|Possibly damaging|MGI:3050566|Akap6|A kinase (PRKA) anchor protein 6 [Source:MGI Symbol;Acc:MGI:3050566]|Heterozygous||A|G|20|37.5|Non-synonymous|Line Propagating
762854|IGL00094|2|158420856|W->R|1.0|Probably damaging|MGI:2444531|Ralgapb|Ral GTPase activating protein, beta subunit (non-catalytic) [Source:MGI Symbol;Acc:MGI:2444531]|Heterozygous||T|C|15|37.0|Non-synonymous|Line Propagating
762855|IGL00094|18|53919003|Y->H|1.0|Probably damaging|MGI:1917675|Csnk1g3|casein kinase 1, gamma 3 [Source:MGI Symbol;Acc:MGI:1917675]|Heterozygous||T|C|12|39.0|Non-synonymous|Line Propagating
762856|IGL00094|15|102331286|M->I||Benign|MGI:1928753|Pfdn5|prefoldin 5 [Source:MGI Symbol;Acc:MGI:1928753]|Heterozygous|Mice homozygous for an ENU-induced mutation exhibit photoreceptor degeneration, central nervous system abnormalities, and male infertility.|G|T|10|37.0|Non-synonymous|Line Propagating
762861|IGL00094|18|39428608|Disrupted splicing||N/A|MGI:95824|Nr3c1|nuclear receptor subfamily 3, group C, member 1 [Source:MGI Symbol;Acc:MGI:95824]|Heterozygous|Homozygous null mutants die at birth of respiratory failure with underdeveloped lungs, enlarged adrenals, elevated serum corticosterone and ACTH, and failed adrenaline synthesis. Mice with a point mutation have impaired gluconeogenesis and erythropoiesis.|A|T|107|38.0|Splice|Line Propagating
762862|IGL00094|19|13861786|Disrupted splicing||N/A|MGI:3031336|Olfr1502|olfactory receptor 1502 [Source:MGI Symbol;Acc:MGI:3031336]|Heterozygous||A|T|85|39.0|Splice|Line Propagating
762863|IGL00094|15|79247257|Disrupted splicing||N/A|MGI:894645|Pick1|protein interacting with C kinase 1 [Source:MGI Symbol;Acc:MGI:894645]|Heterozygous|Mice homozygous for a null allele show impaired synaptic plasticity and lack of long-term depression; males are infertile due to reduced sperm count and impaired sperm motility, and display small testes and seminiferous tubules, malformed acrosomes, globozoospermia, and male germ cell apoptosis.|T|C|65|34.5|Splice|Line Propagating
762864|IGL00094|6|39388198|Disrupted splicing||N/A|MGI:103292|Rab19|RAB19, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:103292]|Heterozygous||A|T|46|36.0|Splice|Line Propagating
762866|IGL00094|15|36545616|Disrupted splicing||N/A|MGI:1913946|Snx31|sorting nexin 31 [Source:MGI Symbol;Acc:MGI:1913946]|Heterozygous||T|A|36|38.0|Splice|Line Propagating
762867|IGL00094|3|123486949|Disrupted splicing||N/A|MGI:1100881|Prss12|protease, serine, 12 neurotrypsin (motopsin) [Source:MGI Symbol;Acc:MGI:1100881]|Heterozygous|Mice homozygous for a targeted mutation display hypoactivity and increased anxiety.|G|A|36|37.0|Splice|Line Propagating
762868|IGL00094|6|57724537|Disrupted splicing||N/A|MGI:1919085|Lancl2|LanC (bacterial lantibiotic synthetase component C)-like 2 [Source:MGI Symbol;Acc:MGI:1919085]|Heterozygous||T|A|31|38.0|Splice|Line Propagating
764969|IGL00155|7|121070653|K->Stop||N/A|MGI:1914862, MGI:1891393|Mettl9,igsf6|immunoglobulin superfamily, member 6 [Source:MGI Symbol;Acc:MGI:1891393],methyltransferase like 9 [Source:MGI Symbol;Acc:MGI:1914862]|Heterozygous||T|A|152|39.0|Non-synonymous|Line Propagating
764970|IGL00155|2|113834256|S->P||Benign|MGI:2444300|Arhgap11a|Rho GTPase activating protein 11A [Source:MGI Symbol;Acc:MGI:2444300]|Heterozygous||A|G|144|39.0|Non-synonymous|Line Propagating
764971|IGL00155|10|68775354|S->G|1.0|Probably damaging|MGI:2143537|Tmem26|transmembrane protein 26 [Source:MGI Symbol;Acc:MGI:2143537]|Heterozygous||A|G|143|39.0|Non-synonymous|Line Propagating
764975|IGL00155|2|125563888|S->P||Benign|MGI:2139083|Cep152|centrosomal protein 152 [Source:MGI Symbol;Acc:MGI:2139083]|Heterozygous||A|G|129|39.0|Non-synonymous|Line Propagating
764978|IGL00155|14|69773430|T->P|1.0|Probably damaging|MGI:1341090|Tnfrsf10b|tumor necrosis factor receptor superfamily, member 10b [Source:MGI Symbol;Acc:MGI:1341090]|Heterozygous|Homozygous mutants exhibit enhanced innate immune responses, including increased clearance of cytomegalovirus and increased levels of IL-12, IFN-alpha and IFN-gamma after viral infection.|A|C|121|35.0|Non-synonymous|Line Propagating
764979|IGL00155|5|92323869|H->L|0.2|Benign|MGI:1352449|Cxcl9|chemokine (C-X-C motif) ligand 9 [Source:MGI Symbol;Acc:MGI:1352449]|Heterozygous|Mice homozygous for a knock-out allele show a significant reduction in CD4+ T cell infiltration into the cornea in response to ocular HSV-1 infection, and produce lower titers of antibodies in response to primary infection with the intracellular bacterium Francisella tularensis live vaccine strain.|T|A|111|39.0|Non-synonymous|Line Propagating
764980|IGL00155|5|128601528|I->N|1.0|Probably damaging|MGI:2136761|Fzd10|frizzled homolog 10 (Drosophila) [Source:MGI Symbol;Acc:MGI:2136761]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|A|107|35.0|Non-synonymous|Line Propagating
764985|IGL00155|8|69051346|A->T|0.82|Possibly damaging|MGI:106684|Slc18a1|solute carrier family 18 (vesicular monoamine), member 1 [Source:MGI Symbol;Acc:MGI:106684]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|C|T|93|39.0|Non-synonymous|Line Propagating
764986|IGL00155|12|16711961|S->P|0.98|Probably damaging|MGI:2149712|Greb1|gene regulated by estrogen in breast cancer protein [Source:MGI Symbol;Acc:MGI:2149712]|Heterozygous||A|G|89|36.0|Non-synonymous|Line Propagating
764988|IGL00155|10|116988727|Y->H|1.0|Probably damaging|MGI:3580298|Best3|bestrophin 3 [Source:MGI Symbol;Acc:MGI:3580298]|Heterozygous||T|C|76|39.0|Non-synonymous|Line Propagating
764990|IGL00155|7|122988685|I->T|0.98|Probably damaging|MGI:894835|Rbbp6|retinoblastoma binding protein 6 [Source:MGI Symbol;Acc:MGI:894835]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis.|T|C|75|39.0|Non-synonymous|Line Propagating
764991|IGL00155|2|124659865|R->G|1.0|Probably damaging|MGI:2387661|Sema6d|sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D [Source:MGI Symbol;Acc:MGI:2387661]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
764992|IGL00155|17|14668835|M->K|1.0|Probably damaging|MGI:98738|Thbs2|thrombospondin 2 [Source:MGI Symbol;Acc:MGI:98738]|Heterozygous|Mice homozygous for a knock-out allele display premature death, abnormal tails, marked structural and functional abnormalities in a variety of connective tissues including skin, tendon, bone, and blood vessels, accelerated wound healing, and enhanced susceptibility to experimental skin tumors.|A|T|68|39.0|Non-synonymous|Line Propagating
764993|IGL00155|3|90406329|F->L|0.99|Probably damaging|MGI:2140050|Ints3|integrator complex subunit 3 [Source:MGI Symbol;Acc:MGI:2140050]|Heterozygous||A|G|68|37.0|Non-synonymous|Line Propagating
764995|IGL00155|5|134242748|Y->C|1.0|Probably damaging|MGI:1202722|Gtf2i|general transcription factor II I [Source:MGI Symbol;Acc:MGI:1202722]|Heterozygous|Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported.|T|C|63|39.0|Non-synonymous|Line Propagating
764996|IGL00155|5|86239395|S->R|0.02|Benign|MGI:3521861|Tmprss11c|transmembrane protease, serine 11c [Source:MGI Symbol;Acc:MGI:3521861]|Heterozygous||A|T|60|39.0|Non-synonymous|Line Propagating
764997|IGL00155|10|128820075|G->W|1.0|Probably damaging|MGI:1914094|Ormdl2|ORM1-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914094]|Heterozygous||C|A|59|39.0|Non-synonymous|Line Propagating
764999|IGL00155|2|168926681|S->L|0.01|Benign|MGI:107342|Zfp64|zinc finger protein 64 [Source:MGI Symbol;Acc:MGI:107342]|Heterozygous||G|A|57|37.0|Non-synonymous|Line Propagating
765000|IGL00155|10|43992509|D->G|1.0|Probably damaging|MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||T|C|56|38.0|Non-synonymous|Line Propagating
765001|IGL00155|5|125513171|F->S|1.0|Probably damaging|MGI:1926144|Aacs|acetoacetyl-CoA synthetase [Source:MGI Symbol;Acc:MGI:1926144]|Heterozygous||T|C|56|37.0|Non-synonymous|Line Propagating
765003|IGL00155|7|10579952|N->S||Benign|MGI:2182253|Vmn1r69|vomeronasal 1 receptor 69 [Source:MGI Symbol;Acc:MGI:2182253]|Heterozygous||T|C|55|39.0|Non-synonymous|Line Propagating
765007|IGL00155|2|109093176|Y->Stop||N/A|MGI:1924144|Mettl15|methyltransferase like 15 [Source:MGI Symbol;Acc:MGI:1924144]|Heterozygous||A|T|53|39.0|Non-synonymous|Line Propagating
765009|IGL00155|4|82959389|V->A|0.29|Benign|MGI:2670972|Frem1|Fras1 related extracellular matrix protein 1 [Source:MGI Symbol;Acc:MGI:2670972]|Heterozygous||A|G|52|36.0|Non-synonymous|Line Propagating
765010|IGL00155|15|61989820|H->R||Benign|MGI:97250|Myc|myelocytomatosis oncogene [Source:MGI Symbol;Acc:MGI:97250]|Heterozygous|Mutations affect growth and development of heart, pericardium, neural tube, vasculogenesis and erythropoeisis. Homozygous null mutants die by embryonic day 10.5. Heterozygotes have reduced body size and multiorgan hypoplasia; females have small litters.|A|G|51|37.0|Non-synonymous|Line Propagating
765011|IGL00155|3|57463521|M->K|0.03|Benign|MGI:1917649|Wwtr1|WW domain containing transcription regulator 1 [Source:MGI Symbol;Acc:MGI:1917649]|Heterozygous|Mice homozygous for a null mutation display polycystic kidneys, elevated blood urea nitrogen, partial postnatal lethality, premature death, reduced litter sizes, and mildly reduced body size.|A|T|47|36.0|Non-synonymous|Line Propagating
765012|IGL00155|5|11921410|S->G|0.01|Benign|MGI:3703021|4933402n22rik|RIKEN cDNA 4933402N22 gene [Source:MGI Symbol;Acc:MGI:3703021]|Heterozygous||A|G|47|39.0|Non-synonymous|Line Propagating
765013|IGL00155|15|99242473|H->L|0.07|Benign|MGI:1341723|Kcnh3|potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:MGI Symbol;Acc:MGI:1341723]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.|A|T|44|35.0|Non-synonymous|Line Propagating
765014|IGL00155|19|7782836|L->P|1.0|Probably damaging|MGI:2385316|Bc014805|cDNA sequence BC014805 [Source:MGI Symbol;Acc:MGI:2385316]|Heterozygous||A|G|44|38.0|Non-synonymous|Line Propagating
765015|IGL00155|8|111102072|V->A|0.17|Benign|MGI:2442188|Pdpr|pyruvate dehydrogenase phosphatase regulatory subunit [Source:MGI Symbol;Acc:MGI:2442188]|Heterozygous||T|C|43|39.0|Non-synonymous|Line Propagating
765017|IGL00155|1|169984427|I->T|0.96|Probably damaging|MGI:1345277|Ddr2|discoidin domain receptor family, member 2 [Source:MGI Symbol;Acc:MGI:1345277]|Heterozygous|Homozygotes for a targeted null mutation exhibit dwarfism, shortening of the long bones with reduced chondrocyte proliferation, and generally reduced cell proliferation.|A|G|40|39.0|Non-synonymous|Line Propagating
765019|IGL00155|1|188864678|S->P|0.02|Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) homolog (human) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|T|C|39|36.0|Non-synonymous|Line Propagating
765022|IGL00155|8|107065517|D->A|0.54|Possibly damaging|MGI:1913519|Tmed6|transmembrane emp24 protein transport domain containing 6 [Source:MGI Symbol;Acc:MGI:1913519]|Heterozygous||T|G|35|30.0|Non-synonymous|Line Propagating
765024|IGL00155|19|41948233|F->L||Benign|MGI:1919449|Mms19|MMS19 (MET18 S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919449]|Heterozygous||A|G|33|39.0|Non-synonymous|Line Propagating
765026|IGL00155|3|65725429|S->R|0.01|Benign|MGI:3645902|Lekr1|leucine, glutamate and lysine rich 1 [Source:MGI Symbol;Acc:MGI:3645902]|Heterozygous||A|C|32|39.0|Non-synonymous|Line Propagating
765027|IGL00155|2|146891069|S->R|1.0|Probably damaging|MGI:2684960|Plk1s1|polo-like kinase 1 substrate 1 [Source:MGI Symbol;Acc:MGI:2684960]|Heterozygous||C|A|29|38.0|Non-synonymous|Line Propagating
765028|IGL00155|6|76980761|W->R|1.0|Probably damaging|MGI:88275|Ctnna2|catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|A|T|26|38.5|Non-synonymous|Line Propagating
765029|IGL00155|3|93445299|E->G||Unknown|MGI:2177944|Tchh|trichohyalin [Source:MGI Symbol;Acc:MGI:2177944]|Heterozygous||A|G|24|38.0|Non-synonymous|Line Propagating
765030|IGL00155|3|87952199|Y->C|1.0|Probably damaging|MGI:88491|Crabp2|cellular retinoic acid binding protein II [Source:MGI Symbol;Acc:MGI:88491]|Heterozygous|Homozygotes for targeted null mutations may exhibit an additional postaxial digit, usually on a single forepaw. Penetrance is dependent on the genetic background.|A|G|22|35.0|Non-synonymous|Line Propagating
765033|IGL00155|19|8130203|S->A|1.0|Probably damaging|MGI:3054746, MGI:3645714|Gm5631|predicted gene 5631 [Source:MGI Symbol;Acc:MGI:3645714]|Heterozygous||A|C|15|39.0|Non-synonymous|Line Propagating
765035|IGL00155|11|89301779|T->N|0.06|Benign|MGI:104327|Nog|noggin [Source:MGI Symbol;Acc:MGI:104327]|Heterozygous|Homozygotes for a targeted null mutation exhibit failed closure of neural tube, exencephaly, wide club-shaped limbs, loss of tail vertebrae, shortened body axis, abnormal cartilage condensations, and lethality at birth.|G|T|13|31.0|Non-synonymous|Line Propagating
765036|IGL00155|17|24287765|S->I||Benign|MGI:3625331|Abca17|ATP-binding cassette, sub-family A (ABC1), member 17 [Source:MGI Symbol;Acc:MGI:3625331]|Heterozygous||C|A|13|38.0|Non-synonymous|Line Propagating
765044|IGL00155|7|12631913|Disrupted splicing||N/A|MGI:3704110|Vmn2r54|vomeronasal 2, receptor 54 [Source:MGI Symbol;Acc:MGI:3704110]|Heterozygous||T|A|63|37.0|Splice|Line Propagating
765045|IGL00155|4|145292591|Disrupted splicing||N/A|MGI:99908|Tnfrsf8|tumor necrosis factor receptor superfamily, member 8 [Source:MGI Symbol;Acc:MGI:99908]|Heterozygous|Mice homozygous for a knock-out allele display an enlarged thymus, impaired activation-induced death of double-positive thymocytes after CD3 cross-linking, and decreased susceptibility to graft versus host disease.|T|C|61|39.0|Splice|Line Propagating
765046|IGL00155|11|68226619|Disrupted splicing||N/A|MGI:105088|Ntn1|netrin 1 [Source:MGI Symbol;Acc:MGI:105088]|Heterozygous|Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death.|G|T|55|38.0|Splice|Line Propagating
765048|IGL00155|8|3919945|Disrupted splicing||N/A|MGI:1916415|Cd209b|CD209b antigen [Source:MGI Symbol;Acc:MGI:1916415]|Heterozygous|Homozygous mutants are more susceptible to S. pneumoniae infection and fail to clear the bacteria from the circulation. Marginal zone and peritoneal macrophages are impaired in recognizing the bacteria.|T|A|20|39.0|Splice|Line Propagating
765050|IGL00155|X|135841892|Disrupted splicing||N/A|MGI:2442071|Gprasp2|G protein-coupled receptor associated sorting protein 2 [Source:MGI Symbol;Acc:MGI:2442071]|Heterozygous||C|A|16|39.0|Splice|Line Propagating
769382|IGL00159|4|116137690|T->A|0.03|Benign|MGI:1915325|1520402a15rik|RIKEN cDNA 1520402A15 gene [Source:MGI Symbol;Acc:MGI:1915325]|Heterozygous||T|C|141|38.0|Non-synonymous|Line Propagating
769385|IGL00159|7|99735317|R->H|0.64|Possibly damaging|MGI:3030354|Olfr520|olfactory receptor 520 [Source:MGI Symbol;Acc:MGI:3030354]|Heterozygous||G|A|89|30.0|Non-synonymous|Line Propagating
769388|IGL00159|2|5804935|Q->K|0.67|Possibly damaging|MGI:2138811|Cdc123|cell division cycle 123 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2138811]|Heterozygous||G|T|85|39.0|Non-synonymous|Line Propagating
769390|IGL00159|7|41428785|M->K||Benign|MGI:3703084|Vmn2r57|vomeronasal 2, receptor 57 [Source:MGI Symbol;Acc:MGI:3703084]|Heterozygous||A|T|80|39.0|Non-synonymous|Line Propagating
769391|IGL00159|9|7158839|V->A|0.04|Benign|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|A|G|80|38.5|Non-synonymous|Line Propagating
769392|IGL00159|12|76621331|D->G|0.02|Benign|MGI:98387|Spnb1|spectrin beta 1 [Source:MGI Symbol;Acc:MGI:98387]|Heterozygous|Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.|T|C|72|38.0|Non-synonymous|Line Propagating
769393|IGL00159|5|30375904|Y->C|0.98|Probably damaging|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|T|C|71|38.0|Non-synonymous|Line Propagating
769394|IGL00159|5|112874131|T->K||Benign|MGI:1921626|Myo18b|myosin XVIIIb [Source:MGI Symbol;Acc:MGI:1921626]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.|G|T|70|39.0|Non-synonymous|Line Propagating
769395|IGL00159|14|61232475|D->N||Benign|MGI:1354724, MGI:1346524|Sgcg,sacs|sarcoglycan, gamma (dystrophin-associated glycoprotein) [Source:MGI Symbol;Acc:MGI:1346524],sacsin [Source:MGI Symbol;Acc:MGI:1354724]|Heterozygous|NO_PHENOTYPE,Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy.|C|T|67|37.0|Non-synonymous|Line Propagating
769396|IGL00159|15|12457983|E->K|0.43|Benign|MGI:1922394|Pdzd2|PDZ domain containing 2 [Source:MGI Symbol;Acc:MGI:1922394]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.|C|T|67|39.0|Non-synonymous|Line Propagating
769399|IGL00159|15|91747799|K->E|0.99|Probably damaging|MGI:1913975|Lrrk2|leucine-rich repeat kinase 2 [Source:MGI Symbol;Acc:MGI:1913975]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.|A|G|60|39.0|Non-synonymous|Line Propagating
769400|IGL00159|2|65743090|I->N|1.0|Probably damaging|MGI:98248|Scn2a1|sodium channel, voltage-gated, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:98248]|Heterozygous|Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.|T|A|58|39.0|Non-synonymous|Line Propagating
769402|IGL00159|10|70282699|R->G|0.99|Probably damaging|MGI:1914109|Slc16a9|solute carrier family 16 (monocarboxylic acid transporters), member 9 [Source:MGI Symbol;Acc:MGI:1914109]|Heterozygous||A|G|53|39.0|Non-synonymous|Line Propagating
769404|IGL00159|6|136909502|S->C|0.92|Possibly damaging|MGI:1916437|Erp27|endoplasmic reticulum protein 27 [Source:MGI Symbol;Acc:MGI:1916437]|Heterozygous||T|A|52|36.0|Non-synonymous|Line Propagating
769405|IGL00159|4|52911618|M->L|0.43|Benign|MGI:3030106|Olfr272|olfactory receptor 272 [Source:MGI Symbol;Acc:MGI:3030106]|Heterozygous||T|G|51|39.0|Non-synonymous|Line Propagating
769407|IGL00159|15|57822870|E->V|1.0|Probably damaging|MGI:2683087|Zhx2|zinc fingers and homeoboxes 2 [Source:MGI Symbol;Acc:MGI:2683087]|Heterozygous||A|T|49|39.0|Non-synonymous|Line Propagating
769408|IGL00159|4|99063985|E->V|0.8|Possibly damaging|MGI:1914549|Dock7|dedicator of cytokinesis 7 [Source:MGI Symbol;Acc:MGI:1914549]|Heterozygous|Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot.|T|A|49|36.0|Non-synonymous|Line Propagating
769410|IGL00159|5|123603654|V->G|0.75|Possibly damaging|MGI:1928401|Clip1|CAP-GLY domain containing linker protein 1 [Source:MGI Symbol;Acc:MGI:1928401]|Heterozygous|Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia.|A|C|49|39.0|Non-synonymous|Line Propagating
769411|IGL00159|4|41392159|T->P|0.93|Possibly damaging|MGI:1918345|Kif24|kinesin family member 24 [Source:MGI Symbol;Acc:MGI:1918345]|Heterozygous||T|G|48|31.0|Non-synonymous|Line Propagating
769414|IGL00159|14|31286784|L->P|0.04|Benign|MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|A|G|42|33.5|Non-synonymous|Line Propagating
769416|IGL00159|17|26142805|D->V|0.87|Possibly damaging|MGI:1096327|Axin1|axin 1 [Source:MGI Symbol;Acc:MGI:1096327]|Heterozygous|Mutant homozygotes die at embryonic day 8-10, exhibiting neuroectodermal defects and axial duplications. Heterozygotes exhibit skeletal, cardiac, and neurological defects including short, bent tails, and deafness with circling behavior.|A|T|39|39.0|Non-synonymous|Line Propagating
769417|IGL00159|14|47529474|H->R||Benign|MGI:1926188|Fbxo34|F-box protein 34 [Source:MGI Symbol;Acc:MGI:1926188]|Heterozygous||A|G|37|37.0|Non-synonymous|Line Propagating
769422|IGL00159|17|31195008|D->V|0.31|Benign|MGI:2155445|Tmprss3|transmembrane protease, serine 3 [Source:MGI Symbol;Acc:MGI:2155445]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration.|T|A|33|37.0|Non-synonymous|Line Propagating
769424|IGL00159|9|66437682|Q->R|0.79|Possibly damaging|MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|A|G|32|39.0|Non-synonymous|Line Propagating
769427|IGL00159|18|12148891|I->V|1.0|Probably damaging|MGI:1914128|Riok3|RIO kinase 3 (yeast) [Source:MGI Symbol;Acc:MGI:1914128]|Heterozygous||A|G|31|39.0|Non-synonymous|Line Propagating
769428|IGL00159|19|31302340|V->L|0.16|Benign|MGI:108174|Prkg1|protein kinase, cGMP-dependent, type I [Source:MGI Symbol;Acc:MGI:108174]|Heterozygous|Mutant mice exhibit defects associated with disrupted NO/cGMP signalling, including abnormal smooth muscle function (peristalsis and heart contractility) and penile erectile deficiency. Conditional disruption in the hippocampus results in impaired LTP.|C|A|28|38.0|Non-synonymous|Line Propagating
769429|IGL00159|9|106471387|I->T||Benign|MGI:1891258|Parp3|poly (ADP-ribose) polymerase family, member 3 [Source:MGI Symbol;Acc:MGI:1891258]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal survival.|A|G|26|39.0|Non-synonymous|Line Propagating
769430|IGL00159|11|86565729|V->F|0.07|Benign|MGI:1891826|Tubd1|tubulin, delta 1 [Source:MGI Symbol;Acc:MGI:1891826]|Heterozygous||G|T|25|38.0|Non-synonymous|Line Propagating
769431|IGL00159|9|67945999|E->G|0.17|Benign|MGI:2444207|Vps13c|vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
769432|IGL00159|11|115344397|C->Y|1.0|Probably damaging|MGI:1916852|Otop3|otopetrin 3 [Source:MGI Symbol;Acc:MGI:1916852]|Heterozygous||G|A|24|38.0|Non-synonymous|Line Propagating
769433|IGL00159|16|11222612|M->V|0.85|Possibly damaging|MGI:1316728|Gspt1|G1 to S phase transition 1 [Source:MGI Symbol;Acc:MGI:1316728]|Heterozygous||T|C|24|39.0|Non-synonymous|Line Propagating
769434|IGL00159|2|125397873|V->A||Benign|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|A|G|23|37.0|Non-synonymous|Line Propagating
769435|IGL00159|13|53113082|D->G|0.22|Benign|MGI:1347521|Ror2|receptor tyrosine kinase-like orphan receptor 2 [Source:MGI Symbol;Acc:MGI:1347521]|Heterozygous|Mice homozygous for disruptions in this gene die within the first few hours after birth. They display respiratory and cardiovascular abnormalities as well as a variety of skeletal defects.|T|C|18|36.0|Non-synonymous|Line Propagating
769436|IGL00159|14|54884622|Q->Stop||N/A|MGI:108052|Bcl2l2|BCL2-like 2 [Source:MGI Symbol;Acc:MGI:108052]|Heterozygous|Homozygous null mutants are male sterile with progressive loss of germ cells, Sertoli cells and Leydig cells beginning at puberty.|C|T|18|39.0|Non-synonymous|Line Propagating
769438|IGL00159|11|100248685|S->I||Unknown|MGI:96690|Krt16|keratin 16 [Source:MGI Symbol;Acc:MGI:96690]|Heterozygous||C|A|12|38.5|Non-synonymous|Line Propagating
769441|IGL00159|1|130935055|Disrupted splicing||N/A|MGI:1890472|Il19|interleukin 19 [Source:MGI Symbol;Acc:MGI:1890472]|Heterozygous|Mice homozygous for a knock-out allele exhibit interleukin-23 (IL-23)-dependent epidermal hyperplasia.|A|G|73|39.0|Splice|Line Propagating
769444|IGL00159|13|76143278|Disrupted splicing||N/A|MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||T|C|43|39.0|Splice|Line Propagating
769445|IGL00159|7|118797047|Disrupted splicing||N/A|MGI:1918767|9030624j02rik|RIKEN cDNA 9030624J02 gene [Source:MGI Symbol;Acc:MGI:1918767]|Heterozygous||G|A|36|39.0|Splice|Line Propagating
770468|IGL00160|6|58215134|Y->C|0.02|Benign|MGI:2159470|Vmn1r27|vomeronasal 1 receptor 27 [Source:MGI Symbol;Acc:MGI:2159470]|Heterozygous||T|C|308|38.0|Non-synonymous|Line Propagating
770470|IGL00160|16|92321002|K->E|0.03|Benign|MGI:1922578|4930563d23rik|RIKEN cDNA 4930563D23 gene [Source:MGI Symbol;Acc:MGI:1922578]|Heterozygous||T|C|267|39.0|Non-synonymous|Line Propagating
770471|IGL00160|3|145578160|S->P|1.0|Probably damaging|MGI:1916996|Znhit6|zinc finger, HIT type 6 [Source:MGI Symbol;Acc:MGI:1916996]|Heterozygous||T|C|237|39.0|Non-synonymous|Line Propagating
770472|IGL00160|8|104949972|Q->H|1.0|Probably damaging|MGI:1919153|Ces2f|carboxylesterase 2F [Source:MGI Symbol;Acc:MGI:1919153]|Heterozygous||A|T|219|39.0|Non-synonymous|Line Propagating
770473|IGL00160|8|104949973|N->Y|0.9|Possibly damaging|MGI:1919153|Ces2f|carboxylesterase 2F [Source:MGI Symbol;Acc:MGI:1919153]|Heterozygous||A|T|212|39.0|Non-synonymous|Line Propagating
770476|IGL00160|19|30115240|T->A|1.0|Probably damaging|MGI:1341155|Gldc|glycine decarboxylase [Source:MGI Symbol;Acc:MGI:1341155]|Heterozygous||T|C|164|38.0|Non-synonymous|Line Propagating
770477|IGL00160|2|68732875|A->V|0.75|Possibly damaging|MGI:1922971|4932414n04rik|RIKEN cDNA 4932414N04 gene [Source:MGI Symbol;Acc:MGI:1922971]|Heterozygous||C|T|162|37.0|Non-synonymous|Line Propagating
770478|IGL00160|7|30482551|W->G|0.48|Possibly damaging|MGI:1859637|Nphs1|nephrosis 1 homolog, nephrin (human) [Source:MGI Symbol;Acc:MGI:1859637]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.|T|G|159|37.0|Non-synonymous|Line Propagating
770479|IGL00160|13|100061198|M->K||Unknown|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||A|T|153|38.0|Non-synonymous|Line Propagating
770480|IGL00160|3|126838272|C->Stop||N/A|MGI:1341265|Camk2d|calcium/calmodulin-dependent protein kinase II, delta [Source:MGI Symbol;Acc:MGI:1341265]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress.|T|A|153|39.0|Non-synonymous|Line Propagating
770485|IGL00160|10|78057355|D->G|1.0|Probably damaging|MGI:1859287|Dnmt3l|DNA (cytosine-5-)-methyltransferase 3-like [Source:MGI Symbol;Acc:MGI:1859287]|Heterozygous|Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation.|A|G|128|38.0|Non-synonymous|Line Propagating
770488|IGL00160|7|34239006|H->Y|0.95|Possibly damaging|MGI:1924311|4931406p16rik|RIKEN cDNA 4931406P16 gene [Source:MGI Symbol;Acc:MGI:1924311]|Heterozygous||G|A|119|38.0|Non-synonymous|Line Propagating
770489|IGL00160|5|74002686|E->G|0.03|Benign|MGI:1916977|Usp46|ubiquitin specific peptidase 46 [Source:MGI Symbol;Acc:MGI:1916977]|Heterozygous||T|C|117|39.0|Non-synonymous|Line Propagating
770490|IGL00160|19|40318029|T->S|0.09|Benign|MGI:700014|Sorbs1|sorbin and SH3 domain containing 1 [Source:MGI Symbol;Acc:MGI:700014]|Heterozygous|Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.|T|A|112|36.0|Non-synonymous|Line Propagating
770491|IGL00160|12|58212750|E->G||Benign|MGI:98327|Sstr1|somatostatin receptor 1 [Source:MGI Symbol;Acc:MGI:98327]|Heterozygous|Homozygous null mice display abnormal eye electrophysiology. Mice homozygous for a second targeted mutation display hypoactivity.|A|G|111|38.0|Non-synonymous|Line Propagating
770492|IGL00160|14|33971069|M->V||Benign|MGI:2686052|Zfp488|zinc finger protein 488 [Source:MGI Symbol;Acc:MGI:2686052]|Heterozygous||T|C|110|37.0|Non-synonymous|Line Propagating
770495|IGL00160|1|66654395|H->L||Unknown|MGI:2652882|Unc80|unc-80 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2652882]|Heterozygous||A|T|94|39.0|Non-synonymous|Line Propagating
770496|IGL00160|17|44037069|T->I|0.45|Possibly damaging|MGI:1858219|Rcan2|regulator of calcineurin 2 [Source:MGI Symbol;Acc:MGI:1858219]|Heterozygous|Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity.|C|T|94|39.0|Non-synonymous|Line Propagating
770497|IGL00160|12|76623169|K->E|1.0|Probably damaging|MGI:98387|Spnb1|spectrin beta 1 [Source:MGI Symbol;Acc:MGI:98387]|Heterozygous|Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.|T|C|92|36.0|Non-synonymous|Line Propagating
770498|IGL00160|2|21212449|F->S|1.0|Probably damaging|MGI:2139347|Thnsl1|threonine synthase-like 1 (bacterial) [Source:MGI Symbol;Acc:MGI:2139347]|Heterozygous||T|C|91|39.0|Non-synonymous|Line Propagating
770501|IGL00160|3|62340383|V->A||Benign|MGI:1918053|Arhgef26|Rho guanine nucleotide exchange factor (GEF) 26 [Source:MGI Symbol;Acc:MGI:1918053]|Heterozygous||T|C|88|36.0|Non-synonymous|Line Propagating
770503|IGL00160|13|40142804|D->G|0.99|Probably damaging|MGI:2658851|Ofcc1|orofacial cleft 1 candidate 1 [Source:MGI Symbol;Acc:MGI:2658851]|Heterozygous||T|C|80|39.0|Non-synonymous|Line Propagating
770505|IGL00160|1|133902108|Y->C||N/A|MGI:2151113|Optc|opticin [Source:MGI Symbol;Acc:MGI:2151113]|Heterozygous||T|C|77|38.0|Non-synonymous|Line Propagating
770506|IGL00160|9|76228155|V->D||Unknown|MGI:2680765|Hcrtr2|hypocretin (orexin) receptor 2 [Source:MGI Symbol;Acc:MGI:2680765]|Heterozygous||A|T|76|37.0|Non-synonymous|Line Propagating
770507|IGL00160|11|5289039|H->R|0.98|Probably damaging|MGI:3039616|Znrf3|zinc and ring finger 3 [Source:MGI Symbol;Acc:MGI:3039616]|Heterozygous||T|C|74|34.5|Non-synonymous|Line Propagating
770509|IGL00160|6|145175290|H->L|0.06|Benign|MGI:2444480|Casc1|cancer susceptibility candidate 1 [Source:MGI Symbol;Acc:MGI:2444480]|Heterozygous|Mice with disruptions of this gene display a higher incidence of lung tumors.|T|A|69|38.0|Non-synonymous|Line Propagating
770510|IGL00160|7|47426538|M->K|0.19|Benign|MGI:3821888|Mrgpra2a|MAS-related GPR, member A2A [Source:MGI Symbol;Acc:MGI:3821888]|Heterozygous||A|T|68|39.0|Non-synonymous|Line Propagating
770514|IGL00160|11|51645316|A->T|0.01|Benign|MGI:2442218|N4bp3|NEDD4 binding protein 3 [Source:MGI Symbol;Acc:MGI:2442218]|Heterozygous||C|T|55|38.0|Non-synonymous|Line Propagating
770518|IGL00160|7|30078511|Q->K|0.19|Benign|MGI:1919806|Zfp566|zinc finger protein 566 [Source:MGI Symbol;Acc:MGI:1919806]|Heterozygous||G|T|49|38.0|Non-synonymous|Line Propagating
770524|IGL00160|14|24191161|T->A|0.01|Benign|MGI:1918478|Dlg5|discs, large homolog 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918478]|Heterozygous|Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.|T|C|40|38.0|Non-synonymous|Line Propagating
770525|IGL00160|9|110841005|A->E|0.89|Possibly damaging|MGI:3605764|Prss45|protease, serine, 45 [Source:MGI Symbol;Acc:MGI:3605764]|Heterozygous||C|A|38|39.0|Non-synonymous|Line Propagating
770528|IGL00160|5|89861325|V->I|0.76|Possibly damaging|MGI:3045353|Adamts3|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3 [Source:MGI Symbol;Acc:MGI:3045353]|Heterozygous||C|T|33|39.0|Non-synonymous|Line Propagating
770529|IGL00160|X|123142855|Y->S|0.9|Possibly damaging|MGI:1920311|3110007f17rik|RIKEN cDNA 3110007F17 gene [Source:MGI Symbol;Acc:MGI:1920311]|Heterozygous||A|C|29|36.0|Non-synonymous|Line Propagating
770531|IGL00160|10|52417773|V->G|0.98|Probably damaging|MGI:1196365|Nus1|nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1196365]|Heterozygous||T|G|13|32.0|Non-synonymous|Line Propagating
770532|IGL00160|17|36901755|E->G||Benign|MGI:2385051|Trim31|tripartite motif-containing 31 [Source:MGI Symbol;Acc:MGI:2385051]|Heterozygous||A|G|11|30.0|Non-synonymous|Line Propagating
770533|IGL00160|19|42766737|E->D|0.01|Benign|MGI:2177763|Hps1|Hermansky-Pudlak syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2177763]|Heterozygous|Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.|C|A|10|35.5|Non-synonymous|Line Propagating
770534|IGL00160|7|45377354|Disrupted splicing||N/A|MGI:98341|Snrnp70|small nuclear ribonucleoprotein 70 (U1) [Source:MGI Symbol;Acc:MGI:98341]|Heterozygous||A|G|300|37.0|Splice|Line Propagating
770535|IGL00160|1|157099756|Disrupted splicing||N/A|MGI:1920685|1700057k13rik|RIKEN cDNA 1700057K13 gene [Source:MGI Symbol;Acc:MGI:1920685]|Heterozygous||G|A|265|39.0|Splice|Line Propagating
770536|IGL00160|8|3636354|Disrupted splicing||N/A|MGI:107370|Stxbp2|syntaxin binding protein 2 [Source:MGI Symbol;Acc:MGI:107370]|Heterozygous||A|T|233|38.0|Splice|Line Propagating
777460|IGL00227|6|115917057|H->L|0.03|Benign|MGI:1932386|Ift122|intraflagellar transport 122 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1932386]|Heterozygous|Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects.|A|T|468|36.0|Non-synonymous|Line Propagating
777461|IGL00227|11|74289126|T->I|1.0|Probably damaging|MGI:1333755|Olfr59|olfactory receptor 59 [Source:MGI Symbol;Acc:MGI:1333755]|Heterozygous||C|T|413|38.0|Non-synonymous|Line Propagating
777462|IGL00227|1|119476040|D->V|0.07|Benign|MGI:1927244|Ralb|v-ral simian leukemia viral oncogene homolog B (ras related) [Source:MGI Symbol;Acc:MGI:1927244]|Heterozygous||T|A|351|35.0|Non-synonymous|Line Propagating
777463|IGL00227|10|24282593|H->Y|0.11|Benign|MGI:1921582|Moxd1|monooxygenase, DBH-like 1 [Source:MGI Symbol;Acc:MGI:1921582]|Heterozygous||C|T|258|39.0|Non-synonymous|Line Propagating
777464|IGL00227|15|101527773|M->I|0.61|Possibly damaging|MGI:96700|Krt84|keratin 84 [Source:MGI Symbol;Acc:MGI:96700]|Heterozygous||C|A|194|37.0|Non-synonymous|Line Propagating
777465|IGL00227|11|116767706|I->V|1.0|Probably damaging|MGI:1341826|St6galnac1|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [Source:MGI Symbol;Acc:MGI:1341826]|Heterozygous||T|C|127|35.0|Non-synonymous|Line Propagating
777466|IGL00227|13|13987431|N->D|0.78|Possibly damaging|MGI:2145517|B3galnt2|UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:2145517]|Heterozygous||A|G|125|38.0|Non-synonymous|Line Propagating
777467|IGL00227|8|3523808|R->W|1.0|Probably damaging|MGI:1354723|Pnpla6|patatin-like phospholipase domain containing 6 [Source:MGI Symbol;Acc:MGI:1354723]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration.|C|T|125|37.0|Non-synonymous|Line Propagating
777468|IGL00227|9|3409990|Q->K||Benign|MGI:1918023|Cwf19l2|CWF19-like 2, cell cycle control (S. pombe) [Source:MGI Symbol;Acc:MGI:1918023]|Heterozygous||C|A|124|40.0|Non-synonymous|Line Propagating
777469|IGL00227|7|91965645|I->T|0.41|Benign|MGI:1344351|Dlg2|discs, large homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1344351]|Heterozygous|Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.|T|C|114|39.0|Non-synonymous|Line Propagating
777470|IGL00227|6|125338379|T->A|0.08|Benign|MGI:101782|Scnn1a|sodium channel, nonvoltage-gated 1 alpha [Source:MGI Symbol;Acc:MGI:101782]|Heterozygous|Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid.|A|G|106|35.0|Non-synonymous|Line Propagating
777471|IGL00227|15|103526680|S->F|0.96|Probably damaging|MGI:97523|Pde1b|phosphodiesterase 1B, Ca2+-calmodulin dependent [Source:MGI Symbol;Acc:MGI:97523]|Heterozygous|Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations.|C|T|98|37.5|Non-synonymous|Line Propagating
777472|IGL00227|8|27385101|F->L|0.98|Probably damaging|MGI:106212|Chrnb3|cholinergic receptor, nicotinic, beta polypeptide 3 [Source:MGI Symbol;Acc:MGI:106212]|Heterozygous|Mice homozygous for disruptions in this gene display hyperactivity and reflex abnormalities but were otherwise phenotypically normal.|T|C|97|35.0|Non-synonymous|Line Propagating
777473|IGL00227|11|30110818|E->Stop||N/A|MGI:3527566, MGI:3527564, MGI:3512171, MGI:1347107, MGI:3042417, MGI:98388, MGI:3042916, MGI:3527565, MGI:3042918, MGI:4418084, MGI:3527560, MGI:3525633, MGI:3527569, MGI:3527570, MGI:3527563, MGI:3042915, MGI:3038861, MGI:3042917|Spnb2|spectrin beta 2 [Source:MGI Symbol;Acc:MGI:98388]|Heterozygous|Homozygotes for a targeted null mutation exhibit gastrointestinal, hepatic, neural, and cardiac defects. Mutants die around midgestation.|C|A|81|39.0|Non-synonymous|Line Propagating
777474|IGL00227|12|101049794|L->P|0.98|Probably damaging|MGI:1915984|Smek1|SMEK homolog 1, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:1915984]|Heterozygous||A|G|81|40.0|Non-synonymous|Line Propagating
777475|IGL00227|14|65813891|I->T|0.99|Probably damaging|MGI:1289156|Pbk|PDZ binding kinase [Source:MGI Symbol;Acc:MGI:1289156]|Heterozygous||T|C|81|39.0|Non-synonymous|Line Propagating
777476|IGL00227|7|104881517|T->I|0.04|Benign|MGI:3030499|Olfr665|olfactory receptor 665 [Source:MGI Symbol;Acc:MGI:3030499]|Heterozygous||C|T|79|40.0|Non-synonymous|Line Propagating
777477|IGL00227|8|117131075|C->R||N/A|MGI:1926923|Bcmo1|beta-carotene 15,15'-monooxygenase [Source:MGI Symbol;Acc:MGI:1926923]|Heterozygous|Mice homozygous for a null mutation display fatty livers, elevated serum free fatty acid levels, increased susceptibility to diet-induced obesity, and impaired conversion of beta-carotene to vitamin A.|T|C|77|39.0|Non-synonymous|Line Propagating
777478|IGL00227|3|108356307|L->P|0.86|Possibly damaging|MGI:1338015|Sort1|sortilin 1 [Source:MGI Symbol;Acc:MGI:1338015]|Heterozygous|Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose.|T|C|76|39.0|Non-synonymous|Line Propagating
777479|IGL00227|7|43675504|F->L|0.63|Possibly damaging|MGI:2385277|Ctu1|cytosolic thiouridylase subunit 1 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:2385277]|Heterozygous||C|A|76|35.0|Non-synonymous|Line Propagating
777480|IGL00227|11|78400548|T->A|0.84|Possibly damaging|MGI:1276558|Slc13a2|solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 [Source:MGI Symbol;Acc:MGI:1276558]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased Kreb cycle intermediates in the urine but otherwise have normal kidney function and response to ischemia-reperfusion injury and caloric restriction.|T|C|68|39.0|Non-synonymous|Line Propagating
777481|IGL00227|7|130728635|D->E|1.0|Probably damaging|MGI:1928899|Tacc2|transforming, acidic coiled-coil containing protein 2 [Source:MGI Symbol;Acc:MGI:1928899]|Heterozygous|Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis.|C|A|67|32.0|Non-synonymous|Line Propagating
777482|IGL00227|1|194644657|C->S|1.0|Probably damaging|MGI:107684|Plxna2|plexin A2 [Source:MGI Symbol;Acc:MGI:107684]|Heterozygous|Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.|T|A|54|37.0|Non-synonymous|Line Propagating
777483|IGL00227|14|31286896|V->M|1.0|Probably damaging|MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|C|T|48|38.0|Non-synonymous|Line Propagating
777484|IGL00227|18|44276444|T->S|1.0|Probably damaging|MGI:1098590|Npy6r|neuropeptide Y receptor Y6 [Source:MGI Symbol;Acc:MGI:1098590]|Heterozygous||A|T|43|37.0|Non-synonymous|Line Propagating
777485|IGL00227|12|102562799|E->G|0.9|Possibly damaging|MGI:88394|Chga|chromogranin A [Source:MGI Symbol;Acc:MGI:88394]|Heterozygous|Homozygotes and heterozygotes for one allele display hypertension, abnormal plasma and adrenal adrenaline and noradrenaline levels and, in homozygotes, partial embryonic lethality. Homozygotes for a second allele only have elevated urinary adrenaline, noradrenaline and dopamine levels.|A|G|39|37.0|Non-synonymous|Line Propagating
777486|IGL00227|13|31626189|P->Q||Unknown|MGI:1347479|Foxf2|forkhead box F2 [Source:MGI Symbol;Acc:MGI:1347479]|Heterozygous|Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities.|C|A|35|35.0|Non-synonymous|Line Propagating
777487|IGL00227|6|85677964|E->G|0.94|Possibly damaging|MGI:1934606|Alms1|Alstrom syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1934606]|Heterozygous|Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.|A|G|35|39.0|Non-synonymous|Line Propagating
777488|IGL00227|7|118140544|Q->H|0.04|Benign|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||C|A|32|38.0|Non-synonymous|Line Propagating
777489|IGL00227|8|111688639|E->D||Benign|MGI:88559|Ctrb1|chymotrypsinogen B1 [Source:MGI Symbol;Acc:MGI:88559]|Heterozygous||C|A|26|37.5|Non-synonymous|Line Propagating
777490|IGL00227|5|100893176|W->C|1.0|Probably damaging|MGI:3603816|Agpat9|1-acylglycerol-3-phosphate O-acyltransferase 9 [Source:MGI Symbol;Acc:MGI:3603816]|Heterozygous||G|T|22|40.0|Non-synonymous|Line Propagating
777492|IGL00227|9|110547229|Q->H||Benign|MGI:1918177|Setd2|SET domain containing 2 [Source:MGI Symbol;Acc:MGI:1918177]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5.|G|T|18|39.5|Non-synonymous|Line Propagating
777493|IGL00227|12|71074960|A->E|0.49|Possibly damaging|MGI:2444354|Arid4a|AT rich interactive domain 4A (RBP1-like) [Source:MGI Symbol;Acc:MGI:2444354]|Heterozygous|Mice homozygous for a knock-out allelle exhibit altered DNA methylation patterns, disrupted hematopoeisis and a portion develop acute myeloid leukemia.|C|A|15|37.0|Non-synonymous|Line Propagating
777494|IGL00227|8|95343157|T->I|0.93|Possibly damaging|MGI:2142454|Aa960436|expressed sequence AA960436 [Source:MGI Symbol;Acc:MGI:2142454]|Heterozygous||C|T|15|38.0|Non-synonymous|Line Propagating
777495|IGL00227|7|43456588|A->V|0.98|Probably damaging|MGI:106098|Etfb|electron transferring flavoprotein, beta polypeptide [Source:MGI Symbol;Acc:MGI:106098]|Heterozygous||C|T|14|37.0|Non-synonymous|Line Propagating
777496|IGL00227|9|88584147|R->W|0.88|Possibly damaging|MGI:3645218|Trim43a|tripartite motif-containing 43A [Source:MGI Symbol;Acc:MGI:3645218]|Heterozygous||C|T|14|37.0|Non-synonymous|Line Propagating
777497|IGL00227|1|184907095|A->E||Benign|MGI:2664902|Mark1|MAP/microtubule affinity-regulating kinase 1 [Source:MGI Symbol;Acc:MGI:2664902]|Heterozygous||G|T|13|36.0|Non-synonymous|Line Propagating
777498|IGL00227|8|69895272|W->L|0.54|Possibly damaging|MGI:1914434|Ndufa13|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 [Source:MGI Symbol;Acc:MGI:1914434]|Heterozygous|Homozygous null mice display embryonic lethality, failed gastrulation, absent organogenesis, small and abnormal inner cell mass and trophoblast, and abnormal mitochondria.|C|A|13|37.0|Non-synonymous|Line Propagating
777499|IGL00227|X|48173609|M->I||Benign|MGI:2444393|Zdhhc9|zinc finger, DHHC domain containing 9 [Source:MGI Symbol;Acc:MGI:2444393]|Heterozygous||C|A|13|41.0|Non-synonymous|Line Propagating
777500|IGL00227|2|25939182|S->R|0.92|Possibly damaging|MGI:3036242|Camsap1|calmodulin regulated spectrin-associated protein 1 [Source:MGI Symbol;Acc:MGI:3036242]|Heterozygous||G|T|10|35.5|Non-synonymous|Line Propagating
777501|IGL00227|2|28830507|W->C|1.0|Probably damaging|MGI:2138937|Gtf3c4|general transcription factor IIIC, polypeptide 4 [Source:MGI Symbol;Acc:MGI:2138937]|Heterozygous||C|A|10|37.5|Non-synonymous|Line Propagating
777506|IGL00227|14|30942889|Disrupted splicing||N/A|MGI:96618|Itih1|inter-alpha trypsin inhibitor, heavy chain 1 [Source:MGI Symbol;Acc:MGI:96618]|Heterozygous||C|T|198|38.0|Splice|Line Propagating
777507|IGL00227|17|84688529|Disrupted splicing||N/A|MGI:1914720|Abcg8|ATP-binding cassette, sub-family G (WHITE), member 8 [Source:MGI Symbol;Acc:MGI:1914720]|Heterozygous|Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels.|C|A|66|38.0|Splice|Line Propagating
777508|IGL00227|7|19622924|Disrupted splicing||N/A|MGI:103289|Relb|avian reticuloendotheliosis viral (v-rel) oncogene related B [Source:MGI Symbol;Acc:MGI:103289]|Heterozygous|Homozygotes for targeted and insertional null mutations exhibit inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, and epidermal hyperplasia.|A|C|50|38.0|Splice|Line Propagating
777509|IGL00227|8|33776445|Disrupted splicing||N/A|MGI:1915403|Gtf2e2|general transcription factor II E, polypeptide 2 (beta subunit) [Source:MGI Symbol;Acc:MGI:1915403]|Heterozygous||T|C|45|37.0|Splice|Line Propagating
777511|IGL00227|5|35019513|Disrupted splicing||N/A|MGI:1918979|Rgs12|regulator of G-protein signaling 12 [Source:MGI Symbol;Acc:MGI:1918979]|Heterozygous||G|T|20|34.0|Splice|Line Propagating
777512|IGL00227|7|109027746|Disrupted splicing||N/A|MGI:2651573|Tub|tubby candidate gene [Source:MGI Symbol;Acc:MGI:2651573]|Heterozygous|Homozygous mutants exhibit a late-developing obesity with hyperinsulinemia, retinal degeneration, and hearing loss associated with death of both outer and inner hair cells.|C|A|14|37.0|Splice|Line Propagating
777513|IGL00227|X|152037584|Disrupted splicing||N/A|MGI:1344345|Smc1a|structural maintenance of chromosomes 1A [Source:MGI Symbol;Acc:MGI:1344345]|Heterozygous|Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure.|C|A|13|37.0|Splice|Line Propagating
777514|IGL00227|2|127788855|Disrupted splicing||N/A|MGI:1858233|Nphp1|nephronophthisis 1 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1858233]|Heterozygous|Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor degeneration.|C|A|10|33.5|Splice|Line Propagating
784667|IGL00236|19|13633539|I->F|0.13|Benign|MGI:3031323|Olfr1489|olfactory receptor 1489 [Source:MGI Symbol;Acc:MGI:3031323]|Heterozygous||A|T|223|39.0|Non-synonymous|Line Propagating
784668|IGL00236|1|52102878|Y->F|0.71|Possibly damaging|MGI:103062|Stat4|signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]|Heterozygous||A|T|193|38.0|Non-synonymous|Line Propagating
784669|IGL00236|1|71652873|I->T|0.07|Benign|MGI:95566|Fn1|fibronectin 1 [Source:MGI Symbol;Acc:MGI:95566]|Heterozygous|Mutants are defective in mesodermal function. Null mutants are embryonic lethal with major patterning and organizational defects. Conditional mutants live and show increased neuronal apoptosis and susceptibility to induced cerebral ischemia.|A|G|192|33.0|Non-synonymous|Line Propagating
784670|IGL00236|2|162967063|S->P|1.0|Probably damaging|MGI:2676663|L3mbtl1|l(3)mbt-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2676663]|Heterozygous||T|C|186|35.0|Non-synonymous|Line Propagating
784671|IGL00236|11|67283818|I->T|0.39|Benign|MGI:1339712|Myh8|myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]|Heterozygous||T|C|168|39.0|Non-synonymous|Line Propagating
784672|IGL00236|14|121668468|L->S|0.03|Benign|MGI:106321|Dock9|dedicator of cytokinesis 9 [Source:MGI Symbol;Acc:MGI:106321]|Heterozygous||A|G|130|34.0|Non-synonymous|Line Propagating
784673|IGL00236|10|52194890|I->V|0.97|Probably damaging|MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|T|C|128|38.0|Non-synonymous|Line Propagating
784674|IGL00236|5|43765336|H->N|1.0|Probably damaging|MGI:2152883|Fbxl5|F-box and leucine-rich repeat protein 5 [Source:MGI Symbol;Acc:MGI:2152883]|Heterozygous||G|T|117|39.0|Non-synonymous|Line Propagating
784675|IGL00236|17|53462453|D->G|1.0|Probably damaging|MGI:3045296|Efhb|EF hand domain family, member B [Source:MGI Symbol;Acc:MGI:3045296]|Heterozygous||T|C|116|38.0|Non-synonymous|Line Propagating
784676|IGL00236|7|102909272|H->R|1.0|Probably damaging|MGI:3030405|Olfr571|olfactory receptor 571 [Source:MGI Symbol;Acc:MGI:3030405]|Heterozygous||T|C|111|35.0|Non-synonymous|Line Propagating
784677|IGL00236|6|148843071|I->T|1.0|Probably damaging|MGI:2448541|Caprin2|caprin family member 2 [Source:MGI Symbol;Acc:MGI:2448541]|Heterozygous||A|G|105|38.0|Non-synonymous|Line Propagating
784678|IGL00236|8|105702814|S->P|0.96|Probably damaging|MGI:1927223|Pard6a|par-6 (partitioning defective 6,) homolog alpha (C. elegans) [Source:MGI Symbol;Acc:MGI:1927223]|Heterozygous||T|C|102|34.5|Non-synonymous|Line Propagating
784679|IGL00236|14|75766925|G->D|0.02|Benign|MGI:1914804|Slc25a30|solute carrier family 25, member 30 [Source:MGI Symbol;Acc:MGI:1914804]|Heterozygous||C|T|100|37.0|Non-synonymous|Line Propagating
784680|IGL00236|12|9019900|V->I|0.01|Benign|MGI:1921932|Wdr35|WD repeat domain 35 [Source:MGI Symbol;Acc:MGI:1921932]|Heterozygous||G|A|95|39.0|Non-synonymous|Line Propagating
784681|IGL00236|13|99330065|N->D|1.0|Probably damaging|MGI:1916177|Ptcd2|pentatricopeptide repeat domain 2 [Source:MGI Symbol;Acc:MGI:1916177]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal mitochondrial morphology and physiology, especially in the heart, liver, skeletal muscle and kidney.|T|C|95|40.0|Non-synonymous|Line Propagating
784682|IGL00236|15|76284794|D->G|0.1|Benign|MGI:1921531|Spatc1|spermatogenesis and centriole associated 1 [Source:MGI Symbol;Acc:MGI:1921531]|Heterozygous||A|G|81|35.0|Non-synonymous|Line Propagating
784683|IGL00236|2|26408521|Q->K||Benign|MGI:1927753|Inpp5e|inositol polyphosphate-5-phosphatase E [Source:MGI Symbol;Acc:MGI:1927753]|Heterozygous|Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects.|G|T|77|38.0|Non-synonymous|Line Propagating
784684|IGL00236|9|76490978|I->V||Benign|MGI:2685362|Fam83b|family with sequence similarity 83, member B [Source:MGI Symbol;Acc:MGI:2685362]|Heterozygous||T|C|77|37.0|Non-synonymous|Line Propagating
784685|IGL00236|11|120106602|R->G|0.06|Benign|MGI:1919305|Slc38a10|solute carrier family 38, member 10 [Source:MGI Symbol;Acc:MGI:1919305]|Heterozygous||T|C|72|37.0|Non-synonymous|Line Propagating
784686|IGL00236|3|87791438|V->M|0.75|Possibly damaging|MGI:97383|Ntrk1|neurotrophic tyrosine kinase, receptor, type 1 [Source:MGI Symbol;Acc:MGI:97383]|Heterozygous|Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.|C|T|67|36.0|Non-synonymous|Line Propagating
784687|IGL00236|12|87443697|V->A|1.0|Probably damaging|MGI:2384034, MGI:1919868|2700073g19rik,alkbh1|alkB, alkylation repair homolog 1 (E. coli) [Source:MGI Symbol;Acc:MGI:2384034],RIKEN cDNA 2700073G19 gene [Source:MGI Symbol;Acc:MGI:1919868]|Heterozygous|NO_PHENOTYPE,Mice homozygous for a null allele show delayed fetal growth, impaired placental development and low birth weight. Mice homozygous for another null allele show sex-ratio distortion, reduced survival, spermatogenic defects and incompletely penetrant eye, neural tube, skeleton and craniofacial defects.|A|G|64|33.0|Non-synonymous|Line Propagating
784688|IGL00236|16|44407404|L->P|0.99|Probably damaging|MGI:1277238|Wdr52|WD repeat domain 52 [Source:MGI Symbol;Acc:MGI:1277238]|Heterozygous||T|C|53|37.0|Non-synonymous|Line Propagating
784689|IGL00236|9|103365221|G->W||Unknown|MGI:2448759|Cdv3|carnitine deficiency-associated gene expressed in ventricle 3 [Source:MGI Symbol;Acc:MGI:2448759]|Heterozygous||C|A|50|37.0|Non-synonymous|Line Propagating
784690|IGL00236|15|81641418|D->G||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|A|G|45|39.0|Non-synonymous|Line Propagating
784691|IGL00236|2|127028281|L->P|1.0|Probably damaging|MGI:1336993|Ap4e1|adaptor-related protein complex AP-4, epsilon 1 [Source:MGI Symbol;Acc:MGI:1336993]|Heterozygous||T|C|35|39.0|Non-synonymous|Line Propagating
784692|IGL00236|9|110829470|Q->H|0.03|Benign|MGI:2684822|Prss43|protease, serine, 43 [Source:MGI Symbol;Acc:MGI:2684822]|Heterozygous||G|T|27|36.0|Non-synonymous|Line Propagating
784693|IGL00236|14|31379390|K->Stop||N/A|MGI:1344391|Sh3bp5|SH3-domain binding protein 5 (BTK-associated) [Source:MGI Symbol;Acc:MGI:1344391]|Heterozygous||T|A|24|36.0|Non-synonymous|Line Propagating
784694|IGL00236|6|18028130|G->V|0.01|Benign|MGI:98954|Wnt2|wingless-related MMTV integration site 2 [Source:MGI Symbol;Acc:MGI:98954]|Heterozygous|Homozygous mutants exhibit impaired placental vascularization, runting and 50% perinatal mortality resulting from difficulties in breathing and nursing. Survivors of the perinatal period tend to recover, and adults are healthy and fertile.|C|A|22|38.5|Non-synonymous|Line Propagating
784695|IGL00236|18|76960854|H->N||N/A|MGI:1924237|Hdhd2|haloacid dehalogenase-like hydrolase domain containing 2 [Source:MGI Symbol;Acc:MGI:1924237]|Heterozygous||C|A|19|37.0|Non-synonymous|Line Propagating
784696|IGL00236|16|90934700|K->N|1.0|Probably damaging|MGI:1915251|1110004e09rik|RIKEN cDNA 1110004E09 gene [Source:MGI Symbol;Acc:MGI:1915251]|Heterozygous||C|A|15|37.0|Non-synonymous|Line Propagating
784697|IGL00236|12|75946820|T->K|0.99|Probably damaging|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|C|A|13|37.0|Non-synonymous|Line Propagating
784698|IGL00236|6|142797845|D->Y|0.99|Probably damaging|MGI:2685612|Gm766|predicted gene 766 [Source:MGI Symbol;Acc:MGI:2685612]|Heterozygous||C|A|13|38.0|Non-synonymous|Line Propagating
784702|IGL00236|13|23705852|Disrupted splicing||N/A|MGI:109191|Hfe|hemochromatosis [Source:MGI Symbol;Acc:MGI:109191]|Heterozygous|Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load, but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal.|C|T|279|37.0|Splice|Line Propagating
784703|IGL00236|2|113827570|Disrupted splicing||N/A|MGI:98289|Scg5|secretogranin V [Source:MGI Symbol;Acc:MGI:98289]|Heterozygous|Mice homozygous for disruptions in this gene often die before weaning and display a variety of metabolic defects.|A|G|69|38.0|Splice|Line Propagating
784704|IGL00236|10|5368309|Disrupted splicing||N/A|MGI:1927152|Syne1|synaptic nuclear envelope 1 [Source:MGI Symbol;Acc:MGI:1927152]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|A|G|64|37.0|Splice|Line Propagating
784705|IGL00236|17|80525276|Disrupted splicing||N/A|MGI:3587025|Cdkl4|cyclin-dependent kinase-like 4 [Source:MGI Symbol;Acc:MGI:3587025]|Heterozygous||A|T|59|36.0|Splice|Line Propagating
785463|IGL00234|2|37389747|V->A|0.26|Benign|MGI:2442789|Rc3h2|ring finger and CCCH-type zinc finger domains 2 [Source:MGI Symbol;Acc:MGI:2442789]|Heterozygous||A|G|225|38.0|Non-synonymous|Line Propagating
785464|IGL00234|3|51690704|I->T||Benign|MGI:2389461|Maml3|mastermind like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2389461]|Heterozygous||A|G|196|36.0|Non-synonymous|Line Propagating
785465|IGL00234|9|69760198|S->P|1.0|Probably damaging|MGI:1927549|Foxb1|forkhead box B1 [Source:MGI Symbol;Acc:MGI:1927549]|Heterozygous|Targeted null mutant mice show variable embryonic lethality with neural tube defects or severe posterior reduction. Survivors have high postnatal mortality, reduced growth, motor weakness, midbrain abnormalities and females have a lactational defect.|A|G|152|35.0|Non-synonymous|Line Propagating
785466|IGL00234|8|107585710|V->A|1.0|Probably damaging|MGI:1351511|Psmd7|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 [Source:MGI Symbol;Acc:MGI:1351511]|Heterozygous|Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage.|A|G|130|35.0|Non-synonymous|Line Propagating
785467|IGL00234|4|123286704|N->S|0.98|Probably damaging|MGI:2385206|Pabpc4|poly(A) binding protein, cytoplasmic 4 [Source:MGI Symbol;Acc:MGI:2385206]|Heterozygous||A|G|129|39.0|Non-synonymous|Line Propagating
785468|IGL00234|9|111392609|F->L|1.0|Probably damaging|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|C|127|35.0|Non-synonymous|Line Propagating
785469|IGL00234|7|19678740|S->T|0.6|Possibly damaging|MGI:87878|Apoc4|apolipoprotein C-IV [Source:MGI Symbol;Acc:MGI:87878]|Heterozygous||A|T|122|38.0|Non-synonymous|Line Propagating
785470|IGL00234|11|87893365|R->S|1.0|Probably damaging|MGI:3030297|Olfr463|olfactory receptor 463 [Source:MGI Symbol;Acc:MGI:3030297]|Heterozygous||T|G|110|37.0|Non-synonymous|Line Propagating
785471|IGL00234|10|7691566|I->V|0.99|Probably damaging|MGI:1333883|Lats1|large tumor suppressor [Source:MGI Symbol;Acc:MGI:1333883]|Heterozygous|Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors.|A|G|103|37.0|Non-synonymous|Line Propagating
785472|IGL00234|16|30351279|Q->L|0.91|Possibly damaging|MGI:2685387|Atp13a3|ATPase type 13A3 [Source:MGI Symbol;Acc:MGI:2685387]|Heterozygous||T|A|99|38.0|Non-synonymous|Line Propagating
785473|IGL00234|16|10422839|G->S|1.0|Probably damaging|MGI:1347073|Nubp1|nucleotide binding protein 1 [Source:MGI Symbol;Acc:MGI:1347073]|Heterozygous||G|A|95|34.0|Non-synonymous|Line Propagating
785474|IGL00234|9|70820437|Y->N|0.58|Possibly damaging|MGI:96216|Lipc|lipase, hepatic [Source:MGI Symbol;Acc:MGI:96216]|Heterozygous|Homozygotes for a targeted null mutation exhibit elevated plasma total cholesterol, phospholipids, and high density lipoprotein cholesterol.|A|T|92|37.0|Non-synonymous|Line Propagating
785475|IGL00234|16|16303321|L->P|0.49|Possibly damaging|MGI:1917370|Yars2|tyrosyl-tRNA synthetase 2 (mitochondrial) [Source:MGI Symbol;Acc:MGI:1917370]|Heterozygous||T|C|87|33.0|Non-synonymous|Line Propagating
785476|IGL00234|7|30066330|S->L|1.0|Probably damaging|MGI:1890753|Zfp82|zinc finger protein 82 [Source:MGI Symbol;Acc:MGI:1890753]|Heterozygous||G|A|86|39.5|Non-synonymous|Line Propagating
785477|IGL00234|2|168504890|S->R|1.0|Probably damaging|MGI:102463|Nfatc2|nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 [Source:MGI Symbol;Acc:MGI:102463]|Heterozygous|Mutations in this locus cause altered immune system function such as decreased cytokine production by mast cells, increased Th2 responses after infection with a parasite but decreased Th1 responses after myobacterial infection, retarded thymic involution and massive germinal center formation.|A|T|84|34.0|Non-synonymous|Line Propagating
785479|IGL00234|1|30811847|T->M|0.09|Benign|MGI:2446126|Phf3|PHD finger protein 3 [Source:MGI Symbol;Acc:MGI:2446126]|Heterozygous||G|A|67|38.0|Non-synonymous|Line Propagating
785480|IGL00234|7|65927820|C->Y|1.0|Probably damaging|MGI:102897|Pcsk6|proprotein convertase subtilisin/kexin type 6 [Source:MGI Symbol;Acc:MGI:102897]|Heterozygous|Homozygous mutation of this gene results in partial lethality by E15.5. Embryos develop situs ambiguus with left pulmonary isomerism or craniofacial malformations including cyclopia, or both.|G|A|67|36.0|Non-synonymous|Line Propagating
785481|IGL00234|5|141998740|N->K|0.99|Probably damaging|MGI:2444413|Sdk1|sidekick homolog 1 (chicken) [Source:MGI Symbol;Acc:MGI:2444413]|Heterozygous||C|A|61|39.0|Non-synonymous|Line Propagating
785482|IGL00234|11|35177806|S->I|0.66|Possibly damaging|MGI:1315202|Slit3|slit homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315202]|Heterozygous|Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion.|G|T|50|39.0|Non-synonymous|Line Propagating
785483|IGL00234|10|85146834|S->P|0.01|Benign|MGI:1270841|Cry1|cryptochrome 1 (photolyase-like) [Source:MGI Symbol;Acc:MGI:1270841]|Heterozygous|Homozygotes for targeted null mutations exhibit a one-hour shorter circadian period under constant darkness and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure.|A|G|43|37.0|Non-synonymous|Line Propagating
785484|IGL00234|11|102399987|Q->K|0.07|Benign|MGI:1858752|Rundc3a|RUN domain containing 3A [Source:MGI Symbol;Acc:MGI:1858752]|Heterozygous||C|A|39|32.0|Non-synonymous|Line Propagating
785486|IGL00234|1|133374536|C->Y|0.44|Possibly damaging|MGI:2443760|Etnk2|ethanolamine kinase 2 [Source:MGI Symbol;Acc:MGI:2443760]|Heterozygous|Homozygous mutation of this gene results in maternal-specific intrauterine growth retardation resulting in reduced litter size and perinatal lethality due to extensive placental thrombosis.|G|A|35|36.0|Non-synonymous|Line Propagating
785487|IGL00234|2|118436211|L->M|0.98|Probably damaging|MGI:1353427|Eif2ak4|eukaryotic translation initiation factor 2 alpha kinase 4 [Source:MGI Symbol;Acc:MGI:1353427]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit increased susceptibility to macrophage infection with Ad5-F16-GFP and MCMV.|C|A|35|34.0|Non-synonymous|Line Propagating
785488|IGL00234|5|35710957|S->A|0.98|Probably damaging|MGI:2678949|Sh3tc1|SH3 domain and tetratricopeptide repeats 1 [Source:MGI Symbol;Acc:MGI:2678949]|Heterozygous||A|C|34|37.0|Non-synonymous|Line Propagating
785489|IGL00234|8|24810791|E->Stop||N/A|MGI:104730|Adam5|a disintegrin and metallopeptidase domain 5 [Source:MGI Symbol;Acc:MGI:104730]|Heterozygous||C|A|31|38.0|Non-synonymous|Line Propagating
785490|IGL00234|4|9508672|Q->H|1.0|Probably damaging|MGI:1914186|Asph|aspartate-beta-hydroxylase [Source:MGI Symbol;Acc:MGI:1914186]|Heterozygous|Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.|C|A|26|37.0|Non-synonymous|Line Propagating
785491|IGL00234|4|49529027|N->K|0.41|Benign|MGI:2444707|Zfp189|zinc finger protein 189 [Source:MGI Symbol;Acc:MGI:2444707]|Heterozygous||C|A|26|39.5|Non-synonymous|Line Propagating
785492|IGL00234|5|5617295|Y->H||Benign|MGI:2443778|A330021e22rik|RIKEN cDNA A330021E22 gene [Source:MGI Symbol;Acc:MGI:2443778]|Heterozygous||A|G|25|38.0|Non-synonymous|Line Propagating
785494|IGL00234|10|25501836|T->A|0.77|Possibly damaging|MGI:103009|Epb4.1l2|erythrocyte protein band 4.1-like 2 [Source:MGI Symbol;Acc:MGI:103009]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.|A|G|23|38.0|Non-synonymous|Line Propagating
785495|IGL00234|13|12222181|G->C|0.97|Probably damaging|MGI:894292|Mtr|5-methyltetrahydrofolate-homocysteine methyltransferase [Source:MGI Symbol;Acc:MGI:894292]|Heterozygous|Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.|C|A|23|40.0|Non-synonymous|Line Propagating
785496|IGL00234|4|139779697|A->E|0.22|Benign|MGI:97491|Pax7|paired box gene 7 [Source:MGI Symbol;Acc:MGI:97491]|Heterozygous|Mice homozygous for a targeted null mutation exhibit craniofacial malformations involving the nose and maxilla, and die within three weeks after birth.|G|T|23|30.0|Non-synonymous|Line Propagating
785497|IGL00234|7|48872121|S->I|0.5|Possibly damaging|MGI:1922038|E2f8|E2F transcription factor 8 [Source:MGI Symbol;Acc:MGI:1922038]|Heterozygous|Mice homozygous for a knock-out allele develop normally through puberty and live to old age.|C|A|23|40.0|Non-synonymous|Line Propagating
785499|IGL00234|17|33781268|N->S|1.0|Probably damaging|MGI:1888999|Angptl4|angiopoietin-like 4 [Source:MGI Symbol;Acc:MGI:1888999]|Heterozygous|Mice homozygous for disruptions in this gene display decreased levels of triglycerides and cholesterol and a lower increase in body fat after exposure to gut microbiota.|T|C|21|37.0|Non-synonymous|Line Propagating
785500|IGL00234|3|36050604|S->I|0.42|Benign|MGI:2681852|Ccdc144b|coiled-coil domain containing 144B [Source:MGI Symbol;Acc:MGI:2681852]|Heterozygous||C|A|20|37.0|Non-synonymous|Line Propagating
785501|IGL00234|9|108117445|H->N|0.64|Possibly damaging|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|G|T|20|30.0|Non-synonymous|Line Propagating
785502|IGL00234|X|119928882|P->H|0.82|Possibly damaging|MGI:2136401|Pabpc5|poly(A) binding protein, cytoplasmic 5 [Source:MGI Symbol;Acc:MGI:2136401]|Heterozygous||C|A|20|37.0|Non-synonymous|Line Propagating
785503|IGL00234|2|121248282|G->C|0.98|Probably damaging|MGI:1351320|Trp53bp1|transformation related protein 53 binding protein 1 [Source:MGI Symbol;Acc:MGI:1351320]|Heterozygous|Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.|C|A|19|39.0|Non-synonymous|Line Propagating
785504|IGL00234|5|117251045|S->Y||Benign|MGI:3041177|Taok3|TAO kinase 3 [Source:MGI Symbol;Acc:MGI:3041177]|Heterozygous||C|A|19|36.0|Non-synonymous|Line Propagating
785505|IGL00234|X|138209044|Q->H|0.83|Possibly damaging|MGI:1913106, MGI:1915194|Il1rapl2,tex13a|interleukin 1 receptor accessory protein-like 2 [Source:MGI Symbol;Acc:MGI:1913106],testis expressed 13A [Source:MGI Symbol;Acc:MGI:1915194]|Heterozygous||C|A|17|38.0|Non-synonymous|Line Propagating
785506|IGL00234|X|140763572|N->K|0.22|Benign|MGI:1344333|Mid2|midline 2 [Source:MGI Symbol;Acc:MGI:1344333]|Heterozygous||C|A|17|34.0|Non-synonymous|Line Propagating
785507|IGL00234|18|12525141|Q->K||Benign|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|C|A|16|37.5|Non-synonymous|Line Propagating
785508|IGL00234|19|34612005|D->Y|0.99|Probably damaging|MGI:3698419|I830012o16rik|RIKEN cDNA I830012O16 gene [Source:MGI Symbol;Acc:MGI:3698419]|Heterozygous||G|T|16|37.0|Non-synonymous|Line Propagating
785509|IGL00234|X|106197842|S->R|0.7|Possibly damaging|MGI:97555|Pgk1|phosphoglycerate kinase 1 [Source:MGI Symbol;Acc:MGI:97555]|Heterozygous||C|A|16|40.0|Non-synonymous|Line Propagating
785511|IGL00234|9|37416767|G->D||Unknown|MGI:1343102|Robo3|roundabout homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1343102]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.|C|T|15|34.0|Non-synonymous|Line Propagating
785512|IGL00234|11|34068473|T->K||Benign|MGI:1321402|Lcp2|lymphocyte cytosolic protein 2 [Source:MGI Symbol;Acc:MGI:1321402]|Heterozygous|T cell development is blocked and T cell receptor signaling impaired in homozygous point mutants. Double positive thymocyte and single positive T cell numbers are much reduced. Both positive and negative thymocyte selection is abnormal. Mice have high IgG and IgE levels and exhibit autoimmunity.|C|A|14|38.0|Non-synonymous|Line Propagating
785513|IGL00234|12|112605503|R->S||Unknown|MGI:1917685|Inf2|inverted formin, FH2 and WH2 domain containing [Source:MGI Symbol;Acc:MGI:1917685]|Heterozygous||G|T|14|37.5|Non-synonymous|Line Propagating
785514|IGL00234|3|93323004|S->Stop||N/A|MGI:3046938|Hrnr|hornerin [Source:MGI Symbol;Acc:MGI:3046938]|Heterozygous||C|A|14|39.0|Non-synonymous|Line Propagating
785515|IGL00234|12|27341864|A->D|0.23|Benign|MGI:98359|Sox11|SRY-box containing gene 11 [Source:MGI Symbol;Acc:MGI:98359]|Heterozygous|Homozygous null mice display neonatal lethality with impaired ossification and impaired development of the heart, lung, spleen, stomach, skeleton, and pancreas.|G|T|13|37.0|Non-synonymous|Line Propagating
785516|IGL00234|6|52733261|T->K||Benign|MGI:1289308|Tax1bp1|Tax1 (human T-cell leukemia virus type I) binding protein 1 [Source:MGI Symbol;Acc:MGI:1289308]|Heterozygous|Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects.|C|A|13|39.0|Non-synonymous|Line Propagating
785517|IGL00234|8|106099092|L->I|0.99|Probably damaging|MGI:103296|Nfatc3|nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 [Source:MGI Symbol;Acc:MGI:103296]|Heterozygous|Mice homozygous for disruptions in this gene experience some embryonic lethality and reduced body size. Developmental defects also exist in the immune system , skeletal muscle, vasculature, heart, and sensory nerves.|C|A|13|38.0|Non-synonymous|Line Propagating
785518|IGL00234|X|134460626|E->Stop||N/A|MGI:1921719|Taf7l|TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:1921719]|Heterozygous|Mice homozygous for a null allele display reduced male fertility, oligozoospermia, teratozoospermia, athenozoospermia, abnormal seminiferous tubules, and reduced testes weight on congenic but not on mixed strain backgrounds.|C|A|13|34.0|Non-synonymous|Line Propagating
785519|IGL00234|11|29463734|S->R|1.0|Probably damaging|MGI:1925177|Ccdc88a|coiled coil domain containing 88A [Source:MGI Symbol;Acc:MGI:1925177]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25.|C|A|12|35.0|Non-synonymous|Line Propagating
785526|IGL00234|9|21036795|Disrupted splicing||N/A|MGI:109430|Icam5|intercellular adhesion molecule 5, telencephalin [Source:MGI Symbol;Acc:MGI:109430]|Heterozygous|Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning.|G|A|431|34.0|Splice|Line Propagating
785527|IGL00234|19|17168344|Disrupted splicing||N/A|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||T|A|77|36.0|Splice|Line Propagating
785528|IGL00234|13|58395297|Disrupted splicing||N/A|MGI:99894|Hnrnpk|heterogeneous nuclear ribonucleoprotein K [Source:MGI Symbol;Acc:MGI:99894]|Heterozygous||T|C|53|39.0|Splice|Line Propagating
785529|IGL00234|1|188150173|Disrupted splicing||N/A|MGI:1347056|Esrrg|estrogen-related receptor gamma [Source:MGI Symbol;Acc:MGI:1347056]|Heterozygous|Homozygous mutation of this gene results lethality by weaning age. Heterozygotes exhibit significantly increased overall startle amplitude.|C|A|33|39.0|Splice|Line Propagating
785530|IGL00234|15|94586357|Disrupted splicing||N/A|MGI:1100520|Twf1|twinfilin, actin-binding protein, homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1100520]|Heterozygous||C|A|14|37.0|Splice|Line Propagating
785531|IGL00234|9|107962827|Disrupted splicing||N/A|MGI:1096377|Traip|TRAF-interacting protein [Source:MGI Symbol;Acc:MGI:1096377]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality at prior to E8.5, embryonic growth retardation, decreased embryonic size, decreased cell proliferation and increased apoptosis.|A|T|14|33.0|Splice|Line Propagating
787918|IGL00264|7|140667941|I->N|0.78|Possibly damaging|MGI:3030373|Olfr539|olfactory receptor 539 [Source:MGI Symbol;Acc:MGI:3030373]|Heterozygous||T|A|128|38.0|Non-synonymous|Line Propagating
787920|IGL00264|19|13529850|Y->S|1.0|Probably damaging|MGI:3031314|Olfr1480|olfactory receptor 1480 [Source:MGI Symbol;Acc:MGI:3031314]|Heterozygous||A|C|88|37.5|Non-synonymous|Line Propagating
787921|IGL00264|18|12179219|V->A||Benign|MGI:1916528|3110002h16rik|RIKEN cDNA 3110002H16 gene [Source:MGI Symbol;Acc:MGI:1916528]|Heterozygous||T|C|80|35.0|Non-synonymous|Line Propagating
787923|IGL00264|3|27374873|L->Q|0.75|Possibly damaging|MGI:2441906|Ghsr|growth hormone secretagogue receptor [Source:MGI Symbol;Acc:MGI:2441906]|Heterozygous|Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.|T|A|65|36.0|Non-synonymous|Line Propagating
787924|IGL00264|6|89933664|Y->F|1.0|Probably damaging|MGI:1333762|Vmn1r45|vomeronasal 1 receptor 45 [Source:MGI Symbol;Acc:MGI:1333762]|Heterozygous||T|A|59|36.0|Non-synonymous|Line Propagating
787925|IGL00264|13|58337604|M->K||Benign|MGI:1922300|Kif27|kinesin family member 27 [Source:MGI Symbol;Acc:MGI:1922300]|Heterozygous||A|T|52|39.0|Non-synonymous|Line Propagating
787926|IGL00264|5|91074779|S->Y||Benign|MGI:107508|Ereg|epiregulin [Source:MGI Symbol;Acc:MGI:107508]|Heterozygous|Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium.|C|A|49|35.0|Non-synonymous|Line Propagating
787927|IGL00264|2|91911589|S->T||Benign|MGI:2443564|Ambra1|autophagy/beclin 1 regulator 1 [Source:MGI Symbol;Acc:MGI:2443564]|Heterozygous|Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis.|T|A|46|36.5|Non-synonymous|Line Propagating
787928|IGL00264|13|114992363|N->K||N/A|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|A|T|45|37.0|Non-synonymous|Line Propagating
787929|IGL00264|17|23359275|R->H||Benign|MGI:3647235|Vmn2r115|vomeronasal 2, receptor 115 [Source:MGI Symbol;Acc:MGI:3647235]|Heterozygous||G|A|45|39.0|Non-synonymous|Line Propagating
787930|IGL00264|18|37355473|H->L||Benign|MGI:2136742|Pcdhb8|protocadherin beta 8 [Source:MGI Symbol;Acc:MGI:2136742]|Heterozygous||A|T|44|38.0|Non-synonymous|Line Propagating
787931|IGL00264|11|103138455|E->G|1.0|Probably damaging|MGI:1918309|Hexim2|hexamthylene bis-acetamide inducible 2 [Source:MGI Symbol;Acc:MGI:1918309]|Heterozygous||A|G|42|35.0|Non-synonymous|Line Propagating
787932|IGL00264|18|13846502|Y->H|0.02|Benign|MGI:95459|Zfp521|zinc finger protein 521 [Source:MGI Symbol;Acc:MGI:95459]|Heterozygous|Mice homozygous for a conditional allele activated in chondrocytes exhibit postnatal growth retardation, dwarfism, premature bone mineralization, reduced chondrocyte proliferation, and increased chondrocyte apoptosis.|A|G|42|34.5|Non-synonymous|Line Propagating
787934|IGL00264|3|129873095|I->T|0.11|Benign|MGI:105937|Cfi|complement component factor i [Source:MGI Symbol;Acc:MGI:105937]|Heterozygous|Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritis type II. Plasma C3 circulates as C3b.|T|C|41|38.0|Non-synonymous|Line Propagating
787935|IGL00264|19|12999319|Y->C|0.99|Probably damaging|MGI:3031285|Olfr1451|olfactory receptor 1451 [Source:MGI Symbol;Acc:MGI:3031285]|Heterozygous||A|G|39|37.0|Non-synonymous|Line Propagating
787936|IGL00264|10|50714435|V->G|1.0|Probably damaging|MGI:1925237|Ascc3|activating signal cointegrator 1 complex subunit 3 [Source:MGI Symbol;Acc:MGI:1925237]|Heterozygous||T|G|38|37.0|Non-synonymous|Line Propagating
787937|IGL00264|6|36523391|F->Y|1.0|Probably damaging|MGI:88397|Chrm2|cholinergic receptor, muscarinic 2, cardiac [Source:MGI Symbol;Acc:MGI:88397]|Heterozygous|Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine.|T|A|37|37.0|Non-synonymous|Line Propagating
787939|IGL00264|9|37651041|N->K||Benign|MGI:1100877|Tbrg1|transforming growth factor beta regulated gene 1 [Source:MGI Symbol;Acc:MGI:1100877]|Heterozygous||G|T|31|37.0|Non-synonymous|Line Propagating
787940|IGL00264|10|25171240|D->N||N/A|MGI:1859150|Akap7|A kinase (PRKA) anchor protein 7 [Source:MGI Symbol;Acc:MGI:1859150]|Heterozygous||C|T|30|38.5|Non-synonymous|Line Propagating
787942|IGL00264|9|108463038|S->T|0.05|Benign|MGI:1919704|Ccdc71|coiled-coil domain containing 71 [Source:MGI Symbol;Acc:MGI:1919704]|Heterozygous||T|A|29|33.0|Non-synonymous|Line Propagating
787944|IGL00264|10|85960528|V->G|0.87|Possibly damaging|MGI:3026884|Bpil2|bactericidal/permeability-increasing protein-like 2 [Source:MGI Symbol;Acc:MGI:3026884]|Heterozygous||A|C|26|38.0|Non-synonymous|Line Propagating
787945|IGL00264|6|7680179|E->D|1.0|Probably damaging|MGI:1350929|Asns|asparagine synthetase [Source:MGI Symbol;Acc:MGI:1350929]|Heterozygous||T|A|26|39.5|Non-synonymous|Line Propagating
787946|IGL00264|12|10391134|G->W|0.8|Possibly damaging|MGI:1920402|Rdh14|retinol dehydrogenase 14 (all-trans and 9-cis) [Source:MGI Symbol;Acc:MGI:1920402]|Heterozygous||G|T|21|37.0|Non-synonymous|Line Propagating
787947|IGL00264|2|130395943|Y->C|0.99|Probably damaging|MGI:1934569|Cpxm1|carboxypeptidase X 1 (M14 family) [Source:MGI Symbol;Acc:MGI:1934569]|Heterozygous||T|C|21|35.0|Non-synonymous|Line Propagating
787948|IGL00264|X|95081631|D->G|0.34|Benign|MGI:2442233|Arhgef9|CDC42 guanine nucleotide exchange factor (GEF) 9 [Source:MGI Symbol;Acc:MGI:2442233]|Heterozygous|Male mice hemizygous for a null allele exhibit impaired spatial learning, increased anxiety-associated behaviors, and altered central nervous system synaptic transmission.|T|C|21|39.0|Non-synonymous|Line Propagating
787949|IGL00264|15|34428470|I->T|0.98|Probably damaging|MGI:109613|Matn2|matrilin 2 [Source:MGI Symbol;Acc:MGI:109613]|Heterozygous|Homozygous null mice are healthy and fertile with no obvious abnormalities.|T|C|19|39.0|Non-synonymous|Line Propagating
787950|IGL00264|18|36668739|S->R|0.04|Benign|MGI:1344414|Sra1|steroid receptor RNA activator 1 [Source:MGI Symbol;Acc:MGI:1344414]|Heterozygous||A|T|18|38.0|Non-synonymous|Line Propagating
787951|IGL00264|6|73195737|I->T||Benign|MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
787953|IGL00264|7|135707820|G->Stop||N/A|MGI:106035|Mki67|antigen identified by monoclonal antibody Ki 67 [Source:MGI Symbol;Acc:MGI:106035]|Heterozygous||C|A|16|33.5|Non-synonymous|Line Propagating
787954|IGL00264|1|125397229|I->L||Benign|MGI:1921367|Actr3|ARP3 actin-related protein 3 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1921367]|Heterozygous|Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis.|T|G|14|37.0|Non-synonymous|Line Propagating
787955|IGL00264|2|51627663|L->F|1.0|Probably damaging|MGI:2681300|Tas2r134|taste receptor, type 2, member 134 [Source:MGI Symbol;Acc:MGI:2681300]|Heterozygous||A|T|14|36.0|Non-synonymous|Line Propagating
787956|IGL00264|19|5365123|K->N||Benign|MGI:1346330|Banf1|barrier to autointegration factor 1 [Source:MGI Symbol;Acc:MGI:1346330]|Heterozygous||C|A|12|37.5|Non-synonymous|Line Propagating
787957|IGL00264|1|88004238|Disrupted splicing||N/A|MGI:2443184|Usp40|ubiquitin specific peptidase 40 [Source:MGI Symbol;Acc:MGI:2443184]|Heterozygous||A|T|23|37.0|Splice|Line Propagating
787958|IGL00264|3|125914636|Disrupted splicing||N/A|MGI:109522|Ugt8a|UDP galactosyltransferase 8A [Source:MGI Symbol;Acc:MGI:109522]|Heterozygous|Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath.|A|G|18|35.0|Splice|Line Propagating
787959|IGL00264|18|77871559|Disrupted splicing||N/A|MGI:1335088|Pstpip2|proline-serine-threonine phosphatase-interacting protein 2 [Source:MGI Symbol;Acc:MGI:1335088]|Heterozygous|Homozygous mutant animals develop osteomyelitis (bone inflammation). Tail kinks are observed starting at 6-8 weeks of age and chronic inflammation of the extremities and ears is subsequently seen. Extramedullary hematopoiesis in the spleen is observed.|T|C|16|38.0|Splice|Line Propagating
787960|IGL00264|17|78918348|Disrupted splicing||N/A|MGI:1915804|1110001a16rik|RIKEN cDNA 1110001A16 gene [Source:MGI Symbol;Acc:MGI:1915804]|Heterozygous||T|C|15|37.0|Splice|Line Propagating
790982|IGL00272|10|56388322|D->G|0.01|Benign|MGI:95713|Gja1|gap junction protein, alpha 1 [Source:MGI Symbol;Acc:MGI:95713]|Heterozygous|Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects.|A|G|252|35.0|Non-synonymous|Line Propagating
790983|IGL00272|8|48417060|V->I||N/A|MGI:1345183|Odz3|odd Oz/ten-m homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1345183]|Heterozygous|Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks.|C|T|158|36.0|Non-synonymous|Line Propagating
790984|IGL00272|14|57691569|T->A|0.01|Benign|MGI:1354386|Lats2|large tumor suppressor 2 [Source:MGI Symbol;Acc:MGI:1354386]|Heterozygous|Homozygous null mice display embryonic lethality with decreased cell proliferation, chromosomal instability, atrial hyperplasia, ventricular hypoplasia, delayed embryonic development, an irregular kinked neural tube, and hemorrhages.|T|C|148|35.0|Non-synonymous|Line Propagating
790985|IGL00272|2|87990438|D->V|0.99|Probably damaging|MGI:3030992|Olfr1158|olfactory receptor 1158 [Source:MGI Symbol;Acc:MGI:3030992]|Heterozygous||A|T|128|38.0|Non-synonymous|Line Propagating
790986|IGL00272|15|89285813|A->S|0.43|Benign|MGI:1918724|Ppp6r2|protein phosphatase 6, regulatory subunit 2 [Source:MGI Symbol;Acc:MGI:1918724]|Heterozygous||G|T|116|36.0|Non-synonymous|Line Propagating
790987|IGL00272|3|95321900|Y->H|1.0|Probably damaging|MGI:1924143|Lass2|LAG1 homolog, ceramide synthase 2 [Source:MGI Symbol;Acc:MGI:1924143]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal ceramide species and myelin sheath defects and develop hepatocellular carcinoma.|T|C|90|37.0|Non-synonymous|Line Propagating
790988|IGL00272|8|116973540|V->A|0.09|Benign|MGI:1916778|1700030j22rik|RIKEN cDNA 1700030J22 gene [Source:MGI Symbol;Acc:MGI:1916778]|Heterozygous||A|G|87|36.0|Non-synonymous|Line Propagating
790989|IGL00272|2|88006644|S->P|0.98|Probably damaging|MGI:3030994|Olfr1160|olfactory receptor 1160 [Source:MGI Symbol;Acc:MGI:3030994]|Heterozygous||A|G|75|40.0|Non-synonymous|Line Propagating
790990|IGL00272|6|125162507|V->M|0.12|Benign|MGI:95640|Gapdh|glyceraldehyde-3-phosphate dehydrogenase [Source:MGI Symbol;Acc:MGI:95640]|Heterozygous|Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal.|C|T|71|36.0|Non-synonymous|Line Propagating
790992|IGL00272|17|65986174|V->I||N/A|MGI:1914357|Ankrd12|ankyrin repeat domain 12 [Source:MGI Symbol;Acc:MGI:1914357]|Heterozygous||C|T|65|39.0|Non-synonymous|Line Propagating
790993|IGL00272|17|88985271|I->F||Benign|MGI:95583|Fshr|follicle stimulating hormone receptor [Source:MGI Symbol;Acc:MGI:95583]|Heterozygous|Homozygous null mutant females are sterile with small ovaries, blocked follicular development, atrophic uterus and imperforate vagina. Mutant males are fertile despite reduction in testis weight, oligozoospermia and reduced testosterone levels.|T|A|64|38.0|Non-synonymous|Line Propagating
790995|IGL00272|11|50093796|I->V|0.51|Possibly damaging|MGI:1891717|Rnf130|ring finger protein 130 [Source:MGI Symbol;Acc:MGI:1891717]|Heterozygous||A|G|62|39.0|Non-synonymous|Line Propagating
790997|IGL00272|18|12491548|C->Y|1.0|Probably damaging|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|G|A|60|38.0|Non-synonymous|Line Propagating
790998|IGL00272|10|81121073|M->K|1.0|Probably damaging|MGI:1346867|Map2k2|mitogen-activated protein kinase kinase 2 [Source:MGI Symbol;Acc:MGI:1346867]|Heterozygous|Homozygotes for a targeted null mutation are viable, fertile, and apparently normal.|T|A|57|36.0|Non-synonymous|Line Propagating
791000|IGL00272|5|118068097|H->Q||Benign|MGI:1923041|Fbxw8|F-box and WD-40 domain protein 8 [Source:MGI Symbol;Acc:MGI:1923041]|Heterozygous|Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology.|A|T|55|38.0|Non-synonymous|Line Propagating
791001|IGL00272|11|21277909|Y->N|0.08|Benign|MGI:2178798|Vps54|vacuolar protein sorting 54 (yeast) [Source:MGI Symbol;Acc:MGI:2178798]|Heterozygous|Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.|T|A|52|38.0|Non-synonymous|Line Propagating
791002|IGL00272|7|101321966|Y->F|0.98|Probably damaging|MGI:1860093|Stard10|START domain containing 10 [Source:MGI Symbol;Acc:MGI:1860093]|Heterozygous||A|T|49|35.0|Non-synonymous|Line Propagating
791003|IGL00272|4|112624212|T->A|1.0|Probably damaging|MGI:3649629|Skint2|selection and upkeep of intraepithelial T cells 2 [Source:MGI Symbol;Acc:MGI:3649629]|Heterozygous||A|G|48|38.0|Non-synonymous|Line Propagating
791005|IGL00272|19|56317832|C->Y|1.0|Probably damaging|MGI:1196378|Habp2|hyaluronic acid binding protein 2 [Source:MGI Symbol;Acc:MGI:1196378]|Heterozygous||G|A|43|37.0|Non-synonymous|Line Propagating
791007|IGL00272|13|80890572|S->P|0.99|Probably damaging|MGI:2145242|Arrdc3|arrestin domain containing 3 [Source:MGI Symbol;Acc:MGI:2145242]|Heterozygous||T|C|40|38.0|Non-synonymous|Line Propagating
791008|IGL00272|9|119816603|N->S|1.0|Probably damaging|MGI:1345149|Scn11a|sodium channel, voltage-gated, type XI, alpha [Source:MGI Symbol;Acc:MGI:1345149]|Heterozygous|Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal.|T|C|38|38.5|Non-synonymous|Line Propagating
791009|IGL00272|7|118198271|F->L|0.44|Possibly damaging|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||A|G|37|38.0|Non-synonymous|Line Propagating
791010|IGL00272|1|58402942|V->A|0.67|Possibly damaging|MGI:1914132|Bzw1|basic leucine zipper and W2 domains 1 [Source:MGI Symbol;Acc:MGI:1914132]|Heterozygous||T|C|36|37.0|Non-synonymous|Line Propagating
791011|IGL00272|11|87535643|S->N|0.99|Probably damaging|MGI:1933227|Tex14|testis expressed gene 14 [Source:MGI Symbol;Acc:MGI:1933227]|Heterozygous|Males homozygous for a targeted allele are infertile due to spermatogenic failure.|G|A|35|36.0|Non-synonymous|Line Propagating
791013|IGL00272|13|54995820|I->V|0.65|Possibly damaging|MGI:894682|Unc5a|unc-5 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:894682]|Heterozygous|Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord.|A|G|29|36.0|Non-synonymous|Line Propagating
791014|IGL00272|X|140105962|I->V||Benign|MGI:3607720|E230019m04rik|RIKEN cDNA E230019M04 gene [Source:MGI Symbol;Acc:MGI:3607720]|Heterozygous||A|G|29|40.0|Non-synonymous|Line Propagating
791015|IGL00272|12|73968374|K->E|0.24|Benign|MGI:1922877|Snapc1|small nuclear RNA activating complex, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1922877]|Heterozygous||A|G|22|36.5|Non-synonymous|Line Propagating
791016|IGL00272|3|129711449|M->I||Benign|MGI:95290|Egf|epidermal growth factor [Source:MGI Symbol;Acc:MGI:95290]|Heterozygous|Null mutants have normal phenotype. Females triply null, for this locus and the amphiregulin and transforming growth factor alpha genes, are unable to nurse due to impaired mammary gland development and show mild integument and digestive system anomalies.|C|T|21|35.0|Non-synonymous|Line Propagating
803637|IGL00474|13|64120660|L->M|0.99|Probably damaging|MGI:1917734|Slc35d2|solute carrier family 35, member D2 [Source:MGI Symbol;Acc:MGI:1917734]|Heterozygous||A|T|114|39.0|Non-synonymous|Line Propagating
803638|IGL00474|1|46832708|I->N|1.0|Probably damaging|MGI:1914515|Slc39a10|solute carrier family 39 (zinc transporter), member 10 [Source:MGI Symbol;Acc:MGI:1914515]|Heterozygous||A|T|75|38.0|Non-synonymous|Line Propagating
803641|IGL00474|11|68784971|D->G|1.0|Probably damaging|MGI:1930780|Myh10|myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, cardiac abnormalities, and hydroencephaly.|A|G|61|37.0|Non-synonymous|Line Propagating
803642|IGL00474|17|42675759|I->M|0.31|Benign|MGI:1925499|Gpr115|G protein-coupled receptor 115 [Source:MGI Symbol;Acc:MGI:1925499]|Heterozygous||T|C|54|40.0|Non-synonymous|Line Propagating
803644|IGL00474|13|13643536|I->V|0.62|Possibly damaging|MGI:107448|Lyst|lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]|Heterozygous|Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells.|A|G|44|39.0|Non-synonymous|Line Propagating
803645|IGL00474|11|72198636|S->T|0.52|Possibly damaging|MGI:1921727|4933427d14rik|RIKEN cDNA 4933427D14 gene [Source:MGI Symbol;Acc:MGI:1921727]|Heterozygous||A|T|43|36.0|Non-synonymous|Line Propagating
803646|IGL00474|13|28149968|R->S|0.81|Possibly damaging|MGI:106332|Prl5a1|prolactin family 5, subfamily a, member 1 [Source:MGI Symbol;Acc:MGI:106332]|Heterozygous||A|T|42|39.0|Non-synonymous|Line Propagating
803647|IGL00474|2|91712626|V->G|1.0|Probably damaging|MGI:2443194|Harbi1|harbinger transposase derived 1 [Source:MGI Symbol;Acc:MGI:2443194]|Heterozygous||T|G|42|30.5|Non-synonymous|Line Propagating
803649|IGL00474|18|37302195|S->P|0.42|Benign|MGI:2136737|Pcdhb3|protocadherin beta 3 [Source:MGI Symbol;Acc:MGI:2136737]|Heterozygous||T|C|34|37.0|Non-synonymous|Line Propagating
803650|IGL00474|16|16767025|F->L||Benign|MGI:1354388|Spag6|sperm associated antigen 6 [Source:MGI Symbol;Acc:MGI:1354388]|Heterozygous|Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility.|A|G|32|36.0|Non-synonymous|Line Propagating
803651|IGL00474|11|31058848|D->N|0.98|Probably damaging|MGI:1929749|Asb3|ankyrin repeat and SOCS box-containing 3 [Source:MGI Symbol;Acc:MGI:1929749]|Heterozygous||G|A|30|39.5|Non-synonymous|Line Propagating
803653|IGL00474|9|45255939|F->S|1.0|Probably damaging|MGI:96538|Il10ra|interleukin 10 receptor, alpha [Source:MGI Symbol;Acc:MGI:96538]|Heterozygous|Mice homozygous for an ENU-generated null allele suffer from a severe inflammatory bowel syndrome. Mice heterozygote for an NZW variant allele have high sera levels of anti-chromatin antibodies. Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis.|A|G|30|37.5|Non-synonymous|Line Propagating
803655|IGL00474|3|114066533|M->L||Unknown|MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|A|C|25|39.0|Non-synonymous|Line Propagating
803656|IGL00474|6|58854996|G->D|1.0|Probably damaging|MGI:1921248|Herc3|hect domain and RLD 3 [Source:MGI Symbol;Acc:MGI:1921248]|Heterozygous||G|A|23|35.0|Non-synonymous|Line Propagating
803658|IGL00474|7|133909881|K->R||N/A|MGI:105378|Adam12|a disintegrin and metallopeptidase domain 12 (meltrin alpha) [Source:MGI Symbol;Acc:MGI:105378]|Heterozygous|Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.|T|C|21|40.0|Non-synonymous|Line Propagating
803659|IGL00474|8|61684867|N->S||Unknown|MGI:1919583|Palld|palladin, cytoskeletal associated protein [Source:MGI Symbol;Acc:MGI:1919583]|Heterozygous|All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.|T|C|20|38.0|Non-synonymous|Line Propagating
803660|IGL00474|10|86804883|D->G|1.0|Probably damaging|MGI:3513266|Nt5dc3|5'-nucleotidase domain containing 3 [Source:MGI Symbol;Acc:MGI:3513266]|Heterozygous||A|G|19|36.0|Non-synonymous|Line Propagating
803662|IGL00474|12|69304601|F->L|0.29|Benign|MGI:1916804|Klhdc2|kelch domain containing 2 [Source:MGI Symbol;Acc:MGI:1916804]|Heterozygous||T|C|16|36.0|Non-synonymous|Line Propagating
803663|IGL00474|2|130688138|M->K|0.04|Benign|MGI:2138987|Slc4a11|solute carrier family 4, sodium bicarbonate transporter-like, member 11 [Source:MGI Symbol;Acc:MGI:2138987]|Heterozygous|Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urine hypoosmolarity and impaired hearing.|A|T|16|39.0|Non-synonymous|Line Propagating
803664|IGL00474|7|21053010|I->F||Benign|MGI:3647340|Vmn1r120|vomeronasal 1 receptor 120 [Source:MGI Symbol;Acc:MGI:3647340]|Heterozygous||T|A|16|38.0|Non-synonymous|Line Propagating
803665|IGL00474|1|170212366|E->G|0.88|Possibly damaging|MGI:1341908|Uhmk1|U2AF homology motif (UHM) kinase 1 [Source:MGI Symbol;Acc:MGI:1341908]|Heterozygous|Mice with disruptions in this gene show accelerated development of neointima after arterial injury.|T|C|15|39.0|Non-synonymous|Line Propagating
803666|IGL00474|2|59799612|D->E|1.0|Probably damaging|MGI:1914110|Tanc1|tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [Source:MGI Symbol;Acc:MGI:1914110]|Heterozygous|Mice homozygous for a gene trap vector exhibit decreased spine density in the CA3 region and impaired spatial memory.|C|A|15|34.0|Non-synonymous|Line Propagating
803667|IGL00474|6|94611404|T->K|0.6|Possibly damaging|MGI:107935|Lrig1|leucine-rich repeats and immunoglobulin-like domains 1 [Source:MGI Symbol;Acc:MGI:107935]|Heterozygous|Homozygous null mice developed psoriasiform epidermal hyperplasia.|G|T|14|35.0|Non-synonymous|Line Propagating
803668|IGL00474|8|14895064|L->R|0.94|Possibly damaging|MGI:1349447|Cln8|ceroid-lipofuscinosis, neuronal 8 [Source:MGI Symbol;Acc:MGI:1349447]|Heterozygous|Homozygous mutants exhibit late-onset progressive motor neuron degeneration and retinal photoreceptor degeneration. Mutants accumulate proteolipid in neuronal cytoplasm, have hindlimb weakness and ataxia, and die at 9-14 months of age.|T|G|14|37.0|Non-synonymous|Line Propagating
803669|IGL00474|8|128502722|S->T|1.0|Probably damaging|MGI:106206|Nrp1|neuropilin 1 [Source:MGI Symbol;Acc:MGI:106206]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality, abnormal vascular development, and abnormal trigeminal and spinal nerve morphology.|T|A|14|38.0|Non-synonymous|Line Propagating
803670|IGL00474|18|32001354|K->Q|0.28|Benign|MGI:107709|Myo7b|myosin VIIB [Source:MGI Symbol;Acc:MGI:107709]|Heterozygous||T|G|13|37.0|Non-synonymous|Line Propagating
803671|IGL00474|9|118807235|N->Y|1.0|Probably damaging|MGI:104756|Itga9|integrin alpha 9 [Source:MGI Symbol;Acc:MGI:104756]|Heterozygous|Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall.|A|T|13|35.0|Non-synonymous|Line Propagating
803672|IGL00474|9|119977069|D->E||Benign|MGI:2387989|Csrnp1|cysteine-serine-rich nuclear protein 1 [Source:MGI Symbol;Acc:MGI:2387989]|Heterozygous|Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects.|A|T|13|39.0|Non-synonymous|Line Propagating
803673|IGL00474|2|122283575|M->L||Benign|MGI:3036280|Duox2|dual oxidase 2 [Source:MGI Symbol;Acc:MGI:3036280]|Heterozygous||T|A|12|34.0|Non-synonymous|Line Propagating
803674|IGL00474|7|126450294|C->Stop||N/A|MGI:105058|Atp2a1|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Source:MGI Symbol;Acc:MGI:105058]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology.|A|T|11|36.0|Non-synonymous|Line Propagating
803676|IGL00474|18|7926066|Disrupted splicing||N/A|MGI:2387357|Wac|WW domain containing adaptor with coiled-coil [Source:MGI Symbol;Acc:MGI:2387357]|Heterozygous||T|C|53|35.0|Splice|Line Propagating
803677|IGL00474|2|32687407|Disrupted splicing||N/A|MGI:95576|Fpgs|folylpolyglutamyl synthetase [Source:MGI Symbol;Acc:MGI:95576]|Heterozygous||T|A|18|36.0|Splice|Line Propagating
820675|IGL00436|18|32208657|S->T|0.99|Probably damaging|MGI:1346873|Map3k2|mitogen-activated protein kinase kinase kinase 2 [Source:MGI Symbol;Acc:MGI:1346873]|Heterozygous|Mice homozygous for disruptions in this gene are grossly normal and fertile.|T|A|105|36.0|Non-synonymous|Line Propagating
820676|IGL00436|2|118693912|Y->H|0.9|Possibly damaging|MGI:2679420|Pak6|p21 protein (Cdc42/Rac)-activated kinase 6 [Source:MGI Symbol;Acc:MGI:2679420]|Heterozygous||T|C|87|35.0|Non-synonymous|Line Propagating
820677|IGL00436|1|139510587|E->D|0.01|Benign|MGI:88379|F13b|coagulation factor XIII, beta subunit [Source:MGI Symbol;Acc:MGI:88379]|Heterozygous||A|T|86|37.0|Non-synonymous|Line Propagating
820679|IGL00436|7|104225673|I->S|1.0|Probably damaging|MGI:2137352|Trim6|tripartite motif-containing 6 [Source:MGI Symbol;Acc:MGI:2137352]|Heterozygous||T|G|76|38.0|Non-synonymous|Line Propagating
820680|IGL00436|5|25281261|N->D|1.0|Probably damaging|MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|T|C|74|36.0|Non-synonymous|Line Propagating
820681|IGL00436|6|3965407|V->A|0.57|Possibly damaging|MGI:108543|Tfpi2|tissue factor pathway inhibitor 2 [Source:MGI Symbol;Acc:MGI:108543]|Heterozygous||A|G|74|36.0|Non-synonymous|Line Propagating
820682|IGL00436|1|150333255|V->A|0.74|Possibly damaging|MGI:98090|Pdc|phosducin [Source:MGI Symbol;Acc:MGI:98090]|Heterozygous|Homozygous null mice display normal retinal morphology and rod function with reduced transducin (Gnat1) translocation. Mice homozygous for a different knock-out allele exhibit large pupils, increased blood pressure, age-related vascular smooth muscle hypertrophy, and stress-induced hypertension.|T|C|70|37.0|Non-synonymous|Line Propagating
820684|IGL00436|7|107182790|R->K||Benign|MGI:1924108|Nlrp14|NLR family, pyrin domain containing 14 [Source:MGI Symbol;Acc:MGI:1924108]|Heterozygous||G|A|62|37.0|Non-synonymous|Line Propagating
820685|IGL00436|15|76454528|T->A|0.22|Benign|MGI:1334460|Bop1|block of proliferation 1 [Source:MGI Symbol;Acc:MGI:1334460]|Heterozygous||T|C|59|34.0|Non-synonymous|Line Propagating
820686|IGL00436|8|105376630|I->V||N/A|MGI:2142544|Plekhg4|pleckstrin homology domain containing, family G (with RhoGef domain) member 4 [Source:MGI Symbol;Acc:MGI:2142544]|Heterozygous||A|G|57|37.0|Non-synonymous|Line Propagating
820687|IGL00436|11|54679265|S->P||Benign|MGI:2384761|Rapgef6|Rap guanine nucleotide exchange factor (GEF) 6 [Source:MGI Symbol;Acc:MGI:2384761]|Heterozygous|Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.|T|C|54|37.5|Non-synonymous|Line Propagating
820688|IGL00436|3|37310342|D->G|0.92|Possibly damaging|MGI:2677454|Cetn4|centrin 4 [Source:MGI Symbol;Acc:MGI:2677454]|Heterozygous||T|C|49|38.0|Non-synonymous|Line Propagating
820689|IGL00436|11|73120321|M->K|0.27|Benign|MGI:1298377|Itgae|integrin alpha E, epithelial-associated [Source:MGI Symbol;Acc:MGI:1298377]|Heterozygous|Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria.|T|A|48|35.0|Non-synonymous|Line Propagating
820690|IGL00436|10|24908775|C->F||Benign|MGI:1917458|Med23|mediator complex subunit 23 [Source:MGI Symbol;Acc:MGI:1917458]|Heterozygous||G|T|39|35.0|Non-synonymous|Line Propagating
820691|IGL00436|12|118036459|T->K|0.1|Benign|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|G|T|35|31.0|Non-synonymous|Line Propagating
820692|IGL00436|18|32248345|S->P|0.94|Possibly damaging|MGI:95414|Ercc3|excision repair cross-complementing rodent repair deficiency, complementation group 3 [Source:MGI Symbol;Acc:MGI:95414]|Heterozygous|Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation.|T|C|31|35.0|Non-synonymous|Line Propagating
820693|IGL00436|9|96944593|Y->F|0.96|Probably damaging|MGI:2183445|Spsb4|splA/ryanodine receptor domain and SOCS box containing 4 [Source:MGI Symbol;Acc:MGI:2183445]|Heterozygous||T|A|29|34.0|Non-synonymous|Line Propagating
820694|IGL00436|11|74990156|T->N|0.87|Possibly damaging|MGI:2144117|Smg6|Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) [Source:MGI Symbol;Acc:MGI:2144117]|Heterozygous||C|A|26|36.5|Non-synonymous|Line Propagating
820695|IGL00436|2|177945698|K->E|1.0|Probably damaging|MGI:3709298|Gm14326|predicted gene 14326 [Source:MGI Symbol;Acc:MGI:3709298]|Heterozygous||T|C|26|36.0|Non-synonymous|Line Propagating
820696|IGL00436|11|87240790|D->G|1.0|Probably damaging|MGI:2444096|Ppm1e|protein phosphatase 1E (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:2444096]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
820697|IGL00436|1|74612703|L->P||Benign|MGI:1920831|Stk36|serine/threonine kinase 36 (fused homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1920831]|Heterozygous|Homozygotes for one knock-out allele become runty and emaciated and die before 3 wks of age. Homozygotes for another knock-out allele show a similar growth arrest and mortality in addition to hydrocephalus, a domed head, ataxia, rhinitis, immature lungs and kidneys, and thymus and spleen atrophy.|T|C|20|35.5|Non-synonymous|Line Propagating
820698|IGL00436|8|93108425|Disrupted splicing||N/A|MGI:95420|Ces1c|carboxylesterase 1C [Source:MGI Symbol;Acc:MGI:95420]|Heterozygous|Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin.|A|T|114|38.0|Splice|Line Propagating
820699|IGL00436|8|22937984|Disrupted splicing||N/A|MGI:2442415|Myst3|MYST histone acetyltransferase (monocytic leukemia) 3 [Source:MGI Symbol;Acc:MGI:2442415]|Heterozygous|Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility.|T|C|60|39.0|Splice|Line Propagating
820700|IGL00436|17|55993943|Disrupted splicing||N/A|MGI:1934858|Fsd1|fibronectin type 3 and SPRY domain-containing protein [Source:MGI Symbol;Acc:MGI:1934858]|Heterozygous||T|C|39|34.0|Splice|Line Propagating
820701|IGL00436|6|142797837|Disrupted splicing||N/A|MGI:2685612|Gm766|predicted gene 766 [Source:MGI Symbol;Acc:MGI:2685612]|Heterozygous||T|G|38|35.5|Splice|Line Propagating
820702|IGL00436|9|122896132|Disrupted splicing||N/A|MGI:3040678|Zfp167|zinc finger protein 167 [Source:MGI Symbol;Acc:MGI:3040678]|Heterozygous||T|A|37|37.0|Splice|Line Propagating
831919|IGL00494|10|24038140|I->T||Benign|MGI:3527445|Taar7e|trace amine-associated receptor 7E [Source:MGI Symbol;Acc:MGI:3527445]|Heterozygous||T|C|37|39.0|Non-synonymous|Line Propagating
831920|IGL00494|7|102087547|L->Q|1.0|Probably damaging|MGI:109527|Trpc2|transient receptor potential cation channel, subfamily C, member 2 [Source:MGI Symbol;Acc:MGI:109527]|Heterozygous|Homozygous null mice exhibit altered sexual and social behavior, including intermale mounting and a lack of aggressive behavior in the presence of invading males. Homozygotes for another allele show increased triglyceride levels in both males and females and increased cholesterol in males.|T|A|32|40.0|Non-synonymous|Line Propagating
831921|IGL00494|1|51477528|D->E|1.0|Probably damaging|MGI:1923258|Obfc2a|oligonucleotide/oligosaccharide-binding fold containing 2A [Source:MGI Symbol;Acc:MGI:1923258]|Heterozygous||A|T|30|40.0|Non-synonymous|Line Propagating
831922|IGL00494|12|55747185|D->A|1.0|Probably damaging|MGI:1931050|Ralgapa1|Ral GTPase activating protein, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:1931050]|Heterozygous||T|G|28|39.5|Non-synonymous|Line Propagating
831924|IGL00494|10|118164441|H->N|1.0|Probably damaging|MGI:96951|Mdm1|transformed mouse 3T3 cell double minute 1 [Source:MGI Symbol;Acc:MGI:96951]|Heterozygous|Mice homozygous for a nonsense point mutation exhibit retinal degeneration, abnormal eye electrophysiology.|C|A|24|39.5|Non-synonymous|Line Propagating
831925|IGL00494|16|75757992|V->A|0.93|Possibly damaging|MGI:1309463|Hspa13|heat shock protein 70 family, member 13 [Source:MGI Symbol;Acc:MGI:1309463]|Heterozygous||A|G|22|35.0|Non-synonymous|Line Propagating
831926|IGL00494|14|30096950|M->K|0.21|Benign|MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|A|T|21|39.0|Non-synonymous|Line Propagating
831927|IGL00494|6|135736331|M->L|0.13|Benign|MGI:95821|Grin2b|glutamate receptor, ionotropic, NMDA2B (epsilon 2) [Source:MGI Symbol;Acc:MGI:95821]|Heterozygous|Homozygotes for targeted null mutations exhibit impairments in suckling, in hippocampal long term depression, and in pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth.|T|G|20|41.0|Non-synonymous|Line Propagating
831928|IGL00494|11|87555484|R->S|1.0|Probably damaging|MGI:1933227|Tex14|testis expressed gene 14 [Source:MGI Symbol;Acc:MGI:1933227]|Heterozygous|Males homozygous for a targeted allele are infertile due to spermatogenic failure.|G|T|19|37.0|Non-synonymous|Line Propagating
831929|IGL00494|14|64028725|C->S||Benign|MGI:2384303|Rp1l1|retinitis pigmentosa 1 homolog (human)-like 1 [Source:MGI Symbol;Acc:MGI:2384303]|Heterozygous|Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration.|T|A|18|38.5|Non-synonymous|Line Propagating
831932|IGL00494|6|121644149|T->A|0.73|Possibly damaging|MGI:2449119|A2m|alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
831933|IGL00494|5|112463003|N->K|1.0|Probably damaging|MGI:1935121|Sez6l|seizure related 6 homolog like [Source:MGI Symbol;Acc:MGI:1935121]|Heterozygous|Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.|A|T|16|37.0|Non-synonymous|Line Propagating
831934|IGL00494|7|28460017|Y->H|1.0|Probably damaging|MGI:2136810|Lrfn1|leucine rich repeat and fibronectin type III domain containing 1 [Source:MGI Symbol;Acc:MGI:2136810]|Heterozygous||T|C|15|35.0|Non-synonymous|Line Propagating
831935|IGL00494|8|125944673|S->N|0.72|Possibly damaging|MGI:2385307|Bc021891|cDNA sequence BC021891 [Source:MGI Symbol;Acc:MGI:2385307]|Heterozygous||G|A|13|39.0|Non-synonymous|Line Propagating
831936|IGL00494|1|34588527|T->A|0.76|Possibly damaging|MGI:3026939|Fam123c|family with sequence similarity 123, member C [Source:MGI Symbol;Acc:MGI:3026939]|Heterozygous||A|G|12|40.0|Non-synonymous|Line Propagating
831937|IGL00494|1|86386362|E->G||Benign|MGI:1341898|Nmur1|neuromedin U receptor 1 [Source:MGI Symbol;Acc:MGI:1341898]|Heterozygous|Homozygous null mice are healthy and viable.|T|C|12|35.0|Non-synonymous|Line Propagating
831938|IGL00494|8|119772595|K->E||Benign|MGI:1921597|4632415k11rik|RIKEN cDNA 4632415K11 gene [Source:MGI Symbol;Acc:MGI:1921597]|Heterozygous||T|C|12|41.0|Non-synonymous|Line Propagating
831939|IGL00494|13|89605471|V->A|1.0|Probably damaging|MGI:1337006|Hapln1|hyaluronan and proteoglycan link protein 1 [Source:MGI Symbol;Acc:MGI:1337006]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects in cartilage development and delayed bone formation with short limbs and craniofacial anomalies. Mutants usually die as neonates due to respiratory failure, but some survive and develop dwarfism.|T|C|11|39.0|Non-synonymous|Line Propagating
831946|IGL00494|1|53206556|Disrupted splicing||N/A|MGI:1202302|Pms1|postmeiotic segregation increased 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1202302]|Heterozygous|Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions.|A|G|21|39.0|Splice|Line Propagating
831947|IGL00494|9|61408757|Disrupted splicing||N/A|MGI:104634|Tle3|transducin-like enhancer of split 3, homolog of Drosophila E(spl) [Source:MGI Symbol;Acc:MGI:104634]|Heterozygous|Mice homzoygous for a gene trap allele exhibit embryonic lethality.|T|A|21|37.0|Splice|Line Propagating
833750|IGL00497|4|88691182|Y->H|0.06|Benign|MGI:1097683|Ifnab|interferon alpha B [Source:MGI Symbol;Acc:MGI:1097683]|Heterozygous||A|G|53|39.0|Non-synonymous|Line Propagating
833751|IGL00497|12|51427869|D->G||Benign|MGI:1924233|Scfd1|Sec1 family domain containing 1 [Source:MGI Symbol;Acc:MGI:1924233]|Heterozygous||A|G|48|39.0|Non-synonymous|Line Propagating
833752|IGL00497|14|51888835|K->N|1.0|Probably damaging|MGI:1098577|Mettl17|methyltransferase like 17 [Source:MGI Symbol;Acc:MGI:1098577]|Heterozygous||A|T|46|36.0|Non-synonymous|Line Propagating
833753|IGL00497|11|67342488|Y->C|0.99|Probably damaging|MGI:1339967|Myh13|myosin, heavy polypeptide 13, skeletal muscle [Source:MGI Symbol;Acc:MGI:1339967]|Heterozygous||A|G|45|35.0|Non-synonymous|Line Propagating
833754|IGL00497|9|53566800|N->D|1.0|Probably damaging|MGI:107605|Npat|nuclear protein in the AT region [Source:MGI Symbol;Acc:MGI:107605]|Heterozygous||A|G|44|39.5|Non-synonymous|Line Propagating
833755|IGL00497|12|69174582|H->R|0.04|Benign|MGI:1916956|Lrr1|leucine rich repeat protein 1 [Source:MGI Symbol;Acc:MGI:1916956]|Heterozygous||A|G|38|39.5|Non-synonymous|Line Propagating
833758|IGL00497|14|73264598|R->H|0.91|Possibly damaging|MGI:97874|Rb1|retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.|C|T|36|37.0|Non-synonymous|Line Propagating
833759|IGL00497|15|50661307|M->L|0.38|Benign|MGI:1927616|Trps1|trichorhinophalangeal syndrome I (human) [Source:MGI Symbol;Acc:MGI:1927616]|Heterozygous||T|A|35|36.0|Non-synonymous|Line Propagating
833762|IGL00497|11|102770147|E->G|1.0|Probably damaging|MGI:1098667|Adam11|a disintegrin and metallopeptidase domain 11 [Source:MGI Symbol;Acc:MGI:1098667]|Heterozygous|Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks.|A|G|33|36.0|Non-synonymous|Line Propagating
833763|IGL00497|6|73195761|V->G|1.0|Probably damaging|MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|C|33|38.0|Non-synonymous|Line Propagating
833767|IGL00497|11|78272933|N->D|0.29|Benign|MGI:1919753|2610507b11rik|RIKEN cDNA 2610507B11 gene [Source:MGI Symbol;Acc:MGI:1919753]|Heterozygous||A|G|30|37.0|Non-synonymous|Line Propagating
833768|IGL00497|2|157216914|F->S|1.0|Probably damaging|MGI:3603828|4922505g16rik|RIKEN cDNA 4922505G16 gene [Source:MGI Symbol;Acc:MGI:3603828]|Heterozygous||A|G|29|39.0|Non-synonymous|Line Propagating
833769|IGL00497|10|123026299|L->S|1.0|Probably damaging|MGI:1914324|Mon2|MON2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1914324]|Heterozygous||A|G|28|40.0|Non-synonymous|Line Propagating
833770|IGL00497|6|147606987|Q->K|0.19|Benign|MGI:1914265|Ccdc91|coiled-coil domain containing 91 [Source:MGI Symbol;Acc:MGI:1914265]|Heterozygous||C|A|28|35.0|Non-synonymous|Line Propagating
833772|IGL00497|11|120010186|R->Q||Benign|MGI:1197518|Aatk|apoptosis-associated tyrosine kinase [Source:MGI Symbol;Acc:MGI:1197518]|Heterozygous||C|T|23|37.0|Non-synonymous|Line Propagating
833773|IGL00497|15|6847066|S->G|0.27|Benign|MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|T|C|23|39.0|Non-synonymous|Line Propagating
833774|IGL00497|6|113474171|V->A|0.74|Possibly damaging|MGI:2159336|Il17rc|interleukin 17 receptor C [Source:MGI Symbol;Acc:MGI:2159336]|Heterozygous||T|C|23|37.0|Non-synonymous|Line Propagating
833777|IGL00497|6|81957970|I->L|0.04|Benign|MGI:2141656|Aw146020|expressed sequence AW146020 [Source:MGI Symbol;Acc:MGI:2141656]|Heterozygous||A|T|22|36.0|Non-synonymous|Line Propagating
833778|IGL00497|9|108305916|L->Q|0.98|Probably damaging|MGI:1918829|Tcta|T-cell leukemia translocation altered gene [Source:MGI Symbol;Acc:MGI:1918829]|Heterozygous||A|T|22|35.0|Non-synonymous|Line Propagating
833780|IGL00497|10|127503664|I->T|1.0|Probably damaging|MGI:3606571|Stac3|SH3 and cysteine rich domain 3 [Source:MGI Symbol;Acc:MGI:3606571]|Heterozygous||T|C|20|37.0|Non-synonymous|Line Propagating
833782|IGL00497|6|55472279|V->I|0.97|Probably damaging|MGI:108449|Adcyap1r1|adenylate cyclase activating polypeptide 1 receptor 1 [Source:MGI Symbol;Acc:MGI:108449]|Heterozygous|Homozygotes for targeted mutations affect contextual fear conditioning, elevated locomotor activity, anxiety-like behavior, susceptibility to endotoxic shock, circadian responses to a photic stimulus, and glucose tolerance. Some alleles affect female fertility.|G|A|19|40.0|Non-synonymous|Line Propagating
833783|IGL00497|17|66817972|L->P|0.8|Possibly damaging|MGI:102694|Ptprm|protein tyrosine phosphatase, receptor type, M [Source:MGI Symbol;Acc:MGI:102694]|Heterozygous||A|G|16|39.0|Non-synonymous|Line Propagating
833784|IGL00497|4|81335742|I->S|0.56|Possibly damaging|MGI:1343489|Mpdz|multiple PDZ domain protein [Source:MGI Symbol;Acc:MGI:1343489]|Heterozygous||A|C|16|38.0|Non-synonymous|Line Propagating
833785|IGL00497|9|45752238|S->P|1.0|Probably damaging|MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule-like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|T|C|16|35.0|Non-synonymous|Line Propagating
833786|IGL00497|15|89422293|K->R|0.05|Benign|MGI:1098297|Cpt1b|carnitine palmitoyltransferase 1b, muscle [Source:MGI Symbol;Acc:MGI:1098297]|Heterozygous|Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected.|T|C|15|35.0|Non-synonymous|Line Propagating
833787|IGL00497|16|35834836|Y->C|1.0|Probably damaging|MGI:1919489|Parp14|poly (ADP-ribose) polymerase family, member 14 [Source:MGI Symbol;Acc:MGI:1919489]|Heterozygous||T|C|15|36.0|Non-synonymous|Line Propagating
833789|IGL00497|1|11186652|M->K|0.02|Benign|MGI:1923385|Prex2|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 [Source:MGI Symbol;Acc:MGI:1923385]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal Purkinje cell dendrite morphology and a mild motor coordination defect that progressively worsens with age and is more pronounced in females than in males.|T|A|14|40.5|Non-synonymous|Line Propagating
833790|IGL00497|12|84109438|R->C|1.0|Probably damaging|MGI:1921287|Acot6|acyl-CoA thioesterase 6 [Source:MGI Symbol;Acc:MGI:1921287]|Heterozygous||C|T|13|38.0|Non-synonymous|Line Propagating
833791|IGL00497|8|84695509|M->T|0.04|Benign|MGI:1919276|Trmt1|TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1289155]|Heterozygous||T|C|13|35.0|Non-synonymous|Line Propagating
833792|IGL00497|4|132227985|V->A||Benign|MGI:2135604|Gmeb1|glucocorticoid modulatory element binding protein 1 [Source:MGI Symbol;Acc:MGI:2135604]|Heterozygous||A|G|12|35.0|Non-synonymous|Line Propagating
833793|IGL00497|5|34243195|V->A|1.0|Probably damaging|MGI:2684992|Zfyve28|zinc finger, FYVE domain containing 28 [Source:MGI Symbol;Acc:MGI:2684992]|Heterozygous||A|G|12|37.5|Non-synonymous|Line Propagating
833794|IGL00497|12|50383481|D->E|0.04|Benign|MGI:99879|Prkd1|protein kinase D1 [Source:MGI Symbol;Acc:MGI:99879]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality.|A|T|10|41.0|Non-synonymous|Line Propagating
833795|IGL00497|1|52885190|Disrupted splicing||N/A|MGI:1923792|Hibch|3-hydroxyisobutyryl-Coenzyme A hydrolase [Source:MGI Symbol;Acc:MGI:1923792]|Heterozygous||A|G|42|37.0|Splice|Line Propagating
833796|IGL00497|6|11941424|Disrupted splicing||N/A|MGI:1923539|Phf14|PHD finger protein 14 [Source:MGI Symbol;Acc:MGI:1923539]|Heterozygous||T|C|34|41.0|Splice|Line Propagating
833797|IGL00497|17|53677102|Disrupted splicing||N/A|MGI:1919665|Sgol1|shugoshin-like 1 (S. pombe) [Source:MGI Symbol;Acc:MGI:1919665]|Heterozygous||A|G|29|40.0|Splice|Line Propagating
833798|IGL00497|1|74381898|Disrupted splicing||N/A|MGI:1345275|Slc11a1|solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 [Source:MGI Symbol;Acc:MGI:1345275]|Heterozygous|Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection.|A|G|23|39.0|Splice|Line Propagating
833799|IGL00497|11|117871005|Disrupted splicing||N/A|MGI:1919026|Tha1|threonine aldolase 1 [Source:MGI Symbol;Acc:MGI:1919026]|Heterozygous||T|C|23|35.0|Splice|Line Propagating
833800|IGL00497|12|87452580|Disrupted splicing||N/A|MGI:1913604|Snw1|SNW domain containing 1 [Source:MGI Symbol;Acc:MGI:1913604]|Heterozygous||A|G|23|40.0|Splice|Line Propagating
833801|IGL00497|3|79631291|Disrupted splicing||N/A|MGI:1923189|4930579g24rik|RIKEN cDNA 4930579G24 gene [Source:MGI Symbol;Acc:MGI:1923189]|Heterozygous||G|A|17|39.0|Splice|Line Propagating
834401|IGL00498|2|68601898|G->R|1.0|Probably damaging|MGI:3045336|4933409g03rik|RIKEN cDNA 4933409G03 gene [Source:MGI Symbol;Acc:MGI:3045336]|Heterozygous||G|A|62|39.0|Non-synonymous|Line Propagating
834402|IGL00498|13|115031193|V->A|0.02|Benign|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|A|G|43|39.0|Non-synonymous|Line Propagating
834404|IGL00498|5|86901225|S->P|1.0|Probably damaging|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||A|G|39|40.0|Non-synonymous|Line Propagating
834407|IGL00498|15|58116820|F->V|0.87|Possibly damaging|MGI:1917722|Atad2|ATPase family, AAA domain containing 2 [Source:MGI Symbol;Acc:MGI:1917722]|Heterozygous||A|C|30|35.0|Non-synonymous|Line Propagating
834408|IGL00498|5|142085606|Y->H|1.0|Probably damaging|MGI:2444413|Sdk1|sidekick homolog 1 (chicken) [Source:MGI Symbol;Acc:MGI:2444413]|Heterozygous||T|C|30|37.0|Non-synonymous|Line Propagating
834409|IGL00498|17|23674008|R->Q|1.0|Probably damaging|MGI:2663619|Hcfc1r1|host cell factor C1 regulator 1 (XPO1-dependent) [Source:MGI Symbol;Acc:MGI:2663619]|Heterozygous||G|A|29|36.0|Non-synonymous|Line Propagating
834410|IGL00498|2|34805941|A->T|0.92|Possibly damaging|MGI:1353435|Fbxw2|F-box and WD-40 domain protein 2 [Source:MGI Symbol;Acc:MGI:1353435]|Heterozygous||C|T|28|39.0|Non-synonymous|Line Propagating
834411|IGL00498|1|132303018|N->S||Benign|MGI:2442630|Klhdc8a|kelch domain containing 8A [Source:MGI Symbol;Acc:MGI:2442630]|Heterozygous||A|G|26|40.0|Non-synonymous|Line Propagating
834414|IGL00498|11|101080058|H->L|0.86|Possibly damaging|MGI:105077|Hsd17b1|hydroxysteroid (17-beta) dehydrogenase 1 [Source:MGI Symbol;Acc:MGI:105077]|Heterozygous||A|T|24|35.0|Non-synonymous|Line Propagating
834416|IGL00498|7|28091797|C->R|1.0|Probably damaging|MGI:2444336|Fcgbp|Fc fragment of IgG binding protein [Source:MGI Symbol;Acc:MGI:2444336]|Heterozygous||T|C|24|33.0|Non-synonymous|Line Propagating
834418|IGL00498|17|30677176|T->A|0.24|Benign|MGI:107714|Dnahc8|dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
834419|IGL00498|5|14540739|T->S|0.99|Probably damaging|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|T|21|36.0|Non-synonymous|Line Propagating
834420|IGL00498|10|123113596|S->L||Benign|MGI:101857|Usp15|ubiquitin specific peptidase 15 [Source:MGI Symbol;Acc:MGI:101857]|Heterozygous||G|A|20|35.5|Non-synonymous|Line Propagating
834421|IGL00498|6|80022546|W->R|1.0|Probably damaging|MGI:2389180|Lrrtm4|leucine rich repeat transmembrane neuronal 4 [Source:MGI Symbol;Acc:MGI:2389180]|Heterozygous||T|C|20|38.5|Non-synonymous|Line Propagating
834422|IGL00498|9|30428937|T->I|0.03|Benign|MGI:1921581|Snx19|sorting nexin 19 [Source:MGI Symbol;Acc:MGI:1921581]|Heterozygous||C|T|19|35.0|Non-synonymous|Line Propagating
834423|IGL00498|11|69817263|N->S|0.22|Benign|MGI:1918293|4933402p03rik|RIKEN cDNA 4933402P03 gene [Source:MGI Symbol;Acc:MGI:1918293]|Heterozygous||T|C|15|38.0|Non-synonymous|Line Propagating
834424|IGL00498|10|60185619|F->L|0.43|Benign|MGI:1858224|Chst3|carbohydrate (chondroitin 6/keratan) sulfotransferase 3 [Source:MGI Symbol;Acc:MGI:1858224]|Heterozygous|Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen.|A|G|14|36.5|Non-synonymous|Line Propagating
834425|IGL00498|8|111840478|E->G||Benign|MGI:1344403|Cfdp1|craniofacial development protein 1 [Source:MGI Symbol;Acc:MGI:1344403]|Heterozygous||T|C|14|37.0|Non-synonymous|Line Propagating
834427|IGL00498|11|98376530|V->D|0.58|Possibly damaging|MGI:1929618|Stard3|START domain containing 3 [Source:MGI Symbol;Acc:MGI:1929618]|Heterozygous|Mice homozygous for a truncated allele are viable and fertile and display mild defects in cholesterol metabolism.|T|A|13|35.0|Non-synonymous|Line Propagating
834428|IGL00498|13|73671719|M->K|0.3|Benign|MGI:1336892|Slc6a18|solute carrier family 6 (neurotransmitter transporter), member 18 [Source:MGI Symbol;Acc:MGI:1336892]|Heterozygous|Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.|A|T|12|38.5|Non-synonymous|Line Propagating
834429|IGL00498|7|28446385|R->L|0.36|Benign|MGI:1927135|Gmfg|glia maturation factor, gamma [Source:MGI Symbol;Acc:MGI:1927135]|Heterozygous||G|T|12|36.5|Non-synonymous|Line Propagating
834430|IGL00498|1|180106121|E->A|1.0|Probably damaging|MGI:2441841|Cdc42bpa|CDC42 binding protein kinase alpha [Source:MGI Symbol;Acc:MGI:2441841]|Heterozygous||A|C|11|39.0|Non-synonymous|Line Propagating
834431|IGL00498|4|124679739|V->A|1.0|Probably damaging|MGI:1914455|Utp11l|UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) [Source:MGI Symbol;Acc:MGI:1914455]|Heterozygous||A|G|11|36.0|Non-synonymous|Line Propagating
834432|IGL00498|7|49636474|D->G|0.83|Possibly damaging|MGI:94867|Dbx1|developing brain homeobox 1 [Source:MGI Symbol;Acc:MGI:94867]|Heterozygous|Mice homozygous for disruptions of this gene die at birth. V0 interneurons develop as V1 or dl6 interneurons.|T|C|10|34.5|Non-synonymous|Line Propagating
834433|IGL00498|8|70852880|S->P|1.0|Probably damaging|MGI:1933993|Kcnn1|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 [Source:MGI Symbol;Acc:MGI:1933993]|Heterozygous|Homozygous null mice display normal hippocampal morphology and afterhyperpolarization currents.|A|G|10|33.5|Non-synonymous|Line Propagating
834434|IGL00498|2|94083165|Disrupted splicing||N/A|MGI:1926967|Hsd17b12|hydroxysteroid (17-beta) dehydrogenase 12 [Source:MGI Symbol;Acc:MGI:1926967]|Heterozygous|Mice homozygous for a gene trap allele exhibit die around E8.5 with abnormal embryonic and extraembryonic tissue development. ES cells heterozygous for this allele exhibit reduced arachidonic acid levels.|A|C|37|36.0|Splice|Line Propagating
834436|IGL00498|5|104210155|Disrupted splicing||N/A|MGI:94910|Dmp1|dentin matrix protein 1 [Source:MGI Symbol;Acc:MGI:94910]|Heterozygous|Homozygous null mice do not exhibit an overt phenotype. Skeletal development is largely normal showing only modest increases in the size of the hypertrophic chondrocyte zones and the diameter of long bones.|A|G|31|38.0|Splice|Line Propagating
834437|IGL00498|3|104800947|Disrupted splicing||N/A|MGI:97054|Mov10|Moloney leukemia virus 10 [Source:MGI Symbol;Acc:MGI:97054]|Heterozygous||A|G|30|37.0|Splice|Line Propagating
834439|IGL00498|14|55501895|Disrupted splicing||N/A|MGI:2448573|Lrrc16b|leucine rich repeat containing 16B [Source:MGI Symbol;Acc:MGI:2448573]|Heterozygous||T|A|18|38.5|Splice|Line Propagating
834440|IGL00498|1|135161702|Disrupted splicing||N/A|MGI:1928503|Gpr37l1|G protein-coupled receptor 37-like 1 [Source:MGI Symbol;Acc:MGI:1928503]|Heterozygous|Mice homozygous for knockouts of this gene display a normal phenotype.|A|G|16|37.0|Splice|Line Propagating
834442|IGL00498|7|119542438|Disrupted splicing||N/A|MGI:2444086|Acsm5|acyl-CoA synthetase medium-chain family member 5 [Source:MGI Symbol;Acc:MGI:2444086]|Heterozygous||T|C|10|36.0|Splice|Line Propagating
834443|IGL00498|8|34861689|Disrupted splicing||N/A|MGI:1341087|Tnks|tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase [Source:MGI Symbol;Acc:MGI:1341087]|Heterozygous|Mice homozygous for a null allele fail to exhibit any abonormalities. Male mice homozygous for a gene trapped allele exhibit decreased fat pad weight, increased metabolism, hyperinsulinemia, and hypoglycemia.|G|T|10|40.0|Splice|Line Propagating
835858|IGL00500|18|54988333|T->S||Benign|MGI:2442338|Zfp608|zinc finger protein 608 [Source:MGI Symbol;Acc:MGI:2442338]|Heterozygous||T|A|79|37.0|Non-synonymous|Line Propagating
835859|IGL00500|4|114194709|C->S||Benign|MGI:2685415|Skint11|selection and upkeep of intraepithelial T cells 11 [Source:MGI Symbol;Acc:MGI:2685415]|Heterozygous||T|A|64|39.0|Non-synonymous|Line Propagating
835860|IGL00500|8|15921139|V->M|0.99|Probably damaging|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||C|T|64|35.0|Non-synonymous|Line Propagating
835861|IGL00500|2|168183323|V->A|0.97|Probably damaging|MGI:1338758|Adnp|activity-dependent neuroprotective protein [Source:MGI Symbol;Acc:MGI:1338758]|Heterozygous|Developmental defects including the failure of the cranial neural tube to close lead to embryonic death between E8.5 and E9.|A|G|59|35.0|Non-synonymous|Line Propagating
835862|IGL00500|16|44111583|Q->R||Benign|MGI:1201780|Atp6v1a|ATPase, H+ transporting, lysosomal V1 subunit A [Source:MGI Symbol;Acc:MGI:1201780]|Heterozygous||T|C|56|41.0|Non-synonymous|Line Propagating
835864|IGL00500|17|25885085|E->G|0.88|Possibly damaging|MGI:2183454|Rab40c|Rab40c, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:2183454]|Heterozygous||T|C|48|35.0|Non-synonymous|Line Propagating
835866|IGL00500|5|88328691|Stop->C||N/A|MGI:107496|Prol1|proline rich, lacrimal 1 [Source:MGI Symbol;Acc:MGI:107496]|Heterozygous||A|T|41|38.0|Non-synonymous|Line Propagating
835868|IGL00500|17|17877001|Q->L|0.54|Possibly damaging|MGI:107443|Fpr1|formyl peptide receptor 1 [Source:MGI Symbol;Acc:MGI:107443]|Heterozygous|Targeted null mice are viable and developmentally normal but show increased susceptibility to L. monocytogenes challenge, as shown by increased mortality and bacterial burden in liver/spleen early post-infection. Mutant neutrophils fail to respond to fMLF either in calcium flux or chemotaxis assays.|T|A|38|36.5|Non-synonymous|Line Propagating
835870|IGL00500|10|77720980|C->F|0.85|Possibly damaging|MGI:1328315|Krtap12-1|keratin associated protein 12-1 [Source:MGI Symbol;Acc:MGI:1328315]|Heterozygous||G|T|36|35.5|Non-synonymous|Line Propagating
835871|IGL00500|17|85003284|S->G|1.0|Probably damaging|MGI:101841|Ppm1b|protein phosphatase 1B, magnesium dependent, beta isoform [Source:MGI Symbol;Acc:MGI:101841]|Heterozygous|Homozygous mutation of this gene results in early pre-implantation lethality.|A|G|36|38.0|Non-synonymous|Line Propagating
835872|IGL00500|4|117877181|L->Q|0.99|Probably damaging|MGI:1858493|B4galt2|UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1858493]|Heterozygous|Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination.|A|T|35|35.0|Non-synonymous|Line Propagating
835874|IGL00500|19|56372909|K->N|1.0|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||T|A|34|38.0|Non-synonymous|Line Propagating
835875|IGL00500|18|68275783|T->I|0.99|Probably damaging|MGI:1914000|4933403f05rik|RIKEN cDNA 4933403F05 gene [Source:MGI Symbol;Acc:MGI:1914000]|Heterozygous||G|A|30|37.0|Non-synonymous|Line Propagating
835876|IGL00500|3|116772820|W->R||N/A|MGI:1924809|Agl|amylo-1,6-glucosidase, 4-alpha-glucanotransferase [Source:MGI Symbol;Acc:MGI:1924809]|Heterozygous||A|G|29|37.0|Non-synonymous|Line Propagating
835877|IGL00500|8|31822314|E->V|0.99|Probably damaging|MGI:96083|Nrg1|neuregulin 1 [Source:MGI Symbol;Acc:MGI:96083]|Heterozygous|Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors.|T|A|29|37.0|Non-synonymous|Line Propagating
835878|IGL00500|7|102112408|C->Stop||N/A|MGI:3609260|Chrna10|cholinergic receptor, nicotinic, alpha polypeptide 10 [Source:MGI Symbol;Acc:MGI:3609260]|Heterozygous||A|T|28|36.5|Non-synonymous|Line Propagating
835879|IGL00500|10|77564724|W->R|1.0|Probably damaging|MGI:96611|Itgb2|integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]|Heterozygous|Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.|T|A|26|37.0|Non-synonymous|Line Propagating
835881|IGL00500|2|164190250|I->N|0.9|Possibly damaging|MGI:2183434|Wfdc12|WAP four-disulfide core domain 12 [Source:MGI Symbol;Acc:MGI:2183434]|Heterozygous||A|T|24|39.0|Non-synonymous|Line Propagating
835882|IGL00500|7|119784344|E->G|1.0|Probably damaging|MGI:99538|Acsm3|acyl-CoA synthetase medium-chain family member 3 [Source:MGI Symbol;Acc:MGI:99538]|Heterozygous|Homozygous null mice are viable and fertile with normal kidney function and morphology and blood pressure similar to wild-type on either a regular or high salt diet.|A|G|24|37.5|Non-synonymous|Line Propagating
835883|IGL00500|13|60760804|D->G|0.99|Probably damaging|MGI:1916885|Dapk1|death associated protein kinase 1 [Source:MGI Symbol;Acc:MGI:1916885]|Heterozygous|Mice homozygous for a knock-out allele show decreased sensitivity to ER stress-induced cell death and reduced tunicamycin-induced kidney damage. Mice homozygous for a gene trapped allele show decreased infarct size and neuronal death with improved neurological scores after ischemic brain injury.|A|G|22|35.0|Non-synonymous|Line Propagating
835884|IGL00500|2|125317516|Q->L|0.99|Probably damaging|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|T|A|19|36.0|Non-synonymous|Line Propagating
835885|IGL00500|7|127092333|V->I|0.12|Benign|MGI:2141979|Ai467606|expressed sequence AI467606 [Source:MGI Symbol;Acc:MGI:2141979]|Heterozygous||G|A|16|34.5|Non-synonymous|Line Propagating
835888|IGL00500|12|51353798|Disrupted splicing||N/A|MGI:2444298|G2e3|G2/M-phase specific E3 ubiquitin ligase [Source:MGI Symbol;Acc:MGI:2444298]|Heterozygous|Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst.|A|G|38|39.0|Splice|Line Propagating
835889|IGL00500|8|84888517|Disrupted splicing||N/A|MGI:104541|Gcdh|glutaryl-Coenzyme A dehydrogenase [Source:MGI Symbol;Acc:MGI:104541]|Heterozygous|Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid.|C|T|36|37.0|Splice|Line Propagating
835891|IGL00500|11|101165693|Disrupted splicing||N/A|MGI:2384950|Plekhh3|pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 [Source:MGI Symbol;Acc:MGI:2384950]|Heterozygous||T|A|22|38.0|Splice|Line Propagating
835892|IGL00500|5|134500157|Disrupted splicing||N/A|MGI:1313136|Clip2|CAP-GLY domain containing linker protein 2 [Source:MGI Symbol;Acc:MGI:1313136]|Heterozygous|Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination.|A|G|21|36.0|Splice|Line Propagating
837412|IGL00502|13|38197846|S->P|0.9|Possibly damaging|MGI:109611|Dsp|desmoplakin [Source:MGI Symbol;Acc:MGI:109611]|Heterozygous|Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes.|T|C|52|35.0|Non-synonymous|Line Propagating
837413|IGL00502|7|89923610|T->I|0.87|Possibly damaging|MGI:96738|L7rn6|lethal, Chr 7, Rinchik 6 [Source:MGI Symbol;Acc:MGI:96738]|Heterozygous|Mice homozygous for an ENU-induced mutation die prenatally or neonatally.|G|A|50|35.0|Non-synonymous|Line Propagating
837414|IGL00502|13|89692319|V->A||Benign|MGI:102889|Vcan|versican [Source:MGI Symbol;Acc:MGI:102889]|Heterozygous|Homozygotes for an insertional mutation exhibit anterior-posterior segmental defects of the heart, lack endocardial cushions of the conus and atrioventricular region, and die and around embryonic day 10.5.|A|G|49|38.0|Non-synonymous|Line Propagating
837415|IGL00502|19|45527265|E->V|0.83|Possibly damaging|MGI:1338871|Btrc|beta-transducin repeat containing protein [Source:MGI Symbol;Acc:MGI:1338871]|Heterozygous|Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia.|A|T|49|36.0|Non-synonymous|Line Propagating
837416|IGL00502|2|69183992|S->P||Benign|MGI:3606242|Nostrin|nitric oxide synthase trafficker [Source:MGI Symbol;Acc:MGI:3606242]|Heterozygous||T|C|49|37.0|Non-synonymous|Line Propagating
837417|IGL00502|3|103330182|P->S||Benign|MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|C|T|47|38.0|Non-synonymous|Line Propagating
837422|IGL00502|4|81369723|D->G|1.0|Probably damaging|MGI:1343489|Mpdz|multiple PDZ domain protein [Source:MGI Symbol;Acc:MGI:1343489]|Heterozygous||T|C|45|39.0|Non-synonymous|Line Propagating
837423|IGL00502|12|84649063|I->F|0.01|Benign|MGI:3588197|Vrtn|vertebrae development homolog (pig) [Source:MGI Symbol;Acc:MGI:3588197]|Heterozygous||A|T|44|37.5|Non-synonymous|Line Propagating
837428|IGL00502|4|118581001|M->L||Benign|MGI:2686209|Wdr65|WD repeat domain 65 [Source:MGI Symbol;Acc:MGI:2686209]|Heterozygous||T|A|39|35.0|Non-synonymous|Line Propagating
837429|IGL00502|4|34809775|T->A|0.29|Benign|MGI:1353423|Zfp292|zinc finger protein 292 [Source:MGI Symbol;Acc:MGI:1353423]|Heterozygous||T|C|38|38.5|Non-synonymous|Line Propagating
837430|IGL00502|5|21301422|C->R|0.76|Possibly damaging|MGI:1922422|Ccdc146|coiled-coil domain containing 146 [Source:MGI Symbol;Acc:MGI:1922422]|Heterozygous||A|G|38|37.0|Non-synonymous|Line Propagating
837432|IGL00502|15|100807438|T->A|1.0|Probably damaging|MGI:1928745|Slc4a8|solute carrier family 4 (anion exchanger), member 8 [Source:MGI Symbol;Acc:MGI:1928745]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal sodium and chloride ion excretion.|A|G|36|36.5|Non-synonymous|Line Propagating
837433|IGL00502|2|158531158|D->G|0.53|Possibly damaging|MGI:3649852|Arhgap40|Rho GTPase activating protein 40 [Source:MGI Symbol;Acc:MGI:3649852]|Heterozygous||A|G|35|35.0|Non-synonymous|Line Propagating
837434|IGL00502|3|108077396|L->H|1.0|Probably damaging|MGI:88016|Ampd2|adenosine monophosphate deaminase 2 [Source:MGI Symbol;Acc:MGI:88016]|Heterozygous||A|T|35|37.0|Non-synonymous|Line Propagating
837435|IGL00502|15|63804421|T->A|0.6|Possibly damaging|MGI:1933176|Gsdmc|gasdermin C [Source:MGI Symbol;Acc:MGI:1933176]|Heterozygous||T|C|34|37.0|Non-synonymous|Line Propagating
837436|IGL00502|4|141111364|N->K|0.28|Benign|MGI:3607787|Spata21|spermatogenesis associated 21 [Source:MGI Symbol;Acc:MGI:3607787]|Heterozygous||C|A|34|35.0|Non-synonymous|Line Propagating
837437|IGL00502|10|40920297|I->F||Unknown|MGI:1890563|Wasf1|WASP family 1 [Source:MGI Symbol;Acc:MGI:1890563]|Heterozygous|Mutation of this gene has been associated with both morphological and functional defects of the central nervous system. Targeted mutagenesis has resulted in mice that display sensorimotor and cognitive defects similar to those exhibited by patients with 3p-syndrome mental retardation.|A|T|33|37.0|Non-synonymous|Line Propagating
837438|IGL00502|2|24651200|Y->Stop||N/A|MGI:88296|Cacna1b|calcium channel, voltage-dependent, N type, alpha 1B subunit [Source:MGI Symbol;Acc:MGI:88296]|Heterozygous|Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation.|A|T|32|39.0|Non-synonymous|Line Propagating
837439|IGL00502|19|29446062|T->S|0.93|Possibly damaging|MGI:1930125|Pdcd1lg2|programmed cell death 1 ligand 2 [Source:MGI Symbol;Acc:MGI:1930125]|Heterozygous|Mice homozygous for disruptions in this gene have dendritic cells that display a diminished ability to activate CD4+ T cells.|A|T|31|37.0|Non-synonymous|Line Propagating
837440|IGL00502|X|37164072|N->K||Unknown|MGI:3618288|Akap14|A kinase (PRKA) anchor protein 14 [Source:MGI Symbol;Acc:MGI:3618288]|Heterozygous||G|T|30|30.0|Non-synonymous|Line Propagating
837441|IGL00502|18|44847812|I->M|0.98|Probably damaging|MGI:2448561|Ythdc2|YTH domain containing 2 [Source:MGI Symbol;Acc:MGI:2448561]|Heterozygous||A|G|29|39.0|Non-synonymous|Line Propagating
837442|IGL00502|8|88252258|Q->Stop||N/A|MGI:1917820|Papd5|PAP associated domain containing 5 [Source:MGI Symbol;Acc:MGI:1917820]|Heterozygous||C|T|27|37.0|Non-synonymous|Line Propagating
837444|IGL00502|2|33228394|V->E|1.0|Probably damaging|MGI:1347002, MGI:1922008|Angptl2,ralgps1|angiopoietin-like 2 [Source:MGI Symbol;Acc:MGI:1347002],Ral GEF with PH domain and SH3 binding motif 1 [Source:MGI Symbol;Acc:MGI:1922008]|Heterozygous|NO_PHENOTYPE,When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls.|T|A|25|35.0|Non-synonymous|Line Propagating
837445|IGL00502|8|124328098|M->T|0.78|Possibly damaging|MGI:894694|Galnt2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:894694]|Heterozygous||T|C|24|35.0|Non-synonymous|Line Propagating
837446|IGL00502|1|63678840|V->A|0.19|Benign|MGI:2685061|Dytn|dystrotelin [Source:MGI Symbol;Acc:MGI:2685061]|Heterozygous||A|G|23|40.0|Non-synonymous|Line Propagating
837447|IGL00502|11|87777821|I->V|0.99|Probably damaging|MGI:2450877|Bzrap1|benzodiazepine receptor associated protein 1 [Source:MGI Symbol;Acc:MGI:2450877]|Heterozygous||A|G|23|35.0|Non-synonymous|Line Propagating
837448|IGL00502|18|43310445|T->I|0.98|Probably damaging|MGI:2442403|Stk32a|serine/threonine kinase 32A [Source:MGI Symbol;Acc:MGI:2442403]|Heterozygous||C|T|23|39.0|Non-synonymous|Line Propagating
837449|IGL00502|7|116135184|M->K|1.0|Probably damaging|MGI:2445094|Plekha7|pleckstrin homology domain containing, family A member 7 [Source:MGI Symbol;Acc:MGI:2445094]|Heterozygous||A|T|23|35.0|Non-synonymous|Line Propagating
837450|IGL00502|10|43958313|V->I|0.98|Probably damaging|MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||C|T|21|35.0|Non-synonymous|Line Propagating
837451|IGL00502|15|94403397|I->N|0.95|Possibly damaging|MGI:2660628|Adamts20|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 [Source:MGI Symbol;Acc:MGI:2660628]|Heterozygous|Homozygous mutants have a white belt across the back in the midtrunk region and a white belly patch that coalesces to form a white belt.|A|T|20|35.0|Non-synonymous|Line Propagating
837452|IGL00502|3|32744899|V->D|0.83|Possibly damaging|MGI:1913296|Ndufb5|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 [Source:MGI Symbol;Acc:MGI:1913296]|Heterozygous||T|A|19|35.0|Non-synonymous|Line Propagating
837453|IGL00502|2|28614785|Q->Stop||N/A|MGI:1276578|Gfi1b|growth factor independent 1B [Source:MGI Symbol;Acc:MGI:1276578]|Heterozygous|Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop.|G|A|18|36.5|Non-synonymous|Line Propagating
837455|IGL00502|2|130143545|C->G|0.02|Benign|MGI:3044321|Tgm6|transglutaminase 6 [Source:MGI Symbol;Acc:MGI:3044321]|Heterozygous||T|G|16|31.5|Non-synonymous|Line Propagating
837456|IGL00502|7|114554603|T->A|0.99|Probably damaging|MGI:2449771|Cyp2r1|cytochrome P450, family 2, subfamily r, polypeptide 1 [Source:MGI Symbol;Acc:MGI:2449771]|Heterozygous||T|C|13|38.0|Non-synonymous|Line Propagating
837457|IGL00502|15|39506984|D->V|1.0|Probably damaging|MGI:2152972|Rims2|regulating synaptic membrane exocytosis 2 [Source:MGI Symbol;Acc:MGI:2152972]|Heterozygous|Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.|A|T|11|38.0|Non-synonymous|Line Propagating
837459|IGL00502|2|110771050|Disrupted splicing||N/A|MGI:3613666|Ano3|anoctamin 3 [Source:MGI Symbol;Acc:MGI:3613666]|Heterozygous||G|A|41|38.0|Splice|Line Propagating
837461|IGL00502|11|121297099|Disrupted splicing||N/A|MGI:1916087|Foxk2|forkhead box K2 [Source:MGI Symbol;Acc:MGI:1916087]|Heterozygous||A|G|23|39.0|Splice|Line Propagating
847786|IGL00505|X|72838365|S->P|1.0|Probably damaging|MGI:1888498|Gabrq|gamma-aminobutyric acid (GABA) A receptor, subunit theta [Source:MGI Symbol;Acc:MGI:1888498]|Heterozygous|Males hemizygous for a mutation in this gene exhibit decreased prepulse inhibition.|T|C|42|37.0|Non-synonymous|Line Propagating
847787|IGL00505|3|36457497|S->P|0.99|Probably damaging|MGI:106008|Anxa5|annexin A5 [Source:MGI Symbol;Acc:MGI:106008]|Heterozygous|Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters.|A|G|35|39.0|Non-synonymous|Line Propagating
847788|IGL00505|4|96630775|N->K|0.87|Possibly damaging|MGI:1270149|Cyp2j5|cytochrome P450, family 2, subfamily j, polypeptide 5 [Source:MGI Symbol;Acc:MGI:1270149]|Heterozygous|Female mice homozygous for a null mutation display increased systolic blood pressure, increased left ventricular weight, decreased litter sizes, decreased serum estrogen levels, and increased induced vasoconstriction responses.|A|T|34|38.0|Non-synonymous|Line Propagating
847790|IGL00505|11|104521432|T->P||Benign|MGI:102685|Cdc27|cell division cycle 27 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:102685]|Heterozygous||T|G|25|37.0|Non-synonymous|Line Propagating
847793|IGL00505|9|111635039|R->Q|1.0|Probably damaging|MGI:1201400|Stac|src homology three (SH3) and cysteine rich domain [Source:MGI Symbol;Acc:MGI:1201400]|Heterozygous||C|T|22|38.0|Non-synonymous|Line Propagating
847794|IGL00505|2|72389483|F->S|1.0|Probably damaging|MGI:2443258|B230120h23rik|RIKEN cDNA B230120H23 gene [Source:MGI Symbol;Acc:MGI:2443258]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
847795|IGL00505|2|18734184|N->K|0.41|Benign|MGI:3040687|Bc061194|cDNA sequence BC061194 [Source:MGI Symbol;Acc:MGI:3040687]|Heterozygous||C|A|19|35.0|Non-synonymous|Line Propagating
847796|IGL00505|3|108151198|M->T|1.0|Probably damaging|MGI:2441719|Gpr61|G protein-coupled receptor 61 [Source:MGI Symbol;Acc:MGI:2441719]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
847797|IGL00505|12|52887102|H->R|0.98|Probably damaging|MGI:3050566|Akap6|A kinase (PRKA) anchor protein 6 [Source:MGI Symbol;Acc:MGI:3050566]|Heterozygous||A|G|14|40.0|Non-synonymous|Line Propagating
847798|IGL00505|7|143847068|Y->H|1.0|Probably damaging|MGI:1298378|Dhcr7|7-dehydrocholesterol reductase [Source:MGI Symbol;Acc:MGI:1298378]|Heterozygous|Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate.|T|C|13|35.0|Non-synonymous|Line Propagating
847799|IGL00505|11|63070238|S->G||Benign|MGI:1918312|Tekt3|tektin 3 [Source:MGI Symbol;Acc:MGI:1918312]|Heterozygous|Mice homozygous for a null allele exhibit defective sperm motility.|A|G|12|37.0|Non-synonymous|Line Propagating
847800|IGL00505|16|36753775|C->F|0.75|Possibly damaging|MGI:1890457|Slc15a2|solute carrier family 15 (H+/peptide transporter), member 2 [Source:MGI Symbol;Acc:MGI:1890457]|Heterozygous|Homozygous mutant mice have impairments of dipeptide transportion, however, show no gross defects.|C|A|12|41.0|Non-synonymous|Line Propagating
847801|IGL00505|4|34029077|I->T|0.98|Probably damaging|MGI:1914902|Spaca1|sperm acrosome associated 1 [Source:MGI Symbol;Acc:MGI:1914902]|Heterozygous||A|G|12|38.5|Non-synonymous|Line Propagating
847802|IGL00505|8|22580377|G->S|1.0|Probably damaging|MGI:106922|Vdac3|voltage-dependent anion channel 3 [Source:MGI Symbol;Acc:MGI:106922]|Heterozygous|Homozygous null mutants are male sterile with reduced sperm motility and structural defects in the majority of axonemes in epididymal sperm. Mutants of both genders show deficits in behavioral tests measuring contextual or cued fear conditioning.|C|T|12|37.0|Non-synonymous|Line Propagating
847803|IGL00505|14|30043029|S->P|1.0|Probably damaging|MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|A|G|11|35.0|Non-synonymous|Line Propagating
847804|IGL00505|5|114953422|M->T|1.0|Probably damaging|MGI:98504|Hnf1a|HNF1 homeobox A [Source:MGI Symbol;Acc:MGI:98504]|Heterozygous|Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin.|A|G|10|35.0|Non-synonymous|Line Propagating
847805|IGL00505|7|120369236|Disrupted splicing||N/A|MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||T|A|35|36.0|Splice|Line Propagating
847808|IGL00505|3|123627950|Disrupted splicing||N/A|MGI:1932544|Ndst3|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 [Source:MGI Symbol;Acc:MGI:1932544]|Heterozygous|Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation.|G|A|12|40.0|Splice|Line Propagating
849852|IGL00528|7|43409057|R->G|1.0|Probably damaging|MGI:2443630|Siglecg|sialic acid binding Ig-like lectin G [Source:MGI Symbol;Acc:MGI:2443630]|Heterozygous|Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies.|A|G|14|40.0|Non-synonymous|Line Propagating
849853|IGL00528|7|127136520|R->S|0.95|Possibly damaging|MGI:98384|Spn|sialophorin [Source:MGI Symbol;Acc:MGI:98384]|Heterozygous|Mice homozygous for a knock-out allele show increased T cell proliferation in response to various stimulation agents and natural antigens, enhanced homotypic adhesion, transient resistance to melanoma growth and metastasis, and decreased susceptibility to experimental autoimmune encephalomyelitis.|G|T|14|37.5|Non-synonymous|Line Propagating
849854|IGL00528|5|14676434|E->K|1.0|Probably damaging|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|G|A|12|38.5|Non-synonymous|Line Propagating
851636|IGL00532|12|101044653|L->P|1.0|Probably damaging|MGI:1915984|Smek1|SMEK homolog 1, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:1915984]|Heterozygous||A|G|23|41.0|Non-synonymous|Line Propagating
851637|IGL00532|9|18456587|C->S|1.0|Probably damaging|MGI:1921681|Zfp558|zinc finger protein 558 [Source:MGI Symbol;Acc:MGI:1921681]|Heterozygous||A|T|18|40.0|Non-synonymous|Line Propagating
851638|IGL00532|14|80021143|V->A|0.04|Benign|MGI:2685142|Olfm4|olfactomedin 4 [Source:MGI Symbol;Acc:MGI:2685142]|Heterozygous||T|C|15|38.0|Non-synonymous|Line Propagating
851639|IGL00532|10|26251846|H->R|1.0|Probably damaging|MGI:2685469|Samd3|sterile alpha motif domain containing 3 [Source:MGI Symbol;Acc:MGI:2685469]|Heterozygous||A|G|12|37.0|Non-synonymous|Line Propagating
851640|IGL00532|12|101463119|V->M||Unknown|MGI:2443988|Catsperb|cation channel, sperm-associated, beta [Source:MGI Symbol;Acc:MGI:2443988]|Heterozygous||G|A|12|41.0|Non-synonymous|Line Propagating
851641|IGL00532|2|113834066|V->A||Benign|MGI:2444300|Arhgap11a|Rho GTPase activating protein 11A [Source:MGI Symbol;Acc:MGI:2444300]|Heterozygous||A|G|12|39.5|Non-synonymous|Line Propagating
854901|IGL00538|3|62501045|E->G||Benign|MGI:1919412|Dhx36|DEAH (Asp-Glu-Ala-His) box polypeptide 36 [Source:MGI Symbol;Acc:MGI:1919412]|Heterozygous||T|C|67|39.0|Non-synonymous|Line Propagating
854902|IGL00538|11|106071979|I->N|1.0|Probably damaging|MGI:1917457|Taco1|translational activator of mitochondrially encoded cytochrome c oxidase I [Source:MGI Symbol;Acc:MGI:1917457]|Heterozygous||T|A|48|37.0|Non-synonymous|Line Propagating
854903|IGL00538|6|3376779|Y->N|0.41|Benign|MGI:1343184|Samd9l|sterile alpha motif domain containing 9-like [Source:MGI Symbol;Acc:MGI:1343184]|Heterozygous||A|T|27|37.0|Non-synonymous|Line Propagating
854905|IGL00538|10|53606131|L->P|1.0|Probably damaging|MGI:1918817, MGI:1913653|Asf1a,mcm9|minichromosome maintenance complex component 9 [Source:MGI Symbol;Acc:MGI:1918817],ASF1 anti-silencing function 1 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913653]|Heterozygous||T|C|22|40.0|Non-synonymous|Line Propagating
854906|IGL00538|16|36858586|V->F|0.8|Possibly damaging|MGI:2443764|Iqcb1|IQ calmodulin-binding motif containing 1 [Source:MGI Symbol;Acc:MGI:2443764]|Heterozygous||G|T|18|39.0|Non-synonymous|Line Propagating
854907|IGL00538|5|77004056|M->K||Unknown|MGI:1915496|Arl9|ADP-ribosylation factor-like 9 [Source:MGI Symbol;Acc:MGI:1915496]|Heterozygous||T|A|18|39.0|Non-synonymous|Line Propagating
854908|IGL00538|5|105607210|V->I|0.31|Benign|MGI:2140839|Lrrc8c|leucine rich repeat containing 8 family, member C [Source:MGI Symbol;Acc:MGI:2140839]|Heterozygous||G|A|17|40.0|Non-synonymous|Line Propagating
854909|IGL00538|13|56773809|N->K||Benign|MGI:1349470|Trpc7|transient receptor potential cation channel, subfamily C, member 7 [Source:MGI Symbol;Acc:MGI:1349470]|Heterozygous||A|T|16|35.0|Non-synonymous|Line Propagating
854911|IGL00538|17|79335455|A->V|0.71|Possibly damaging|MGI:2384718|Cdc42ep3|CDC42 effector protein (Rho GTPase binding) 3 [Source:MGI Symbol;Acc:MGI:2384718]|Heterozygous||G|A|13|37.0|Non-synonymous|Line Propagating
854912|IGL00538|8|48236025|H->N||N/A|MGI:1345183|Odz3|odd Oz/ten-m homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1345183]|Heterozygous|Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks.|G|T|13|35.0|Non-synonymous|Line Propagating
854913|IGL00538|2|130599888|N->S|1.0|Probably damaging|MGI:2154658|Ubox5|U box domain containing 5 [Source:MGI Symbol;Acc:MGI:2154658]|Heterozygous||T|C|12|37.0|Non-synonymous|Line Propagating
854914|IGL00538|5|16246785|R->Stop||N/A|MGI:88295|Cacna2d1|calcium channel, voltage-dependent, alpha2/delta subunit 1 [Source:MGI Symbol;Acc:MGI:88295]|Heterozygous|Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.|C|T|12|35.0|Non-synonymous|Line Propagating
854915|IGL00538|X|9850005|D->E||Benign|MGI:1922521|4930557a04rik|RIKEN cDNA 4930557A04 gene [Source:MGI Symbol;Acc:MGI:1922521]|Heterozygous||T|A|12|40.0|Non-synonymous|Line Propagating
854916|IGL00538|6|102420262|Q->Stop||N/A|MGI:99534|Cntn3|contactin 3 [Source:MGI Symbol;Acc:MGI:99534]|Heterozygous||G|A|10|40.0|Non-synonymous|Line Propagating
854917|IGL00538|8|57552522|T->S|0.94|Possibly damaging|MGI:1349449|Galnt7|UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 7 [Source:MGI Symbol;Acc:MGI:1349449]|Heterozygous||T|A|10|37.5|Non-synonymous|Line Propagating
854928|IGL00538|5|145578200|Disrupted splicing||N/A|MGI:3714859|Cyp3a41b|cytochrome P450, family 3, subfamily a, polypeptide 41B [Source:MGI Symbol;Acc:MGI:3714859]|Heterozygous||G|A|13|40.0|Splice|Line Propagating
864599|IGL00555|5|86119407|F->I|0.06|Benign|MGI:1913894|Uba6|ubiquitin-like modifier activating enzyme 6 [Source:MGI Symbol;Acc:MGI:1913894]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality.|A|T|26|41.0|Non-synonymous|Line Propagating
864600|IGL00555|12|21328109|V->A|1.0|Probably damaging|MGI:1096335|Adam17|a disintegrin and metallopeptidase domain 17 [Source:MGI Symbol;Acc:MGI:1096335]|Heterozygous|Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs.|A|G|23|39.0|Non-synonymous|Line Propagating
864601|IGL00555|15|16823406|F->S|1.0|Probably damaging|MGI:107433|Cdh9|cadherin 9 [Source:MGI Symbol;Acc:MGI:107433]|Heterozygous||T|C|19|39.0|Non-synonymous|Line Propagating
864602|IGL00555|8|109998785|T->A|0.97|Probably damaging|MGI:98487|Tat|tyrosine aminotransferase [Source:MGI Symbol;Acc:MGI:98487]|Heterozygous||A|G|19|36.0|Non-synonymous|Line Propagating
864603|IGL00555|11|17947535|M->K|0.02|Benign|MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||A|T|18|39.0|Non-synonymous|Line Propagating
864604|IGL00555|12|85747323|I->F|0.99|Probably damaging|MGI:2384974|Mfsd7c|major facilitator superfamily domain containing 7C [Source:MGI Symbol;Acc:MGI:2384974]|Heterozygous||A|T|17|38.0|Non-synonymous|Line Propagating
864605|IGL00555|2|102304479|Stop->R||N/A|MGI:1931835|Trim44|tripartite motif-containing 44 [Source:MGI Symbol;Acc:MGI:1931835]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
864606|IGL00555|17|65984976|V->A||N/A|MGI:1914357|Ankrd12|ankyrin repeat domain 12 [Source:MGI Symbol;Acc:MGI:1914357]|Heterozygous||A|G|16|39.5|Non-synonymous|Line Propagating
864608|IGL00555|1|53346628|N->S|1.0|Probably damaging|MGI:1917646|Asnsd1|asparagine synthetase domain containing 1 [Source:MGI Symbol;Acc:MGI:1917646]|Heterozygous||T|C|14|39.0|Non-synonymous|Line Propagating
864609|IGL00555|5|120485810|M->K|0.05|Benign|MGI:1919022|Plbd2|phospholipase B domain containing 2 [Source:MGI Symbol;Acc:MGI:1919022]|Heterozygous||A|T|13|36.0|Non-synonymous|Line Propagating
864610|IGL00555|6|124522291|F->L||Benign|MGI:1355313|C1ra|complement component 1, r subcomponent A [Source:MGI Symbol;Acc:MGI:1355313]|Heterozygous||T|C|13|33.0|Non-synonymous|Line Propagating
864611|IGL00555|3|102520472|H->R|0.96|Probably damaging|MGI:97321|Ngf|nerve growth factor [Source:MGI Symbol;Acc:MGI:97321]|Heterozygous|Homozygous null mutants exhibit elevated pain threshold, loss of neurons in both sensory and sympathetic ganglia, but diminished apoptosis in the retina and spinal cord. Heterozygotes exhibit a substantially reduced number of sympathetic neurons.|A|G|12|35.5|Non-synonymous|Line Propagating
864612|IGL00555|13|51461343|S->P||Benign|MGI:106179|Shc3|src homology 2 domain-containing transforming protein C3 [Source:MGI Symbol;Acc:MGI:106179]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|10|39.0|Non-synonymous|Line Propagating
864621|IGL00555|15|58951468|Disrupted splicing||N/A|MGI:2384818|Mtss1|metastasis suppressor 1 [Source:MGI Symbol;Acc:MGI:2384818]|Heterozygous|Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology.|A|G|16|36.0|Splice|Line Propagating
865142|IGL00556|12|96047060|T->P||Unknown|MGI:1916673|1700019m22rik|RIKEN cDNA 1700019M22 gene [Source:MGI Symbol;Acc:MGI:1916673]|Heterozygous||T|G|70|38.5|Non-synonymous|Line Propagating
865143|IGL00556|2|52191949|R->G|0.96|Probably damaging|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||T|C|40|39.5|Non-synonymous|Line Propagating
865144|IGL00556|14|64744888|N->K|1.0|Probably damaging|MGI:1098265|Kif13b|kinesin family member 13B [Source:MGI Symbol;Acc:MGI:1098265]|Heterozygous||T|A|31|39.0|Non-synonymous|Line Propagating
865145|IGL00556|18|34497435|D->G|0.94|Possibly damaging|MGI:2447834|Fam13b|family with sequence similarity 13, member B [Source:MGI Symbol;Acc:MGI:2447834]|Heterozygous||T|C|27|32.0|Non-synonymous|Line Propagating
865146|IGL00556|5|86926196|L->F||Benign|MGI:1919023|Ugt2b1|UDP glucuronosyltransferase 2 family, polypeptide B1 [Source:MGI Symbol;Acc:MGI:1919023]|Heterozygous||T|A|25|40.0|Non-synonymous|Line Propagating
865147|IGL00556|7|98716137|V->D|0.75|Possibly damaging|MGI:1920231|Prkrir|protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) [Source:MGI Symbol;Acc:MGI:1920231]|Heterozygous||T|A|25|37.0|Non-synonymous|Line Propagating
865148|IGL00556|X|167308475|M->R||Benign|MGI:2176882|Tlr7|toll-like receptor 7 [Source:MGI Symbol;Acc:MGI:2176882]|Heterozygous|The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog.|A|C|25|40.0|Non-synonymous|Line Propagating
865149|IGL00556|3|84457242|D->E|0.39|Benign|MGI:2684972|Fhdc1|FH2 domain containing 1 [Source:MGI Symbol;Acc:MGI:2684972]|Heterozygous||A|T|23|38.0|Non-synonymous|Line Propagating
865150|IGL00556|11|98155684|S->P|0.98|Probably damaging|MGI:1100846|Med1|mediator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1100846]|Heterozygous|Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5.|A|G|21|39.0|Non-synonymous|Line Propagating
865151|IGL00556|8|93045059|Y->H||Benign|MGI:3648919|Ces1a|carboxylesterase 1A [Source:MGI Symbol;Acc:MGI:3648919]|Heterozygous||A|G|21|36.0|Non-synonymous|Line Propagating
865152|IGL00556|14|73517267|M->T|0.96|Probably damaging|MGI:1914631|Med4|mediator of RNA polymerase II transcription, subunit 4 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1914631]|Heterozygous||T|C|19|37.0|Non-synonymous|Line Propagating
865153|IGL00556|15|58100080|I->T|1.0|Probably damaging|MGI:1917722|Atad2|ATPase family, AAA domain containing 2 [Source:MGI Symbol;Acc:MGI:1917722]|Heterozygous||A|G|19|40.0|Non-synonymous|Line Propagating
865154|IGL00556|10|79669512|T->S||Benign|MGI:106618|Gm16517|predicted gene, Gm16517 [Source:MGI Symbol;Acc:MGI:106618]|Heterozygous|Male mice homozygous for a gene trapped allele are sterile due to abnormal development of the spermatid flagellum. Adult males display a striking deficit in intermale aggression and reduced body fat, not due to an altered resting metabolic rate or hypophagia.|A|T|18|31.5|Non-synonymous|Line Propagating
865155|IGL00556|7|43411795|I->F|0.02|Benign|MGI:2443630|Siglecg|sialic acid binding Ig-like lectin G [Source:MGI Symbol;Acc:MGI:2443630]|Heterozygous|Mice homozygous for a null allele exhibit increased B-1 cell numbers, increased IgM levels and IgM-producing plasma cells, and produce more IgM autoantibodies.|A|T|18|38.0|Non-synonymous|Line Propagating
865156|IGL00556|14|88469471|V->E|1.0|Probably damaging|MGI:2443376|Pcdh20|protocadherin 20 [Source:MGI Symbol;Acc:MGI:2443376]|Heterozygous||A|T|16|32.0|Non-synonymous|Line Propagating
865157|IGL00556|9|71656056|R->Q|0.2|Benign|MGI:1915428|Cgnl1|cingulin-like 1 [Source:MGI Symbol;Acc:MGI:1915428]|Heterozygous||C|T|16|38.0|Non-synonymous|Line Propagating
865158|IGL00556|11|22997656|V->E|0.53|Possibly damaging|MGI:104689|Cct4|chaperonin containing Tcp1, subunit 4 (delta) [Source:MGI Symbol;Acc:MGI:104689]|Heterozygous||T|A|15|37.0|Non-synonymous|Line Propagating
865160|IGL00556|1|71353757|I->V||Benign|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|C|13|37.0|Non-synonymous|Line Propagating
865161|IGL00556|15|89100962|V->A|0.95|Possibly damaging|MGI:2146071|Tubgcp6|tubulin, gamma complex associated protein 6 [Source:MGI Symbol;Acc:MGI:2146071]|Heterozygous||A|G|13|34.0|Non-synonymous|Line Propagating
865162|IGL00556|17|73884435|Stop->R||N/A|MGI:98973|Xdh|xanthine dehydrogenase [Source:MGI Symbol;Acc:MGI:98973]|Heterozygous|Homozygous null mice are runted and die by 6 weeks of age. Heterozygous null females are unable to maintain lactation, due to a defect in milk fat droplet enveloping and secreteion.|A|T|13|38.0|Non-synonymous|Line Propagating
865163|IGL00556|2|25738581|I->F|1.0|Probably damaging|MGI:3651927|Lcn14|lipocalin 14 [Source:MGI Symbol;Acc:MGI:3651927]|Heterozygous||A|T|12|40.0|Non-synonymous|Line Propagating
865164|IGL00556|2|130784457|D->G||Benign|MGI:1923029|4930402h24rik|RIKEN cDNA 4930402H24 gene [Source:MGI Symbol;Acc:MGI:1923029]|Heterozygous||T|C|10|37.0|Non-synonymous|Line Propagating
865173|IGL00556|15|39456674|Disrupted splicing||N/A|MGI:2152972|Rims2|regulating synaptic membrane exocytosis 2 [Source:MGI Symbol;Acc:MGI:2152972]|Heterozygous|Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.|A|G|23|38.0|Splice|Line Propagating
865174|IGL00556|15|63828271|Disrupted splicing||N/A|MGI:2146102|Gsdmc2|gasdermin C2 [Source:MGI Symbol;Acc:MGI:2146102]|Heterozygous||A|G|18|38.5|Splice|Line Propagating
866392|IGL00558|1|106996380|V->A|0.97|Probably damaging|MGI:3042250|Serpinb13|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 13 [Source:MGI Symbol;Acc:MGI:3042250]|Heterozygous||T|C|34|39.0|Non-synonymous|Line Propagating
866393|IGL00558|19|9004307|D->G|0.55|Possibly damaging|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|A|G|30|38.0|Non-synonymous|Line Propagating
866394|IGL00558|4|121150973|L->H|1.0|Probably damaging|MGI:1924705|Rlf|rearranged L-myc fusion sequence [Source:MGI Symbol;Acc:MGI:1924705]|Heterozygous||A|T|30|39.0|Non-synonymous|Line Propagating
866395|IGL00558|8|21085265|Y->N|0.94|Possibly damaging|MGI:3630385|Defa25|defensin, alpha, 25 [Source:MGI Symbol;Acc:MGI:3630385]|Heterozygous||T|A|22|38.0|Non-synonymous|Line Propagating
866396|IGL00558|15|50661085|T->S|0.97|Probably damaging|MGI:1927616|Trps1|trichorhinophalangeal syndrome I (human) [Source:MGI Symbol;Acc:MGI:1927616]|Heterozygous||T|A|15|38.0|Non-synonymous|Line Propagating
866397|IGL00558|9|67937857|I->M|0.89|Possibly damaging|MGI:2444207|Vps13c|vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]|Heterozygous||A|G|15|39.0|Non-synonymous|Line Propagating
866398|IGL00558|8|93099271|T->I||N/A|MGI:95420|Ces1c|carboxylesterase 1C [Source:MGI Symbol;Acc:MGI:95420]|Heterozygous|Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin.|G|A|13|36.0|Non-synonymous|Line Propagating
866399|IGL00558|11|33552644|T->S||Benign|MGI:2387597|Gabrp|gamma-aminobutyric acid (GABA) A receptor, pi [Source:MGI Symbol;Acc:MGI:2387597]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|A|10|35.0|Non-synonymous|Line Propagating
866400|IGL00558|5|134358891|W->R|0.95|Possibly damaging|MGI:1861942|Gtf2ird1|general transcription factor II I repeat domain-containing 1 [Source:MGI Symbol;Acc:MGI:1861942]|Heterozygous|Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect . Other null allele homozygotes mice are viable and have mild behavioral defect, and exhibit a mild craniofacial defect with variable penetrance.|A|T|10|36.0|Non-synonymous|Line Propagating
866408|IGL00558|1|80288740|Disrupted splicing||N/A|MGI:1347360|Cul3|cullin 3 [Source:MGI Symbol;Acc:MGI:1347360]|Heterozygous|Homozygotes for a targeted null mutation accumulate cyclin E, exhibit abnormal cycling in cells of extraembryonic ectoderm and trophectoderm, reduced size, abnormal gastrulation and trophoblast cells, absence of an amnion, and death by embryonic day 7.5.|T|C|29|40.0|Splice|Line Propagating
866409|IGL00558|2|125329128|Disrupted splicing||N/A|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|C|A|10|34.5|Splice|Line Propagating
872063|IGL00568|13|114307870|M->K|0.27|Benign|MGI:1343135|Ndufs4|NADH dehydrogenase (ubiquinone) Fe-S protein 4 [Source:MGI Symbol;Acc:MGI:1343135]|Heterozygous|Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.|A|T|17|38.0|Non-synonymous|Line Propagating
872064|IGL00568|3|28914494|Q->K|0.64|Possibly damaging|MGI:2686373|Gm1527|predicted gene 1527 [Source:MGI Symbol;Acc:MGI:2686373]|Heterozygous||C|A|16|36.0|Non-synonymous|Line Propagating
872065|IGL00568|4|128617422|T->M|0.55|Possibly damaging|MGI:3045221|Tlr12|toll-like receptor 12 [Source:MGI Symbol;Acc:MGI:3045221]|Heterozygous||G|A|15|35.0|Non-synonymous|Line Propagating
872066|IGL00568|1|171160002|K->E|0.52|Possibly damaging|MGI:103177|Mpz|myelin protein zero [Source:MGI Symbol;Acc:MGI:103177]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit premature death, infertility, neurological behavior defects, and demyelination. Mice homozygous for a knock-out allele exhibit abnormal myelination and neurological behavior defects.|A|G|13|37.0|Non-synonymous|Line Propagating
872067|IGL00568|5|142763037|N->D|0.28|Benign|MGI:3648294|Tnrc18|trinucleotide repeat containing 18 [Source:MGI Symbol;Acc:MGI:3648294]|Heterozygous||T|C|13|39.0|Non-synonymous|Line Propagating
872068|IGL00568|13|21423253|L->Stop||N/A|MGI:2441675|Pgbd1|piggyBac transposable element derived 1 [Source:MGI Symbol;Acc:MGI:2441675]|Heterozygous||A|C|12|39.0|Non-synonymous|Line Propagating
872069|IGL00568|15|101781015|D->G|1.0|Probably damaging|MGI:2146034|Krt72-ps|keratin 72, pseudogene [Source:MGI Symbol;Acc:MGI:2146034]|Heterozygous||T|C|12|38.0|Non-synonymous|Line Propagating
872077|IGL00568|16|84822824|Disrupted splicing||N/A|MGI:1933820|Jam2|junction adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:1933820]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable spermatogenesis abnormalities or defects in embryonic, neural and hematopoietic stem cell properties.|A|G|43|40.0|Splice|Line Propagating
872078|IGL00568|6|57723485|Disrupted splicing||N/A|MGI:1919085|Lancl2|LanC (bacterial lantibiotic synthetase component C)-like 2 [Source:MGI Symbol;Acc:MGI:1919085]|Heterozygous||T|C|12|36.0|Splice|Line Propagating
872555|IGL00569|8|22158706|L->P|1.0|Probably damaging|MGI:1344371|Nek3|NIMA (never in mitosis gene a)-related expressed kinase 3 [Source:MGI Symbol;Acc:MGI:1344371]|Heterozygous||A|G|66|40.0|Non-synonymous|Line Propagating
872556|IGL00569|19|23235965|R->C|1.0|Probably damaging|MGI:2385088|Smc5|structural maintenance of chromosomes 5 [Source:MGI Symbol;Acc:MGI:2385088]|Heterozygous||G|A|47|39.0|Non-synonymous|Line Propagating
872557|IGL00569|2|60420425|T->K||Benign|MGI:102468|Pla2r1|phospholipase A2 receptor 1 [Source:MGI Symbol;Acc:MGI:102468]|Heterozygous|Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.|G|T|45|39.0|Non-synonymous|Line Propagating
872558|IGL00569|1|152571617|S->A||Benign|MGI:107484|Rgl1|ral guanine nucleotide dissociation stimulator,-like 1 [Source:MGI Symbol;Acc:MGI:107484]|Heterozygous||A|C|35|38.0|Non-synonymous|Line Propagating
872559|IGL00569|4|12061826|I->L|0.88|Possibly damaging|MGI:1923928|Tmem67|transmembrane protein 67 [Source:MGI Symbol;Acc:MGI:1923928]|Heterozygous||T|A|35|40.0|Non-synonymous|Line Propagating
872560|IGL00569|1|80585012|F->L|0.75|Possibly damaging|MGI:2146320|Dock10|dedicator of cytokinesis 10 [Source:MGI Symbol;Acc:MGI:2146320]|Heterozygous||A|G|30|40.0|Non-synonymous|Line Propagating
872561|IGL00569|9|111345511|H->N|0.44|Possibly damaging|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||C|A|30|40.0|Non-synonymous|Line Propagating
872562|IGL00569|3|96707027|P->Q|0.06|Benign|MGI:1925623|Nudt17|nudix (nucleoside diphosphate linked moiety X)-type motif 17 [Source:MGI Symbol;Acc:MGI:1925623]|Heterozygous||G|T|28|38.0|Non-synonymous|Line Propagating
872563|IGL00569|14|101887051|N->K|1.0|Probably damaging|MGI:1353586|Lmo7|LIM domain only 7 [Source:MGI Symbol;Acc:MGI:1353586]|Heterozygous|Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration.|T|G|23|38.0|Non-synonymous|Line Propagating
872564|IGL00569|2|168755312|N->S||Benign|MGI:2139360|Sall4|sal-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:2139360]|Heterozygous|Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia.|T|C|23|37.0|Non-synonymous|Line Propagating
872565|IGL00569|4|109961880|Stop->Q||N/A|MGI:109419|Faf1|Fas-associated factor 1 [Source:MGI Symbol;Acc:MGI:109419]|Heterozygous|Homozygous fail to develop beyond 2-cell stage.|T|C|21|37.0|Non-synonymous|Line Propagating
872566|IGL00569|17|34977465|T->I|1.0|Probably damaging|MGI:96231|Hspa1l|heat shock protein 1-like [Source:MGI Symbol;Acc:MGI:96231]|Heterozygous||C|T|19|37.0|Non-synonymous|Line Propagating
872567|IGL00569|8|84462714|I->N|0.96|Probably damaging|MGI:109482|Cacna1a|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482]|Heterozygous|Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.|T|A|19|40.0|Non-synonymous|Line Propagating
872568|IGL00569|7|3914589|S->P|0.99|Probably damaging|MGI:1195969|Lilra6|leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 [Source:MGI Symbol;Acc:MGI:1195969]|Heterozygous||A|G|18|40.0|Non-synonymous|Line Propagating
872569|IGL00569|10|19935044|T->A|0.62|Possibly damaging|MGI:1346876|Map3k5|mitogen-activated protein kinase kinase kinase 5 [Source:MGI Symbol;Acc:MGI:1346876]|Heterozygous|Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage.|A|G|17|35.0|Non-synonymous|Line Propagating
872570|IGL00569|2|163628001|P->Q|0.01|Benign|MGI:1349457|Serinc3|serine incorporator 3 [Source:MGI Symbol;Acc:MGI:1349457]|Heterozygous||G|T|17|38.0|Non-synonymous|Line Propagating
872571|IGL00569|11|110187049|N->H|0.66|Possibly damaging|MGI:1923434|Abca6|ATP-binding cassette, sub-family A (ABC1), member 6 [Source:MGI Symbol;Acc:MGI:1923434]|Heterozygous||T|G|16|39.0|Non-synonymous|Line Propagating
872573|IGL00569|17|57023092|T->A|0.95|Possibly damaging|MGI:1336214|Khsrp|KH-type splicing regulatory protein [Source:MGI Symbol;Acc:MGI:1336214]|Heterozygous||T|C|14|35.5|Non-synonymous|Line Propagating
872574|IGL00569|8|119626331|V->A|0.51|Possibly damaging|MGI:1913983|Kcng4|potassium voltage-gated channel, subfamily G, member 4 [Source:MGI Symbol;Acc:MGI:1913983]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
872575|IGL00569|17|78869483|S->T||Benign|MGI:1353449|Eif2ak2|eukaryotic translation initiation factor 2-alpha kinase 2 [Source:MGI Symbol;Acc:MGI:1353449]|Heterozygous|Mice homozygous for disruptions in this gene display altered susceptibility to viral infection.|A|T|12|38.5|Non-synonymous|Line Propagating
872576|IGL00569|19|24267350|I->N|1.0|Probably damaging|MGI:1096879|Fxn|frataxin [Source:MGI Symbol;Acc:MGI:1096879]|Heterozygous|Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively.|A|T|11|35.0|Non-synonymous|Line Propagating
872577|IGL00569|19|33168488|E->V||Benign|MGI:1915045|Rnls|renalase, FAD-dependent amine oxidase [Source:MGI Symbol;Acc:MGI:1915045]|Heterozygous||T|A|10|36.5|Non-synonymous|Line Propagating
872580|IGL00569|17|28560662|Disrupted splicing||N/A|MGI:88421|Clps|colipase, pancreatic [Source:MGI Symbol;Acc:MGI:88421]|Heterozygous|Homozygous mutation of this gene results in increased mortality before weaning. Surviving mutants are growth retarded and remain smaller than wild-type into adulthood with decreased body fat, impaired fat absorption, elevated cholesterol, and reduced triglycerides.|T|A|30|37.5|Splice|Line Propagating
872581|IGL00569|5|103591006|Disrupted splicing||N/A|MGI:103293|Ptpn13|protein tyrosine phosphatase, non-receptor type 13 [Source:MGI Symbol;Acc:MGI:103293]|Heterozygous|Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.|A|G|17|38.0|Splice|Line Propagating
872582|IGL00569|18|71384225|Disrupted splicing||N/A|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|T|A|10|40.5|Splice|Line Propagating
872583|IGL00569|8|23098052|Disrupted splicing||N/A|MGI:88024|Ank1|ankyrin 1, erythroid [Source:MGI Symbol;Acc:MGI:88024]|Heterozygous|Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.|T|C|10|35.0|Splice|Line Propagating
873680|IGL00571|11|51736504|Q->Stop||N/A|MGI:1924621|Sec24a|Sec24 related gene family, member A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1924621]|Heterozygous||G|A|76|35.0|Non-synonymous|Line Propagating
873681|IGL00571|5|149188360|K->E|0.01|Benign|MGI:2442342|Uspl1|ubiquitin specific peptidase like 1 [Source:MGI Symbol;Acc:MGI:2442342]|Heterozygous||A|G|46|40.5|Non-synonymous|Line Propagating
873682|IGL00571|2|130995048|R->L|1.0|Probably damaging|MGI:1341628|Atrn|attractin [Source:MGI Symbol;Acc:MGI:1341628]|Heterozygous|Some mutant homozygotes exhibit decreases in pheomelanin synthesis, body weight, and adiposity; increases in locomotion, and abnormal myelination and vacuolation of the central nervous system resulting in tremors.|G|T|43|40.0|Non-synonymous|Line Propagating
873683|IGL00571|1|97087951|N->D|0.01|Benign|MGI:1921691|Slco6c1|solute carrier organic anion transporter family, member 6c1 [Source:MGI Symbol;Acc:MGI:1921691]|Heterozygous||T|C|40|39.0|Non-synonymous|Line Propagating
873684|IGL00571|5|105217430|I->L|0.96|Probably damaging|MGI:4359647|Gbp10|guanylate-binding protein 10 [Source:MGI Symbol;Acc:MGI:4359647]|Heterozygous||T|G|25|38.0|Non-synonymous|Line Propagating
873685|IGL00571|15|5217328|D->G|1.0|Probably damaging|MGI:1914765|Ttc33|tetratricopeptide repeat domain 33 [Source:MGI Symbol;Acc:MGI:1914765]|Heterozygous||A|G|21|36.0|Non-synonymous|Line Propagating
873686|IGL00571|17|43628160|I->F|0.71|Possibly damaging|MGI:2679727|Tdrd6|tudor domain containing 6 [Source:MGI Symbol;Acc:MGI:2679727]|Heterozygous||T|A|21|38.0|Non-synonymous|Line Propagating
873687|IGL00571|2|26089690|T->A|0.15|Benign|MGI:1915241|Nacc2|nucleus accumbens associated 2, BEN and BTB (POZ) domain containing [Source:MGI Symbol;Acc:MGI:1915241]|Heterozygous||T|C|21|34.0|Non-synonymous|Line Propagating
873688|IGL00571|5|64926434|I->V|0.2|Benign|MGI:1341295|Tlr1|toll-like receptor 1 [Source:MGI Symbol;Acc:MGI:1341295]|Heterozygous|Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production.|T|C|21|40.0|Non-synonymous|Line Propagating
873689|IGL00571|1|150638999|V->I|0.08|Benign|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||C|T|19|40.0|Non-synonymous|Line Propagating
873690|IGL00571|11|76468740|S->R|0.27|Benign|MGI:107771|Abr|active BCR-related gene [Source:MGI Symbol;Acc:MGI:107771]|Heterozygous|Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.|T|G|17|39.0|Non-synonymous|Line Propagating
873691|IGL00571|19|34318618|T->S|0.82|Possibly damaging|MGI:95484|Fas|Fas (TNF receptor superfamily member 6) [Source:MGI Symbol;Acc:MGI:95484]|Heterozygous|Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease.|A|T|17|39.0|Non-synonymous|Line Propagating
873692|IGL00571|3|32519919|D->G|0.29|Benign|MGI:1915028|Zfp639|zinc finger protein 639 [Source:MGI Symbol;Acc:MGI:1915028]|Heterozygous||A|G|17|40.0|Non-synonymous|Line Propagating
873693|IGL00571|16|21968140|F->S|1.0|Probably damaging|MGI:2388029|Liph|lipase, member H [Source:MGI Symbol;Acc:MGI:2388029]|Heterozygous||A|G|15|41.0|Non-synonymous|Line Propagating
873694|IGL00571|10|105321446|I->T||Benign|MGI:1914057|Tmtc2|transmembrane and tetratricopeptide repeat containing 2 [Source:MGI Symbol;Acc:MGI:1914057]|Heterozygous||A|G|14|40.0|Non-synonymous|Line Propagating
873695|IGL00571|14|56647353|S->R|0.95|Possibly damaging|MGI:2685589|Parp4|poly (ADP-ribose) polymerase family, member 4 [Source:MGI Symbol;Acc:MGI:2685589]|Heterozygous||T|A|13|35.0|Non-synonymous|Line Propagating
873696|IGL00571|9|98903686|T->P|1.0|Probably damaging|MGI:3588253|7420426k07rik|RIKEN cDNA 7420426K07 gene [Source:MGI Symbol;Acc:MGI:3588253]|Heterozygous||A|C|13|35.0|Non-synonymous|Line Propagating
873697|IGL00571|13|112487860|V->M|0.91|Possibly damaging|MGI:96560|Il6st|interleukin 6 signal transducer [Source:MGI Symbol;Acc:MGI:96560]|Heterozygous|Homozygotes for targeted null mutations show myocardial and hematological defects and die between embryonic day 12.5 and term. Conditional mutants show female infertility and neurological, cardiac, hematopoietic, immunological, hepatic, and lung defects.|G|A|12|39.5|Non-synonymous|Line Propagating
873698|IGL00571|16|95712141|N->K|1.0|Probably damaging|MGI:95456|Ets2|E26 avian leukemia oncogene 2, 3' domain [Source:MGI Symbol;Acc:MGI:95456]|Heterozygous|Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size.|C|A|12|36.5|Non-synonymous|Line Propagating
873699|IGL00571|14|64746417|V->M|0.66|Possibly damaging|MGI:1098265|Kif13b|kinesin family member 13B [Source:MGI Symbol;Acc:MGI:1098265]|Heterozygous||G|A|10|39.0|Non-synonymous|Line Propagating
880379|IGL00583|11|84877888|V->A|0.02|Benign|MGI:1917575|Pigw|phosphatidylinositol glycan anchor biosynthesis, class W [Source:MGI Symbol;Acc:MGI:1917575]|Heterozygous||A|G|32|39.0|Non-synonymous|Line Propagating
880380|IGL00583|3|58637043|E->G||Unknown|MGI:3588212|Fam194a|family with sequence similarity 194, member A [Source:MGI Symbol;Acc:MGI:3588212]|Heterozygous||T|C|30|37.0|Non-synonymous|Line Propagating
880381|IGL00583|16|45397109|I->R|0.68|Possibly damaging|MGI:1196990|Cd200|CD200 antigen [Source:MGI Symbol;Acc:MGI:1196990]|Heterozygous|Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease.|A|C|25|40.0|Non-synonymous|Line Propagating
880382|IGL00583|13|104297218|Q->Stop||N/A|MGI:1347348|Adamts6|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6 [Source:MGI Symbol;Acc:MGI:1347348]|Heterozygous||C|T|24|40.0|Non-synonymous|Line Propagating
880383|IGL00583|4|99034840|T->A|0.98|Probably damaging|MGI:1353627, MGI:1914549|Angptl3,dock7|dedicator of cytokinesis 7 [Source:MGI Symbol;Acc:MGI:1914549],angiopoietin-like 3 [Source:MGI Symbol;Acc:MGI:1353627]|Heterozygous|Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot.,Mice homozygous for a disruption in this gene display decreased plasma cholesterol and triglyceride levels. A spontaneous mutation results in a similar phenotype except that there is also a reduction in fat pad weight and decreased free fatty acid levels.|A|G|24|40.0|Non-synonymous|Line Propagating
880384|IGL00583|10|11188020|T->I|0.43|Benign|MGI:1917581|Shprh|SNF2 histone linker PHD RING helicase [Source:MGI Symbol;Acc:MGI:1917581]|Heterozygous||C|T|23|39.0|Non-synonymous|Line Propagating
880385|IGL00583|10|128204882|M->V|0.9|Possibly damaging|MGI:2143539|Gls2|glutaminase 2 (liver, mitochondrial) [Source:MGI Symbol;Acc:MGI:2143539]|Heterozygous||A|G|20|37.0|Non-synonymous|Line Propagating
880386|IGL00583|5|66953679|I->T||Benign|MGI:1924819|Limch1|LIM and calponin homology domains 1 [Source:MGI Symbol;Acc:MGI:1924819]|Heterozygous||T|C|20|40.0|Non-synonymous|Line Propagating
880387|IGL00583|16|3716072|K->Stop||N/A|MGI:1859396|Mefv|Mediterranean fever [Source:MGI Symbol;Acc:MGI:1859396]|Heterozygous|Homozygous null mice develop normally but show increased susceptibilty to infection.|T|A|19|40.0|Non-synonymous|Line Propagating
880388|IGL00583|5|140761018|V->E|1.0|Probably damaging|MGI:95767|Gna12|guanine nucleotide binding protein, alpha 12 [Source:MGI Symbol;Acc:MGI:95767]|Heterozygous|Mice deficient for this gene do not exhibit any detectable abnormalities.|A|T|16|32.5|Non-synonymous|Line Propagating
880389|IGL00583|8|64205292|L->P||Benign|MGI:106923|Tll1|tolloid-like [Source:MGI Symbol;Acc:MGI:106923]|Heterozygous|Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.|A|G|15|36.0|Non-synonymous|Line Propagating
880390|IGL00583|8|70145107|H->R||Benign|MGI:1919618|2310045n01rik|RIKEN cDNA 2310045N01 gene [Source:MGI Symbol;Acc:MGI:1919618]|Heterozygous||A|G|15|37.0|Non-synonymous|Line Propagating
880392|IGL00583|5|120794272|E->V|1.0|Probably damaging|MGI:2180856|Oas1e|2'-5' oligoadenylate synthetase 1E [Source:MGI Symbol;Acc:MGI:2180856]|Heterozygous||T|A|14|38.0|Non-synonymous|Line Propagating
880393|IGL00583|1|180168389|D->G|0.04|Benign|MGI:1914676|Adck3|aarF domain containing kinase 3 [Source:MGI Symbol;Acc:MGI:1914676]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
880394|IGL00583|17|12841965|I->M|0.68|Possibly damaging|MGI:96918|Mas1|MAS1 oncogene [Source:MGI Symbol;Acc:MGI:96918]|Heterozygous|Mice homozygous for disruptions in this gene show enhanced long term potentiation and higher levels of anxiety. They are otherwise normal and fertile.|T|C|13|38.0|Non-synonymous|Line Propagating
880395|IGL00583|18|61257268|C->R|0.64|Possibly damaging|MGI:97524|Pde6a|phosphodiesterase 6A, cGMP-specific, rod, alpha [Source:MGI Symbol;Acc:MGI:97524]|Heterozygous|Homozygous mutant mice have retinal degeneration.|T|C|12|34.5|Non-synonymous|Line Propagating
880396|IGL00583|4|63154018|A->D|0.77|Possibly damaging|MGI:88002|Ambp|alpha 1 microglobulin/bikunin [Source:MGI Symbol;Acc:MGI:88002]|Heterozygous|Female homozygotes for targeted null mutations exhibit reduced ovulation rates, oocytes lacking a zona pellucida, and a very low fertilization rate.|G|T|12|34.5|Non-synonymous|Line Propagating
880397|IGL00583|8|12621906|Q->Stop||N/A|MGI:2183752|Tubgcp3|tubulin, gamma complex associated protein 3 [Source:MGI Symbol;Acc:MGI:2183752]|Heterozygous||G|A|11|37.0|Non-synonymous|Line Propagating
880398|IGL00583|9|95461524|T->S||Unknown|MGI:1915208|2610101n10rik|RIKEN cDNA 2610101N10 gene [Source:MGI Symbol;Acc:MGI:1915208]|Heterozygous||T|A|11|39.0|Non-synonymous|Line Propagating
880404|IGL00583|6|108855559|Disrupted splicing||N/A|MGI:2180139|Edem1|ER degradation enhancer, mannosidase alpha-like 1 [Source:MGI Symbol;Acc:MGI:2180139]|Heterozygous||T|A|20|40.0|Splice|Line Propagating
880405|IGL00583|17|44085197|Disrupted splicing||N/A|MGI:1933830|Enpp5|ectonucleotide pyrophosphatase/phosphodiesterase 5 [Source:MGI Symbol;Acc:MGI:1933830]|Heterozygous||C|T|16|40.0|Splice|Line Propagating
880406|IGL00583|1|58401335|Disrupted splicing||N/A|MGI:1914132|Bzw1|basic leucine zipper and W2 domains 1 [Source:MGI Symbol;Acc:MGI:1914132]|Heterozygous||T|C|14|39.0|Splice|Line Propagating
880407|IGL00583|16|29275453|Disrupted splicing||N/A|MGI:2444068|Atp13a5|ATPase type 13A5 [Source:MGI Symbol;Acc:MGI:2444068]|Heterozygous||A|T|12|38.5|Splice|Line Propagating
881547|IGL00585|2|144271989|P->S||Benign|MGI:1921778|8430406i07rik|RIKEN cDNA 8430406I07 gene [Source:MGI Symbol;Acc:MGI:1921778]|Heterozygous||C|T|69|38.0|Non-synonymous|Line Propagating
881548|IGL00585|19|3490826|C->R|1.0|Probably damaging|MGI:1921807|Ppp6r3|protein phosphatase 6, regulatory subunit 3 [Source:MGI Symbol;Acc:MGI:1921807]|Heterozygous||A|G|59|40.0|Non-synonymous|Line Propagating
881550|IGL00585|9|54338464|I->N|1.0|Probably damaging|MGI:2388361|Gldn|gliomedin [Source:MGI Symbol;Acc:MGI:2388361]|Heterozygous||T|A|27|40.0|Non-synonymous|Line Propagating
881551|IGL00585|11|94479117|L->F|1.0|Probably damaging|MGI:2183449|Spata20|spermatogenesis associated 20 [Source:MGI Symbol;Acc:MGI:2183449]|Heterozygous||T|G|24|39.0|Non-synonymous|Line Propagating
881552|IGL00585|14|60779993|F->S|1.0|Probably damaging|MGI:3045252|C1qtnf9|C1q and tumor necrosis factor related protein 9 [Source:MGI Symbol;Acc:MGI:3045252]|Heterozygous||T|C|22|38.0|Non-synonymous|Line Propagating
881553|IGL00585|18|12757626|E->V|0.66|Possibly damaging|MGI:1927551|Osbpl1a|oxysterol binding protein-like 1A [Source:MGI Symbol;Acc:MGI:1927551]|Heterozygous||T|A|21|37.0|Non-synonymous|Line Propagating
881554|IGL00585|17|13884628|T->A|0.99|Probably damaging|MGI:1314653|Mllt4|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 [Source:MGI Symbol;Acc:MGI:1314653]|Heterozygous|Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds.|A|G|20|38.5|Non-synonymous|Line Propagating
881555|IGL00585|15|78284847|G->S|0.14|Benign|MGI:1339760|Csf2rb2|colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) [Source:MGI Symbol;Acc:MGI:1339760]|Heterozygous|Homozygotes for a targeted null mutation are apparently normal.|C|T|19|38.0|Non-synonymous|Line Propagating
881556|IGL00585|4|34752322|E->V|0.99|Probably damaging|MGI:2684982|Gm136|predicted gene 136 [Source:MGI Symbol;Acc:MGI:2684982]|Heterozygous||T|A|19|37.0|Non-synonymous|Line Propagating
881558|IGL00585|14|20573837|S->C|1.0|Probably damaging|MGI:1926037|Usp54|ubiquitin specific peptidase 54 [Source:MGI Symbol;Acc:MGI:1926037]|Heterozygous||T|A|18|41.0|Non-synonymous|Line Propagating
881559|IGL00585|7|3366031|Y->C|0.87|Possibly damaging|MGI:1932374|Cacng7|calcium channel, voltage-dependent, gamma subunit 7 [Source:MGI Symbol;Acc:MGI:1932374]|Heterozygous||A|G|18|33.0|Non-synonymous|Line Propagating
881560|IGL00585|9|111349290|F->L|0.99|Probably damaging|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|C|18|40.5|Non-synonymous|Line Propagating
881561|IGL00585|1|130719133|G->E|1.0|Probably damaging|MGI:2442596|Yod1|YOD1 OTU deubiquitinating enzyme 1 homologue (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2442596]|Heterozygous||G|A|17|38.0|Non-synonymous|Line Propagating
881562|IGL00585|19|44078312|H->R|0.81|Possibly damaging|MGI:99484|Chuk|conserved helix-loop-helix ubiquitous kinase [Source:MGI Symbol;Acc:MGI:99484]|Heterozygous|Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.|T|C|16|35.0|Non-synonymous|Line Propagating
881563|IGL00585|4|149638312|H->L|0.04|Benign|MGI:1929895|Clstn1|calsyntenin 1 [Source:MGI Symbol;Acc:MGI:1929895]|Heterozygous||A|T|16|39.0|Non-synonymous|Line Propagating
881564|IGL00585|7|79916076|E->G||Benign|MGI:1337060|Ap3s2|adaptor-related protein complex 3, sigma 2 subunit [Source:MGI Symbol;Acc:MGI:1337060]|Heterozygous||T|C|16|40.0|Non-synonymous|Line Propagating
881565|IGL00585|9|44281623|M->K|0.66|Possibly damaging|MGI:1890594|Abcg4|ATP-binding cassette, sub-family G (WHITE), member 4 [Source:MGI Symbol;Acc:MGI:1890594]|Heterozygous||A|T|16|34.0|Non-synonymous|Line Propagating
881566|IGL00585|1|180855818|C->S||Benign|MGI:2384788|Bc031781|cDNA sequence BC031781 [Source:MGI Symbol;Acc:MGI:2384788]|Heterozygous||T|A|14|38.5|Non-synonymous|Line Propagating
881567|IGL00585|13|61037127|D->E||Benign|MGI:2137385|Ctsq|cathepsin Q [Source:MGI Symbol;Acc:MGI:2137385]|Heterozygous||A|T|14|40.0|Non-synonymous|Line Propagating
881568|IGL00585|19|5153698|V->E|1.0|Probably damaging|MGI:1277113|Pacs1|phosphofurin acidic cluster sorting protein 1 [Source:MGI Symbol;Acc:MGI:1277113]|Heterozygous||A|T|14|35.5|Non-synonymous|Line Propagating
881569|IGL00585|5|110755905|I->K||Unknown|MGI:1276124|Ep400|E1A binding protein p400 [Source:MGI Symbol;Acc:MGI:1276124]|Heterozygous|Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube.|A|T|14|38.0|Non-synonymous|Line Propagating
881570|IGL00585|8|123909994|A->V|1.0|Probably damaging|MGI:2442620|Nup133|nucleoporin 133 [Source:MGI Symbol;Acc:MGI:2442620]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development.|G|A|14|38.5|Non-synonymous|Line Propagating
881571|IGL00585|17|24300320|I->F|0.95|Possibly damaging|MGI:3625331|Abca17|ATP-binding cassette, sub-family A (ABC1), member 17 [Source:MGI Symbol;Acc:MGI:3625331]|Heterozygous||T|A|13|36.0|Non-synonymous|Line Propagating
881572|IGL00585|18|44864361|Y->C|1.0|Probably damaging|MGI:2448561|Ythdc2|YTH domain containing 2 [Source:MGI Symbol;Acc:MGI:2448561]|Heterozygous||A|G|13|38.0|Non-synonymous|Line Propagating
881573|IGL00585|19|46062648|S->P||Unknown|MGI:2385096|Pprc1|peroxisome proliferative activated receptor, gamma, coactivator-related 1 [Source:MGI Symbol;Acc:MGI:2385096]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
881574|IGL00585|7|4507550|M->R|0.86|Possibly damaging|MGI:1333868|Tnnt1|troponin T1, skeletal, slow [Source:MGI Symbol;Acc:MGI:1333868]|Heterozygous||A|C|13|36.0|Non-synonymous|Line Propagating
881577|IGL00585|2|33246227|S->P|0.97|Probably damaging|MGI:1347002, MGI:1922008|Angptl2,ralgps1|angiopoietin-like 2 [Source:MGI Symbol;Acc:MGI:1347002],Ral GEF with PH domain and SH3 binding motif 1 [Source:MGI Symbol;Acc:MGI:1922008]|Heterozygous|NO_PHENOTYPE,When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls.|T|C|12|34.0|Non-synonymous|Line Propagating
881578|IGL00585|2|91619825|L->F|1.0|Probably damaging|MGI:1923036|Ckap5|cytoskeleton associated protein 5 [Source:MGI Symbol;Acc:MGI:1923036]|Heterozygous||C|T|12|37.5|Non-synonymous|Line Propagating
881579|IGL00585|3|96000066|Stop->R||N/A|MGI:891965|Vps45|vacuolar protein sorting 45 (yeast) [Source:MGI Symbol;Acc:MGI:891965]|Heterozygous||A|G|11|38.0|Non-synonymous|Line Propagating
881580|IGL00585|7|27326733|D->G|0.94|Possibly damaging|MGI:1321395|Ltbp4|latent transforming growth factor beta binding protein 4 [Source:MGI Symbol;Acc:MGI:1321395]|Heterozygous|Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer.|T|C|11|35.0|Non-synonymous|Line Propagating
881581|IGL00585|8|11454212|Y->H|1.0|Probably damaging|MGI:102789|Rab20|RAB20, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:102789]|Heterozygous||A|G|11|39.0|Non-synonymous|Line Propagating
881583|IGL00585|18|65749640|M->K|0.04|Benign|MGI:2442915|5330437i02rik|RIKEN cDNA 5330437I02 gene [Source:MGI Symbol;Acc:MGI:2442915]|Heterozygous||T|A|10|41.0|Non-synonymous|Line Propagating
881584|IGL00585|7|43637011|V->M|0.9|Possibly damaging|MGI:1919681|Ceacam18|carcinoembryonic antigen-related cell adhesion molecule 18 [Source:MGI Symbol;Acc:MGI:1919681]|Heterozygous||G|A|10|37.0|Non-synonymous|Line Propagating
881594|IGL00585|1|52082579|Disrupted splicing||N/A|MGI:103062|Stat4|signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]|Heterozygous||T|C|84|40.0|Splice|Line Propagating
881595|IGL00585|13|100480998|Disrupted splicing||N/A|MGI:1345669|Gtf2h2|general transcription factor II H, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1345669]|Heterozygous||A|G|29|40.0|Splice|Line Propagating
881596|IGL00585|3|133100809|Disrupted splicing||N/A|MGI:1919043|Ints12|integrator complex subunit 12 [Source:MGI Symbol;Acc:MGI:1919043]|Heterozygous||T|C|29|38.0|Splice|Line Propagating
881597|IGL00585|13|99246572|Disrupted splicing||N/A|MGI:2178429|Zfp366|zinc finger protein 366 [Source:MGI Symbol;Acc:MGI:2178429]|Heterozygous||G|A|25|37.0|Splice|Line Propagating
881598|IGL00585|8|104526278|Disrupted splicing||N/A|MGI:2384561|Nae1|NEDD8 activating enzyme E1 subunit 1 [Source:MGI Symbol;Acc:MGI:2384561]|Heterozygous||A|G|23|39.0|Splice|Line Propagating
881600|IGL00585|18|30303078|Disrupted splicing||N/A|MGI:2445019|Pik3c3|phosphoinositide-3-kinase, class 3 [Source:MGI Symbol;Acc:MGI:2445019]|Heterozygous|Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation.|T|G|18|39.5|Splice|Line Propagating
881601|IGL00585|19|46284249|Disrupted splicing||N/A|MGI:1861607|Gbf1|golgi-specific brefeldin A-resistance factor 1 [Source:MGI Symbol;Acc:MGI:1861607]|Heterozygous||G|A|16|37.0|Splice|Line Propagating
881602|IGL00585|2|29073883|Disrupted splicing||N/A|MGI:105044|Ttf1|transcription termination factor, RNA polymerase I [Source:MGI Symbol;Acc:MGI:105044]|Heterozygous||T|C|16|41.0|Splice|Line Propagating
882804|IGL00587|17|21508338|V->A||Benign|MGI:99200|Zfp53|zinc finger protein 53 [Source:MGI Symbol;Acc:MGI:99200]|Heterozygous|Homozygous disruption of this locus results in pigmentation abnormalities.|T|C|27|40.0|Non-synonymous|Line Propagating
882805|IGL00587|13|47068540|V->A|0.01|Benign|MGI:2145261|Kdm1b|lysine (K)-specific demethylase 1B [Source:MGI Symbol;Acc:MGI:2145261]|Heterozygous|Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5.|T|C|25|38.0|Non-synonymous|Line Propagating
882806|IGL00587|3|83030289|S->C|0.92|Possibly damaging|MGI:1316726|Fga|fibrinogen alpha chain [Source:MGI Symbol;Acc:MGI:1316726]|Heterozygous|Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging.|A|T|25|36.0|Non-synonymous|Line Propagating
882807|IGL00587|15|97245446|M->R|0.71|Possibly damaging|MGI:2145995|Amigo2|adhesion molecule with Ig like domain 2 [Source:MGI Symbol;Acc:MGI:2145995]|Heterozygous||A|C|22|37.5|Non-synonymous|Line Propagating
882808|IGL00587|14|56903360|S->A|0.76|Possibly damaging|MGI:1923257|Zmym2|zinc finger, MYM-type 2 [Source:MGI Symbol;Acc:MGI:1923257]|Heterozygous||T|G|20|39.0|Non-synonymous|Line Propagating
882809|IGL00587|5|52816169|S->T|0.01|Benign|MGI:1926046|Zcchc4|zinc finger, CCHC domain containing 4 [Source:MGI Symbol;Acc:MGI:1926046]|Heterozygous||T|A|19|39.0|Non-synonymous|Line Propagating
882810|IGL00587|1|106030263|S->R|0.27|Benign|MGI:2444114|Zcchc2|zinc finger, CCHC domain containing 2 [Source:MGI Symbol;Acc:MGI:2444114]|Heterozygous||T|A|18|37.0|Non-synonymous|Line Propagating
882811|IGL00587|1|195154251|R->Q|0.75|Possibly damaging|MGI:88489|Cr2|complement receptor 2 [Source:MGI Symbol;Acc:MGI:88489]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation.|C|T|18|37.0|Non-synonymous|Line Propagating
882812|IGL00587|3|37320197|T->A|1.0|Probably damaging|MGI:2686651|Bbs12|Bardet-Biedl syndrome 12 (human) [Source:MGI Symbol;Acc:MGI:2686651]|Heterozygous||A|G|18|38.5|Non-synonymous|Line Propagating
882813|IGL00587|2|140243944|L->F|1.0|Probably damaging|MGI:2684964|Sel1l2|sel-1 suppressor of lin-12-like 2 (C. elegans) [Source:MGI Symbol;Acc:MGI:2684964]|Heterozygous||G|A|17|35.0|Non-synonymous|Line Propagating
882814|IGL00587|17|35897883|D->G|0.17|Benign|MGI:1913869|Atat1|alpha tubulin acetyltransferase 1 [Source:MGI Symbol;Acc:MGI:1913869]|Heterozygous||T|C|15|36.0|Non-synonymous|Line Propagating
882815|IGL00587|15|82455143|S->P|0.07|Benign|MGI:88606|Cyp2d9|cytochrome P450, family 2, subfamily d, polypeptide 9 [Source:MGI Symbol;Acc:MGI:88606]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
882816|IGL00587|11|96913399|S->P|1.0|Probably damaging|MGI:1933126|Cdk5rap3|CDK5 regulatory subunit associated protein 3 [Source:MGI Symbol;Acc:MGI:1933126]|Heterozygous||A|G|12|39.0|Non-synonymous|Line Propagating
882817|IGL00587|18|20539654|I->N|0.99|Probably damaging|MGI:99499|Dsg3|desmoglein 3 [Source:MGI Symbol;Acc:MGI:99499]|Heterozygous|Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life.|T|A|11|35.0|Non-synonymous|Line Propagating
882818|IGL00587|18|46560813|E->G|0.68|Possibly damaging|MGI:3040056|Ticam2|toll-like receptor adaptor molecule 2 [Source:MGI Symbol;Acc:MGI:3040056]|Heterozygous||T|C|11|37.0|Non-synonymous|Line Propagating
882819|IGL00587|5|27772552|S->P||Unknown|MGI:1890430|Paxip1|PAX interacting (with transcription-activation domain) protein 1 [Source:MGI Symbol;Acc:MGI:1890430]|Heterozygous|Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5.|A|G|11|38.0|Non-synonymous|Line Propagating
882820|IGL00587|5|41703456|R->G|0.91|Possibly damaging|MGI:1917285|Rab28|RAB28, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1917285]|Heterozygous||T|C|11|41.0|Non-synonymous|Line Propagating
882821|IGL00587|7|107181767|V->E||Benign|MGI:1924108|Nlrp14|NLR family, pyrin domain containing 14 [Source:MGI Symbol;Acc:MGI:1924108]|Heterozygous||T|A|11|39.0|Non-synonymous|Line Propagating
882822|IGL00587|8|60671909|V->A|0.06|Benign|MGI:1918556|Mfap3l|microfibrillar-associated protein 3-like [Source:MGI Symbol;Acc:MGI:1918556]|Heterozygous||T|C|11|38.0|Non-synonymous|Line Propagating
882823|IGL00587|13|115012249|V->L|1.0|Probably damaging|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|C|A|10|36.5|Non-synonymous|Line Propagating
882824|IGL00587|3|59217882|I->K|1.0|Probably damaging|MGI:1918089|P2ry12|purinergic receptor P2Y, G-protein coupled 12 [Source:MGI Symbol;Acc:MGI:1918089]|Heterozygous|Homozygous mutation of this gene results in impaired platelet activation, increased bleeding time and delayed thrombus formation in injured arteries.|A|T|10|39.0|Non-synonymous|Line Propagating
882825|IGL00587|3|98147199|S->R|1.0|Probably damaging|MGI:97364|Notch2|Notch gene homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:97364]|Heterozygous||A|C|10|37.0|Non-synonymous|Line Propagating
882836|IGL00587|16|15652358|Disrupted splicing||N/A|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|C|35|37.0|Splice|Line Propagating
882837|IGL00587|1|186721548|Disrupted splicing||N/A|MGI:1914473|Rrp15|ribosomal RNA processing 15 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914473]|Heterozygous||T|C|22|40.0|Splice|Line Propagating
882838|IGL00587|2|156052950|Disrupted splicing||N/A|MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||T|C|10|36.0|Splice|Line Propagating
883968|IGL00589|5|144012895|T->A|0.99|Probably damaging|MGI:2141070|Ccz1|CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2141070]|Heterozygous||T|C|125|39.0|Non-synonymous|Line Propagating
883969|IGL00589|2|121440280|D->E|0.11|Benign|MGI:2673679|Ell3|elongation factor RNA polymerase II-like 3 [Source:MGI Symbol;Acc:MGI:2673679]|Heterozygous||A|T|57|39.0|Non-synonymous|Line Propagating
883970|IGL00589|5|65656344|D->G|1.0|Probably damaging|MGI:1918771|Pds5a|PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918771]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development.|T|C|34|39.0|Non-synonymous|Line Propagating
883971|IGL00589|6|71509083|Y->H|0.92|Possibly damaging|MGI:109483|Rnf103|ring finger protein 103 [Source:MGI Symbol;Acc:MGI:109483]|Heterozygous|Mice homozygous for a knock-out allele display significantly increased anxiety-like behavior under stressful conditions as well as increased prepulse inhibition and a reduced startle amplitude with no detectable changes in exploratory locomotion or behavioral despair.|T|C|31|39.0|Non-synonymous|Line Propagating
883972|IGL00589|2|127763849|I->T|1.0|Probably damaging|MGI:1858233|Nphp1|nephronophthisis 1 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1858233]|Heterozygous|Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor degeneration.|A|G|28|38.5|Non-synonymous|Line Propagating
883973|IGL00589|15|64787367|F->I|1.0|Probably damaging|MGI:1341110|Adcy8|adenylate cyclase 8 [Source:MGI Symbol;Acc:MGI:1341110]|Heterozygous|Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).|A|T|26|37.5|Non-synonymous|Line Propagating
883974|IGL00589|11|73354043|C->S|1.0|Probably damaging|MGI:109315|Olfr20|olfactory receptor 20 [Source:MGI Symbol;Acc:MGI:109315]|Heterozygous||T|A|23|37.0|Non-synonymous|Line Propagating
883975|IGL00589|9|78578534|I->V||Benign|MGI:1924105|Slc17a5|solute carrier family 17 (anion/sugar transporter), member 5 [Source:MGI Symbol;Acc:MGI:1924105]|Heterozygous|Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response.|T|C|20|38.5|Non-synonymous|Line Propagating
883977|IGL00589|8|47544184|E->V|1.0|Probably damaging|MGI:2681000|Rwdd4a|RWD domain containing 4A [Source:MGI Symbol;Acc:MGI:2681000]|Heterozygous||A|T|19|34.0|Non-synonymous|Line Propagating
883978|IGL00589|14|79038195|L->Q|0.99|Probably damaging|MGI:1919008|1300010f03rik|RIKEN cDNA 1300010F03 gene [Source:MGI Symbol;Acc:MGI:1919008]|Heterozygous||T|A|18|38.0|Non-synonymous|Line Propagating
883979|IGL00589|9|107658677|L->F|1.0|Probably damaging|MGI:1923507|Slc38a3|solute carrier family 38, member 3 [Source:MGI Symbol;Acc:MGI:1923507]|Heterozygous||G|A|17|38.0|Non-synonymous|Line Propagating
883980|IGL00589|7|78916584|D->N|1.0|Probably damaging|MGI:1928895|Isg20|interferon-stimulated protein [Source:MGI Symbol;Acc:MGI:1928895]|Heterozygous||G|A|16|40.0|Non-synonymous|Line Propagating
883981|IGL00589|19|11254559|T->S||Benign|MGI:88321|Ms4a1|membrane-spanning 4-domains, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:88321]|Heterozygous|Homozygous inactivation of this locus affects B cell physiology but does not impair B cell development or overall immune function.|T|A|15|36.0|Non-synonymous|Line Propagating
883982|IGL00589|12|35504097|Y->Stop||N/A|MGI:105043|Ahr|aryl-hydrocarbon receptor [Source:MGI Symbol;Acc:MGI:105043]|Heterozygous|Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities.|A|T|12|39.0|Non-synonymous|Line Propagating
883983|IGL00589|10|12678618|V->M||Benign|MGI:104631|Utrn|utrophin [Source:MGI Symbol;Acc:MGI:104631]|Heterozygous|Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.|C|T|11|40.0|Non-synonymous|Line Propagating
883984|IGL00589|8|91015846|R->H||Unknown|MGI:1924001|Chd9|chromodomain helicase DNA binding protein 9 [Source:MGI Symbol;Acc:MGI:1924001]|Heterozygous||G|A|10|40.5|Non-synonymous|Line Propagating
883985|IGL00589|9|90226209|T->A||Benign|MGI:1914266|Tbc1d2b|TBC1 domain family, member 2B [Source:MGI Symbol;Acc:MGI:1914266]|Heterozygous||T|C|10|37.5|Non-synonymous|Line Propagating
883991|IGL00589|9|109717948|Disrupted splicing||N/A|MGI:3646662|Fbxw26|F-box and WD-40 domain protein 26 [Source:MGI Symbol;Acc:MGI:3646662]|Heterozygous||T|C|11|38.0|Splice|Line Propagating
884510|IGL00590|17|7765101|T->I||Unknown|MGI:1915905|Fndc1|fibronectin type III domain containing 1 [Source:MGI Symbol;Acc:MGI:1915905]|Heterozygous||G|A|240|37.0|Non-synonymous|Line Propagating
884511|IGL00590|11|102480549|D->G||Unknown|MGI:1918667|Gpatch8|G patch domain containing 8 [Source:MGI Symbol;Acc:MGI:1918667]|Heterozygous||T|C|59|37.0|Non-synonymous|Line Propagating
884512|IGL00590|14|50360916|T->A|0.13|Benign|MGI:3045226|Tlr11|toll-like receptor 11 [Source:MGI Symbol;Acc:MGI:3045226]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
884513|IGL00590|7|4723897|I->L||Benign|MGI:2679718|Tmem150b|transmembrane protein 150B [Source:MGI Symbol;Acc:MGI:2679718]|Heterozygous||T|G|39|38.0|Non-synonymous|Line Propagating
884514|IGL00590|4|123246630|Stop->W||N/A|MGI:1860511|Heyl|hairy/enhancer-of-split related with YRPW motif-like [Source:MGI Symbol;Acc:MGI:1860511]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced TrkC+ sensory neurons in the dorsal root ganglia.|A|G|34|36.0|Non-synonymous|Line Propagating
884515|IGL00590|11|86495914|W->R|1.0|Probably damaging|MGI:1924142|Rnft1|ring finger protein, transmembrane 1 [Source:MGI Symbol;Acc:MGI:1924142]|Heterozygous||T|A|31|39.0|Non-synonymous|Line Propagating
884516|IGL00590|7|75610669|K->E||Benign|MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||A|G|30|39.0|Non-synonymous|Line Propagating
884517|IGL00590|15|58415716|D->G|0.35|Benign|MGI:1277178|D15ertd621e|DNA segment, Chr 15, ERATO Doi 621, expressed [Source:MGI Symbol;Acc:MGI:1277178]|Heterozygous||A|G|29|35.0|Non-synonymous|Line Propagating
884518|IGL00590|6|131685567|W->R|1.0|Probably damaging|MGI:2681185|Tas2r104|taste receptor, type 2, member 104 [Source:MGI Symbol;Acc:MGI:2681185]|Heterozygous||A|T|27|39.0|Non-synonymous|Line Propagating
884519|IGL00590|1|6238296|F->S|0.99|Probably damaging|MGI:1341850|Rb1cc1|RB1-inducible coiled-coil 1 [Source:MGI Symbol;Acc:MGI:1341850]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration.|T|C|25|40.0|Non-synonymous|Line Propagating
884521|IGL00590|11|103237554|G->S|1.0|Probably damaging|MGI:1858204|Map3k14|mitogen-activated protein kinase kinase kinase 14 [Source:MGI Symbol;Acc:MGI:1858204]|Heterozygous|Homozygotes for a spontaneous mutation exhibit deficiencies in cellular and humoral immunity, susceptibility to infections, absence of lymph nodes and Peyer's patches, failure of isotype switching, and inflammation of exocrine organs.|C|T|23|40.0|Non-synonymous|Line Propagating
884522|IGL00590|17|32333097|D->G|1.0|Probably damaging|MGI:1860606|Akap8l|A kinase (PRKA) anchor protein 8-like [Source:MGI Symbol;Acc:MGI:1860606]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
884523|IGL00590|6|135244350|I->N|0.66|Possibly damaging|MGI:1194499|Gsg1|germ cell-specific gene 1 [Source:MGI Symbol;Acc:MGI:1194499]|Heterozygous||A|T|21|40.0|Non-synonymous|Line Propagating
884524|IGL00590|10|91023788|I->F|0.74|Possibly damaging|MGI:1306796|Apaf1|apoptotic peptidase activating factor 1 [Source:MGI Symbol;Acc:MGI:1306796]|Heterozygous|Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile.|T|A|19|39.0|Non-synonymous|Line Propagating
884525|IGL00590|6|103693061|Y->H|1.0|Probably damaging|MGI:1098266|Chl1|cell adhesion molecule with homology to L1CAM [Source:MGI Symbol;Acc:MGI:1098266]|Heterozygous|Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior.|T|C|19|33.0|Non-synonymous|Line Propagating
884526|IGL00590|4|63371878|I->V||Benign|MGI:2140340|Akna|AT-hook transcription factor [Source:MGI Symbol;Acc:MGI:2140340]|Heterozygous||T|C|17|38.0|Non-synonymous|Line Propagating
884528|IGL00590|7|19577835|D->G|0.49|Possibly damaging|MGI:1926956|Zfp296|zinc finger protein 296 [Source:MGI Symbol;Acc:MGI:1926956]|Heterozygous||A|G|14|35.5|Non-synonymous|Line Propagating
884529|IGL00590|2|115868793|A->T|1.0|Probably damaging|MGI:108564|Meis2|Meis homeobox 2 [Source:MGI Symbol;Acc:MGI:108564]|Heterozygous||C|T|13|37.0|Non-synonymous|Line Propagating
884530|IGL00590|3|94443696|L->P|1.0|Probably damaging|MGI:2137211|Mrpl9|mitochondrial ribosomal protein L9 [Source:MGI Symbol;Acc:MGI:2137211]|Heterozygous||T|C|12|37.0|Non-synonymous|Line Propagating
884531|IGL00590|11|98093129|L->P|1.0|Probably damaging|MGI:1919444|Fbxl20|F-box and leucine-rich repeat protein 20 [Source:MGI Symbol;Acc:MGI:1919444]|Heterozygous|Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission.|A|G|11|40.0|Non-synonymous|Line Propagating
884532|IGL00590|14|64779462|R->L|1.0|Probably damaging|MGI:1098265|Kif13b|kinesin family member 13B [Source:MGI Symbol;Acc:MGI:1098265]|Heterozygous||G|T|11|40.0|Non-synonymous|Line Propagating
884533|IGL00590|6|149068308|T->A|0.01|Benign|MGI:2444273|Dennd5b|DENN/MADD domain containing 5B [Source:MGI Symbol;Acc:MGI:2444273]|Heterozygous||T|C|11|39.0|Non-synonymous|Line Propagating
884534|IGL00590|10|117763803|Y->H|1.0|Probably damaging|MGI:2143854|Nup107|nucleoporin 107 [Source:MGI Symbol;Acc:MGI:2143854]|Heterozygous||A|G|10|38.0|Non-synonymous|Line Propagating
884535|IGL00590|18|36366675|Y->N||Unknown|MGI:1913310|0610010o12rik|RIKEN cDNA 0610010O12 gene [Source:MGI Symbol;Acc:MGI:1913310]|Heterozygous||T|A|10|36.0|Non-synonymous|Line Propagating
884536|IGL00590|8|105988821|M->K|0.98|Probably damaging|MGI:2442042|Dpep2|dipeptidase 2 [Source:MGI Symbol;Acc:MGI:2442042]|Heterozygous||A|T|10|37.0|Non-synonymous|Line Propagating
884537|IGL00590|9|44201198|L->V|0.97|Probably damaging|MGI:88279|Cbl|Casitas B-lineage lymphoma [Source:MGI Symbol;Acc:MGI:88279]|Heterozygous|Homozygotes for targeted null mutations exhibit increased thymic CD3 and CD4 expression and tyrosine-phosphorylation, lymphoid hyperplasia, and altered splenic hemopoiesis. Females show increased ductal density and branching in mammary fat pads.|A|C|10|36.0|Non-synonymous|Line Propagating
884545|IGL00590|7|100255619|Disrupted splicing||N/A|MGI:1918224|Pgm2l1|phosphoglucomutase 2-like 1 [Source:MGI Symbol;Acc:MGI:1918224]|Heterozygous||T|C|19|39.0|Splice|Line Propagating
884546|IGL00590|1|93794724|Disrupted splicing||N/A|MGI:108396|Dtymk|deoxythymidylate kinase [Source:MGI Symbol;Acc:MGI:108396]|Heterozygous||A|G|14|39.0|Splice|Line Propagating
885084|IGL00591|15|48004883|C->Y|1.0|Probably damaging|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||C|T|27|38.0|Non-synonymous|Line Propagating
885085|IGL00591|17|9668498|V->I|0.16|Benign|MGI:1914793|Pabpc6|poly(A) binding protein, cytoplasmic 6 [Source:MGI Symbol;Acc:MGI:1914793]|Heterozygous||C|T|23|39.0|Non-synonymous|Line Propagating
885086|IGL00591|4|145190559|T->A|0.88|Possibly damaging|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||T|C|18|34.0|Non-synonymous|Line Propagating
885087|IGL00591|13|14265980|G->R|0.73|Possibly damaging|MGI:2444115|Hecw1|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:2444115]|Heterozygous||C|T|17|37.0|Non-synonymous|Line Propagating
885088|IGL00591|10|93284827|N->S|1.0|Probably damaging|MGI:101762|Elk3|ELK3, member of ETS oncogene family [Source:MGI Symbol;Acc:MGI:101762]|Heterozygous|Mice homozygous for a targeted mutation develop a vascular defect associated with embryonic lymphangiectasis and Egr1 upregulation in the heart and pulmonary arteries at E18.5. A large proportion of homozygotes die postnatally due to respiratory failure resulting from chylothorax.|T|C|16|38.0|Non-synonymous|Line Propagating
885089|IGL00591|13|111440750|D->G|0.77|Possibly damaging|MGI:1920524|Gpbp1|GC-rich promoter binding protein 1 [Source:MGI Symbol;Acc:MGI:1920524]|Heterozygous||T|C|14|38.5|Non-synonymous|Line Propagating
885090|IGL00591|18|67133907|I->V|0.45|Possibly damaging|MGI:95774|Gnal|guanine nucleotide binding protein, alpha stimulating, olfactory type [Source:MGI Symbol;Acc:MGI:95774]|Heterozygous|Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.|A|G|13|36.0|Non-synonymous|Line Propagating
885091|IGL00591|X|106235991|Y->F|0.98|Probably damaging|MGI:2685621|Fnd3c2|fibronectin type III domain containing 3C2 [Source:MGI Symbol;Acc:MGI:2685621]|Heterozygous||T|A|13|41.0|Non-synonymous|Line Propagating
885092|IGL00591|12|116363444|L->H|1.0|Probably damaging|MGI:1261845|Esyt2|extended synaptotagmin-like protein 2 [Source:MGI Symbol;Acc:MGI:1261845]|Heterozygous||T|A|12|37.5|Non-synonymous|Line Propagating
885093|IGL00591|5|140678128|L->Stop||N/A|MGI:1921489|Iqce|IQ motif containing E [Source:MGI Symbol;Acc:MGI:1921489]|Heterozygous||A|T|11|40.0|Non-synonymous|Line Propagating
885094|IGL00591|11|73134118|V->A|0.1|Benign|MGI:1298377|Itgae|integrin alpha E, epithelial-associated [Source:MGI Symbol;Acc:MGI:1298377]|Heterozygous|Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria.|T|C|10|38.0|Non-synonymous|Line Propagating
886249|IGL00593|10|22287063|I->T|0.14|Benign|MGI:3649078|H60b|histocompatibility 60b [Source:MGI Symbol;Acc:MGI:3649078]|Heterozygous||T|C|24|36.0|Non-synonymous|Line Propagating
886250|IGL00593|6|47819671|Stop->R||N/A|MGI:3026883|Zfp786|zinc finger protein 786 [Source:MGI Symbol;Acc:MGI:3026883]|Heterozygous||A|T|23|37.0|Non-synonymous|Line Propagating
886251|IGL00593|1|163045781|N->D|0.92|Possibly damaging|MGI:1925508|4921528o07rik|RIKEN cDNA 4921528O07 gene [Source:MGI Symbol;Acc:MGI:1925508]|Heterozygous||T|C|20|40.0|Non-synonymous|Line Propagating
886252|IGL00593|11|29197205|D->G|1.0|Probably damaging|MGI:2144474|Smek2|SMEK homolog 2, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:2144474]|Heterozygous||A|G|16|38.0|Non-synonymous|Line Propagating
886253|IGL00593|12|65006399|E->G|0.99|Probably damaging|MGI:2684313|Fam179b|family with sequence similarity 179, member B [Source:MGI Symbol;Acc:MGI:2684313]|Heterozygous||A|G|16|38.5|Non-synonymous|Line Propagating
886255|IGL00593|1|4345403|T->A|0.34|Benign|MGI:88611|Rp1|retinitis pigmentosa 1 (human) [Source:MGI Symbol;Acc:MGI:1341105]|Heterozygous|Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal.|T|C|13|38.0|Non-synonymous|Line Propagating
886256|IGL00593|6|116626958|A->S|0.01|Benign|MGI:1914505|Zfp422|zinc finger protein 422 [Source:MGI Symbol;Acc:MGI:1914505]|Heterozygous||C|A|13|35.0|Non-synonymous|Line Propagating
886257|IGL00593|X|21486480|K->Stop||N/A|MGI:87966|Agtr2|angiotensin II receptor, type 2 [Source:MGI Symbol;Acc:MGI:87966]|Heterozygous|Mice homozygous for a knock-out allele may exhibit abnormal response to angiotensin II, induced panreatitis, and myocardial infarction; cardiovascular morphology and physiology; renal and unrinary morphology and physiology; and glucose and lipid homeostasis.|A|T|13|37.0|Non-synonymous|Line Propagating
886258|IGL00593|3|146436552|F->L|1.0|Probably damaging|MGI:2139150|Ssx2ip|synovial sarcoma, X breakpoint 2 interacting protein [Source:MGI Symbol;Acc:MGI:2139150]|Heterozygous||T|C|12|38.0|Non-synonymous|Line Propagating
886259|IGL00593|4|46382490|V->A||Benign|MGI:1922003|5830415f09rik|RIKEN cDNA 5830415F09 gene [Source:MGI Symbol;Acc:MGI:1922003]|Heterozygous||A|G|12|37.5|Non-synonymous|Line Propagating
886260|IGL00593|1|139323245|I->V||Benign|MGI:2136343|Crb1|crumbs homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2136343]|Heterozygous||T|C|11|39.0|Non-synonymous|Line Propagating
886261|IGL00593|X|37150831|H->Q|0.85|Possibly damaging|MGI:3618288|Akap14|A kinase (PRKA) anchor protein 14 [Source:MGI Symbol;Acc:MGI:3618288]|Heterozygous||A|T|11|38.0|Non-synonymous|Line Propagating
886264|IGL00593|11|100038694|Disrupted splicing||N/A|MGI:1309994|Krt34|keratin 34 [Source:MGI Symbol;Acc:MGI:1309994]|Heterozygous||A|G|16|39.5|Splice|Line Propagating
889757|IGL00386|11|83035527|V->I||Benign|MGI:3512288|Slfn10-ps|schlafen 10, pseudogene [Source:MGI Symbol;Acc:MGI:3512288]|Heterozygous||C|T|114|37.5|Non-synonymous|Cryopreserved
889758|IGL00386|4|9601344|N->K||Benign|MGI:1914186|Asph|aspartate-beta-hydroxylase [Source:MGI Symbol;Acc:MGI:1914186]|Heterozygous|Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.|A|T|96|39.0|Non-synonymous|Cryopreserved
889759|IGL00386|9|73517328|D->G|1.0|Probably damaging|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|T|C|85|37.0|Non-synonymous|Cryopreserved
889760|IGL00386|1|128300859|I->L||Benign|MGI:104576|Lct|lactase [Source:MGI Symbol;Acc:MGI:104576]|Heterozygous||T|A|81|38.0|Non-synonymous|Cryopreserved
889761|IGL00386|19|44979162|V->G|1.0|Probably damaging|MGI:1924968|Fam178a|family with sequence similarity 178, member A [Source:MGI Symbol;Acc:MGI:1924968]|Heterozygous||T|G|70|37.0|Non-synonymous|Cryopreserved
889762|IGL00386|1|10174076|F->L|1.0|Probably damaging|MGI:2442988|Arfgef1|ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2442988]|Heterozygous||G|T|56|40.0|Non-synonymous|Cryopreserved
889763|IGL00386|5|41794309|S->T|0.99|Probably damaging|MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|T|52|35.0|Non-synonymous|Cryopreserved
889764|IGL00386|10|61202942|S->P||Benign|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||A|G|49|35.0|Non-synonymous|Cryopreserved
889765|IGL00386|7|25225357|V->G|1.0|Probably damaging|MGI:2445181|Zfp526|zinc finger protein 526 [Source:MGI Symbol;Acc:MGI:2445181]|Heterozygous||T|G|48|34.0|Non-synonymous|Cryopreserved
889766|IGL00386|2|180616434|I->F|0.9|Possibly damaging|MGI:894686|Col9a3|collagen, type IX, alpha 3 [Source:MGI Symbol;Acc:MGI:894686]|Heterozygous||A|T|46|35.0|Non-synonymous|Cryopreserved
889770|IGL00386|14|52236993|T->A||Benign|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|T|C|40|35.5|Non-synonymous|Cryopreserved
889771|IGL00386|11|53186741|N->S|0.01|Benign|MGI:2443199|Fstl4|follistatin-like 4 [Source:MGI Symbol;Acc:MGI:2443199]|Heterozygous|Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure.|A|G|39|35.0|Non-synonymous|Cryopreserved
889772|IGL00386|3|141871338|C->S|0.86|Possibly damaging|MGI:107191|Bmpr1b|bone morphogenetic protein receptor, type 1B [Source:MGI Symbol;Acc:MGI:107191]|Heterozygous|Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities.|A|T|38|40.0|Non-synonymous|Cryopreserved
889773|IGL00386|3|95763754|R->Stop||N/A|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||T|A|36|35.0|Non-synonymous|Cryopreserved
889774|IGL00386|8|19157989|Q->H|0.25|Benign|MGI:1925378|Spag11a|sperm associated antigen 11A [Source:MGI Symbol;Acc:MGI:1925378]|Heterozygous||A|T|36|39.5|Non-synonymous|Cryopreserved
889775|IGL00386|5|13473466|T->I|1.0|Probably damaging|MGI:107558|Sema3a|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A [Source:MGI Symbol;Acc:MGI:107558]|Heterozygous|Homozygotes for targeted null mutations exhibit patterning abnormalities of sensory and sympathetic neurons, abnormal embryonic bones and cartilaginous structures, cardiac defects, and high postnatal mortality.|C|T|31|39.0|Non-synonymous|Cryopreserved
889776|IGL00386|5|114336300|I->F|0.76|Possibly damaging|MGI:1914674|Myo1h|myosin 1H [Source:MGI Symbol;Acc:MGI:1914674]|Heterozygous||A|T|31|35.0|Non-synonymous|Cryopreserved
889777|IGL00386|7|56324756|N->K|1.0|Probably damaging|MGI:97454|Oca2|oculocutaneous albinism II [Source:MGI Symbol;Acc:MGI:97454]|Heterozygous|Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality.|T|A|31|37.0|Non-synonymous|Cryopreserved
889779|IGL00386|15|86301555|D->N|1.0|Probably damaging|MGI:1289265|Tbc1d22a|TBC1 domain family, member 22a [Source:MGI Symbol;Acc:MGI:1289265]|Heterozygous||G|A|28|35.0|Non-synonymous|Cryopreserved
889781|IGL00386|11|100349548|L->P|0.92|Possibly damaging|MGI:1261831|Hap1|huntingtin-associated protein 1 [Source:MGI Symbol;Acc:MGI:1261831]|Heterozygous|Homozygous mutant mice are viable at birth but show neurodegeneration in areas of the brain including the regions of the hypothalamus that control feeding behavior. Mutant mice exhibit decreased feeding behavior and die between 2 and 15 days after birth.|A|G|25|35.0|Non-synonymous|Cryopreserved
889782|IGL00386|15|99402122|V->M|0.04|Benign|MGI:99682|Tmbim6|transmembrane BAX inhibitor motif containing 6 [Source:MGI Symbol;Acc:MGI:99682]|Heterozygous|Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.|G|A|25|35.0|Non-synonymous|Cryopreserved
889783|IGL00386|11|70671482|R->Stop||N/A|MGI:2135957|Camta2|calmodulin binding transcription activator 2 [Source:MGI Symbol;Acc:MGI:2135957]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli.|G|A|21|37.0|Non-synonymous|Cryopreserved
889784|IGL00386|1|9545693|P->L||Benign|MGI:1929721|Rrs1|RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1929721]|Heterozygous||C|T|20|33.5|Non-synonymous|Cryopreserved
889785|IGL00386|17|34565697|C->Y|0.03|Benign|MGI:107471|Notch4|Notch gene homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:107471]|Heterozygous|Homozygotes develop normally and viable with normal fertility. Animals heterozygous for Notch1 deletion and lacking Notch4 are viable but exhibit postnatal growth retardation (80% of control weight at 2-3 weeks).|G|A|20|37.0|Non-synonymous|Cryopreserved
889786|IGL00386|9|64020501|T->K|0.02|Benign|MGI:1336883|Smad6|MAD homolog 6 (Drosophila) [Source:MGI Symbol;Acc:MGI:1336883]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults.|G|T|13|35.0|Non-synonymous|Cryopreserved
889787|IGL00386|16|18234952|A->D|0.8|Possibly damaging|MGI:1338012|Zdhhc8|zinc finger, DHHC domain containing 8 [Source:MGI Symbol;Acc:MGI:1338012]|Heterozygous|Homozygous null females display impaired prepulse inhibition and reduced exploration in new environments. Homozygous null males display normal prepulse inhibition and only a slight decrease in exploration.|G|T|11|35.0|Non-synonymous|Cryopreserved
889793|IGL00386|3|102145432|Disrupted splicing||N/A|MGI:1309469|Casq2|calsequestrin 2 [Source:MGI Symbol;Acc:MGI:1309469]|Heterozygous|Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia.|T|C|88|37.5|Splice|Cryopreserved
889794|IGL00386|5|25302701|Disrupted splicing||N/A|MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|A|G|38|35.0|Splice|Cryopreserved
889795|IGL00386|3|28625228|Disrupted splicing||N/A|MGI:1916264|Tnik|TRAF2 and NCK interacting kinase [Source:MGI Symbol;Acc:MGI:1916264]|Heterozygous||T|C|34|37.5|Splice|Cryopreserved
889796|IGL00386|9|20800239|Disrupted splicing||N/A|MGI:1858212|Col5a3|collagen, type V, alpha 3 [Source:MGI Symbol;Acc:MGI:1858212]|Heterozygous|Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer.|T|C|34|37.0|Splice|Cryopreserved
889798|IGL00386|7|139987276|Disrupted splicing||N/A|MGI:107825|Adam8|a disintegrin and metallopeptidase domain 8 [Source:MGI Symbol;Acc:MGI:107825]|Heterozygous|Homozygous mutant mice do not exhibit any morphological or pathological abnormalities. Mice homozygous for a different knock-out allele exhibit reduced osteoclast differentiation and calvarial fibrosis in response to TNF-alpha treatment.|G|A|16|34.0|Splice|Cryopreserved
889799|IGL00386|9|59603145|Disrupted splicing||N/A|MGI:1923433|Celf6|CUGBP, Elav-like family member 6 [Source:MGI Symbol;Acc:MGI:1923433]|Heterozygous||A|G|13|35.0|Splice|Cryopreserved
889800|IGL00386|14|118938172|Disrupted splicing||N/A|MGI:107373|Dnajc3|DnaJ (Hsp40) homolog, subfamily C, member 3 [Source:MGI Symbol;Acc:MGI:107373]|Heterozygous|Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells.|T|A|10|34.0|Splice|Cryopreserved
918497|IGL00387|6|125281340|R->H|1.0|Probably damaging|MGI:1095406|Tuba3a|tubulin, alpha 3A [Source:MGI Symbol;Acc:MGI:1095406]|Heterozygous||C|T|178|35.0|Non-synonymous|Cryopreserved
918498|IGL00387|6|120808411|M->V|0.01|Benign|MGI:894326|Atp6v1e1|ATPase, H+ transporting, lysosomal V1 subunit E1 [Source:MGI Symbol;Acc:MGI:894326]|Heterozygous||T|C|135|39.0|Non-synonymous|Cryopreserved
918499|IGL00387|11|67283403|V->M|0.91|Possibly damaging|MGI:1339712|Myh8|myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]|Heterozygous||G|A|133|37.0|Non-synonymous|Cryopreserved
918500|IGL00387|3|142542857|T->A|0.1|Benign|MGI:2444421|Gbp7|guanylate binding protein 7 [Source:MGI Symbol;Acc:MGI:2444421]|Heterozygous||A|G|133|35.0|Non-synonymous|Cryopreserved
918501|IGL00387|16|73928151|T->A|0.06|Benign|MGI:1890110|Robo2|roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]|Heterozygous|Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.|T|C|129|37.0|Non-synonymous|Cryopreserved
918502|IGL00387|3|68963679|D->N|0.04|Benign|MGI:1915509|Ift80|intraflagellar transport 80 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1915509]|Heterozygous|Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium.|C|T|103|39.0|Non-synonymous|Cryopreserved
918503|IGL00387|8|11782540|S->N|0.49|Possibly damaging|MGI:1860493|Arhgef7|Rho guanine nucleotide exchange factor (GEF7) [Source:MGI Symbol;Acc:MGI:1860493]|Heterozygous||G|A|83|37.0|Non-synonymous|Cryopreserved
918504|IGL00387|2|121925722|V->I|0.04|Benign|MGI:2443129|Casc4|cancer susceptibility candidate 4 [Source:MGI Symbol;Acc:MGI:2443129]|Heterozygous||G|A|82|38.0|Non-synonymous|Cryopreserved
918505|IGL00387|7|17208732|S->R|0.15|Benign|MGI:1891361|Psg29|pregnancy-specific glycoprotein 29 [Source:MGI Symbol;Acc:MGI:1891361]|Heterozygous||T|A|81|37.0|Non-synonymous|Cryopreserved
918506|IGL00387|11|29544973|D->G|0.9|Possibly damaging|MGI:1924034|Mtif2|mitochondrial translational initiation factor 2 [Source:MGI Symbol;Acc:MGI:1924034]|Heterozygous||A|G|76|37.5|Non-synonymous|Cryopreserved
918507|IGL00387|7|130824361|I->N|0.97|Probably damaging|MGI:3045247|Btbd16|BTB (POZ) domain containing 16 [Source:MGI Symbol;Acc:MGI:3045247]|Heterozygous||T|A|70|35.0|Non-synonymous|Cryopreserved
918508|IGL00387|3|72966838|E->G|0.95|Possibly damaging|MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||T|C|68|38.0|Non-synonymous|Cryopreserved
918509|IGL00387|2|63979010|S->P|0.9|Possibly damaging|MGI:1890647|Fign|fidgetin [Source:MGI Symbol;Acc:MGI:1890647]|Heterozygous|Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal defects.|A|G|67|37.0|Non-synonymous|Cryopreserved
918511|IGL00387|6|135211906|V->M|0.01|Benign|MGI:1921775|8430419l09rik|RIKEN cDNA 8430419L09 gene [Source:MGI Symbol;Acc:MGI:1921775]|Heterozygous||G|A|62|35.0|Non-synonymous|Cryopreserved
918512|IGL00387|4|105075462|R->Q|1.0|Probably damaging|MGI:1336173|Prkaa2|protein kinase, AMP-activated, alpha 2 catalytic subunit [Source:MGI Symbol;Acc:MGI:1336173]|Heterozygous|Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance.|C|T|58|39.5|Non-synonymous|Cryopreserved
918513|IGL00387|15|100471759|M->T|0.5|Possibly damaging|MGI:1915864|Letmd1|LETM1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1915864]|Heterozygous||T|C|57|35.0|Non-synonymous|Cryopreserved
918514|IGL00387|2|150473047|N->S|0.97|Probably damaging|MGI:3652219|Zfp345|zinc finger protein 345 [Source:MGI Symbol;Acc:MGI:3652219]|Heterozygous||T|C|57|38.0|Non-synonymous|Cryopreserved
918515|IGL00387|10|4369702|I->T|0.95|Possibly damaging|MGI:2685949|Zbtb2|zinc finger and BTB domain containing 2 [Source:MGI Symbol;Acc:MGI:2685949]|Heterozygous||T|C|56|35.5|Non-synonymous|Cryopreserved
918517|IGL00387|2|122319871|G->R|0.1|Benign|MGI:2139422|Duox1|dual oxidase 1 [Source:MGI Symbol;Acc:MGI:2139422]|Heterozygous||G|A|52|37.0|Non-synonymous|Cryopreserved
918518|IGL00387|7|132567173|D->G||Benign|MGI:97394|Oat|ornithine aminotransferase [Source:MGI Symbol;Acc:MGI:97394]|Heterozygous|Homozygous null mutants show neonatal hypoornithinemia and increased mortality that is prevented by administering arginine. Homozygotes develop hyperornithinemia post-weaning with gradual degeneration of pigment epithelium and photoreceptors.|T|C|52|38.0|Non-synonymous|Cryopreserved
918519|IGL00387|7|139254855|E->Stop||N/A|MGI:2142008|Pwwp2b|PWWP domain containing 2B [Source:MGI Symbol;Acc:MGI:2142008]|Heterozygous||G|T|51|35.0|Non-synonymous|Cryopreserved
918520|IGL00387|9|95862783|V->A|1.0|Probably damaging|MGI:108028|Atr|ataxia telangiectasia and Rad3 related [Source:MGI Symbol;Acc:MGI:108028]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence.|T|C|50|37.0|Non-synonymous|Cryopreserved
918521|IGL00387|17|46539023|E->G|1.0|Probably damaging|MGI:1925559|Cul9|cullin 9 [Source:MGI Symbol;Acc:MGI:1925559]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis.|T|C|46|37.0|Non-synonymous|Cryopreserved
918522|IGL00387|11|101984644|N->K|0.02|Benign|MGI:1919599|Dusp3|dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) [Source:MGI Symbol;Acc:MGI:1919599]|Heterozygous||G|T|43|35.0|Non-synonymous|Cryopreserved
918523|IGL00387|2|31914656|V->A||Benign|MGI:1344394|Lamc3|laminin gamma 3 [Source:MGI Symbol;Acc:MGI:1344394]|Heterozygous||T|C|39|36.0|Non-synonymous|Cryopreserved
918524|IGL00387|4|134196819|V->M|0.99|Probably damaging|MGI:3702974|Gm7534|predicted gene 7534 [Source:MGI Symbol;Acc:MGI:3702974]|Heterozygous||C|T|39|36.0|Non-synonymous|Cryopreserved
918525|IGL00387|12|104008586|N->Y|1.0|Probably damaging|MGI:1919157|Serpina9|serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 [Source:MGI Symbol;Acc:MGI:1919157]|Heterozygous||T|A|38|34.5|Non-synonymous|Cryopreserved
918526|IGL00387|4|117166904|F->I|1.0|Probably damaging|MGI:1921054|Kif2c|kinesin family member 2C [Source:MGI Symbol;Acc:MGI:1921054]|Heterozygous||A|T|31|37.0|Non-synonymous|Cryopreserved
918527|IGL00387|2|21212494|L->S|0.78|Possibly damaging|MGI:2139347|Thnsl1|threonine synthase-like 1 (bacterial) [Source:MGI Symbol;Acc:MGI:2139347]|Heterozygous||T|C|27|39.0|Non-synonymous|Cryopreserved
918528|IGL00387|8|71352000|R->K||Benign|MGI:106624|Myo9b|myosin IXb [Source:MGI Symbol;Acc:MGI:106624]|Heterozygous|Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.|G|A|25|35.0|Non-synonymous|Cryopreserved
918529|IGL00387|4|155992138|D->V|0.57|Possibly damaging|MGI:2152819|B3galt6|UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 [Source:MGI Symbol;Acc:MGI:2152819]|Heterozygous||T|A|17|34.0|Non-synonymous|Cryopreserved
918530|IGL00387|18|60912494|E->D|1.0|Probably damaging|MGI:2670959|Arsi|arylsulfatase i [Source:MGI Symbol;Acc:MGI:2670959]|Heterozygous||G|T|15|38.0|Non-synonymous|Cryopreserved
918531|IGL00387|18|5591958|R->S|1.0|Probably damaging|MGI:1344313|Zeb1|zinc finger E-box binding homeobox 1 [Source:MGI Symbol;Acc:MGI:1344313]|Heterozygous|Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations also exhibit extensive skeletal abnormalities. Homozygotes generally die at birth.|C|A|10|33.0|Non-synonymous|Cryopreserved
918532|IGL00387|6|123336137|W->L|1.0|Probably damaging|MGI:3647444|Vmn2r19|vomeronasal 2, receptor 19 [Source:MGI Symbol;Acc:MGI:3647444]|Heterozygous||G|T|10|36.0|Non-synonymous|Cryopreserved
918539|IGL00387|7|79825705|Disrupted splicing||N/A|MGI:5000466|Anpep|alanyl (membrane) aminopeptidase [Source:MGI Symbol;Acc:MGI:96749]|Heterozygous||C|A|111|37.0|Splice|Cryopreserved
918540|IGL00387|7|112315076|Disrupted splicing||N/A|MGI:2444947|Mical2|microtubule associated monoxygenase, calponin and LIM domain containing 2 [Source:MGI Symbol;Acc:MGI:2444947]|Heterozygous||T|A|80|37.0|Splice|Cryopreserved
918541|IGL00387|1|138120173|Disrupted splicing||N/A|MGI:97810|Ptprc|protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]|Heterozygous|Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.|T|C|76|37.0|Splice|Cryopreserved
918542|IGL00387|1|68298449|Disrupted splicing||N/A|MGI:104771|Erbb4|v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:MGI Symbol;Acc:MGI:104771]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects.|A|T|69|38.0|Splice|Cryopreserved
918543|IGL00387|15|85375422|Disrupted splicing||N/A|MGI:1859293|Atxn10|ataxin 10 [Source:MGI Symbol;Acc:MGI:1859293]|Heterozygous||A|G|57|37.0|Splice|Cryopreserved
918545|IGL00387|1|177130967|Disrupted splicing||N/A|MGI:1345147|Akt3|thymoma viral proto-oncogene 3 [Source:MGI Symbol;Acc:MGI:1345147]|Heterozygous|Homozygous null mice exhibit a 20% decrease in brain size and have smaller and fewer cells in the brain. Mice heterozygous for an ENU-induced mutation exhibit increased seizures (sporadic and induced) and increased brain weight and size.|T|G|43|40.0|Splice|Cryopreserved
918546|IGL00387|1|59107453|Disrupted splicing||N/A|MGI:2138365|Als2cr4|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 [Source:MGI Symbol;Acc:MGI:2138365]|Heterozygous||C|A|40|39.0|Splice|Cryopreserved
918547|IGL00387|19|40569181|Disrupted splicing||N/A|MGI:1888908|Aldh18a1|aldehyde dehydrogenase 18 family, member A1 [Source:MGI Symbol;Acc:MGI:1888908]|Heterozygous||C|T|20|35.5|Splice|Cryopreserved
947533|IGL00388|6|132207231|Q->K||Unknown|MGI:2681872|Prb1|proline-rich protein BstNI subfamily 1 [Source:MGI Symbol;Acc:MGI:2681872]|Heterozygous||G|T|258|35.0|Non-synonymous|Cryopreserved
947534|IGL00388|10|52544726|V->A|0.53|Possibly damaging|MGI:99153|Zfa|zinc finger protein, autosomal [Source:MGI Symbol;Acc:MGI:99153]|Heterozygous|Male homozygous null were fertile and showed no spermatogenic or testicular defects.|A|G|204|39.0|Non-synonymous|Cryopreserved
947535|IGL00388|18|60245436|D->E|0.89|Possibly damaging|MGI:3644953|Gm4951|predicted gene 4951 [Source:MGI Symbol;Acc:MGI:3644953]|Heterozygous||T|A|158|38.0|Non-synonymous|Cryopreserved
947536|IGL00388|13|61568174|I->F|0.86|Possibly damaging|MGI:2151929|Cts3|cathepsin 3 [Source:MGI Symbol;Acc:MGI:2151929]|Heterozygous||T|A|145|39.0|Non-synonymous|Cryopreserved
947538|IGL00388|4|120099246|H->Q|0.05|Benign|MGI:106589|Hivep3|human immunodeficiency virus type I enhancer binding protein 3 [Source:MGI Symbol;Acc:MGI:106589]|Heterozygous|Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells.|T|A|103|38.0|Non-synonymous|Cryopreserved
947539|IGL00388|7|34021803|T->A|0.97|Probably damaging|MGI:3526941, MGI:87862, MGI:3042905, MGI:3701658, MGI:3526943, MGI:3042906, MGI:3526942, MGI:3042571, MGI:4438566, MGI:3579880, MGI:3526944, MGI:3042904, MGI:3042907|Abpa|androgen binding protein alpha [Source:MGI Symbol;Acc:MGI:87862]|Heterozygous||A|G|100|38.5|Non-synonymous|Cryopreserved
947540|IGL00388|1|107154457|D->G|0.37|Benign|MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||T|C|99|38.0|Non-synonymous|Cryopreserved
947541|IGL00388|9|77981571|I->T|0.42|Benign|MGI:1916051|Elovl5|ELOVL family member 5, elongation of long chain fatty acids (yeast) [Source:MGI Symbol;Acc:MGI:1916051]|Heterozygous|Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility.|T|C|93|37.0|Non-synonymous|Cryopreserved
947542|IGL00388|6|3965359|H->L||Benign|MGI:108543|Tfpi2|tissue factor pathway inhibitor 2 [Source:MGI Symbol;Acc:MGI:108543]|Heterozygous||T|A|87|39.0|Non-synonymous|Cryopreserved
947543|IGL00388|19|47962469|N->S||Benign|MGI:2685815|Ccdc147|coiled-coil domain containing 147 [Source:MGI Symbol;Acc:MGI:2685815]|Heterozygous||A|G|85|35.0|Non-synonymous|Cryopreserved
947544|IGL00388|8|122894728|K->R|0.99|Probably damaging|MGI:1924337|Ankrd11|ankyrin repeat domain 11 [Source:MGI Symbol;Acc:MGI:1924337]|Heterozygous|Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.|T|C|83|38.0|Non-synonymous|Cryopreserved
947547|IGL00388|12|81631762|V->I|0.46|Possibly damaging|MGI:1916730|Ttc9|tetratricopeptide repeat domain 9 [Source:MGI Symbol;Acc:MGI:1916730]|Heterozygous||G|A|76|34.0|Non-synonymous|Cryopreserved
947548|IGL00388|11|43730493|N->S|0.99|Probably damaging|MGI:1914077|Ttc1|tetratricopeptide repeat domain 1 [Source:MGI Symbol;Acc:MGI:1914077]|Heterozygous||T|C|74|37.0|Non-synonymous|Cryopreserved
947549|IGL00388|4|127088359|P->L||Benign|MGI:106505|Zmym6|zinc finger, MYM-type 6 [Source:MGI Symbol;Acc:MGI:106505]|Heterozygous||C|T|73|38.0|Non-synonymous|Cryopreserved
947550|IGL00388|19|53629327|V->A|1.0|Probably damaging|MGI:1339795|Smc3|structural maintenace of chromosomes 3 [Source:MGI Symbol;Acc:MGI:1339795]|Heterozygous||T|C|69|36.0|Non-synonymous|Cryopreserved
947551|IGL00388|5|143388900|D->A|1.0|Probably damaging|MGI:2176213|Grid2ip|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1 [Source:MGI Symbol;Acc:MGI:2176213]|Heterozygous|Mice homozygous for a knock-out allele display facilitated long-term depression induction at parallel fiber-Purkinje cell synapses as well as enhanced optokinetic response adaptation.|A|C|67|33.0|Non-synonymous|Cryopreserved
947552|IGL00388|12|31301064|D->G||Benign|MGI:96743|Lamb1|laminin B1 [Source:MGI Symbol;Acc:MGI:96743]|Heterozygous|Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. The mutant embryonic region shows no signs of cavitation, the mural trophectoderm and parietal endoderm appear disorganized, and trophoblast invasion is greatly reduced.|A|G|66|37.0|Non-synonymous|Cryopreserved
947553|IGL00388|17|78863858|L->S|1.0|Probably damaging|MGI:1353449|Eif2ak2|eukaryotic translation initiation factor 2-alpha kinase 2 [Source:MGI Symbol;Acc:MGI:1353449]|Heterozygous|Mice homozygous for disruptions in this gene display altered susceptibility to viral infection.|A|G|63|39.0|Non-synonymous|Cryopreserved
947554|IGL00388|15|85244189|D->G|0.81|Possibly damaging|MGI:95487|Fbln1|fibulin 1 [Source:MGI Symbol;Acc:MGI:95487]|Heterozygous|Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities.|A|G|59|36.0|Non-synonymous|Cryopreserved
947555|IGL00388|14|121272774|A->V||N/A|MGI:2446173|Farp1|FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived) [Source:MGI Symbol;Acc:MGI:2446173]|Heterozygous||C|T|58|35.0|Non-synonymous|Cryopreserved
947556|IGL00388|7|110125848|D->V||Benign|MGI:103075|Wee1|WEE 1 homolog 1 (S. pombe) [Source:MGI Symbol;Acc:MGI:103075]|Heterozygous||A|T|58|38.0|Non-synonymous|Cryopreserved
947557|IGL00388|4|141067568|F->S|0.94|Possibly damaging|MGI:1913397|Necap2|NECAP endocytosis associated 2 [Source:MGI Symbol;Acc:MGI:1913397]|Heterozygous||A|G|57|35.0|Non-synonymous|Cryopreserved
947558|IGL00388|11|70396894|R->W||Unknown|MGI:1922523|Pelp1|proline, glutamic acid and leucine rich protein 1 [Source:MGI Symbol;Acc:MGI:1922523]|Heterozygous||G|A|52|37.0|Non-synonymous|Cryopreserved
947560|IGL00388|8|35384322|E->G|0.54|Possibly damaging|MGI:2177268|Ppp1r3b|protein phosphatase 1, regulatory (inhibitor) subunit 3B [Source:MGI Symbol;Acc:MGI:2177268]|Heterozygous|Mice homozygous for a knock-in point mutation exhibit improved glucose tolerance and increased weight loss and serum glucose level in response to a 36 hour fast.|A|G|52|36.0|Non-synonymous|Cryopreserved
947561|IGL00388|18|50282052|V->A|0.97|Probably damaging|MGI:2684939|Fam170a|family with sequence similarity 170, member A [Source:MGI Symbol;Acc:MGI:2684939]|Heterozygous||T|C|51|35.0|Non-synonymous|Cryopreserved
947562|IGL00388|3|116570851|R->S||Benign|MGI:1924557|Lrrc39|leucine rich repeat containing 39 [Source:MGI Symbol;Acc:MGI:1924557]|Heterozygous||A|T|50|36.0|Non-synonymous|Cryopreserved
947563|IGL00388|1|74379796|L->H|0.86|Possibly damaging|MGI:1345275|Slc11a1|solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 [Source:MGI Symbol;Acc:MGI:1345275]|Heterozygous|Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection.|T|A|45|35.0|Non-synonymous|Cryopreserved
947564|IGL00388|14|47708878|S->P||Benign|MGI:109153|Ktn1|kinectin 1 [Source:MGI Symbol;Acc:MGI:109153]|Heterozygous|Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.|T|C|44|39.0|Non-synonymous|Cryopreserved
947565|IGL00388|17|34693808|D->E|0.07|Benign|MGI:1932137|Tnxb|tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]|Heterozygous|Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.|T|A|44|35.0|Non-synonymous|Cryopreserved
947568|IGL00388|7|23321667|K->N|0.97|Probably damaging|MGI:3056600|Nlrp4e|NLR family, pyrin domain containing 4E [Source:MGI Symbol;Acc:MGI:3056600]|Heterozygous||A|T|38|37.0|Non-synonymous|Cryopreserved
947569|IGL00388|11|101766701|D->N|1.0|Probably damaging|MGI:1306823|Dhx8|DEAH (Asp-Glu-Ala-His) box polypeptide 8 [Source:MGI Symbol;Acc:MGI:1306823]|Heterozygous||G|A|37|35.0|Non-synonymous|Cryopreserved
947570|IGL00388|3|26840722|I->F|0.99|Probably damaging|MGI:1918112|Spata16|spermatogenesis associated 16 [Source:MGI Symbol;Acc:MGI:1918112]|Heterozygous||A|T|34|36.0|Non-synonymous|Cryopreserved
947571|IGL00388|13|52968019|G->D|1.0|Probably damaging|MGI:109495|Nfil3|nuclear factor, interleukin 3, regulated [Source:MGI Symbol;Acc:MGI:109495]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased NK cell differentiation, numbers, and activity. Mice homozygous for a different knock-out allele exhibit reduced class switching and IgE production.|C|T|33|37.0|Non-synonymous|Cryopreserved
947572|IGL00388|5|88459359|A->T|0.7|Possibly damaging|MGI:104655|Ambn|ameloblastin [Source:MGI Symbol;Acc:MGI:104655]|Heterozygous|Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.|G|A|26|39.0|Non-synonymous|Cryopreserved
947573|IGL00388|16|33966902|V->A|0.04|Benign|MGI:1298388|Umps|uridine monophosphate synthetase [Source:MGI Symbol;Acc:MGI:1298388]|Heterozygous||A|G|25|35.0|Non-synonymous|Cryopreserved
947574|IGL00388|14|52315148|M->L|0.38|Benign|MGI:1354373|Sall2|sal-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1354373]|Heterozygous|Homozygous mutation of this gene results in no apparent abnormal phenotypes.|T|A|22|35.0|Non-synonymous|Cryopreserved
947576|IGL00388|X|37878192|G->E||Unknown|MGI:3579898|Rhox8|reproductive homeobox 8 [Source:MGI Symbol;Acc:MGI:3579898]|Heterozygous||C|T|20|33.0|Non-synonymous|Cryopreserved
947577|IGL00388|2|121576339|A->E|1.0|Probably damaging|MGI:2442557|Frmd5|FERM domain containing 5 [Source:MGI Symbol;Acc:MGI:2442557]|Heterozygous||G|T|17|37.0|Non-synonymous|Cryopreserved
947578|IGL00388|13|22524597|Q->Stop||N/A|MGI:2159674|Vmn1r203|vomeronasal 1 receptor 203 [Source:MGI Symbol;Acc:MGI:2159674]|Heterozygous||C|T|11|38.0|Non-synonymous|Cryopreserved
947579|IGL00388|10|86779248|A->S||Benign|MGI:3513266|Nt5dc3|5'-nucleotidase domain containing 3 [Source:MGI Symbol;Acc:MGI:3513266]|Heterozygous||G|T|10|34.0|Non-synonymous|Cryopreserved
947585|IGL00388|18|12441143|Disrupted splicing||N/A|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|T|C|86|36.0|Splice|Cryopreserved
947586|IGL00388|11|55162825|Disrupted splicing||N/A|MGI:1891430|Slc36a2|solute carrier family 36 (proton/amino acid symporter), member 2 [Source:MGI Symbol;Acc:MGI:1891430]|Heterozygous||A|T|63|34.0|Splice|Cryopreserved
947588|IGL00388|9|78209188|Disrupted splicing||N/A|MGI:1309515|Gsta4|glutathione S-transferase, alpha 4 [Source:MGI Symbol;Acc:MGI:1309515]|Heterozygous|Mice homozygous for disruptions in this gene display increased sensitivity to oxidative stress, increased alanine and aspartate transaminase levels, increased susceptibility to bacterial infection, reduced litter size, and impaired glucose tolerance.|G|T|41|38.0|Splice|Cryopreserved
947591|IGL00388|11|9683274|Disrupted splicing||N/A|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||G|T|18|40.0|Splice|Cryopreserved
976695|IGL00389|9|116129980|L->Q|0.55|Possibly damaging|MGI:98729|Tgfbr2|transforming growth factor, beta receptor II [Source:MGI Symbol;Acc:MGI:98729]|Heterozygous|Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively.|A|T|110|35.5|Non-synonymous|Cryopreserved
976696|IGL00389|11|86502766|M->V||Benign|MGI:1270849|Rps6kb1|ribosomal protein S6 kinase, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1270849]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced prenatal growth, glucose intolerance, and hypoinsulinemia associated with diminished pancreatic beta cell size.|T|C|100|39.0|Non-synonymous|Cryopreserved
976697|IGL00389|2|25520438|R->Stop||N/A|MGI:101835|Traf2|TNF receptor-associated factor 2 [Source:MGI Symbol;Acc:MGI:101835]|Heterozygous|Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes.|G|A|72|35.0|Non-synonymous|Cryopreserved
976698|IGL00389|13|100154938|V->D|0.99|Probably damaging|MGI:1298226|Naip2|NLR family, apoptosis inhibitory protein 2 [Source:MGI Symbol;Acc:MGI:1298226]|Heterozygous||A|T|70|36.0|Non-synonymous|Cryopreserved
976699|IGL00389|5|108193720|E->G|0.08|Benign|MGI:1922974|Ccdc18|coiled-coil domain containing 18 [Source:MGI Symbol;Acc:MGI:1922974]|Heterozygous||A|G|70|37.0|Non-synonymous|Cryopreserved
976700|IGL00389|9|78461643|K->R||N/A|MGI:1915541|Mto1|mitochondrial translation optimization 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915541]|Heterozygous||A|G|70|38.0|Non-synonymous|Cryopreserved
976701|IGL00389|3|73049273|G->D|0.96|Probably damaging|MGI:2679447|Slitrk3|SLIT and NTRK-like family, member 3 [Source:MGI Symbol;Acc:MGI:2679447]|Heterozygous||C|T|69|35.0|Non-synonymous|Cryopreserved
976702|IGL00389|8|72445215|S->R|0.01|Benign|MGI:1919504|1700030k09rik|RIKEN cDNA 1700030K09 gene [Source:MGI Symbol;Acc:MGI:1919504]|Heterozygous||C|A|60|37.0|Non-synonymous|Cryopreserved
976703|IGL00389|18|39774429|D->G|0.25|Benign|MGI:1349723|Pabpc2|poly(A) binding protein, cytoplasmic 2 [Source:MGI Symbol;Acc:MGI:1349723]|Heterozygous||A|G|59|35.0|Non-synonymous|Cryopreserved
976705|IGL00389|9|100945933|E->G|0.04|Benign|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||A|G|51|36.0|Non-synonymous|Cryopreserved
976707|IGL00389|16|91643092|R->Stop||N/A|MGI:95654|Gart|phosphoribosylglycinamide formyltransferase [Source:MGI Symbol;Acc:MGI:95654]|Heterozygous||G|A|44|35.0|Non-synonymous|Cryopreserved
976708|IGL00389|1|184819316|I->L||Benign|MGI:1914497|Mosc2|MOCO sulphurase C-terminal domain containing 2 [Source:MGI Symbol;Acc:MGI:1914497]|Heterozygous||T|G|41|34.0|Non-synonymous|Cryopreserved
976709|IGL00389|17|73827489|D->G|0.99|Probably damaging|MGI:1928900|Ehd3|EH-domain containing 3 [Source:MGI Symbol;Acc:MGI:1928900]|Heterozygous|Mice homozygous for a knock-out allele are healthy and fertile.|A|G|32|35.5|Non-synonymous|Cryopreserved
976710|IGL00389|3|103346715|Q->Stop||N/A|MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|C|T|31|37.0|Non-synonymous|Cryopreserved
976711|IGL00389|10|41071151|M->T||Benign|MGI:2155249|Gpr6|G protein-coupled receptor 6 [Source:MGI Symbol;Acc:MGI:2155249]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|A|G|29|35.0|Non-synonymous|Cryopreserved
976712|IGL00389|15|12827289|T->M||Unknown|MGI:1261425|Drosha|drosha, ribonuclease type III [Source:MGI Symbol;Acc:MGI:1261425]|Heterozygous||C|T|27|37.0|Non-synonymous|Cryopreserved
976713|IGL00389|12|11092426|M->V|0.04|Benign|MGI:1098804|Kcns3|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 [Source:MGI Symbol;Acc:MGI:1098804]|Heterozygous||T|C|26|37.0|Non-synonymous|Cryopreserved
976715|IGL00389|4|52474976|A->V|0.06|Benign|MGI:106067|Smc2|structural maintenance of chromosomes 2 [Source:MGI Symbol;Acc:MGI:106067]|Heterozygous||C|T|25|37.0|Non-synonymous|Cryopreserved
976716|IGL00389|19|5731265|S->P|1.0|Probably damaging|MGI:1913482|Sssca1|Sjogren's syndrome/scleroderma autoantigen 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1913482]|Heterozygous||A|G|20|36.5|Non-synonymous|Cryopreserved
976717|IGL00389|6|88496484|T->I|0.16|Benign|MGI:1928760|Ruvbl1|RuvB-like protein 1 [Source:MGI Symbol;Acc:MGI:1928760]|Heterozygous||C|T|20|34.5|Non-synonymous|Cryopreserved
976718|IGL00389|11|70465916|Y->H|1.0|Probably damaging|MGI:3603821|Zmynd15|zinc finger, MYND-type containing 15 [Source:MGI Symbol;Acc:MGI:3603821]|Heterozygous||T|C|18|33.0|Non-synonymous|Cryopreserved
976719|IGL00389|10|88960600|T->I|0.14|Benign|MGI:2443344|Ano4|anoctamin 4 [Source:MGI Symbol;Acc:MGI:2443344]|Heterozygous||G|A|14|35.5|Non-synonymous|Cryopreserved
976721|IGL00389|9|32116151|E->Stop||N/A|MGI:2450166|Arhgap32|Rho GTPase activating protein 32 [Source:MGI Symbol;Acc:MGI:2450166]|Heterozygous|Mice homozygous for a null mutation are fertile but display abnormal neurite growth.|G|T|10|37.0|Non-synonymous|Cryopreserved
976726|IGL00389|10|107023849|Disrupted splicing||N/A|MGI:2685720|Acss3|acyl-CoA synthetase short-chain family member 3 [Source:MGI Symbol;Acc:MGI:2685720]|Heterozygous||G|T|54|39.0|Splice|Cryopreserved
976728|IGL00389|6|115976750|Disrupted splicing||N/A|MGI:2154244|Plxnd1|plexin D1 [Source:MGI Symbol;Acc:MGI:2154244]|Heterozygous|Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels.|G|T|18|35.0|Splice|Cryopreserved
1005348|IGL00390|1|53299118|V->A||Benign|MGI:2181669|Ormdl1|ORM1-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2181669]|Heterozygous||T|C|234|37.0|Non-synonymous|Cryopreserved
1005349|IGL00390|3|90009256|Q->Stop||N/A|MGI:1921633|Ubap2l|ubiquitin associated protein 2-like [Source:MGI Symbol;Acc:MGI:1921633]|Heterozygous||G|A|230|35.0|Non-synonymous|Cryopreserved
1005350|IGL00390|11|115124333|S->P|0.85|Possibly damaging|MGI:2442359, MGI:1929945|Cd300lf,rab37|CD300 antigen like family member F [Source:MGI Symbol;Acc:MGI:2442359],RAB37, member of RAS oncogene family [Source:MGI Symbol;Acc:MGI:1929945]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination.,NO_PHENOTYPE|A|G|204|35.0|Non-synonymous|Cryopreserved
1005351|IGL00390|10|14409798|I->S|0.92|Possibly damaging|MGI:1916151|Gpr126|G protein-coupled receptor 126 [Source:MGI Symbol;Acc:MGI:1916151]|Heterozygous|Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure.|A|C|146|39.0|Non-synonymous|Cryopreserved
1005352|IGL00390|2|120979219|K->N|0.16|Benign|MGI:2139461|Tmem62|transmembrane protein 62 [Source:MGI Symbol;Acc:MGI:2139461]|Heterozygous||G|T|118|36.5|Non-synonymous|Cryopreserved
1005353|IGL00390|6|15196973|S->P|0.99|Probably damaging|MGI:2148705|Foxp2|forkhead box P2 [Source:MGI Symbol;Acc:MGI:2148705]|Heterozygous|Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity.|T|C|113|39.0|Non-synonymous|Cryopreserved
1005354|IGL00390|6|36524438|N->S|0.29|Benign|MGI:88397|Chrm2|cholinergic receptor, muscarinic 2, cardiac [Source:MGI Symbol;Acc:MGI:88397]|Heterozygous|Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine.|A|G|108|36.0|Non-synonymous|Cryopreserved
1005355|IGL00390|14|26603054|V->F|1.0|Probably damaging|MGI:2442980|Fam116a|family with sequence similarity 116, member A [Source:MGI Symbol;Acc:MGI:2442980]|Heterozygous||G|T|104|37.0|Non-synonymous|Cryopreserved
1005356|IGL00390|13|38220764|D->G|0.56|Possibly damaging|MGI:1915047|Snrnp48|small nuclear ribonucleoprotein 48 (U11/U12) [Source:MGI Symbol;Acc:MGI:1915047]|Heterozygous||A|G|99|34.0|Non-synonymous|Cryopreserved
1005357|IGL00390|2|76814290|V->A|0.9|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|96|35.5|Non-synonymous|Cryopreserved
1005358|IGL00390|8|68346051|S->P|1.0|Probably damaging|MGI:1919531|Sh2d4a|SH2 domain containing 4A [Source:MGI Symbol;Acc:MGI:1919531]|Heterozygous|Mice homozygous for a knock-out allele display normal T cell development, homeostasis, proliferation, and function.|T|C|92|36.0|Non-synonymous|Cryopreserved
1005359|IGL00390|6|87845700|R->H|0.99|Probably damaging|MGI:88431|Cnbp|cellular nucleic acid binding protein [Source:MGI Symbol;Acc:MGI:88431]|Heterozygous||C|T|90|35.0|Non-synonymous|Cryopreserved
1005360|IGL00390|13|23696049|L->F|0.58|Possibly damaging|MGI:1888530|Hist1h1t|histone cluster 1, H1t [Source:MGI Symbol;Acc:MGI:1888530]|Heterozygous|Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility.|C|T|89|35.0|Non-synonymous|Cryopreserved
1005361|IGL00390|1|171938099|H->Q|0.48|Possibly damaging|MGI:1353620|Slamf6|SLAM family member 6 [Source:MGI Symbol;Acc:MGI:1353620]|Heterozygous|Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity.|T|A|85|37.0|Non-synonymous|Cryopreserved
1005362|IGL00390|4|63993147|S->T|0.79|Possibly damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|A|T|78|39.0|Non-synonymous|Cryopreserved
1005363|IGL00390|15|101628134|S->G||Benign|MGI:3646939|Gm5414|predicted gene 5414 [Source:MGI Symbol;Acc:MGI:3646939]|Heterozygous||T|C|77|36.0|Non-synonymous|Cryopreserved
1005364|IGL00390|7|122078472|E->G|1.0|Probably damaging|MGI:107301|Ubfd1|ubiquitin family domain containing 1 [Source:MGI Symbol;Acc:MGI:107301]|Heterozygous||A|G|75|37.0|Non-synonymous|Cryopreserved
1005365|IGL00390|6|15438019|Stop->R||N/A|MGI:2148705|Foxp2|forkhead box P2 [Source:MGI Symbol;Acc:MGI:2148705]|Heterozygous|Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity.|T|A|74|37.5|Non-synonymous|Cryopreserved
1005366|IGL00390|15|27736489|D->G|0.31|Benign|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|T|C|71|36.0|Non-synonymous|Cryopreserved
1005367|IGL00390|14|93886475|V->G||N/A|MGI:1306801|Pcdh9|protocadherin 9 [Source:MGI Symbol;Acc:MGI:1306801]|Heterozygous||A|C|70|36.5|Non-synonymous|Cryopreserved
1005368|IGL00390|3|152276690|T->K|0.03|Benign|MGI:1924567|Fam73a|family with sequence similarity 73, member A [Source:MGI Symbol;Acc:MGI:1924567]|Heterozygous||G|T|67|35.0|Non-synonymous|Cryopreserved
1005369|IGL00390|13|56804540|G->D|1.0|Probably damaging|MGI:1349470|Trpc7|transient receptor potential cation channel, subfamily C, member 7 [Source:MGI Symbol;Acc:MGI:1349470]|Heterozygous||C|T|66|35.0|Non-synonymous|Cryopreserved
1005371|IGL00390|1|58240775|R->Stop||N/A|MGI:1919122|Aox4|aldehyde oxidase 4 [Source:MGI Symbol;Acc:MGI:1919122]|Heterozygous|Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment.|C|T|65|36.0|Non-synonymous|Cryopreserved
1005373|IGL00390|8|109562691|I->V||Benign|MGI:1927617|Dhx38|DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Source:MGI Symbol;Acc:MGI:1927617]|Heterozygous||T|C|65|35.0|Non-synonymous|Cryopreserved
1005374|IGL00390|6|77244235|N->S|1.0|Probably damaging|MGI:88275, MGI:2389173|Ctnna2,lrrtm1|leucine rich repeat transmembrane neuronal 1 [Source:MGI Symbol;Acc:MGI:2389173],catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with grossly normal brain morphology. Mice homozygous for another knock-out allele exhibit impaired cognitive function and altered hippocampal synapse morphology.,Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|A|G|62|35.0|Non-synonymous|Cryopreserved
1005375|IGL00390|9|14464219|D->E|0.01|Benign|MGI:3606484|Kdm4d|lysine (K)-specific demethylase 4D [Source:MGI Symbol;Acc:MGI:3606484]|Heterozygous||A|T|61|35.0|Non-synonymous|Cryopreserved
1005376|IGL00390|15|97793935|E->D||Benign|MGI:1891835|Hdac7|histone deacetylase 7 [Source:MGI Symbol;Acc:MGI:1891835]|Heterozygous|Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects.|T|A|58|35.0|Non-synonymous|Cryopreserved
1005377|IGL00390|17|3415028|D->V|0.03|Benign|MGI:1344338|Tiam2|T-cell lymphoma invasion and metastasis 2 [Source:MGI Symbol;Acc:MGI:1344338]|Heterozygous||A|T|54|35.0|Non-synonymous|Cryopreserved
1005378|IGL00390|2|112629785|D->N|0.18|Benign|MGI:1921518|Aven|apoptosis, caspase activation inhibitor [Source:MGI Symbol;Acc:MGI:1921518]|Heterozygous||G|A|53|37.0|Non-synonymous|Cryopreserved
1005379|IGL00390|1|82682301|V->A||Unknown|MGI:104688|Col4a3|collagen, type IV, alpha 3 [Source:MGI Symbol;Acc:MGI:104688]|Heterozygous|Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds are mildly increased across all test frequencies.|T|C|52|34.5|Non-synonymous|Cryopreserved
1005380|IGL00390|9|45683672|D->G|1.0|Probably damaging|MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule-like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|A|G|48|35.0|Non-synonymous|Cryopreserved
1005381|IGL00390|10|86759158|Y->C||Benign|MGI:2387653|Bc030307|cDNA sequence BC030307 [Source:MGI Symbol;Acc:MGI:2387653]|Heterozygous||A|G|47|38.0|Non-synonymous|Cryopreserved
1005382|IGL00390|17|80183280|T->A|0.09|Benign|MGI:2442420|Galm|galactose mutarotase [Source:MGI Symbol;Acc:MGI:2442420]|Heterozygous||A|G|47|37.0|Non-synonymous|Cryopreserved
1005383|IGL00390|9|44505179|D->G|0.36|Benign|MGI:1933114|Bcl9l|B-cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]|Heterozygous|Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.|A|G|47|35.0|Non-synonymous|Cryopreserved
1005384|IGL00390|4|134529200|T->I|0.01|Benign|MGI:1924074|Fam54b|family with sequence similarity 54, member B [Source:MGI Symbol;Acc:MGI:1924074]|Heterozygous||G|A|45|38.0|Non-synonymous|Cryopreserved
1005385|IGL00390|9|57258246|C->S|0.83|Possibly damaging|MGI:1921461|1700017b05rik|RIKEN cDNA 1700017B05 gene [Source:MGI Symbol;Acc:MGI:1921461]|Heterozygous||A|T|44|36.0|Non-synonymous|Cryopreserved
1005386|IGL00390|11|60476992|I->V|0.54|Possibly damaging|MGI:1261811|Myo15|myosin XV [Source:MGI Symbol;Acc:MGI:1261811]|Heterozygous|Mutations in this gene result in profound deafness and neurological behavior.|A|G|43|35.0|Non-synonymous|Cryopreserved
1005388|IGL00390|2|174345738|D->G|0.98|Probably damaging|MGI:95777|Gnas|GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Source:MGI Symbol;Acc:MGI:95777]|Heterozygous|Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.|A|G|43|35.0|Non-synonymous|Cryopreserved
1005389|IGL00390|17|71849939|I->V|0.03|Benign|MGI:1919100|Clip4|CAP-GLY domain containing linker protein family, member 4 [Source:MGI Symbol;Acc:MGI:1919100]|Heterozygous||A|G|42|38.5|Non-synonymous|Cryopreserved
1005390|IGL00390|10|127239196|V->E|0.02|Benign|MGI:109564|Kif5a|kinesin family member 5A [Source:MGI Symbol;Acc:MGI:109564]|Heterozygous|Homozygotes for a targeted null mutation die at birth. Most mutants for a postnatal conditional knockout allele exhibit fatal seizures around 3 weeks of age, but about 1/4 survive to 3 months or older.|A|T|41|35.0|Non-synonymous|Cryopreserved
1005391|IGL00390|14|52231532|G->V|0.87|Possibly damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|C|A|40|38.0|Non-synonymous|Cryopreserved
1005392|IGL00390|1|71263632|I->V||Benign|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|C|39|38.0|Non-synonymous|Cryopreserved
1005393|IGL00390|4|137559335|T->I|1.0|Probably damaging|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|C|T|37|35.0|Non-synonymous|Cryopreserved
1005394|IGL00390|13|76122665|C->Y||N/A|MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||G|A|35|37.0|Non-synonymous|Cryopreserved
1005395|IGL00390|1|74434887|S->P|1.0|Probably damaging|MGI:98930|Vil1|villin 1 [Source:MGI Symbol;Acc:MGI:98930]|Heterozygous|Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed.|T|C|32|35.5|Non-synonymous|Cryopreserved
1005396|IGL00390|8|108793594|H->Q||Benign|MGI:99948|Zfhx3|zinc finger homeobox 3 [Source:MGI Symbol;Acc:MGI:99948]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal pituitary development.|T|A|30|35.0|Non-synonymous|Cryopreserved
1005397|IGL00390|19|6318367|S->P|1.0|Probably damaging|MGI:2652845|Cdc42bpg|CDC42 binding protein kinase gamma (DMPK-like) [Source:MGI Symbol;Acc:MGI:2652845]|Heterozygous||T|C|29|35.0|Non-synonymous|Cryopreserved
1005398|IGL00390|11|121513096|S->T||Benign|MGI:1919686, MGI:2442210|Tbcd,zfp750|zinc finger protein 750 [Source:MGI Symbol;Acc:MGI:2442210],tubulin-specific chaperone d [Source:MGI Symbol;Acc:MGI:1919686]|Heterozygous||A|T|26|35.0|Non-synonymous|Cryopreserved
1005399|IGL00390|15|74721416|V->A|0.5|Possibly damaging|MGI:1925301|4930572j05rik|RIKEN cDNA 4930572J05 gene [Source:MGI Symbol;Acc:MGI:1925301]|Heterozygous||T|C|25|32.0|Non-synonymous|Cryopreserved
1005400|IGL00390|9|62912855|T->A||Benign|MGI:1913125|Pias1|protein inhibitor of activated STAT 1 [Source:MGI Symbol;Acc:MGI:1913125]|Heterozygous|Homozygous null mice display partial perinatal lethality, reduced body size, decreased susceptibility to viral infection, and increased susceptibility to bacterial infection and LPS-induced endotoxin shock.|T|C|19|37.0|Non-synonymous|Cryopreserved
1005401|IGL00390|10|61696218|K->N|1.0|Probably damaging|MGI:1919017|Tysnd1|trypsin domain containing 1 [Source:MGI Symbol;Acc:MGI:1919017]|Heterozygous||G|T|13|35.0|Non-synonymous|Cryopreserved
1005402|IGL00390|3|136670869|P->H|0.22|Benign|MGI:107164|Ppp3ca|protein phosphatase 3, catalytic subunit, alpha isoform [Source:MGI Symbol;Acc:MGI:107164]|Heterozygous|Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers.|C|A|12|34.5|Non-synonymous|Cryopreserved
1005404|IGL00390|11|73375007|Q->L||Benign|MGI:3030210|Olfr376|olfactory receptor 376 [Source:MGI Symbol;Acc:MGI:3030210]|Heterozygous||A|T|10|40.0|Non-synonymous|Cryopreserved
1005405|IGL00390|19|3852385|E->K||N/A|MGI:107760|Chka|choline kinase alpha [Source:MGI Symbol;Acc:MGI:107760]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality between E3.5 and E7.5.|G|A|10|35.0|Non-synonymous|Cryopreserved
1005417|IGL00390|5|90760523|Disrupted splicing||N/A|MGI:1096868|Cxcl5|chemokine (C-X-C motif) ligand 5 [Source:MGI Symbol;Acc:MGI:1096868]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased chemokine scavenging, decrease suscetibility to bacterial infection, and altered neutrophil physiology.|T|C|63|36.0|Splice|Cryopreserved
1005418|IGL00390|4|41195328|Disrupted splicing||N/A|MGI:1916176|Ubap2|ubiquitin-associated protein 2 [Source:MGI Symbol;Acc:MGI:1916176]|Heterozygous||G|A|60|34.0|Splice|Cryopreserved
1005419|IGL00390|18|58095240|Disrupted splicing||N/A|MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|G|A|46|37.0|Splice|Cryopreserved
1005420|IGL00390|7|120858664|Disrupted splicing||N/A|MGI:1195261|Eef2k|eukaryotic elongation factor-2 kinase [Source:MGI Symbol;Acc:MGI:1195261]|Heterozygous|Mice homozygous for a knock-out allele exhibit a resistance to resveratrol inhibition of injury-induced choroidal neovascularization.|T|C|40|35.0|Splice|Cryopreserved
1005421|IGL00390|9|70316589|Disrupted splicing||N/A|MGI:106621|Myo1e|myosin IE [Source:MGI Symbol;Acc:MGI:106621]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects.|T|C|39|37.0|Splice|Cryopreserved
1005425|IGL00390|3|79612061|Disrupted splicing||N/A|MGI:106100|Etfdh|electron transferring flavoprotein, dehydrogenase [Source:MGI Symbol;Acc:MGI:106100]|Heterozygous||A|T|28|37.0|Splice|Cryopreserved
1034438|IGL00391|8|43625629|F->L|0.99|Probably damaging|MGI:3647273|Gm5346|predicted gene 5346 [Source:MGI Symbol;Acc:MGI:3647273]|Heterozygous||A|T|181|36.0|Non-synonymous|Cryopreserved
1034439|IGL00391|5|81724224|V->M|0.97|Probably damaging|MGI:2441950|Lphn3|latrophilin 3 [Source:MGI Symbol;Acc:MGI:2441950]|Heterozygous||G|A|130|36.5|Non-synonymous|Cryopreserved
1034440|IGL00391|10|108198848|N->D|1.0|Probably damaging|MGI:1309528|Ppp1r12a|protein phosphatase 1, regulatory (inhibitor) subunit 12A [Source:MGI Symbol;Acc:MGI:1309528]|Heterozygous|Homozygous null mice die before E7.5.|A|G|121|39.0|Non-synonymous|Cryopreserved
1034441|IGL00391|3|144915561|V->A|1.0|Probably damaging|MGI:2139790|Ai747448|expressed sequence AI747448 [Source:MGI Symbol;Acc:MGI:2139790]|Heterozygous||A|G|111|35.0|Non-synonymous|Cryopreserved
1034442|IGL00391|9|124124406|D->E|0.01|Benign|MGI:107182|Ccr5|chemokine (C-C motif) receptor 5 [Source:MGI Symbol;Acc:MGI:107182]|Heterozygous|Mice that are homozygous for null alleles have leukocytes with defective migration and adhesion, are more susceptibility to fungal & bacterial infections, have increased length of allograft survival, and have decreased susceptibility to endotoxin shock.|T|A|108|37.0|Non-synonymous|Cryopreserved
1034443|IGL00391|10|45317826|D->G|0.63|Possibly damaging|MGI:1930153|Popdc3|popeye domain containing 3 [Source:MGI Symbol;Acc:MGI:1930153]|Heterozygous||A|G|75|37.0|Non-synonymous|Cryopreserved
1034444|IGL00391|5|92579663|E->D|0.36|Benign|MGI:2686227|Fam47e|family with sequence similarity 47, member E [Source:MGI Symbol;Acc:MGI:2686227]|Heterozygous||A|C|73|35.0|Non-synonymous|Cryopreserved
1034447|IGL00391|5|30375623|C->R|1.0|Probably damaging|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|G|64|35.0|Non-synonymous|Cryopreserved
1034449|IGL00391|1|107606984|S->G||Benign|MGI:894657|Serpinb8|serine (or cysteine) peptidase inhibitor, clade B, member 8 [Source:MGI Symbol;Acc:MGI:894657]|Heterozygous||A|G|54|37.5|Non-synonymous|Cryopreserved
1034452|IGL00391|3|117671943|N->I|0.03|Benign|MGI:1923019|4833424o15rik|RIKEN cDNA 4833424O15 gene [Source:MGI Symbol;Acc:MGI:1923019]|Heterozygous||A|T|48|35.0|Non-synonymous|Cryopreserved
1034453|IGL00391|1|188916061|E->G|1.0|Probably damaging|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) homolog (human) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|A|G|44|36.0|Non-synonymous|Cryopreserved
1034454|IGL00391|3|103821542|T->A|0.04|Benign|MGI:1337130|Ap4b1|adaptor-related protein complex AP-4, beta 1 [Source:MGI Symbol;Acc:MGI:1337130]|Heterozygous|Mice homozygous for a null allele exhibit poor rotarod performance.|A|G|42|38.0|Non-synonymous|Cryopreserved
1034455|IGL00391|2|76590439|C->Y|1.0|Probably damaging|MGI:2139014|Osbpl6|oxysterol binding protein-like 6 [Source:MGI Symbol;Acc:MGI:2139014]|Heterozygous||G|A|39|36.0|Non-synonymous|Cryopreserved
1034456|IGL00391|8|94850517|K->M|1.0|Probably damaging|MGI:1915164|Coq9|coenzyme Q9 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1915164]|Heterozygous||A|T|39|38.0|Non-synonymous|Cryopreserved
1034457|IGL00391|4|16006439|Y->C|1.0|Probably damaging|MGI:2384798|Osgin2|oxidative stress induced growth inhibitor family member 2 [Source:MGI Symbol;Acc:MGI:2384798]|Heterozygous||T|C|38|36.0|Non-synonymous|Cryopreserved
1034458|IGL00391|4|21948725|K->E|1.0|Probably damaging|MGI:1923382|6230409e13rik|RIKEN cDNA 6230409E13 gene [Source:MGI Symbol;Acc:MGI:1923382]|Heterozygous||A|G|37|35.0|Non-synonymous|Cryopreserved
1034459|IGL00391|17|29674262|M->T|0.08|Benign|MGI:1921407|Ftsjd2|FtsJ methyltransferase domain containing 2 [Source:MGI Symbol;Acc:MGI:1921407]|Heterozygous||T|C|35|38.0|Non-synonymous|Cryopreserved
1034460|IGL00391|1|86386471|R->C|0.95|Possibly damaging|MGI:1341898|Nmur1|neuromedin U receptor 1 [Source:MGI Symbol;Acc:MGI:1341898]|Heterozygous|Homozygous null mice are healthy and viable.|G|A|29|36.0|Non-synonymous|Cryopreserved
1034461|IGL00391|8|25057327|V->A|0.96|Probably damaging|MGI:1928144|Plekha2|pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2 [Source:MGI Symbol;Acc:MGI:1928144]|Heterozygous|Mice homozygous for a knock-in allele are viable.|A|G|23|36.0|Non-synonymous|Cryopreserved
1034462|IGL00391|5|33855733|D->E|0.99|Probably damaging|MGI:1276574|Whsc1|Wolf-Hirschhorn syndrome candidate 1 (human) [Source:MGI Symbol;Acc:MGI:1276574]|Heterozygous|Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.|T|G|14|40.0|Non-synonymous|Cryopreserved
1034463|IGL00391|7|107210210|S->Stop||N/A|MGI:1923822|Rbmxl2|RNA binding motif protein, X-linked-like 2 [Source:MGI Symbol;Acc:MGI:1923822]|Heterozygous||C|A|10|34.0|Non-synonymous|Cryopreserved
1034467|IGL00391|4|129322875|Disrupted splicing||N/A|MGI:1194912|Rbbp4|retinoblastoma binding protein 4 [Source:MGI Symbol;Acc:MGI:1194912]|Heterozygous||T|A|71|37.0|Splice|Cryopreserved
1034468|IGL00391|6|119337933|Disrupted splicing||N/A|MGI:2442632|Cacna2d4|calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:MGI Symbol;Acc:MGI:2442632]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction.|T|C|56|36.0|Splice|Cryopreserved
1034469|IGL00391|18|32021556|Disrupted splicing||N/A|MGI:107709|Myo7b|myosin VIIB [Source:MGI Symbol;Acc:MGI:107709]|Heterozygous||A|C|40|37.0|Splice|Cryopreserved
1034470|IGL00391|19|7619266|Disrupted splicing||N/A|MGI:1913977|Hrasls5|HRAS-like suppressor family, member 5 [Source:MGI Symbol;Acc:MGI:1913977]|Heterozygous||A|T|40|36.0|Splice|Cryopreserved
1063383|IGL00392|13|24094491|T->I|0.97|Probably damaging|MGI:1915982|Lrrc16a|leucine rich repeat containing 16A [Source:MGI Symbol;Acc:MGI:1915982]|Heterozygous||G|A|209|36.0|Non-synonymous|Cryopreserved
1063384|IGL00392|19|37009702|D->V|1.0|Probably damaging|MGI:2147538|Btaf1|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, (Mot1 homolog, S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147538]|Heterozygous||A|T|186|35.0|Non-synonymous|Cryopreserved
1063385|IGL00392|2|69771984|H->R|0.53|Possibly damaging|MGI:1923100|4930578n16rik|RIKEN cDNA 4930578N16 gene [Source:MGI Symbol;Acc:MGI:1923100]|Heterozygous||T|C|142|37.0|Non-synonymous|Cryopreserved
1063386|IGL00392|10|27188265|K->R||Benign|MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|T|C|126|38.0|Non-synonymous|Cryopreserved
1063387|IGL00392|10|24645427|I->F|0.57|Possibly damaging|MGI:97370|Enpp1|ectonucleotide pyrophosphatase/phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:97370]|Heterozygous|Mice homozygous for a spontaneous allele or knock-out allele exhibit calcification of articular and intervertebral joints, hypercalcification of osteoblasts, and calcinosis.|T|A|122|37.0|Non-synonymous|Cryopreserved
1063388|IGL00392|4|43240285|R->W|0.9|Possibly damaging|MGI:1342278|Unc13b|unc-13 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:1342278]|Heterozygous|Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures.|C|T|109|35.0|Non-synonymous|Cryopreserved
1063389|IGL00392|5|150541240|T->A||Benign|MGI:109337|Brca2|breast cancer 2 [Source:MGI Symbol;Acc:MGI:109337]|Heterozygous|Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas.|A|G|84|37.0|Non-synonymous|Cryopreserved
1063390|IGL00392|17|65983227|V->E||N/A|MGI:1914357|Ankrd12|ankyrin repeat domain 12 [Source:MGI Symbol;Acc:MGI:1914357]|Heterozygous||A|T|81|37.0|Non-synonymous|Cryopreserved
1063391|IGL00392|17|74446534|R->G|0.98|Probably damaging|MGI:3036243|Nlrc4|NLR family, CARD domain containing 4 [Source:MGI Symbol;Acc:MGI:3036243]|Heterozygous||T|C|80|37.0|Non-synonymous|Cryopreserved
1063392|IGL00392|1|194800568|D->G|1.0|Probably damaging|MGI:107684|Plxna2|plexin A2 [Source:MGI Symbol;Acc:MGI:107684]|Heterozygous|Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.|A|G|78|36.0|Non-synonymous|Cryopreserved
1063394|IGL00392|15|34402856|N->S|0.01|Benign|MGI:109613|Matn2|matrilin 2 [Source:MGI Symbol;Acc:MGI:109613]|Heterozygous|Homozygous null mice are healthy and fertile with no obvious abnormalities.|A|G|71|35.0|Non-synonymous|Cryopreserved
1063395|IGL00392|7|81078009|Y->H|0.86|Possibly damaging|MGI:2151224|Alpk3|alpha-kinase 3 [Source:MGI Symbol;Acc:MGI:2151224]|Heterozygous||T|C|71|37.0|Non-synonymous|Cryopreserved
1063396|IGL00392|13|9493108|D->V|0.55|Possibly damaging|MGI:1920179|Dip2c|DIP2 disco-interacting protein 2 homolog C (Drosophila) [Source:MGI Symbol;Acc:MGI:1920179]|Heterozygous||A|T|63|38.0|Non-synonymous|Cryopreserved
1063397|IGL00392|2|165112601|Y->H|1.0|Probably damaging|MGI:1341843|Cdh22|cadherin 22 [Source:MGI Symbol;Acc:MGI:1341843]|Heterozygous||A|G|62|34.0|Non-synonymous|Cryopreserved
1063399|IGL00392|14|20693203|S->R|0.64|Possibly damaging|MGI:1919746|Sec24c|Sec24 related gene family, member C (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919746]|Heterozygous||C|A|57|37.0|Non-synonymous|Cryopreserved
1063400|IGL00392|4|139288947|I->T|0.03|Benign|MGI:104652|Capzb|capping protein (actin filament) muscle Z-line, beta [Source:MGI Symbol;Acc:MGI:104652]|Heterozygous||T|C|57|35.0|Non-synonymous|Cryopreserved
1063401|IGL00392|9|37408229|F->I|1.0|Probably damaging|MGI:1921394|Robo4|roundabout homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921394]|Heterozygous||T|A|57|34.0|Non-synonymous|Cryopreserved
1063402|IGL00392|7|44216504|W->R|0.03|Benign|MGI:892020|Klk1b5|kallikrein 1-related peptidase b5 [Source:MGI Symbol;Acc:MGI:892020]|Heterozygous||T|A|53|36.0|Non-synonymous|Cryopreserved
1063403|IGL00392|19|6081107|R->L|1.0|Probably damaging|MGI:1891017|Zfpl1|zinc finger like protein 1 [Source:MGI Symbol;Acc:MGI:1891017]|Heterozygous||C|A|52|35.0|Non-synonymous|Cryopreserved
1063405|IGL00392|11|106265904|D->G|1.0|Probably damaging|MGI:1933621|Smarcd2|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Source:MGI Symbol;Acc:MGI:1933621]|Heterozygous||T|C|47|37.0|Non-synonymous|Cryopreserved
1063406|IGL00392|19|45940488|H->P|0.02|Benign|MGI:1918867|9130011e15rik|RIKEN cDNA 9130011E15 gene [Source:MGI Symbol;Acc:MGI:1918867]|Heterozygous||T|G|46|38.0|Non-synonymous|Cryopreserved
1063407|IGL00392|2|24443132|Y->C|1.0|Probably damaging|MGI:97492|Pax8|paired box gene 8 [Source:MGI Symbol;Acc:MGI:97492]|Heterozygous|Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.|T|C|46|35.0|Non-synonymous|Cryopreserved
1063408|IGL00392|10|118859844|D->G|1.0|Probably damaging|MGI:1330301|Dyrk2|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 [Source:MGI Symbol;Acc:MGI:1330301]|Heterozygous||T|C|39|35.0|Non-synonymous|Cryopreserved
1063409|IGL00392|18|21084186|K->Stop||N/A|MGI:96964|Mep1b|meprin 1 beta [Source:MGI Symbol;Acc:MGI:96964]|Heterozygous|Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal.|A|T|39|36.0|Non-synonymous|Cryopreserved
1063410|IGL00392|15|85931345|Q->L|0.04|Benign|MGI:1100883|Celsr1|cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1100883]|Heterozygous|Both heterozygous and homozygous mutant mice show an inner ear defect characterized by the disorganization of hair cells. Additionally, homozygous mutant mice exhibit severe neural tube defects and impaired lung branching morphogenesis.|T|A|38|34.0|Non-synonymous|Cryopreserved
1063411|IGL00392|2|181195818|D->G||Benign|MGI:99683|Ptk6|PTK6 protein tyrosine kinase 6 [Source:MGI Symbol;Acc:MGI:99683]|Heterozygous|Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation.|T|C|32|35.0|Non-synonymous|Cryopreserved
1063413|IGL00392|X|73799874|P->T|0.95|Possibly damaging|MGI:2443483|Pdzd4|PDZ domain containing 4 [Source:MGI Symbol;Acc:MGI:2443483]|Heterozygous||G|T|13|35.0|Non-synonymous|Cryopreserved
1063414|IGL00392|15|33302472|M->I|0.99|Probably damaging|MGI:1889205|Pgcp|plasma glutamate carboxypeptidase [Source:MGI Symbol;Acc:MGI:1889205]|Heterozygous||G|T|11|39.0|Non-synonymous|Cryopreserved
1063424|IGL00392|1|165896590|Disrupted splicing||N/A|MGI:101898|Pou2f1|POU domain, class 2, transcription factor 1 [Source:MGI Symbol;Acc:MGI:101898]|Heterozygous|Homozygous mutation of this gene results in prenatal lethality, with earlier lethality on either a 129/Sv or C57BL/6 background than a mixed 129/Sv and C57BL/6 background. Embryos show decreased erythropoiesis and partial penetrance of small lens size.|A|G|116|39.0|Splice|Cryopreserved
1063425|IGL00392|5|52157582|Disrupted splicing||N/A|MGI:1099786|Dhx15|DEAH (Asp-Glu-Ala-His) box polypeptide 15 [Source:MGI Symbol;Acc:MGI:1099786]|Heterozygous||A|T|97|35.0|Splice|Cryopreserved
1063426|IGL00392|2|90751622|Disrupted splicing||N/A|MGI:1860513|Fnbp4|formin binding protein 4 [Source:MGI Symbol;Acc:MGI:1860513]|Heterozygous||A|C|74|37.0|Splice|Cryopreserved
1063427|IGL00392|5|44007021|Disrupted splicing||N/A|MGI:1100886|Prom1|prominin 1 [Source:MGI Symbol;Acc:MGI:1100886]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology.|A|G|73|37.0|Splice|Cryopreserved
1063428|IGL00392|17|45560213|Disrupted splicing||N/A|MGI:1194908|Nfkbie|nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon [Source:MGI Symbol;Acc:MGI:1194908]|Heterozygous|Mice homozygous for disruptions of this gene display an essentially normal phenotype.|G|A|46|35.0|Splice|Cryopreserved
1063429|IGL00392|17|25876124|Disrupted splicing||N/A|MGI:1915597|0610011f06rik|RIKEN cDNA 0610011F06 gene [Source:MGI Symbol;Acc:MGI:1915597]|Heterozygous||T|C|43|37.0|Splice|Cryopreserved
1063430|IGL00392|5|43724380|Disrupted splicing||N/A|MGI:1924487|Cc2d2a|coiled-coil and C2 domain containing 2A [Source:MGI Symbol;Acc:MGI:1924487]|Heterozygous||A|G|30|37.5|Splice|Cryopreserved
1092654|IGL00393|13|114997000|Y->F||N/A|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|T|A|117|34.0|Non-synonymous|Cryopreserved
1092655|IGL00393|3|155091492|E->V|0.77|Possibly damaging|MGI:1922790|Fpgt|fucose-1-phosphate guanylyltransferase [Source:MGI Symbol;Acc:MGI:1922790]|Heterozygous||T|A|113|33.0|Non-synonymous|Cryopreserved
1092656|IGL00393|14|68642114|S->P||Benign|MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||A|G|107|36.0|Non-synonymous|Cryopreserved
1092657|IGL00393|13|32127030|I->V|0.82|Possibly damaging|MGI:1891112|Gmds|GDP-mannose 4, 6-dehydratase [Source:MGI Symbol;Acc:MGI:1891112]|Heterozygous||T|C|106|37.0|Non-synonymous|Cryopreserved
1092658|IGL00393|15|68170166|I->V|0.4|Benign|MGI:2681865|Zfat|zinc finger and AT hook domain containing [Source:MGI Symbol;Acc:MGI:2681865]|Heterozygous||T|C|68|39.0|Non-synonymous|Cryopreserved
1092661|IGL00393|12|54003560|S->P|0.92|Possibly damaging|MGI:1351610|Npas3|neuronal PAS domain protein 3 [Source:MGI Symbol;Acc:MGI:1351610]|Heterozygous|Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.|T|C|58|36.0|Non-synonymous|Cryopreserved
1092662|IGL00393|6|132847406|A->T||Benign|MGI:2681264|Tas2r123|taste receptor, type 2, member 123 [Source:MGI Symbol;Acc:MGI:2681264]|Heterozygous||G|A|58|38.0|Non-synonymous|Cryopreserved
1092663|IGL00393|10|121551272|E->G|0.53|Possibly damaging|MGI:1929658|Tbk1|TANK-binding kinase 1 [Source:MGI Symbol;Acc:MGI:1929658]|Heterozygous|Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS.|T|C|51|36.0|Non-synonymous|Cryopreserved
1092664|IGL00393|3|52345383|S->R|1.0|Probably damaging|MGI:1890077|Foxo1|forkhead box O1 [Source:MGI Symbol;Acc:MGI:1890077]|Heterozygous|Homozygous null embryos die at E10.5-E11.5 from vasculature defects. Heterozygote null mice have slightly elevated glycogen levels. Conditionally targeted homozygotes display hemangiomas or defects in na�ve T cell homeostasis depending on the targeted cell type.|T|G|49|37.0|Non-synonymous|Cryopreserved
1092665|IGL00393|4|74074120|I->V|0.97|Probably damaging|MGI:2442466|Frmd3|FERM domain containing 3 [Source:MGI Symbol;Acc:MGI:2442466]|Heterozygous||A|G|49|38.0|Non-synonymous|Cryopreserved
1092666|IGL00393|13|31626858|P->Q|0.96|Probably damaging|MGI:1347479|Foxf2|forkhead box F2 [Source:MGI Symbol;Acc:MGI:1347479]|Heterozygous|Homozygous mutant mice do not live through the first day of life due to an inability to suckle, which is secondary to cleft palate and tongue abnormalities.|C|A|44|33.5|Non-synonymous|Cryopreserved
1092668|IGL00393|19|34938260|V->A|0.97|Probably damaging|MGI:2444576|Kif20b|kinesin family member 20B [Source:MGI Symbol;Acc:MGI:2444576]|Heterozygous||T|C|43|38.0|Non-synonymous|Cryopreserved
1092669|IGL00393|7|25338374|W->R|0.7|Possibly damaging|MGI:2446294|Megf8|multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]|Heterozygous||T|A|42|35.0|Non-synonymous|Cryopreserved
1092670|IGL00393|8|109537993|R->L|0.44|Possibly damaging|MGI:1930136|Pmfbp1|polyamine modulated factor 1 binding protein 1 [Source:MGI Symbol;Acc:MGI:1930136]|Heterozygous||G|T|42|37.5|Non-synonymous|Cryopreserved
1092672|IGL00393|13|54740369|S->C|1.0|Probably damaging|MGI:1349455|Gprin1|G protein-regulated inducer of neurite outgrowth 1 [Source:MGI Symbol;Acc:MGI:1349455]|Heterozygous||T|A|38|35.0|Non-synonymous|Cryopreserved
1092673|IGL00393|11|98762928|D->G|0.2|Benign|MGI:98742|Thra|thyroid hormone receptor alpha [Source:MGI Symbol;Acc:MGI:98742]|Heterozygous|Homozygotes for a targeted null mutation show reduced growth, hypothermia, and intestinal immaturity. Other targeted mutations affect thyroid hormone status, adiposity, growth, heart rate, thermoregulation, fertility, and survival.|A|G|33|35.0|Non-synonymous|Cryopreserved
1092674|IGL00393|2|24971923|H->Q|0.99|Probably damaging|MGI:1914478|Wdr85|WD repeat domain 85 [Source:MGI Symbol;Acc:MGI:1914478]|Heterozygous||T|G|31|37.0|Non-synonymous|Cryopreserved
1092675|IGL00393|10|61225373|S->Y|1.0|Probably damaging|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||G|T|28|33.5|Non-synonymous|Cryopreserved
1092676|IGL00393|16|96315723|H->Q|0.98|Probably damaging|MGI:2136878|B3galt5|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 [Source:MGI Symbol;Acc:MGI:2136878]|Heterozygous|Homozygous mice for a targeted mutation appear normal.|C|A|26|39.0|Non-synonymous|Cryopreserved
1092677|IGL00393|1|43934187|Y->Stop||N/A|MGI:102724|Tpp2|tripeptidyl peptidase II [Source:MGI Symbol;Acc:MGI:102724]|Heterozygous|Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence.|T|A|24|34.0|Non-synonymous|Cryopreserved
1092678|IGL00393|12|28553876|R->W|0.99|Probably damaging|MGI:2136971|Allc|allantoicase [Source:MGI Symbol;Acc:MGI:2136971]|Heterozygous||G|A|24|36.0|Non-synonymous|Cryopreserved
1092679|IGL00393|7|44304774|S->P|0.58|Possibly damaging|MGI:1298219|Clec11a|C-type lectin domain family 11, member a [Source:MGI Symbol;Acc:MGI:1298219]|Heterozygous||A|G|23|31.0|Non-synonymous|Cryopreserved
1092680|IGL00393|2|119035374|R->L|1.0|Probably damaging|MGI:1918066|Rpusd2|RNA pseudouridylate synthase domain containing 2 [Source:MGI Symbol;Acc:MGI:1918066]|Heterozygous||G|T|20|34.5|Non-synonymous|Cryopreserved
1092681|IGL00393|2|33453759|T->A|0.28|Benign|MGI:1919084|Zbtb43|zinc finger and BTB domain containing 43 [Source:MGI Symbol;Acc:MGI:1919084]|Heterozygous||T|C|15|37.0|Non-synonymous|Cryopreserved
1092682|IGL00393|6|112384445|E->Stop||N/A|MGI:2137387, MGI:4418275, MGI:3042903, MGI:2155622, MGI:3526940, MGI:2151836, MGI:3664266, MGI:3589938, MGI:2443733, MGI:3045410, MGI:3655686, MGI:2680928, MGI:3526939, MGI:3573903|D630042p16rik|RIKEN cDNA D630042P16 gene [Source:MGI Symbol;Acc:MGI:2443733]|Heterozygous||C|A|12|35.5|Non-synonymous|Cryopreserved
1092683|IGL00393|9|121763474|P->T||Unknown|MGI:2670992|Zfp651|zinc finger protein 651 [Source:MGI Symbol;Acc:MGI:2670992]|Heterozygous||C|A|12|38.0|Non-synonymous|Cryopreserved
1092684|IGL00393|2|74698713|G->W|0.96|Probably damaging|MGI:96210|Hoxd9|homeobox D9 [Source:MGI Symbol;Acc:MGI:96210]|Heterozygous|Mice homozygous for a targeted mutation exhibit anterior transformation of lumbar, sacral, and caudal vertebrae with abnormal humerus morphology.|G|T|11|31.0|Non-synonymous|Cryopreserved
1092685|IGL00393|8|71713523|Y->Stop||N/A|MGI:1921265|Fcho1|FCH domain only 1 [Source:MGI Symbol;Acc:MGI:1921265]|Heterozygous||A|T|10|36.5|Non-synonymous|Cryopreserved
1092695|IGL00393|10|81635161|Disrupted splicing||N/A|MGI:1890394|Ankrd24|ankyrin repeat domain 24 [Source:MGI Symbol;Acc:MGI:1890394]|Heterozygous||A|G|131|33.0|Splice|Cryopreserved
1092696|IGL00393|5|41838173|Disrupted splicing||N/A|MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|G|65|39.0|Splice|Cryopreserved
1092697|IGL00393|14|20995112|Disrupted splicing||N/A|MGI:98927|Vcl|vinculin [Source:MGI Symbol;Acc:MGI:98927]|Heterozygous|Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart.|C|T|15|37.0|Splice|Cryopreserved
1092698|IGL00393|13|54091327|Disrupted splicing||N/A|MGI:2137677|Sfxn1|sideroflexin 1 [Source:MGI Symbol;Acc:MGI:2137677]|Heterozygous||G|T|12|37.5|Splice|Cryopreserved
1092699|IGL00393|4|140796334|Disrupted splicing||N/A|MGI:1338891|Padi3|peptidyl arginine deiminase, type III [Source:MGI Symbol;Acc:MGI:1338891]|Heterozygous||T|C|12|37.0|Splice|Cryopreserved
1121335|IGL00394|7|142303910|S->R||Unknown|MGI:1354758|Krtap5-4|keratin associated protein 5-4 [Source:MGI Symbol;Acc:MGI:1354758]|Heterozygous||A|C|209|36.0|Non-synonymous|Cryopreserved
1121336|IGL00394|3|144813627|Q->Stop||N/A|MGI:1931471|Clca2|chloride channel calcium activated 2 [Source:MGI Symbol;Acc:MGI:1931471]|Heterozygous||G|A|170|37.0|Non-synonymous|Cryopreserved
1121337|IGL00394|12|87450941|E->G|0.02|Benign|MGI:1913604|Snw1|SNW domain containing 1 [Source:MGI Symbol;Acc:MGI:1913604]|Heterozygous||T|C|155|37.0|Non-synonymous|Cryopreserved
1121338|IGL00394|11|85039265|V->A|0.96|Probably damaging|MGI:2144475|Usp32|ubiquitin specific peptidase 32 [Source:MGI Symbol;Acc:MGI:2144475]|Heterozygous||A|G|148|35.0|Non-synonymous|Cryopreserved
1121339|IGL00394|8|129061618|S->T|0.74|Possibly damaging|MGI:1921953|Ccdc7|coiled-coil domain containing 7 [Source:MGI Symbol;Acc:MGI:1921953]|Heterozygous||A|T|147|37.0|Non-synonymous|Cryopreserved
1121340|IGL00394|10|23950432|D->V|1.0|Probably damaging|MGI:3527427|Taar3|trace amine-associated receptor 3 [Source:MGI Symbol;Acc:MGI:3527427]|Heterozygous||A|T|127|34.0|Non-synonymous|Cryopreserved
1121342|IGL00394|2|76856821|E->Stop||N/A|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|C|A|98|35.0|Non-synonymous|Cryopreserved
1121343|IGL00394|15|101438431|Q->K|0.99|Probably damaging|MGI:3665486|Krt83|keratin 83 [Source:MGI Symbol;Acc:MGI:3665486]|Heterozygous||G|T|93|35.0|Non-synonymous|Cryopreserved
1121344|IGL00394|9|37661471|C->Y|1.0|Probably damaging|MGI:1918881|Panx3|pannexin 3 [Source:MGI Symbol;Acc:MGI:1918881]|Heterozygous||C|T|88|37.5|Non-synonymous|Cryopreserved
1121345|IGL00394|11|75436507|E->V|0.77|Possibly damaging|MGI:107173|Serpinf2|serine (or cysteine) peptidase inhibitor, clade F, member 2 [Source:MGI Symbol;Acc:MGI:107173]|Heterozygous|Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected.|T|A|85|36.0|Non-synonymous|Cryopreserved
1121347|IGL00394|5|115982145|I->V|0.13|Benign|MGI:105313|Cit|citron [Source:MGI Symbol;Acc:MGI:105313]|Heterozygous|Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors.|A|G|85|34.0|Non-synonymous|Cryopreserved
1121348|IGL00394|7|18794046|Y->Stop||N/A|MGI:1347252|Psg19|pregnancy specific glycoprotein 19 [Source:MGI Symbol;Acc:MGI:1347252]|Heterozygous||G|T|80|37.0|Non-synonymous|Cryopreserved
1121349|IGL00394|1|143646757|R->S|0.08|Benign|MGI:2384876, MGI:1349461|B3galt2,cdc73|cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2384876],UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1349461]|Heterozygous|Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response.,Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation.|A|C|79|38.0|Non-synonymous|Cryopreserved
1121350|IGL00394|12|55490542|Y->F|0.99|Probably damaging|MGI:104741|Nfkbia|nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha [Source:MGI Symbol;Acc:MGI:104741]|Heterozygous|Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells.|T|A|78|35.0|Non-synonymous|Cryopreserved
1121351|IGL00394|7|27878617|C->S|1.0|Probably damaging|MGI:3584526|Zfp607|zinc finger proten 607 [Source:MGI Symbol;Acc:MGI:3584526]|Heterozygous||T|A|71|37.0|Non-synonymous|Cryopreserved
1121353|IGL00394|10|18124895|R->G|1.0|Probably damaging|MGI:1196373|Reps1|RalBP1 associated Eps domain containing protein [Source:MGI Symbol;Acc:MGI:1196373]|Heterozygous||A|G|68|35.0|Non-synonymous|Cryopreserved
1121354|IGL00394|8|76909214|N->Y|0.91|Possibly damaging|MGI:99459|Nr3c2|nuclear receptor subfamily 3, group C, member 2 [Source:MGI Symbol;Acc:MGI:99459]|Heterozygous|Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration.|A|T|64|35.0|Non-synonymous|Cryopreserved
1121355|IGL00394|2|38951408|A->S|0.06|Benign|MGI:2444741|Olfml2a|olfactomedin-like 2A [Source:MGI Symbol;Acc:MGI:2444741]|Heterozygous||G|T|63|35.0|Non-synonymous|Cryopreserved
1121356|IGL00394|17|21020826|M->K|0.03|Benign|MGI:108187|Zfp160|zinc finger protein 160 [Source:MGI Symbol;Acc:MGI:108187]|Heterozygous||T|A|62|37.0|Non-synonymous|Cryopreserved
1121357|IGL00394|10|77542403|S->P|0.76|Possibly damaging|MGI:96611|Itgb2|integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]|Heterozygous|Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.|T|C|61|35.0|Non-synonymous|Cryopreserved
1121358|IGL00394|17|84691995|M->T|0.04|Benign|MGI:1914720|Abcg8|ATP-binding cassette, sub-family G (WHITE), member 8 [Source:MGI Symbol;Acc:MGI:1914720]|Heterozygous|Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels.|T|C|59|35.0|Non-synonymous|Cryopreserved
1121359|IGL00394|5|32893401|M->I|1.0|Probably damaging|MGI:2141101|Depdc5|DEP domain containing 5 [Source:MGI Symbol;Acc:MGI:2141101]|Heterozygous||G|T|59|37.0|Non-synonymous|Cryopreserved
1121360|IGL00394|7|98135764|A->T|1.0|Probably damaging|MGI:1100859|Capn5|calpain 5 [Source:MGI Symbol;Acc:MGI:1100859]|Heterozygous|Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos.|C|T|55|35.0|Non-synonymous|Cryopreserved
1121361|IGL00394|12|87163801|P->T|1.0|Probably damaging|MGI:1341859|Gstz1|glutathione transferase zeta 1 (maleylacetoacetate isomerase) [Source:MGI Symbol;Acc:MGI:1341859]|Heterozygous|Mice homozygous for disruptions in this gene have essentially normal phenotypes but do display ketoaciduria and severe sensitivity to diets high in tyrosine or phenylalanine.|C|A|53|35.0|Non-synonymous|Cryopreserved
1121362|IGL00394|8|107367514|A->S|0.88|Possibly damaging|MGI:1859333|Nfat5|nuclear factor of activated T-cells 5 [Source:MGI Symbol;Acc:MGI:1859333]|Heterozygous|Homozygous null mutation of this gene results in progressive renal atrophy and disruption of osmoprotective gene expression.|G|T|50|36.0|Non-synonymous|Cryopreserved
1121364|IGL00394|17|33593003|R->H|0.82|Possibly damaging|MGI:107711|Myo1f|myosin IF [Source:MGI Symbol;Acc:MGI:107711]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion.|G|A|45|34.0|Non-synonymous|Cryopreserved
1121365|IGL00394|5|30405216|M->V||Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|T|C|45|36.0|Non-synonymous|Cryopreserved
1121366|IGL00394|10|7705671|V->A|1.0|Probably damaging|MGI:1333883|Lats1|large tumor suppressor [Source:MGI Symbol;Acc:MGI:1333883]|Heterozygous|Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors.|T|C|44|37.5|Non-synonymous|Cryopreserved
1121367|IGL00394|14|87472182|T->K|1.0|Probably damaging|MGI:2444023|Tdrd3|tudor domain containing 3 [Source:MGI Symbol;Acc:MGI:2444023]|Heterozygous||C|A|42|35.5|Non-synonymous|Cryopreserved
1121368|IGL00394|14|30031332|N->I|0.11|Benign|MGI:1860776|Chdh|choline dehydrogenase [Source:MGI Symbol;Acc:MGI:1860776]|Heterozygous|Homozygous male mutants show reduced fertility due to reduced sperm motility caused by abnormal mitochondrial function and structures.|A|T|38|34.0|Non-synonymous|Cryopreserved
1121369|IGL00394|16|93810229|L->Q|0.14|Benign|MGI:1917278|Dopey2|dopey family member 2 [Source:MGI Symbol;Acc:MGI:1917278]|Heterozygous||T|A|38|36.0|Non-synonymous|Cryopreserved
1121370|IGL00394|11|118393982|F->S|1.0|Probably damaging|MGI:99554|Lgals3bp|lectin, galactoside-binding, soluble, 3 binding protein [Source:MGI Symbol;Acc:MGI:99554]|Heterozygous|Homozygous mutants are more susceptible to bacterial infection and overproduce IL-12, interferon-gamma and TNF-alpha.|A|G|37|35.0|Non-synonymous|Cryopreserved
1121371|IGL00394|14|52131176|D->E||Unknown|MGI:1932134|Rpgrip1|retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]|Heterozygous|Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.|T|A|37|38.0|Non-synonymous|Cryopreserved
1121372|IGL00394|18|71809090|I->V||Benign|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|T|C|36|36.0|Non-synonymous|Cryopreserved
1121373|IGL00394|8|80615134|G->E||Benign|MGI:2685641|Frem3|Fras1 related extracellular matrix protein 3 [Source:MGI Symbol;Acc:MGI:2685641]|Heterozygous||G|A|36|36.5|Non-synonymous|Cryopreserved
1121375|IGL00394|4|137594483|I->T|0.05|Benign|MGI:2158502|Usp48|ubiquitin specific peptidase 48 [Source:MGI Symbol;Acc:MGI:2158502]|Heterozygous||T|C|32|35.0|Non-synonymous|Cryopreserved
1121377|IGL00394|7|135678325|K->Stop||N/A|MGI:97813|Ptpre|protein tyrosine phosphatase, receptor type, E [Source:MGI Symbol;Acc:MGI:97813]|Heterozygous||A|T|30|35.0|Non-synonymous|Cryopreserved
1121378|IGL00394|17|23666057|L->P|1.0|Probably damaging|MGI:2388267|Ccdc64b|coiled-coil domain containing 64B [Source:MGI Symbol;Acc:MGI:2388267]|Heterozygous||T|C|26|35.0|Non-synonymous|Cryopreserved
1121379|IGL00394|11|50923258|H->L|1.0|Probably damaging|MGI:1351476|Zfp354b|zinc finger protein 354B [Source:MGI Symbol;Acc:MGI:1351476]|Heterozygous||T|A|24|38.0|Non-synonymous|Cryopreserved
1121380|IGL00394|2|122264083|N->K|0.9|Possibly damaging|MGI:98266|Sord|sorbitol dehydrogenase [Source:MGI Symbol;Acc:MGI:98266]|Heterozygous|Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains.|T|A|24|36.0|Non-synonymous|Cryopreserved
1121381|IGL00394|5|111421547|E->K|0.81|Possibly damaging|MGI:1261813|Mn1|meningioma 1 [Source:MGI Symbol;Acc:MGI:1261813]|Heterozygous|Homozygous null mice die shortly after birth due to cleft palate. Development of several bones in the skull was abnormal with completely absent alisphenoid, squamosal, and vomer bones, hypoplastic basisphenoid, pterygoid, and presphenoid bones, and thin frontal, parietal, and interparietal bones.|G|A|20|36.5|Non-synonymous|Cryopreserved
1121382|IGL00394|11|120012275|S->G||Benign|MGI:1197518|Aatk|apoptosis-associated tyrosine kinase [Source:MGI Symbol;Acc:MGI:1197518]|Heterozygous||T|C|19|34.0|Non-synonymous|Cryopreserved
1121383|IGL00394|X|99976153|P->T||Unknown|MGI:1195272|Eda|ectodysplasin-A [Source:MGI Symbol;Acc:MGI:1195272]|Heterozygous|Mutant hemizygous males and homozygous females have defects in ectodermal derivatives with absence of guard hairs, zigzags and tail hair, reduced eyelid opening, fewer vibrissae and defects of teeth and exocrine glands. Homozygous females are often sterile.|C|A|11|35.0|Non-synonymous|Cryopreserved
1121384|IGL00394|4|16013700|A->S||Benign|MGI:2384798|Osgin2|oxidative stress induced growth inhibitor family member 2 [Source:MGI Symbol;Acc:MGI:2384798]|Heterozygous||C|A|10|35.0|Non-synonymous|Cryopreserved
1121385|IGL00394|4|156225005|S->I|0.99|Probably damaging|MGI:2387630|Plekhn1|pleckstrin homology domain containing, family N member 1 [Source:MGI Symbol;Acc:MGI:2387630]|Heterozygous||C|A|10|32.5|Non-synonymous|Cryopreserved
1121386|IGL00394|7|5803291|A->D|0.91|Possibly damaging|MGI:3033470|Vmn1r63|vomeronasal 1 receptor 63 [Source:MGI Symbol;Acc:MGI:3033470]|Heterozygous||G|T|10|37.5|Non-synonymous|Cryopreserved
1121387|IGL00394|7|102973315|R->S|0.34|Benign|MGI:3030411|Olfr577|olfactory receptor 577 [Source:MGI Symbol;Acc:MGI:3030411]|Heterozygous||G|T|10|34.5|Non-synonymous|Cryopreserved
1121388|IGL00394|9|105702251|G->V|0.77|Possibly damaging|MGI:2444259|Col6a6|collagen, type VI, alpha 6 [Source:MGI Symbol;Acc:MGI:2444259]|Heterozygous||C|A|10|35.0|Non-synonymous|Cryopreserved
1121402|IGL00394|15|102347034|Disrupted splicing||N/A|MGI:2443767|Aaas|achalasia, adrenocortical insufficiency, alacrimia [Source:MGI Symbol;Acc:MGI:2443767]|Heterozygous|Homozygous null mice display female infertility, mildly decreased exploratory behavior, and decreased body weight, but have normal adrenocortical function and do not develop severe neurological abnormalities.|A|G|76|35.0|Splice|Cryopreserved
1121404|IGL00394|2|157294231|Disrupted splicing||N/A|MGI:98085|Rpn2|ribophorin II [Source:MGI Symbol;Acc:MGI:98085]|Heterozygous||A|T|56|36.0|Splice|Cryopreserved
1121405|IGL00394|16|44909469|Disrupted splicing||N/A|MGI:3042847|Cd200r2|Cd200 receptor 2 [Source:MGI Symbol;Acc:MGI:3042847]|Heterozygous||T|A|44|37.0|Splice|Cryopreserved
1121406|IGL00394|5|118242843|Disrupted splicing||N/A|MGI:2442859|Rnft2|ring finger protein, transmembrane 2 [Source:MGI Symbol;Acc:MGI:2442859]|Heterozygous||A|T|23|33.0|Splice|Cryopreserved
1150473|IGL00395|10|77945920|D->E|0.01|Benign|MGI:1351901|Trpm2|transient receptor potential cation channel, subfamily M, member 2 [Source:MGI Symbol;Acc:MGI:1351901]|Heterozygous|Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.|A|T|113|38.0|Non-synonymous|Cryopreserved
1150474|IGL00395|1|67205147|F->L|1.0|Probably damaging|MGI:891996|Cps1|carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]|Heterozygous|Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.|T|C|79|37.0|Non-synonymous|Cryopreserved
1150475|IGL00395|3|159606490|I->V|0.02|Benign|MGI:98001|Rpe65|retinal pigment epithelium 65 [Source:MGI Symbol;Acc:MGI:98001]|Heterozygous|Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium.|A|G|79|35.0|Non-synonymous|Cryopreserved
1150476|IGL00395|3|28087189|S->A|0.02|Benign|MGI:109585|Pld1|phospholipase D1 [Source:MGI Symbol;Acc:MGI:109585]|Heterozygous||T|G|78|33.0|Non-synonymous|Cryopreserved
1150477|IGL00395|10|5642480|D->G|0.12|Benign|MGI:98933|Vip|vasoactive intestinal polypeptide [Source:MGI Symbol;Acc:MGI:98933]|Heterozygous|Homozygous null mutants display abnormal circadian rhythyms with a shorter period, abnormal phase, and in 1/4 arrhythmic circadian persistence.|T|C|63|38.0|Non-synonymous|Cryopreserved
1150478|IGL00395|3|94773506|T->I|0.82|Possibly damaging|MGI:1927237|Cgn|cingulin [Source:MGI Symbol;Acc:MGI:1927237]|Heterozygous||G|A|58|38.0|Non-synonymous|Cryopreserved
1150479|IGL00395|5|134192779|F->L|0.97|Probably damaging|MGI:2149780|Gtf2ird2|GTF2I repeat domain containing 2 [Source:MGI Symbol;Acc:MGI:2149780]|Heterozygous||T|C|57|35.0|Non-synonymous|Cryopreserved
1150480|IGL00395|6|48991035|F->I|0.94|Possibly damaging|MGI:2682321|Svs1|seminal vesicle secretory protein 1 [Source:MGI Symbol;Acc:MGI:2682321]|Heterozygous||T|A|57|37.0|Non-synonymous|Cryopreserved
1150481|IGL00395|2|164819777|V->A|0.2|Benign|MGI:1914788|Zswim3|zinc finger, SWIM domain containing 3 [Source:MGI Symbol;Acc:MGI:1914788]|Heterozygous||T|C|50|36.0|Non-synonymous|Cryopreserved
1150483|IGL00395|7|105389621|L->Q|1.0|Probably damaging|MGI:1921599|Fam160a2|family with sequence similarity 160, member A2 [Source:MGI Symbol;Acc:MGI:1921599]|Heterozygous||A|T|48|34.0|Non-synonymous|Cryopreserved
1150484|IGL00395|17|78932296|M->I|0.26|Benign|MGI:109386|Cebpz|CCAAT/enhancer binding protein zeta [Source:MGI Symbol;Acc:MGI:109386]|Heterozygous||C|A|46|37.5|Non-synonymous|Cryopreserved
1150485|IGL00395|12|108157878|D->G|0.99|Probably damaging|MGI:1289184|Setd3|SET domain containing 3 [Source:MGI Symbol;Acc:MGI:1289184]|Heterozygous||T|C|45|33.0|Non-synonymous|Cryopreserved
1150487|IGL00395|2|85196221|V->A|0.15|Benign|MGI:2685197|Lrrc55|leucine rich repeat containing 55 [Source:MGI Symbol;Acc:MGI:2685197]|Heterozygous||A|G|42|34.0|Non-synonymous|Cryopreserved
1150489|IGL00395|10|109718276|S->P|1.0|Probably damaging|MGI:2183703|Nav3|neuron navigator 3 [Source:MGI Symbol;Acc:MGI:2183703]|Heterozygous||A|G|41|34.0|Non-synonymous|Cryopreserved
1150490|IGL00395|2|181198449|T->A|0.02|Benign|MGI:99683|Ptk6|PTK6 protein tyrosine kinase 6 [Source:MGI Symbol;Acc:MGI:99683]|Heterozygous|Mice homozygous for a null allele display increased villus length in the jejunum and ileum and increased villus epithelial cell proliferation.|T|C|40|34.0|Non-synonymous|Cryopreserved
1150491|IGL00395|17|31678163|T->S||Benign|MGI:88515|Cryaa|crystallin, alpha A [Source:MGI Symbol;Acc:MGI:88515]|Heterozygous|Homozygotes for a targeted null mutation have small lenses that develop progressive opacity beginning in the nucleus. Homozygotes for spontaneous or ENU-induced mutations have normal sized lenses with a white nuclear cataract by weaning age that expands progressively.|A|T|39|35.0|Non-synonymous|Cryopreserved
1150492|IGL00395|5|35612067|R->L|1.0|Probably damaging|MGI:1933156|Acox3|acyl-Coenzyme A oxidase 3, pristanoyl [Source:MGI Symbol;Acc:MGI:1933156]|Heterozygous||G|T|39|35.0|Non-synonymous|Cryopreserved
1150493|IGL00395|1|46233607|F->L||Benign|MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||T|A|36|39.0|Non-synonymous|Cryopreserved
1150494|IGL00395|10|81643433|I->T||Unknown|MGI:1890394|Ankrd24|ankyrin repeat domain 24 [Source:MGI Symbol;Acc:MGI:1890394]|Heterozygous||T|C|35|34.0|Non-synonymous|Cryopreserved
1150495|IGL00395|4|152139124|A->V|0.91|Possibly damaging|MGI:1861630|Espn|espin [Source:MGI Symbol;Acc:MGI:1861630]|Heterozygous|Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss.|G|A|31|34.0|Non-synonymous|Cryopreserved
1150496|IGL00395|15|6815708|D->G|0.05|Benign|MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|T|C|30|33.5|Non-synonymous|Cryopreserved
1150497|IGL00395|8|110514971|I->K|1.0|Probably damaging|MGI:2389007|Hydin|hydrocephalus inducing [Source:MGI Symbol;Acc:MGI:2389007]|Heterozygous|Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.|T|A|30|35.0|Non-synonymous|Cryopreserved
1150498|IGL00395|1|38209803|E->G||N/A|MGI:106927|Aff3|AF4/FMR2 family, member 3 [Source:MGI Symbol;Acc:MGI:106927]|Heterozygous||T|C|29|35.0|Non-synonymous|Cryopreserved
1150499|IGL00395|2|173158298|K->N|0.02|Benign|MGI:97501|Pck1|phosphoenolpyruvate carboxykinase 1, cytosolic [Source:MGI Symbol;Acc:MGI:97501]|Heterozygous|Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.|G|T|27|37.0|Non-synonymous|Cryopreserved
1150500|IGL00395|4|59020416|L->F|0.05|Benign|MGI:1919679|Dnajc25|DnaJ (Hsp40) homolog, subfamily C, member 25 [Source:MGI Symbol;Acc:MGI:1919679]|Heterozygous||C|T|26|38.0|Non-synonymous|Cryopreserved
1150501|IGL00395|19|3996902|I->F|0.35|Benign|MGI:1261436|Tbx10|T-box 10 [Source:MGI Symbol;Acc:MGI:1261436]|Heterozygous|Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region.|A|T|22|35.0|Non-synonymous|Cryopreserved
1150502|IGL00395|5|35280670|N->S|0.99|Probably damaging|MGI:87936|Adra2c|adrenergic receptor, alpha 2c [Source:MGI Symbol;Acc:MGI:87936]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are viable and fertile and appear grossly normal.|A|G|16|35.0|Non-synonymous|Cryopreserved
1150503|IGL00395|1|3216715|E->D|0.99|Probably damaging|MGI:3528744|Xkr4|X Kell blood group precursor related family member 4 [Source:MGI Symbol;Acc:MGI:3528744]|Heterozygous||C|A|13|38.0|Non-synonymous|Cryopreserved
1150504|IGL00395|8|88306711|L->I|1.0|Probably damaging|MGI:102891|Adcy7|adenylate cyclase 7 [Source:MGI Symbol;Acc:MGI:102891]|Heterozygous|Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors.|C|A|13|33.0|Non-synonymous|Cryopreserved
1150505|IGL00395|15|36210779|A->S|0.61|Possibly damaging|MGI:1349387|Spag1|sperm associated antigen 1 [Source:MGI Symbol;Acc:MGI:1349387]|Heterozygous||G|T|11|35.0|Non-synonymous|Cryopreserved
1150506|IGL00395|9|22376181|A->S|0.31|Benign|MGI:1920174|Anln|anillin, actin binding protein [Source:MGI Symbol;Acc:MGI:1920174]|Heterozygous||C|A|11|37.0|Non-synonymous|Cryopreserved
1150507|IGL00395|11|105967992|A->E|0.74|Possibly damaging|MGI:87874|Ace|angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 [Source:MGI Symbol;Acc:MGI:87874]|Heterozygous|Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility.|C|A|10|35.0|Non-synonymous|Cryopreserved
1150508|IGL00395|13|22278845|A->S|0.02|Benign|MGI:2159692|Vmn1r195|vomeronasal 1 receptor 195 [Source:MGI Symbol;Acc:MGI:2159692]|Heterozygous||G|T|10|37.5|Non-synonymous|Cryopreserved
1150509|IGL00395|6|57361220|F->L||Benign|MGI:2159452|Vmn1r17|vomeronasal 1 receptor 17 [Source:MGI Symbol;Acc:MGI:2159452]|Heterozygous||G|T|10|38.0|Non-synonymous|Cryopreserved
1150510|IGL00395|7|139188227|R->L||Unknown|MGI:2385336|Stk32c|serine/threonine kinase 32C [Source:MGI Symbol;Acc:MGI:2385336]|Heterozygous||C|A|10|37.5|Non-synonymous|Cryopreserved
1150521|IGL00395|15|76248765|Disrupted splicing||N/A|MGI:1913418|Grina|glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) [Source:MGI Symbol;Acc:MGI:1913418]|Heterozygous||T|C|78|35.0|Splice|Cryopreserved
1150522|IGL00395|10|57811523|Disrupted splicing||N/A|MGI:1931437|Smpdl3a|sphingomyelin phosphodiesterase, acid-like 3A [Source:MGI Symbol;Acc:MGI:1931437]|Heterozygous||T|C|50|36.0|Splice|Cryopreserved
1150523|IGL00395|10|33928168|Disrupted splicing||N/A|MGI:1919830|Zufsp|zinc finger with UFM1-specific peptidase domain [Source:MGI Symbol;Acc:MGI:1919830]|Heterozygous||A|G|45|38.0|Splice|Cryopreserved
1150524|IGL00395|15|66801421|Disrupted splicing||N/A|MGI:98733, MGI:104295|Sla,tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733],src-like adaptor [Source:MGI Symbol;Acc:MGI:104295]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.,Homozygous inactivation in this locus affects T cell development.|T|C|43|35.0|Splice|Cryopreserved
1150525|IGL00395|2|69944290|Disrupted splicing||N/A|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|A|G|41|39.0|Splice|Cryopreserved
1150527|IGL00395|11|69853577|Disrupted splicing||N/A|MGI:1930958|Tnk1|tyrosine kinase, non-receptor, 1 [Source:MGI Symbol;Acc:MGI:1930958]|Heterozygous|Mice homozygous or heterozygous for a null mutation display an increased incidence of spontaneous tumor formation.|T|C|26|35.5|Splice|Cryopreserved
1150528|IGL00395|5|135187766|Disrupted splicing||N/A|MGI:1353499|Baz1b|bromodomain adjacent to zinc finger domain, 1B [Source:MGI Symbol;Acc:MGI:1353499]|Heterozygous|Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects.|C|A|11|34.0|Splice|Cryopreserved
1179309|IGL00396|7|44595386|R->W|1.0|Probably damaging|MGI:96669|Kcnc3|potassium voltage gated channel, Shaw-related subfamily, member 3 [Source:MGI Symbol;Acc:MGI:96669]|Heterozygous|Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus.|C|T|107|37.0|Non-synonymous|Cryopreserved
1179311|IGL00396|7|90161318|D->V|1.0|Probably damaging|MGI:2385902|Picalm|phosphatidylinositol binding clathrin assembly protein [Source:MGI Symbol;Acc:MGI:2385902]|Heterozygous|Mice homozygous for different ENU-induced mutations are small and runted and display anemia of variable severity.|A|T|92|37.0|Non-synonymous|Cryopreserved
1179312|IGL00396|18|34578659|I->V|0.05|Benign|MGI:1922783|Nme5|non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) [Source:MGI Symbol;Acc:MGI:1922783]|Heterozygous||T|C|87|36.0|Non-synonymous|Cryopreserved
1179313|IGL00396|4|88392015|V->I|0.22|Benign|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||G|A|82|38.0|Non-synonymous|Cryopreserved
1179314|IGL00396|10|43022878|Y->F|1.0|Probably damaging|MGI:1924427|Sobp|sine oculis-binding protein homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924427]|Heterozygous|Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time.|T|A|73|35.0|Non-synonymous|Cryopreserved
1179315|IGL00396|4|96757947|Y->F||Benign|MGI:3650206|Gm12695|predicted gene 12695 [Source:MGI Symbol;Acc:MGI:3650206]|Heterozygous||T|A|71|38.0|Non-synonymous|Cryopreserved
1179316|IGL00396|8|10031612|Q->R|0.06|Benign|MGI:1344376|Tnfsf13b|tumor necrosis factor (ligand) superfamily, member 13b [Source:MGI Symbol;Acc:MGI:1344376]|Heterozygous|Homozygous null mice have reduced number of B cells and reduced levels of immunoglobulins.|A|G|64|37.0|Non-synonymous|Cryopreserved
1179317|IGL00396|7|30254251|T->A||Benign|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||T|C|63|37.0|Non-synonymous|Cryopreserved
1179318|IGL00396|17|43479084|E->G|0.48|Possibly damaging|MGI:96963|Mep1a|meprin 1 alpha [Source:MGI Symbol;Acc:MGI:96963]|Heterozygous||T|C|62|36.0|Non-synonymous|Cryopreserved
1179320|IGL00396|18|44007644|Y->H|1.0|Probably damaging|MGI:1919682|Spink5|serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]|Heterozygous|Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.|T|C|57|37.0|Non-synonymous|Cryopreserved
1179321|IGL00396|17|57066839|I->V|0.87|Possibly damaging|MGI:1918035|Dennd1c|DENN/MADD domain containing 1C [Source:MGI Symbol;Acc:MGI:1918035]|Heterozygous||T|C|53|38.0|Non-synonymous|Cryopreserved
1179323|IGL00396|19|30133493|S->F|0.61|Possibly damaging|MGI:1341155|Gldc|glycine decarboxylase [Source:MGI Symbol;Acc:MGI:1341155]|Heterozygous||G|A|51|38.0|Non-synonymous|Cryopreserved
1179324|IGL00396|11|87797610|N->S|0.35|Benign|MGI:97137|Mpo|myeloperoxidase [Source:MGI Symbol;Acc:MGI:97137]|Heterozygous||A|G|43|34.0|Non-synonymous|Cryopreserved
1179327|IGL00396|1|6844323|G->V|0.99|Probably damaging|MGI:2446700|St18|suppression of tumorigenicity 18 [Source:MGI Symbol;Acc:MGI:2446700]|Heterozygous||G|T|38|37.0|Non-synonymous|Cryopreserved
1179328|IGL00396|14|34822639|Q->Stop||N/A|MGI:95812|Grid1|glutamate receptor, ionotropic, delta 1 [Source:MGI Symbol;Acc:MGI:95812]|Heterozygous|Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury.|C|T|38|35.0|Non-synonymous|Cryopreserved
1179329|IGL00396|13|23250067|Y->F|1.0|Probably damaging|MGI:3649245|Vmn1r223|vomeronasal 1 receptor 223 [Source:MGI Symbol;Acc:MGI:3649245]|Heterozygous||A|T|31|38.0|Non-synonymous|Cryopreserved
1179330|IGL00396|15|9510208|V->E|0.95|Possibly damaging|MGI:96562|Il7r|interleukin 7 receptor [Source:MGI Symbol;Acc:MGI:96562]|Heterozygous||A|T|31|35.0|Non-synonymous|Cryopreserved
1179331|IGL00396|6|146621888|I->L||Benign|MGI:1914873|Tm7sf3|transmembrane 7 superfamily member 3 [Source:MGI Symbol;Acc:MGI:1914873]|Heterozygous||T|A|31|36.0|Non-synonymous|Cryopreserved
1179332|IGL00396|9|24750321|D->G|0.99|Probably damaging|MGI:1888496|Tbx20|T-box 20 [Source:MGI Symbol;Acc:MGI:1888496]|Heterozygous|Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation.|T|C|31|38.0|Non-synonymous|Cryopreserved
1179334|IGL00396|1|37875183|Y->H|1.0|Probably damaging|MGI:3645211|Lipt1|lipoyltransferase 1 [Source:MGI Symbol;Acc:MGI:3645211]|Heterozygous||T|C|29|38.0|Non-synonymous|Cryopreserved
1179335|IGL00396|14|52145836|Y->H||Unknown|MGI:1932134|Rpgrip1|retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]|Heterozygous|Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.|T|C|24|34.5|Non-synonymous|Cryopreserved
1179336|IGL00396|3|88107560|L->P||N/A|MGI:3028642|Iqgap3|IQ motif containing GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:3028642]|Heterozygous||T|C|23|38.0|Non-synonymous|Cryopreserved
1179337|IGL00396|17|46400077|S->P|0.28|Benign|MGI:1889348|Zfp318|zinc finger protein 318 [Source:MGI Symbol;Acc:MGI:1889348]|Heterozygous||T|C|15|39.0|Non-synonymous|Cryopreserved
1179338|IGL00396|4|141469012|P->Q|1.0|Probably damaging|MGI:1891706|Spen|SPEN homolog, transcriptional regulator (Drosophila) [Source:MGI Symbol;Acc:MGI:1891706]|Heterozygous|Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells.|G|T|11|30.0|Non-synonymous|Cryopreserved
1179346|IGL00396|1|110108956|Disrupted splicing||N/A|MGI:2442792|Cdh7|cadherin 7, type 2 [Source:MGI Symbol;Acc:MGI:2442792]|Heterozygous||G|A|155|39.0|Splice|Cryopreserved
1179347|IGL00396|11|82879355|Disrupted splicing||N/A|MGI:1261809|Rad51l3|RAD51-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1261809]|Heterozygous|Mice homozygous for disruptions in this gene die as embryos before E11.5.|G|T|52|38.0|Splice|Cryopreserved
1179348|IGL00396|5|51498031|Disrupted splicing||N/A|MGI:1342774|Ppargc1a|peroxisome proliferative activated receptor, gamma, coactivator 1 alpha [Source:MGI Symbol;Acc:MGI:1342774]|Heterozygous|Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping.|T|A|30|36.5|Splice|Cryopreserved
1179349|IGL00396|11|98412738|Disrupted splicing||N/A|MGI:95410|Erbb2|v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) [Source:MGI Symbol;Acc:MGI:95410]|Heterozygous|Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5.|G|T|12|31.5|Splice|Cryopreserved
1208085|IGL00397|15|77389855|T->A||Unknown|MGI:1923011|Apol7a|apolipoprotein L 7a [Source:MGI Symbol;Acc:MGI:1923011]|Heterozygous||T|C|277|38.0|Non-synonymous|Cryopreserved
1208086|IGL00397|4|64017334|I->K|0.98|Probably damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|A|T|75|37.0|Non-synonymous|Cryopreserved
1208088|IGL00397|10|120142790|Y->Stop||N/A|MGI:1921164|Irak3|interleukin-1 receptor-associated kinase 3 [Source:MGI Symbol;Acc:MGI:1921164]|Heterozygous|Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age.|A|T|57|36.0|Non-synonymous|Cryopreserved
1208089|IGL00397|10|53649157|E->G|0.21|Benign|MGI:1923156|Fam184a|family with sequence similarity 184, member A [Source:MGI Symbol;Acc:MGI:1923156]|Heterozygous||T|C|56|37.0|Non-synonymous|Cryopreserved
1208090|IGL00397|1|171025789|S->G|0.5|Possibly damaging|MGI:2179523|Fcgr4|Fc receptor, IgG, low affinity IV [Source:MGI Symbol;Acc:MGI:2179523]|Heterozygous||A|G|53|38.0|Non-synonymous|Cryopreserved
1208091|IGL00397|5|87486614|R->Stop||N/A|MGI:2149905|Ugt2a1|UDP glucuronosyltransferase 2 family, polypeptide A1 [Source:MGI Symbol;Acc:MGI:2149905]|Heterozygous||T|A|53|38.0|Non-synonymous|Cryopreserved
1208092|IGL00397|15|4941542|D->N|0.95|Possibly damaging|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||G|A|51|37.0|Non-synonymous|Cryopreserved
1208094|IGL00397|1|20523258|H->Y|1.0|Probably damaging|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|G|A|48|37.0|Non-synonymous|Cryopreserved
1208095|IGL00397|16|32274069|V->A|0.97|Probably damaging|MGI:1916826|2310010m20rik|RIKEN cDNA 2310010M20 gene [Source:MGI Symbol;Acc:MGI:1916826]|Heterozygous||T|C|47|36.0|Non-synonymous|Cryopreserved
1208096|IGL00397|19|12491875|R->Q|0.98|Probably damaging|MGI:2672905|Dtx4|deltex 4 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2672905]|Heterozygous||C|T|47|35.0|Non-synonymous|Cryopreserved
1208097|IGL00397|10|89035099|Y->H|1.0|Probably damaging|MGI:2443344|Ano4|anoctamin 4 [Source:MGI Symbol;Acc:MGI:2443344]|Heterozygous||A|G|45|36.0|Non-synonymous|Cryopreserved
1208098|IGL00397|14|76418741|I->V|0.01|Benign|MGI:109127|Tsc22d1|TSC22 domain family, member 1 [Source:MGI Symbol;Acc:MGI:109127]|Heterozygous|Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights.|A|G|45|38.0|Non-synonymous|Cryopreserved
1208099|IGL00397|9|66094431|E->K|0.67|Possibly damaging|MGI:1928395|Snx1|sorting nexin 1 [Source:MGI Symbol;Acc:MGI:1928395]|Heterozygous|Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities.|C|T|38|36.0|Non-synonymous|Cryopreserved
1208100|IGL00397|15|39846649|D->G|0.99|Probably damaging|MGI:1928679|Dpys|dihydropyrimidinase [Source:MGI Symbol;Acc:MGI:1928679]|Heterozygous||T|C|37|34.0|Non-synonymous|Cryopreserved
1208101|IGL00397|7|28155318|C->R|1.0|Probably damaging|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||T|C|37|35.0|Non-synonymous|Cryopreserved
1208102|IGL00397|5|37085406|E->Stop||N/A|MGI:1923321|Jakmip1|janus kinase and microtubule interacting protein 1 [Source:MGI Symbol;Acc:MGI:1923321]|Heterozygous||G|T|31|35.0|Non-synonymous|Cryopreserved
1208103|IGL00397|11|46676343|Y->C|1.0|Probably damaging|MGI:2159681|Timd2|T-cell immunoglobulin and mucin domain containing 2 [Source:MGI Symbol;Acc:MGI:2159681]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated inflammatory response.|T|C|30|35.0|Non-synonymous|Cryopreserved
1208105|IGL00397|3|90242831|M->T||Unknown|MGI:1916603|Creb3l4|cAMP responsive element binding protein 3-like 4 [Source:MGI Symbol;Acc:MGI:1916603]|Heterozygous|Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.|A|G|26|35.0|Non-synonymous|Cryopreserved
1208107|IGL00397|5|110187717|M->R||Benign|MGI:96958|Golga3|golgi autoantigen, golgin subfamily a, 3 [Source:MGI Symbol;Acc:MGI:96958]|Heterozygous|Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile.|T|G|24|36.5|Non-synonymous|Cryopreserved
1208108|IGL00397|5|150422787|D->G|0.06|Benign|MGI:2443895|Fry|furry homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443895]|Heterozygous||A|G|19|34.0|Non-synonymous|Cryopreserved
1208110|IGL00397|X|101415324|G->V|0.99|Probably damaging|MGI:1927231|Zmym3|zinc finger, MYM-type 3 [Source:MGI Symbol;Acc:MGI:1927231]|Heterozygous||C|A|18|35.5|Non-synonymous|Cryopreserved
1208111|IGL00397|4|109091683|E->G|0.24|Benign|MGI:1923784|Osbpl9|oxysterol binding protein-like 9 [Source:MGI Symbol;Acc:MGI:1923784]|Heterozygous||T|C|17|39.0|Non-synonymous|Cryopreserved
1208112|IGL00397|15|85017260|R->L||Unknown|MGI:98914|Upk3a|uroplakin 3A [Source:MGI Symbol;Acc:MGI:98914]|Heterozygous|Homozygous null mice exhibit urogenital defects including abnormal urothelium, vesicoureteral reflux, and hydronephrosis.|G|T|15|35.0|Non-synonymous|Cryopreserved
1208113|IGL00397|15|74721452|R->L|0.2|Benign|MGI:1925301|4930572j05rik|RIKEN cDNA 4930572J05 gene [Source:MGI Symbol;Acc:MGI:1925301]|Heterozygous||G|T|13|35.0|Non-synonymous|Cryopreserved
1208114|IGL00397|5|103834346|G->W|1.0|Probably damaging|MGI:1100819|Aff1|AF4/FMR2 family, member 1 [Source:MGI Symbol;Acc:MGI:1100819]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility.|G|T|13|34.0|Non-synonymous|Cryopreserved
1208116|IGL00397|8|86708956|D->Y|0.44|Possibly damaging|MGI:1914137|Lonp2|lon peptidase 2, peroxisomal [Source:MGI Symbol;Acc:MGI:1914137]|Heterozygous||G|T|13|38.0|Non-synonymous|Cryopreserved
1208117|IGL00397|10|78411469|E->Stop||N/A|MGI:1203500|Rrp1|ribosomal RNA processing 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1203500]|Heterozygous||C|A|12|39.0|Non-synonymous|Cryopreserved
1208118|IGL00397|17|71869522|G->C|1.0|Probably damaging|MGI:103305|Alk|anaplastic lymphoma kinase [Source:MGI Symbol;Acc:MGI:103305]|Heterozygous||C|A|12|34.0|Non-synonymous|Cryopreserved
1208119|IGL00397|7|130779689|L->M|0.56|Possibly damaging|MGI:3045247|Btbd16|BTB (POZ) domain containing 16 [Source:MGI Symbol;Acc:MGI:3045247]|Heterozygous||C|A|12|35.0|Non-synonymous|Cryopreserved
1208120|IGL00397|14|54908976|C->F|1.0|Probably damaging|MGI:1926225|Slc22a17|solute carrier family 22 (organic cation transporter), member 17 [Source:MGI Symbol;Acc:MGI:1926225]|Heterozygous||C|A|11|34.0|Non-synonymous|Cryopreserved
1208122|IGL00397|X|11328008|G->C|1.0|Probably damaging|MGI:3643273|Gm4906|predicted gene 4906 [Source:MGI Symbol;Acc:MGI:3643273]|Heterozygous||G|T|10|35.0|Non-synonymous|Cryopreserved
1208132|IGL00397|6|24501006|Disrupted splicing||N/A|MGI:3041159|Iqub|IQ motif and ubiquitin domain containing [Source:MGI Symbol;Acc:MGI:3041159]|Heterozygous||A|T|77|37.0|Splice|Cryopreserved
1208133|IGL00397|6|90358901|Disrupted splicing||N/A|MGI:2385332|Uroc1|urocanase domain containing 1 [Source:MGI Symbol;Acc:MGI:2385332]|Heterozygous||G|T|44|35.0|Splice|Cryopreserved
1208134|IGL00397|14|30051742|Disrupted splicing||N/A|MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|A|T|24|38.0|Splice|Cryopreserved
1236402|IGL00398|2|52287158|M->I|0.12|Benign|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||C|A|202|37.0|Non-synonymous|Cryopreserved
1236403|IGL00398|1|189822633|R->Q||N/A|MGI:102467|Ptpn14|protein tyrosine phosphatase, non-receptor type 14 [Source:MGI Symbol;Acc:MGI:102467]|Heterozygous|Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia.|G|A|113|36.0|Non-synonymous|Cryopreserved
1236404|IGL00398|6|23496874|N->K|0.2|Benign|MGI:2443963|Cadps2|Ca2+-dependent activator protein for secretion 2 [Source:MGI Symbol;Acc:MGI:2443963]|Heterozygous|Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior.|A|T|113|38.0|Non-synonymous|Cryopreserved
1236405|IGL00398|4|119393579|R->L|0.98|Probably damaging|MGI:1920582|Ccdc30|coiled-coil domain containing 30 [Source:MGI Symbol;Acc:MGI:1920582]|Heterozygous||C|A|97|35.0|Non-synonymous|Cryopreserved
1236406|IGL00398|6|18423895|N->I||N/A|MGI:1353467|Cttnbp2|cortactin binding protein 2 [Source:MGI Symbol;Acc:MGI:1353467]|Heterozygous||T|A|97|38.0|Non-synonymous|Cryopreserved
1236407|IGL00398|16|96016173|F->L|0.06|Benign|MGI:1890651|Brwd1|bromodomain and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:1890651]|Heterozygous|Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages.|A|G|93|37.0|Non-synonymous|Cryopreserved
1236408|IGL00398|5|3968683|E->G|0.22|Benign|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||A|G|89|35.0|Non-synonymous|Cryopreserved
1236409|IGL00398|1|58322801|F->S|0.27|Benign|MGI:3529596|Aox3l1|aldehyde oxidase 3-like 1 [Source:MGI Symbol;Acc:MGI:3529596]|Heterozygous||T|C|82|36.0|Non-synonymous|Cryopreserved
1236412|IGL00398|12|75905277|D->N|0.82|Possibly damaging|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|G|A|70|36.0|Non-synonymous|Cryopreserved
1236413|IGL00398|9|109106034|H->L|0.12|Benign|MGI:2154238|Plxnb1|plexin B1 [Source:MGI Symbol;Acc:MGI:2154238]|Heterozygous|Homozygous null mutants are normal in embryonic development or in the adult, including angiogenic response induced by implanted tumors.|A|T|67|37.0|Non-synonymous|Cryopreserved
1236415|IGL00398|5|52151924|V->D|1.0|Probably damaging|MGI:1099786|Dhx15|DEAH (Asp-Glu-Ala-His) box polypeptide 15 [Source:MGI Symbol;Acc:MGI:1099786]|Heterozygous||A|T|57|33.0|Non-synonymous|Cryopreserved
1236416|IGL00398|4|85049908|E->G|0.24|Benign|MGI:2443104|Cntln|centlein, centrosomal protein [Source:MGI Symbol;Acc:MGI:2443104]|Heterozygous||A|G|55|36.0|Non-synonymous|Cryopreserved
1236417|IGL00398|2|85196215|I->T|0.04|Benign|MGI:2685197|Lrrc55|leucine rich repeat containing 55 [Source:MGI Symbol;Acc:MGI:2685197]|Heterozygous||A|G|49|35.0|Non-synonymous|Cryopreserved
1236418|IGL00398|5|115256983|L->Q|1.0|Probably damaging|MGI:1859162|Rnf10|ring finger protein 10 [Source:MGI Symbol;Acc:MGI:1859162]|Heterozygous||A|T|49|35.0|Non-synonymous|Cryopreserved
1236419|IGL00398|7|139875661|H->Y|0.98|Probably damaging|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||C|T|47|35.0|Non-synonymous|Cryopreserved
1236420|IGL00398|16|45394700|T->I|0.24|Benign|MGI:1196990|Cd200|CD200 antigen [Source:MGI Symbol;Acc:MGI:1196990]|Heterozygous|Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease.|G|A|45|36.0|Non-synonymous|Cryopreserved
1236421|IGL00398|18|37743493|Y->F|0.85|Possibly damaging|MGI:1935228|Pcdhga11|protocadherin gamma subfamily A, 11 [Source:MGI Symbol;Acc:MGI:1935228]|Heterozygous||A|T|44|34.0|Non-synonymous|Cryopreserved
1236422|IGL00398|7|139875660|M->I||Benign|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||G|A|44|35.0|Non-synonymous|Cryopreserved
1236423|IGL00398|4|155657730|V->M|1.0|Probably damaging|MGI:2679684|Mib2|mindbomb homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2679684]|Heterozygous||C|T|40|37.0|Non-synonymous|Cryopreserved
1236424|IGL00398|4|43499502|R->C|1.0|Probably damaging|MGI:3036286|E130306d19rik|RIKEN cDNA E130306D19 gene [Source:MGI Symbol;Acc:MGI:3036286]|Heterozygous||G|A|38|35.0|Non-synonymous|Cryopreserved
1236425|IGL00398|7|141214039|Q->R|0.85|Possibly damaging|MGI:1919250|1600016n20rik|RIKEN cDNA 1600016N20 gene [Source:MGI Symbol;Acc:MGI:1919250]|Heterozygous||T|C|35|37.0|Non-synonymous|Cryopreserved
1236426|IGL00398|11|120817229|K->E|0.5|Possibly damaging|MGI:95485|Fasn|fatty acid synthase [Source:MGI Symbol;Acc:MGI:95485]|Heterozygous|Targeted mutation of this locus has implicated its product in embryogenesis as all homozygotes and most heterozygotes die prior to birth.|T|C|33|37.0|Non-synonymous|Cryopreserved
1236427|IGL00398|2|174297974|A->V||Unknown|MGI:95777|Gnas|GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Source:MGI Symbol;Acc:MGI:95777]|Heterozygous|Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.|C|T|33|34.0|Non-synonymous|Cryopreserved
1236428|IGL00398|3|69726386|V->I||Benign|MGI:2140103|Nmd3|NMD3 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2140103]|Heterozygous||G|A|32|37.5|Non-synonymous|Cryopreserved
1236429|IGL00398|11|5872293|Q->K||Benign|MGI:1097163|Pold2|polymerase (DNA directed), delta 2, regulatory subunit [Source:MGI Symbol;Acc:MGI:1097163]|Heterozygous||G|T|27|39.0|Non-synonymous|Cryopreserved
1236431|IGL00398|8|22320882|Y->F|0.64|Possibly damaging|MGI:2446460|Tpte|transmembrane phosphatase with tensin homology [Source:MGI Symbol;Acc:MGI:2446460]|Heterozygous||A|T|23|39.0|Non-synonymous|Cryopreserved
1236432|IGL00398|7|64872634|D->E|0.04|Benign|MGI:1917888, MGI:1913897|Ndnl2,fam189a1|family with sequence similarity 189, member A1 [Source:MGI Symbol;Acc:MGI:1917888],necdin-like 2 [Source:MGI Symbol;Acc:MGI:1913897]|Heterozygous||G|T|22|34.5|Non-synonymous|Cryopreserved
1236433|IGL00398|11|23606759|L->P|0.03|Benign|MGI:1918925|0610010f05rik|RIKEN cDNA 0610010F05 gene [Source:MGI Symbol;Acc:MGI:1918925]|Heterozygous||A|G|21|39.0|Non-synonymous|Cryopreserved
1236434|IGL00398|13|109949502|V->A|0.34|Benign|MGI:99555|Pde4d|phosphodiesterase 4D, cAMP specific [Source:MGI Symbol;Acc:MGI:99555]|Heterozygous|Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability.|T|C|16|38.0|Non-synonymous|Cryopreserved
1236435|IGL00398|17|37197828|G->C||Unknown|MGI:2177477|Olfr94|olfactory receptor 94 [Source:MGI Symbol;Acc:MGI:2177477]|Heterozygous||C|A|12|38.0|Non-synonymous|Cryopreserved
1236436|IGL00398|13|96614838|R->I|0.08|Benign|MGI:1915268|Col4a3bp|collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [Source:MGI Symbol;Acc:MGI:1915268]|Heterozygous|Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation.|G|T|10|34.5|Non-synonymous|Cryopreserved
1236437|IGL00398|2|111755079|V->F|1.0|Probably damaging|MGI:3031135|Olfr1301|olfactory receptor 1301 [Source:MGI Symbol;Acc:MGI:3031135]|Heterozygous||G|T|10|37.0|Non-synonymous|Cryopreserved
1236438|IGL00398|9|38672985|F->Y|0.28|Benign|MGI:3030752|Olfr918|olfactory receptor 918 [Source:MGI Symbol;Acc:MGI:3030752]|Heterozygous||A|T|10|34.5|Non-synonymous|Cryopreserved
1236448|IGL00398|17|26117009|Disrupted splicing||N/A|MGI:1926283|Tmem8|transmembrane protein 8 (five membrane-spanning domains) [Source:MGI Symbol;Acc:MGI:1926283]|Heterozygous||T|A|100|34.0|Splice|Cryopreserved
1236449|IGL00398|3|114123809|Disrupted splicing||N/A|MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|C|T|86|38.0|Splice|Cryopreserved
1236450|IGL00398|14|101920557|Disrupted splicing||N/A|MGI:1353586|Lmo7|LIM domain only 7 [Source:MGI Symbol;Acc:MGI:1353586]|Heterozygous|Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration.|G|A|71|32.0|Splice|Cryopreserved
1236451|IGL00398|6|73074781|Disrupted splicing||N/A|MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|G|42|38.0|Splice|Cryopreserved
1236452|IGL00398|4|148082385|Disrupted splicing||N/A|MGI:1339977|Agtrap|angiotensin II, type I receptor-associated protein [Source:MGI Symbol;Acc:MGI:1339977]|Heterozygous||A|G|35|35.0|Splice|Cryopreserved
1236453|IGL00398|7|75750633|Disrupted splicing||N/A|MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||T|C|33|34.0|Splice|Cryopreserved
1236454|IGL00398|7|16178947|Disrupted splicing||N/A|MGI:108519|Meis3|Meis homeobox 3 [Source:MGI Symbol;Acc:MGI:108519]|Heterozygous||C|T|32|35.0|Splice|Cryopreserved
1236455|IGL00398|11|78179457|Disrupted splicing||N/A|MGI:1915572|Tlcd1|TLC domain containing 1 [Source:MGI Symbol;Acc:MGI:1915572]|Heterozygous||G|A|17|34.0|Splice|Cryopreserved
1265284|IGL00399|4|53038185|L->Stop||N/A|MGI:99607|Abca1|ATP-binding cassette, sub-family A (ABC1), member 1 [Source:MGI Symbol;Acc:MGI:99607]|Heterozygous|Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.|A|T|144|35.0|Non-synonymous|Cryopreserved
1265285|IGL00399|14|61370517|I->K|1.0|Probably damaging|MGI:1100863|Kpna3|karyopherin (importin) alpha 3 [Source:MGI Symbol;Acc:MGI:1100863]|Heterozygous||A|T|117|38.0|Non-synonymous|Cryopreserved
1265286|IGL00399|14|26949476|Y->N|0.11|Benign|MGI:1920243|Appl1|adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 [Source:MGI Symbol;Acc:MGI:1920243]|Heterozygous|Mouse fibroblast cells homozygous for a knock-out allele exhibit reduced HGF-induced cell survival and migration.|A|T|100|38.5|Non-synonymous|Cryopreserved
1265287|IGL00399|5|14793834|M->L|0.29|Benign|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|T|99|36.0|Non-synonymous|Cryopreserved
1265288|IGL00399|4|140729003|L->P|0.91|Possibly damaging|MGI:2655198|Padi6|peptidyl arginine deiminase, type VI [Source:MGI Symbol;Acc:MGI:2655198]|Heterozygous|Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility.|A|G|97|35.0|Non-synonymous|Cryopreserved
1265289|IGL00399|16|64926444|R->W|1.0|Probably damaging|MGI:99842|Htr1f|5-hydroxytryptamine (serotonin) receptor 1F [Source:MGI Symbol;Acc:MGI:99842]|Heterozygous|Mice homozygous for disruptions in this gene display decreased temperature sensitivity and physiological abnormalities in nerve fibers.|T|A|95|35.0|Non-synonymous|Cryopreserved
1265290|IGL00399|2|127232472|E->K|0.9|Possibly damaging|MGI:2444401|Snrnp200|small nuclear ribonucleoprotein 200 (U5) [Source:MGI Symbol;Acc:MGI:2444401]|Heterozygous||G|A|90|35.0|Non-synonymous|Cryopreserved
1265291|IGL00399|5|66283601|I->T|0.87|Possibly damaging|MGI:1918168|Nsun7|NOL1/NOP2/Sun domain family, member 7 [Source:MGI Symbol;Acc:MGI:1918168]|Heterozygous|Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath.|T|C|90|37.0|Non-synonymous|Cryopreserved
1265292|IGL00399|10|62944433|T->A|0.77|Possibly damaging|MGI:1920382|Slc25a16|solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16 [Source:MGI Symbol;Acc:MGI:1920382]|Heterozygous||A|G|82|35.0|Non-synonymous|Cryopreserved
1265293|IGL00399|10|4030716|Q->K|1.0|Probably damaging|MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||G|T|79|36.0|Non-synonymous|Cryopreserved
1265295|IGL00399|3|88863508|Q->L||Benign|MGI:1917579|Gon4l|gon-4-like (C.elegans) [Source:MGI Symbol;Acc:MGI:1917579]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage.|A|T|69|37.0|Non-synonymous|Cryopreserved
1265296|IGL00399|5|76886206|E->D|0.99|Probably damaging|MGI:2442517|Aasdh|aminoadipate-semialdehyde dehydrogenase [Source:MGI Symbol;Acc:MGI:2442517]|Heterozygous||T|A|68|38.0|Non-synonymous|Cryopreserved
1265297|IGL00399|15|79146129|Y->C|1.0|Probably damaging|MGI:1349393|Polr2f|polymerase (RNA) II (DNA directed) polypeptide F [Source:MGI Symbol;Acc:MGI:1349393]|Heterozygous||A|G|65|34.0|Non-synonymous|Cryopreserved
1265298|IGL00399|15|76599297|Q->Stop||N/A|MGI:2679722|Cpsf1|cleavage and polyadenylation specific factor 1 [Source:MGI Symbol;Acc:MGI:2679722]|Heterozygous||G|A|63|37.0|Non-synonymous|Cryopreserved
1265299|IGL00399|10|41740869|R->Stop||N/A|MGI:1915511|Cep57l1|centrosomal protein 57-like 1 [Source:MGI Symbol;Acc:MGI:1915511]|Heterozygous||G|A|59|39.0|Non-synonymous|Cryopreserved
1265300|IGL00399|3|63327860|N->S|0.99|Probably damaging|MGI:97004|Mme|membrane metallo endopeptidase [Source:MGI Symbol;Acc:MGI:97004]|Heterozygous||A|G|58|38.0|Non-synonymous|Cryopreserved
1265301|IGL00399|8|110863306|Y->H|0.99|Probably damaging|MGI:2142808|Cog4|component of oligomeric golgi complex 4 [Source:MGI Symbol;Acc:MGI:2142808]|Heterozygous||T|C|56|35.5|Non-synonymous|Cryopreserved
1265302|IGL00399|11|105625065|R->Q|0.86|Possibly damaging|MGI:2444121|Tanc2|tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:MGI Symbol;Acc:MGI:2444121]|Heterozygous|Mice homozygous for a gene trap vector die prior to E12.|G|A|55|37.0|Non-synonymous|Cryopreserved
1265303|IGL00399|15|89376310|H->Y|1.0|Probably damaging|MGI:1920212|Tymp|thymidine phosphorylase [Source:MGI Symbol;Acc:MGI:1920212]|Heterozygous|Mice homozygous for a null allele exhibit reduced thymidine phosphorylase activity and increased thymidine levels.|G|A|55|32.0|Non-synonymous|Cryopreserved
1265304|IGL00399|17|25103631|W->Stop||N/A|MGI:1918968|Telo2|TEL2, telomere maintenance 2, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918968]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5.|C|T|54|35.0|Non-synonymous|Cryopreserved
1265306|IGL00399|2|121535497|S->P||Benign|MGI:1926186|Wdr76|WD repeat domain 76 [Source:MGI Symbol;Acc:MGI:1926186]|Heterozygous||T|C|54|35.0|Non-synonymous|Cryopreserved
1265307|IGL00399|1|72650989|I->F|0.36|Benign|MGI:2442559|Ankar|ankyrin and armadillo repeat containing [Source:MGI Symbol;Acc:MGI:2442559]|Heterozygous||T|A|53|37.0|Non-synonymous|Cryopreserved
1265308|IGL00399|16|20282790|A->S|0.93|Possibly damaging|MGI:1277152|Parl|presenilin associated, rhomboid-like [Source:MGI Symbol;Acc:MGI:1277152]|Heterozygous|Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.|C|A|53|38.0|Non-synonymous|Cryopreserved
1265309|IGL00399|10|7839956|I->T|0.99|Probably damaging|MGI:3045313|Zc3h12d|zinc finger CCCH type containing 12D [Source:MGI Symbol;Acc:MGI:3045313]|Heterozygous||T|C|47|35.0|Non-synonymous|Cryopreserved
1265310|IGL00399|9|21399691|N->D|0.9|Possibly damaging|MGI:1339973|Ilf3|interleukin enhancer binding factor 3 [Source:MGI Symbol;Acc:MGI:1339973]|Heterozygous|Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers, myocyte degeneration and elevated apoptosis.|A|G|45|35.0|Non-synonymous|Cryopreserved
1265311|IGL00399|11|117722029|V->L|0.92|Possibly damaging|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||G|T|44|38.0|Non-synonymous|Cryopreserved
1265312|IGL00399|19|5729369|D->E||Benign|MGI:106595|Fam89b|family with sequence similarity 89, member B [Source:MGI Symbol;Acc:MGI:106595]|Heterozygous||G|T|44|33.0|Non-synonymous|Cryopreserved
1265313|IGL00399|18|20689013|V->A|1.0|Probably damaging|MGI:1928380|B4galt6|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 [Source:MGI Symbol;Acc:MGI:1928380]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|43|36.0|Non-synonymous|Cryopreserved
1265314|IGL00399|17|25789054|E->G|0.24|Benign|MGI:2685784|Ccdc78|coiled-coil domain containing 78 [Source:MGI Symbol;Acc:MGI:2685784]|Heterozygous||A|G|42|34.5|Non-synonymous|Cryopreserved
1265315|IGL00399|2|14328425|W->R|1.0|Probably damaging|MGI:97142|Mrc1|mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]|Heterozygous|Male homozygotes for one targeted null mutation are reported to die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable.|T|C|42|34.5|Non-synonymous|Cryopreserved
1265316|IGL00399|8|88742362|L->R|0.99|Probably damaging|MGI:1921506|Cyld|cylindromatosis (turban tumor syndrome) [Source:MGI Symbol;Acc:MGI:1921506]|Heterozygous|Mice homozygous for a targeted deletion of exon 9 display short, kinky tails and neonatal lethality associated with cyanosis, atelectasis, unexpanded lung saccules and hyperplastic mesenchyme. Mice homozygous for a targeted deletion of exons 7 and 8 exhibit abnormal B cell morphology and physiology.|T|G|40|37.0|Non-synonymous|Cryopreserved
1265317|IGL00399|5|8993575|Y->H|0.16|Benign|MGI:1921364|Crot|carnitine O-octanoyltransferase [Source:MGI Symbol;Acc:MGI:1921364]|Heterozygous||A|G|39|37.0|Non-synonymous|Cryopreserved
1265318|IGL00399|8|105452175|N->I|0.82|Possibly damaging|MGI:2448585|Lrrc36|leucine rich repeat containing 36 [Source:MGI Symbol;Acc:MGI:2448585]|Heterozygous||A|T|37|36.0|Non-synonymous|Cryopreserved
1265320|IGL00399|7|141279073|M->T||Unknown|MGI:99466|Sct|secretin [Source:MGI Symbol;Acc:MGI:99466]|Heterozygous|Mice homozygous for a null allele display impaired hippocampal synaptic function. Mice homozygous for a different knock-out allele fail exhibit increased water concsumption of vasopressin serum levels in response to ANGII treatment.|A|G|29|33.0|Non-synonymous|Cryopreserved
1265321|IGL00399|2|126323087|R->L|0.42|Benign|MGI:1859664|Atp8b4|ATPase, class I, type 8B, member 4 [Source:MGI Symbol;Acc:MGI:1859664]|Heterozygous||C|A|28|36.5|Non-synonymous|Cryopreserved
1265322|IGL00399|10|41267786|M->V||Benign|MGI:2143585|Fig4|FIG4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143585]|Heterozygous|Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.|T|C|27|39.0|Non-synonymous|Cryopreserved
1265323|IGL00399|1|92907411|D->E||Benign|MGI:1914696|Dusp28|dual specificity phosphatase 28 [Source:MGI Symbol;Acc:MGI:1914696]|Heterozygous||T|A|22|35.0|Non-synonymous|Cryopreserved
1265324|IGL00399|9|27334304|R->L|1.0|Probably damaging|MGI:2685354|Igsf9b|immunoglobulin superfamily, member 9B [Source:MGI Symbol;Acc:MGI:2685354]|Heterozygous||G|T|20|33.0|Non-synonymous|Cryopreserved
1265325|IGL00399|7|29000971|F->L|0.59|Possibly damaging|MGI:1346882|Map4k1|mitogen-activated protein kinase kinase kinase kinase 1 [Source:MGI Symbol;Acc:MGI:1346882]|Heterozygous|Homozygous null mice have increased responses of B and T cells. Dendritic cells are also hyperresponsive to stimulation.|T|C|19|31.0|Non-synonymous|Cryopreserved
1265326|IGL00399|1|87756224|D->Y|0.14|Benign|MGI:1924290|Atg16l1|autophagy-related 16-like 1 (yeast) [Source:MGI Symbol;Acc:MGI:1924290]|Heterozygous|Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorph alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.|G|T|12|31.0|Non-synonymous|Cryopreserved
1265328|IGL00399|12|66284227|D->G|0.17|Benign|MGI:3647985|Rpl10l|ribosomal protein L10-like [Source:MGI Symbol;Acc:MGI:3647985]|Heterozygous||T|C|11|35.0|Non-synonymous|Cryopreserved
1265329|IGL00399|9|94537378|D->E|1.0|Probably damaging|MGI:1916111|1190002n15rik|RIKEN cDNA 1190002N15 gene [Source:MGI Symbol;Acc:MGI:1916111]|Heterozygous||G|T|11|35.0|Non-synonymous|Cryopreserved
1265330|IGL00399|16|32477573|P->H|1.0|Probably damaging|MGI:2146634|Osta|organic solute transporter alpha [Source:MGI Symbol;Acc:MGI:2146634]|Heterozygous|Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport.|G|T|10|35.5|Non-synonymous|Cryopreserved
1265331|IGL00399|7|79710440|R->S|0.83|Possibly damaging|MGI:1098239|Kif7|kinesin family member 7 [Source:MGI Symbol;Acc:MGI:1098239]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis.|G|T|10|35.0|Non-synonymous|Cryopreserved
1265332|IGL00399|9|19375484|Y->Stop||N/A|MGI:3030681|Olfr847|olfactory receptor 847 [Source:MGI Symbol;Acc:MGI:3030681]|Heterozygous||G|T|10|36.5|Non-synonymous|Cryopreserved
1265335|IGL00399|4|24502925|Disrupted splicing||N/A|MGI:2684980|Mms22l|MMS22-like, DNA repair protein [Source:MGI Symbol;Acc:MGI:2684980]|Heterozygous||T|G|73|37.0|Splice|Cryopreserved
1265336|IGL00399|8|109579021|Disrupted splicing||N/A|MGI:96211|Hp|haptoglobin [Source:MGI Symbol;Acc:MGI:96211]|Heterozygous||C|A|63|33.0|Splice|Cryopreserved
1265337|IGL00399|19|55919627|Disrupted splicing||N/A|MGI:1202879|Tcf7l2|transcription factor 7-like 2, T-cell specific, HMG-box [Source:MGI Symbol;Acc:MGI:1202879]|Heterozygous|Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth.|T|C|46|34.0|Splice|Cryopreserved
1265338|IGL00399|5|65031395|Disrupted splicing||N/A|MGI:1915553|Fam114a1|family with sequence similarity 114, member A1 [Source:MGI Symbol;Acc:MGI:1915553]|Heterozygous||G|A|44|37.5|Splice|Cryopreserved
1265339|IGL00399|13|112997585|Disrupted splicing||N/A|MGI:3648807|Gm6320|predicted gene 6320 [Source:MGI Symbol;Acc:MGI:3648807]|Heterozygous||T|A|20|35.0|Splice|Cryopreserved
1265340|IGL00399|10|56201959|Disrupted splicing||N/A|MGI:2442827|D630037f22rik|RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]|Heterozygous|Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.|G|T|16|37.0|Splice|Cryopreserved
1294376|IGL00400|10|21146260|V->I|0.71|Possibly damaging|MGI:97249|Myb|myeloblastosis oncogene [Source:MGI Symbol;Acc:MGI:97249]|Heterozygous|Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected.|C|T|148|38.0|Non-synonymous|Cryopreserved
1294377|IGL00400|4|152118428|V->A||Benign|MGI:1934667|Tnfrsf25|tumor necrosis factor receptor superfamily, member 25 [Source:MGI Symbol;Acc:MGI:1934667]|Heterozygous|Homozygous mutant mice show no developmental defects or impairments of early thymocyte development. Negative selection and anti-CD3-induced apoptosis, however, are significantly impaired.|T|C|133|35.0|Non-synonymous|Cryopreserved
1294378|IGL00400|13|83655595|M->K|0.94|Possibly damaging|MGI:99458|Mef2c|myocyte enhancer factor 2C [Source:MGI Symbol;Acc:MGI:99458]|Heterozygous|Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.|T|A|130|35.0|Non-synonymous|Cryopreserved
1294379|IGL00400|7|123286568|H->Q||Unknown|MGI:1917747|Arhgap17|Rho GTPase activating protein 17 [Source:MGI Symbol;Acc:MGI:1917747]|Heterozygous||A|T|126|31.0|Non-synonymous|Cryopreserved
1294380|IGL00400|8|129178357|T->A|0.05|Benign|MGI:1922703|1700008f21rik|RIKEN cDNA 1700008F21 gene [Source:MGI Symbol;Acc:MGI:1922703]|Heterozygous||A|G|126|39.0|Non-synonymous|Cryopreserved
1294381|IGL00400|18|77017554|V->F|0.83|Possibly damaging|MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||C|A|96|35.0|Non-synonymous|Cryopreserved
1294382|IGL00400|6|146345161|R->W|1.0|Probably damaging|MGI:99418|Itpr2|inositol 1,4,5-triphosphate receptor 2 [Source:MGI Symbol;Acc:MGI:99418]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile with no apparent abnormalities in pancreatic and salivary secretion. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.|G|A|96|37.0|Non-synonymous|Cryopreserved
1294383|IGL00400|17|74307754|L->I|1.0|Probably damaging|MGI:1913560|Dpy30|dpy-30 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1913560]|Heterozygous||A|T|93|35.0|Non-synonymous|Cryopreserved
1294384|IGL00400|13|34990329|L->Stop||N/A|MGI:1346064|Eci2|enoyl-Coenzyme A delta isomerase 2 [Source:MGI Symbol;Acc:MGI:1346064]|Heterozygous||A|T|91|37.0|Non-synonymous|Cryopreserved
1294385|IGL00400|17|14926247|H->L|1.0|Probably damaging|MGI:1918932|Wdr27|WD repeat domain 27 [Source:MGI Symbol;Acc:MGI:1918932]|Heterozygous||T|A|85|37.0|Non-synonymous|Cryopreserved
1294386|IGL00400|5|70778169|K->R||Benign|MGI:103156|Gabrg1|gamma-aminobutyric acid (GABA) A receptor, subunit gamma 1 [Source:MGI Symbol;Acc:MGI:103156]|Heterozygous||T|C|82|39.0|Non-synonymous|Cryopreserved
1294387|IGL00400|8|15917341|K->R||Benign|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||T|C|82|35.0|Non-synonymous|Cryopreserved
1294388|IGL00400|1|53761037|S->T||Benign|MGI:2138162|Stk17b|serine/threonine kinase 17b (apoptosis-inducing) [Source:MGI Symbol;Acc:MGI:2138162]|Heterozygous|Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis.|A|T|81|39.0|Non-synonymous|Cryopreserved
1294389|IGL00400|19|36442868|C->S|0.22|Benign|MGI:1923505|Pcgf5|polycomb group ring finger 5 [Source:MGI Symbol;Acc:MGI:1923505]|Heterozygous||T|A|81|39.0|Non-synonymous|Cryopreserved
1294390|IGL00400|6|48537815|I->T|0.01|Benign|MGI:1923502|Atp6v0e2|ATPase, H+ transporting, lysosomal V0 subunit E2 [Source:MGI Symbol;Acc:MGI:1923502]|Heterozygous||T|C|80|33.0|Non-synonymous|Cryopreserved
1294391|IGL00400|9|110362420|P->H|1.0|Probably damaging|MGI:2135958|Scap|SREBF chaperone [Source:MGI Symbol;Acc:MGI:2135958]|Heterozygous||C|A|79|36.0|Non-synonymous|Cryopreserved
1294393|IGL00400|16|10511132|M->V||Benign|MGI:108445|Ciita|class II transactivator [Source:MGI Symbol;Acc:MGI:108445]|Heterozygous|Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses.|A|G|75|35.0|Non-synonymous|Cryopreserved
1294394|IGL00400|19|56930261|E->G|0.66|Possibly damaging|MGI:2147658|Afap1l2|actin filament associated protein 1-like 2 [Source:MGI Symbol;Acc:MGI:2147658]|Heterozygous||T|C|72|36.0|Non-synonymous|Cryopreserved
1294395|IGL00400|9|58157228|E->G|1.0|Probably damaging|MGI:1349645|Islr|immunoglobulin superfamily containing leucine-rich repeat [Source:MGI Symbol;Acc:MGI:1349645]|Heterozygous||T|C|72|37.0|Non-synonymous|Cryopreserved
1294396|IGL00400|5|31136958|S->A|0.02|Benign|MGI:1889623|Trim54|tripartite motif-containing 54 [Source:MGI Symbol;Acc:MGI:1889623]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction.|T|G|71|35.0|Non-synonymous|Cryopreserved
1294397|IGL00400|15|101461019|D->G|0.11|Benign|MGI:1928858|Krt81|keratin 81 [Source:MGI Symbol;Acc:MGI:1928858]|Heterozygous||T|C|70|32.0|Non-synonymous|Cryopreserved
1294398|IGL00400|16|25987248|C->G|1.0|Probably damaging|MGI:2146663|Leprel1|leprecan-like 1 [Source:MGI Symbol;Acc:MGI:2146663]|Heterozygous||A|C|68|35.0|Non-synonymous|Cryopreserved
1294399|IGL00400|16|45143832|V->A|1.0|Probably damaging|MGI:1921352|Slc35a5|solute carrier family 35, member A5 [Source:MGI Symbol;Acc:MGI:1921352]|Heterozygous||A|G|68|36.0|Non-synonymous|Cryopreserved
1294400|IGL00400|11|116283170|T->S|1.0|Probably damaging|MGI:1337018|Galr2|galanin receptor 2 [Source:MGI Symbol;Acc:MGI:1337018]|Heterozygous|Mice homozygous for disruptions in this gene display a reduction in exploratory activity. There is also a modest shift in the distribution of different lymphocyte cell types.|A|T|66|35.0|Non-synonymous|Cryopreserved
1294402|IGL00400|2|146421739|Q->L|0.31|Benign|MGI:3036245|Ralgapa2|Ral GTPase activating protein, alpha subunit 2 (catalytic) [Source:MGI Symbol;Acc:MGI:3036245]|Heterozygous||T|A|65|37.0|Non-synonymous|Cryopreserved
1294403|IGL00400|19|11791788|K->E|0.64|Possibly damaging|MGI:103077|Stx3|syntaxin 3 [Source:MGI Symbol;Acc:MGI:103077]|Heterozygous||T|C|64|36.0|Non-synonymous|Cryopreserved
1294404|IGL00400|8|14979977|S->P||Benign|MGI:2444453|Arhgef10|Rho guanine nucleotide exchange factor (GEF) 10 [Source:MGI Symbol;Acc:MGI:2444453]|Heterozygous||T|C|63|35.0|Non-synonymous|Cryopreserved
1294405|IGL00400|8|13033409|E->V|0.98|Probably damaging|MGI:109325|F7|coagulation factor VII [Source:MGI Symbol;Acc:MGI:109325]|Heterozygous|Mice homozygous for a targeted null mutation developed normally through embryogenesis, and exhibited no vascular defects; however, 70% of homozygous neonates suffered fatal intra-abdominal haemorrhaging and died within 24 hours after birth.|A|T|61|36.0|Non-synonymous|Cryopreserved
1294406|IGL00400|14|48252730|R->Stop||N/A|MGI:1891445|Peli2|pellino 2 [Source:MGI Symbol;Acc:MGI:1891445]|Heterozygous||C|T|57|35.0|Non-synonymous|Cryopreserved
1294407|IGL00400|18|61839701|M->K|0.98|Probably damaging|MGI:2442582|Ablim3|actin binding LIM protein family, member 3 [Source:MGI Symbol;Acc:MGI:2442582]|Heterozygous||A|T|53|35.0|Non-synonymous|Cryopreserved
1294408|IGL00400|18|73675809|N->I|1.0|Probably damaging|MGI:894293|Smad4|MAD homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:894293]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum.|T|A|53|38.0|Non-synonymous|Cryopreserved
1294409|IGL00400|17|25070355|D->G|1.0|Probably damaging|MGI:2146906, MGI:3039635|Tmem204,ift140|intraflagellar transport 140 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:2146906],transmembrane protein 204 [Source:MGI Symbol;Acc:MGI:3039635]|Heterozygous||T|C|51|36.0|Non-synonymous|Cryopreserved
1294410|IGL00400|18|67812406|N->K|0.22|Benign|MGI:1918049|Cep192|centrosomal protein 192 [Source:MGI Symbol;Acc:MGI:1918049]|Heterozygous||T|A|51|36.0|Non-synonymous|Cryopreserved
1294411|IGL00400|11|65184625|G->R||N/A|MGI:2137495|Myocd|myocardin [Source:MGI Symbol;Acc:MGI:2137495]|Heterozygous|Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle.|C|T|49|37.0|Non-synonymous|Cryopreserved
1294412|IGL00400|15|102227585|S->L|0.04|Benign|MGI:96616|Itgb7|integrin beta 7 [Source:MGI Symbol;Acc:MGI:96616]|Heterozygous|Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration|G|A|48|35.0|Non-synonymous|Cryopreserved
1294413|IGL00400|18|64504968|A->E|1.0|Probably damaging|MGI:1917473|Nars|asparaginyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1917473]|Heterozygous||G|T|44|35.0|Non-synonymous|Cryopreserved
1294414|IGL00400|9|100855859|A->E|0.95|Possibly damaging|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||C|A|43|35.0|Non-synonymous|Cryopreserved
1294415|IGL00400|7|105641138|Y->Stop||N/A|MGI:1315196|Fxc1|fractured callus expressed transcript 1 [Source:MGI Symbol;Acc:MGI:1315196]|Heterozygous||C|A|42|34.0|Non-synonymous|Cryopreserved
1294416|IGL00400|12|103112455|D->E|0.99|Probably damaging|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|A|41|39.0|Non-synonymous|Cryopreserved
1294417|IGL00400|6|115899491|Y->N|1.0|Probably damaging|MGI:1932386|Ift122|intraflagellar transport 122 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1932386]|Heterozygous|Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects.|T|A|39|37.0|Non-synonymous|Cryopreserved
1294418|IGL00400|9|54950679|C->Y||Unknown|MGI:3575512|Ay074887|cDNA sequence AY074887 [Source:MGI Symbol;Acc:MGI:3575512]|Heterozygous||C|T|39|35.0|Non-synonymous|Cryopreserved
1294419|IGL00400|4|86342189|F->S|0.6|Possibly damaging|MGI:1924989|Adamtsl1|ADAMTS-like 1 [Source:MGI Symbol;Acc:MGI:1924989]|Heterozygous||T|C|36|31.5|Non-synonymous|Cryopreserved
1294420|IGL00400|6|48677917|V->A||N/A|MGI:3511744|Gimap9|GTPase, IMAP family member 9 [Source:MGI Symbol;Acc:MGI:3511744]|Heterozygous||T|C|36|37.0|Non-synonymous|Cryopreserved
1294421|IGL00400|2|52196361|N->K||Benign|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|T|34|37.0|Non-synonymous|Cryopreserved
1294422|IGL00400|8|94587362|R->W|1.0|Probably damaging|MGI:1919637|Fam192a|family with sequence similarity 192, member A [Source:MGI Symbol;Acc:MGI:1919637]|Heterozygous||G|A|31|37.0|Non-synonymous|Cryopreserved
1294423|IGL00400|5|129746439|I->T|0.53|Possibly damaging|MGI:1278343|Gbas|glioblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1278343]|Heterozygous||T|C|30|35.5|Non-synonymous|Cryopreserved
1294424|IGL00400|17|13013577|A->V|0.15|Benign|MGI:98352|Sod2|superoxide dismutase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:98352]|Heterozygous|Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age.|C|T|29|38.0|Non-synonymous|Cryopreserved
1294425|IGL00400|2|57364530|N->S||Benign|MGI:99778|Gpd2|glycerol phosphate dehydrogenase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:99778]|Heterozygous|Homozygotes for targeted null mutations exhibit diminished hepatic ATP levels, decreased adiposity and fasting blood glucose, and, on an inbred background, reductions in preweaning viability and fertility.|A|G|29|37.0|Non-synonymous|Cryopreserved
1294426|IGL00400|8|70913910|N->K||Benign|MGI:2443304|Mtap1s|microtubule-associated protein 1S [Source:MGI Symbol;Acc:MGI:2443304]|Heterozygous|Mice homozygous for a knock-out allele exhibit defective biogenesis and degradation of autophagosomes.|C|A|27|37.0|Non-synonymous|Cryopreserved
1294427|IGL00400|10|49272956|D->A|1.0|Probably damaging|MGI:95815|Grik2|glutamate receptor, ionotropic, kainate 2 (beta 2) [Source:MGI Symbol;Acc:MGI:95815]|Heterozygous|Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration.|T|G|25|38.0|Non-synonymous|Cryopreserved
1294428|IGL00400|3|103833414|D->E|1.0|Probably damaging|MGI:2685412|Bcl2l15|BCLl2-like 15 [Source:MGI Symbol;Acc:MGI:2685412]|Heterozygous||T|A|24|36.5|Non-synonymous|Cryopreserved
1294429|IGL00400|18|42054192|D->E|0.34|Benign|MGI:2444628|Sh3rf2|SH3 domain containing ring finger 2 [Source:MGI Symbol;Acc:MGI:2444628]|Heterozygous||T|A|21|36.0|Non-synonymous|Cryopreserved
1294431|IGL00400|7|132597725|H->Q||Benign|MGI:104806|Nkx1-2|NK1 transcription factor related, locus 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:104806]|Heterozygous||G|T|17|33.0|Non-synonymous|Cryopreserved
1294432|IGL00400|8|22192943|R->C|1.0|Probably damaging|MGI:1917410|Vps36|vacuolar protein sorting 36 (yeast) [Source:MGI Symbol;Acc:MGI:1917410]|Heterozygous||C|T|16|30.5|Non-synonymous|Cryopreserved
1294433|IGL00400|17|74489746|A->T|0.51|Possibly damaging|MGI:1915114|Yipf4|Yip1 domain family, member 4 [Source:MGI Symbol;Acc:MGI:1915114]|Heterozygous||G|A|14|33.0|Non-synonymous|Cryopreserved
1294434|IGL00400|5|137735293|H->N|0.26|Benign|MGI:2443880|6430598a04rik|RIKEN cDNA 6430598A04 gene [Source:MGI Symbol;Acc:MGI:2443880]|Heterozygous||G|T|12|37.5|Non-synonymous|Cryopreserved
1294435|IGL00400|9|66511723|R->S|0.28|Benign|MGI:1921415|Fbxl22|F-box and leucine-rich repeat protein 22 [Source:MGI Symbol;Acc:MGI:1921415]|Heterozygous||G|T|11|35.0|Non-synonymous|Cryopreserved
1294436|IGL00400|9|121767731|L->F|0.45|Possibly damaging|MGI:2670992|Zfp651|zinc finger protein 651 [Source:MGI Symbol;Acc:MGI:2670992]|Heterozygous||C|T|11|35.0|Non-synonymous|Cryopreserved
1294437|IGL00400|11|121260319|M->I|0.66|Possibly damaging|MGI:1916087|Foxk2|forkhead box K2 [Source:MGI Symbol;Acc:MGI:1916087]|Heterozygous||G|A|10|34.0|Non-synonymous|Cryopreserved
1294450|IGL00400|11|99780005|Disrupted splicing||N/A|MGI:3652306|Krtap4-8|keratin associated protein 4-8 [Source:MGI Symbol;Acc:MGI:3652306]|Heterozygous||T|A|150|33.0|Splice|Cryopreserved
1294451|IGL00400|7|107737831|Disrupted splicing||N/A|MGI:894649|Ppfibp2|PTPRF interacting protein, binding protein 2 (liprin beta 2) [Source:MGI Symbol;Acc:MGI:894649]|Heterozygous||T|C|102|39.5|Splice|Cryopreserved
1294452|IGL00400|18|34738288|Disrupted splicing||N/A|MGI:88350|Cdc25c|cell division cycle 25 homolog C (S. pombe) [Source:MGI Symbol;Acc:MGI:88350]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal T and B lymphocyte development and proliferative responses.|C|T|84|34.5|Splice|Cryopreserved
1294453|IGL00400|9|120116494|Disrupted splicing||N/A|MGI:2384782|Slc25a38|solute carrier family 25, member 38 [Source:MGI Symbol;Acc:MGI:2384782]|Heterozygous||T|C|76|35.0|Splice|Cryopreserved
1294454|IGL00400|14|55544069|Disrupted splicing||N/A|MGI:1860456|Pck2|phosphoenolpyruvate carboxykinase 2 (mitochondrial) [Source:MGI Symbol;Acc:MGI:1860456]|Heterozygous||T|C|65|36.0|Splice|Cryopreserved
1294455|IGL00400|4|143950214|Disrupted splicing||N/A|MGI:3649968|Gm13109|predicted gene 13109 [Source:MGI Symbol;Acc:MGI:3649968]|Heterozygous||T|A|63|37.0|Splice|Cryopreserved
1294456|IGL00400|10|58540915|Disrupted splicing||N/A|MGI:1923388|Ccdc138|coiled-coil domain containing 138 [Source:MGI Symbol;Acc:MGI:1923388]|Heterozygous||G|A|52|35.0|Splice|Cryopreserved
1294457|IGL00400|7|29161523|Disrupted splicing||N/A|MGI:2142186|Spred3|sprouty-related, EVH1 domain containing 3 [Source:MGI Symbol;Acc:MGI:2142186]|Heterozygous||T|A|50|33.5|Splice|Cryopreserved
1294458|IGL00400|6|148789063|Disrupted splicing||N/A|MGI:2444611|Ipo8|importin 8 [Source:MGI Symbol;Acc:MGI:2444611]|Heterozygous||A|G|47|38.0|Splice|Cryopreserved
1294459|IGL00400|5|112941732|Disrupted splicing||N/A|MGI:87941|Adrbk2|adrenergic receptor kinase, beta 2 [Source:MGI Symbol;Acc:MGI:87941]|Heterozygous|Animals homozygous for a mutation of this gene appear normal and are fertile, but exhibit a lack of odorant receptor-mediated desensitization in the olfactory epithelium.|A|G|38|35.5|Splice|Cryopreserved
1294460|IGL00400|9|71130549|Disrupted splicing||N/A|MGI:1891066|Aqp9|aquaporin 9 [Source:MGI Symbol;Acc:MGI:1891066]|Heterozygous|Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection.|A|G|27|36.0|Splice|Cryopreserved
1294461|IGL00400|11|51826553|Disrupted splicing||N/A|MGI:1924151|Phf15|PHD finger protein 15 [Source:MGI Symbol;Acc:MGI:1924151]|Heterozygous||A|G|15|36.0|Splice|Cryopreserved
1294462|IGL00400|5|34000776|Disrupted splicing||N/A|MGI:2447776|Nat8l|N-acetyltransferase 8-like [Source:MGI Symbol;Acc:MGI:2447776]|Heterozygous||C|A|12|36.5|Splice|Cryopreserved
1294463|IGL00400|11|69777471|Disrupted splicing||N/A|MGI:1922830|Zbtb4|zinc finger and BTB domain containing 4 [Source:MGI Symbol;Acc:MGI:1922830]|Heterozygous||G|T|10|39.5|Splice|Cryopreserved
1323476|IGL00401|11|99809717|C->S||Unknown|MGI:1916714|Krtap4-13|keratin associated protein 4-13 [Source:MGI Symbol;Acc:MGI:1916714]|Heterozygous||A|T|290|35.0|Non-synonymous|Cryopreserved
1323478|IGL00401|14|54953417|M->L|0.87|Possibly damaging|MGI:97255|Myh6|myosin, heavy polypeptide 6, cardiac muscle, alpha [Source:MGI Symbol;Acc:MGI:97255]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects. Mice heterozygous for a knock-out allele exhibit abnormal heart morphology and physiology. Mice heterozygous for a knock-in allele exhibit dilated or hypertrophic cardiomyopathy.|T|A|201|34.0|Non-synonymous|Cryopreserved
1323479|IGL00401|3|133466882|E->G|0.35|Benign|MGI:2443298|Tet2|tet oncogene family member 2 [Source:MGI Symbol;Acc:MGI:2443298]|Heterozygous|Mice homozygous for a gene trapped allele die shortly after birth and exhibit a loss of acidic granules in the proximal convoluted tubules of the kidneys. Mice homozygous for a conditional allele activated in hematopoeitic compartment exhibit self-renewal and myeloid transforamtion.|T|C|128|35.0|Non-synonymous|Cryopreserved
1323480|IGL00401|5|87242481|T->S|0.5|Possibly damaging|MGI:2148239|Ugt2b37|UDP glucuronosyltransferase 2 family, polypeptide B37 [Source:MGI Symbol;Acc:MGI:2148239]|Heterozygous||T|A|125|38.0|Non-synonymous|Cryopreserved
1323483|IGL00401|5|74003171|V->F|1.0|Probably damaging|MGI:1916977|Usp46|ubiquitin specific peptidase 46 [Source:MGI Symbol;Acc:MGI:1916977]|Heterozygous||C|A|87|37.0|Non-synonymous|Cryopreserved
1323484|IGL00401|9|107514873|V->E|1.0|Probably damaging|MGI:1929813|Cacna2d2|calcium channel, voltage-dependent, alpha 2/delta subunit 2 [Source:MGI Symbol;Acc:MGI:1929813]|Heterozygous||T|A|85|37.0|Non-synonymous|Cryopreserved
1323485|IGL00401|2|53114917|D->E|0.06|Benign|MGI:1918659|Fmnl2|formin-like 2 [Source:MGI Symbol;Acc:MGI:1918659]|Heterozygous||T|G|78|38.0|Non-synonymous|Cryopreserved
1323486|IGL00401|14|55498298|T->M|0.9|Possibly damaging|MGI:2448573|Lrrc16b|leucine rich repeat containing 16B [Source:MGI Symbol;Acc:MGI:2448573]|Heterozygous||C|T|77|35.0|Non-synonymous|Cryopreserved
1323487|IGL00401|7|16120125|D->G|0.62|Possibly damaging|MGI:1890380|Kptn|kaptin [Source:MGI Symbol;Acc:MGI:1890380]|Heterozygous||A|G|76|33.0|Non-synonymous|Cryopreserved
1323488|IGL00401|8|72384838|Y->Stop||N/A|MGI:104582|Eps15l1|epidermal growth factor receptor pathway substrate 15-like 1 [Source:MGI Symbol;Acc:MGI:104582]|Heterozygous||A|T|75|39.0|Non-synonymous|Cryopreserved
1323489|IGL00401|17|25244328|L->F|1.0|Probably damaging|MGI:2685783|Baiap3|BAI1-associated protein 3 [Source:MGI Symbol;Acc:MGI:2685783]|Heterozygous||T|G|71|34.0|Non-synonymous|Cryopreserved
1323490|IGL00401|3|69030379|D->E|0.41|Benign|MGI:1917349|Smc4|structural maintenance of chromosomes 4 [Source:MGI Symbol;Acc:MGI:1917349]|Heterozygous||T|A|65|37.0|Non-synonymous|Cryopreserved
1323491|IGL00401|4|34808683|C->R|0.05|Benign|MGI:1353423|Zfp292|zinc finger protein 292 [Source:MGI Symbol;Acc:MGI:1353423]|Heterozygous||A|G|60|37.5|Non-synonymous|Cryopreserved
1323493|IGL00401|10|117282185|V->I||Benign|MGI:96897|Lyz2|lysozyme 2 [Source:MGI Symbol;Acc:MGI:96897]|Heterozygous||C|T|58|38.0|Non-synonymous|Cryopreserved
1323494|IGL00401|18|77133211|C->S|1.0|Probably damaging|MGI:1096566|Pias2|protein inhibitor of activated STAT 2 [Source:MGI Symbol;Acc:MGI:1096566]|Heterozygous|An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.|T|A|54|39.0|Non-synonymous|Cryopreserved
1323495|IGL00401|1|31203566|K->R|1.0|Probably damaging|MGI:2672844|Lgsn|lengsin, lens protein with glutamine synthetase domain [Source:MGI Symbol;Acc:MGI:2672844]|Heterozygous||A|G|48|35.0|Non-synonymous|Cryopreserved
1323497|IGL00401|17|71895748|D->V|1.0|Probably damaging|MGI:103305|Alk|anaplastic lymphoma kinase [Source:MGI Symbol;Acc:MGI:103305]|Heterozygous||T|A|39|36.0|Non-synonymous|Cryopreserved
1323498|IGL00401|13|31559277|I->F|1.0|Probably damaging|MGI:1298228|Foxq1|forkhead box Q1 [Source:MGI Symbol;Acc:MGI:1298228]|Heterozygous|Mutations in this gene affect coat color and texture.|A|T|27|35.0|Non-synonymous|Cryopreserved
1323499|IGL00401|5|26118611|F->Y|0.88|Possibly damaging|MGI:3798181|Gm10220|predicted gene 10220 [Source:MGI Symbol;Acc:MGI:3798181]|Heterozygous||A|T|27|35.0|Non-synonymous|Cryopreserved
1323500|IGL00401|4|59035283|Q->Stop||N/A|MGI:1336169|Gng10|guanine nucleotide binding protein (G protein), gamma 10 [Source:MGI Symbol;Acc:MGI:1336169]|Heterozygous||C|T|11|35.0|Non-synonymous|Cryopreserved
1323505|IGL00401|1|153094117|Disrupted splicing||N/A|MGI:2444155|Nmnat2|nicotinamide nucleotide adenylyltransferase 2 [Source:MGI Symbol;Acc:MGI:2444155]|Heterozygous||A|G|148|38.0|Splice|Cryopreserved
1323506|IGL00401|2|54516535|Disrupted splicing||N/A|MGI:2139447|Galnt13|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 [Source:MGI Symbol;Acc:MGI:2139447]|Heterozygous|Galnt13 is expressed exclusively in neuronal cells. Conditional animals can be used with cre-expressing strains to produce total or tissue-specific deletion of this locus.|C|T|92|37.0|Splice|Cryopreserved
1323508|IGL00401|6|113564396|Disrupted splicing||N/A|MGI:2448480|Fancd2|Fanconi anemia, complementation group D2 [Source:MGI Symbol;Acc:MGI:2448480]|Heterozygous|Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.|T|C|75|37.0|Splice|Cryopreserved
1323509|IGL00401|9|66268778|Disrupted splicing||N/A|MGI:1341297|Dapk2|death-associated protein kinase 2 [Source:MGI Symbol;Acc:MGI:1341297]|Heterozygous||G|T|63|35.0|Splice|Cryopreserved
1323510|IGL00401|18|34938580|Disrupted splicing||N/A|MGI:96245|Hspa9|heat shock protein 9 [Source:MGI Symbol;Acc:MGI:96245]|Heterozygous||G|A|54|37.0|Splice|Cryopreserved
1323511|IGL00401|11|30821079|Disrupted splicing||N/A|MGI:2143994|Psme4|proteasome (prosome, macropain) activator subunit 4 [Source:MGI Symbol;Acc:MGI:2143994]|Heterozygous|Mice homozygous for a knock-out allele show normal repair of DNA double-strand breaks but exhibit significantly reduced male fertility due to defects in spermatogenesis observed in both meiotic spermatocytes and postmeiotic haploid spermatids.|T|C|33|36.0|Splice|Cryopreserved
1323512|IGL00401|5|36037401|Disrupted splicing||N/A|MGI:1932289|Sorcs2|sortilin-related VPS10 domain containing receptor 2 [Source:MGI Symbol;Acc:MGI:1932289]|Heterozygous||C|A|33|37.0|Splice|Cryopreserved
1323513|IGL00401|14|52296967|Disrupted splicing||N/A|MGI:1927165|Mettl3|methyltransferase like 3 [Source:MGI Symbol;Acc:MGI:1927165]|Heterozygous||T|A|31|35.0|Splice|Cryopreserved
1323514|IGL00401|11|77498956|Disrupted splicing||N/A|MGI:1927140|Git1|G protein-coupled receptor kinase-interactor 1 [Source:MGI Symbol;Acc:MGI:1927140]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethality associated with abnormal lung vascular development with surviving mice exhibiting abnormal learning and anxiety related behavior.|T|C|27|37.0|Splice|Cryopreserved
1352653|IGL00402|9|123780044|I->L||Benign|MGI:1341902|Ccr9|chemokine (C-C motif) receptor 9 [Source:MGI Symbol;Acc:MGI:1341902]|Heterozygous|Homozygous null mice have altered trafficing of lymphocytes to the intestine.|A|C|214|37.0|Non-synonymous|Cryopreserved
1352654|IGL00402|19|38107389|P->L||Benign|MGI:2147577|O3far1|omega-3 fatty acid receptor 1 [Source:MGI Symbol;Acc:MGI:2147577]|Heterozygous|Mice homozygous for a null mutation display diminished preference for and taste nerve response to fatty acids.|C|T|119|37.0|Non-synonymous|Cryopreserved
1352655|IGL00402|16|26722401|M->K||N/A|MGI:104975|Il1rap|interleukin 1 receptor accessory protein [Source:MGI Symbol;Acc:MGI:104975]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1.|T|A|103|36.0|Non-synonymous|Cryopreserved
1352656|IGL00402|10|13190583|V->I|0.06|Benign|MGI:2447810|Ltv1|LTV1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2447810]|Heterozygous||C|T|84|36.0|Non-synonymous|Cryopreserved
1352657|IGL00402|15|35926226|D->G|0.9|Possibly damaging|MGI:1916380|Vps13b|vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]|Heterozygous||A|G|84|35.5|Non-synonymous|Cryopreserved
1352658|IGL00402|5|76601459|S->P|0.9|Possibly damaging|MGI:2681869|Cep135|centrosomal protein 135 [Source:MGI Symbol;Acc:MGI:2681869]|Heterozygous||T|C|83|35.0|Non-synonymous|Cryopreserved
1352659|IGL00402|10|52349230|K->E|0.92|Possibly damaging|MGI:2149946|Gopc|golgi associated PDZ and coiled-coil motif containing [Source:MGI Symbol;Acc:MGI:2149946]|Heterozygous|Mice homozygous for a null allele show male sterility with globozoospermia characterized by a complete lack of acrosomes due to failure of vesicle transport from the Golgi apparatus, a malformed sperm nucleus, and abnormal mitochondrial arrangement in the mitochondrial sheath of mutant spermatozoa.|T|C|79|37.0|Non-synonymous|Cryopreserved
1352660|IGL00402|1|71641163|C->F|0.89|Possibly damaging|MGI:95566|Fn1|fibronectin 1 [Source:MGI Symbol;Acc:MGI:95566]|Heterozygous|Mutants are defective in mesodermal function. Null mutants are embryonic lethal with major patterning and organizational defects. Conditional mutants live and show increased neuronal apoptosis and susceptibility to induced cerebral ischemia.|C|A|76|35.0|Non-synonymous|Cryopreserved
1352661|IGL00402|15|79828929|V->A|0.5|Possibly damaging|MGI:3512628, MGI:3845555|Cbx6,npcd,cbx6|chromobox homolog 6 [Source:MGI Symbol;Acc:MGI:3512628],neuronal pentraxin chromo domain [Source:MGI Symbol;Acc:MGI:3845555],chromobox homolog 6 [Source:MGI Symbol;Acc:MGI:3512628]|Heterozygous||A|G|64|32.5|Non-synonymous|Cryopreserved
1352662|IGL00402|3|69745240|N->K|1.0|Probably damaging|MGI:2140103|Nmd3|NMD3 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2140103]|Heterozygous||T|A|64|38.5|Non-synonymous|Cryopreserved
1352663|IGL00402|17|24503889|I->T|0.96|Probably damaging|MGI:2442952|Caskin1|CASK interacting protein 1 [Source:MGI Symbol;Acc:MGI:2442952]|Heterozygous||T|C|62|35.0|Non-synonymous|Cryopreserved
1352665|IGL00402|12|51759432|H->R||Benign|MGI:2384768|Hectd1|HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]|Heterozygous|Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.|T|C|56|38.0|Non-synonymous|Cryopreserved
1352666|IGL00402|16|49001815|H->Q|1.0|Probably damaging|MGI:2146335|C330027c09rik|RIKEN cDNA C330027C09 gene [Source:MGI Symbol;Acc:MGI:2146335]|Heterozygous||T|A|55|39.0|Non-synonymous|Cryopreserved
1352667|IGL00402|9|106700561|M->L||Benign|MGI:1933196|Rad54l2|RAD54 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1933196]|Heterozygous|Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis.|T|A|55|36.0|Non-synonymous|Cryopreserved
1352668|IGL00402|17|24295191|L->H|1.0|Probably damaging|MGI:3625331|Abca17|ATP-binding cassette, sub-family A (ABC1), member 17 [Source:MGI Symbol;Acc:MGI:3625331]|Heterozygous||A|T|54|35.5|Non-synonymous|Cryopreserved
1352669|IGL00402|7|28508865|V->D|1.0|Probably damaging|MGI:3647279|Il28a|interleukin 28A [Source:MGI Symbol;Acc:MGI:3647279]|Heterozygous||A|T|53|35.0|Non-synonymous|Cryopreserved
1352670|IGL00402|2|104786981|V->A|0.02|Benign|MGI:2138986|Qser1|glutamine and serine rich 1 [Source:MGI Symbol;Acc:MGI:2138986]|Heterozygous||A|G|52|35.0|Non-synonymous|Cryopreserved
1352671|IGL00402|12|51769108|S->G|0.05|Benign|MGI:2384768|Hectd1|HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]|Heterozygous|Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.|T|C|49|37.0|Non-synonymous|Cryopreserved
1352672|IGL00402|17|65816019|S->P|0.95|Possibly damaging|MGI:1917601|Ppp4r1|protein phosphatase 4, regulatory subunit 1 [Source:MGI Symbol;Acc:MGI:1917601]|Heterozygous||T|C|49|38.0|Non-synonymous|Cryopreserved
1352673|IGL00402|18|34454718|V->D|1.0|Probably damaging|MGI:2447834|Fam13b|family with sequence similarity 13, member B [Source:MGI Symbol;Acc:MGI:2447834]|Heterozygous||A|T|49|35.0|Non-synonymous|Cryopreserved
1352674|IGL00402|13|55531399|T->A|1.0|Probably damaging|MGI:1920185|Ddx41|DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 [Source:MGI Symbol;Acc:MGI:1920185]|Heterozygous||T|C|48|31.5|Non-synonymous|Cryopreserved
1352675|IGL00402|11|110184709|L->I|1.0|Probably damaging|MGI:1923434|Abca6|ATP-binding cassette, sub-family A (ABC1), member 6 [Source:MGI Symbol;Acc:MGI:1923434]|Heterozygous||A|T|46|38.0|Non-synonymous|Cryopreserved
1352676|IGL00402|17|34734428|T->I|1.0|Probably damaging|MGI:88228|C4b|complement component 4B (Childo blood group) [Source:MGI Symbol;Acc:MGI:88228]|Heterozygous|Homozygous C4 deficient mice have compromised immune responses.|G|A|45|38.0|Non-synonymous|Cryopreserved
1352677|IGL00402|7|120133400|D->G||Benign|MGI:99214|Zp2|zona pellucida glycoprotein 2 [Source:MGI Symbol;Acc:MGI:99214]|Heterozygous|Female homozygous mutants exhibit a thin zona pellucida matrix in early ovarian follicles that becomes disassociated in pre-ovulatory follicles. Few oocytes are produced, and any that are fertilized fail to survive to the two-cell stage.|T|C|39|38.0|Non-synonymous|Cryopreserved
1352678|IGL00402|18|53409294|G->D|1.0|Probably damaging|MGI:97751|Ppic|peptidylprolyl isomerase C [Source:MGI Symbol;Acc:MGI:97751]|Heterozygous||C|T|38|37.5|Non-synonymous|Cryopreserved
1352679|IGL00402|11|80393085|M->K||Unknown|MGI:1340045|Zfp207|zinc finger protein 207 [Source:MGI Symbol;Acc:MGI:1340045]|Heterozygous||T|A|37|37.0|Non-synonymous|Cryopreserved
1352680|IGL00402|3|88024334|N->K||Benign|MGI:2137300|Hapln2|hyaluronan and proteoglycan link protein 2 [Source:MGI Symbol;Acc:MGI:2137300]|Heterozygous|Homozygous null mice display reduced nerve conduction velocity and abnormalities in the neuronal extracellular matrix.|A|T|31|33.0|Non-synonymous|Cryopreserved
1352681|IGL00402|8|99279690|D->E|0.87|Possibly damaging|MGI:107434|Cdh8|cadherin 8 [Source:MGI Symbol;Acc:MGI:107434]|Heterozygous||A|T|27|36.0|Non-synonymous|Cryopreserved
1352682|IGL00402|1|82491641|G->D||Unknown|MGI:104687|Col4a4|collagen, type IV, alpha 4 [Source:MGI Symbol;Acc:MGI:104687]|Heterozygous||C|T|26|37.0|Non-synonymous|Cryopreserved
1352683|IGL00402|8|13000857|S->P|0.61|Possibly damaging|MGI:103263|Mcf2l|mcf.2 transforming sequence-like [Source:MGI Symbol;Acc:MGI:103263]|Heterozygous||T|C|25|35.0|Non-synonymous|Cryopreserved
1352684|IGL00402|9|109819219|I->F||Benign|MGI:1925959|Spink8|serine peptidase inhibitor, Kazal type 8 [Source:MGI Symbol;Acc:MGI:1925959]|Heterozygous||A|T|25|36.0|Non-synonymous|Cryopreserved
1352685|IGL00402|14|12215992|L->Q||N/A|MGI:97814|Ptprg|protein tyrosine phosphatase, receptor type, G [Source:MGI Symbol;Acc:MGI:97814]|Heterozygous||T|A|24|38.0|Non-synonymous|Cryopreserved
1352687|IGL00402|7|101296153|S->R|0.15|Benign|MGI:1920933|Atg16l2|autophagy related 16 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1920933]|Heterozygous||A|C|20|37.0|Non-synonymous|Cryopreserved
1352688|IGL00402|11|73787580|I->N|1.0|Probably damaging|MGI:3030224|Olfr390|olfactory receptor 390 [Source:MGI Symbol;Acc:MGI:3030224]|Heterozygous||T|A|15|38.0|Non-synonymous|Cryopreserved
1352689|IGL00402|15|101860082|T->N||Unknown|MGI:3588209|Krt77|keratin 77 [Source:MGI Symbol;Acc:MGI:3588209]|Heterozygous||G|T|12|34.0|Non-synonymous|Cryopreserved
1352697|IGL00402|10|41721551|Disrupted splicing||N/A|MGI:1915511|Cep57l1|centrosomal protein 57-like 1 [Source:MGI Symbol;Acc:MGI:1915511]|Heterozygous||T|G|184|36.5|Splice|Cryopreserved
1352698|IGL00402|17|74573563|Disrupted splicing||N/A|MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|G|A|169|37.0|Splice|Cryopreserved
1352699|IGL00402|11|121238518|Disrupted splicing||N/A|MGI:1914858|Narf|nuclear prelamin A recognition factor [Source:MGI Symbol;Acc:MGI:1914858]|Heterozygous||G|A|64|35.0|Splice|Cryopreserved
1352700|IGL00402|9|96333703|Disrupted splicing||N/A|MGI:107788|Atp1b3|ATPase, Na+/K+ transporting, beta 3 polypeptide [Source:MGI Symbol;Acc:MGI:107788]|Heterozygous||T|C|47|35.0|Splice|Cryopreserved
1352701|IGL00402|17|78601907|Disrupted splicing||N/A|MGI:1921449|Vit|vitrin [Source:MGI Symbol;Acc:MGI:1921449]|Heterozygous||G|A|41|35.0|Splice|Cryopreserved
1352702|IGL00402|14|14096324|Disrupted splicing||N/A|MGI:2179277|Atxn7|ataxin 7 [Source:MGI Symbol;Acc:MGI:2179277]|Heterozygous|Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age.|T|G|35|35.0|Splice|Cryopreserved
1352703|IGL00402|14|65738415|Disrupted splicing||N/A|MGI:1918395|Scara5|scavenger receptor class A, member 5 (putative) [Source:MGI Symbol;Acc:MGI:1918395]|Heterozygous||A|C|30|37.0|Splice|Cryopreserved
1352704|IGL00402|11|72403259|Disrupted splicing||N/A|MGI:2442764|Smtnl2|smoothelin-like 2 [Source:MGI Symbol;Acc:MGI:2442764]|Heterozygous||C|T|28|35.5|Splice|Cryopreserved
1352705|IGL00402|12|7993065|Disrupted splicing||N/A|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|C|T|24|37.0|Splice|Cryopreserved
1352706|IGL00402|17|24698936|Disrupted splicing||N/A|MGI:1919143|Noxo1|NADPH oxidase organizer 1 [Source:MGI Symbol;Acc:MGI:1919143]|Heterozygous|Mutations at this locus affect the inner ear and result in vestibular related movement anomalies.|C|T|19|35.0|Splice|Cryopreserved
1381270|IGL00403|2|76789525|V->A|0.97|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|143|33.0|Non-synonymous|Cryopreserved
1381271|IGL00403|19|29301715|Q->H||Benign|MGI:96629|Jak2|Janus kinase 2 [Source:MGI Symbol;Acc:MGI:96629]|Heterozygous|Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.|A|C|108|38.0|Non-synonymous|Cryopreserved
1381272|IGL00403|1|163047866|D->G|0.41|Benign|MGI:1925508|4921528o07rik|RIKEN cDNA 4921528O07 gene [Source:MGI Symbol;Acc:MGI:1925508]|Heterozygous||T|C|103|37.0|Non-synonymous|Cryopreserved
1381273|IGL00403|15|8350455|V->A|0.21|Benign|MGI:1913976|Nipbl|Nipped-B homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1913976]|Heterozygous|Mice heterozygous for a gene trap allele exhibit increased mortality from birth to early adulthood, decreased weight, decreased adipose tissue, delayed ossification, craniofacial abnormalities, and abnormal hearing, behavior, and eye morphology.|A|G|99|35.0|Non-synonymous|Cryopreserved
1381274|IGL00403|1|59484380|V->A|1.0|Probably damaging|MGI:108570|Fzd7|frizzled homolog 7 (Drosophila) [Source:MGI Symbol;Acc:MGI:108570]|Heterozygous||T|C|96|35.0|Non-synonymous|Cryopreserved
1381275|IGL00403|15|101423421|L->Q|0.35|Benign|MGI:96704|Krt7|keratin 7 [Source:MGI Symbol;Acc:MGI:96704]|Heterozygous||T|A|95|35.0|Non-synonymous|Cryopreserved
1381276|IGL00403|15|58054679|D->G|0.86|Possibly damaging|MGI:109271|Zhx1|zinc fingers and homeoboxes 1 [Source:MGI Symbol;Acc:MGI:109271]|Heterozygous||T|C|94|37.0|Non-synonymous|Cryopreserved
1381277|IGL00403|10|34407557|A->T|0.87|Possibly damaging|MGI:2442446|Nt5dc1|5'-nucleotidase domain containing 1 [Source:MGI Symbol;Acc:MGI:2442446]|Heterozygous||C|T|91|37.0|Non-synonymous|Cryopreserved
1381278|IGL00403|2|76799224|I->T|0.6|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|90|35.0|Non-synonymous|Cryopreserved
1381280|IGL00403|17|71077917|N->D|1.0|Probably damaging|MGI:1341430|Myom1|myomesin 1 [Source:MGI Symbol;Acc:MGI:1341430]|Heterozygous||A|G|76|34.0|Non-synonymous|Cryopreserved
1381281|IGL00403|15|66613132|R->C|1.0|Probably damaging|MGI:2444412|Phf20l1|PHD finger protein 20-like 1 [Source:MGI Symbol;Acc:MGI:2444412]|Heterozygous||C|T|73|36.0|Non-synonymous|Cryopreserved
1381282|IGL00403|18|37006814|R->W||N/A|MGI:2150982|Pcdha1|protocadherin alpha 1 [Source:MGI Symbol;Acc:MGI:2150982]|Heterozygous|Mice homozygous for a null allele are viable and fertile.|A|T|73|33.0|Non-synonymous|Cryopreserved
1381283|IGL00403|14|55064260|E->G|1.0|Probably damaging|MGI:2686934|Zfhx2|zinc finger homeobox 2 [Source:MGI Symbol;Acc:MGI:2686934]|Heterozygous||T|C|70|37.0|Non-synonymous|Cryopreserved
1381284|IGL00403|1|93430169|I->V||Benign|MGI:99256|Hdlbp|high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]|Heterozygous||T|C|67|35.0|Non-synonymous|Cryopreserved
1381285|IGL00403|18|12481037|V->I|0.05|Benign|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|G|A|62|35.0|Non-synonymous|Cryopreserved
1381286|IGL00403|11|59551887|M->K|0.06|Benign|MGI:2653833|Nlrp3|NLR family, pyrin domain containing 3 [Source:MGI Symbol;Acc:MGI:2653833]|Heterozygous|Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.|T|A|59|36.0|Non-synonymous|Cryopreserved
1381288|IGL00403|11|101073947|P->S||Benign|MGI:1351641|Naglu|alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) [Source:MGI Symbol;Acc:MGI:1351641]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons.|C|T|53|35.0|Non-synonymous|Cryopreserved
1381290|IGL00403|9|7162789|I->T|1.0|Probably damaging|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|A|G|53|36.0|Non-synonymous|Cryopreserved
1381291|IGL00403|2|156052185|V->A|0.8|Possibly damaging|MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||A|G|52|34.5|Non-synonymous|Cryopreserved
1381292|IGL00403|2|107296391|V->A|0.95|Probably damaging|MGI:96661|Kcna4|potassium voltage-gated channel, shaker-related subfamily, member 4 [Source:MGI Symbol;Acc:MGI:96661]|Heterozygous||T|C|51|36.0|Non-synonymous|Cryopreserved
1381293|IGL00403|9|100951657|T->A|0.93|Possibly damaging|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||A|G|51|34.0|Non-synonymous|Cryopreserved
1381294|IGL00403|11|99048243|H->Y|0.01|Benign|MGI:96439|Igfbp4|insulin-like growth factor binding protein 4 [Source:MGI Symbol;Acc:MGI:96439]|Heterozygous||C|T|50|35.0|Non-synonymous|Cryopreserved
1381295|IGL00403|15|97976173|K->R||Unknown|MGI:88452|Col2a1|collagen, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:88452]|Heterozygous|Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.|T|C|50|35.5|Non-synonymous|Cryopreserved
1381296|IGL00403|6|128325884|I->S|0.78|Possibly damaging|MGI:1329045|Tulp3|tubby-like protein 3 [Source:MGI Symbol;Acc:MGI:1329045]|Heterozygous|Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos.|A|C|45|32.0|Non-synonymous|Cryopreserved
1381297|IGL00403|7|43532905|V->M|1.0|Probably damaging|MGI:99440|Cd33|CD33 antigen [Source:MGI Symbol;Acc:MGI:99440]|Heterozygous|Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation.|C|T|45|38.0|Non-synonymous|Cryopreserved
1381298|IGL00403|19|39639932|Y->Stop||N/A|MGI:3612288|Cyp2c67|cytochrome P450, family 2, subfamily c, polypeptide 67 [Source:MGI Symbol;Acc:MGI:3612288]|Heterozygous||A|C|43|36.0|Non-synonymous|Cryopreserved
1381299|IGL00403|14|31180941|F->I||Unknown|MGI:1928323|Nisch|nischarin [Source:MGI Symbol;Acc:MGI:1928323]|Heterozygous||A|T|40|34.0|Non-synonymous|Cryopreserved
1381300|IGL00403|7|46254950|E->K|1.0|Probably damaging|MGI:1202064|Otog|otogelin [Source:MGI Symbol;Acc:MGI:1202064]|Heterozygous|Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities.|G|A|39|35.0|Non-synonymous|Cryopreserved
1381301|IGL00403|1|20209176|G->R|0.11|Benign|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|C|T|38|39.0|Non-synonymous|Cryopreserved
1381302|IGL00403|4|155902219|V->M|0.46|Possibly damaging|MGI:2153589|Acap3|ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Source:MGI Symbol;Acc:MGI:2153589]|Heterozygous||G|A|37|34.0|Non-synonymous|Cryopreserved
1381303|IGL00403|6|83262533|L->Q|0.99|Probably damaging|MGI:2443220|Slc4a5|solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:MGI Symbol;Acc:MGI:2443220]|Heterozygous||T|A|36|38.5|Non-synonymous|Cryopreserved
1381304|IGL00403|11|69643887|H->R|1.0|Probably damaging|MGI:1346074|Fxr2|fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.|A|G|35|35.0|Non-synonymous|Cryopreserved
1381305|IGL00403|14|50926254|L->F|0.02|Benign|MGI:88042|Apex1|apurinic/apyrimidinic endonuclease 1 [Source:MGI Symbol;Acc:MGI:88042]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10 associated with abnormal embryogenesis.|C|T|35|35.0|Non-synonymous|Cryopreserved
1381306|IGL00403|4|53737568|L->P|0.13|Benign|MGI:2179507|Fktn|fukutin [Source:MGI Symbol;Acc:MGI:2179507]|Heterozygous|Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes.|T|C|34|36.5|Non-synonymous|Cryopreserved
1381307|IGL00403|5|30384253|L->P|0.24|Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|G|34|36.5|Non-synonymous|Cryopreserved
1381308|IGL00403|8|110326401|V->A|0.95|Possibly damaging|MGI:2389007|Hydin|hydrocephalus inducing [Source:MGI Symbol;Acc:MGI:2389007]|Heterozygous|Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.|T|C|34|35.0|Non-synonymous|Cryopreserved
1381309|IGL00403|7|25288990|A->V|0.95|Possibly damaging|MGI:1918972|Cic|capicua homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1918972]|Heterozygous||C|T|30|35.5|Non-synonymous|Cryopreserved
1381310|IGL00403|9|21811807|E->G|0.12|Benign|MGI:1914789|Dock6|dedicator of cytokinesis 6 [Source:MGI Symbol;Acc:MGI:1914789]|Heterozygous||T|C|30|35.5|Non-synonymous|Cryopreserved
1381311|IGL00403|3|37046280|H->Q|0.91|Possibly damaging|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||T|A|22|34.0|Non-synonymous|Cryopreserved
1381312|IGL00403|14|79384756|T->A|1.0|Probably damaging|MGI:1914147|Naa16|N(alpha)-acetyltransferase 16, NatA auxiliary subunit [Source:MGI Symbol;Acc:MGI:1914147]|Heterozygous||T|C|21|35.0|Non-synonymous|Cryopreserved
1381313|IGL00403|4|152108526|D->Y|1.0|Probably damaging|MGI:2652860|Plekhg5|pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:MGI Symbol;Acc:MGI:2652860]|Heterozygous|Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.|G|T|20|34.0|Non-synonymous|Cryopreserved
1381314|IGL00403|5|110848670|D->G|1.0|Probably damaging|MGI:1355321|Chek2|CHK2 checkpoint homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1355321]|Heterozygous|Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis.|A|G|20|34.5|Non-synonymous|Cryopreserved
1381320|IGL00403|19|8116908|Disrupted splicing||N/A|MGI:3645714, MGI:3054746|Gm5631|predicted gene 5631 [Source:MGI Symbol;Acc:MGI:3645714]|Heterozygous||G|T|77|38.0|Splice|Cryopreserved
1381321|IGL00403|7|23353161|Disrupted splicing||N/A|MGI:3056600|Nlrp4e|NLR family, pyrin domain containing 4E [Source:MGI Symbol;Acc:MGI:3056600]|Heterozygous||T|C|55|37.0|Splice|Cryopreserved
1381323|IGL00403|3|103353918|Disrupted splicing||N/A|MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|G|A|26|38.0|Splice|Cryopreserved
1381324|IGL00403|10|122878629|Disrupted splicing||N/A|MGI:2442087|Ppm1h|protein phosphatase 1H (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:2442087]|Heterozygous||T|A|16|35.0|Splice|Cryopreserved
1409863|IGL00404|15|44420826|M->L|0.25|Benign|MGI:1914679|Nudcd1|NudC domain containing 1 [Source:MGI Symbol;Acc:MGI:1914679]|Heterozygous||T|A|168|38.0|Non-synonymous|Cryopreserved
1409864|IGL00404|9|14782803|F->L|0.78|Possibly damaging|MGI:1930842|Ankrd49|ankyrin repeat domain 49 [Source:MGI Symbol;Acc:MGI:1930842]|Heterozygous||A|G|104|35.0|Non-synonymous|Cryopreserved
1409865|IGL00404|13|58288201|E->D|0.9|Possibly damaging|MGI:1922300|Kif27|kinesin family member 27 [Source:MGI Symbol;Acc:MGI:1922300]|Heterozygous||T|A|102|37.0|Non-synonymous|Cryopreserved
1409866|IGL00404|6|40643010|K->R||Benign|MGI:1203495|Mgam|maltase-glucoamylase [Source:MGI Symbol;Acc:MGI:1203495]|Heterozygous|Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.|A|G|101|35.0|Non-synonymous|Cryopreserved
1409867|IGL00404|3|72911876|L->S|1.0|Probably damaging|MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||A|G|95|37.0|Non-synonymous|Cryopreserved
1409869|IGL00404|15|101736674|A->T|0.99|Probably damaging|MGI:1861586|Krt71|keratin 71 [Source:MGI Symbol;Acc:MGI:1861586]|Heterozygous|A number of independent spontaneous mutations in this gene all show a similar dominant phenotype, with curved vibrissae and wavy hair. ENU mutants have also been characterized for abnormalities of keratinization in the inner root sheath of the hair follicle, including one recessive allele.|C|T|86|30.0|Non-synonymous|Cryopreserved
1409870|IGL00404|3|103760636|N->K|0.38|Benign|MGI:1314873|Hipk1|homeodomain interacting protein kinase 1 [Source:MGI Symbol;Acc:MGI:1314873]|Heterozygous|Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.|G|T|86|37.0|Non-synonymous|Cryopreserved
1409871|IGL00404|17|3683015|I->N|0.95|Possibly damaging|MGI:2681162|Nox3|NADPH oxidase 3 [Source:MGI Symbol;Acc:MGI:2681162]|Heterozygous||A|T|84|37.0|Non-synonymous|Cryopreserved
1409872|IGL00404|5|53067630|V->D|0.22|Benign|MGI:1342284|Slc34a2|solute carrier family 34 (sodium phosphate), member 2 [Source:MGI Symbol;Acc:MGI:1342284]|Heterozygous|Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling.|T|A|82|36.0|Non-synonymous|Cryopreserved
1409873|IGL00404|11|16281874|V->D|0.77|Possibly damaging|MGI:2384826|Vstm2a|V-set and transmembrane domain containing 2A [Source:MGI Symbol;Acc:MGI:2384826]|Heterozygous||T|A|79|35.0|Non-synonymous|Cryopreserved
1409874|IGL00404|11|101048439|I->V||Benign|MGI:103286|Atp6v0a1|ATPase, H+ transporting, lysosomal V0 subunit A1 [Source:MGI Symbol;Acc:MGI:103286]|Heterozygous||A|G|79|35.0|Non-synonymous|Cryopreserved
1409875|IGL00404|2|72223018|Y->H|1.0|Probably damaging|MGI:1917723|Rapgef4|Rap guanine nucleotide exchange factor (GEF) 4 [Source:MGI Symbol;Acc:MGI:1917723]|Heterozygous|Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis.|T|C|72|37.5|Non-synonymous|Cryopreserved
1409876|IGL00404|4|144208475|I->K|0.33|Benign|MGI:2140708|C87977|expressed sequence C87977 [Source:MGI Symbol;Acc:MGI:2140708]|Heterozygous||A|T|72|36.0|Non-synonymous|Cryopreserved
1409877|IGL00404|14|51049864|I->V|0.03|Benign|MGI:3528583|Rnase11|ribonuclease, RNase A family, 11 (non-active) [Source:MGI Symbol;Acc:MGI:3528583]|Heterozygous||T|C|71|37.0|Non-synonymous|Cryopreserved
1409878|IGL00404|12|69305836|N->K|0.16|Benign|MGI:1916804|Klhdc2|kelch domain containing 2 [Source:MGI Symbol;Acc:MGI:1916804]|Heterozygous||T|A|69|38.0|Non-synonymous|Cryopreserved
1409879|IGL00404|16|16923769|T->K|0.02|Benign|MGI:1918464|Ppm1f|protein phosphatase 1F (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:1918464]|Heterozygous|Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.|C|A|68|36.0|Non-synonymous|Cryopreserved
1409881|IGL00404|3|79070138|I->V|0.57|Possibly damaging|MGI:2659071|Rapgef2|Rap guanine nucleotide exchange factor (GEF) 2 [Source:MGI Symbol;Acc:MGI:2659071]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E12.5 associated with impaired embryo hematopoeisis.|T|C|63|36.0|Non-synonymous|Cryopreserved
1409882|IGL00404|3|99316246|D->V|0.65|Possibly damaging|MGI:1277234|Tbx15|T-box 15 [Source:MGI Symbol;Acc:MGI:1277234]|Heterozygous|Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning.|A|T|57|35.0|Non-synonymous|Cryopreserved
1409884|IGL00404|7|126664931|R->Q|0.32|Benign|MGI:1922815|Ccdc101|coiled-coil domain containing 101 [Source:MGI Symbol;Acc:MGI:1922815]|Heterozygous||G|A|49|35.0|Non-synonymous|Cryopreserved
1409885|IGL00404|11|110197142|Y->F||Benign|MGI:1923434|Abca6|ATP-binding cassette, sub-family A (ABC1), member 6 [Source:MGI Symbol;Acc:MGI:1923434]|Heterozygous||T|A|46|37.0|Non-synonymous|Cryopreserved
1409886|IGL00404|7|80247340|I->F|0.07|Benign|MGI:1920845|Ttll13|tubulin tyrosine ligase-like family, member 13 [Source:MGI Symbol;Acc:MGI:1920845]|Heterozygous||A|T|46|35.0|Non-synonymous|Cryopreserved
1409888|IGL00404|17|88671291|K->R|0.98|Probably damaging|MGI:1919078|Gtf2a1l|general transcription factor IIA, 1-like [Source:MGI Symbol;Acc:MGI:1919078]|Heterozygous||A|G|40|35.0|Non-synonymous|Cryopreserved
1409889|IGL00404|14|31052260|R->H|0.9|Possibly damaging|MGI:1923998|Pbrm1|polybromo 1 [Source:MGI Symbol;Acc:MGI:1923998]|Heterozygous|Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.|G|A|39|38.0|Non-synonymous|Cryopreserved
1409890|IGL00404|16|91655910|T->K|0.97|Probably damaging|MGI:98353|Son|Son DNA binding protein [Source:MGI Symbol;Acc:MGI:98353]|Heterozygous||C|A|38|34.0|Non-synonymous|Cryopreserved
1409891|IGL00404|7|126764774|K->Stop||N/A|MGI:1346859|Mapk3|mitogen-activated protein kinase 3 [Source:MGI Symbol;Acc:MGI:1346859]|Heterozygous|Mice homozygous for a targeted null mutation are hyperactive with impaired T cell maturation and proliferation. Mice homozygous for a knock-out allele on a CD-1 background exhibit normal Mendelian ratios, growth, and no obvious abnormalities.|A|T|38|35.0|Non-synonymous|Cryopreserved
1409892|IGL00404|13|91781211|Q->Stop||N/A|MGI:1921406|Acot12|acyl-CoA thioesterase 12 [Source:MGI Symbol;Acc:MGI:1921406]|Heterozygous||C|T|31|36.0|Non-synonymous|Cryopreserved
1409893|IGL00404|6|83049006|T->A|0.48|Possibly damaging|MGI:1337004|Loxl3|lysyl oxidase-like 3 [Source:MGI Symbol;Acc:MGI:1337004]|Heterozygous||A|G|30|35.0|Non-synonymous|Cryopreserved
1409894|IGL00404|2|127541139|N->S||Benign|MGI:2138997|Prom2|prominin 2 [Source:MGI Symbol;Acc:MGI:2138997]|Heterozygous||T|C|27|33.0|Non-synonymous|Cryopreserved
1409895|IGL00404|13|70795484|V->A||Benign|MGI:2429637|Adamts16|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 16 [Source:MGI Symbol;Acc:MGI:2429637]|Heterozygous||A|G|24|37.0|Non-synonymous|Cryopreserved
1409896|IGL00404|5|134510212|D->G|1.0|Probably damaging|MGI:1313136|Clip2|CAP-GLY domain containing linker protein 2 [Source:MGI Symbol;Acc:MGI:1313136]|Heterozygous|Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination.|T|C|24|35.0|Non-synonymous|Cryopreserved
1409897|IGL00404|12|29987099|N->T|0.82|Possibly damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||A|C|23|37.0|Non-synonymous|Cryopreserved
1409900|IGL00404|17|34309666|Y->F||Benign|MGI:95901|H2-eb1|histocompatibility 2, class II antigen E beta [Source:MGI Symbol;Acc:MGI:95901]|Heterozygous||A|T|19|36.0|Non-synonymous|Cryopreserved
1409901|IGL00404|2|126603846|V->A|0.2|Benign|MGI:96062|Hdc|histidine decarboxylase [Source:MGI Symbol;Acc:MGI:96062]|Heterozygous||A|G|16|32.0|Non-synonymous|Cryopreserved
1409902|IGL00404|11|5795494|P->H|1.0|Probably damaging|MGI:700006|Dbnl|drebrin-like [Source:MGI Symbol;Acc:MGI:700006]|Heterozygous|Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed.|C|A|15|36.0|Non-synonymous|Cryopreserved
1409903|IGL00404|14|48256579|D->E|1.0|Probably damaging|MGI:1891445|Peli2|pellino 2 [Source:MGI Symbol;Acc:MGI:1891445]|Heterozygous||C|A|13|35.0|Non-synonymous|Cryopreserved
1409904|IGL00404|4|68762494|W->R|0.9|Possibly damaging|MGI:1928478|Dbc1|deleted in bladder cancer 1 (human) [Source:MGI Symbol;Acc:MGI:1928478]|Heterozygous||A|T|13|39.0|Non-synonymous|Cryopreserved
1409905|IGL00404|5|104521746|V->G|0.03|Benign|MGI:3040669|Bc005561|cDNA sequence BC005561 [Source:MGI Symbol;Acc:MGI:3040669]|Heterozygous||T|G|13|37.0|Non-synonymous|Cryopreserved
1409906|IGL00404|7|122067006|P->Q||Benign|MGI:1914667|Ears2|glutamyl-tRNA synthetase 2 (mitochondrial)(putative) [Source:MGI Symbol;Acc:MGI:1914667]|Heterozygous||G|T|13|33.0|Non-synonymous|Cryopreserved
1409907|IGL00404|7|45632806|Q->K|0.06|Benign|MGI:1917153|Rasip1|Ras interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917153]|Heterozygous|Mice homozygous for a targeted mutation exhibit complete embryonic lethality during organogenesis associated with a failure in cardiovascular development.|C|A|12|35.0|Non-synonymous|Cryopreserved
1409908|IGL00404|8|123117624|S->I||Benign|MGI:2142747|Cpne7|copine VII [Source:MGI Symbol;Acc:MGI:2142747]|Heterozygous||G|T|11|33.0|Non-synonymous|Cryopreserved
1409920|IGL00404|5|87080869|Disrupted splicing||N/A|MGI:3576103|Ugt2b36|UDP glucuronosyltransferase 2 family, polypeptide B36 [Source:MGI Symbol;Acc:MGI:3576103]|Heterozygous||C|T|95|37.0|Splice|Cryopreserved
1409921|IGL00404|14|55588436|Disrupted splicing||N/A|MGI:1096365|Psme2|proteasome (prosome, macropain) 28 subunit, beta [Source:MGI Symbol;Acc:MGI:1096365]|Heterozygous|Homozygous disruption of this gene results in impaired cytotoxic T lymphocyte responses and immunoproteasome assembly.|A|G|91|36.0|Splice|Cryopreserved
1409922|IGL00404|11|69968422|Disrupted splicing||N/A|MGI:1859017|Rai12|retinoic acid induced 12 [Source:MGI Symbol;Acc:MGI:1859017]|Heterozygous||T|C|71|37.0|Splice|Cryopreserved
1409923|IGL00404|13|98686518|Disrupted splicing||N/A|MGI:2685751|Tmem171|transmembrane protein 171 [Source:MGI Symbol;Acc:MGI:2685751]|Heterozygous||T|A|68|37.0|Splice|Cryopreserved
1409924|IGL00404|2|158740816|Disrupted splicing||N/A|MGI:2151841|Ppp1r16b|protein phosphatase 1, regulatory (inhibitor) subunit 16B [Source:MGI Symbol;Acc:MGI:2151841]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis.|C|T|45|34.0|Splice|Cryopreserved
1409925|IGL00404|9|119070350|Disrupted splicing||N/A|MGI:1201781|Vill|villin-like [Source:MGI Symbol;Acc:MGI:1201781]|Heterozygous||G|A|39|36.0|Splice|Cryopreserved
1409926|IGL00404|5|21801198|Disrupted splicing||N/A|MGI:109555|Psmc2|proteasome (prosome, macropain) 26S subunit, ATPase 2 [Source:MGI Symbol;Acc:MGI:109555]|Heterozygous||T|C|30|37.5|Splice|Cryopreserved
1409927|IGL00404|3|122274415|Disrupted splicing||N/A|MGI:1923173|Dnttip2|deoxynucleotidyltransferase, terminal, interacting protein 2 [Source:MGI Symbol;Acc:MGI:1923173]|Heterozygous||A|G|25|35.0|Splice|Cryopreserved
1409928|IGL00404|4|135701223|Disrupted splicing||N/A|MGI:2429859|Il28ra|interleukin 28 receptor alpha [Source:MGI Symbol;Acc:MGI:2429859]|Heterozygous|Homozygous null mice are viable and normal with respect to viral infection, however antiviral response evoked by TLRs are significantly reduced.|G|A|19|35.0|Splice|Cryopreserved
1409929|IGL00404|6|97179025|Disrupted splicing||N/A|MGI:2684999|Tmf1|TATA element modulatory factor 1 [Source:MGI Symbol;Acc:MGI:2684999]|Heterozygous||G|T|15|34.0|Splice|Cryopreserved
1438511|IGL00405|6|132957801|L->Q|1.0|Probably damaging|MGI:2681280|Tas2r131|taste receptor, type 2, member 131 [Source:MGI Symbol;Acc:MGI:2681280]|Heterozygous||A|T|118|38.0|Non-synonymous|Cryopreserved
1438513|IGL00405|8|61942514|I->F|0.92|Possibly damaging|MGI:2384570|Ddx60|DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 [Source:MGI Symbol;Acc:MGI:2384570]|Heterozygous||A|T|99|37.0|Non-synonymous|Cryopreserved
1438514|IGL00405|7|131326174|C->Stop||N/A|MGI:1916568|1700007k09rik|RIKEN cDNA 1700007K09 gene [Source:MGI Symbol;Acc:MGI:1916568]|Heterozygous||A|T|95|35.0|Non-synonymous|Cryopreserved
1438515|IGL00405|8|72495874|F->L|0.88|Possibly damaging|MGI:1917875|Med26|mediator complex subunit 26 [Source:MGI Symbol;Acc:MGI:1917875]|Heterozygous||A|T|84|36.5|Non-synonymous|Cryopreserved
1438516|IGL00405|2|128629729|L->P|0.98|Probably damaging|MGI:103097|Anapc1|anaphase promoting complex subunit 1 [Source:MGI Symbol;Acc:MGI:103097]|Heterozygous||A|G|80|37.0|Non-synonymous|Cryopreserved
1438517|IGL00405|3|92572687|S->P||Unknown|MGI:96626|Ivl|involucrin [Source:MGI Symbol;Acc:MGI:96626]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|76|37.0|Non-synonymous|Cryopreserved
1438518|IGL00405|11|3863387|I->V||Benign|MGI:1921559|Osbp2|oxysterol binding protein 2 [Source:MGI Symbol;Acc:MGI:1921559]|Heterozygous||T|C|66|34.0|Non-synonymous|Cryopreserved
1438519|IGL00405|12|98231422|V->I|0.01|Benign|MGI:95636|Galc|galactosylceramidase [Source:MGI Symbol;Acc:MGI:95636]|Heterozygous|Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age.|C|T|66|38.0|Non-synonymous|Cryopreserved
1438520|IGL00405|13|106897259|F->L|0.11|Benign|MGI:2442377|Ipo11|importin 11 [Source:MGI Symbol;Acc:MGI:2442377]|Heterozygous||A|T|64|38.0|Non-synonymous|Cryopreserved
1438521|IGL00405|3|103903374|I->M||Benign|MGI:107170|Ptpn22|protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [Source:MGI Symbol;Acc:MGI:107170]|Heterozygous|Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels.|A|G|64|37.0|Non-synonymous|Cryopreserved
1438522|IGL00405|9|37429551|T->A|0.33|Benign|MGI:1343102|Robo3|roundabout homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1343102]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.|T|C|64|34.0|Non-synonymous|Cryopreserved
1438523|IGL00405|16|4611650|R->C|1.0|Probably damaging|MGI:1932535|Glis2|GLIS family zinc finger 2 [Source:MGI Symbol;Acc:MGI:1932535]|Heterozygous|Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis.|C|T|61|35.0|Non-synonymous|Cryopreserved
1438524|IGL00405|9|110547513|S->Stop||N/A|MGI:1918177|Setd2|SET domain containing 2 [Source:MGI Symbol;Acc:MGI:1918177]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5.|C|A|61|37.0|Non-synonymous|Cryopreserved
1438526|IGL00405|5|36967917|C->Stop||N/A|MGI:1328355|Wfs1|Wolfram syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1328355]|Heterozygous|Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance. Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.|A|T|59|34.0|Non-synonymous|Cryopreserved
1438527|IGL00405|8|71661825|E->K||Unknown|MGI:3051532|Unc13a|unc-13 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:3051532]|Heterozygous||C|T|59|34.0|Non-synonymous|Cryopreserved
1438528|IGL00405|10|77070975|V->M|0.19|Benign|MGI:88451|Col18a1|collagen, type XVIII, alpha 1 [Source:MGI Symbol;Acc:MGI:88451]|Heterozygous|Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.|C|T|58|35.0|Non-synonymous|Cryopreserved
1438529|IGL00405|3|95140415|S->P|1.0|Probably damaging|MGI:1917019|Tnfaip8l2|tumor necrosis factor, alpha-induced protein 8-like 2 [Source:MGI Symbol;Acc:MGI:1917019]|Heterozygous|About 50% of mice homozygous for a null allele die prematurely of a chronic disease characterized by weight loss, splenomegaly, leukocytosis, and multiorgan inflammation; mutants are hypersensitive to septic shock while cells are hyperresponsive to Toll-like receptor and T cell receptor activation.|A|G|57|35.0|Non-synonymous|Cryopreserved
1438533|IGL00405|9|73113563|F->L|0.41|Benign|MGI:2681840|Rsl24d1|ribosomal L24 domain containing 1 [Source:MGI Symbol;Acc:MGI:2681840]|Heterozygous||T|C|48|35.0|Non-synonymous|Cryopreserved
1438534|IGL00405|4|138240629|V->A|0.99|Probably damaging|MGI:109369|Hp1bp3|heterochromatin protein 1, binding protein 3 [Source:MGI Symbol;Acc:MGI:109369]|Heterozygous||T|C|46|35.0|Non-synonymous|Cryopreserved
1438535|IGL00405|4|133422143|E->G||Benign|MGI:102462|Slc9a1|solute carrier family 9 (sodium/hydrogen exchanger), member 1 [Source:MGI Symbol;Acc:MGI:102462]|Heterozygous|Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.|A|G|45|35.0|Non-synonymous|Cryopreserved
1438536|IGL00405|2|174092409|H->L|1.0|Probably damaging|MGI:1923396|Stx16|syntaxin 16 [Source:MGI Symbol;Acc:MGI:1923396]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype.|A|T|44|35.0|Non-synonymous|Cryopreserved
1438537|IGL00405|5|18003828|S->P|1.0|Probably damaging|MGI:3588268|Gnat3|guanine nucleotide binding protein, alpha transducing 3 [Source:MGI Symbol;Acc:MGI:3588268]|Heterozygous||T|C|42|36.0|Non-synonymous|Cryopreserved
1438538|IGL00405|7|6375588|G->D|0.99|Probably damaging|MGI:107783|Zfp78|zinc finger protein 78 [Source:MGI Symbol;Acc:MGI:107783]|Heterozygous||G|A|42|37.0|Non-synonymous|Cryopreserved
1438539|IGL00405|6|116043027|L->P|0.88|Possibly damaging|MGI:2442900|Tmcc1|transmembrane and coiled coil domains 1 [Source:MGI Symbol;Acc:MGI:2442368]|Heterozygous||A|G|37|36.0|Non-synonymous|Cryopreserved
1438540|IGL00405|8|122357142|C->F||Benign|MGI:2177284|Trhr2|thyrotropin releasing hormone receptor 2 [Source:MGI Symbol;Acc:MGI:2177284]|Heterozygous||C|A|37|37.0|Non-synonymous|Cryopreserved
1438541|IGL00405|5|37276313|D->V|0.98|Probably damaging|MGI:107793|Crmp1|collapsin response mediator protein 1 [Source:MGI Symbol;Acc:MGI:107793]|Heterozygous|Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning.|A|T|34|35.0|Non-synonymous|Cryopreserved
1438542|IGL00405|17|55988245|Y->C|1.0|Probably damaging|MGI:1934858|Fsd1|fibronectin type 3 and SPRY domain-containing protein [Source:MGI Symbol;Acc:MGI:1934858]|Heterozygous||A|G|31|35.0|Non-synonymous|Cryopreserved
1438543|IGL00405|2|91565780|L->V||Benign|MGI:1923036|Ckap5|cytoskeleton associated protein 5 [Source:MGI Symbol;Acc:MGI:1923036]|Heterozygous||T|G|31|36.0|Non-synonymous|Cryopreserved
1438545|IGL00405|5|104520500|W->R|1.0|Probably damaging|MGI:3040669|Bc005561|cDNA sequence BC005561 [Source:MGI Symbol;Acc:MGI:3040669]|Heterozygous||T|A|27|37.0|Non-synonymous|Cryopreserved
1438546|IGL00405|9|121849683|G->D|0.89|Possibly damaging|MGI:1930666|Higd1a|HIG1 domain family, member 1A [Source:MGI Symbol;Acc:MGI:1930666]|Heterozygous||C|T|27|38.0|Non-synonymous|Cryopreserved
1438547|IGL00405|7|27519419|I->K|0.02|Benign|MGI:108176|Prx|periaxin [Source:MGI Symbol;Acc:MGI:108176]|Heterozygous|Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age.|T|A|25|34.0|Non-synonymous|Cryopreserved
1438549|IGL00405|7|27409123|G->S||Benign|MGI:3579880, MGI:1890574, MGI:3042571, MGI:4438566|Spnb4|spectrin beta 4 [Source:MGI Symbol;Acc:MGI:1890574]|Heterozygous|Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.|C|T|13|35.0|Non-synonymous|Cryopreserved
1501240|IGL00325|6|120198062|T->P|0.01|Benign|MGI:1352751|Ninj2|ninjurin 2 [Source:MGI Symbol;Acc:MGI:1352751]|Heterozygous||A|C|349|35.0|Non-synonymous|Line Propagating
1501241|IGL00325|11|119274960|T->A||Benign|MGI:95609|Gaa|glucosidase, alpha, acid [Source:MGI Symbol;Acc:MGI:95609]|Heterozygous||A|G|346|35.0|Non-synonymous|Line Propagating
1501242|IGL00325|4|81317631|V->E|1.0|Probably damaging|MGI:1343489|Mpdz|multiple PDZ domain protein [Source:MGI Symbol;Acc:MGI:1343489]|Heterozygous||A|T|323|38.0|Non-synonymous|Line Propagating
1501243|IGL00325|1|82288483|I->V|0.06|Benign|MGI:99454|Irs1|insulin receptor substrate 1 [Source:MGI Symbol;Acc:MGI:99454]|Heterozygous|Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance.|T|C|289|37.0|Non-synonymous|Line Propagating
1501244|IGL00325|6|85830597|V->M||Benign|MGI:1915646|Nat8|N-acetyltransferase 8 (GCN5-related, putative) [Source:MGI Symbol;Acc:MGI:1915646]|Heterozygous||C|T|216|38.0|Non-synonymous|Line Propagating
1501245|IGL00325|5|63805475|M->V||Benign|MGI:1920464|3110047p20rik|RIKEN cDNA 3110047P20 gene [Source:MGI Symbol;Acc:MGI:1920464]|Heterozygous||A|G|164|36.0|Non-synonymous|Line Propagating
1501246|IGL00325|7|128148309|V->A|0.41|Benign|MGI:96609|Itgax|integrin alpha X [Source:MGI Symbol;Acc:MGI:96609]|Heterozygous|Mice homozygous for a targeted allele exhibit increased T cell proliferation, increased susceptibility to bacterial infection, and decreased susceptibility to EAE.|T|C|159|38.0|Non-synonymous|Line Propagating
1501247|IGL00325|1|193320447|C->R|0.99|Probably damaging|MGI:99915|Lamb3|laminin, beta 3 [Source:MGI Symbol;Acc:MGI:99915]|Heterozygous|Homozygotes for a spontaneous intracisternal A particle sequence insertion exhibit blistering of the skin and mucosal surfaces with abnormal hemidesmosomes. Mutants die neonatally, usually without feeding.|T|C|148|35.5|Non-synonymous|Line Propagating
1501248|IGL00325|9|45942236|M->L|0.89|Possibly damaging|MGI:2446134|Sidt2|SID1 transmembrane family, member 2 [Source:MGI Symbol;Acc:MGI:2446134]|Heterozygous||T|A|148|37.0|Non-synonymous|Line Propagating
1501249|IGL00325|17|5337110|R->S|1.0|Probably damaging|MGI:1926129|Arid1b|AT rich interactive domain 1B (SWI-like) [Source:MGI Symbol;Acc:MGI:1926129]|Heterozygous||C|A|144|35.0|Non-synonymous|Line Propagating
1501250|IGL00325|5|109427992|E->V|0.93|Possibly damaging|MGI:3647193|Vmn2r17|vomeronasal 2, receptor 17 [Source:MGI Symbol;Acc:MGI:3647193]|Heterozygous||A|T|144|39.0|Non-synonymous|Line Propagating
1501251|IGL00325|7|128546341|T->K|0.04|Benign|MGI:1352493|Bag3|BCL2-associated athanogene 3 [Source:MGI Symbol;Acc:MGI:1352493]|Heterozygous|Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype.|C|A|131|35.0|Non-synonymous|Line Propagating
1501252|IGL00325|17|34023009|E->A|0.94|Possibly damaging|MGI:1101770|Ring1|ring finger protein 1 [Source:MGI Symbol;Acc:MGI:1101770]|Heterozygous|Both homozygous and heterozygous mutant mice show axial skeleton defects including anterior transformations of vertebrae and rib abnormalities.|T|G|129|35.0|Non-synonymous|Line Propagating
1501253|IGL00325|4|101102868|K->E|1.0|Probably damaging|MGI:2443623|Raver2|ribonucleoprotein, PTB-binding 2 [Source:MGI Symbol;Acc:MGI:2443623]|Heterozygous||A|G|128|37.0|Non-synonymous|Line Propagating
1501254|IGL00325|7|4944481|V->A|0.23|Benign|MGI:3606211|A430110n23rik|RIKEN cDNA A430110N23 gene [Source:MGI Symbol;Acc:MGI:3606211]|Heterozygous||T|C|116|37.0|Non-synonymous|Line Propagating
1501255|IGL00325|11|101295622|M->K|0.02|Benign|MGI:1891828|Becn1|beclin 1, autophagy related [Source:MGI Symbol;Acc:MGI:1891828]|Heterozygous|Haploinsufficiency of this locus results in increased tumorigenesis.|A|T|115|35.0|Non-synonymous|Line Propagating
1501256|IGL00325|15|73587655|V->A|0.01|Benign|MGI:2146236|Slc45a4|solute carrier family 45, member 4 [Source:MGI Symbol;Acc:MGI:2146236]|Heterozygous||A|G|110|35.0|Non-synonymous|Line Propagating
1501257|IGL00325|11|69882691|S->P|0.99|Probably damaging|MGI:2388270|Acap1|ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Source:MGI Symbol;Acc:MGI:2388270]|Heterozygous||A|G|101|37.0|Non-synonymous|Line Propagating
1501258|IGL00325|1|78664545|S->R|1.0|Probably damaging|MGI:2445092|Utp14b|UTP14, U3 small nucleolar ribonucleoprotein, homolog B (yeast) [Source:MGI Symbol;Acc:MGI:2445092]|Heterozygous|Homozygous males are sterile with spermatogonial arrest and elevated intratesticular testosterone levels.|T|A|90|37.0|Non-synonymous|Line Propagating
1501259|IGL00325|5|31307767|I->N|0.84|Possibly damaging|MGI:1096345|Gckr|glucokinase regulatory protein [Source:MGI Symbol;Acc:MGI:1096345]|Heterozygous|Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis.|T|A|78|38.0|Non-synonymous|Line Propagating
1501260|IGL00325|13|95034367|D->G|1.0|Probably damaging|MGI:2443999|Pde8b|phosphodiesterase 8B [Source:MGI Symbol;Acc:MGI:2443999]|Heterozygous||T|C|65|36.0|Non-synonymous|Line Propagating
1501261|IGL00325|5|139414738|C->Y|0.02|Benign|MGI:2442694, MGI:1920462|3110082i17rik,c130050o18rik|RIKEN cDNA C130050O18 gene [Source:MGI Symbol;Acc:MGI:2442694],RIKEN cDNA 3110082I17 gene [Source:MGI Symbol;Acc:MGI:1920462]|Heterozygous||G|A|55|36.0|Non-synonymous|Line Propagating
1501262|IGL00325|1|74634702|K->N|0.54|Possibly damaging|MGI:1920831|Stk36|serine/threonine kinase 36 (fused homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1920831]|Heterozygous|Homozygotes for one knock-out allele become runty and emaciated and die before 3 wks of age. Homozygotes for another knock-out allele show a similar growth arrest and mortality in addition to hydrocephalus, a domed head, ataxia, rhinitis, immature lungs and kidneys, and thymus and spleen atrophy.|A|T|52|37.5|Non-synonymous|Line Propagating
1501264|IGL00325|14|66005949|A->D|1.0|Probably damaging|MGI:1353434|Gulo|gulonolactone (L-) oxidase [Source:MGI Symbol;Acc:MGI:1353434]|Heterozygous|Homozygotes for spontaneous mutations exhibit impaired growth and mobility, decreased spleen and thymus weights, reduced serum calcium, phosphate, alkaline phosphatase, IGF1, and osteocalcin levels, and small, fragile and histologically abnormal bones.|G|T|49|30.5|Non-synonymous|Line Propagating
1501265|IGL00325|7|97299258|P->S|1.0|Probably damaging|MGI:1333854|Gab2|growth factor receptor bound protein 2-associated protein 2 [Source:MGI Symbol;Acc:MGI:1333854]|Heterozygous|Homozygotes for targeted null mutations exhibit impairments in passive cutaneous and systemic anaphylaxis, Fc gamma receptor-mediated phagocytosis, and mast cell development.|C|T|38|35.0|Non-synonymous|Line Propagating
1501266|IGL00325|8|85011497|D->V|1.0|Probably damaging|MGI:2387588|Best2|bestrophin 2 [Source:MGI Symbol;Acc:MGI:2387588]|Heterozygous|Mice homozygous for a null allele exhibit reduced intraoccular pressure.|T|A|37|30.0|Non-synonymous|Line Propagating
1501267|IGL00325|5|137779537|V->E|0.96|Probably damaging|MGI:1922853|2010007h12rik|RIKEN cDNA 2010007H12 gene [Source:MGI Symbol;Acc:MGI:1922853]|Heterozygous||T|A|36|35.0|Non-synonymous|Line Propagating
1501268|IGL00325|8|46170185|S->L|0.01|Benign|MGI:1914006|4933411k20rik|RIKEN cDNA 4933411K20 gene [Source:MGI Symbol;Acc:MGI:1914006]|Heterozygous||C|T|34|38.5|Non-synonymous|Line Propagating
1501269|IGL00325|18|36021218|M->V||Benign|MGI:1098246|Nrg2|neuregulin 2 [Source:MGI Symbol;Acc:MGI:1098246]|Heterozygous|About one third of mice homozygous for a knock-out allele die prior to weaning in the absence of cardiac defects or other morphological abnormalities. Homozygotes display an early but transient postnatal growth deficit and reduced reproductive capacity.|T|C|26|39.0|Non-synonymous|Line Propagating
1501270|IGL00325|7|126498288|D->G|0.27|Benign|MGI:2446242|Atxn2l|ataxin 2-like [Source:MGI Symbol;Acc:MGI:2446242]|Heterozygous||T|C|23|39.0|Non-synonymous|Line Propagating
1501272|IGL00325|7|127944927|Disrupted splicing||N/A|MGI:1924863|Prss36|protease, serine, 36 [Source:MGI Symbol;Acc:MGI:1924863]|Heterozygous||T|A|136|35.0|Splice|Line Propagating
1502691|IGL00327|7|50120673|H->R|0.99|Probably damaging|MGI:2443902|Nell1|NEL-like 1 (chicken) [Source:MGI Symbol;Acc:MGI:2443902]|Heterozygous|Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine.|A|G|525|35.0|Non-synonymous|Line Propagating
1502692|IGL00327|17|56619265|L->P|1.0|Probably damaging|MGI:1921392|Lonp1|lon peptidase 1, mitochondrial [Source:MGI Symbol;Acc:MGI:1921392]|Heterozygous||A|G|432|38.0|Non-synonymous|Line Propagating
1502693|IGL00327|7|101300160|L->S|0.94|Possibly damaging|MGI:1920933|Atg16l2|autophagy related 16 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1920933]|Heterozygous||A|G|391|37.0|Non-synonymous|Line Propagating
1502694|IGL00327|6|83056409|E->G|1.0|Probably damaging|MGI:107789|Aup1|ancient ubiquitous protein 1 [Source:MGI Symbol;Acc:MGI:107789]|Heterozygous||A|G|318|35.0|Non-synonymous|Line Propagating
1502695|IGL00327|2|84673299|N->S||Benign|MGI:1914208|Tmx2|thioredoxin-related transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1914208]|Heterozygous||T|C|259|38.0|Non-synonymous|Line Propagating
1502696|IGL00327|1|158247100|Y->H|0.54|Possibly damaging|MGI:2443333|Fam5b|family with sequence similarity 5, member B [Source:MGI Symbol;Acc:MGI:2443333]|Heterozygous||A|G|228|37.0|Non-synonymous|Line Propagating
1502697|IGL00327|9|110388106|T->K|0.07|Benign|MGI:2144837|Ptpn23|protein tyrosine phosphatase, non-receptor type 23 [Source:MGI Symbol;Acc:MGI:2144837]|Heterozygous|Embryos homozygous for a gene trap allele are significantly growth retarded and fail to reach the E8.5 stage.|G|T|220|36.0|Non-synonymous|Line Propagating
1502698|IGL00327|X|20138919|Y->C|0.97|Probably damaging|MGI:2444530|Slc9a7|solute carrier family 9 (sodium/hydrogen exchanger), member 7 [Source:MGI Symbol;Acc:MGI:2444530]|Heterozygous||T|C|174|36.0|Non-synonymous|Line Propagating
1502699|IGL00327|15|101679832|Q->P|0.02|Benign|MGI:1333768|Krt6b|keratin 6B [Source:MGI Symbol;Acc:MGI:1333768]|Heterozygous||T|G|148|37.0|Non-synonymous|Line Propagating
1502700|IGL00327|16|3955166|N->S|1.0|Probably damaging|MGI:2444070|Nlrc3|NLR family, CARD domain containing 3 [Source:MGI Symbol;Acc:MGI:2444070]|Heterozygous||T|C|114|37.0|Non-synonymous|Line Propagating
1502701|IGL00327|11|99492784|E->G|1.0|Probably damaging|MGI:2148866|Krt23|keratin 23 [Source:MGI Symbol;Acc:MGI:2148866]|Heterozygous||T|C|108|35.5|Non-synonymous|Line Propagating
1502702|IGL00327|13|34305245|D->A|0.95|Possibly damaging|MGI:1920352|Slc22a23|solute carrier family 22, member 23 [Source:MGI Symbol;Acc:MGI:1920352]|Heterozygous||T|G|94|38.0|Non-synonymous|Line Propagating
1502703|IGL00327|2|3433784|L->Stop||N/A|MGI:2441769|Dclre1c|DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2441769]|Heterozygous|Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial.|T|A|86|39.0|Non-synonymous|Line Propagating
1502704|IGL00327|2|53150688|T->A||Benign|MGI:1860512|Prpf40a|PRP40 pre-mRNA processing factor 40 homolog A (yeast) [Source:MGI Symbol;Acc:MGI:1860512]|Heterozygous||T|C|84|38.0|Non-synonymous|Line Propagating
1502705|IGL00327|2|158274844|V->A||N/A|MGI:3045315|Bpi|bactericidal permeablility increasing protein [Source:MGI Symbol;Acc:MGI:3045315]|Heterozygous||T|C|80|36.0|Non-synonymous|Line Propagating
1502706|IGL00327|13|81665078|L->F||Benign|MGI:1915906|Lysmd3|LysM, putative peptidoglycan-binding, domain containing 3 [Source:MGI Symbol;Acc:MGI:1915906]|Heterozygous||C|T|74|36.0|Non-synonymous|Line Propagating
1502707|IGL00327|2|72412170|D->G|1.0|Probably damaging|MGI:2443258|B230120h23rik|RIKEN cDNA B230120H23 gene [Source:MGI Symbol;Acc:MGI:2443258]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
1502708|IGL00327|1|79781004|L->F|1.0|Probably damaging|MGI:1916413|Mrpl44|mitochondrial ribosomal protein L44 [Source:MGI Symbol;Acc:MGI:1916413]|Heterozygous||C|T|43|37.0|Non-synonymous|Line Propagating
1502709|IGL00327|14|37071963|M->K|0.01|Benign|MGI:2444885|Lrit2|leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 [Source:MGI Symbol;Acc:MGI:2444885]|Heterozygous||T|A|42|38.5|Non-synonymous|Line Propagating
1502710|IGL00327|2|23192500|V->A|0.02|Benign|MGI:1351651|Yme1l1|YME1-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1351651]|Heterozygous||T|C|36|39.0|Non-synonymous|Line Propagating
1502711|IGL00327|6|141909125|I->N|0.96|Probably damaging|MGI:1351891|Slco1a1|solute carrier organic anion transporter family, member 1a1 [Source:MGI Symbol;Acc:MGI:1351891]|Heterozygous||A|T|35|37.0|Non-synonymous|Line Propagating
1502712|IGL00327|2|13427056|D->G|0.04|Benign|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|T|C|34|36.5|Non-synonymous|Line Propagating
1502713|IGL00327|7|34013346|C->R|0.92|Possibly damaging|MGI:87863|Abpb|androgen binding protein beta [Source:MGI Symbol;Acc:MGI:87863]|Heterozygous||A|G|33|39.0|Non-synonymous|Line Propagating
1502714|IGL00327|7|29354133|H->N|0.07|Benign|MGI:1921456|Sipa1l3|signal-induced proliferation-associated 1 like 3 [Source:MGI Symbol;Acc:MGI:1921456]|Heterozygous||G|T|28|37.0|Non-synonymous|Line Propagating
1502715|IGL00327|14|31535588|Disrupted splicing||N/A|MGI:1338761|Colq|collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Source:MGI Symbol;Acc:MGI:1338761]|Heterozygous|Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation.|C|T|112|38.5|Splice|Line Propagating
1509402|IGL00336|17|47791664|N->K|0.03|Benign|MGI:103270|Tcfeb|transcription factor EB [Source:MGI Symbol;Acc:MGI:103270]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.|C|A|441|37.0|Non-synonymous|Line Propagating
1509403|IGL00336|4|136657484|K->T|0.99|Probably damaging|MGI:99611|Ephb2|Eph receptor B2 [Source:MGI Symbol;Acc:MGI:99611]|Heterozygous|Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity.|T|G|421|35.0|Non-synonymous|Line Propagating
1509404|IGL00336|13|37929646|S->Stop||N/A|MGI:2443664|Rreb1|ras responsive element binding protein 1 [Source:MGI Symbol;Acc:MGI:2443664]|Heterozygous||C|A|351|35.0|Non-synonymous|Line Propagating
1509405|IGL00336|4|139428566|D->G||Unknown|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||A|G|306|35.0|Non-synonymous|Line Propagating
1509407|IGL00336|2|111944994|M->R|0.07|Benign|MGI:3031141|Olfr1307|olfactory receptor 1307 [Source:MGI Symbol;Acc:MGI:3031141]|Heterozygous||A|C|281|37.0|Non-synonymous|Line Propagating
1509408|IGL00336|6|148782786|M->K|0.9|Possibly damaging|MGI:2444611|Ipo8|importin 8 [Source:MGI Symbol;Acc:MGI:2444611]|Heterozygous||A|T|274|35.0|Non-synonymous|Line Propagating
1509409|IGL00336|6|124778926|W->R|0.92|Possibly damaging|MGI:1315192|Lrrc23|leucine rich repeat containing 23 [Source:MGI Symbol;Acc:MGI:1315192]|Heterozygous||A|G|251|36.0|Non-synonymous|Line Propagating
1509410|IGL00336|14|68622120|H->L|0.41|Benign|MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||T|A|199|38.0|Non-synonymous|Line Propagating
1509411|IGL00336|2|121256579|Q->K|0.07|Benign|MGI:1351320|Trp53bp1|transformation related protein 53 binding protein 1 [Source:MGI Symbol;Acc:MGI:1351320]|Heterozygous|Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.|G|T|182|36.0|Non-synonymous|Line Propagating
1509412|IGL00336|1|136084273|Y->Stop||N/A|MGI:88294|Cacna1s|calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:MGI Symbol;Acc:MGI:88294]|Heterozygous|Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.|C|A|178|36.0|Non-synonymous|Line Propagating
1509413|IGL00336|19|7096912|N->I|1.0|Probably damaging|MGI:2147583, MGI:3026647|Flrt1,macrod1|MACRO domain containing 1 [Source:MGI Symbol;Acc:MGI:2147583],fibronectin leucine rich transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:3026647]|Heterozygous||T|A|178|37.0|Non-synonymous|Line Propagating
1509414|IGL00336|9|119486224|P->L||N/A|MGI:98251|Scn5a|sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]|Heterozygous|Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.|G|A|154|37.0|Non-synonymous|Line Propagating
1509415|IGL00336|14|84447544|I->F|1.0|Probably damaging|MGI:2684924|Pcdh17|protocadherin 17 [Source:MGI Symbol;Acc:MGI:2684924]|Heterozygous||A|T|149|36.0|Non-synonymous|Line Propagating
1509416|IGL00336|6|135116490|Q->Stop||N/A|MGI:1935037|Gprc5d|G protein-coupled receptor, family C, group 5, member D [Source:MGI Symbol;Acc:MGI:1935037]|Heterozygous||G|A|144|36.0|Non-synonymous|Line Propagating
1509417|IGL00336|18|60707956|G->D|1.0|Probably damaging|MGI:104719|Ndst1|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 [Source:MGI Symbol;Acc:MGI:104719]|Heterozygous|Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure.|C|T|141|38.0|Non-synonymous|Line Propagating
1509418|IGL00336|12|75308906|G->V|1.0|Probably damaging|MGI:1931551|Rhoj|ras homolog gene family, member J [Source:MGI Symbol;Acc:MGI:1931551]|Heterozygous||G|T|135|35.0|Non-synonymous|Line Propagating
1509419|IGL00336|13|63015423|D->V|0.84|Possibly damaging|MGI:1919311|2010111i01rik|RIKEN cDNA 2010111I01 gene [Source:MGI Symbol;Acc:MGI:1919311]|Heterozygous|Mice homozygous for one gene trapped allele are phenotypically normal.|A|T|134|39.0|Non-synonymous|Line Propagating
1509420|IGL00336|19|12674560|Y->Stop||N/A|MGI:3031276|Olfr1442|olfactory receptor 1442 [Source:MGI Symbol;Acc:MGI:3031276]|Heterozygous||T|A|124|39.0|Non-synonymous|Line Propagating
1509421|IGL00336|1|172957478|V->M|0.01|Benign|MGI:106648|Olfr16|olfactory receptor 16 [Source:MGI Symbol;Acc:MGI:106648]|Heterozygous||G|A|120|39.0|Non-synonymous|Line Propagating
1509422|IGL00336|9|65229963|E->V|1.0|Probably damaging|MGI:2446133|Parp16|poly (ADP-ribose) polymerase family, member 16 [Source:MGI Symbol;Acc:MGI:2446133]|Heterozygous||A|T|111|37.0|Non-synonymous|Line Propagating
1509423|IGL00336|9|89603143|D->G|1.0|Probably damaging|MGI:2667167|Af529169|cDNA sequence AF529169 [Source:MGI Symbol;Acc:MGI:2667167]|Heterozygous||T|C|105|38.0|Non-synonymous|Line Propagating
1509424|IGL00336|8|109630237|E->K|0.35|Benign|MGI:2664670|Pkd1l3|polycystic kidney disease 1 like 3 [Source:MGI Symbol;Acc:MGI:2664670]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.|G|A|94|34.5|Non-synonymous|Line Propagating
1509425|IGL00336|1|46142149|M->I|0.97|Probably damaging|MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||G|A|86|38.5|Non-synonymous|Line Propagating
1509426|IGL00336|15|97884854|D->V|1.0|Probably damaging|MGI:103076|Vdr|vitamin D receptor [Source:MGI Symbol;Acc:MGI:103076]|Heterozygous|Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development.|T|A|84|31.5|Non-synonymous|Line Propagating
1509427|IGL00336|4|135529545|S->T|1.0|Probably damaging|MGI:1926056|4930555i21rik|RIKEN cDNA 4930555I21 gene [Source:MGI Symbol;Acc:MGI:1926056]|Heterozygous||T|A|78|36.0|Non-synonymous|Line Propagating
1509428|IGL00336|6|87588611|I->N|1.0|Probably damaging|MGI:1929676|Prokr1|prokineticin receptor 1 [Source:MGI Symbol;Acc:MGI:1929676]|Heterozygous|Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart.|A|T|78|35.0|Non-synonymous|Line Propagating
1509429|IGL00336|2|92379235|R->G|0.17|Benign|MGI:1338829|Pex16|peroxisomal biogenesis factor 16 [Source:MGI Symbol;Acc:MGI:1338829]|Heterozygous||A|G|70|39.0|Non-synonymous|Line Propagating
1509430|IGL00336|5|138297659|E->K|0.99|Probably damaging|MGI:1355311|Stag3|stromal antigen 3 [Source:MGI Symbol;Acc:MGI:1355311]|Heterozygous||G|A|63|37.0|Non-synonymous|Line Propagating
1509431|IGL00336|1|58059044|L->Q|1.0|Probably damaging|MGI:88035|Aox1|aldehyde oxidase 1 [Source:MGI Symbol;Acc:MGI:88035]|Heterozygous||T|A|49|40.0|Non-synonymous|Line Propagating
1509432|IGL00336|12|31641627|H->P|0.02|Benign|MGI:1919166|Dus4l|dihydrouridine synthase 4-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919166]|Heterozygous||T|G|48|35.0|Non-synonymous|Line Propagating
1509433|IGL00336|19|11529490|N->K|0.51|Possibly damaging|MGI:1917024|Ms4a6b|membrane-spanning 4-domains, subfamily A, member 6B [Source:MGI Symbol;Acc:MGI:1917024]|Heterozygous||T|A|47|37.0|Non-synonymous|Line Propagating
1509434|IGL00336|2|91035860|T->A|0.98|Probably damaging|MGI:99422|Rapsn|receptor-associated protein of the synapse [Source:MGI Symbol;Acc:MGI:99422]|Heterozygous|Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth.|A|G|46|38.0|Non-synonymous|Line Propagating
1509435|IGL00336|17|67813948|H->L|0.1|Benign|MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|A|T|44|36.0|Non-synonymous|Line Propagating
1509436|IGL00336|17|84398239|L->I|1.0|Probably damaging|MGI:3039623|Thada|thyroid adenoma associated [Source:MGI Symbol;Acc:MGI:3039623]|Heterozygous||G|T|42|37.0|Non-synonymous|Line Propagating
1509437|IGL00336|19|38651906|V->A|0.98|Probably damaging|MGI:1921305|Plce1|phospholipase C, epsilon 1 [Source:MGI Symbol;Acc:MGI:1921305]|Heterozygous|Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.|T|C|42|36.0|Non-synonymous|Line Propagating
1509438|IGL00336|6|34846836|D->V|1.0|Probably damaging|MGI:1923473|Agbl3|ATP/GTP binding protein-like 3 [Source:MGI Symbol;Acc:MGI:1923473]|Heterozygous||A|T|36|37.0|Non-synonymous|Line Propagating
1509439|IGL00336|3|83031674|G->D|1.0|Probably damaging|MGI:1316726|Fga|fibrinogen alpha chain [Source:MGI Symbol;Acc:MGI:1316726]|Heterozygous|Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging.|G|A|35|39.0|Non-synonymous|Line Propagating
1509440|IGL00336|14|54363345|G->Stop||N/A|MGI:1916339|Oxa1l|oxidase assembly 1-like [Source:MGI Symbol;Acc:MGI:1916339]|Heterozygous||G|T|34|37.0|Non-synonymous|Line Propagating
1509441|IGL00336|2|86890245|C->Y||Benign|MGI:3030931|Olfr1097|olfactory receptor 1097 [Source:MGI Symbol;Acc:MGI:3030931]|Heterozygous||C|T|34|38.5|Non-synonymous|Line Propagating
1509442|IGL00336|10|58451984|K->E|0.35|Benign|MGI:894323|Ranbp2|RAN binding protein 2 [Source:MGI Symbol;Acc:MGI:894323]|Heterozygous|Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.|A|G|33|39.0|Non-synonymous|Line Propagating
1509444|IGL00336|15|98565109|T->A|1.0|Probably damaging|MGI:1328363|Ccnt1|cyclin T1 [Source:MGI Symbol;Acc:MGI:1328363]|Heterozygous||T|C|33|37.0|Non-synonymous|Line Propagating
1509445|IGL00336|11|102149066|S->C|0.99|Probably damaging|MGI:2387600|Nags|N-acetylglutamate synthase [Source:MGI Symbol;Acc:MGI:2387600]|Heterozygous||A|T|26|35.0|Non-synonymous|Line Propagating
1509446|IGL00336|13|114154752|I->V|0.36|Benign|MGI:2442308|Arl15|ADP-ribosylation factor-like 15 [Source:MGI Symbol;Acc:MGI:2442308]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
1509447|IGL00336|2|67512598|S->P|0.7|Possibly damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||T|C|21|37.0|Non-synonymous|Line Propagating
1509448|IGL00336|3|35916306|E->G|0.81|Possibly damaging|MGI:2150386|Dcun1d1|DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2150386]|Heterozygous||T|C|19|38.0|Non-synonymous|Line Propagating
1509449|IGL00336|12|103451217|K->R||Unknown|MGI:1916390|Ifi27l2b|interferon, alpha-inducible protein 27 like 2B [Source:MGI Symbol;Acc:MGI:1916390]|Heterozygous||T|C|16|35.5|Non-synonymous|Line Propagating
1509450|IGL00336|6|118464475|S->P|1.0|Probably damaging|MGI:99210|Zfp9|zinc finger protein 9 [Source:MGI Symbol;Acc:MGI:99210]|Heterozygous||A|G|11|38.0|Non-synonymous|Line Propagating
1509451|IGL00336|9|67945942|V->A|0.25|Benign|MGI:2444207|Vps13c|vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]|Heterozygous||T|C|10|36.5|Non-synonymous|Line Propagating
1509452|IGL00336|8|31195291|Disrupted splicing||N/A|MGI:2384748|Fut10|fucosyltransferase 10 [Source:MGI Symbol;Acc:MGI:2384748]|Heterozygous||T|A|152|38.0|Splice|Line Propagating
1509453|IGL00336|13|13374415|Disrupted splicing||N/A|MGI:1891463|Gpr137b|G protein-coupled receptor 137B [Source:MGI Symbol;Acc:MGI:1891463]|Heterozygous||T|C|95|39.0|Splice|Line Propagating
1509454|IGL00336|3|130181784|Disrupted splicing||N/A|MGI:1924268|Col25a1|collagen, type XXV, alpha 1 [Source:MGI Symbol;Acc:MGI:1924268]|Heterozygous||T|A|58|37.0|Splice|Line Propagating
1509455|IGL00336|18|47289975|Disrupted splicing||N/A|MGI:1203727|Sema6a|sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A [Source:MGI Symbol;Acc:MGI:1203727]|Heterozygous|Mice homozygous for disruptions in this gene express an essentially normal phenotype although some axon projections are misdirected.|C|A|53|37.0|Splice|Line Propagating
1509456|IGL00336|17|80295504|Disrupted splicing||N/A|MGI:2674071|Morn2|MORN repeat containing 2 [Source:MGI Symbol;Acc:MGI:2674071]|Heterozygous||C|A|47|34.0|Splice|Line Propagating
1509457|IGL00336|8|11240077|Disrupted splicing||N/A|MGI:88454|Col4a1|collagen, type IV, alpha 1 [Source:MGI Symbol;Acc:MGI:88454]|Heterozygous|Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.|T|A|35|39.0|Splice|Line Propagating
1509458|IGL00336|16|37065247|Disrupted splicing||N/A|MGI:2155399|Polq|polymerase (DNA directed), theta [Source:MGI Symbol;Acc:MGI:2155399]|Heterozygous|Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage.|A|G|22|38.5|Splice|Line Propagating
1511696|IGL00339|18|36675686|I->N||Benign|MGI:108404|Apbb3|amyloid beta (A4) precursor protein-binding, family B, member 3 [Source:MGI Symbol;Acc:MGI:108404]|Heterozygous||A|T|402|36.0|Non-synonymous|Line Propagating
1511697|IGL00339|2|37201597|S->P|1.0|Probably damaging|MGI:3030199|Olfr365|olfactory receptor 365 [Source:MGI Symbol;Acc:MGI:3030199]|Heterozygous||T|C|313|37.0|Non-synonymous|Line Propagating
1511698|IGL00339|1|85641822|C->Stop||N/A|MGI:3702467|Sp140|Sp140 nuclear body protein [Source:MGI Symbol;Acc:MGI:3702467]|Heterozygous||T|A|273|38.0|Non-synonymous|Line Propagating
1511699|IGL00339|11|106019019|P->S|1.0|Probably damaging|MGI:2684139|Kcnh6|potassium voltage-gated channel, subfamily H (eag-related), member 6 [Source:MGI Symbol;Acc:MGI:2684139]|Heterozygous||C|T|236|35.0|Non-synonymous|Line Propagating
1511700|IGL00339|4|137539195|T->M|1.0|Probably damaging|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|C|T|221|35.0|Non-synonymous|Line Propagating
1511701|IGL00339|7|30713204|C->R|0.45|Possibly damaging|MGI:88113|Atp4a|ATPase, H+/K+ exchanging, gastric, alpha polypeptide [Source:MGI Symbol;Acc:MGI:88113]|Heterozygous|Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells.|T|C|187|35.0|Non-synonymous|Line Propagating
1511702|IGL00339|7|144482357|I->T||Benign|MGI:1924750|Ppfia1|protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 [Source:MGI Symbol;Acc:MGI:1924750]|Heterozygous||A|G|161|36.0|Non-synonymous|Line Propagating
1511703|IGL00339|11|69904587|R->W|1.0|Probably damaging|MGI:1921092|Neurl4|neuralized homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921092]|Heterozygous||C|T|158|36.0|Non-synonymous|Line Propagating
1511704|IGL00339|6|34043429|P->L|0.99|Probably damaging|MGI:1921604|Lrguk|leucine-rich repeats and guanylate kinase domain containing [Source:MGI Symbol;Acc:MGI:1921604]|Heterozygous||C|T|154|39.0|Non-synonymous|Line Propagating
1511705|IGL00339|6|43217848|L->V||Benign|MGI:3030268|Olfr434|olfactory receptor 434 [Source:MGI Symbol;Acc:MGI:3030268]|Heterozygous||T|G|120|38.0|Non-synonymous|Line Propagating
1511706|IGL00339|6|147101733|Y->C|1.0|Probably damaging|MGI:2444786|Klhdc5|kelch domain containing 5 [Source:MGI Symbol;Acc:MGI:2444786]|Heterozygous||A|G|112|38.0|Non-synonymous|Line Propagating
1511707|IGL00339|9|30429084|V->G||Benign|MGI:1921581|Snx19|sorting nexin 19 [Source:MGI Symbol;Acc:MGI:1921581]|Heterozygous||T|G|107|37.0|Non-synonymous|Line Propagating
1511708|IGL00339|2|129460529|D->G|0.74|Possibly damaging|MGI:3045317|F830045p16rik|RIKEN cDNA F830045P16 gene [Source:MGI Symbol;Acc:MGI:3045317]|Heterozygous||T|C|82|37.0|Non-synonymous|Line Propagating
1511709|IGL00339|10|83191633|Y->C|0.64|Possibly damaging|MGI:1927166|Chst11|carbohydrate sulfotransferase 11 [Source:MGI Symbol;Acc:MGI:1927166]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures.|A|G|75|35.0|Non-synonymous|Line Propagating
1511710|IGL00339|18|22823412|S->G||Benign|MGI:2441684|Nol4|nucleolar protein 4 [Source:MGI Symbol;Acc:MGI:2441684]|Heterozygous||T|C|72|38.5|Non-synonymous|Line Propagating
1511711|IGL00339|11|108923990|T->A||Benign|MGI:1270862|Axin2|axin2 [Source:MGI Symbol;Acc:MGI:1270862]|Heterozygous|Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of oseoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation.|A|G|71|38.0|Non-synonymous|Line Propagating
1511712|IGL00339|17|45643767|I->N|1.0|Probably damaging|MGI:1352490|Capn11|calpain 11 [Source:MGI Symbol;Acc:MGI:1352490]|Heterozygous||A|T|69|36.0|Non-synonymous|Line Propagating
1511713|IGL00339|5|120886046|K->Stop||N/A|MGI:97429|Oas1g|2'-5' oligoadenylate synthetase 1G [Source:MGI Symbol;Acc:MGI:97429]|Heterozygous||T|A|65|38.0|Non-synonymous|Line Propagating
1511714|IGL00339|11|109434021|I->F|0.89|Possibly damaging|MGI:104837|Amz2|archaelysin family metallopeptidase 2 [Source:MGI Symbol;Acc:MGI:104837]|Heterozygous||A|T|63|38.0|Non-synonymous|Line Propagating
1511715|IGL00339|19|59235070|A->S|0.25|Benign|MGI:2685627|Kcnk18|potassium channel, subfamily K, member 18 [Source:MGI Symbol;Acc:MGI:2685627]|Heterozygous||G|T|61|35.0|Non-synonymous|Line Propagating
1511716|IGL00339|8|113649502|L->R|0.98|Probably damaging|MGI:1922247|Syce1l|synaptonemal complex central element protein 1 like [Source:MGI Symbol;Acc:MGI:1922247]|Heterozygous||T|G|61|38.0|Non-synonymous|Line Propagating
1511717|IGL00339|7|104154105|T->P|1.0|Probably damaging|MGI:2443346|E030002o03rik|RIKEN cDNA E030002O03 gene [Source:MGI Symbol;Acc:MGI:2443346]|Heterozygous||T|G|52|34.0|Non-synonymous|Line Propagating
1511718|IGL00339|15|81613412|M->L||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|A|T|42|39.0|Non-synonymous|Line Propagating
1511719|IGL00339|9|58067525|S->F|0.91|Possibly damaging|MGI:1922464|Ccdc33|coiled-coil domain containing 33 [Source:MGI Symbol;Acc:MGI:1922464]|Heterozygous||G|A|42|38.0|Non-synonymous|Line Propagating
1511720|IGL00339|13|54995815|V->D|0.92|Possibly damaging|MGI:894682|Unc5a|unc-5 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:894682]|Heterozygous|Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord.|T|A|41|36.0|Non-synonymous|Line Propagating
1511721|IGL00339|11|121299734|T->M|1.0|Probably damaging|MGI:1916087|Foxk2|forkhead box K2 [Source:MGI Symbol;Acc:MGI:1916087]|Heterozygous||C|T|39|40.0|Non-synonymous|Line Propagating
1511722|IGL00339|3|79515155|H->P||Benign|MGI:2683054|Fnip2|folliculin interacting protein 2 [Source:MGI Symbol;Acc:MGI:2683054]|Heterozygous||T|G|36|35.5|Non-synonymous|Line Propagating
1511723|IGL00339|19|5450302|I->K|1.0|Probably damaging|MGI:107179|Fosl1|fos-like antigen 1 [Source:MGI Symbol;Acc:MGI:107179]|Heterozygous|Homozygous inactivation of this gene leads to in utero lethality. Embryos homozygous for a reporter/null allele are severely growth retarded and display defects in the extra-embryonic compartment, including a highly abnormal yolk sac and a narrow, largely avascular placental labyrinth layer.|T|A|32|35.5|Non-synonymous|Line Propagating
1511724|IGL00339|7|27394171|E->G||Benign|MGI:1890574, MGI:3042571, MGI:4438566, MGI:3579880|Spnb4|spectrin beta 4 [Source:MGI Symbol;Acc:MGI:1890574]|Heterozygous|Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.|T|C|29|34.5|Non-synonymous|Line Propagating
1511725|IGL00339|12|71167119|M->V||Benign|MGI:1924217|2700049a03rik|RIKEN cDNA 2700049A03 gene [Source:MGI Symbol;Acc:MGI:1924217]|Heterozygous||A|G|26|39.0|Non-synonymous|Line Propagating
1511726|IGL00339|9|43224016|D->G|1.0|Probably damaging|MGI:94852|Oaf|OAF homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:94852]|Heterozygous||T|C|24|36.0|Non-synonymous|Line Propagating
1511727|IGL00339|2|130038413|V->M|1.0|Probably damaging|MGI:98732|Tgm3|transglutaminase 3, E polypeptide [Source:MGI Symbol;Acc:MGI:98732]|Heterozygous|Mice homozygous for an ENU mutagenesis exhibit rough-looking, curly hair.|G|A|21|37.0|Non-synonymous|Line Propagating
1511728|IGL00339|2|4594714|N->S||Benign|MGI:1919850|Frmd4a|FERM domain containing 4A [Source:MGI Symbol;Acc:MGI:1919850]|Heterozygous||A|G|20|38.0|Non-synonymous|Line Propagating
1511729|IGL00339|6|82937174|T->A||Benign|MGI:1340055|Sema4f|sema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain [Source:MGI Symbol;Acc:MGI:1340055]|Heterozygous||T|C|20|35.0|Non-synonymous|Line Propagating
1511730|IGL00339|9|7368304|R->S|0.06|Benign|MGI:1933847|Mmp1b|matrix metallopeptidase 1b (interstitial collagenase) [Source:MGI Symbol;Acc:MGI:1933847]|Heterozygous||T|A|20|37.0|Non-synonymous|Line Propagating
1511731|IGL00339|11|115803599|L->P||Benign|MGI:2157062|Caskin2|CASK-interacting protein 2 [Source:MGI Symbol;Acc:MGI:2157062]|Heterozygous||A|G|18|35.0|Non-synonymous|Line Propagating
1511732|IGL00339|12|51888901|I->N|0.95|Possibly damaging|MGI:2444133|Heatr5a|HEAT repeat containing 5A [Source:MGI Symbol;Acc:MGI:2444133]|Heterozygous||A|T|18|39.0|Non-synonymous|Line Propagating
1511733|IGL00339|15|39459615|T->K|0.05|Benign|MGI:2152972|Rims2|regulating synaptic membrane exocytosis 2 [Source:MGI Symbol;Acc:MGI:2152972]|Heterozygous|Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death.|C|A|10|40.0|Non-synonymous|Line Propagating
1511734|IGL00339|7|27658325|A->V|0.03|Benign|MGI:1346879|Map3k10|mitogen-activated protein kinase kinase kinase 10 [Source:MGI Symbol;Acc:MGI:1346879]|Heterozygous|Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.|G|A|10|38.5|Non-synonymous|Line Propagating
1511735|IGL00339|17|34804134|Disrupted splicing||N/A|MGI:88591|Cyp21a1|cytochrome P450, family 21, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88591]|Heterozygous|An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene.|C|T|110|38.0|Splice|Line Propagating
1511736|IGL00339|13|74062268|Disrupted splicing||N/A|MGI:1921720|Cep72|centrosomal protein 72 [Source:MGI Symbol;Acc:MGI:1921720]|Heterozygous||C|T|34|35.0|Splice|Line Propagating
1514800|IGL00640|9|95865052|V->A|1.0|Probably damaging|MGI:108028|Atr|ataxia telangiectasia and Rad3 related [Source:MGI Symbol;Acc:MGI:108028]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence.|T|C|180|40.0|Non-synonymous|Line Propagating
1514801|IGL00640|11|41971772|I->L|0.68|Possibly damaging|MGI:95623|Gabrg2|gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 [Source:MGI Symbol;Acc:MGI:95623]|Heterozygous|Homozygotes for a targeted null mutation exhibit retarded postnatal growth, impaired sensorimotor function, and greatly reduced lifespan. Heterozygotes show enhanced anxiety-related behaviors.|T|G|64|39.0|Non-synonymous|Line Propagating
1514802|IGL00640|15|35417577|I->L||Benign|MGI:1916380|Vps13b|vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]|Heterozygous||A|T|64|39.0|Non-synonymous|Line Propagating
1514803|IGL00640|12|81729698|T->I|0.01|Benign|MGI:2449952|Map3k9|mitogen-activated protein kinase kinase kinase 9 [Source:MGI Symbol;Acc:MGI:2449952]|Heterozygous|Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan.|G|A|57|39.0|Non-synonymous|Line Propagating
1514806|IGL00640|8|90986132|E->G||Unknown|MGI:1924001|Chd9|chromodomain helicase DNA binding protein 9 [Source:MGI Symbol;Acc:MGI:1924001]|Heterozygous||A|G|28|41.0|Non-synonymous|Line Propagating
1514807|IGL00640|1|171601879|V->D|0.16|Benign|MGI:96885|Ly9|lymphocyte antigen 9 [Source:MGI Symbol;Acc:MGI:96885]|Heterozygous|This locus controls an antigen on thymocytes, lymphocytes and bone marrow cells. The a allele determines Ly9.1 antigen in A/J, 129/Re, BALB/c and C3H/He; the b allele determines antigen Ly9.2 in the C57 family of strains, HTI/Go, MA/My, F/St and C58/Lw. Null mutants are viable, healthy and fertile.|A|T|21|38.0|Non-synonymous|Line Propagating
1514808|IGL00640|12|51389315|D->E|0.04|Benign|MGI:1924233|Scfd1|Sec1 family domain containing 1 [Source:MGI Symbol;Acc:MGI:1924233]|Heterozygous||T|A|20|39.0|Non-synonymous|Line Propagating
1514809|IGL00640|6|60977513|L->P||Benign|MGI:1918195|Mmrn1|multimerin 1 [Source:MGI Symbol;Acc:MGI:1918195]|Heterozygous||T|C|20|40.0|Non-synonymous|Line Propagating
1514811|IGL00640|3|102158229|Disrupted splicing||N/A|MGI:2159344|Vangl1|vang-like 1 (van gogh, Drosophila) [Source:MGI Symbol;Acc:MGI:2159344]|Heterozygous|Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities.|T|A|92|39.0|Splice|Line Propagating
1517281|IGL00645|2|80654832|F->L|1.0|Probably damaging|MGI:1916732|Nup35|nucleoporin 35 [Source:MGI Symbol;Acc:MGI:1916732]|Heterozygous||T|A|114|40.0|Non-synonymous|Line Propagating
1517284|IGL00645|2|149409979|C->S|1.0|Probably damaging|MGI:1930004|Cst10|cystatin 10 (chondrocytes) [Source:MGI Symbol;Acc:MGI:1930004]|Heterozygous|Mice homozygous for a knock-out allele display reduced chondrocyte calcification during endochondral ossification both under physiological and pathological conditions.|T|A|26|40.0|Non-synonymous|Line Propagating
1517285|IGL00645|1|55061309|T->A||Benign|MGI:1915126|Coq10b|coenzyme Q10 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915126]|Heterozygous||A|G|25|40.0|Non-synonymous|Line Propagating
1517286|IGL00645|12|104217340|F->L|0.91|Possibly damaging|MGI:2182838|Serpina3f|serine (or cysteine) peptidase inhibitor, clade A, member 3F [Source:MGI Symbol;Acc:MGI:2182838]|Heterozygous||T|C|22|39.5|Non-synonymous|Line Propagating
1517287|IGL00645|3|101283223|N->D|0.18|Benign|MGI:88320|Cd2|CD2 antigen [Source:MGI Symbol;Acc:MGI:88320]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|C|22|40.0|Non-synonymous|Line Propagating
1517288|IGL00645|3|107195465|E->K|0.99|Probably damaging|MGI:3037820|Kcna10|potassium voltage-gated channel, shaker-related subfamily, member 10 [Source:MGI Symbol;Acc:MGI:3037820]|Heterozygous||G|A|20|38.5|Non-synonymous|Line Propagating
1517290|IGL00645|11|98805421|C->S|0.98|Probably damaging|MGI:1921276|Msl1|male-specific lethal 1 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1921276]|Heterozygous||T|A|19|37.0|Non-synonymous|Line Propagating
1517291|IGL00645|2|125317103|Disrupted splicing||N/A|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|A|G|17|39.0|Splice|Line Propagating
1518245|IGL00647|15|6483083|H->N|0.01|Benign|MGI:1098282|C9|complement component 9 [Source:MGI Symbol;Acc:MGI:1098282]|Heterozygous||C|A|103|39.0|Non-synonymous|Line Propagating
1518246|IGL00647|13|61162742|N->S|0.99|Probably damaging|MGI:1861723|Ctsr|cathepsin R [Source:MGI Symbol;Acc:MGI:1861723]|Heterozygous||T|C|46|40.0|Non-synonymous|Line Propagating
1518247|IGL00647|19|40914686|P->S|0.99|Probably damaging|MGI:1919922|Zfp518a|zinc finger protein 518A [Source:MGI Symbol;Acc:MGI:1919922]|Heterozygous||C|T|38|40.0|Non-synonymous|Line Propagating
1518248|IGL00647|15|79671898|F->I|1.0|Probably damaging|MGI:2450248|Tomm22|translocase of outer mitochondrial membrane 22 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2450248]|Heterozygous||T|A|24|39.5|Non-synonymous|Line Propagating
1518249|IGL00647|6|122526016|V->M|0.67|Possibly damaging|MGI:1354387|Mfap5|microfibrillar associated protein 5 [Source:MGI Symbol;Acc:MGI:1354387]|Heterozygous||G|A|23|39.0|Non-synonymous|Line Propagating
1518250|IGL00647|8|92830684|T->A||Benign|MGI:97009|Mmp2|matrix metallopeptidase 2 [Source:MGI Symbol;Acc:MGI:97009]|Heterozygous|Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland.|A|G|22|37.0|Non-synonymous|Line Propagating
1518251|IGL00647|1|34552539|T->A||Unknown|MGI:1270857|Prss40|protease, serine, 40 [Source:MGI Symbol;Acc:MGI:1270857]|Heterozygous||T|C|21|37.0|Non-synonymous|Line Propagating
1518252|IGL00647|12|91537500|E->G|1.0|Probably damaging|MGI:98849|Tshr|thyroid stimulating hormone receptor [Source:MGI Symbol;Acc:MGI:98849]|Heterozygous|Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality.|A|G|19|37.0|Non-synonymous|Line Propagating
1518253|IGL00647|17|85063805|V->D|1.0|Probably damaging|MGI:1195264|Slc3a1|solute carrier family 3, member 1 [Source:MGI Symbol;Acc:MGI:1195264]|Heterozygous|Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I.|T|A|16|39.5|Non-synonymous|Line Propagating
1518254|IGL00647|2|101630617|D->G|0.15|Benign|MGI:97849|Rag2|recombination activating gene 2 [Source:MGI Symbol;Acc:MGI:97849]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination.|A|G|16|39.0|Non-synonymous|Line Propagating
1518255|IGL00647|12|4613311|Disrupted splicing||N/A|MGI:1338049|Itsn2|intersectin 2 [Source:MGI Symbol;Acc:MGI:1338049]|Heterozygous||T|C|31|40.0|Splice|Line Propagating
1518256|IGL00647|14|46817381|Disrupted splicing||N/A|MGI:1927133|Gmfb|glia maturation factor, beta [Source:MGI Symbol;Acc:MGI:1927133]|Heterozygous|Homozygous null mice display impaired balance and eye blink conditioning behavior and abnormal metencephalon morphology.|C|T|22|39.0|Splice|Line Propagating
1519222|IGL00650|6|130179097|K->E|0.18|Benign|MGI:1321153|Klra9|killer cell lectin-like receptor subfamily A, member 9 [Source:MGI Symbol;Acc:MGI:1321153]|Heterozygous||T|C|74|41.0|Non-synonymous|Line Propagating
1519223|IGL00650|7|128664267|W->R|1.0|Probably damaging|MGI:2141867|Inpp5f|inositol polyphosphate-5-phosphatase F [Source:MGI Symbol;Acc:MGI:2141867]|Heterozygous|Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy.|T|A|67|40.0|Non-synonymous|Line Propagating
1519224|IGL00650|2|66280793|G->D|0.95|Possibly damaging|MGI:98246|Scn1a|sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethality, seizures, and abnormal behavior. Mice heterozygous for a knock-out allele exhibit premature death and seizures associated with abnormal nervous system electrophysiology.|C|T|54|38.0|Non-synonymous|Line Propagating
1519226|IGL00650|X|113043595|F->S|1.0|Probably damaging|MGI:892979|Chm|choroidermia [Source:MGI Symbol;Acc:MGI:892979]|Heterozygous|For one disruption of this gene, heterozygous female and hemizygous male null mice display embryonic lethality with abnormal extraembryonic tissue development. For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina.|A|G|37|37.0|Non-synonymous|Line Propagating
1519227|IGL00650|X|163939317|M->K|0.02|Benign|MGI:103287|Zrsr2|zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 [Source:MGI Symbol;Acc:MGI:103287]|Heterozygous||A|T|33|39.0|Non-synonymous|Line Propagating
1519228|IGL00650|17|79070889|V->M|1.0|Probably damaging|MGI:1917786|Qpct|glutaminyl-peptide cyclotransferase (glutaminyl cyclase) [Source:MGI Symbol;Acc:MGI:1917786]|Heterozygous|Mice exhibit normal motor coordination and spatial working memory.|G|A|23|39.0|Non-synonymous|Line Propagating
1519229|IGL00650|17|46208246|Y->H|1.0|Probably damaging|MGI:1913789|Xpo5|exportin 5 [Source:MGI Symbol;Acc:MGI:1913789]|Heterozygous||T|C|22|37.0|Non-synonymous|Line Propagating
1519230|IGL00650|13|76127507|D->G||N/A|MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||A|G|18|37.0|Non-synonymous|Line Propagating
1519231|IGL00650|14|20729668|I->S|0.8|Possibly damaging|MGI:97040|Ndst2|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 [Source:MGI Symbol;Acc:MGI:97040]|Heterozygous|Mice homozugous for a null allele exhibit reduced mast cell numbers, histamine storage, protease storage and degranulation.|A|C|18|37.0|Non-synonymous|Line Propagating
1519232|IGL00650|2|122333141|M->K|0.66|Possibly damaging|MGI:2139422|Duox1|dual oxidase 1 [Source:MGI Symbol;Acc:MGI:2139422]|Heterozygous||T|A|18|39.5|Non-synonymous|Line Propagating
1519233|IGL00650|16|4716376|L->Q||Benign|MGI:1915074|Nmral1|NmrA-like family domain containing 1 [Source:MGI Symbol;Acc:MGI:1915074]|Heterozygous||A|T|16|37.0|Non-synonymous|Line Propagating
1519234|IGL00650|7|97681889|Disrupted splicing||N/A|MGI:2682305|Rsf1|remodeling and spacing factor 1 [Source:MGI Symbol;Acc:MGI:2682305]|Heterozygous||T|C|68|40.0|Splice|Line Propagating
1519235|IGL00650|X|36006593|Disrupted splicing||N/A|MGI:1923224|Dock11|dedicator of cytokinesis 11 [Source:MGI Symbol;Acc:MGI:1923224]|Heterozygous||A|T|35|39.0|Splice|Line Propagating
1519236|IGL00650|3|20105632|Disrupted splicing||N/A|MGI:1196437|Hltf|helicase-like transcription factor [Source:MGI Symbol;Acc:MGI:1196437]|Heterozygous||T|C|17|39.0|Splice|Line Propagating
1520737|IGL00654|14|68649428|T->A||Benign|MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||T|C|48|37.5|Non-synonymous|Line Propagating
1520738|IGL00654|7|107196144|L->F|1.0|Probably damaging|MGI:1924108|Nlrp14|NLR family, pyrin domain containing 14 [Source:MGI Symbol;Acc:MGI:1924108]|Heterozygous||G|T|48|39.0|Non-synonymous|Line Propagating
1520739|IGL00654|14|78609593|M->R|0.71|Possibly damaging|MGI:2444188|Dgkh|diacylglycerol kinase, eta [Source:MGI Symbol;Acc:MGI:2444188]|Heterozygous||A|C|43|38.0|Non-synonymous|Line Propagating
1520740|IGL00654|4|94827301|T->A||Benign|MGI:98664|Tek|endothelial-specific receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:98664]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.|A|G|38|37.5|Non-synonymous|Line Propagating
1520741|IGL00654|10|52312849|I->L||Benign|MGI:1913936|Dcbld1|discoidin, CUB and LCCL domain containing 1 [Source:MGI Symbol;Acc:MGI:1913936]|Heterozygous||A|C|32|39.0|Non-synonymous|Line Propagating
1520744|IGL00654|13|93094161|S->L|0.1|Benign|MGI:1923719|Cmya5|cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]|Heterozygous||G|A|24|40.0|Non-synonymous|Line Propagating
1520746|IGL00654|10|45115173|R->W|1.0|Probably damaging|MGI:1270863|Prep|prolyl endopeptidase [Source:MGI Symbol;Acc:MGI:1270863]|Heterozygous|Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity.|C|T|22|37.0|Non-synonymous|Line Propagating
1520747|IGL00654|10|21141826|D->G||Benign|MGI:97249|Myb|myeloblastosis oncogene [Source:MGI Symbol;Acc:MGI:97249]|Heterozygous|Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected.|T|C|20|38.5|Non-synonymous|Line Propagating
1520748|IGL00654|16|5087308|I->V|0.88|Possibly damaging|MGI:1194898|Ppl|periplakin [Source:MGI Symbol;Acc:MGI:1194898]|Heterozygous|Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities.|T|C|20|39.5|Non-synonymous|Line Propagating
1520749|IGL00654|18|37443721|D->V|0.05|Benign|MGI:2136748|Pcdhb13|protocadherin beta 13 [Source:MGI Symbol;Acc:MGI:2136748]|Heterozygous||A|T|20|38.5|Non-synonymous|Line Propagating
1520750|IGL00654|6|72328624|L->P|1.0|Probably damaging|MGI:107622|Usp39|ubiquitin specific peptidase 39 [Source:MGI Symbol;Acc:MGI:107622]|Heterozygous||A|G|20|39.0|Non-synonymous|Line Propagating
1520751|IGL00654|15|82314210|V->A|0.02|Benign|MGI:1921966|Wbp2nl|WBP2 N-terminal like [Source:MGI Symbol;Acc:MGI:1921966]|Heterozygous||T|C|17|38.0|Non-synonymous|Line Propagating
1520753|IGL00654|4|128617440|G->E|0.99|Probably damaging|MGI:3045221|Tlr12|toll-like receptor 12 [Source:MGI Symbol;Acc:MGI:3045221]|Heterozygous||C|T|17|39.0|Non-synonymous|Line Propagating
1520754|IGL00654|1|60195011|Disrupted splicing||N/A|MGI:2444343|Nbeal1|neurobeachin like 1 [Source:MGI Symbol;Acc:MGI:2444343]|Heterozygous||A|G|73|41.0|Splice|Line Propagating
1520755|IGL00654|5|107603631|Disrupted splicing||N/A|MGI:2141142|Rpap2|RNA polymerase II associated protein 2 [Source:MGI Symbol;Acc:MGI:2141142]|Heterozygous||A|T|69|39.0|Splice|Line Propagating
1520756|IGL00654|16|32824377|Disrupted splicing||N/A|MGI:1915160|1700021k19rik|RIKEN cDNA 1700021K19 gene [Source:MGI Symbol;Acc:MGI:1915160]|Heterozygous||A|T|23|34.0|Splice|Line Propagating
1520757|IGL00654|5|129854077|Disrupted splicing||N/A|MGI:1915152|Sumf2|sulfatase modifying factor 2 [Source:MGI Symbol;Acc:MGI:1915152]|Heterozygous||G|T|23|37.0|Splice|Line Propagating
1520758|IGL00654|14|31032404|Disrupted splicing||N/A|MGI:1923998|Pbrm1|polybromo 1 [Source:MGI Symbol;Acc:MGI:1923998]|Heterozygous|Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.|T|A|16|40.0|Splice|Line Propagating
1521796|IGL00656|1|139547755|N->S||Benign|MGI:2138169|Cfhr1|complement factor H-related 1 [Source:MGI Symbol;Acc:MGI:2138169]|Heterozygous||T|C|85|41.0|Non-synonymous|Line Propagating
1521797|IGL00656|1|156031467|N->S||Benign|MGI:3582693|Tor1aip1|torsin A interacting protein 1 [Source:MGI Symbol;Acc:MGI:3582693]|Heterozygous||T|C|71|41.0|Non-synonymous|Line Propagating
1521798|IGL00656|5|121795055|I->V||Benign|MGI:1277223|Atxn2|ataxin 2 [Source:MGI Symbol;Acc:MGI:1277223]|Heterozygous|Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable.|A|G|68|38.0|Non-synonymous|Line Propagating
1521799|IGL00656|1|26682901|V->A|0.91|Possibly damaging|MGI:3588222|4931408c20rik|RIKEN cDNA 4931408C20 gene [Source:MGI Symbol;Acc:MGI:3588222]|Heterozygous||A|G|66|39.0|Non-synonymous|Line Propagating
1521800|IGL00656|2|156162871|V->A|1.0|Probably damaging|MGI:2157953|Rbm39|RNA binding motif protein 39 [Source:MGI Symbol;Acc:MGI:2157953]|Heterozygous|Homozygous disruption of this locus results in embryonic lethality.|A|G|55|39.0|Non-synonymous|Line Propagating
1521801|IGL00656|5|145372549|I->M|0.59|Possibly damaging|MGI:3646373|Cyp3a57|cytochrome P450, family 3, subfamily a, polypeptide 57 [Source:MGI Symbol;Acc:MGI:3646373]|Heterozygous||A|G|46|40.0|Non-synonymous|Line Propagating
1521802|IGL00656|19|47098170|D->G|1.0|Probably damaging|MGI:1341788|Pdcd11|programmed cell death 11 [Source:MGI Symbol;Acc:MGI:1341788]|Heterozygous||A|G|35|38.0|Non-synonymous|Line Propagating
1521803|IGL00656|5|120919207|Y->C|0.83|Possibly damaging|MGI:2140770|Oas1d|2'-5' oligoadenylate synthetase 1D [Source:MGI Symbol;Acc:MGI:2140770]|Heterozygous|Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation.|A|G|27|37.0|Non-synonymous|Line Propagating
1521804|IGL00656|7|104141777|T->A||Benign|MGI:3045291|Ubqln3|ubiquilin 3 [Source:MGI Symbol;Acc:MGI:3045291]|Heterozygous||T|C|25|40.0|Non-synonymous|Line Propagating
1521805|IGL00656|9|7581382|T->P|0.8|Possibly damaging|MGI:3039232|Mmp27|matrix metallopeptidase 27 [Source:MGI Symbol;Acc:MGI:3039232]|Heterozygous||A|C|23|40.0|Non-synonymous|Line Propagating
1521806|IGL00656|2|167019966|D->E||Benign|MGI:2385884|Ddx27|DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 [Source:MGI Symbol;Acc:MGI:2385884]|Heterozygous||T|A|19|40.0|Non-synonymous|Line Propagating
1521807|IGL00656|8|71643147|A->V|0.98|Probably damaging|MGI:3051532|Unc13a|unc-13 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:3051532]|Heterozygous||G|A|17|39.0|Non-synonymous|Line Propagating
1521808|IGL00656|6|7680215|Disrupted splicing||N/A|MGI:1350929|Asns|asparagine synthetase [Source:MGI Symbol;Acc:MGI:1350929]|Heterozygous||A|T|43|40.0|Splice|Line Propagating
1521809|IGL00656|12|31349595|Disrupted splicing||N/A|MGI:107450|Dld|dihydrolipoamide dehydrogenase [Source:MGI Symbol;Acc:MGI:107450]|Heterozygous|Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.|A|G|42|39.0|Splice|Line Propagating
1521810|IGL00656|9|85717545|Disrupted splicing||N/A|MGI:1918677|Ibtk|inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:MGI Symbol;Acc:MGI:1918677]|Heterozygous||A|G|28|37.0|Splice|Line Propagating
1521811|IGL00656|2|37603138|Disrupted splicing||N/A|MGI:104626|Strbp|spermatid perinuclear RNA binding protein [Source:MGI Symbol;Acc:MGI:104626]|Heterozygous|Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted.|T|C|20|40.0|Splice|Line Propagating
1521812|IGL00656|7|35206028|Disrupted splicing||N/A|MGI:3584516|Lrp3|low density lipoprotein receptor-related protein 3 [Source:MGI Symbol;Acc:MGI:3584516]|Heterozygous||T|C|20|40.0|Splice|Line Propagating
1522337|IGL00657|15|34600078|Y->H|1.0|Probably damaging|MGI:1924488|Nipal2|NIPA-like domain containing 2 [Source:MGI Symbol;Acc:MGI:1924488]|Heterozygous||A|G|74|40.0|Non-synonymous|Line Propagating
1522338|IGL00657|6|46988787|D->G|1.0|Probably damaging|MGI:1914047|Cntnap2|contactin associated protein-like 2 [Source:MGI Symbol;Acc:MGI:1914047]|Heterozygous|Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.|A|G|42|38.0|Non-synonymous|Line Propagating
1522339|IGL00657|5|100404017|Q->Stop||N/A|MGI:1916412|Sec31a|Sec31 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1916412]|Heterozygous||G|A|38|39.0|Non-synonymous|Line Propagating
1522340|IGL00657|2|109093207|I->T|1.0|Probably damaging|MGI:1924144|Mettl15|methyltransferase like 15 [Source:MGI Symbol;Acc:MGI:1924144]|Heterozygous||A|G|30|39.0|Non-synonymous|Line Propagating
1522341|IGL00657|1|83276375|C->R|0.99|Probably damaging|MGI:1924879|Sphkap|SPHK1 interactor, AKAP domain containing [Source:MGI Symbol;Acc:MGI:1924879]|Heterozygous||A|G|26|38.0|Non-synonymous|Line Propagating
1522342|IGL00657|7|121648231|S->P||Benign|MGI:2158502|Usp31|ubiquitin specific peptidase 31 [Source:MGI Symbol;Acc:MGI:1923429]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
1522343|IGL00657|3|104467171|E->G|0.01|Benign|MGI:2443718|Lrig2|leucine-rich repeats and immunoglobulin-like domains 2 [Source:MGI Symbol;Acc:MGI:2443718]|Heterozygous||T|C|24|38.5|Non-synonymous|Line Propagating
1522344|IGL00657|4|116604219|Y->C|1.0|Probably damaging|MGI:1355328|Nasp|nuclear autoantigenic sperm protein (histone-binding) [Source:MGI Symbol;Acc:MGI:1355328]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality before implantation.|T|C|23|40.0|Non-synonymous|Line Propagating
1522345|IGL00657|7|90401410|R->G|0.51|Possibly damaging|MGI:1933366|Sytl2|synaptotagmin-like 2 [Source:MGI Symbol;Acc:MGI:1933366]|Heterozygous|Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells|A|G|19|39.0|Non-synonymous|Line Propagating
1522346|IGL00657|13|46681150|Disrupted splicing||N/A|MGI:2385621|Nup153|nucleoporin 153 [Source:MGI Symbol;Acc:MGI:2385621]|Heterozygous||T|A|19|39.0|Splice|Line Propagating
1523329|IGL00659|2|127063301|V->A|0.36|Benign|MGI:1336993|Ap4e1|adaptor-related protein complex AP-4, epsilon 1 [Source:MGI Symbol;Acc:MGI:1336993]|Heterozygous||T|C|104|39.0|Non-synonymous|Line Propagating
1523330|IGL00659|8|86861802|D->E|1.0|Probably damaging|MGI:2136825|N4bp1|NEDD4 binding protein 1 [Source:MGI Symbol;Acc:MGI:2136825]|Heterozygous||G|T|66|40.0|Non-synonymous|Line Propagating
1523331|IGL00659|4|139421245|T->I||Unknown|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||C|T|60|40.0|Non-synonymous|Line Propagating
1523332|IGL00659|3|83070673|S->T|0.98|Probably damaging|MGI:1858197|Plrg1|pleiotropic regulator 1, PRL1 homolog (Arabidopsis) [Source:MGI Symbol;Acc:MGI:1858197]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5.|T|A|48|37.0|Non-synonymous|Line Propagating
1523333|IGL00659|5|145007246|I->F|0.99|Probably damaging|MGI:2141165|Kpna7|karyopherin alpha 7 (importin alpha 8) [Source:MGI Symbol;Acc:MGI:2141165]|Heterozygous||T|A|45|40.0|Non-synonymous|Line Propagating
1523334|IGL00659|3|129836813|K->E||Unknown|MGI:105937|Cfi|complement component factor i [Source:MGI Symbol;Acc:MGI:105937]|Heterozygous|Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritis type II. Plasma C3 circulates as C3b.|A|G|37|37.0|Non-synonymous|Line Propagating
1523335|IGL00659|7|26557625|I->V|0.03|Benign|MGI:2675292|Nlrp9a|NLR family, pyrin domain containing 9A [Source:MGI Symbol;Acc:MGI:2675292]|Heterozygous||A|G|31|39.0|Non-synonymous|Line Propagating
1523336|IGL00659|7|6962282|N->D|0.99|Probably damaging|MGI:1888998|Usp29|ubiquitin specific peptidase 29 [Source:MGI Symbol;Acc:MGI:1888998]|Heterozygous||A|G|29|40.0|Non-synonymous|Line Propagating
1523337|IGL00659|8|119312667|D->G|1.0|Probably damaging|MGI:99551|Cdh13|cadherin 13 [Source:MGI Symbol;Acc:MGI:99551]|Heterozygous|Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels.|A|G|26|37.0|Non-synonymous|Line Propagating
1523338|IGL00659|10|117702299|R->G|0.04|Benign|MGI:96952|Mdm2|transformed mouse 3T3 cell double minute 2 [Source:MGI Symbol;Acc:MGI:96952]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit alters cell cycle regulation.|T|C|21|39.0|Non-synonymous|Line Propagating
1523339|IGL00659|10|128570983|S->P||Benign|MGI:95411|Erbb3|v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) [Source:MGI Symbol;Acc:MGI:95411]|Heterozygous|Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality.|A|G|19|38.0|Non-synonymous|Line Propagating
1523340|IGL00659|11|69640250|Q->K|0.01|Benign|MGI:1346074|Fxr2|fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.|C|A|19|38.0|Non-synonymous|Line Propagating
1523341|IGL00659|17|74660653|V->E|0.08|Benign|MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|T|A|18|40.0|Non-synonymous|Line Propagating
1523342|IGL00659|6|116626505|Q->Stop||N/A|MGI:1914505|Zfp422|zinc finger protein 422 [Source:MGI Symbol;Acc:MGI:1914505]|Heterozygous||G|A|17|41.0|Non-synonymous|Line Propagating
1523343|IGL00659|10|82227521|Disrupted splicing||N/A|MGI:3621440|Zfp938|zinc finger protein 938 [Source:MGI Symbol;Acc:MGI:3621440]|Heterozygous||T|A|148|41.0|Splice|Line Propagating
1523344|IGL00659|10|83191805|Disrupted splicing||N/A|MGI:1927166|Chst11|carbohydrate sulfotransferase 11 [Source:MGI Symbol;Acc:MGI:1927166]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, dwarfism, and abnormal skeletal structures.|T|G|68|34.0|Splice|Line Propagating
1523345|IGL00659|9|36722599|Disrupted splicing||N/A|MGI:1202065|Chek1|checkpoint kinase 1 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1202065]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic lethality between E2.5 and E7.5, impaired cell cycle checkpoint function, increase in blastocyst apoptosis and lack of inner cell mass proliferation.|C|A|62|40.0|Splice|Line Propagating
1523346|IGL00659|8|33322377|Disrupted splicing||N/A|MGI:109635|Wrn|Werner syndrome homolog (human) [Source:MGI Symbol;Acc:MGI:109635]|Heterozygous|Homozygous mutants show enhanced frequency and variety of tumors in conjunction with Trp53 knockout alleles. Homozygotes also have an elevated frequency of somatic reversion of the pink-eyed dilution unstable mutation.|A|G|50|39.5|Splice|Line Propagating
1523347|IGL00659|4|62333680|Disrupted splicing||N/A|MGI:2444782|Fkbp15|FK506 binding protein 15 [Source:MGI Symbol;Acc:MGI:2444782]|Heterozygous||T|C|49|39.0|Splice|Line Propagating
1523348|IGL00659|13|112966635|Disrupted splicing||N/A|MGI:2145374|Dhx29|DEAH (Asp-Glu-Ala-His) box polypeptide 29 [Source:MGI Symbol;Acc:MGI:2145374]|Heterozygous||A|G|48|39.0|Splice|Line Propagating
1523349|IGL00659|2|144583770|Disrupted splicing||N/A|MGI:1350925|Sec23b|SEC23B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1350925]|Heterozygous||T|C|46|39.0|Splice|Line Propagating
1523350|IGL00659|4|104801334|Disrupted splicing||N/A|MGI:88236|C8b|complement component 8, beta polypeptide [Source:MGI Symbol;Acc:MGI:88236]|Heterozygous|In a controlled microbial environment (clean) laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype.|T|A|45|38.0|Splice|Line Propagating
1523351|IGL00659|2|129118100|Disrupted splicing||N/A|MGI:108014|Polr1b|polymerase (RNA) I polypeptide B [Source:MGI Symbol;Acc:MGI:108014]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation.|T|C|16|39.5|Splice|Line Propagating
1524938|IGL00662|19|16704540|K->I|0.87|Possibly damaging|MGI:2444304|Vps13a|vacuolar protein sorting 13A (yeast) [Source:MGI Symbol;Acc:MGI:2444304]|Heterozygous|Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain.|T|A|206|39.0|Non-synonymous|Line Propagating
1524939|IGL00662|10|12664961|E->K|1.0|Probably damaging|MGI:104631|Utrn|utrophin [Source:MGI Symbol;Acc:MGI:104631]|Heterozygous|Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.|C|T|158|40.0|Non-synonymous|Line Propagating
1524940|IGL00662|19|44097210|F->I|0.22|Benign|MGI:99484|Chuk|conserved helix-loop-helix ubiquitous kinase [Source:MGI Symbol;Acc:MGI:99484]|Heterozygous|Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.|A|T|73|39.0|Non-synonymous|Line Propagating
1524941|IGL00662|9|15996427|I->F|0.41|Benign|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||T|A|57|39.0|Non-synonymous|Line Propagating
1524942|IGL00662|1|187117339|N->S||Benign|MGI:1921967|Spata17|spermatogenesis associated 17 [Source:MGI Symbol;Acc:MGI:1921967]|Heterozygous||T|C|53|37.0|Non-synonymous|Line Propagating
1524943|IGL00662|13|60798942|S->P|0.88|Possibly damaging|MGI:1917452|Ctsll3|cathepsin L-like 3 [Source:MGI Symbol;Acc:MGI:1917452]|Heterozygous||A|G|51|39.0|Non-synonymous|Line Propagating
1524944|IGL00662|9|40211043|N->S||Benign|MGI:1933401|Zfp202|zinc finger protein 202 [Source:MGI Symbol;Acc:MGI:1933401]|Heterozygous||A|G|51|39.0|Non-synonymous|Line Propagating
1524945|IGL00662|5|45693160|S->T||Benign|MGI:1930197|Ncapg|non-SMC condensin I complex, subunit G [Source:MGI Symbol;Acc:MGI:1930197]|Heterozygous||T|A|49|38.0|Non-synonymous|Line Propagating
1524946|IGL00662|1|125587424|L->H|1.0|Probably damaging|MGI:1921400|Slc35f5|solute carrier family 35, member F5 [Source:MGI Symbol;Acc:MGI:1921400]|Heterozygous||T|A|48|37.0|Non-synonymous|Line Propagating
1524947|IGL00662|8|40905622|Y->C|1.0|Probably damaging|MGI:99828|Slc7a2|solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 [Source:MGI Symbol;Acc:MGI:99828]|Heterozygous|Homozygotes for a targeted null allele exhibit a marked reduction of nitric oxide production by cytokine-activated macrophages.|A|G|41|35.0|Non-synonymous|Line Propagating
1524948|IGL00662|6|29565846|L->Stop||N/A|MGI:1196412|Tnpo3|transportin 3 [Source:MGI Symbol;Acc:MGI:1196412]|Heterozygous||A|T|33|40.0|Non-synonymous|Line Propagating
1524949|IGL00662|6|83675926|I->T|0.81|Possibly damaging|MGI:2180021|Cd207|CD207 antigen [Source:MGI Symbol;Acc:MGI:2180021]|Heterozygous||A|G|31|40.0|Non-synonymous|Line Propagating
1524950|IGL00662|1|57956738|T->A|1.0|Probably damaging|MGI:3603813|Kctd18|potassium channel tetramerisation domain containing 18 [Source:MGI Symbol;Acc:MGI:3603813]|Heterozygous||T|C|29|39.0|Non-synonymous|Line Propagating
1524951|IGL00662|1|40541921|R->C|0.99|Probably damaging|MGI:1338888|Il18rap|interleukin 18 receptor accessory protein [Source:MGI Symbol;Acc:MGI:1338888]|Heterozygous|Homozygous null mice exhibit defective IL-18-mediated immune responses such as the inability of splenocytes, T helper 1 cells and neutrophils to produce cytokines in response to IL-18.|C|T|27|40.0|Non-synonymous|Line Propagating
1524952|IGL00662|7|102194987|N->I|1.0|Probably damaging|MGI:109404|Nup98|nucleoporin 98 [Source:MGI Symbol;Acc:MGI:109404]|Heterozygous|Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions.|T|A|27|39.0|Non-synonymous|Line Propagating
1524953|IGL00662|7|101289896|N->S||Benign|MGI:1920933|Atg16l2|autophagy related 16 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1920933]|Heterozygous||T|C|26|35.5|Non-synonymous|Line Propagating
1524954|IGL00662|15|72546075|S->P|0.98|Probably damaging|MGI:3521816|Kcnk9|potassium channel, subfamily K, member 9 [Source:MGI Symbol;Acc:MGI:3521816]|Heterozygous||A|G|20|38.0|Non-synonymous|Line Propagating
1524955|IGL00662|16|57303729|D->G|0.95|Possibly damaging|MGI:1913747|2610528e23rik|RIKEN cDNA 2610528E23 gene [Source:MGI Symbol;Acc:MGI:1913747]|Heterozygous||T|C|20|39.5|Non-synonymous|Line Propagating
1524956|IGL00662|15|10490409|N->S|0.25|Benign|MGI:1316678|Rad1|RAD1 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1316678]|Heterozygous|Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination.|A|G|19|38.0|Non-synonymous|Line Propagating
1524957|IGL00662|6|87902370|T->I|0.9|Possibly damaging|MGI:1858696|Copg|coatomer protein complex, subunit gamma [Source:MGI Symbol;Acc:MGI:1858696]|Heterozygous||C|T|19|35.0|Non-synonymous|Line Propagating
1524958|IGL00662|2|172551518|Y->H|0.63|Possibly damaging|MGI:106032|Tcfap2c|transcription factor AP-2, gamma [Source:MGI Symbol;Acc:MGI:106032]|Heterozygous||T|C|16|30.5|Non-synonymous|Line Propagating
1524959|IGL00662|3|122512936|A->V||Benign|MGI:1352501|Bcar3|breast cancer anti-estrogen resistance 3 [Source:MGI Symbol;Acc:MGI:1352501]|Heterozygous|Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers.|C|T|16|36.5|Non-synonymous|Line Propagating
1524960|IGL00662|3|109528392|Disrupted splicing||N/A|MGI:1888518|Vav3|vav 3 oncogene [Source:MGI Symbol;Acc:MGI:1888518]|Heterozygous|Homozygous mutation of this gene results in tachycardia, systemic arterial hypertension, cardiovascular remodeling, hyperactivity of sympathetic neurons and thus high catecholamine levels, and increased levels of kidney-related hormones.|T|A|179|39.0|Splice|Line Propagating
1524961|IGL00662|10|75168100|Disrupted splicing||N/A|MGI:88141|Bcr|breakpoint cluster region [Source:MGI Symbol;Acc:MGI:88141]|Heterozygous|Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia.|A|T|52|39.0|Splice|Line Propagating
1524962|IGL00662|8|116928587|Disrupted splicing||N/A|MGI:1919405|Cenpn|centromere protein N [Source:MGI Symbol;Acc:MGI:1919405]|Heterozygous||T|C|34|39.0|Splice|Line Propagating
1524963|IGL00662|5|30929675|Disrupted splicing||N/A|MGI:1096353|Khk|ketohexokinase [Source:MGI Symbol;Acc:MGI:1096353]|Heterozygous|Mice homozygous for alleles that do not produce isoform A or isoforms A and C exhibit normal fertility, development, blood chemistry, and tissue metabolite levels.|T|C|26|38.0|Splice|Line Propagating
1524964|IGL00662|4|40220389|Disrupted splicing||N/A|MGI:2442858|Ddx58|DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 [Source:MGI Symbol;Acc:MGI:2442858]|Heterozygous||A|G|19|40.0|Splice|Line Propagating
1524965|IGL00662|7|34215950|Disrupted splicing||N/A|MGI:95797|Gpi1|glucose phosphate isomerase 1 [Source:MGI Symbol;Acc:MGI:95797]|Heterozygous|Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly.|A|G|19|37.0|Splice|Line Propagating
1525512|IGL00663|8|90983490|Y->C||Unknown|MGI:1924001|Chd9|chromodomain helicase DNA binding protein 9 [Source:MGI Symbol;Acc:MGI:1924001]|Heterozygous||A|G|149|40.0|Non-synonymous|Line Propagating
1525513|IGL00663|11|77137036|S->A|0.84|Possibly damaging|MGI:2442440|Efcab5|EF-hand calcium binding domain 5 [Source:MGI Symbol;Acc:MGI:2442440]|Heterozygous||A|C|119|38.0|Non-synonymous|Line Propagating
1525514|IGL00663|11|23757043|M->T|0.08|Benign|MGI:97897|Rel|reticuloendotheliosis oncogene [Source:MGI Symbol;Acc:MGI:97897]|Heterozygous||A|G|91|41.0|Non-synonymous|Line Propagating
1525515|IGL00663|X|36889099|T->N|0.93|Possibly damaging|MGI:1924536|Nkrf|NF-kappaB repressing factor [Source:MGI Symbol;Acc:MGI:1924536]|Heterozygous|Homozygous female and hemizygous male null mice are viable and fertile with normal inflammatory responses, response to infection, peripheral blood cell populations and skin morphology.|G|T|36|37.0|Non-synonymous|Line Propagating
1525516|IGL00663|1|193187138|K->N|1.0|Probably damaging|MGI:2441706|Traf3ip3|TRAF3 interacting protein 3 [Source:MGI Symbol;Acc:MGI:2441706]|Heterozygous||T|A|35|40.0|Non-synonymous|Line Propagating
1525517|IGL00663|5|8927916|E->G|1.0|Probably damaging|MGI:97569|Abcb4|ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.|A|G|32|38.5|Non-synonymous|Line Propagating
1525518|IGL00663|2|122167714|T->A||Benign|MGI:1918178|Trim69|tripartite motif-containing 69 [Source:MGI Symbol;Acc:MGI:1918178]|Heterozygous||A|G|29|36.0|Non-synonymous|Line Propagating
1525519|IGL00663|5|37421891|V->A|0.02|Benign|MGI:1915775|Evc2|Ellis van Creveld syndrome 2 homolog (human) [Source:MGI Symbol;Acc:MGI:1915775]|Heterozygous||T|C|25|36.0|Non-synonymous|Line Propagating
1525520|IGL00663|13|64922788|Q->Stop||N/A|MGI:1925374|4930458l03rik|RIKEN cDNA 4930458L03 gene [Source:MGI Symbol;Acc:MGI:1925374]|Heterozygous||C|T|18|39.0|Non-synonymous|Line Propagating
1525521|IGL00663|15|55411585|I->T||Unknown|MGI:1341272|Col14a1|collagen, type XIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1341272]|Heterozygous|Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons.|T|C|18|38.0|Non-synonymous|Line Propagating
1525522|IGL00663|13|4248129|Disrupted splicing||N/A|MGI:2653678|Akr1c19|aldo-keto reductase family 1, member C19 [Source:MGI Symbol;Acc:MGI:2653678]|Heterozygous||C|T|20|39.0|Splice|Line Propagating
1527024|IGL00666|2|146485136|S->G|0.62|Possibly damaging|MGI:3036245|Ralgapa2|Ral GTPase activating protein, alpha subunit 2 (catalytic) [Source:MGI Symbol;Acc:MGI:3036245]|Heterozygous||T|C|153|41.0|Non-synonymous|Line Propagating
1527025|IGL00666|16|73961700|T->S||Benign|MGI:1890110|Robo2|roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]|Heterozygous|Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.|T|A|106|39.0|Non-synonymous|Line Propagating
1527026|IGL00666|13|12410450|S->R|0.08|Benign|MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||T|A|70|39.0|Non-synonymous|Line Propagating
1527027|IGL00666|8|16189990|T->K|0.92|Possibly damaging|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||G|T|54|39.0|Non-synonymous|Line Propagating
1527028|IGL00666|10|85629216|V->A|0.32|Benign|MGI:1921257|Btbd11|BTB (POZ) domain containing 11 [Source:MGI Symbol;Acc:MGI:1921257]|Heterozygous||T|C|50|39.0|Non-synonymous|Line Propagating
1527029|IGL00666|2|119070464|I->K|0.66|Possibly damaging|MGI:1923714|Casc5|cancer susceptibility candidate 5 [Source:MGI Symbol;Acc:MGI:1923714]|Heterozygous||T|A|45|39.0|Non-synonymous|Line Propagating
1527030|IGL00666|6|82956665|Y->D|1.0|Probably damaging|MGI:1315200|D6mm5e|DNA segment, Chr 6, Miriam Meisler 5, expressed [Source:MGI Symbol;Acc:MGI:1315200]|Heterozygous||T|G|44|38.5|Non-synonymous|Line Propagating
1527031|IGL00666|16|15736835|R->H|1.0|Probably damaging|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|G|A|34|39.0|Non-synonymous|Line Propagating
1527032|IGL00666|13|84294596|Disrupted splicing||N/A|MGI:1919995|Tmem161b|transmembrane protein 161B [Source:MGI Symbol;Acc:MGI:1919995]|Heterozygous||A|G|102|39.0|Splice|Line Propagating
1531766|IGL00675|11|110304985|D->E|1.0|Probably damaging|MGI:2386607|Abca5|ATP-binding cassette, sub-family A (ABC1), member 5 [Source:MGI Symbol;Acc:MGI:2386607]|Heterozygous|Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background.|A|T|105|40.0|Non-synonymous|Line Propagating
1531767|IGL00675|7|20023186|I->K|0.43|Benign|MGI:2675377|Nlrp9b|NLR family, pyrin domain containing 9B [Source:MGI Symbol;Acc:MGI:2675377]|Heterozygous||T|A|63|40.0|Non-synonymous|Line Propagating
1531768|IGL00675|15|38018284|V->I|0.44|Possibly damaging|MGI:1918040|Ubr5|ubiquitin protein ligase E3 component n-recognin 5 [Source:MGI Symbol;Acc:MGI:1918040]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis.|C|T|44|41.0|Non-synonymous|Line Propagating
1531769|IGL00675|16|15787158|L->P|0.09|Benign|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|C|44|41.0|Non-synonymous|Line Propagating
1531770|IGL00675|8|34167808|S->T||Benign|MGI:1915137|Tmem66|transmembrane protein 66 [Source:MGI Symbol;Acc:MGI:1915137]|Heterozygous||T|A|35|37.0|Non-synonymous|Line Propagating
1531771|IGL00675|10|23867168|K->N|0.2|Benign|MGI:1347055|Vnn3|vanin 3 [Source:MGI Symbol;Acc:MGI:1347055]|Heterozygous||G|T|34|41.0|Non-synonymous|Line Propagating
1531772|IGL00675|18|20391918|L->Stop||N/A|MGI:2664357|Dsg1b|desmoglein 1 beta [Source:MGI Symbol;Acc:MGI:2664357]|Heterozygous||T|A|27|37.0|Non-synonymous|Line Propagating
1531773|IGL00675|11|50300996|S->P|0.06|Benign|MGI:88261|Canx|calnexin [Source:MGI Symbol;Acc:MGI:88261]|Heterozygous|Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age.|A|G|22|36.5|Non-synonymous|Line Propagating
1531774|IGL00675|15|84200375|S->F|1.0|Probably damaging|MGI:1915903|Samm50|sorting and assembly machinery component 50 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915903]|Heterozygous||C|T|22|38.5|Non-synonymous|Line Propagating
1531775|IGL00675|3|98111675|Y->H|0.02|Benign|MGI:97364|Notch2|Notch gene homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:97364]|Heterozygous||T|C|21|36.0|Non-synonymous|Line Propagating
1531776|IGL00675|8|25851849|E->G||N/A|MGI:1202300|Kcnu1|potassium channel, subfamily U, member 1 [Source:MGI Symbol;Acc:MGI:1202300]|Heterozygous|Homozygous male mutants are infertile with impaird sperm capacitation.|A|G|21|39.0|Non-synonymous|Line Propagating
1531777|IGL00675|15|13041439|D->G|1.0|Probably damaging|MGI:107435|Cdh6|cadherin 6 [Source:MGI Symbol;Acc:MGI:107435]|Heterozygous|Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons.|T|C|16|39.5|Non-synonymous|Line Propagating
1531778|IGL00675|6|142664621|F->L|1.0|Probably damaging|MGI:1352630|Abcc9|ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:MGI Symbol;Acc:MGI:1352630]|Heterozygous|Mice homozygous for disruptions in this gene display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death starting at 6 weeks of age due to episodic coronary artery vasospasm.|A|G|16|38.0|Non-synonymous|Line Propagating
1531779|IGL00675|9|58019313|G->W|1.0|Probably damaging|MGI:88582|Cyp11a1|cytochrome P450, family 11, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88582]|Heterozygous|Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads.|G|T|16|37.5|Non-synonymous|Line Propagating
1531780|IGL00675|16|16333827|Disrupted splicing||N/A|MGI:1921256|Dnm1l|dynamin 1-like [Source:MGI Symbol;Acc:MGI:1921256]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5.|A|G|28|41.0|Splice|Line Propagating
1531781|IGL00675|17|27876917|Disrupted splicing||N/A|MGI:3041238|Uhrf1bp1|UHRF1 (ICBP90) binding protein 1 [Source:MGI Symbol;Acc:MGI:3041238]|Heterozygous||C|T|28|39.0|Splice|Line Propagating
1531782|IGL00675|14|20716901|Disrupted splicing||N/A|MGI:1919156|2310021p13rik|RIKEN cDNA 2310021P13 gene [Source:MGI Symbol;Acc:MGI:1919156]|Heterozygous||T|C|25|40.0|Splice|Line Propagating
1531783|IGL00675|12|75114189|Disrupted splicing||N/A|MGI:3584508|Kcnh5|potassium voltage-gated channel, subfamily H (eag-related), member 5 [Source:MGI Symbol;Acc:MGI:3584508]|Heterozygous||A|T|20|40.0|Splice|Line Propagating
1535210|IGL00686|X|154484132|T->I|0.84|Possibly damaging|MGI:1922435|4930542n07rik|RIKEN cDNA 4930542N07 gene [Source:MGI Symbol;Acc:MGI:1922435]|Heterozygous||C|T|46|41.0|Non-synonymous|Line Propagating
1535211|IGL00686|16|91055601|S->P||Benign|MGI:1921637|4932438h23rik|RIKEN cDNA 4932438H23 gene [Source:MGI Symbol;Acc:MGI:1921637]|Heterozygous||A|G|28|39.5|Non-synonymous|Line Propagating
1535212|IGL00686|15|71462319|S->P|0.82|Possibly damaging|MGI:1917613|Fam135b|family with sequence similarity 135, member B [Source:MGI Symbol;Acc:MGI:1917613]|Heterozygous||A|G|19|39.0|Non-synonymous|Line Propagating
1535213|IGL00686|4|32641433|D->G|1.0|Probably damaging|MGI:1349399|Casp8ap2|caspase 8 associated protein 2 [Source:MGI Symbol;Acc:MGI:1349399]|Heterozygous||A|G|19|38.0|Non-synonymous|Line Propagating
1535214|IGL00686|X|134559264|Y->H|1.0|Probably damaging|MGI:88216|Btk|Bruton agammaglobulinemia tyrosine kinase [Source:MGI Symbol;Acc:MGI:88216]|Heterozygous|Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice.|A|G|18|38.0|Non-synonymous|Line Propagating
1535215|IGL00686|10|82651513|N->Y|0.1|Benign|MGI:1922032|Glt8d2|glycosyltransferase 8 domain containing 2 [Source:MGI Symbol;Acc:MGI:1922032]|Heterozygous||T|A|17|37.0|Non-synonymous|Line Propagating
1535216|IGL00686|7|126825003|Disrupted splicing||N/A|MGI:1916202|Fam57b|family with sequence similarity 57, member B [Source:MGI Symbol;Acc:MGI:1916202]|Heterozygous||C|T|17|38.0|Splice|Line Propagating
1535635|IGL00687|8|126382164|F->L||Benign|MGI:2444426|Slc35f3|solute carrier family 35, member F3 [Source:MGI Symbol;Acc:MGI:2444426]|Heterozygous||T|C|218|39.0|Non-synonymous|Line Propagating
1535636|IGL00687|19|11421318|S->P|1.0|Probably damaging|MGI:1927656|Ms4a4c|membrane-spanning 4-domains, subfamily A, member 4C [Source:MGI Symbol;Acc:MGI:1927656]|Heterozygous||T|C|133|40.0|Non-synonymous|Line Propagating
1535637|IGL00687|5|104310068|E->G||Unknown|MGI:96389|Ibsp|integrin binding sialoprotein [Source:MGI Symbol;Acc:MGI:96389]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight/size and impaired long bone growth and mineralization, concomitant with severely reduced bone formation.|A|G|65|38.0|Non-synonymous|Line Propagating
1535638|IGL00687|11|74416259|D->V|0.99|Probably damaging|MGI:3028623|Rap1gap2|RAP1 GTPase activating protein 2 [Source:MGI Symbol;Acc:MGI:3028623]|Heterozygous||T|A|44|38.5|Non-synonymous|Line Propagating
1535640|IGL00687|14|75275093|I->M|0.35|Benign|MGI:1891837|Cpb2|carboxypeptidase B2 (plasma) [Source:MGI Symbol;Acc:MGI:1891837]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
1535641|IGL00687|1|20524070|N->S|0.01|Benign|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|T|C|21|40.0|Non-synonymous|Line Propagating
1535642|IGL00687|5|92065848|E->G|0.28|Benign|MGI:2442040|G3bp2|GTPase activating protein (SH3 domain) binding protein 2 [Source:MGI Symbol;Acc:MGI:2442040]|Heterozygous||T|C|17|40.0|Non-synonymous|Line Propagating
1535643|IGL00687|8|28715813|Disrupted splicing||N/A|MGI:2389364|Unc5d|unc-5 homolog D (C. elegans) [Source:MGI Symbol;Acc:MGI:2389364]|Heterozygous||A|T|51|39.0|Splice|Line Propagating
1535644|IGL00687|12|117922004|Disrupted splicing||N/A|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|T|A|38|39.0|Splice|Line Propagating
1535645|IGL00687|11|101030505|Disrupted splicing||N/A|MGI:103286|Atp6v0a1|ATPase, H+ transporting, lysosomal V0 subunit A1 [Source:MGI Symbol;Acc:MGI:103286]|Heterozygous||T|A|17|39.0|Splice|Line Propagating
1539243|IGL00694|14|52217970|V->G|1.0|Probably damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|A|C|197|38.0|Non-synonymous|Line Propagating
1539244|IGL00694|2|23230168|Q->L|0.16|Benign|MGI:1918231|4931423n10rik|RIKEN cDNA 4931423N10 gene [Source:MGI Symbol;Acc:MGI:1918231]|Heterozygous||A|T|143|40.0|Non-synonymous|Line Propagating
1539245|IGL00694|6|24570664|R->L|0.99|Probably damaging|MGI:1926160|Asb15|ankyrin repeat and SOCS box-containing 15 [Source:MGI Symbol;Acc:MGI:1926160]|Heterozygous||G|T|136|39.0|Non-synonymous|Line Propagating
1539246|IGL00694|19|39321635|T->S||Benign|MGI:103238|Cyp2c29|cytochrome P450, family 2, subfamily c, polypeptide 29 [Source:MGI Symbol;Acc:MGI:103238]|Heterozygous||A|T|116|39.0|Non-synonymous|Line Propagating
1539247|IGL00694|6|94534223|I->N|0.94|Possibly damaging|MGI:1914832|Slc25a26|solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 [Source:MGI Symbol;Acc:MGI:1914832]|Heterozygous|Embryos homozygous for a transposon insertion appear growth retarded and underdeveloped and die after E8.5 but prior to birth.|T|A|78|39.0|Non-synonymous|Line Propagating
1539248|IGL00694|8|110969581|H->L|0.97|Probably damaging|MGI:99427|St3gal2|ST3 beta-galactoside alpha-2,3-sialyltransferase 2 [Source:MGI Symbol;Acc:MGI:99427]|Heterozygous|Mice homozygous for disruptions in this gene apparently display a normal phenotype.|A|T|74|39.0|Non-synonymous|Line Propagating
1539250|IGL00694|5|100655314|S->N||Benign|MGI:1919133|Coq2|coenzyme Q2 homolog, prenyltransferase (yeast) [Source:MGI Symbol;Acc:MGI:1919133]|Heterozygous||C|T|62|40.0|Non-synonymous|Line Propagating
1539251|IGL00694|6|132657275|F->L||Benign|MGI:2681256|Tas2r120|taste receptor, type 2, member 120 [Source:MGI Symbol;Acc:MGI:2681256]|Heterozygous||T|C|51|39.0|Non-synonymous|Line Propagating
1539252|IGL00694|9|53563517|T->A||Benign|MGI:107605|Npat|nuclear protein in the AT region [Source:MGI Symbol;Acc:MGI:107605]|Heterozygous||A|G|45|40.0|Non-synonymous|Line Propagating
1539253|IGL00694|18|9989744|D->G|1.0|Probably damaging|MGI:1919668|Thoc1|THO complex 1 [Source:MGI Symbol;Acc:MGI:1919668]|Heterozygous|Mutations in this gene result in embryonic lethality around implantation in homozygotes.|A|G|44|40.0|Non-synonymous|Line Propagating
1539254|IGL00694|6|142790289|I->T|0.79|Possibly damaging|MGI:2685612|Gm766|predicted gene 766 [Source:MGI Symbol;Acc:MGI:2685612]|Heterozygous||A|G|43|40.0|Non-synonymous|Line Propagating
1539255|IGL00694|6|134849195|S->R|1.0|Probably damaging|MGI:1889385|Crebl2|cAMP responsive element binding protein-like 2 [Source:MGI Symbol;Acc:MGI:1889385]|Heterozygous||T|A|42|38.0|Non-synonymous|Line Propagating
1539256|IGL00694|2|114151525|D->E|1.0|Probably damaging|MGI:1276102|Aqr|aquarius [Source:MGI Symbol;Acc:MGI:1276102]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.|A|T|41|39.0|Non-synonymous|Line Propagating
1539257|IGL00694|15|57821760|N->S||Benign|MGI:2683087|Zhx2|zinc fingers and homeoboxes 2 [Source:MGI Symbol;Acc:MGI:2683087]|Heterozygous||A|G|38|36.5|Non-synonymous|Line Propagating
1539258|IGL00694|2|106967192|F->L|0.94|Possibly damaging|MGI:1926020|2700007p21rik|RIKEN cDNA 2700007P21 gene [Source:MGI Symbol;Acc:MGI:1926020]|Heterozygous||A|T|38|40.0|Non-synonymous|Line Propagating
1539259|IGL00694|7|81306708|V->A|0.19|Benign|MGI:1277116|Pde8a|phosphodiesterase 8A [Source:MGI Symbol;Acc:MGI:1277116]|Heterozygous|Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.|T|C|38|40.0|Non-synonymous|Line Propagating
1539260|IGL00694|2|34991629|I->V||Benign|MGI:96031|Hc|hemolytic complement [Source:MGI Symbol;Acc:MGI:96031]|Heterozygous|Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.|T|C|33|38.0|Non-synonymous|Line Propagating
1539261|IGL00694|18|58037809|E->A|0.59|Possibly damaging|MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|T|G|29|39.0|Non-synonymous|Line Propagating
1539262|IGL00694|5|25293161|F->I|1.0|Probably damaging|MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|A|T|29|36.0|Non-synonymous|Line Propagating
1539263|IGL00694|15|36227171|E->V|0.97|Probably damaging|MGI:1349387|Spag1|sperm associated antigen 1 [Source:MGI Symbol;Acc:MGI:1349387]|Heterozygous||A|T|26|38.5|Non-synonymous|Line Propagating
1539264|IGL00694|6|108841601|I->T|0.97|Probably damaging|MGI:2180139|Edem1|ER degradation enhancer, mannosidase alpha-like 1 [Source:MGI Symbol;Acc:MGI:2180139]|Heterozygous||T|C|24|39.5|Non-synonymous|Line Propagating
1539265|IGL00694|5|108613634|E->A|1.0|Probably damaging|MGI:2442153|Gak|cyclin G associated kinase [Source:MGI Symbol;Acc:MGI:2442153]|Heterozygous||T|G|23|40.0|Non-synonymous|Line Propagating
1539266|IGL00694|12|30105994|R->S|0.98|Probably damaging|MGI:98813|Tpo|thyroid peroxidase [Source:MGI Symbol;Acc:MGI:98813]|Heterozygous|Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months.|T|A|22|37.5|Non-synonymous|Line Propagating
1539267|IGL00694|8|35590771|R->Q|1.0|Probably damaging|MGI:1098644|Mfhas1|malignant fibrous histiocytoma amplified sequence 1 [Source:MGI Symbol;Acc:MGI:1098644]|Heterozygous||G|A|16|41.0|Non-synonymous|Line Propagating
1539268|IGL00694|3|151439396|Disrupted splicing||N/A|MGI:2655562|Eltd1|EGF, latrophilin seven transmembrane domain containing 1 [Source:MGI Symbol;Acc:MGI:2655562]|Heterozygous||T|C|48|38.0|Splice|Line Propagating
1540727|IGL00697|2|164289812|E->V|0.82|Possibly damaging|MGI:1927635|Svs3a|seminal vesicle secretory protein 3A [Source:MGI Symbol;Acc:MGI:1927635]|Heterozygous|At this locus, the a allele determines a slow anodally migrating enzyme band and occurs in the B10.AKM/Sn strain; the b allele determines a faster band and occurs in AKR.M/Sn, C3H/He and C57BL/10Orl strains. Heterozygotes have the two parental bands.|A|T|52|37.0|Non-synonymous|Line Propagating
1540728|IGL00697|3|108775008|D->E||Unknown|MGI:3584453|Aknad1|AKNA domain containing 1 [Source:MGI Symbol;Acc:MGI:3584453]|Heterozygous||T|A|47|40.0|Non-synonymous|Line Propagating
1540729|IGL00697|X|152339714|D->G|1.0|Probably damaging|MGI:106244|Tspyl2|TSPY-like 2 [Source:MGI Symbol;Acc:MGI:106244]|Heterozygous||T|C|41|38.0|Non-synonymous|Line Propagating
1540730|IGL00697|13|65066701|S->N||Benign|MGI:1913881|Hiatl1|hippocampus abundant transcript-like 1 [Source:MGI Symbol;Acc:MGI:1913881]|Heterozygous||C|T|36|40.0|Non-synonymous|Line Propagating
1540731|IGL00697|15|12373647|Y->C|0.16|Benign|MGI:1922394|Pdzd2|PDZ domain containing 2 [Source:MGI Symbol;Acc:MGI:1922394]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.|T|C|36|35.0|Non-synonymous|Line Propagating
1540732|IGL00697|5|23540379|R->Q|0.22|Benign|MGI:1201408|Srpk2|serine/arginine-rich protein specific kinase 2 [Source:MGI Symbol;Acc:MGI:1201408]|Heterozygous|Mice homozygous for a targeted allele exhibit normal phenotype.|C|T|29|39.0|Non-synonymous|Line Propagating
1540733|IGL00697|7|125795450|V->M|0.92|Possibly damaging|MGI:2442760|D430042o09rik|RIKEN cDNA D430042O09 gene [Source:MGI Symbol;Acc:MGI:2442760]|Heterozygous||G|A|28|40.0|Non-synonymous|Line Propagating
1540734|IGL00697|6|113314986|L->Q|1.0|Probably damaging|MGI:1926033|Brpf1|bromodomain and PHD finger containing, 1 [Source:MGI Symbol;Acc:MGI:1926033]|Heterozygous||T|A|24|38.5|Non-synonymous|Line Propagating
1540735|IGL00697|13|49709728|F->Y|1.0|Probably damaging|MGI:2145219|Iars|isoleucine-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2145219]|Heterozygous||T|A|16|38.0|Non-synonymous|Line Propagating
1540736|IGL00697|4|6417163|Disrupted splicing||N/A|MGI:1341864|Nsmaf|neutral sphingomyelinase (N-SMase) activation associated factor [Source:MGI Symbol;Acc:MGI:1341864]|Heterozygous|Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality.|A|G|163|37.0|Splice|Line Propagating
1540737|IGL00697|18|20524689|Disrupted splicing||N/A|MGI:99499|Dsg3|desmoglein 3 [Source:MGI Symbol;Acc:MGI:99499]|Heterozygous|Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life.|T|C|67|40.0|Splice|Line Propagating
1540738|IGL00697|X|130460940|Disrupted splicing||N/A|MGI:1858500|Diap2|diaphanous homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1858500]|Heterozygous||C|T|48|37.5|Splice|Line Propagating
1540739|IGL00697|1|55061265|Disrupted splicing||N/A|MGI:1915126|Coq10b|coenzyme Q10 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915126]|Heterozygous||T|A|20|39.0|Splice|Line Propagating
1542236|IGL00700|19|40180453|V->A|0.01|Benign|MGI:2385878|Cyp2c70|cytochrome P450, family 2, subfamily c, polypeptide 70 [Source:MGI Symbol;Acc:MGI:2385878]|Heterozygous||A|G|44|37.0|Non-synonymous|Line Propagating
1542237|IGL00700|X|113116257|T->M|0.02|Benign|MGI:892979|Chm|choroidermia [Source:MGI Symbol;Acc:MGI:892979]|Heterozygous|For one disruption of this gene, heterozygous female and hemizygous male null mice display embryonic lethality with abnormal extraembryonic tissue development. For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina.|G|A|44|40.0|Non-synonymous|Line Propagating
1542238|IGL00700|14|103139453|I->M||Benign|MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|A|C|34|40.0|Non-synonymous|Line Propagating
1542239|IGL00700|15|9676489|N->K|0.83|Possibly damaging|MGI:2443727|Spef2|sperm flagellar 2 [Source:MGI Symbol;Acc:MGI:2443727]|Heterozygous||A|T|20|41.0|Non-synonymous|Line Propagating
1542240|IGL00700|7|13357090|Q->Stop||N/A|MGI:1196403|Pla2g4c|phospholipase A2, group IVC (cytosolic, calcium-independent) [Source:MGI Symbol;Acc:MGI:1196403]|Heterozygous||C|T|19|40.0|Non-synonymous|Line Propagating
1542241|IGL00700|3|27146835|Disrupted splicing||N/A|MGI:95281|Ect2|ect2 oncogene [Source:MGI Symbol;Acc:MGI:95281]|Heterozygous|Homozygous disruption of this locus is embryonic lethal.|A|T|60|41.0|Splice|Line Propagating
1542242|IGL00700|2|150588901|Disrupted splicing||N/A|MGI:1919131|2310001a20rik|RIKEN cDNA 2310001A20 gene [Source:MGI Symbol;Acc:MGI:1919131]|Heterozygous||A|G|32|40.0|Splice|Line Propagating
1543051|IGL00702|5|87125219|N->K||Benign|MGI:98900|Ugt2b5|UDP glucuronosyltransferase 2 family, polypeptide B5 [Source:MGI Symbol;Acc:MGI:98900]|Heterozygous||A|T|135|39.0|Non-synonymous|Line Propagating
1543052|IGL00702|14|20528250|V->A||Benign|MGI:107163|Ppp3cb|protein phosphatase 3, catalytic subunit, beta isoform [Source:MGI Symbol;Acc:MGI:107163]|Heterozygous|Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells.|A|G|107|37.0|Non-synonymous|Line Propagating
1543053|IGL00702|9|53511831|V->A|0.07|Benign|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|A|G|107|40.0|Non-synonymous|Line Propagating
1543054|IGL00702|4|59596892|K->R|0.09|Benign|MGI:1919729|Hsdl2|hydroxysteroid dehydrogenase like 2 [Source:MGI Symbol;Acc:MGI:1919729]|Heterozygous||A|G|43|39.0|Non-synonymous|Line Propagating
1543055|IGL00702|4|19605421|S->N|0.55|Possibly damaging|MGI:1913552|Fam82b|family with sequence similarity 82, member B [Source:MGI Symbol;Acc:MGI:1913552]|Heterozygous||G|A|42|40.0|Non-synonymous|Line Propagating
1543056|IGL00702|11|99519063|Q->P|0.92|Possibly damaging|MGI:3588208|Krt39|keratin 39 [Source:MGI Symbol;Acc:MGI:3588208]|Heterozygous||T|G|41|39.0|Non-synonymous|Line Propagating
1543057|IGL00702|10|33913072|N->Y|0.78|Possibly damaging|MGI:3027894|Rsph4a|radial spoke head 4 homolog A (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:3027894]|Heterozygous||A|T|28|40.0|Non-synonymous|Line Propagating
1543058|IGL00702|2|69708545|V->I|0.94|Possibly damaging|MGI:2444596|Fastkd1|FAST kinase domains 1 [Source:MGI Symbol;Acc:MGI:2444596]|Heterozygous||C|T|17|40.0|Non-synonymous|Line Propagating
1543059|IGL00702|15|7185739|Disrupted splicing||N/A|MGI:96788|Lifr|leukemia inhibitory factor receptor [Source:MGI Symbol;Acc:MGI:96788]|Heterozygous|Homozygotes for targeted null mutations die as neonates with reduced numbers of facial and spinal motor neurons, neurons of the nucleus ambiguus, and astrocytes. Mutants also show impaired placentation, severe osteopenia, and low hepatic glycogen stores.|T|C|16|37.0|Splice|Line Propagating
1543578|IGL00703|8|43520179|D->E|1.0|Probably damaging|MGI:3588304|Adam26b|a disintegrin and metallopeptidase domain 26B [Source:MGI Symbol;Acc:MGI:3588304]|Heterozygous||A|T|123|40.0|Non-synonymous|Line Propagating
1543579|IGL00703|14|76504828|R->G|0.83|Possibly damaging|MGI:109127|Tsc22d1|TSC22 domain family, member 1 [Source:MGI Symbol;Acc:MGI:109127]|Heterozygous|Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights.|A|G|76|39.0|Non-synonymous|Line Propagating
1543580|IGL00703|6|14718408|T->A|0.04|Benign|MGI:2153588|Ppp1r3a|protein phosphatase 1, regulatory (inhibitor) subunit 3A [Source:MGI Symbol;Acc:MGI:2153588]|Heterozygous|Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity.|T|C|62|39.0|Non-synonymous|Line Propagating
1543581|IGL00703|5|87008192|Y->F|0.13|Benign|MGI:3576100|Ugt2b35|UDP glucuronosyltransferase 2 family, polypeptide B35 [Source:MGI Symbol;Acc:MGI:3576100]|Heterozygous||A|T|58|39.0|Non-synonymous|Line Propagating
1543582|IGL00703|14|38370801|D->V|0.85|Possibly damaging|MGI:1097165|Nrg3|neuregulin 3 [Source:MGI Symbol;Acc:MGI:1097165]|Heterozygous|Mutations in this gene result in abnormal, genetic background specific, mammary gland development.|T|A|57|38.0|Non-synonymous|Line Propagating
1543583|IGL00703|13|113045513|N->D|0.5|Possibly damaging|MGI:1916840|Gpx8|glutathione peroxidase 8 (putative) [Source:MGI Symbol;Acc:MGI:1916840]|Heterozygous||T|C|52|39.0|Non-synonymous|Line Propagating
1543584|IGL00703|8|26125918|N->S|0.18|Benign|MGI:1924983|Rnf170|ring finger protein 170 [Source:MGI Symbol;Acc:MGI:1924983]|Heterozygous||A|G|50|40.0|Non-synonymous|Line Propagating
1543585|IGL00703|13|102770767|E->Stop||N/A|MGI:1918885|Mast4|microtubule associated serine/threonine kinase family member 4 [Source:MGI Symbol;Acc:MGI:1918885]|Heterozygous||C|A|42|39.5|Non-synonymous|Line Propagating
1543586|IGL00703|16|36757791|I->V||Benign|MGI:1890457|Slc15a2|solute carrier family 15 (H+/peptide transporter), member 2 [Source:MGI Symbol;Acc:MGI:1890457]|Heterozygous|Homozygous mutant mice have impairments of dipeptide transportion, however, show no gross defects.|T|C|33|41.0|Non-synonymous|Line Propagating
1543587|IGL00703|6|124914956|K->E||Unknown|MGI:1916452|Ptms|parathymosin [Source:MGI Symbol;Acc:MGI:1916452]|Heterozygous||T|C|33|37.0|Non-synonymous|Line Propagating
1543588|IGL00703|1|74423960|L->P|0.9|Possibly damaging|MGI:98930|Vil1|villin 1 [Source:MGI Symbol;Acc:MGI:98930]|Heterozygous|Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed.|T|C|27|38.0|Non-synonymous|Line Propagating
1543589|IGL00703|4|25280631|V->A||Benign|MGI:1914740|1810074p20rik|RIKEN cDNA 1810074P20 gene [Source:MGI Symbol;Acc:MGI:1914740]|Heterozygous||A|G|23|38.0|Non-synonymous|Line Propagating
1543590|IGL00703|15|66696489|V->I|0.06|Benign|MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|G|A|22|40.0|Non-synonymous|Line Propagating
1543591|IGL00703|6|141655352|T->S|1.0|Probably damaging|MGI:1351899|Slco1b2|solute carrier organic anion transporter family, member 1b2 [Source:MGI Symbol;Acc:MGI:1351899]|Heterozygous|Mice homozygous for a null mutation display slight abnormalities in blood chemistry and are resistant to injury induced by some classes of hepatotoxins.|A|T|19|40.0|Non-synonymous|Line Propagating
1543592|IGL00703|12|105592355|V->A||Benign|MGI:102845|Bdkrb2|bradykinin receptor, beta 2 [Source:MGI Symbol;Acc:MGI:102845]|Heterozygous|Homozygous null mutants are indistinguishable from normal littermates, but bradykinin response is eliminated in ileum, uterus, and cervical ganglia.|T|C|16|35.0|Non-synonymous|Line Propagating
1543593|IGL00703|3|116927391|Disrupted splicing||N/A|MGI:2148896|Palmd|palmdelphin [Source:MGI Symbol;Acc:MGI:2148896]|Heterozygous||A|G|113|40.0|Splice|Line Propagating
1543594|IGL00703|10|88525108|Disrupted splicing||N/A|MGI:1336213|Mybpc1|myosin binding protein C, slow-type [Source:MGI Symbol;Acc:MGI:1336213]|Heterozygous||T|C|85|40.0|Splice|Line Propagating
1543595|IGL00703|1|131255302|Disrupted splicing||N/A|MGI:1929612|Ikbke|inhibitor of kappaB kinase epsilon [Source:MGI Symbol;Acc:MGI:1929612]|Heterozygous|Homozygous null mice are viable and fertile.|A|T|56|39.0|Splice|Line Propagating
1543596|IGL00703|3|95232545|Disrupted splicing||N/A|MGI:1889510|Cdc42se1|CDC42 small effector 1 [Source:MGI Symbol;Acc:MGI:1889510]|Heterozygous||A|G|28|38.0|Splice|Line Propagating
1543597|IGL00703|13|106953430|Disrupted splicing||N/A|MGI:1913504|Dimt1|DIM1 dimethyladenosine transferase 1-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913504]|Heterozygous||T|C|21|40.0|Splice|Line Propagating
1547227|IGL00710|15|53344873|D->G|1.0|Probably damaging|MGI:894663|Ext1|exostoses (multiple) 1 [Source:MGI Symbol;Acc:MGI:894663]|Heterozygous|Mice homozygous for disruptions in this gene display a lethal phenotype.|T|C|77|39.0|Non-synonymous|Line Propagating
1547228|IGL00710|5|86906589|Y->C|0.97|Probably damaging|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||T|C|48|40.0|Non-synonymous|Line Propagating
1547229|IGL00710|17|74609089|T->A|0.97|Probably damaging|MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|A|G|33|39.0|Non-synonymous|Line Propagating
1547230|IGL00710|2|124662288|K->R||Benign|MGI:2387661|Sema6d|sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D [Source:MGI Symbol;Acc:MGI:2387661]|Heterozygous||A|G|33|40.0|Non-synonymous|Line Propagating
1547231|IGL00710|9|59875311|Y->C|0.98|Probably damaging|MGI:107735|Myo9a|myosin IXa [Source:MGI Symbol;Acc:MGI:107735]|Heterozygous||A|G|29|39.0|Non-synonymous|Line Propagating
1547232|IGL00710|6|124732356|D->E|0.02|Benign|MGI:96055|Ptpn6|protein tyrosine phosphatase, non-receptor type 6 [Source:MGI Symbol;Acc:MGI:96055]|Heterozygous|Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis.|A|T|19|37.0|Non-synonymous|Line Propagating
1547233|IGL00710|7|80893663|I->S||Benign|MGI:1919218|Wdr73|WD repeat domain 73 [Source:MGI Symbol;Acc:MGI:1919218]|Heterozygous||A|C|17|39.0|Non-synonymous|Line Propagating
1549620|IGL00715|4|98934581|S->P||Benign|MGI:2385198|Usp1|ubiquitin specific peptidase 1 [Source:MGI Symbol;Acc:MGI:2385198]|Heterozygous|Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells.|T|C|71|40.0|Non-synonymous|Line Propagating
1549621|IGL00715|1|125395076|A->T|0.05|Benign|MGI:1921367|Actr3|ARP3 actin-related protein 3 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1921367]|Heterozygous|Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis.|C|T|67|40.0|Non-synonymous|Line Propagating
1549622|IGL00715|12|72652390|M->L|0.01|Benign|MGI:1913625|Dhrs7|dehydrogenase/reductase (SDR family) member 7 [Source:MGI Symbol;Acc:MGI:1913625]|Heterozygous||T|A|65|36.0|Non-synonymous|Line Propagating
1549623|IGL00715|X|21084254|D->G|1.0|Probably damaging|MGI:3045326|Zfp300|zinc finger protein 300 [Source:MGI Symbol;Acc:MGI:3045326]|Heterozygous||T|C|57|40.0|Non-synonymous|Line Propagating
1549624|IGL00715|3|72934124|I->T|0.95|Probably damaging|MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||A|G|54|40.0|Non-synonymous|Line Propagating
1549625|IGL00715|1|162888713|K->Stop||N/A|MGI:1916776|Fmo2|flavin containing monooxygenase 2 [Source:MGI Symbol;Acc:MGI:1916776]|Heterozygous||T|A|52|40.0|Non-synonymous|Line Propagating
1549626|IGL00715|X|107102583|S->R|1.0|Probably damaging|MGI:1926076|P2ry10|purinergic receptor P2Y, G-protein coupled 10 [Source:MGI Symbol;Acc:MGI:1926076]|Heterozygous||T|A|50|37.5|Non-synonymous|Line Propagating
1549627|IGL00715|13|33931512|F->S|0.66|Possibly damaging|MGI:103123|Serpinb6a|serine (or cysteine) peptidase inhibitor, clade B, member 6a [Source:MGI Symbol;Acc:MGI:103123]|Heterozygous|Mice homozygous for a reporter allele are viable, fertile and developmentally normal, with no apparent alterations in growth, leukocyte function, or sensitivity to cerebral ischemia.|A|G|46|40.0|Non-synonymous|Line Propagating
1549628|IGL00715|9|92598614|R->H|1.0|Probably damaging|MGI:1347007|Plod2|procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 [Source:MGI Symbol;Acc:MGI:1347007]|Heterozygous||G|A|43|40.0|Non-synonymous|Line Propagating
1549629|IGL00715|18|36785936|C->Y|0.15|Benign|MGI:1918041|Hars2|histidyl-tRNA synthetase 2, mitochondrial (putative) [Source:MGI Symbol;Acc:MGI:1918041]|Heterozygous||G|A|41|39.0|Non-synonymous|Line Propagating
1549630|IGL00715|11|70639918|N->T|0.02|Benign|MGI:1333744|Gp1ba|glycoprotein 1b, alpha polypeptide [Source:MGI Symbol;Acc:MGI:1333744]|Heterozygous|Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets.|A|C|34|38.5|Non-synonymous|Line Propagating
1549631|IGL00715|3|104463948|V->A|1.0|Probably damaging|MGI:2443718|Lrig2|leucine-rich repeats and immunoglobulin-like domains 2 [Source:MGI Symbol;Acc:MGI:2443718]|Heterozygous||A|G|34|39.0|Non-synonymous|Line Propagating
1549632|IGL00715|X|139334234|D->G||Unknown|MGI:98818|Trap1a|tumor rejection antigen P1A [Source:MGI Symbol;Acc:MGI:98818]|Heterozygous|Tumor rejection antigens to mouse mastocytoma P815 were identified and transfectants expressing tumor rejection antigens in vitro obtained. The gene coding for the antigens is identical with the gene present in normal cells. This gene, Trap1a, has little/no expression in non-tumor cells.|A|G|31|38.0|Non-synonymous|Line Propagating
1549633|IGL00715|7|45830613|Y->H|1.0|Probably damaging|MGI:2141989|Grwd1|glutamate-rich WD repeat containing 1 [Source:MGI Symbol;Acc:MGI:2141989]|Heterozygous||A|G|25|35.0|Non-synonymous|Line Propagating
1549634|IGL00715|14|30596003|N->S|1.0|Probably damaging|MGI:97598|Prkcd|protein kinase C, delta [Source:MGI Symbol;Acc:MGI:97598]|Heterozygous|Mice homozygous for a null allele exhibit decreased neutrophil cell numbers and activity, increased B cell numbers and proliferation, increased acute inflammation, and increased IgG1 and IgA serum levels.|T|C|24|39.0|Non-synonymous|Line Propagating
1549635|IGL00715|7|123250174|A->V|0.86|Possibly damaging|MGI:1919316|Slc5a11|solute carrier family 5 (sodium/glucose cotransporter), member 11 [Source:MGI Symbol;Acc:MGI:1919316]|Heterozygous||C|T|22|41.0|Non-synonymous|Line Propagating
1549636|IGL00715|12|99196607|E->G|1.0|Probably damaging|MGI:1918625|Foxn3|forkhead box N3 [Source:MGI Symbol;Acc:MGI:1918625]|Heterozygous||T|C|20|37.5|Non-synonymous|Line Propagating
1549637|IGL00715|17|27083629|V->A||Benign|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|T|C|20|37.5|Non-synonymous|Line Propagating
1549638|IGL00715|7|35794712|E->G|0.81|Possibly damaging|MGI:1916378|Zfp507|zinc finger protein 507 [Source:MGI Symbol;Acc:MGI:1916378]|Heterozygous||T|C|20|39.0|Non-synonymous|Line Propagating
1549639|IGL00715|2|118713734|Disrupted splicing||N/A|MGI:107465|Plcb2|phospholipase C, beta 2 [Source:MGI Symbol;Acc:MGI:107465]|Heterozygous|Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed.|C|T|43|39.0|Splice|Line Propagating
1549640|IGL00715|11|101183205|Disrupted splicing||N/A|MGI:1858201|Cntnap1|contactin associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1858201]|Heterozygous|Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and and ataxia.|C|T|41|36.0|Splice|Line Propagating
1549641|IGL00715|4|11797780|Disrupted splicing||N/A|MGI:1095414|Cdh17|cadherin 17 [Source:MGI Symbol;Acc:MGI:1095414]|Heterozygous|Homozygous mutant mice exhibit impaired B lymphocyte development and impaired IgG1 and IgG3 antibody response to T-independent antigen.|A|T|39|40.0|Splice|Line Propagating
1549642|IGL00715|6|106712474|Disrupted splicing||N/A|MGI:96558|Il5ra|interleukin 5 receptor, alpha [Source:MGI Symbol;Acc:MGI:96558]|Heterozygous|Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies.|C|T|38|40.5|Splice|Line Propagating
1549643|IGL00715|2|172989032|Disrupted splicing||N/A|MGI:1349669|Spo11|sporulation protein, meiosis-specific, SPO11 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1349669]|Heterozygous|Homozygotes for a targeted null mutation are sterile. Mutant males exhibit loss of spermatocytes in early prophase, while mutant females exhibit oocyte loss soon after birth.|T|C|23|39.0|Splice|Line Propagating
1549644|IGL00715|5|70815955|Disrupted splicing||N/A|MGI:103156|Gabrg1|gamma-aminobutyric acid (GABA) A receptor, subunit gamma 1 [Source:MGI Symbol;Acc:MGI:103156]|Heterozygous||A|G|23|40.0|Splice|Line Propagating
1549645|IGL00715|16|90753321|Disrupted splicing||N/A|MGI:2146468|Urb1|URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]|Heterozygous||A|G|17|39.0|Splice|Line Propagating
1551164|IGL00718|3|123371339|I->M|0.96|Probably damaging|MGI:2442926|Mettl14|methyltransferase like 14 [Source:MGI Symbol;Acc:MGI:2442926]|Heterozygous||T|C|208|41.0|Non-synonymous|Line Propagating
1551165|IGL00718|4|15933056|D->Y|0.08|Benign|MGI:1914710|Decr1|2,4-dienoyl CoA reductase 1, mitochondrial [Source:MGI Symbol;Acc:MGI:1914710]|Heterozygous|Mice homozygous for a null allele exhibit increased sensitivity to fasting and cold stresses.|C|A|99|40.0|Non-synonymous|Line Propagating
1551166|IGL00718|19|11557971|N->I|0.98|Probably damaging|MGI:1913857|Ms4a4d|membrane-spanning 4-domains, subfamily A, member 4D [Source:MGI Symbol;Acc:MGI:1913857]|Heterozygous||A|T|87|40.0|Non-synonymous|Line Propagating
1551167|IGL00718|18|37444821|Y->H|1.0|Probably damaging|MGI:2136748|Pcdhb13|protocadherin beta 13 [Source:MGI Symbol;Acc:MGI:2136748]|Heterozygous||T|C|50|38.0|Non-synonymous|Line Propagating
1551168|IGL00718|14|65931427|T->I|1.0|Probably damaging|MGI:2444418|Scara3|scavenger receptor class A, member 3 [Source:MGI Symbol;Acc:MGI:2444418]|Heterozygous||G|A|49|37.0|Non-synonymous|Line Propagating
1551169|IGL00718|8|25706534|V->A|0.56|Possibly damaging|MGI:2142581|Whsc1l1|Wolf-Hirschhorn syndrome candidate 1-like 1 (human) [Source:MGI Symbol;Acc:MGI:2142581]|Heterozygous||T|C|49|39.0|Non-synonymous|Line Propagating
1551170|IGL00718|7|79444174|K->R|0.97|Probably damaging|MGI:2384790|Fanci|Fanconi anemia, complementation group I [Source:MGI Symbol;Acc:MGI:2384790]|Heterozygous||A|G|45|40.0|Non-synonymous|Line Propagating
1551171|IGL00718|6|121040449|H->Q|0.51|Possibly damaging|MGI:2442733|Mical3|microtubule associated monoxygenase, calponin and LIM domain containing 3 [Source:MGI Symbol;Acc:MGI:2442733]|Heterozygous||G|T|42|39.0|Non-synonymous|Line Propagating
1551172|IGL00718|4|106409704|S->P|0.6|Possibly damaging|MGI:1919936|Usp24|ubiquitin specific peptidase 24 [Source:MGI Symbol;Acc:MGI:1919936]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
1551173|IGL00718|8|107042626|N->S||Benign|MGI:1890520|Vps4a|vacuolar protein sorting 4a (yeast) [Source:MGI Symbol;Acc:MGI:1890520]|Heterozygous||A|G|35|39.0|Non-synonymous|Line Propagating
1551174|IGL00718|12|103169647|V->A|0.03|Benign|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|C|30|37.0|Non-synonymous|Line Propagating
1551175|IGL00718|17|83448184|I->V||Benign|MGI:1926048|Eml4|echinoderm microtubule associated protein like 4 [Source:MGI Symbol;Acc:MGI:1926048]|Heterozygous||A|G|30|41.0|Non-synonymous|Line Propagating
1551176|IGL00718|9|30432326|L->Q|1.0|Probably damaging|MGI:1921581|Snx19|sorting nexin 19 [Source:MGI Symbol;Acc:MGI:1921581]|Heterozygous||T|A|30|36.0|Non-synonymous|Line Propagating
1551177|IGL00718|2|25892407|T->M|1.0|Probably damaging|MGI:1924627|Kcnt1|potassium channel, subfamily T, member 1 [Source:MGI Symbol;Acc:MGI:1924627]|Heterozygous||C|T|25|35.0|Non-synonymous|Line Propagating
1551178|IGL00718|4|134234701|E->G|0.1|Benign|MGI:2670958|Cnksr1|connector enhancer of kinase suppressor of Ras 1 [Source:MGI Symbol;Acc:MGI:2670958]|Heterozygous||T|C|19|35.0|Non-synonymous|Line Propagating
1551179|IGL00718|9|106713455|T->A|1.0|Probably damaging|MGI:1933196|Rad54l2|RAD54 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1933196]|Heterozygous|Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis.|T|C|18|34.5|Non-synonymous|Line Propagating
1551180|IGL00718|4|35213015|L->H|1.0|Probably damaging|MGI:1920455|3110043o21rik|RIKEN cDNA 3110043O21 gene [Source:MGI Symbol;Acc:MGI:1920455]|Heterozygous||A|T|16|37.0|Non-synonymous|Line Propagating
1551181|IGL00718|11|98249676|Disrupted splicing||N/A|MGI:1098802|Cdk12|cyclin-dependent kinase 12 [Source:MGI Symbol;Acc:MGI:1098802]|Heterozygous||T|C|41|39.0|Splice|Line Propagating
1551182|IGL00718|3|87813674|Disrupted splicing||N/A|MGI:1346037|Insrr|insulin receptor-related receptor [Source:MGI Symbol;Acc:MGI:1346037]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no anomalies in pancreatic islet morphology, beta-cell mass or pancreatic secretory function. This mutation in combination with Insr mutant mice does not affect the diabetes predisposition of Insr mutant mice.|G|T|34|39.0|Splice|Line Propagating
1554770|IGL00726|15|103242437|D->G||Unknown|MGI:104820|Hnrnpa1|heterogeneous nuclear ribonucleoprotein A1 [Source:MGI Symbol;Acc:MGI:104820]|Heterozygous||A|G|83|34.0|Non-synonymous|Line Propagating
1554771|IGL00726|2|76734725|D->A|0.99|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|G|54|37.0|Non-synonymous|Line Propagating
1554772|IGL00726|4|136010765|K->E|0.15|Benign|MGI:1351315|Tceb3|transcription elongation factor B (SIII), polypeptide 3 [Source:MGI Symbol;Acc:MGI:1351315]|Heterozygous|Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects.|T|C|38|38.5|Non-synonymous|Line Propagating
1554773|IGL00726|6|14717852|V->A|0.45|Possibly damaging|MGI:2153588|Ppp1r3a|protein phosphatase 1, regulatory (inhibitor) subunit 3A [Source:MGI Symbol;Acc:MGI:2153588]|Heterozygous|Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity.|A|G|36|37.0|Non-synonymous|Line Propagating
1554774|IGL00726|1|166630392|F->Y|0.11|Benign|MGI:3643320|Gm4847|predicted gene 4847 [Source:MGI Symbol;Acc:MGI:3643320]|Heterozygous||A|T|32|35.0|Non-synonymous|Line Propagating
1554775|IGL00726|3|28532898|E->G|1.0|Probably damaging|MGI:1916264|Tnik|TRAF2 and NCK interacting kinase [Source:MGI Symbol;Acc:MGI:1916264]|Heterozygous||A|G|28|37.0|Non-synonymous|Line Propagating
1554776|IGL00726|5|21480342|N->K|1.0|Probably damaging|MGI:2140983|Fam185a|family with sequence similarity 185, member A [Source:MGI Symbol;Acc:MGI:2140983]|Heterozygous||T|A|27|38.0|Non-synonymous|Line Propagating
1554777|IGL00726|8|123258337|S->P|0.04|Benign|MGI:1888495|Zfp276|zinc finger protein (C2H2 type) 276 [Source:MGI Symbol;Acc:MGI:1888495]|Heterozygous||T|C|21|35.0|Non-synonymous|Line Propagating
1554778|IGL00726|17|46528096|N->I|1.0|Probably damaging|MGI:1925559|Cul9|cullin 9 [Source:MGI Symbol;Acc:MGI:1925559]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis.|T|A|16|30.0|Non-synonymous|Line Propagating
1554779|IGL00726|6|106738489|N->I|1.0|Probably damaging|MGI:96558|Il5ra|interleukin 5 receptor, alpha [Source:MGI Symbol;Acc:MGI:96558]|Heterozygous|Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies.|T|A|16|38.0|Non-synonymous|Line Propagating
1554780|IGL00726|12|40790068|Disrupted splicing||N/A|MGI:1918006|Dock4|dedicator of cytokinesis 4 [Source:MGI Symbol;Acc:MGI:1918006]|Heterozygous||T|A|50|35.0|Splice|Line Propagating
1554781|IGL00726|1|150806366|Disrupted splicing||N/A|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||A|G|16|38.0|Splice|Line Propagating
1555209|IGL00727|10|108230473|R->Q|0.95|Possibly damaging|MGI:1309528|Ppp1r12a|protein phosphatase 1, regulatory (inhibitor) subunit 12A [Source:MGI Symbol;Acc:MGI:1309528]|Heterozygous|Homozygous null mice die before E7.5.|G|A|46|35.0|Non-synonymous|Line Propagating
1555211|IGL00727|13|81524684|Y->F|0.15|Benign|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|A|26|35.5|Non-synonymous|Line Propagating
1555212|IGL00727|6|129831509|Y->H|0.14|Benign|MGI:2180674|Klra17|killer cell lectin-like receptor, subfamily A, member 17 [Source:MGI Symbol;Acc:MGI:2180674]|Heterozygous|Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function.|A|G|26|37.0|Non-synonymous|Line Propagating
1555213|IGL00727|7|6066702|E->G|0.88|Possibly damaging|MGI:1890518|Nlrp4c|NLR family, pyrin domain containing 4C [Source:MGI Symbol;Acc:MGI:1890518]|Heterozygous||A|G|26|36.5|Non-synonymous|Line Propagating
1555214|IGL00727|8|25641158|S->P|1.0|Probably damaging|MGI:2142581|Whsc1l1|Wolf-Hirschhorn syndrome candidate 1-like 1 (human) [Source:MGI Symbol;Acc:MGI:2142581]|Heterozygous||T|C|26|37.0|Non-synonymous|Line Propagating
1555216|IGL00727|12|50364661|R->H|0.99|Probably damaging|MGI:99879|Prkd1|protein kinase D1 [Source:MGI Symbol;Acc:MGI:99879]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality.|C|T|20|35.0|Non-synonymous|Line Propagating
1555217|IGL00727|3|92824427|S->T|0.65|Possibly damaging|MGI:1920981|Kprp|keratinocyte expressed, proline-rich [Source:MGI Symbol;Acc:MGI:1920981]|Heterozygous||A|T|20|35.0|Non-synonymous|Line Propagating
1555218|IGL00727|4|128745844|V->G|1.0|Probably damaging|MGI:1860454|Phc2|polyhomeotic-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1860454]|Heterozygous|Mice homozygous for a knock-out allele have normal skulls but exhibit posterior homeotic transformations of the axial skeleton. Cultured mouse embryonic fibroblasts show defects in proliferation and premature senescence.|T|G|18|34.0|Non-synonymous|Line Propagating
1555219|IGL00727|6|149006716|Disrupted splicing||N/A|MGI:2444273|Dennd5b|DENN/MADD domain containing 5B [Source:MGI Symbol;Acc:MGI:2444273]|Heterozygous||G|T|51|37.0|Splice|Line Propagating
1555220|IGL00727|3|158063871|Disrupted splicing||N/A|MGI:1914394|Lrrc40|leucine rich repeat containing 40 [Source:MGI Symbol;Acc:MGI:1914394]|Heterozygous||T|C|21|35.0|Splice|Line Propagating
1561097|IGL00736|15|85129700|E->G|0.11|Benign|MGI:2154049|Smc1b|structural maintenance of chromosomes 1B [Source:MGI Symbol;Acc:MGI:2154049]|Heterozygous|Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis.|T|C|149|37.0|Non-synonymous|Line Propagating
1561098|IGL00736|17|65864723|Y->C|1.0|Probably damaging|MGI:108466|Ralbp1|ralA binding protein 1 [Source:MGI Symbol;Acc:MGI:108466]|Heterozygous|Homozygous and heterozygous null mice display increased sensitivity to X-ray irradiation, increased oxidative stress, and impaired glutathione homeostasis.|T|C|142|37.0|Non-synonymous|Line Propagating
1561099|IGL00736|14|56903211|V->A||Benign|MGI:1923257|Zmym2|zinc finger, MYM-type 2 [Source:MGI Symbol;Acc:MGI:1923257]|Heterozygous||T|C|92|36.5|Non-synonymous|Line Propagating
1561100|IGL00736|18|57292710|R->Q|0.36|Benign|MGI:2685177|Megf10|multiple EGF-like-domains 10 [Source:MGI Symbol;Acc:MGI:2685177]|Heterozygous||G|A|62|35.0|Non-synonymous|Line Propagating
1561101|IGL00736|15|81407573|I->F|0.91|Possibly damaging|MGI:2445217, MGI:1914012|Xpnpep3,dnajb7|DnaJ (Hsp40) homolog, subfamily B, member 7 [Source:MGI Symbol;Acc:MGI:1914012],X-prolyl aminopeptidase (aminopeptidase P) 3, putative [Source:MGI Symbol;Acc:MGI:2445217]|Heterozygous||T|A|44|38.5|Non-synonymous|Line Propagating
1561102|IGL00736|5|105607114|V->M|1.0|Probably damaging|MGI:2140839|Lrrc8c|leucine rich repeat containing 8 family, member C [Source:MGI Symbol;Acc:MGI:2140839]|Heterozygous||G|A|42|36.0|Non-synonymous|Line Propagating
1561103|IGL00736|19|7790162|Q->R|0.62|Possibly damaging|MGI:2385316|Bc014805|cDNA sequence BC014805 [Source:MGI Symbol;Acc:MGI:2385316]|Heterozygous||T|C|37|38.0|Non-synonymous|Line Propagating
1561104|IGL00736|3|75267809|M->I|1.0|Probably damaging|MGI:1915181|Serpini2|serine (or cysteine) peptidase inhibitor, clade I, member 2 [Source:MGI Symbol;Acc:MGI:1915181]|Heterozygous||C|T|36|37.0|Non-synonymous|Line Propagating
1561105|IGL00736|9|63139538|Q->H|1.0|Probably damaging|MGI:2443473|Skor1|SKI family transcriptional corepressor 1 [Source:MGI Symbol;Acc:MGI:2443473]|Heterozygous||C|A|27|35.0|Non-synonymous|Line Propagating
1561106|IGL00736|10|77322490|L->P|1.0|Probably damaging|MGI:891999|Adarb1|adenosine deaminase, RNA-specific, B1 [Source:MGI Symbol;Acc:MGI:891999]|Heterozygous|Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death.|A|G|22|31.0|Non-synonymous|Line Propagating
1561107|IGL00736|7|29312908|K->Stop||N/A|MGI:1352748|Dpf1|D4, zinc and double PHD fingers family 1 [Source:MGI Symbol;Acc:MGI:1352748]|Heterozygous||A|T|22|33.0|Non-synonymous|Line Propagating
1561108|IGL00736|12|78884837|L->Q||Unknown|MGI:95299|Eif2s1|eukaryotic translation initiation factor 2, subunit 1 alpha [Source:MGI Symbol;Acc:MGI:95299]|Heterozygous|Mice homozygous for a knocked-in point mutation die within hours of birth and exhibit hypoglycemia.|T|A|21|36.0|Non-synonymous|Line Propagating
1561109|IGL00736|7|118698702|E->G|1.0|Probably damaging|MGI:1891827|Gde1|glycerophosphodiester phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:1891827]|Heterozygous||T|C|20|37.0|Non-synonymous|Line Propagating
1561110|IGL00736|5|135240032|Y->C|1.0|Probably damaging|MGI:1353499|Baz1b|bromodomain adjacent to zinc finger domain, 1B [Source:MGI Symbol;Acc:MGI:1353499]|Heterozygous|Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects.|A|G|17|35.0|Non-synonymous|Line Propagating
1561111|IGL00736|15|12833959|Y->N||Unknown|MGI:1261425|Drosha|drosha, ribonuclease type III [Source:MGI Symbol;Acc:MGI:1261425]|Heterozygous||T|A|16|35.0|Non-synonymous|Line Propagating
1561112|IGL00736|2|70105645|Disrupted splicing||N/A|MGI:2448580|Myo3b|myosin IIIB [Source:MGI Symbol;Acc:MGI:2448580]|Heterozygous||A|C|24|35.0|Splice|Line Propagating
1755171|IGL00767|8|60896802|I->V||Benign|MGI:1919862|2700029m09rik|RIKEN cDNA 2700029M09 gene [Source:MGI Symbol;Acc:MGI:1919862]|Heterozygous||A|G|105|39.0|Non-synonymous|Line Propagating
1755172|IGL00767|4|16006377|H->Y|0.9|Possibly damaging|MGI:2384798|Osgin2|oxidative stress induced growth inhibitor family member 2 [Source:MGI Symbol;Acc:MGI:2384798]|Heterozygous||G|A|49|40.0|Non-synonymous|Line Propagating
1755173|IGL00767|1|107536077|V->F|0.8|Possibly damaging|MGI:3026891, MGI:3531331, MGI:3511869, MGI:2387105, MGI:3526906, MGI:3042876, MGI:2138648, MGI:3042878, MGI:3046813, MGI:2681004, MGI:3583100|Serpinb10-ps|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10, pseudogene [Source:MGI Symbol;Acc:MGI:2138648]|Heterozygous||G|T|38|40.0|Non-synonymous|Line Propagating
1755174|IGL00767|17|24106861|K->N|0.15|Benign|MGI:1338068|Pdpk1|3-phosphoinositide dependent protein kinase 1 [Source:MGI Symbol;Acc:MGI:1338068]|Heterozygous|Homozygous mutant mice exhibit embryogenesis defects, impaired forebrain development, and die by mid gestation. Cardiac muscle-specific conditional mutants exhibit thin ventricular walls and die of heart failure.|T|G|37|37.0|Non-synonymous|Line Propagating
1755175|IGL00767|18|44276318|T->A||Benign|MGI:1098590|Npy6r|neuropeptide Y receptor Y6 [Source:MGI Symbol;Acc:MGI:1098590]|Heterozygous||A|G|36|35.5|Non-synonymous|Line Propagating
1755176|IGL00767|2|69175775|T->A|0.84|Possibly damaging|MGI:3606242|Nostrin|nitric oxide synthase trafficker [Source:MGI Symbol;Acc:MGI:3606242]|Heterozygous||A|G|30|37.5|Non-synonymous|Line Propagating
1755177|IGL00767|7|79840890|S->A||Benign|MGI:5000466|Anpep|alanyl (membrane) aminopeptidase [Source:MGI Symbol;Acc:MGI:96749]|Heterozygous||A|C|25|37.0|Non-synonymous|Line Propagating
1755178|IGL00767|2|120745745|V->A||Benign|MGI:2155779|Ttbk2|tau tubulin kinase 2 [Source:MGI Symbol;Acc:MGI:2155779]|Heterozygous|Mice homozygous for a knock-in allele exhibit complete preweaning lethality, decreased embryo size, growth retardation, and incomplete turning.|A|G|18|30.0|Non-synonymous|Line Propagating
1755179|IGL00767|6|71903448|I->K|0.57|Possibly damaging|MGI:1917206|Ptcd3|pentatricopeptide repeat domain 3 [Source:MGI Symbol;Acc:MGI:1917206]|Heterozygous||A|T|18|37.0|Non-synonymous|Line Propagating
1755180|IGL00767|8|64071321|R->C|1.0|Probably damaging|MGI:106923|Tll1|tolloid-like [Source:MGI Symbol;Acc:MGI:106923]|Heterozygous|Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.|G|A|18|36.5|Non-synonymous|Line Propagating
1755181|IGL00767|8|45896790|G->R|1.0|Probably damaging|MGI:1859274|Pdlim3|PDZ and LIM domain 3 [Source:MGI Symbol;Acc:MGI:1859274]|Heterozygous|Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.|G|A|16|39.5|Non-synonymous|Line Propagating
1755182|IGL00767|14|24165285|T->S|0.01|Benign|MGI:1918478|Dlg5|discs, large homolog 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918478]|Heterozygous|Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.|T|A|14|37.5|Non-synonymous|Line Propagating
1755183|IGL00767|6|67303562|I->V|0.07|Benign|MGI:1270861|Il12rb2|interleukin 12 receptor, beta 2 [Source:MGI Symbol;Acc:MGI:1270861]|Heterozygous|Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors.|T|C|14|38.5|Non-synonymous|Line Propagating
1755185|IGL00767|7|79451925|P->S|1.0|Probably damaging|MGI:1196389|Polg|polymerase (DNA directed), gamma [Source:MGI Symbol;Acc:MGI:1196389]|Heterozygous|Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality.|G|A|13|37.0|Non-synonymous|Line Propagating
1755186|IGL00767|2|11488754|D->G|1.0|Probably damaging|MGI:2181202|Pfkfb3|6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Source:MGI Symbol;Acc:MGI:2181202]|Heterozygous|Homozygous null mice display embryonic lethality before E8|T|C|12|37.5|Non-synonymous|Line Propagating
1755187|IGL00767|2|76885673|K->R||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|10|36.0|Non-synonymous|Line Propagating
1755191|IGL00767|9|70634003|Disrupted splicing|||MGI:2443086|Fam63b|family with sequence similarity 63, member B [Source:MGI Symbol;Acc:MGI:2443086]|Heterozygous||A|G|124|39.0|Splice|Line Propagating
1755192|IGL00767|1|53764023|Disrupted splicing|||MGI:2138162|Stk17b|serine/threonine kinase 17b (apoptosis-inducing) [Source:MGI Symbol;Acc:MGI:2138162]|Heterozygous|Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis.|A|G|115|39.0|Splice|Line Propagating
1755193|IGL00767|6|149334750|Disrupted splicing|||MGI:1914496|2810474o19rik|RIKEN cDNA 2810474O19 gene [Source:MGI Symbol;Acc:MGI:1914496]|Heterozygous||T|C|56|38.0|Splice|Line Propagating
1755194|IGL00767|10|86820273|Disrupted splicing|||MGI:3513266|Nt5dc3|5'-nucleotidase domain containing 3 [Source:MGI Symbol;Acc:MGI:3513266]|Heterozygous||T|A|33|37.0|Splice|Line Propagating
1755195|IGL00767|14|78587261|Disrupted splicing|||MGI:2444188|Dgkh|diacylglycerol kinase, eta [Source:MGI Symbol;Acc:MGI:2444188]|Heterozygous||T|A|16|39.0|Splice|Line Propagating
1758099|IGL00773|11|83035529|H->L|0.21|Benign|MGI:3512288|Slfn10-ps|schlafen 10, pseudogene [Source:MGI Symbol;Acc:MGI:3512288]|Heterozygous||T|A|109|39.0|Non-synonymous|Line Propagating
1758100|IGL00773|15|47590719|M->T|0.98|Probably damaging|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||A|G|98|40.0|Non-synonymous|Line Propagating
1758101|IGL00773|9|53522144|H->N|0.06|Benign|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|G|T|95|40.0|Non-synonymous|Line Propagating
1758102|IGL00773|3|36035337|L->P|1.0|Probably damaging|MGI:2681852|Ccdc144b|coiled-coil domain containing 144B [Source:MGI Symbol;Acc:MGI:2681852]|Heterozygous||A|G|86|40.0|Non-synonymous|Line Propagating
1758103|IGL00773|19|22900159|M->K|0.96|Probably damaging|MGI:2443101|Trpm3|transient receptor potential cation channel, subfamily M, member 3 [Source:MGI Symbol;Acc:MGI:2443101]|Heterozygous||T|A|85|40.0|Non-synonymous|Line Propagating
1758104|IGL00773|8|41274277|L->P|1.0|Probably damaging|MGI:1277958|Pcm1|pericentriolar material 1 [Source:MGI Symbol;Acc:MGI:1277958]|Heterozygous||T|C|79|39.0|Non-synonymous|Line Propagating
1758105|IGL00773|9|88394539|D->E|0.99|Probably damaging|MGI:2155664|Snx14|sorting nexin 14 [Source:MGI Symbol;Acc:MGI:2155664]|Heterozygous||A|T|49|39.0|Non-synonymous|Line Propagating
1758106|IGL00773|2|3519355|D->G|0.11|Benign|MGI:3606576|Cdnf|cerebral dopamine neurotrophic factor [Source:MGI Symbol;Acc:MGI:3606576]|Heterozygous||A|G|40|36.0|Non-synonymous|Line Propagating
1758107|IGL00773|3|59331539|V->A|0.04|Benign|MGI:1923481|Igsf10|immunoglobulin superfamily, member 10 [Source:MGI Symbol;Acc:MGI:1923481]|Heterozygous||A|G|39|38.0|Non-synonymous|Line Propagating
1758108|IGL00773|6|24118017|M->I|0.48|Possibly damaging|MGI:1859937|Slc13a1|solute carrier family 13 (sodium/sulfate symporters), member 1 [Source:MGI Symbol;Acc:MGI:1859937]|Heterozygous|Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures.|C|T|38|39.0|Non-synonymous|Line Propagating
1758109|IGL00773|17|84606868|T->M|0.12|Benign|MGI:2146813|Plekhh2|pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 [Source:MGI Symbol;Acc:MGI:2146813]|Heterozygous||C|T|37|37.0|Non-synonymous|Line Propagating
1758110|IGL00773|X|166502861|L->F|0.01|Benign|MGI:2685236|Tceanc|transcription elongation factor A (SII) N-terminal and central domain containing [Source:MGI Symbol;Acc:MGI:2685236]|Heterozygous||T|A|37|40.0|Non-synonymous|Line Propagating
1758111|IGL00773|16|63566684|Q->L|0.96|Probably damaging|MGI:99612|Epha3|Eph receptor A3 [Source:MGI Symbol;Acc:MGI:99612]|Heterozygous|Mice homozygous for disruptions in this gene usually die within 48 hours of birth of cardiac failure. Survivors develop normally with no indications of cardiac abnormalities.|T|A|34|37.5|Non-synonymous|Line Propagating
1758112|IGL00773|1|176755399|D->G|1.0|Probably damaging|MGI:1918348|Cep170|centrosomal protein 170 [Source:MGI Symbol;Acc:MGI:1918348]|Heterozygous||T|C|30|36.5|Non-synonymous|Line Propagating
1758113|IGL00773|3|95765109|F->Y|1.0|Probably damaging|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||A|T|26|36.5|Non-synonymous|Line Propagating
1758114|IGL00773|14|20447534|S->P|0.74|Possibly damaging|MGI:1923920|Ttc18|tetratricopeptide repeat domain 18 [Source:MGI Symbol;Acc:MGI:1923920]|Heterozygous||A|G|23|32.0|Non-synonymous|Line Propagating
1758115|IGL00773|16|97952320|D->E||Benign|MGI:1927240|Zfp295|zinc finger protein 295 [Source:MGI Symbol;Acc:MGI:1927240]|Heterozygous||A|T|22|37.0|Non-synonymous|Line Propagating
1758116|IGL00773|5|103784077|S->F|1.0|Probably damaging|MGI:1100819|Aff1|AF4/FMR2 family, member 1 [Source:MGI Symbol;Acc:MGI:1100819]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility.|C|T|20|38.5|Non-synonymous|Line Propagating
1758117|IGL00773|6|23002629|K->E|0.12|Benign|MGI:97816|Ptprz1|protein tyrosine phosphatase, receptor type Z, polypeptide 1 [Source:MGI Symbol;Acc:MGI:97816]|Heterozygous|Mice homozygous for targeted null mutations demonstrate an impaired ability to recover from inflamatory lesions of the CNS or gastric mucosa. Mice homozygous for a knock-out allele exhibit increased tactile and thermal nociception thresholds.|A|G|20|39.0|Non-synonymous|Line Propagating
1758118|IGL00773|18|34747241|S->T|1.0|Probably damaging|MGI:88350|Cdc25c|cell division cycle 25 homolog C (S. pombe) [Source:MGI Symbol;Acc:MGI:88350]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal T and B lymphocyte development and proliferative responses.|A|T|19|38.0|Non-synonymous|Line Propagating
1758119|IGL00773|12|98688313|M->I|||MGI:1344406|Ptpn21|protein tyrosine phosphatase, non-receptor type 21 [Source:MGI Symbol;Acc:MGI:1344406]|Heterozygous||C|T|17|35.0|Non-synonymous|Line Propagating
1758120|IGL00773|9|106858333|S->T|0.2|Benign|MGI:2445220|Vprbp|Vpr (HIV-1) binding protein [Source:MGI Symbol;Acc:MGI:2445220]|Heterozygous|Embryos homozygous for a knock-out allele die prior to E7.5.|T|A|17|33.0|Non-synonymous|Line Propagating
1758121|IGL00773|13|73544741|I->N|1.0|Probably damaging|MGI:94862|Slc6a3|solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 [Source:MGI Symbol;Acc:MGI:94862]|Heterozygous|Homozygotes for targeted null mutations exhibit dwarfism, hyperactivity (especially in a novel environment), 5-fold higher extracellular dopamine levels, impaired spatial cognitive function, anterior pituitary hypoplasia, and failure to lactate.|T|A|16|39.0|Non-synonymous|Line Propagating
1758122|IGL00773|4|43518251|K->E|1.0|Probably damaging|MGI:98810|Tpm2|tropomyosin 2, beta [Source:MGI Symbol;Acc:MGI:98810]|Heterozygous||T|C|15|39.0|Non-synonymous|Line Propagating
1758123|IGL00773|10|77949214|R->Stop||N/A|MGI:1351901|Trpm2|transient receptor potential cation channel, subfamily M, member 2 [Source:MGI Symbol;Acc:MGI:1351901]|Heterozygous|Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.|T|A|13|39.0|Non-synonymous|Line Propagating
1758124|IGL00773|17|43602871|I->S|1.0|Probably damaging|MGI:1351327|Pla2g7|phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) [Source:MGI Symbol;Acc:MGI:1351327]|Heterozygous||T|G|13|39.0|Non-synonymous|Line Propagating
1758125|IGL00773|5|90604140|V->M|1.0|Probably damaging|MGI:1920496|Rassf6|Ras association (RalGDS/AF-6) domain family member 6 [Source:MGI Symbol;Acc:MGI:1920496]|Heterozygous||C|T|13|39.0|Non-synonymous|Line Propagating
1758126|IGL00773|4|107084296|A->V||Benign|MGI:1919657|Cyb5rl|cytochrome b5 reductase-like [Source:MGI Symbol;Acc:MGI:1919657]|Heterozygous||C|T|12|38.0|Non-synonymous|Line Propagating
1758127|IGL00773|11|67194421|I->T|||MGI:1339710|Myh2|myosin, heavy polypeptide 2, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339710]|Heterozygous||T|C|11|37.0|Non-synonymous|Line Propagating
1758128|IGL00773|19|8621868|I->F|0.3|Benign|MGI:892001|Slc22a6|solute carrier family 22 (organic anion transporter), member 6 [Source:MGI Symbol;Acc:MGI:892001]|Heterozygous|Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions.|A|T|11|37.0|Non-synonymous|Line Propagating
1758132|IGL00773|2|114048113|Disrupted splicing|||MGI:87905|Actc1|actin, alpha, cardiac muscle 1 [Source:MGI Symbol;Acc:MGI:87905]|Heterozygous|Homozygous null mutation of this gene results in embryonic and postnatal lethality. Animals that survive to birth die within the first 2 weeks and display reduced body size and heart muscle defects.|T|C|17|36.0|Splice|Line Propagating
1759138|IGL00775|5|98784510|Y->H|0.92|Possibly damaging|MGI:1916571|1700007g11rik|RIKEN cDNA 1700007G11 gene [Source:MGI Symbol;Acc:MGI:1916571]|Heterozygous||T|C|122|39.0|Non-synonymous|Line Propagating
1759139|IGL00775|13|24840538|T->A|1.0|Probably damaging|MGI:1860486|Tdp2|tyrosyl-DNA phosphodiesterase 2 [Source:MGI Symbol;Acc:MGI:1860486]|Heterozygous|Homozygous mutant mice carrying a gene trap insertion into intron 5 but subsequently shown to harbor a partial duplication of the wild-type allele at the ES cell level are born with a normal Mendelian distribution.|A|G|47|38.0|Non-synonymous|Line Propagating
1759140|IGL00775|11|72728772|G->D|0.06|Benign|MGI:1337008|Ankfy1|ankyrin repeat and FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:1337008]|Heterozygous||G|A|46|38.0|Non-synonymous|Line Propagating
1759141|IGL00775|5|105017845|N->S|1.0|Probably damaging|MGI:1923324|Gbp8|guanylate-binding protein 8 [Source:MGI Symbol;Acc:MGI:1923324]|Heterozygous||T|C|36|40.0|Non-synonymous|Line Propagating
1759142|IGL00775|18|37519742|V->A|0.75|Possibly damaging|MGI:2136760|Pcdhb22|protocadherin beta 22 [Source:MGI Symbol;Acc:MGI:2136760]|Heterozygous||T|C|30|38.5|Non-synonymous|Line Propagating
1759143|IGL00775|4|114194692|D->V|1.0|Probably damaging|MGI:2685415|Skint11|selection and upkeep of intraepithelial T cells 11 [Source:MGI Symbol;Acc:MGI:2685415]|Heterozygous||A|T|29|37.0|Non-synonymous|Line Propagating
1759144|IGL00775|4|3904055|S->P||Benign|MGI:1891916|Plag1|pleiomorphic adenoma gene 1 [Source:MGI Symbol;Acc:MGI:1891916]|Heterozygous|Homozygous null mice display reduced male fertility, small seminal vesicles and ventral prostate, reduced litter size (females only), reduced embryonic and postnatal growth, and delayed eyelid opening.|A|G|18|38.0|Non-synonymous|Line Propagating
1759145|IGL00775|8|13879509|S->P|1.0|Probably damaging|MGI:1196398|Zfp828|zinc finger protein 828 [Source:MGI Symbol;Acc:MGI:1196398]|Heterozygous||T|C|18|36.0|Non-synonymous|Line Propagating
1759146|IGL00775|7|119658301|N->S|0.02|Benign|MGI:2152200|Acsm1|acyl-CoA synthetase medium-chain family member 1 [Source:MGI Symbol;Acc:MGI:2152200]|Heterozygous||A|G|16|38.5|Non-synonymous|Line Propagating
1759147|IGL00775|5|138133048|S->Stop||N/A|MGI:99182|Zscan21|zinc finger and SCAN domain containing 21 [Source:MGI Symbol;Acc:MGI:99182]|Heterozygous|Homozygotes for a targeted null mutation appear to be phenotypically normal.|C|A|14|38.0|Non-synonymous|Line Propagating
1759148|IGL00775|8|24921354|Y->C|1.0|Probably damaging|MGI:2653822|Adam32|a disintegrin and metallopeptidase domain 32 [Source:MGI Symbol;Acc:MGI:2653822]|Heterozygous||T|C|14|37.0|Non-synonymous|Line Propagating
1759149|IGL00775|17|30767906|Y->Stop||N/A|MGI:107714|Dnahc8|dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]|Heterozygous||T|G|11|38.0|Non-synonymous|Line Propagating
1759152|IGL00775|10|12745230|Disrupted splicing|||MGI:104631|Utrn|utrophin [Source:MGI Symbol;Acc:MGI:104631]|Heterozygous|Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.|A|G|41|38.0|Splice|Line Propagating
1759153|IGL00775|11|70724134|Disrupted splicing|||MGI:1098260|Kif1c|kinesin family member 1C [Source:MGI Symbol;Acc:MGI:1098260]|Heterozygous|Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport.|A|G|13|38.0|Splice|Line Propagating
1760136|IGL00777|X|123142873|L->P|0.98|Probably damaging|MGI:1920311|3110007f17rik|RIKEN cDNA 3110007F17 gene [Source:MGI Symbol;Acc:MGI:1920311]|Heterozygous||T|C|133|38.0|Non-synonymous|Line Propagating
1760137|IGL00777|5|45695765|S->G|0.84|Possibly damaging|MGI:1930197|Ncapg|non-SMC condensin I complex, subunit G [Source:MGI Symbol;Acc:MGI:1930197]|Heterozygous||A|G|127|39.0|Non-synonymous|Line Propagating
1760138|IGL00777|17|81648580|I->T||Benign|MGI:107956|Slc8a1|solute carrier family 8 (sodium/calcium exchanger), member 1 [Source:MGI Symbol;Acc:MGI:107956]|Heterozygous|Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.|A|G|90|39.0|Non-synonymous|Line Propagating
1760139|IGL00777|4|43448365|Y->C|0.83|Possibly damaging|MGI:88345|Cd72|CD72 antigen [Source:MGI Symbol;Acc:MGI:88345]|Heterozygous|Homozygous mutation of this gene results in impaired B cell development and delayed maturation, resulting in reduced numbers of mature B cells and an expansion of pre-B cells. Mice have fewer peripheral mature B-2 cells and more B-1 cells. B cells are hyperproliferative in response to stimuli.|T|C|87|36.0|Non-synonymous|Line Propagating
1760140|IGL00777|13|23622022|K->M||Unknown|MGI:1931527|Hist1h1e|histone cluster 1, H1e [Source:MGI Symbol;Acc:MGI:1931527]|Heterozygous|Homozygotes for targeted null mutations are normal, but Hist1h1e/Hist1h1c double knockout males are significantly smaller than normal. The Hist1h1e/Hist1h1d/Hist1h1e triple knockout is lethal by embryonic day 12.5, and heterozygotes are underrepresented.|T|A|77|35.0|Non-synonymous|Line Propagating
1760141|IGL00777|2|121429556|L->Q|1.0|Probably damaging|MGI:95834|Pdia3|protein disulfide isomerase associated 3 [Source:MGI Symbol;Acc:MGI:95834]|Heterozygous|Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormal bone volume bone morphology.|T|A|59|39.0|Non-synonymous|Line Propagating
1760142|IGL00777|10|62991054|C->Y|0.12|Benign|MGI:1917682|Rufy2|RUN and FYVE domain-containing 2 [Source:MGI Symbol;Acc:MGI:1917682]|Heterozygous||G|A|58|36.0|Non-synonymous|Line Propagating
1760143|IGL00777|1|26682092|D->Y|1.0|Probably damaging|MGI:3588222|4931408c20rik|RIKEN cDNA 4931408C20 gene [Source:MGI Symbol;Acc:MGI:3588222]|Heterozygous||C|A|51|38.0|Non-synonymous|Line Propagating
1760144|IGL00777|16|32836563|C->R|0.99|Probably damaging|MGI:1915160|1700021k19rik|RIKEN cDNA 1700021K19 gene [Source:MGI Symbol;Acc:MGI:1915160]|Heterozygous||A|G|51|36.0|Non-synonymous|Line Propagating
1760145|IGL00777|5|86524065|Y->H|1.0|Probably damaging|MGI:2442348|Tmprss11f|transmembrane protease, serine 11f [Source:MGI Symbol;Acc:MGI:2442348]|Heterozygous||A|G|50|37.0|Non-synonymous|Line Propagating
1760146|IGL00777|X|157177532|L->P|1.0|Probably damaging|MGI:107489|Phex|phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) [Source:MGI Symbol;Acc:MGI:107489]|Heterozygous|Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms.|A|G|41|38.0|Non-synonymous|Line Propagating
1760147|IGL00777|1|128287556|D->G||Benign|MGI:104576|Lct|lactase [Source:MGI Symbol;Acc:MGI:104576]|Heterozygous||T|C|37|34.0|Non-synonymous|Line Propagating
1760148|IGL00777|4|155651007|Y->S|0.06|Benign|MGI:1347361|Mmp23|matrix metallopeptidase 23 [Source:MGI Symbol;Acc:MGI:1347361]|Heterozygous||T|G|37|37.0|Non-synonymous|Line Propagating
1760149|IGL00777|3|83899290|P->T|0.99|Probably damaging|MGI:2443399|D930015e06rik|RIKEN cDNA D930015E06 gene [Source:MGI Symbol;Acc:MGI:2443399]|Heterozygous||G|T|35|33.0|Non-synonymous|Line Propagating
1760150|IGL00777|16|37613249|T->A|1.0|Probably damaging|MGI:96078|Hgd|homogentisate 1, 2-dioxygenase [Source:MGI Symbol;Acc:MGI:96078]|Heterozygous|Mutations in this gene result in high levels of urinary homogentisic acid.|A|G|34|38.0|Non-synonymous|Line Propagating
1760151|IGL00777|2|5929657|L->H|1.0|Probably damaging|MGI:2445096|Dhtkd1|dehydrogenase E1 and transketolase domain containing 1 [Source:MGI Symbol;Acc:MGI:2445096]|Heterozygous||A|T|31|37.0|Non-synonymous|Line Propagating
1760152|IGL00777|13|55238735|G->E|1.0|Probably damaging|MGI:1276545|Nsd1|nuclear receptor-binding SET-domain protein 1 [Source:MGI Symbol;Acc:MGI:1276545]|Heterozygous|Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10.|G|A|28|37.0|Non-synonymous|Line Propagating
1760153|IGL00777|1|161109755|T->A||Benign|MGI:2444855|Klhl20|kelch-like 20 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444855]|Heterozygous||T|C|26|32.5|Non-synonymous|Line Propagating
1760154|IGL00777|7|128203850|T->S|0.89|Possibly damaging|MGI:3578624|Itgad|integrin, alpha D [Source:MGI Symbol;Acc:MGI:3578624]|Heterozygous||A|T|20|36.5|Non-synonymous|Line Propagating
1760155|IGL00777|11|75390808|M->K||Benign|MGI:2442796|Smyd4|SET and MYND domain containing 4 [Source:MGI Symbol;Acc:MGI:2442796]|Heterozygous||T|A|16|39.0|Non-synonymous|Line Propagating
1760156|IGL00777|19|17395336|V->E||Benign|MGI:1914688|Rfk|riboflavin kinase [Source:MGI Symbol;Acc:MGI:1914688]|Heterozygous|Mice homozygous for a knock-out allele die in utero prior to E7.5.|T|A|16|40.0|Non-synonymous|Line Propagating
1760157|IGL00777|5|50025758|I->T|0.97|Probably damaging|MGI:1917943|Gpr125|G protein-coupled receptor 125 [Source:MGI Symbol;Acc:MGI:1917943]|Heterozygous|Homozygous mutant mice are fertile and grossly normal.|A|G|14|38.0|Non-synonymous|Line Propagating
1760158|IGL00777|15|8019607|M->K|0.02|Benign|MGI:1921020|Wdr70|WD repeat domain 70 [Source:MGI Symbol;Acc:MGI:1921020]|Heterozygous||A|T|13|39.0|Non-synonymous|Line Propagating
1760161|IGL00777|5|22018850|Disrupted splicing|||MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|A|G|50|37.5|Splice|Line Propagating
1760634|IGL00778|X|58034419|Y->C|0.98|Probably damaging|MGI:106676|Zic3|zinc finger protein of the cerebellum 3 [Source:MGI Symbol;Acc:MGI:106676]|Heterozygous|Mutants show incomplete penetrance varying by genetic background and allele. Phenotypes range from bent tail/skeletal abnormalities to severe defects in embryo turning, cardiac development and neural tube closure resulting in death at embryonic day 18.5|A|G|84|38.0|Non-synonymous|Line Propagating
1760635|IGL00778|11|84877324|I->T|0.01|Benign|MGI:1917575|Pigw|phosphatidylinositol glycan anchor biosynthesis, class W [Source:MGI Symbol;Acc:MGI:1917575]|Heterozygous||A|G|64|39.0|Non-synonymous|Line Propagating
1760636|IGL00778|10|24798262|C->F|1.0|Probably damaging|MGI:2143702|Enpp3|ectonucleotide pyrophosphatase/phosphodiesterase 3 [Source:MGI Symbol;Acc:MGI:2143702]|Heterozygous||C|A|44|41.0|Non-synonymous|Line Propagating
1760637|IGL00778|14|56674443|I->V||Benign|MGI:1922589|Mphosph8|M-phase phosphoprotein 8 [Source:MGI Symbol;Acc:MGI:1922589]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
1760638|IGL00778|6|118126272|M->K||Benign|MGI:1926002|Csgalnact2|chondroitin sulfate N-acetylgalactosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:1926002]|Heterozygous||A|T|40|37.0|Non-synonymous|Line Propagating
1760639|IGL00778|10|85879888|V->A|0.04|Benign|MGI:1914735|Pwp1|PWP1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914735]|Heterozygous||T|C|34|37.5|Non-synonymous|Line Propagating
1760640|IGL00778|3|106201797|S->P||Benign|MGI:1341098|Chi3l4|chitinase 3-like 4 [Source:MGI Symbol;Acc:MGI:1341098]|Heterozygous||A|G|31|40.0|Non-synonymous|Line Propagating
1760641|IGL00778|4|101096271|Q->K||Benign|MGI:2443623|Raver2|ribonucleoprotein, PTB-binding 2 [Source:MGI Symbol;Acc:MGI:2443623]|Heterozygous||C|A|31|38.0|Non-synonymous|Line Propagating
1760642|IGL00778|4|136339545|D->E||Unknown|MGI:1891692|Hnrnpr|heterogeneous nuclear ribonucleoprotein R [Source:MGI Symbol;Acc:MGI:1891692]|Heterozygous||T|A|29|37.0|Non-synonymous|Line Propagating
1760643|IGL00778|13|102705409|S->N||Benign|MGI:1194924|Cd180|CD180 antigen [Source:MGI Symbol;Acc:MGI:1194924]|Heterozygous|Mice homozygous for a null mutation showed impaired proliferative and humoral immune responses of B cells to lipopolysaccharides.|G|A|27|38.0|Non-synonymous|Line Propagating
1760644|IGL00778|1|189654912|C->S||Benign|MGI:1313302|Cenpf|centromere protein F [Source:MGI Symbol;Acc:MGI:1313302]|Heterozygous||A|T|26|36.5|Non-synonymous|Line Propagating
1760645|IGL00778|4|53086132|D->G||Benign|MGI:99607|Abca1|ATP-binding cassette, sub-family A (ABC1), member 1 [Source:MGI Symbol;Acc:MGI:99607]|Heterozygous|Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.|T|C|26|38.0|Non-synonymous|Line Propagating
1760646|IGL00778|12|64950066|D->E|1.0|Probably damaging|MGI:1913939|Klhl28|kelch-like 28 (Drosophila) [Source:MGI Symbol;Acc:MGI:1913939]|Heterozygous||A|T|21|38.0|Non-synonymous|Line Propagating
1760647|IGL00778|13|64215656|N->D|1.0|Probably damaging|MGI:2441808|Cdc14b|CDC14 cell division cycle 14 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2441808]|Heterozygous|Mice homozygous for a knock-out allele exhibit premature aging, including premature cataracts and kyphosis; reduced fertility, particularly in female mice; and impaired contextual conditioning.|T|C|20|40.0|Non-synonymous|Line Propagating
1760648|IGL00778|2|84993732|C->Y|1.0|Probably damaging|MGI:1858200|Prg3|proteoglycan 3 [Source:MGI Symbol;Acc:MGI:1858200]|Heterozygous||G|A|20|37.5|Non-synonymous|Line Propagating
1760649|IGL00778|7|125667374|R->W|1.0|Probably damaging|MGI:107887|Gtf3c1|general transcription factor III C 1 [Source:MGI Symbol;Acc:MGI:107887]|Heterozygous||G|A|17|36.0|Non-synonymous|Line Propagating
1760650|IGL00778|2|10402007|E->G|1.0|Probably damaging|MGI:2447794|Sfmbt2|Scm-like with four mbt domains 2 [Source:MGI Symbol;Acc:MGI:2447794]|Heterozygous||A|G|15|38.0|Non-synonymous|Line Propagating
1760652|IGL00778|5|67659903|K->N|0.86|Possibly damaging|MGI:1330848|Atp8a1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:MGI Symbol;Acc:MGI:1330848]|Heterozygous|Homozygous mutant mice are viable, fertile and phenotypically normal.|T|G|14|37.5|Non-synonymous|Line Propagating
1760653|IGL00778|4|140727623|I->L|0.22|Benign|MGI:2655198|Padi6|peptidyl arginine deiminase, type VI [Source:MGI Symbol;Acc:MGI:2655198]|Heterozygous|Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility.|T|A|12|38.0|Non-synonymous|Line Propagating
1760654|IGL00778|10|127909828|S->P|1.0|Probably damaging|MGI:1917311|Sdr9c7|4short chain dehydrogenase/reductase family 9C, member 7 [Source:MGI Symbol;Acc:MGI:1917311]|Heterozygous||T|C|10|34.5|Non-synonymous|Line Propagating
1760655|IGL00778|14|44163934|H->Y|0.04|Benign|MGI:1922204|4930503e14rik|RIKEN cDNA 4930503E14 gene [Source:MGI Symbol;Acc:MGI:1922204]|Heterozygous||G|A|10|34.5|Non-synonymous|Line Propagating
1760658|IGL00778|4|6435056|Disrupted splicing|||MGI:1341864|Nsmaf|neutral sphingomyelinase (N-SMase) activation associated factor [Source:MGI Symbol;Acc:MGI:1341864]|Heterozygous|Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality.|C|T|95|40.0|Splice|Line Propagating
1760659|IGL00778|9|95973447|Disrupted splicing|||MGI:891964|Xrn1|5'-3' exoribonuclease 1 [Source:MGI Symbol;Acc:MGI:891964]|Heterozygous||T|C|92|40.0|Splice|Line Propagating
1760660|IGL00778|11|106171150|Disrupted splicing|||MGI:1919399|Strada|STE20-related kinase adaptor alpha [Source:MGI Symbol;Acc:MGI:1919399]|Heterozygous||A|G|24|35.0|Splice|Line Propagating
1760661|IGL00778|14|101910885|Disrupted splicing|||MGI:1353586|Lmo7|LIM domain only 7 [Source:MGI Symbol;Acc:MGI:1353586]|Heterozygous|Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration.|C|T|23|39.0|Splice|Line Propagating
1760662|IGL00778|9|80283586|Disrupted splicing|||MGI:104785|Myo6|myosin VI [Source:MGI Symbol;Acc:MGI:104785]|Heterozygous|Homozygous mutant mice exhibit deafness and related behavioral characteristics such as circling, head tossing and hyperactivity. Progressive degeneration of the cochlear hair cells and the organ of Corti is observed with one mutation.|T|A|19|39.0|Splice|Line Propagating
1764711|IGL00786|14|56672544|V->A|0.02|Benign|MGI:1922589|Mphosph8|M-phase phosphoprotein 8 [Source:MGI Symbol;Acc:MGI:1922589]|Heterozygous||T|C|206|38.0|Non-synonymous|Line Propagating
1764712|IGL00786|11|102193105|M->V||Benign|MGI:1915651|G6pc3|glucose 6 phosphatase, catalytic, 3 [Source:MGI Symbol;Acc:MGI:1915651]|Heterozygous|Homozygous mutation of this gene results in females, but not males, that are growth retarded and weight less and exhibit elevated plasma glucagon levels but lowered plasma cholesterols after fasting.|A|G|119|35.0|Non-synonymous|Line Propagating
1764713|IGL00786|11|22100460|S->P|||MGI:2667252|Ehbp1|EH domain binding protein 1 [Source:MGI Symbol;Acc:MGI:2667252]|Heterozygous||A|G|101|38.0|Non-synonymous|Line Propagating
1764714|IGL00786|17|85096491|V->A|0.97|Probably damaging|MGI:1920832|1700106n22rik|RIKEN cDNA 1700106N22 gene [Source:MGI Symbol;Acc:MGI:1920832]|Heterozygous||T|C|101|38.0|Non-synonymous|Line Propagating
1764715|IGL00786|2|35375839|N->S||Benign|MGI:1922104|4930402f06rik|RIKEN cDNA 4930402F06 gene [Source:MGI Symbol;Acc:MGI:1922104]|Heterozygous||T|C|96|40.0|Non-synonymous|Line Propagating
1764716|IGL00786|4|155820880|R->W|1.0|Probably damaging|MGI:1927119|Ccnl2|cyclin L2 [Source:MGI Symbol;Acc:MGI:1927119]|Heterozygous||C|T|87|40.0|Non-synonymous|Line Propagating
1764717|IGL00786|19|58760497|N->S||Benign|MGI:1336202|Pnliprp2|pancreatic lipase-related protein 2 [Source:MGI Symbol;Acc:MGI:1336202]|Heterozygous|Mice homozygous for disruptions in this gene display deficient lipid absorbtion before weaning which results in growth retardation.|A|G|54|37.0|Non-synonymous|Line Propagating
1764718|IGL00786|5|4070522|A->E|1.0|Probably damaging|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||C|A|52|38.0|Non-synonymous|Line Propagating
1764719|IGL00786|8|121104468|R->Q|1.0|Probably damaging|MGI:2679252|Mthfsd|methenyltetrahydrofolate synthetase domain containing [Source:MGI Symbol;Acc:MGI:2679252]|Heterozygous||C|T|45|36.0|Non-synonymous|Line Propagating
1764720|IGL00786|9|21345935|V->E|0.99|Probably damaging|MGI:1915932|Slc44a2|solute carrier family 44, member 2 [Source:MGI Symbol;Acc:MGI:1915932]|Heterozygous||T|A|44|38.0|Non-synonymous|Line Propagating
1764721|IGL00786|2|143079926|V->I|1.0|Probably damaging|MGI:1888678|Otor|otoraplin [Source:MGI Symbol;Acc:MGI:1888678]|Heterozygous||G|A|43|40.0|Non-synonymous|Line Propagating
1764722|IGL00786|11|95031935|T->S||Benign|MGI:1343087|Pdk2|pyruvate dehydrogenase kinase, isoenzyme 2 [Source:MGI Symbol;Acc:MGI:1343087]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased muscle contractile force.|T|A|36|35.0|Non-synonymous|Line Propagating
1764723|IGL00786|6|13602675|I->V||Benign|MGI:1921794|Tmem168|transmembrane protein 168 [Source:MGI Symbol;Acc:MGI:1921794]|Heterozygous||T|C|30|39.0|Non-synonymous|Line Propagating
1764725|IGL00786|17|27879292|I->N|0.99|Probably damaging|MGI:3041238|Uhrf1bp1|UHRF1 (ICBP90) binding protein 1 [Source:MGI Symbol;Acc:MGI:3041238]|Heterozygous||T|A|27|37.0|Non-synonymous|Line Propagating
1764726|IGL00786|6|103675145|V->F|0.91|Possibly damaging|MGI:1098266|Chl1|cell adhesion molecule with homology to L1CAM [Source:MGI Symbol;Acc:MGI:1098266]|Heterozygous|Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior.|G|T|27|38.0|Non-synonymous|Line Propagating
1764727|IGL00786|7|19202582|Y->C|1.0|Probably damaging|MGI:1919455|Eml2|echinoderm microtubule associated protein like 2 [Source:MGI Symbol;Acc:MGI:1919455]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
1764728|IGL00786|1|65166243|S->P|1.0|Probably damaging|MGI:96413|Idh1|isocitrate dehydrogenase 1 (NADP+), soluble [Source:MGI Symbol;Acc:MGI:96413]|Heterozygous|Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequency in M. m. molossinus in Japan.|A|G|26|37.5|Non-synonymous|Line Propagating
1764729|IGL00786|12|112657671|G->V|1.0|Probably damaging|MGI:87986|Akt1|thymoma viral proto-oncogene 1 [Source:MGI Symbol;Acc:MGI:87986]|Heterozygous|Mutant homozygotes are smaller than sibs due to retarded prenatal and postnatal growth and exhibit increased apopotosis and decreased lifespan with genotoxic stress. Mice are fertile, but males have attenuated spermatogenesis and abnormal testes.|C|A|26|36.0|Non-synonymous|Line Propagating
1764730|IGL00786|4|117676396|R->Q|1.0|Probably damaging|MGI:1913483|Dmap1|DNA methyltransferase 1-associated protein 1 [Source:MGI Symbol;Acc:MGI:1913483]|Heterozygous|Mice homozygous for a knock-out allele die prior to implantation with no 8-cell embryos detected.|C|T|25|35.0|Non-synonymous|Line Propagating
1764731|IGL00786|9|90064238|V->A|1.0|Probably damaging|MGI:107285|Ctsh|cathepsin H [Source:MGI Symbol;Acc:MGI:107285]|Heterozygous|Mice homozygous for a reporter allele exhibit no abnormal phenotype.|T|C|25|38.0|Non-synonymous|Line Propagating
1764732|IGL00786|16|17211688|T->M|0.01|Benign|MGI:2685449|Rimbp3|RIMS binding protein 3 [Source:MGI Symbol;Acc:MGI:2685449]|Heterozygous||C|T|22|37.5|Non-synonymous|Line Propagating
1764733|IGL00786|9|45949803|S->P|0.01|Benign|MGI:2446134|Sidt2|SID1 transmembrane family, member 2 [Source:MGI Symbol;Acc:MGI:2446134]|Heterozygous||A|G|22|38.0|Non-synonymous|Line Propagating
1764734|IGL00786|6|25669318|V->A|0.84|Possibly damaging|MGI:1313297|Gpr37|G protein-coupled receptor 37 [Source:MGI Symbol;Acc:MGI:1313297]|Heterozygous|Mice homozygous for disruptions in this gene exhibit reduced striatal dopamine content, enhanced amphetamine sensitivity, reduced motor activity and coordination and increased percentage of body fat in females.|A|G|21|31.0|Non-synonymous|Line Propagating
1764735|IGL00786|2|154167252|C->Y|1.0|Probably damaging|MGI:1914385|2310021h06rik|RIKEN cDNA 2310021H06 gene [Source:MGI Symbol;Acc:MGI:1914385]|Heterozygous||G|A|20|36.5|Non-synonymous|Line Propagating
1764736|IGL00786|2|148872877|C->Stop||N/A|MGI:102519|Cst3|cystatin C [Source:MGI Symbol;Acc:MGI:102519]|Heterozygous|Mice homozygous for a null allele exhibit increased metastatic potential and decreased susceptibility to ischemic brain injury.|A|T|19|37.0|Non-synonymous|Line Propagating
1764737|IGL00786|19|8926785|E->G|0.01|Benign|MGI:1919977|B3gat3|beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) [Source:MGI Symbol;Acc:MGI:1919977]|Heterozygous||A|G|15|32.0|Non-synonymous|Line Propagating
1764738|IGL00786|17|78824634|H->N|0.98|Probably damaging|MGI:2444098|Heatr5b|HEAT repeat containing 5B [Source:MGI Symbol;Acc:MGI:2444098]|Heterozygous||G|T|14|37.0|Non-synonymous|Line Propagating
1764741|IGL00786|5|92303773|Disrupted splicing|||MGI:2140779|Sdad1|SDA1 domain containing 1 [Source:MGI Symbol;Acc:MGI:2140779]|Heterozygous||A|T|70|36.0|Splice|Line Propagating
1764742|IGL00786|2|13578510|Disrupted splicing|||MGI:98932|Vim|vimentin [Source:MGI Symbol;Acc:MGI:98932]|Heterozygous|Homozygous null mutants exhibit impaired performance in motor coordination tests; cerebellum shows underdeveloped/abnormal Bergman glia and stunted, poorly branched Purkinje cells. Mutants are unable to survive experimental 75% reduction of kidney mass.|T|C|23|37.0|Splice|Line Propagating
1765707|IGL00788|1|163024658|S->T||Benign|MGI:1925508|4921528o07rik|RIKEN cDNA 4921528O07 gene [Source:MGI Symbol;Acc:MGI:1925508]|Heterozygous||A|T|186|37.0|Non-synonymous|Line Propagating
1765708|IGL00788|3|86327685|M->L|0.74|Possibly damaging|MGI:1933162|Lrba|LPS-responsive beige-like anchor [Source:MGI Symbol;Acc:MGI:1933162]|Heterozygous||A|T|86|39.0|Non-synonymous|Line Propagating
1765709|IGL00788|14|61605670|F->L||Benign|MGI:1913847|Trim13|tripartite motif-containing 13 [Source:MGI Symbol;Acc:MGI:1913847]|Heterozygous||T|C|79|37.0|Non-synonymous|Line Propagating
1765710|IGL00788|18|15453030|Y->H|0.02|Benign|MGI:1918617|Chst9|carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 [Source:MGI Symbol;Acc:MGI:1918617]|Heterozygous||A|G|65|39.0|Non-synonymous|Line Propagating
1765711|IGL00788|12|51748788|S->N|0.05|Benign|MGI:2384768|Hectd1|HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]|Heterozygous|Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.|C|T|59|38.0|Non-synonymous|Line Propagating
1765712|IGL00788|1|193241458|M->I|0.17|Benign|MGI:103562|Hsd11b1|hydroxysteroid 11-beta dehydrogenase 1 [Source:MGI Symbol;Acc:MGI:103562]|Heterozygous|Mice homozygous for disruptions in this gene display a normal morphology. They have improved glucose tolerance and lower circulating lipid levels.|C|T|51|35.0|Non-synonymous|Line Propagating
1765713|IGL00788|X|93734909|F->L|0.04|Benign|MGI:2147987|Pcyt1b|phosphate cytidylyltransferase 1, choline, beta isoform [Source:MGI Symbol;Acc:MGI:2147987]|Heterozygous|Homozygous null mice reduced fertility, abnormal ovaries with absent corpora lutea and follicles, benign ovarian tumors, seminiferous tubule degeneration, and reduced spermatogenesis.|T|C|51|38.0|Non-synonymous|Line Propagating
1765714|IGL00788|18|88972509|S->T||Benign|MGI:2179288|Rttn|rotatin [Source:MGI Symbol;Acc:MGI:2179288]|Heterozygous|Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.|T|A|50|39.0|Non-synonymous|Line Propagating
1765715|IGL00788|7|90382698|D->E|||MGI:1933366|Sytl2|synaptotagmin-like 2 [Source:MGI Symbol;Acc:MGI:1933366]|Heterozygous|Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells|T|A|48|38.0|Non-synonymous|Line Propagating
1765716|IGL00788|1|12848449|D->G|0.02|Benign|MGI:2138563|Sulf1|sulfatase 1 [Source:MGI Symbol;Acc:MGI:2138563]|Heterozygous|Mice homozygous for a null allele display a slight increase in mortality early in life.|A|G|29|38.0|Non-synonymous|Line Propagating
1765717|IGL00788|16|22018364|D->G|1.0|Probably damaging|MGI:1923076|Senp2|SUMO/sentrin specific peptidase 2 [Source:MGI Symbol;Acc:MGI:1923076]|Heterozygous|Homozygous null mice are embryonic lethal due to placental defects resulting from abnormal trophoblast maturation.|A|G|28|35.0|Non-synonymous|Line Propagating
1765718|IGL00788|16|19957062|L->F||Benign|MGI:2686922|Klhl6|kelch-like 6 (Drosophila) [Source:MGI Symbol;Acc:MGI:2686922]|Heterozygous||G|A|24|39.5|Non-synonymous|Line Propagating
1765719|IGL00788|1|57885705|N->K|1.0|Probably damaging|MGI:1914448|Spats2l|spermatogenesis associated, serine-rich 2-like [Source:MGI Symbol;Acc:MGI:1914448]|Heterozygous||T|A|21|40.0|Non-synonymous|Line Propagating
1765720|IGL00788|6|4624400|T->A|0.87|Possibly damaging|MGI:2384865|Casd1|CAS1 domain containing 1 [Source:MGI Symbol;Acc:MGI:2384865]|Heterozygous||A|G|21|37.0|Non-synonymous|Line Propagating
1765722|IGL00788|5|16598230|Q->L|0.85|Possibly damaging|MGI:96079|Hgf|hepatocyte growth factor [Source:MGI Symbol;Acc:MGI:96079]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality.|A|T|18|40.0|Non-synonymous|Line Propagating
1765723|IGL00788|9|75168959|T->A|0.08|Benign|MGI:105976|Myo5a|myosin VA [Source:MGI Symbol;Acc:MGI:105976]|Heterozygous|Mutations in this gene cause abnormal melanocyte structure, resulting in clumping of melanin pigment in hair of nonagouti mice, producing a gray coat color. Some alleles also produce a lethal or neurological phenotype. Normal melanocyte structure and coat phenotype is restored in revertant alleles.|A|G|17|37.0|Non-synonymous|Line Propagating
1765724|IGL00788|5|4060480|E->G|1.0|Probably damaging|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||A|G|14|39.5|Non-synonymous|Line Propagating
1765725|IGL00788|5|100533555|E->G|1.0|Probably damaging|MGI:1349414|Cops4|COP9 (constitutive photomorphogenic) homolog, subunit 4 (Arabidopsis thaliana) [Source:MGI Symbol;Acc:MGI:1349414]|Heterozygous||A|G|14|38.0|Non-synonymous|Line Propagating
1765726|IGL00788|5|105050997|E->D|0.08|Benign|MGI:1923324|Gbp8|guanylate-binding protein 8 [Source:MGI Symbol;Acc:MGI:1923324]|Heterozygous||T|A|14|40.5|Non-synonymous|Line Propagating
1765727|IGL00788|5|21254024|V->M|0.84|Possibly damaging|MGI:2442259|Pion|pigeon homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2442259]|Heterozygous||G|A|11|39.0|Non-synonymous|Line Propagating
1765728|IGL00788|7|25065393|H->Y|1.0|Probably damaging|MGI:95818|Grik5|glutamate receptor, ionotropic, kainate 5 (gamma 2) [Source:MGI Symbol;Acc:MGI:95818]|Heterozygous|Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures.|G|A|10|39.0|Non-synonymous|Line Propagating
1765730|IGL00788|16|49009069|Disrupted splicing|||MGI:2146335|C330027c09rik|RIKEN cDNA C330027C09 gene [Source:MGI Symbol;Acc:MGI:2146335]|Heterozygous||T|A|301|40.0|Splice|Line Propagating
1765731|IGL00788|2|142210149|Disrupted splicing|||MGI:1920149|Macrod2|MACRO domain containing 2 [Source:MGI Symbol;Acc:MGI:1920149]|Heterozygous||T|A|276|40.0|Splice|Line Propagating
1765732|IGL00788|12|56713812|Disrupted splicing|||MGI:2445059|Slc25a21|solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 [Source:MGI Symbol;Acc:MGI:2445059]|Heterozygous||A|T|140|39.0|Splice|Line Propagating
1765733|IGL00788|19|40337043|Disrupted splicing|||MGI:700014|Sorbs1|sorbin and SH3 domain containing 1 [Source:MGI Symbol;Acc:MGI:700014]|Heterozygous|Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.|A|G|50|38.0|Splice|Line Propagating
1765734|IGL00788|19|45932350|Disrupted splicing|||MGI:1918867|9130011e15rik|RIKEN cDNA 9130011E15 gene [Source:MGI Symbol;Acc:MGI:1918867]|Heterozygous||C|T|46|40.0|Splice|Line Propagating
1765735|IGL00788|5|21221305|Disrupted splicing|||MGI:2442259|Pion|pigeon homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2442259]|Heterozygous||G|A|39|38.0|Splice|Line Propagating
1765736|IGL00788|9|24462568|Disrupted splicing|||MGI:1915685|Dpy19l1|dpy-19-like 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1915685]|Heterozygous||A|G|27|38.0|Splice|Line Propagating
1765737|IGL00788|7|25538573|Disrupted splicing|||MGI:1347246|Ceacam2|carcinoembryonic antigen-related cell adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:1347246]|Heterozygous||C|T|23|39.0|Splice|Line Propagating
1765738|IGL00788|2|52205732|Disrupted splicing|||MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|T|20|39.0|Splice|Line Propagating
1765739|IGL00788|9|21780479|Disrupted splicing|||MGI:2384568|Kank2|KN motif and ankyrin repeat domains 2 [Source:MGI Symbol;Acc:MGI:2384568]|Heterozygous||A|G|19|36.0|Splice|Line Propagating
1768185|IGL00793|14|56602877|A->S|0.29|Benign|MGI:2685589|Parp4|poly (ADP-ribose) polymerase family, member 4 [Source:MGI Symbol;Acc:MGI:2685589]|Heterozygous||G|T|208|37.0|Non-synonymous|Line Propagating
1768186|IGL00793|17|53665824|N->S||Benign|MGI:1343094|Kat2b|K(lysine) acetyltransferase 2B [Source:MGI Symbol;Acc:MGI:1343094]|Heterozygous|Mice homozygous for a null allele exhibit no abrnomal phenotype.|A|G|195|38.0|Non-synonymous|Line Propagating
1768187|IGL00793|12|51367762|S->T||Benign|MGI:2444298|G2e3|G2/M-phase specific E3 ubiquitin ligase [Source:MGI Symbol;Acc:MGI:2444298]|Heterozygous|Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst.|T|A|138|39.0|Non-synonymous|Line Propagating
1768188|IGL00793|4|134828206|S->P|0.9|Possibly damaging|MGI:1913396|Tmem57|transmembrane protein 57 [Source:MGI Symbol;Acc:MGI:1913396]|Heterozygous||A|G|136|37.0|Non-synonymous|Line Propagating
1768189|IGL00793|7|38106301|V->G||Benign|MGI:88316|Ccne1|cyclin E1 [Source:MGI Symbol;Acc:MGI:88316]|Heterozygous|Mice homozygous for disruptions in this gene display no abnormal phenotype.|A|C|112|37.0|Non-synonymous|Line Propagating
1768190|IGL00793|5|20896155|V->I||Benign|MGI:3036237|Rsbn1l|round spermatid basic protein 1-like [Source:MGI Symbol;Acc:MGI:3036237]|Heterozygous||C|T|93|39.0|Non-synonymous|Line Propagating
1768191|IGL00793|3|135884733|I->V|0.08|Benign|MGI:1914797|Slc39a8|solute carrier family 39 (metal ion transporter), member 8 [Source:MGI Symbol;Acc:MGI:1914797]|Heterozygous||A|G|75|39.0|Non-synonymous|Line Propagating
1768192|IGL00793|4|107217889|D->G|1.0|Probably damaging|MGI:3652166|Ldlrad1|low density lipoprotein receptor class A domain containing 1 [Source:MGI Symbol;Acc:MGI:3652166]|Heterozygous||A|G|71|37.0|Non-synonymous|Line Propagating
1768193|IGL00793|11|53411990|T->A|1.0|Probably damaging|MGI:2136171|Aff4|AF4/FMR2 family, member 4 [Source:MGI Symbol;Acc:MGI:2136171]|Heterozygous|Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities.|A|G|60|38.0|Non-synonymous|Line Propagating
1768194|IGL00793|12|75114346|V->F|0.98|Probably damaging|MGI:3584508|Kcnh5|potassium voltage-gated channel, subfamily H (eag-related), member 5 [Source:MGI Symbol;Acc:MGI:3584508]|Heterozygous||C|A|57|37.0|Non-synonymous|Line Propagating
1768195|IGL00793|14|103126753|V->D|0.14|Benign|MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|A|T|57|37.0|Non-synonymous|Line Propagating
1768196|IGL00793|7|110628581|Y->C|1.0|Probably damaging|MGI:108058|Adm|adrenomedullin [Source:MGI Symbol;Acc:MGI:108058]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiovascular defects, hyrdops fetalis, and lethality at midgestation.|A|G|57|31.0|Non-synonymous|Line Propagating
1768197|IGL00793|4|109087431|I->V||Benign|MGI:1923784|Osbpl9|oxysterol binding protein-like 9 [Source:MGI Symbol;Acc:MGI:1923784]|Heterozygous||T|C|54|37.0|Non-synonymous|Line Propagating
1768198|IGL00793|8|65014091|Y->N|0.04|Benign|MGI:2387432|Trim61|tripartite motif-containing 61 [Source:MGI Symbol;Acc:MGI:2387432]|Heterozygous||A|T|54|39.0|Non-synonymous|Line Propagating
1768199|IGL00793|16|78334227|Y->Stop||N/A|MGI:1201679|Cxadr|coxsackie virus and adenovirus receptor [Source:MGI Symbol;Acc:MGI:1201679]|Heterozygous|Homozygous null mice display embryonic lethality with focal cardiomyocyte apoptosis and extensive thoracic hemorrhaging.|C|A|49|38.0|Non-synonymous|Line Propagating
1768200|IGL00793|2|119180960|E->G||Benign|MGI:1916658|Dnajc17|DnaJ (Hsp40) homolog, subfamily C, member 17 [Source:MGI Symbol;Acc:MGI:1916658]|Heterozygous|Mice homozygous for a gene trapped allele die before implantation.|T|C|46|38.0|Non-synonymous|Line Propagating
1768201|IGL00793|9|108397406|D->G|0.99|Probably damaging|MGI:2148248|1700102p08rik|RIKEN cDNA 1700102P08 gene [Source:MGI Symbol;Acc:MGI:2148248]|Heterozygous||A|G|46|38.5|Non-synonymous|Line Propagating
1768202|IGL00793|15|98125594|V->A|0.19|Benign|MGI:97548|Pfkm|phosphofructokinase, muscle [Source:MGI Symbol;Acc:MGI:97548]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology.|T|C|45|38.0|Non-synonymous|Line Propagating
1768204|IGL00793|9|98585004|T->A||Benign|MGI:1354962|Copb2|coatomer protein complex, subunit beta 2 (beta prime) [Source:MGI Symbol;Acc:MGI:1354962]|Heterozygous||A|G|44|38.0|Non-synonymous|Line Propagating
1768205|IGL00793|12|83723018|S->T|0.58|Possibly damaging|MGI:1202717|Psen1|presenilin 1 [Source:MGI Symbol;Acc:MGI:1202717]|Heterozygous|Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death.|T|A|39|37.0|Non-synonymous|Line Propagating
1768206|IGL00793|2|153672502|M->K|0.98|Probably damaging|MGI:1261819|Dnmt3b|DNA methyltransferase 3B [Source:MGI Symbol;Acc:MGI:1261819]|Heterozygous|Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.|T|A|31|37.0|Non-synonymous|Line Propagating
1768207|IGL00793|10|115416874|V->A|0.95|Probably damaging|MGI:2446143|Zfc3h1|zinc finger, C3H1-type containing [Source:MGI Symbol;Acc:MGI:2446143]|Heterozygous||T|C|26|38.0|Non-synonymous|Line Propagating
1768208|IGL00793|9|24254693|R->L|1.0|Probably damaging|MGI:2441738|Npsr1|neuropeptide S receptor 1 [Source:MGI Symbol;Acc:MGI:2441738]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased airway resistance when treated with high concentrations of U-46619.|G|T|25|38.0|Non-synonymous|Line Propagating
1768209|IGL00793|11|118990545|N->I|1.0|Probably damaging|MGI:3027917|Enpp7|ectonucleotide pyrophosphatase/phosphodiesterase 7 [Source:MGI Symbol;Acc:MGI:3027917]|Heterozygous||A|T|23|37.0|Non-synonymous|Line Propagating
1768210|IGL00793|10|127542205|V->A|||MGI:96828|Lrp1|low density lipoprotein receptor-related protein 1 [Source:MGI Symbol;Acc:MGI:96828]|Heterozygous|Mice homozygous for a null allele exhibit lethality during late organogenesis.|A|G|17|37.0|Non-synonymous|Line Propagating
1768211|IGL00793|4|154152639|S->P|1.0|Probably damaging|MGI:1891749|Wdr8|WD repeat domain 8 [Source:MGI Symbol;Acc:MGI:1891749]|Heterozygous||T|C|17|35.0|Non-synonymous|Line Propagating
1768212|IGL00793|1|70299650|C->R|1.0|Probably damaging|MGI:1913972|Spag16|sperm associated antigen 16 [Source:MGI Symbol;Acc:MGI:1913972]|Heterozygous|Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras.|T|C|11|38.0|Non-synonymous|Line Propagating
1768214|IGL00793|4|135506407|Disrupted splicing|||MGI:1926056|4930555i21rik|RIKEN cDNA 4930555I21 gene [Source:MGI Symbol;Acc:MGI:1926056]|Heterozygous||A|G|49|38.0|Splice|Line Propagating
1768215|IGL00793|9|103226143|Disrupted splicing|||MGI:98821|Trf|transferrin [Source:MGI Symbol;Acc:MGI:98821]|Heterozygous|Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores.|A|G|45|39.0|Splice|Line Propagating
1768216|IGL00793|8|24837830|Disrupted splicing|||MGI:2653822|Adam32|a disintegrin and metallopeptidase domain 32 [Source:MGI Symbol;Acc:MGI:2653822]|Heterozygous||A|T|35|37.0|Splice|Line Propagating
1768217|IGL00793|7|4628757|Disrupted splicing|||MGI:1915505|Tmem86b|transmembrane protein 86B [Source:MGI Symbol;Acc:MGI:1915505]|Heterozygous||A|G|10|38.0|Splice|Line Propagating
1770184|IGL00797|5|43281447|T->I|1.0|Probably damaging|MGI:2442640|Cpeb2|cytoplasmic polyadenylation element binding protein 2 [Source:MGI Symbol;Acc:MGI:2442640]|Heterozygous||C|T|86|38.0|Non-synonymous|Line Propagating
1770185|IGL00797|5|43758401|L->F|1.0|Probably damaging|MGI:2152883|Fbxl5|F-box and leucine-rich repeat protein 5 [Source:MGI Symbol;Acc:MGI:2152883]|Heterozygous||T|A|20|40.0|Non-synonymous|Line Propagating
1770186|IGL00797|11|87098679|I->V||Benign|MGI:2444496|Prr11|proline rich 11 [Source:MGI Symbol;Acc:MGI:2444496]|Heterozygous||T|C|18|41.0|Non-synonymous|Line Propagating
1770187|IGL00797|11|78273150|T->A|0.93|Possibly damaging|MGI:1919753|2610507b11rik|RIKEN cDNA 2610507B11 gene [Source:MGI Symbol;Acc:MGI:1919753]|Heterozygous||A|G|14|38.5|Non-synonymous|Line Propagating
1770188|IGL00797|2|35284037|D->Y|1.0|Probably damaging|MGI:95851|Gsn|gelsolin [Source:MGI Symbol;Acc:MGI:95851]|Heterozygous|Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system. In addition, there are background related effects on viability and mammary gland development.|G|T|12|38.0|Non-synonymous|Line Propagating
1770192|IGL00797|7|18718275|Disrupted splicing|||MGI:1891354|Psg22|pregnancy-specific glycoprotein 22 [Source:MGI Symbol;Acc:MGI:1891354]|Heterozygous||A|G|31|39.0|Splice|Line Propagating
1770193|IGL00797|8|3602115|Disrupted splicing|||MGI:1916947|2310057j16rik|RIKEN cDNA 2310057J16 gene [Source:MGI Symbol;Acc:MGI:1916947]|Heterozygous||T|A|20|39.5|Splice|Line Propagating
1770194|IGL00797|15|91854543|Disrupted splicing|||MGI:1859618|Smgc|submandibular gland protein C [Source:MGI Symbol;Acc:MGI:1859618]|Heterozygous||A|T|18|37.0|Splice|Line Propagating
1770195|IGL00797|13|55607193|Disrupted splicing|||MGI:2384987|B4galt7|xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) [Source:MGI Symbol;Acc:MGI:2384987]|Heterozygous||A|T|10|38.0|Splice|Line Propagating
1771616|IGL00800|12|113490442|V->A|0.39|Benign|MGI:2444636|Adam6b|a disintegrin and metallopeptidase domain 6B [Source:MGI Symbol;Acc:MGI:2444636]|Heterozygous||T|C|138|38.0|Non-synonymous|Line Propagating
1771617|IGL00800|10|40239759|Q->Stop||N/A|MGI:1914489|Rpf2|ribosome production factor 2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914489]|Heterozygous||G|A|115|37.0|Non-synonymous|Line Propagating
1771618|IGL00800|12|91255664|K->E|0.12|Benign|MGI:1922466|4930534b04rik|RIKEN cDNA 4930534B04 gene [Source:MGI Symbol;Acc:MGI:1922466]|Heterozygous||T|C|107|39.0|Non-synonymous|Line Propagating
1771619|IGL00800|10|58490704|D->E||Benign|MGI:894323|Ranbp2|RAN binding protein 2 [Source:MGI Symbol;Acc:MGI:894323]|Heterozygous|Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.|T|A|61|39.0|Non-synonymous|Line Propagating
1771620|IGL00800|5|150980768|W->Stop||N/A|MGI:1101771|Kl|klotho [Source:MGI Symbol;Acc:MGI:1101771]|Heterozygous|Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen.|G|A|54|37.0|Non-synonymous|Line Propagating
1771621|IGL00800|7|120255390|I->L||Benign|MGI:2388708|Abca14|ATP-binding cassette, sub-family A (ABC1), member 14 [Source:MGI Symbol;Acc:MGI:2388708]|Heterozygous||A|T|42|39.0|Non-synonymous|Line Propagating
1771622|IGL00800|10|61205418|T->S||Benign|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||T|A|23|37.0|Non-synonymous|Line Propagating
1771623|IGL00800|13|17728142|V->A|0.97|Probably damaging|MGI:1916812|Cdk13|cyclin-dependent kinase 13 [Source:MGI Symbol;Acc:MGI:1916812]|Heterozygous||A|G|18|36.0|Non-synonymous|Line Propagating
1771625|IGL00800|19|44298130|L->P|1.0|Probably damaging|MGI:98240|Scd2|stearoyl-Coenzyme A desaturase 2 [Source:MGI Symbol;Acc:MGI:98240]|Heterozygous|Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver.|T|C|15|40.0|Non-synonymous|Line Propagating
1771626|IGL00800|6|84149998|N->S|0.11|Benign|MGI:1349385|Dysf|dysferlin [Source:MGI Symbol;Acc:MGI:1349385]|Heterozygous|Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.|A|G|15|36.0|Non-synonymous|Line Propagating
1771627|IGL00800|2|131040283|S->P|||MGI:1341873|Gfra4|glial cell line derived neurotrophic factor family receptor alpha 4 [Source:MGI Symbol;Acc:MGI:1341873]|Heterozygous|Homozygotes for targeted null mutations are mice were viable, fertile, showed no overt anatomical defects. Thyroid tissue calcitonin content was reduced in null homozygotes and rate of bone formation was enhanced when in 129/B6 hybrid background strain.|A|G|13|33.0|Non-synonymous|Line Propagating
1771628|IGL00800|15|9525109|T->P|0.98|Probably damaging|MGI:96562|Il7r|interleukin 7 receptor [Source:MGI Symbol;Acc:MGI:96562]|Heterozygous||T|G|10|37.5|Non-synonymous|Line Propagating
1771629|IGL00800|4|117912308|D->N|0.53|Possibly damaging|MGI:2385205|Ipo13|importin 13 [Source:MGI Symbol;Acc:MGI:2385205]|Heterozygous||C|T|10|37.0|Non-synonymous|Line Propagating
1771632|IGL00800|6|91741170|Disrupted splicing|||MGI:98488|Slc6a6|solute carrier family 6 (neurotransmitter transporter, taurine), member 6 [Source:MGI Symbol;Acc:MGI:98488]|Heterozygous|Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues.|T|A|42|35.5|Splice|Line Propagating
1773130|IGL00803|5|34122760|L->I|0.02|Benign|MGI:2675617|Poln|DNA polymerase N [Source:MGI Symbol;Acc:MGI:2675617]|Heterozygous||G|T|50|38.5|Non-synonymous|Line Propagating
1773131|IGL00803|11|71013454|V->E|0.98|Probably damaging|MGI:2151483|Derl2|Der1-like domain family, member 2 [Source:MGI Symbol;Acc:MGI:2151483]|Heterozygous|Mice homozygous for a knock-out allele exhibit partial neonatal lethality with surviving mice exhibiting male sterility, inverted rib cage, abnormal chondrocytes in the ribs, lethality during pregancy, cachexia, and premature death.|A|T|46|39.0|Non-synonymous|Line Propagating
1773132|IGL00803|X|78090726|M->R|0.92|Possibly damaging|MGI:1277949|Obp1a|odorant binding protein Ia [Source:MGI Symbol;Acc:MGI:1277949]|Heterozygous||A|C|35|39.0|Non-synonymous|Line Propagating
1773133|IGL00803|7|29069645|Q->L|0.65|Possibly damaging|MGI:99659|Ryr1|ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]|Heterozygous|Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.|T|A|22|39.0|Non-synonymous|Line Propagating
1773134|IGL00803|3|93470900|T->A|0.66|Possibly damaging|MGI:1918575|Tchhl1|trichohyalin-like 1 [Source:MGI Symbol;Acc:MGI:1918575]|Heterozygous||A|G|19|39.0|Non-synonymous|Line Propagating
1773135|IGL00803|1|34164124|V->I|0.03|Benign|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|G|A|17|34.0|Non-synonymous|Line Propagating
1773136|IGL00803|16|4483220|F->L|0.96|Probably damaging|MGI:2146620|Srl|sarcalumenin [Source:MGI Symbol;Acc:MGI:2146620]|Heterozygous|Homozygous null mice exhibit impaired calcium store functions in skeletal and cardiac muscle cells resulting in slow contraction and relaxation phases. Muscle also exhibits enhanced resistance to fatigue.|G|T|17|37.0|Non-synonymous|Line Propagating
1773137|IGL00803|9|3430810|S->T|0.71|Possibly damaging|MGI:1918023|Cwf19l2|CWF19-like 2, cell cycle control (S. pombe) [Source:MGI Symbol;Acc:MGI:1918023]|Heterozygous||T|A|14|40.5|Non-synonymous|Line Propagating
1773138|IGL00803|X|48369552|T->K|1.0|Probably damaging|MGI:2443910|Bcorl1|BCL6 co-repressor-like 1 [Source:MGI Symbol;Acc:MGI:2443910]|Heterozygous||C|A|12|37.0|Non-synonymous|Line Propagating
1773139|IGL00803|5|31088044|S->P|1.0|Probably damaging|MGI:1345280|Slc30a3|solute carrier family 30 (zinc transporter), member 3 [Source:MGI Symbol;Acc:MGI:1345280]|Heterozygous|While zinc is absent from synaptic vesicles in homozygous null mice, inactivation of this locus does not affect brain morphology.|A|G|10|36.5|Non-synonymous|Line Propagating
1773141|IGL00803|5|146001443|Disrupted splicing|||MGI:1930638|Cyp3a25|cytochrome P450, family 3, subfamily a, polypeptide 25 [Source:MGI Symbol;Acc:MGI:1930638]|Heterozygous||A|T|21|33.0|Splice|Line Propagating
1773142|IGL00803|4|106385526|Disrupted splicing|||MGI:1919936|Usp24|ubiquitin specific peptidase 24 [Source:MGI Symbol;Acc:MGI:1919936]|Heterozygous||T|C|16|39.0|Splice|Line Propagating
1774097|IGL00806|1|140523211|Y->H|0.92|Possibly damaging|MGI:3036273|Kcnt2|potassium channel, subfamily T, member 2 [Source:MGI Symbol;Acc:MGI:3036273]|Heterozygous||T|C|338|40.0|Non-synonymous|Line Propagating
1774098|IGL00806|2|39052973|L->Stop||N/A|MGI:1924149|Golga1|golgi autoantigen, golgin subfamily a, 1 [Source:MGI Symbol;Acc:MGI:1924149]|Heterozygous||A|T|316|38.0|Non-synonymous|Line Propagating
1774100|IGL00806|8|43521342|Y->D|1.0|Probably damaging|MGI:3588304|Adam26b|a disintegrin and metallopeptidase domain 26B [Source:MGI Symbol;Acc:MGI:3588304]|Heterozygous||A|C|146|39.0|Non-synonymous|Line Propagating
1774101|IGL00806|5|63937814|E->G|1.0|Probably damaging|MGI:2140767|Rell1|RELT-like 1 [Source:MGI Symbol;Acc:MGI:2140767]|Heterozygous||T|C|135|37.0|Non-synonymous|Line Propagating
1774102|IGL00806|14|75963008|T->S|0.53|Possibly damaging|MGI:1915955, MGI:1914766|Gtf2f2,kctd4|general transcription factor IIF, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1915955],potassium channel tetramerisation domain containing 4 [Source:MGI Symbol;Acc:MGI:1914766]|Heterozygous||A|T|80|35.0|Non-synonymous|Line Propagating
1774103|IGL00806|12|95780529|I->T|1.0|Probably damaging|MGI:3603594|Flrt2|fibronectin leucine rich transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:3603594]|Heterozygous||T|C|63|35.0|Non-synonymous|Line Propagating
1774104|IGL00806|9|66089585|Y->Stop||N/A|MGI:1928395|Snx1|sorting nexin 1 [Source:MGI Symbol;Acc:MGI:1928395]|Heterozygous|Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities.|A|T|37|39.0|Non-synonymous|Line Propagating
1774105|IGL00806|17|74611529|V->D|0.56|Possibly damaging|MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|T|A|33|37.0|Non-synonymous|Line Propagating
1774106|IGL00806|2|12255966|Q->Stop||N/A|MGI:109442|Itga8|integrin alpha 8 [Source:MGI Symbol;Acc:MGI:109442]|Heterozygous|Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear.|G|A|31|39.0|Non-synonymous|Line Propagating
1774107|IGL00806|8|66885800|Q->R|0.88|Possibly damaging|MGI:2682306|Naf1|nuclear assembly factor 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2682306]|Heterozygous||A|G|31|37.0|Non-synonymous|Line Propagating
1774108|IGL00806|2|118441166|E->G||Benign|MGI:1353427|Eif2ak4|eukaryotic translation initiation factor 2 alpha kinase 4 [Source:MGI Symbol;Acc:MGI:1353427]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit increased susceptibility to macrophage infection with Ad5-F16-GFP and MCMV.|A|G|28|38.0|Non-synonymous|Line Propagating
1774109|IGL00806|9|98570664|C->R|0.86|Possibly damaging|MGI:1354962|Copb2|coatomer protein complex, subunit beta 2 (beta prime) [Source:MGI Symbol;Acc:MGI:1354962]|Heterozygous||T|C|28|34.5|Non-synonymous|Line Propagating
1774110|IGL00806|15|37931622|D->N||Benign|MGI:2155865|Rrm2b|ribonucleotide reductase M2 B (TP53 inducible) [Source:MGI Symbol;Acc:MGI:2155865]|Heterozygous|Loss of both functional copies of this gene results in growth retardation, multiple organ failure, and ultimately premature death due to kidney failure. Spontaneous mutation rates and apoptosis are increased in the kidneys due to an attenuation of dNTP pools and a resulting impairment of DNA repair.|C|T|27|40.0|Non-synonymous|Line Propagating
1774111|IGL00806|8|68902366|S->P||Benign|MGI:96820|Lpl|lipoprotein lipase [Source:MGI Symbol;Acc:MGI:96820]|Heterozygous|Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels.|T|C|26|39.0|Non-synonymous|Line Propagating
1774112|IGL00806|9|6288667|D->G||Benign|MGI:1919035|Pdgfd|platelet-derived growth factor, D polypeptide [Source:MGI Symbol;Acc:MGI:1919035]|Heterozygous||A|G|21|39.0|Non-synonymous|Line Propagating
1774113|IGL00806|2|29127026|Y->C|1.0|Probably damaging|MGI:2443480|Setx|senataxin [Source:MGI Symbol;Acc:MGI:2443480]|Heterozygous||A|G|11|31.0|Non-synonymous|Line Propagating
1775059|IGL00808|1|139461476|S->T||Benign|MGI:1334448|Aspm|asp (abnormal spindle)-like, microcephaly associated (Drosophila) [Source:MGI Symbol;Acc:MGI:1334448]|Heterozygous||T|A|210|37.0|Non-synonymous|Line Propagating
1775060|IGL00808|17|65983965|L->S|||MGI:1914357|Ankrd12|ankyrin repeat domain 12 [Source:MGI Symbol;Acc:MGI:1914357]|Heterozygous||A|G|52|37.0|Non-synonymous|Line Propagating
1775061|IGL00808|7|97716514|H->R|1.0|Probably damaging|MGI:109638|Clns1a|chloride channel, nucleotide-sensitive, 1A [Source:MGI Symbol;Acc:MGI:109638]|Heterozygous|Homozygous mutants die between E3.5-E7.5. Heterozygous mutants appear normal and healthy.|A|G|41|37.0|Non-synonymous|Line Propagating
1775062|IGL00808|15|65995754|D->G|0.42|Benign|MGI:1336181|Kcnq3|potassium voltage-gated channel, subfamily Q, member 3 [Source:MGI Symbol;Acc:MGI:1336181]|Heterozygous|Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.|T|C|33|37.0|Non-synonymous|Line Propagating
1775063|IGL00808|7|80259549|A->S|0.24|Benign|MGI:1920845|Ttll13|tubulin tyrosine ligase-like family, member 13 [Source:MGI Symbol;Acc:MGI:1920845]|Heterozygous||G|T|33|37.0|Non-synonymous|Line Propagating
1775064|IGL00808|5|84106700|V->E|0.98|Probably damaging|MGI:99654|Epha5|Eph receptor A5 [Source:MGI Symbol;Acc:MGI:99654]|Heterozygous|Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping.|A|T|32|38.0|Non-synonymous|Line Propagating
1775065|IGL00808|6|118088203|K->M|0.56|Possibly damaging|MGI:1917977|Rasgef1a|RasGEF domain family, member 1A [Source:MGI Symbol;Acc:MGI:1917977]|Heterozygous||A|T|30|35.0|Non-synonymous|Line Propagating
1775066|IGL00808|7|28614952|I->T|1.0|Probably damaging|MGI:2142121|C330005m16rik|RIKEN cDNA C330005M16 gene [Source:MGI Symbol;Acc:MGI:2142121]|Heterozygous||A|G|19|37.0|Non-synonymous|Line Propagating
1775067|IGL00808|13|59462094|E->G|0.89|Possibly damaging|MGI:2159437|Agtpbp1|ATP/GTP binding protein 1 [Source:MGI Symbol;Acc:MGI:2159437]|Heterozygous|Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile.|T|C|18|36.5|Non-synonymous|Line Propagating
1775068|IGL00808|15|66683813|Y->N|1.0|Probably damaging|MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|T|A|17|37.0|Non-synonymous|Line Propagating
1775069|IGL00808|1|157470676|F->L||Benign|MGI:2448516|Bc026585|cDNA sequence BC026585 [Source:MGI Symbol;Acc:MGI:2448516]|Heterozygous||T|C|15|36.0|Non-synonymous|Line Propagating
1775070|IGL00808|7|28290426|S->P|||MGI:3608324|Bc089491|cDNA sequence BC089491 [Source:MGI Symbol;Acc:MGI:3608324]|Heterozygous||A|G|14|36.0|Non-synonymous|Line Propagating
1775071|IGL00808|7|29198146|S->P|0.95|Possibly damaging|MGI:2443617|Catsperg1|cation channel, sperm-associated, gamma 1 [Source:MGI Symbol;Acc:MGI:2443617]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
1775072|IGL00808|6|145246748|T->A|1.0|Probably damaging|MGI:96680|Kras|v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog [Source:MGI Symbol;Acc:MGI:96680]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality, decreased fetal growth, pericardial edema, anemia, and liver hypoplasia. Mice heterozygous for various knock-in alleles exhibit increased tumorigenesis.|T|C|12|37.5|Non-synonymous|Line Propagating
1775073|IGL00808|7|81283014|Disrupted splicing|||MGI:1277116|Pde8a|phosphodiesterase 8A [Source:MGI Symbol;Acc:MGI:1277116]|Heterozygous|Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.|G|A|56|38.0|Splice|Line Propagating
1775074|IGL00808|11|67335004|Disrupted splicing|||MGI:1339967|Myh13|myosin, heavy polypeptide 13, skeletal muscle [Source:MGI Symbol;Acc:MGI:1339967]|Heterozygous||T|C|51|37.0|Splice|Line Propagating
1775075|IGL00808|13|14136261|Disrupted splicing|||MGI:2137512|Arid4b|AT rich interactive domain 4B (RBP1-like) [Source:MGI Symbol;Acc:MGI:2137512]|Heterozygous|Mice homozygous for a null allele die pre-implantation.|T|C|23|39.0|Splice|Line Propagating
1775077|IGL00808|12|13566120|Disrupted splicing|||MGI:1918419|Nbas|neuroblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1918419]|Heterozygous||T|C|13|35.0|Splice|Line Propagating
1780702|IGL00819|6|106776222|Y->Stop||N/A|MGI:1917297|Trnt1|tRNA nucleotidyl transferase, CCA-adding, 1 [Source:MGI Symbol;Acc:MGI:1917297]|Heterozygous||T|A|231|39.0|Non-synonymous|Line Propagating
1780703|IGL00819|15|58054694|V->A||Benign|MGI:109271|Zhx1|zinc fingers and homeoboxes 1 [Source:MGI Symbol;Acc:MGI:109271]|Heterozygous||A|G|129|39.0|Non-synonymous|Line Propagating
1780704|IGL00819|7|101992710|G->W|0.99|Probably damaging|MGI:2443665|Numa1|nuclear mitotic apparatus protein 1 [Source:MGI Symbol;Acc:MGI:2443665]|Heterozygous|Mice homozygous for a knock-out or hypomorphic allele exhibit embryonic lethality by E9.5.|G|T|98|39.0|Non-synonymous|Line Propagating
1780705|IGL00819|2|76743050|I->T||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|95|39.0|Non-synonymous|Line Propagating
1780706|IGL00819|9|53518531|S->P|1.0|Probably damaging|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|A|G|87|39.0|Non-synonymous|Line Propagating
1780707|IGL00819|13|22556947|Y->Stop||N/A|MGI:3651399|Vmn1r204|vomeronasal 1 receptor 204 [Source:MGI Symbol;Acc:MGI:3651399]|Heterozygous||T|A|84|39.0|Non-synonymous|Line Propagating
1780708|IGL00819|2|118249912|R->L|0.16|Benign|MGI:1918563|Fsip1|fibrous sheath-interacting protein 1 [Source:MGI Symbol;Acc:MGI:1918563]|Heterozygous||C|A|81|40.0|Non-synonymous|Line Propagating
1780709|IGL00819|5|14858846|N->S|0.97|Probably damaging|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|G|61|39.0|Non-synonymous|Line Propagating
1780710|IGL00819|6|88909336|M->K|1.0|Probably damaging|MGI:1345190|Tpra1|transmembrane protein, adipocyte asscociated 1 [Source:MGI Symbol;Acc:MGI:1345190]|Heterozygous||T|A|60|38.0|Non-synonymous|Line Propagating
1780711|IGL00819|5|90604071|K->E|0.01|Benign|MGI:1920496|Rassf6|Ras association (RalGDS/AF-6) domain family member 6 [Source:MGI Symbol;Acc:MGI:1920496]|Heterozygous||T|C|58|40.0|Non-synonymous|Line Propagating
1780712|IGL00819|1|54263573|N->K|0.98|Probably damaging|MGI:1925266|Ccdc150|coiled-coil domain containing 150 [Source:MGI Symbol;Acc:MGI:1925266]|Heterozygous||T|A|55|38.0|Non-synonymous|Line Propagating
1780713|IGL00819|5|73148108|V->D|||MGI:1919563|Fryl|furry homolog-like (Drosophila) [Source:MGI Symbol;Acc:MGI:1919563]|Heterozygous||A|T|48|37.0|Non-synonymous|Line Propagating
1780714|IGL00819|11|23743029|F->I|0.02|Benign|MGI:97897|Rel|reticuloendotheliosis oncogene [Source:MGI Symbol;Acc:MGI:97897]|Heterozygous||A|T|47|40.0|Non-synonymous|Line Propagating
1780715|IGL00819|1|172496636|S->P||Benign|MGI:2135283|Igsf9|immunoglobulin superfamily, member 9 [Source:MGI Symbol;Acc:MGI:2135283]|Heterozygous|Mice homozygous for targeted null mutations are viable and fertile.|T|C|42|37.0|Non-synonymous|Line Propagating
1780716|IGL00819|1|175896237|V->A||Benign|MGI:1349427|Exo1|exonuclease 1 [Source:MGI Symbol;Acc:MGI:1349427]|Heterozygous|Homozygous mutation of this gene results in reduced life span, lymphoma development, and male/female sterilty due to defective meiosis.|T|C|41|38.0|Non-synonymous|Line Propagating
1780717|IGL00819|11|98557592|H->L|0.76|Possibly damaging|MGI:1916626|Zpbp2|zona pellucida binding protein 2 [Source:MGI Symbol;Acc:MGI:1916626]|Heterozygous|Male mice homozygous for a null mutation display reduced fecundity, mild teratozoospermia, and delayed fertilization.|A|T|41|39.0|Non-synonymous|Line Propagating
1780718|IGL00819|1|171384686|L->S|1.0|Probably damaging|MGI:1918990|Pvrl4|poliovirus receptor-related 4 [Source:MGI Symbol;Acc:MGI:1918990]|Heterozygous||T|C|37|37.0|Non-synonymous|Line Propagating
1780719|IGL00819|10|108240821|S->P|0.81|Possibly damaging|MGI:1309528|Ppp1r12a|protein phosphatase 1, regulatory (inhibitor) subunit 12A [Source:MGI Symbol;Acc:MGI:1309528]|Heterozygous|Homozygous null mice die before E7.5.|T|C|34|38.0|Non-synonymous|Line Propagating
1780720|IGL00819|1|84754272|G->S|1.0|Probably damaging|MGI:1309481|Trip12|thyroid hormone receptor interactor 12 [Source:MGI Symbol;Acc:MGI:1309481]|Heterozygous||C|T|33|40.0|Non-synonymous|Line Propagating
1780721|IGL00819|13|83625380|D->V|1.0|Probably damaging|MGI:99458|Mef2c|myocyte enhancer factor 2C [Source:MGI Symbol;Acc:MGI:99458]|Heterozygous|Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.|A|T|33|38.0|Non-synonymous|Line Propagating
1780722|IGL00819|11|82046575|N->S|0.37|Benign|MGI:99512|Ccl7|chemokine (C-C motif) ligand 7 [Source:MGI Symbol;Acc:MGI:99512]|Heterozygous||A|G|32|38.5|Non-synonymous|Line Propagating
1780723|IGL00819|1|93346256|D->E|0.01|Benign|MGI:1913635|Ppp1r7|protein phosphatase 1, regulatory (inhibitor) subunit 7 [Source:MGI Symbol;Acc:MGI:1913635]|Heterozygous||T|A|30|38.0|Non-synonymous|Line Propagating
1780724|IGL00819|7|121740437|E->G||Benign|MGI:104695|Scnn1g|sodium channel, nonvoltage-gated 1 gamma [Source:MGI Symbol;Acc:MGI:104695]|Heterozygous|Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations.|A|G|28|35.0|Non-synonymous|Line Propagating
1780725|IGL00819|15|84018642|I->T|0.81|Possibly damaging|MGI:1924877|Efcab6|EF-hand calcium binding domain 6 [Source:MGI Symbol;Acc:MGI:1924877]|Heterozygous||A|G|27|40.0|Non-synonymous|Line Propagating
1780728|IGL00819|11|70394618|P->L||Unknown|MGI:1922523|Pelp1|proline, glutamic acid and leucine rich protein 1 [Source:MGI Symbol;Acc:MGI:1922523]|Heterozygous||G|A|24|33.0|Non-synonymous|Line Propagating
1780729|IGL00819|3|89007736|V->E|0.67|Possibly damaging|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|A|24|38.0|Non-synonymous|Line Propagating
1780730|IGL00819|10|61092140|E->A|0.39|Benign|MGI:94873|Pcbd1|pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 [Source:MGI Symbol;Acc:MGI:94873]|Heterozygous|Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation.|A|C|23|38.0|Non-synonymous|Line Propagating
1780731|IGL00819|4|139476282|T->I|1.0|Probably damaging|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||C|T|20|37.5|Non-synonymous|Line Propagating
1780732|IGL00819|1|64042317|D->G|0.28|Benign|MGI:1935151|Klf7|Kruppel-like factor 7 (ubiquitous) [Source:MGI Symbol;Acc:MGI:1935151]|Heterozygous|Homozygous null mice die within 3 days of life, showing lack of gastic milk, hypopnea, cyanosis, olfactory bulb hypoplasia, no response to tail clamping, impaired axon projection in the olfactory and visual systems, cerebral cortex and hippocampus, and reduced dendritic branching in the hippocampus.|T|C|19|39.0|Non-synonymous|Line Propagating
1780733|IGL00819|6|47931322|P->S|1.0|Probably damaging|MGI:2682609|Zfp212|Zinc finger protein 212 [Source:MGI Symbol;Acc:MGI:2682609]|Heterozygous||C|T|18|39.0|Non-synonymous|Line Propagating
1780734|IGL00819|4|150125656|Y->H|1.0|Probably damaging|MGI:1928369|Slc2a5|solute carrier family 2 (facilitated glucose transporter), member 5 [Source:MGI Symbol;Acc:MGI:1928369]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance.|T|C|11|35.0|Non-synonymous|Line Propagating
1780738|IGL00819|3|96683034|Disrupted splicing|||MGI:2442590|Ankrd35|ankyrin repeat domain 35 [Source:MGI Symbol;Acc:MGI:2442590]|Heterozygous||A|T|63|37.0|Splice|Line Propagating
1780739|IGL00819|11|69473350|Disrupted splicing|||MGI:107731|Dnahc2|dynein, axonemal, heavy chain 2 [Source:MGI Symbol;Acc:MGI:107731]|Heterozygous||A|T|31|39.0|Splice|Line Propagating
1780740|IGL00819|11|93931811|Disrupted splicing|||MGI:2143977|Mbtd1|mbt domain containing 1 [Source:MGI Symbol;Acc:MGI:2143977]|Heterozygous||A|G|29|39.0|Splice|Line Propagating
1780741|IGL00819|9|113983979|Disrupted splicing|||MGI:1919429|Fbxl2|F-box and leucine-rich repeat protein 2 [Source:MGI Symbol;Acc:MGI:1919429]|Heterozygous||A|G|25|39.0|Splice|Line Propagating
1780742|IGL00819|10|90997340|Disrupted splicing|||MGI:1306796|Apaf1|apoptotic peptidase activating factor 1 [Source:MGI Symbol;Acc:MGI:1306796]|Heterozygous|Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile.|G|T|20|38.5|Splice|Line Propagating
1782278|IGL00822|17|75151321|Y->C|0.99|Probably damaging|MGI:109151|Ltbp1|latent transforming growth factor beta binding protein 1 [Source:MGI Symbol;Acc:MGI:109151]|Heterozygous|Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract.|A|G|76|34.0|Non-synonymous|Line Propagating
1782279|IGL00822|11|20094367|R->W|1.0|Probably damaging|MGI:1913963|Actr2|ARP2 actin-related protein 2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1913963]|Heterozygous||G|A|67|38.0|Non-synonymous|Line Propagating
1782280|IGL00822|17|32470832|N->S||Benign|MGI:2445210|Cyp4f39|cytochrome P450, family 4, subfamily f, polypeptide 39 [Source:MGI Symbol;Acc:MGI:2445210]|Heterozygous||A|G|57|39.0|Non-synonymous|Line Propagating
1782281|IGL00822|19|25188409|E->Stop||N/A|MGI:1921396|Dock8|dedicator of cytokinesis 8 [Source:MGI Symbol;Acc:MGI:1921396]|Heterozygous|Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.|G|T|56|38.0|Non-synonymous|Line Propagating
1782282|IGL00822|5|8950046|F->L|0.11|Benign|MGI:97569|Abcb4|ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.|T|C|53|39.0|Non-synonymous|Line Propagating
1782283|IGL00822|18|7181817|L->M|0.99|Probably damaging|MGI:1922184|Armc4|armadillo repeat containing 4 [Source:MGI Symbol;Acc:MGI:1922184]|Heterozygous||A|T|48|40.0|Non-synonymous|Line Propagating
1782284|IGL00822|9|45125544|V->M|1.0|Probably damaging|MGI:106921|Scn2b|sodium channel, voltage-gated, type II, beta [Source:MGI Symbol;Acc:MGI:106921]|Heterozygous|Mice homozygous for a knock-out allele display decreased sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to pilocarpine-induced seizures but appear normal in other neurological tests.|G|A|45|38.0|Non-synonymous|Line Propagating
1782285|IGL00822|11|8443976|T->I|0.99|Probably damaging|MGI:2443012|Tns3|tensin 3 [Source:MGI Symbol;Acc:MGI:2443012]|Heterozygous|Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation.|G|A|38|34.0|Non-synonymous|Line Propagating
1782286|IGL00822|16|17836634|M->K|1.0|Probably damaging|MGI:1931324|Car15|carbonic anhydrase 15 [Source:MGI Symbol;Acc:MGI:1931324]|Heterozygous||A|T|38|38.5|Non-synonymous|Line Propagating
1782287|IGL00822|9|110766489|T->K|0.27|Benign|MGI:97268|Myl3|myosin, light polypeptide 3 [Source:MGI Symbol;Acc:MGI:97268]|Heterozygous||C|A|31|37.0|Non-synonymous|Line Propagating
1782288|IGL00822|8|60535758|S->P|0.22|Benign|MGI:1345167|Aadat|aminoadipate aminotransferase [Source:MGI Symbol;Acc:MGI:1345167]|Heterozygous|Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities.|T|C|29|40.0|Non-synonymous|Line Propagating
1782289|IGL00822|6|131301662|K->E|0.45|Possibly damaging|MGI:2141396|Styk1|serine/threonine/tyrosine kinase 1 [Source:MGI Symbol;Acc:MGI:2141396]|Heterozygous||T|C|25|40.0|Non-synonymous|Line Propagating
1782290|IGL00822|1|157564555|A->S||Benign|MGI:2148802|Sec16b|SEC16 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2148802]|Heterozygous||G|T|23|40.0|Non-synonymous|Line Propagating
1782291|IGL00822|19|5111513|V->E|1.0|Probably damaging|MGI:107953|Klc2|kinesin light chain 2 [Source:MGI Symbol;Acc:MGI:107953]|Heterozygous||A|T|21|38.0|Non-synonymous|Line Propagating
1782292|IGL00822|6|54944946|Y->C|1.0|Probably damaging|MGI:1341839|Nod1|nucleotide-binding oligomerization domain containing 1 [Source:MGI Symbol;Acc:MGI:1341839]|Heterozygous|Homozygous mutant mice were viable, fertile, and appeared normal in a specific-pathogen free environment.|T|C|19|37.0|Non-synonymous|Line Propagating
1782293|IGL00822|11|67361328|T->A|1.0|Probably damaging|MGI:1339967|Myh13|myosin, heavy polypeptide 13, skeletal muscle [Source:MGI Symbol;Acc:MGI:1339967]|Heterozygous||A|G|18|36.5|Non-synonymous|Line Propagating
1782294|IGL00822|12|88455516|I->T|0.85|Possibly damaging|MGI:1919363|Adck1|aarF domain containing kinase 1 [Source:MGI Symbol;Acc:MGI:1919363]|Heterozygous||T|C|17|40.0|Non-synonymous|Line Propagating
1782296|IGL00822|5|105608308|A->S||Benign|MGI:2140839|Lrrc8c|leucine rich repeat containing 8 family, member C [Source:MGI Symbol;Acc:MGI:2140839]|Heterozygous||G|T|16|40.0|Non-synonymous|Line Propagating
1782297|IGL00822|2|120514160|R->C|||MGI:1270153|Zfp106|zinc finger protein 106 [Source:MGI Symbol;Acc:MGI:1270153]|Heterozygous||G|A|14|40.0|Non-synonymous|Line Propagating
1782298|IGL00822|4|154980602|R->H|0.79|Possibly damaging|MGI:2387466|Pank4|pantothenate kinase 4 [Source:MGI Symbol;Acc:MGI:2387466]|Heterozygous||G|A|13|37.0|Non-synonymous|Line Propagating
1782299|IGL00822|7|102084368|I->V|0.99|Probably damaging|MGI:109527|Trpc2|transient receptor potential cation channel, subfamily C, member 2 [Source:MGI Symbol;Acc:MGI:109527]|Heterozygous|Homozygous null mice exhibit altered sexual and social behavior, including intermale mounting and a lack of aggressive behavior in the presence of invading males. Homozygotes for another allele show increased triglyceride levels in both males and females and increased cholesterol in males.|A|G|13|37.0|Non-synonymous|Line Propagating
1782301|IGL00822|3|158185474|V->A|0.97|Probably damaging|MGI:2676665|Lrrc7|leucine rich repeat containing 7 [Source:MGI Symbol;Acc:MGI:2676665]|Heterozygous||A|G|10|38.5|Non-synonymous|Line Propagating
1782302|IGL00822|7|46295880|S->N|0.44|Possibly damaging|MGI:1202064|Otog|otogelin [Source:MGI Symbol;Acc:MGI:1202064]|Heterozygous|Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities.|G|A|10|36.0|Non-synonymous|Line Propagating
1782307|IGL00822|15|98528853|Disrupted splicing|||MGI:1916862|2310037i24rik|RIKEN cDNA 2310037I24 gene [Source:MGI Symbol;Acc:MGI:1916862]|Heterozygous||T|C|56|40.0|Splice|Line Propagating
1782308|IGL00822|1|87845026|Disrupted splicing|||MGI:98227|Sag|retinal S-antigen [Source:MGI Symbol;Acc:MGI:98227]|Heterozygous||A|G|15|40.0|Splice|Line Propagating
1782309|IGL00822|11|72499353|Disrupted splicing|||MGI:1924827|Spns3|spinster homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1924827]|Heterozygous||A|T|10|33.0|Splice|Line Propagating
1786258|IGL00833|2|150472729|E->G|1.0|Probably damaging|MGI:3652219|Zfp345|zinc finger protein 345 [Source:MGI Symbol;Acc:MGI:3652219]|Heterozygous||T|C|77|41.0|Non-synonymous|Line Propagating
1786259|IGL00833|1|138078492|K->R|0.32|Benign|MGI:97810|Ptprc|protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]|Heterozygous|Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.|T|C|55|41.0|Non-synonymous|Line Propagating
1786260|IGL00833|3|96578560|D->A|0.99|Probably damaging|MGI:1917120|Polr3gl|polymerase (RNA) III (DNA directed) polypeptide G like [Source:MGI Symbol;Acc:MGI:1917120]|Heterozygous||T|G|46|40.0|Non-synonymous|Line Propagating
1786261|IGL00833|11|106231178|V->D|0.01|Benign|MGI:1919297|Ddx42|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 [Source:MGI Symbol;Acc:MGI:1919297]|Heterozygous||T|A|41|37.0|Non-synonymous|Line Propagating
1786262|IGL00833|4|116602736|V->A|0.99|Probably damaging|MGI:1355328|Nasp|nuclear autoantigenic sperm protein (histone-binding) [Source:MGI Symbol;Acc:MGI:1355328]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality before implantation.|A|G|40|40.0|Non-synonymous|Line Propagating
1786263|IGL00833|9|70338778|I->T|0.07|Benign|MGI:106621|Myo1e|myosin IE [Source:MGI Symbol;Acc:MGI:106621]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects.|T|C|36|39.0|Non-synonymous|Line Propagating
1786264|IGL00833|1|126027152|K->N|1.0|Probably damaging|MGI:2686394|Nckap5|NCK-associated protein 5 [Source:MGI Symbol;Acc:MGI:2686394]|Heterozygous||C|A|32|39.5|Non-synonymous|Line Propagating
1786265|IGL00833|2|154528875|Y->N|1.0|Probably damaging|MGI:1333833|Cbfa2t2|core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (human) [Source:MGI Symbol;Acc:MGI:1333833]|Heterozygous|Mice homozygous for a targeted null allele display reduced body size, decreased numbers of intestinal goblet, Paneth, and enteroendocrine cells, small intestinal inflammation, and strain background dependent partial postnatal lethality.|T|A|31|40.0|Non-synonymous|Line Propagating
1786266|IGL00833|12|118179580|F->L|1.0|Probably damaging|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|A|G|30|39.0|Non-synonymous|Line Propagating
1786267|IGL00833|2|113296849|I->N|0.72|Possibly damaging|MGI:1922525|Tmco5b|transmembrane and coiled-coil domains 5B [Source:MGI Symbol;Acc:MGI:1922525]|Heterozygous||T|A|30|39.0|Non-synonymous|Line Propagating
1786268|IGL00833|6|33971924|E->K|1.0|Probably damaging|MGI:1096376|Exoc4|exocyst complex component 4 [Source:MGI Symbol;Acc:MGI:1096376]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5.|G|A|24|39.0|Non-synonymous|Line Propagating
1786269|IGL00833|4|15964320|I->V||Benign|MGI:1351625|Nbn|nibrin [Source:MGI Symbol;Acc:MGI:1351625]|Heterozygous|Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone.|A|G|22|38.5|Non-synonymous|Line Propagating
1786270|IGL00833|18|5767774|T->A||Benign|MGI:1344313|Zeb1|zinc finger E-box binding homeobox 1 [Source:MGI Symbol;Acc:MGI:1344313]|Heterozygous|Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations also exhibit extensive skeletal abnormalities. Homozygotes generally die at birth.|A|G|21|39.0|Non-synonymous|Line Propagating
1786271|IGL00833|16|30309466|D->G|0.51|Possibly damaging|MGI:1096363|Gp5|glycoprotein 5 (platelet) [Source:MGI Symbol;Acc:MGI:1096363]|Heterozygous|Homozygotes for one null allele develop normally with no spontaneous bleeding while their platelets show normal thrombin responsiveness and lack a Bernard-Soulier phenotype. In contrast, homozygotes for a second null allele show a shorter bleeding time and platelet hyperresponsiveness to thrombin.|T|C|17|38.0|Non-synonymous|Line Propagating
1786272|IGL00833|2|154264275|Q->Stop||N/A|MGI:3624657, MGI:3582466, MGI:3767993, MGI:2149372, MGI:3762229, MGI:3526919, MGI:3582467, MGI:3759761, MGI:104739|4833413d08rik|RIKEN cDNA 4833413D08 gene [Source:MGI Symbol;Acc:MGI:3767993]|Heterozygous||C|T|17|41.0|Non-synonymous|Line Propagating
1786273|IGL00833|11|61217180|E->G|0.99|Probably damaging|MGI:1353451|Aldh3a1|aldehyde dehydrogenase family 3, subfamily A1 [Source:MGI Symbol;Acc:MGI:1353451]|Heterozygous|Homozygous mutation of this gene does not result in a phenotype.|A|G|15|36.0|Non-synonymous|Line Propagating
1786274|IGL00833|17|36187041|S->R||Benign|MGI:95959|H2-t3|histocompatibility 2, T region locus 3 [Source:MGI Symbol;Acc:MGI:95959]|Heterozygous|This locus contains the sole gene encoding the thymic leukemia antigen or TL antigen in b haplotype mice such as C57BL/6. Mice homozygous for a targeted knock-out are viable with normal reproduction.|T|G|15|40.0|Non-synonymous|Line Propagating
1786275|IGL00833|7|23340471|V->I||Benign|MGI:3056600|Nlrp4e|NLR family, pyrin domain containing 4E [Source:MGI Symbol;Acc:MGI:3056600]|Heterozygous||G|A|15|39.0|Non-synonymous|Line Propagating
1786276|IGL00833|8|3852800|M->R||Benign|MGI:2157948|Cd209e|CD209e antigen [Source:MGI Symbol;Acc:MGI:2157948]|Heterozygous||A|C|14|39.0|Non-synonymous|Line Propagating
1786277|IGL00833|12|8010101|V->A|0.02|Benign|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|T|C|13|36.0|Non-synonymous|Line Propagating
1786278|IGL00833|15|66688801|T->I|0.72|Possibly damaging|MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|C|T|12|37.5|Non-synonymous|Line Propagating
1786281|IGL00833|3|102876301|Disrupted splicing|||MGI:105931|Sycp1|synaptonemal complex protein 1 [Source:MGI Symbol;Acc:MGI:105931]|Heterozygous|Homozygous null mice display male and female infertility, azoospermia, small ovary, small testis and seminiferous tubules, absent ovarian follicles, and failure of synapse formation during meiosis.|A|G|74|40.0|Splice|Line Propagating
1786282|IGL00833|4|139393159|Disrupted splicing|||MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||G|A|20|40.0|Splice|Line Propagating
1787237|IGL00835|7|13909789|E->D|0.01|Benign|MGI:3645854|Sult2a4|sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 4 [Source:MGI Symbol;Acc:MGI:3645854]|Heterozygous||T|A|149|40.0|Non-synonymous|Line Propagating
1787238|IGL00835|10|18661358|F->L|0.15|Benign|MGI:106387|D10bwg1379e|DNA segment, Chr 10, Brigham & Women's Genetics 1379 expressed [Source:MGI Symbol;Acc:MGI:106387]|Heterozygous||A|G|84|39.5|Non-synonymous|Line Propagating
1787239|IGL00835|14|63135650|D->E|0.99|Probably damaging|MGI:88561|Ctsb|cathepsin B [Source:MGI Symbol;Acc:MGI:88561]|Heterozygous|Homozygotes for targeted null mutations are born normal without gross abnormalities. Homozygous mutant has resistance to induced pancreatitis. In combination with Ctsltm1Cptr, double homozygous mutant shows postnatal lethality due to wide neuronal degeneration in brain.|T|A|71|39.0|Non-synonymous|Line Propagating
1787240|IGL00835|6|12554934|V->G|1.0|Probably damaging|MGI:2685683|Thsd7a|thrombospondin, type I, domain containing 7A [Source:MGI Symbol;Acc:MGI:2685683]|Heterozygous||A|C|70|37.5|Non-synonymous|Line Propagating
1787241|IGL00835|17|80216526|C->G|0.99|Probably damaging|MGI:1914987|Ttc39d|tetratricopeptide repeat domain 39D [Source:MGI Symbol;Acc:MGI:1914987]|Heterozygous||T|G|57|40.0|Non-synonymous|Line Propagating
1787242|IGL00835|6|85622134|Y->C||Unknown|MGI:1934606|Alms1|Alstrom syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1934606]|Heterozygous|Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.|A|G|54|37.5|Non-synonymous|Line Propagating
1787243|IGL00835|16|45751456|T->I|1.0|Probably damaging|MGI:2444981|Phldb2|pleckstrin homology-like domain, family B, member 2 [Source:MGI Symbol;Acc:MGI:2444981]|Heterozygous||G|A|50|41.0|Non-synonymous|Line Propagating
1787244|IGL00835|7|35776038|H->N|0.95|Possibly damaging|MGI:1916378|Zfp507|zinc finger protein 507 [Source:MGI Symbol;Acc:MGI:1916378]|Heterozygous||G|T|49|38.0|Non-synonymous|Line Propagating
1787245|IGL00835|3|95490340|D->G|0.99|Probably damaging|MGI:88071|Arnt|aryl hydrocarbon receptor nuclear translocator [Source:MGI Symbol;Acc:MGI:88071]|Heterozygous|Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5.|A|G|45|39.0|Non-synonymous|Line Propagating
1787246|IGL00835|2|129609183|C->Y|1.0|Probably damaging|MGI:108563|Sirpa|signal-regulatory protein alpha [Source:MGI Symbol;Acc:MGI:108563]|Heterozygous|Homozygous null mice display mild thrombocytopenia, fatty livers, decreased body weight, decreased proportion of single positive T cells, enhanced peritoneal macrophage phagocytosis and impaired Langerhans cell migration.|G|A|42|39.5|Non-synonymous|Line Propagating
1787247|IGL00835|6|135733570|S->C|1.0|Probably damaging|MGI:95821|Grin2b|glutamate receptor, ionotropic, NMDA2B (epsilon 2) [Source:MGI Symbol;Acc:MGI:95821]|Heterozygous|Homozygotes for targeted null mutations exhibit impairments in suckling, in hippocampal long term depression, and in pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth.|T|A|41|37.0|Non-synonymous|Line Propagating
1787248|IGL00835|9|15007844|S->P|0.88|Possibly damaging|MGI:1860055|Panx1|pannexin 1 [Source:MGI Symbol;Acc:MGI:1860055]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired macrophage recruitment, YO-PRO-1 dye uptake, and ATP release by apoptotic thymocytes.|A|G|41|40.0|Non-synonymous|Line Propagating
1787249|IGL00835|11|80047675|T->A||Benign|MGI:1860086|Crlf3|cytokine receptor-like factor 3 [Source:MGI Symbol;Acc:MGI:1860086]|Heterozygous||T|C|40|39.5|Non-synonymous|Line Propagating
1787250|IGL00835|13|74160302|H->N|0.05|Benign|MGI:105064|Slc9a3|solute carrier family 9 (sodium/hydrogen exchanger), member 3 [Source:MGI Symbol;Acc:MGI:105064]|Heterozygous|Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.|C|A|40|40.0|Non-synonymous|Line Propagating
1787251|IGL00835|3|90241987|H->L|0.34|Benign|MGI:1916603|Creb3l4|cAMP responsive element binding protein 3-like 4 [Source:MGI Symbol;Acc:MGI:1916603]|Heterozygous|Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.|T|A|39|39.0|Non-synonymous|Line Propagating
1787252|IGL00835|5|32364172|E->K||Unknown|MGI:1922406|Plb1|phospholipase B1 [Source:MGI Symbol;Acc:MGI:1922406]|Heterozygous||G|A|38|38.5|Non-synonymous|Line Propagating
1787253|IGL00835|7|127920504|D->G|0.25|Benign|MGI:1915023|Myst1|MYST histone acetyltransferase 1 [Source:MGI Symbol;Acc:MGI:1915023]|Heterozygous|Mice homozygous for a null allele die prior to gastrulation.|A|G|36|40.0|Non-synonymous|Line Propagating
1787254|IGL00835|8|120010648|R->H|1.0|Probably damaging|MGI:1926142|Crispld2|cysteine-rich secretory protein LCCL domain containing 2 [Source:MGI Symbol;Acc:MGI:1926142]|Heterozygous||G|A|30|35.0|Non-synonymous|Line Propagating
1787255|IGL00835|1|71302733|D->G|1.0|Probably damaging|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|C|29|40.0|Non-synonymous|Line Propagating
1787256|IGL00835|6|67360567|V->D|1.0|Probably damaging|MGI:1270861|Il12rb2|interleukin 12 receptor, beta 2 [Source:MGI Symbol;Acc:MGI:1270861]|Heterozygous|Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors.|A|T|27|39.0|Non-synonymous|Line Propagating
1787257|IGL00835|10|79881052|T->A|0.86|Possibly damaging|MGI:893580|Prtn3|proteinase 3 [Source:MGI Symbol;Acc:MGI:893580]|Heterozygous||A|G|26|39.0|Non-synonymous|Line Propagating
1787258|IGL00835|10|100563380|R->Stop||N/A|MGI:2384917|Cep290|centrosomal protein 290 [Source:MGI Symbol;Acc:MGI:2384917]|Heterozygous|Mice homozygous for a spontaneous in-frame deletion display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration.|A|T|26|38.5|Non-synonymous|Line Propagating
1787259|IGL00835|6|135244092|M->K|0.02|Benign|MGI:1194499|Gsg1|germ cell-specific gene 1 [Source:MGI Symbol;Acc:MGI:1194499]|Heterozygous||A|T|25|40.0|Non-synonymous|Line Propagating
1787260|IGL00835|1|91115418|T->I|0.99|Probably damaging|MGI:1342770|Lrrfip1|leucine rich repeat (in FLII) interacting protein 1 [Source:MGI Symbol;Acc:MGI:1342770]|Heterozygous||C|T|23|39.0|Non-synonymous|Line Propagating
1787261|IGL00835|13|95362477|V->F|1.0|Probably damaging|MGI:1913799|Aggf1|angiogenic factor with G patch and FHA domains 1 [Source:MGI Symbol;Acc:MGI:1913799]|Heterozygous||C|A|23|39.0|Non-synonymous|Line Propagating
1787262|IGL00835|6|34799732|D->G|0.21|Benign|MGI:1923473|Agbl3|ATP/GTP binding protein-like 3 [Source:MGI Symbol;Acc:MGI:1923473]|Heterozygous||A|G|23|40.0|Non-synonymous|Line Propagating
1787263|IGL00835|11|102478549|A->S|0.99|Probably damaging|MGI:1918667|Gpatch8|G patch domain containing 8 [Source:MGI Symbol;Acc:MGI:1918667]|Heterozygous||C|A|21|37.0|Non-synonymous|Line Propagating
1787264|IGL00835|15|91844420|D->V||Unknown|MGI:1859618|Smgc|submandibular gland protein C [Source:MGI Symbol;Acc:MGI:1859618]|Heterozygous||A|T|21|38.0|Non-synonymous|Line Propagating
1787265|IGL00835|4|95837628|I->N|0.76|Possibly damaging|MGI:1922828|Fggy|FGGY carbohydrate kinase domain containing [Source:MGI Symbol;Acc:MGI:1922828]|Heterozygous||T|A|20|36.0|Non-synonymous|Line Propagating
1787266|IGL00835|6|92242789|E->G|0.9|Possibly damaging|MGI:98823|Trh|thyrotropin releasing hormone [Source:MGI Symbol;Acc:MGI:98823]|Heterozygous|Homozygous null mice exhibit teritary hypothyroidism, elevated TSH levels and hyperglycemia.|T|C|19|39.0|Non-synonymous|Line Propagating
1787267|IGL00835|15|101543378|I->N|0.82|Possibly damaging|MGI:2149248|Krt82|keratin 82 [Source:MGI Symbol;Acc:MGI:2149248]|Heterozygous||A|T|18|36.5|Non-synonymous|Line Propagating
1787268|IGL00835|3|26924262|E->V|1.0|Probably damaging|MGI:1918112|Spata16|spermatogenesis associated 16 [Source:MGI Symbol;Acc:MGI:1918112]|Heterozygous||A|T|15|38.0|Non-synonymous|Line Propagating
1787269|IGL00835|2|28672466|D->G|0.3|Benign|MGI:1929183|Tsc1|tuberous sclerosis 1 [Source:MGI Symbol;Acc:MGI:1929183]|Heterozygous|Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures.|A|G|14|39.0|Non-synonymous|Line Propagating
1787270|IGL00835|12|4833726|G->S|0.99|Probably damaging|MGI:1336205|Fkbp1b|FK506 binding protein 1b [Source:MGI Symbol;Acc:MGI:1336205]|Heterozygous|Homozygotes for a null allele display exercise-induced sudden cardiac death. Homozygotes for a second null allele show impaired glucose tolerance and glucose-driven insulin secretion. Homozygotes for a third null allele show Ca2+ dysregulation and male-specific cardiac hypertrophy and hypertension.|C|T|13|37.0|Non-synonymous|Line Propagating
1787271|IGL00835|4|134564532|Q->L|1.0|Probably damaging|MGI:2446214|Man1c1|mannosidase, alpha, class 1C, member 1 [Source:MGI Symbol;Acc:MGI:2446214]|Heterozygous||T|A|13|39.0|Non-synonymous|Line Propagating
1787272|IGL00835|4|145160652|D->E|0.53|Possibly damaging|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||A|T|12|39.0|Non-synonymous|Line Propagating
1787273|IGL00835|7|30633667|D->E|0.22|Benign|MGI:99253|Etv2|ets variant gene 2 [Source:MGI Symbol;Acc:MGI:99253]|Heterozygous|Mice homozygous for null alleles die during organogenesis and lack blood vessels. In addition mice homozygous for one allele lack endocardial cells, while mice homozygous for another allele lack blood cells.|A|T|12|35.5|Non-synonymous|Line Propagating
1787274|IGL00835|18|35214239|L->F|0.1|Benign|MGI:88274, MGI:2389174|Ctnna1,lrrtm2|leucine rich repeat transmembrane neuronal 2 [Source:MGI Symbol;Acc:MGI:2389174],catenin (cadherin associated protein), alpha 1 [Source:MGI Symbol;Acc:MGI:88274]|Heterozygous|NO_PHENOTYPE,Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis.|T|A|10|39.0|Non-synonymous|Line Propagating
1787279|IGL00835|12|98747524|Disrupted splicing|||MGI:1919824|Zc3h14|zinc finger CCCH type containing 14 [Source:MGI Symbol;Acc:MGI:1919824]|Heterozygous||T|A|45|38.0|Splice|Line Propagating
1787280|IGL00835|10|56089846|Disrupted splicing|||MGI:2442827|D630037f22rik|RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]|Heterozygous|Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.|A|G|31|40.0|Splice|Line Propagating
1787281|IGL00835|4|126757071|Disrupted splicing|||MGI:2140475|Au040320|expressed sequence AU040320 [Source:MGI Symbol;Acc:MGI:2140475]|Heterozygous||A|G|26|37.0|Splice|Line Propagating
1787282|IGL00835|12|103141890|Disrupted splicing|||MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|G|24|35.0|Splice|Line Propagating
1787283|IGL00835|1|128235632|Disrupted splicing|||MGI:2448514|R3hdm1|R3H domain 1 (binds single-stranded nucleic acids) [Source:MGI Symbol;Acc:MGI:2448514]|Heterozygous||T|C|23|39.0|Splice|Line Propagating
1787284|IGL00835|8|55940977|Disrupted splicing|||MGI:95749|Glra3|glycine receptor, alpha 3 subunit [Source:MGI Symbol;Acc:MGI:95749]|Heterozygous|Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord.|A|G|23|40.0|Splice|Line Propagating
1788730|IGL00838|6|129911359|G->C|0.89|Possibly damaging|MGI:101903|Klra5|killer cell lectin-like receptor, subfamily A, member 5 [Source:MGI Symbol;Acc:MGI:101903]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function.|C|A|188|40.0|Non-synonymous|Line Propagating
1788731|IGL00838|6|129054316|V->I|0.83|Possibly damaging|MGI:2442965|Klrb1f|killer cell lectin-like receptor subfamily B member 1F [Source:MGI Symbol;Acc:MGI:2442965]|Heterozygous||G|A|174|40.0|Non-synonymous|Line Propagating
1788732|IGL00838|X|100972118|I->N|0.91|Possibly damaging|MGI:1933237|Tex11|testis expressed gene 11 [Source:MGI Symbol;Acc:MGI:1933237]|Heterozygous|Miche homozygous for a knockout allele exhibit abnormal male meiosis. Mice homozygous for a conditional knockout exhibit male infertility and reduced female fecundity due to abnormal meiosis following cre recombination.|A|T|165|40.0|Non-synonymous|Line Propagating
1788733|IGL00838|13|11568503|I->N|1.0|Probably damaging|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|A|T|68|39.0|Non-synonymous|Line Propagating
1788734|IGL00838|4|49490352|M->K|1.0|Probably damaging|MGI:106642|Baat|bile acid-Coenzyme A: amino acid N-acyltransferase [Source:MGI Symbol;Acc:MGI:106642]|Heterozygous||A|T|60|40.0|Non-synonymous|Line Propagating
1788735|IGL00838|3|154618475|C->S|0.92|Possibly damaging|MGI:88527|Cryz|crystallin, zeta [Source:MGI Symbol;Acc:MGI:88527]|Heterozygous||T|A|56|39.0|Non-synonymous|Line Propagating
1788736|IGL00838|5|21661581|V->E|1.0|Probably damaging|MGI:1914461|Armc10|armadillo repeat containing 10 [Source:MGI Symbol;Acc:MGI:1914461]|Heterozygous||T|A|54|38.5|Non-synonymous|Line Propagating
1788737|IGL00838|1|93402757|N->K|0.98|Probably damaging|MGI:3052714|Ano7|anoctamin 7 [Source:MGI Symbol;Acc:MGI:3052714]|Heterozygous||C|A|50|37.5|Non-synonymous|Line Propagating
1788738|IGL00838|3|103625626|M->K|0.6|Possibly damaging|MGI:1859544|Syt6|synaptotagmin VI [Source:MGI Symbol;Acc:MGI:1859544]|Heterozygous||T|A|42|37.0|Non-synonymous|Line Propagating
1788739|IGL00838|13|76134791|L->P|||MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||T|C|38|39.0|Non-synonymous|Line Propagating
1788740|IGL00838|14|24475863|N->K|0.69|Possibly damaging|MGI:2681836|Polr3a|polymerase (RNA) III (DNA directed) polypeptide A [Source:MGI Symbol;Acc:MGI:2681836]|Heterozygous||A|T|35|38.0|Non-synonymous|Line Propagating
1788741|IGL00838|19|25175459|R->Stop||N/A|MGI:1921396|Dock8|dedicator of cytokinesis 8 [Source:MGI Symbol;Acc:MGI:1921396]|Heterozygous|Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.|A|T|35|39.0|Non-synonymous|Line Propagating
1788742|IGL00838|4|100333743|V->G|0.96|Probably damaging|MGI:1347520|Ror1|receptor tyrosine kinase-like orphan receptor 1 [Source:MGI Symbol;Acc:MGI:1347520]|Heterozygous|Mice homozygous for disruptions in this gene die within the first day after birth from respiratory defects.|T|G|33|37.0|Non-synonymous|Line Propagating
1788743|IGL00838|2|104201303|K->N|1.0|Probably damaging|MGI:2181743|D430041d05rik|RIKEN cDNA D430041D05 gene [Source:MGI Symbol;Acc:MGI:2181743]|Heterozygous||T|A|30|39.5|Non-synonymous|Line Propagating
1788744|IGL00838|9|74155129|E->V|1.0|Probably damaging|MGI:3583957|Wdr72|WD repeat domain 72 [Source:MGI Symbol;Acc:MGI:3583957]|Heterozygous||A|T|27|39.0|Non-synonymous|Line Propagating
1788745|IGL00838|11|70134212|M->L||Benign|MGI:2385729|Mgl2|macrophage galactose N-acetyl-galactosamine specific lectin 2 [Source:MGI Symbol;Acc:MGI:2385729]|Heterozygous||A|T|24|38.5|Non-synonymous|Line Propagating
1788746|IGL00838|6|87588693|T->A|0.05|Benign|MGI:1929676|Prokr1|prokineticin receptor 1 [Source:MGI Symbol;Acc:MGI:1929676]|Heterozygous|Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart.|T|C|21|37.0|Non-synonymous|Line Propagating
1788747|IGL00838|3|107897558|N->S||Benign|MGI:1309466|Gstm5|glutathione S-transferase, mu 5 [Source:MGI Symbol;Acc:MGI:1309466]|Heterozygous||A|G|19|38.0|Non-synonymous|Line Propagating
1788748|IGL00838|4|43021767|A->T|0.83|Possibly damaging|MGI:1861452|Pigo|phosphatidylinositol glycan anchor biosynthesis, class O [Source:MGI Symbol;Acc:MGI:1861452]|Heterozygous||C|T|15|37.0|Non-synonymous|Line Propagating
1788749|IGL00838|10|23900779|F->L|1.0|Probably damaging|MGI:108395|Vnn1|vanin 1 [Source:MGI Symbol;Acc:MGI:108395]|Heterozygous|Mice homozygous for disruptions of this gene develop normally and so no abnormalities in the maturation of lymphoid organs. However, membrane bound pantetheinase is absent in livers and kidneys resuulting in an absence of cysteamine in these organs.|T|C|14|37.5|Non-synonymous|Line Propagating
1788750|IGL00838|16|31989173|D->G|0.62|Possibly damaging|MGI:2443596|Senp5|SUMO/sentrin specific peptidase 5 [Source:MGI Symbol;Acc:MGI:2443596]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
1788751|IGL00838|6|83338331|R->C|1.0|Probably damaging|MGI:2442631|Mobkl1b|MOB1, Mps One Binder kinase activator-like 1B (yeast) [Source:MGI Symbol;Acc:MGI:2442631]|Heterozygous||C|T|11|39.0|Non-synonymous|Line Propagating
1788752|IGL00838|1|75410390|I->V|0.99|Probably damaging|MGI:109282|Speg|SPEG complex locus [Source:MGI Symbol;Acc:MGI:109282]|Heterozygous|Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.|A|G|10|36.5|Non-synonymous|Line Propagating
1788757|IGL00838|6|149005363|Disrupted splicing|||MGI:2444273|Dennd5b|DENN/MADD domain containing 5B [Source:MGI Symbol;Acc:MGI:2444273]|Heterozygous||T|C|13|40.0|Splice|Line Propagating
1789228|IGL00839|5|3850017|D->E||Benign|MGI:3045299|4932412h11rik|RIKEN cDNA 4932412H11 gene [Source:MGI Symbol;Acc:MGI:3045299]|Heterozygous||T|A|106|40.0|Non-synonymous|Line Propagating
1789229|IGL00839|X|163926955|Y->C|||MGI:1889383|Ap1s2|adaptor-related protein complex 1, sigma 2 subunit [Source:MGI Symbol;Acc:MGI:1889383]|Heterozygous||A|G|106|39.0|Non-synonymous|Line Propagating
1789230|IGL00839|X|76397349|C->S|1.0|Probably damaging|MGI:3588232|4930428d18rik|RIKEN cDNA 4930428D18 gene [Source:MGI Symbol;Acc:MGI:3588232]|Heterozygous||T|A|83|38.0|Non-synonymous|Line Propagating
1789231|IGL00839|16|56000602|Y->Stop||N/A|MGI:1915443|Rpl24|ribosomal protein L24 [Source:MGI Symbol;Acc:MGI:1915443]|Heterozygous|Heterozygous mutants have short kinked tail, ventral spotting, malocclusion, white feet, and anomalies of the spine and eyes; homozygotes die in utero.|T|A|81|39.0|Non-synonymous|Line Propagating
1789232|IGL00839|4|143812723|T->A|0.99|Probably damaging|MGI:3650237|Gm13084|predicted gene 13084 [Source:MGI Symbol;Acc:MGI:3650237]|Heterozygous||T|C|78|38.0|Non-synonymous|Line Propagating
1789233|IGL00839|X|142339952|N->K|0.77|Possibly damaging|MGI:1354713|Acsl4|acyl-CoA synthetase long-chain family member 4 [Source:MGI Symbol;Acc:MGI:1354713]|Heterozygous|Female heterozygotes for a targeted null mutation exhibit accumulation of prostaglandins in the uterus, reduced fertility with few and small litters, and very low transmission of the mutant allele.|A|T|65|39.0|Non-synonymous|Line Propagating
1789234|IGL00839|10|111291510|S->R|0.02|Benign|MGI:2443807|Osbpl8|oxysterol binding protein-like 8 [Source:MGI Symbol;Acc:MGI:2443807]|Heterozygous||T|A|64|39.0|Non-synonymous|Line Propagating
1789235|IGL00839|2|132251420|V->I||Benign|MGI:97503|Pcna|proliferating cell nuclear antigen [Source:MGI Symbol;Acc:MGI:97503]|Heterozygous||C|T|62|38.0|Non-synonymous|Line Propagating
1789236|IGL00839|7|18722968|I->V||Benign|MGI:1891354|Psg22|pregnancy-specific glycoprotein 22 [Source:MGI Symbol;Acc:MGI:1891354]|Heterozygous||A|G|61|38.0|Non-synonymous|Line Propagating
1789238|IGL00839|19|29301647|P->S|1.0|Probably damaging|MGI:96629|Jak2|Janus kinase 2 [Source:MGI Symbol;Acc:MGI:96629]|Heterozygous|Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.|C|T|56|39.5|Non-synonymous|Line Propagating
1789239|IGL00839|3|103099694|E->G|0.69|Possibly damaging|MGI:88015|Ampd1|adenosine monophosphate deaminase 1 [Source:MGI Symbol;Acc:MGI:88015]|Heterozygous||A|G|51|40.0|Non-synonymous|Line Propagating
1789240|IGL00839|5|124010751|T->A|1.0|Probably damaging|MGI:1916724|Vps37b|vacuolar protein sorting 37B (yeast) [Source:MGI Symbol;Acc:MGI:1916724]|Heterozygous||T|C|50|38.0|Non-synonymous|Line Propagating
1789241|IGL00839|4|136011359|R->C|1.0|Probably damaging|MGI:1351315|Tceb3|transcription elongation factor B (SIII), polypeptide 3 [Source:MGI Symbol;Acc:MGI:1351315]|Heterozygous|Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects.|G|A|38|37.0|Non-synonymous|Line Propagating
1789242|IGL00839|8|21734697|L->H|1.0|Probably damaging|MGI:3630383|Defa24|defensin, alpha, 24 [Source:MGI Symbol;Acc:MGI:3630383]|Heterozygous||T|A|36|39.0|Non-synonymous|Line Propagating
1789243|IGL00839|5|149618454|A->D|0.91|Possibly damaging|MGI:105053|Hsph1|heat shock 105kDa/110kDa protein 1 [Source:MGI Symbol;Acc:MGI:105053]|Heterozygous||G|T|33|40.0|Non-synonymous|Line Propagating
1789244|IGL00839|1|17621523|H->R|1.0|Probably damaging|MGI:1934659|Pi15|peptidase inhibitor 15 [Source:MGI Symbol;Acc:MGI:1934659]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
1789245|IGL00839|14|32660916|S->T|0.91|Possibly damaging|MGI:3588196|3425401b19rik|RIKEN cDNA 3425401B19 gene [Source:MGI Symbol;Acc:MGI:3588196]|Heterozygous||A|T|27|39.0|Non-synonymous|Line Propagating
1789246|IGL00839|3|83043291|R->S|0.28|Benign|MGI:99501|Fgb|fibrinogen beta chain [Source:MGI Symbol;Acc:MGI:99501]|Heterozygous||T|A|27|35.0|Non-synonymous|Line Propagating
1789247|IGL00839|6|114480322|T->I|0.99|Probably damaging|MGI:107619|Hrh1|histamine receptor H1 [Source:MGI Symbol;Acc:MGI:107619]|Heterozygous|Homozygous null mutants show decrease in exploratory behavior, diurnal activity, aggression, anxiety, serotonin release, respiratory reaction to temperature and leptin response. Natural variants affect B. pertussis induced vasoactive amine sensitization.|C|T|26|39.0|Non-synonymous|Line Propagating
1789248|IGL00839|6|118405291|V->M||Benign|MGI:2446132|Bms1|BMS1 homolog, ribosome assembly protein (yeast) [Source:MGI Symbol;Acc:MGI:2446132]|Heterozygous||C|T|26|37.0|Non-synonymous|Line Propagating
1789249|IGL00839|8|3542299|D->G|0.58|Possibly damaging|MGI:1354723|Pnpla6|patatin-like phospholipase domain containing 6 [Source:MGI Symbol;Acc:MGI:1354723]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration.|A|G|23|38.0|Non-synonymous|Line Propagating
1789250|IGL00839|11|76233278|H->L|0.01|Benign|MGI:1914451|Glod4|glyoxalase domain containing 4 [Source:MGI Symbol;Acc:MGI:1914451]|Heterozygous||T|A|21|39.0|Non-synonymous|Line Propagating
1789251|IGL00839|1|54667435|N->D|0.01|Benign|MGI:3045243|Ankrd44|ankyrin repeat domain 44 [Source:MGI Symbol;Acc:MGI:3045243]|Heterozygous||T|C|20|37.0|Non-synonymous|Line Propagating
1789252|IGL00839|2|9952917|D->E|0.99|Probably damaging|MGI:2388097|Taf3|TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:2388097]|Heterozygous||A|T|20|35.5|Non-synonymous|Line Propagating
1789253|IGL00839|2|76215385|F->S|0.99|Probably damaging|MGI:3036251|Pde11a|phosphodiesterase 11A [Source:MGI Symbol;Acc:MGI:3036251]|Heterozygous||A|G|20|39.5|Non-synonymous|Line Propagating
1789254|IGL00839|2|37816982|V->A|0.6|Possibly damaging|MGI:2442794|Dennd1a|DENN/MADD domain containing 1A [Source:MGI Symbol;Acc:MGI:2442794]|Heterozygous||A|G|19|38.0|Non-synonymous|Line Propagating
1789255|IGL00839|8|78333756|T->I|0.71|Possibly damaging|MGI:1920551|Ttc29|tetratricopeptide repeat domain 29 [Source:MGI Symbol;Acc:MGI:1920551]|Heterozygous||C|T|18|38.5|Non-synonymous|Line Propagating
1789256|IGL00839|19|38698562|Y->C|1.0|Probably damaging|MGI:1921305|Plce1|phospholipase C, epsilon 1 [Source:MGI Symbol;Acc:MGI:1921305]|Heterozygous|Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.|A|G|17|36.0|Non-synonymous|Line Propagating
1789257|IGL00839|11|74437448|Y->N|1.0|Probably damaging|MGI:3028623|Rap1gap2|RAP1 GTPase activating protein 2 [Source:MGI Symbol;Acc:MGI:3028623]|Heterozygous||A|T|16|38.0|Non-synonymous|Line Propagating
1789258|IGL00839|15|55045778|C->Stop||N/A|MGI:2443028|Taf2|TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:2443028]|Heterozygous||A|T|16|38.5|Non-synonymous|Line Propagating
1789259|IGL00839|10|41731093|E->G|0.96|Probably damaging|MGI:1915511|Cep57l1|centrosomal protein 57-like 1 [Source:MGI Symbol;Acc:MGI:1915511]|Heterozygous||T|C|14|37.5|Non-synonymous|Line Propagating
1789260|IGL00839|2|155045673|F->I||Benign|MGI:87853|A|nonagouti [Source:MGI Symbol;Acc:MGI:87853]|Heterozygous|Agouti acts in the hair follicles, primarily affecting the relative amount and distribution of yellow pigment (phaeomelanin) and black pigment (eumelanin) in hairs of the coat. Some alleles show lethal effects or are associated with obesity.|T|A|12|39.0|Non-synonymous|Line Propagating
1789261|IGL00839|11|117714185|T->A|0.1|Benign|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||A|G|10|38.0|Non-synonymous|Line Propagating
1789266|IGL00839|10|33471606|Disrupted splicing|||MGI:1924007|Trdn|triadin [Source:MGI Symbol;Acc:MGI:1924007]|Heterozygous|Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells.|T|C|84|40.0|Splice|Line Propagating
1789267|IGL00839|17|40239256|Disrupted splicing|||MGI:102552|Crisp3|cysteine-rich secretory protein 3 [Source:MGI Symbol;Acc:MGI:102552]|Heterozygous||T|G|28|38.0|Splice|Line Propagating
1789268|IGL00839|6|4531095|Disrupted splicing|||MGI:88468|Col1a2|collagen, type I, alpha 2 [Source:MGI Symbol;Acc:MGI:88468]|Heterozygous|Animals homozygous for a mutation in this gene exhibit reduced body size, reduced bone density and cortical bone thickness, fractured and deformed long bones, dorsal kyphosis, and droopy wrists. Older mutants develop an abnormal gait.|C|T|28|38.5|Splice|Line Propagating
1789269|IGL00839|15|102320547|Disrupted splicing|||MGI:2146156|Espl1|extra spindle poles-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146156]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation. Conditional null mice display abnormal mitosis during liver regeneration.|T|C|25|38.0|Splice|Line Propagating
1789728|IGL00840|3|40724877|S->P||Benign|MGI:1920583|Slc25a31|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 [Source:MGI Symbol;Acc:MGI:1920583]|Heterozygous|Male mice homozygous for a null allele exhibit infertility, arrested meiosis and increased apoptosis of the spermatocytes.|T|C|94|40.0|Non-synonymous|Line Propagating
1789729|IGL00840|4|46161307|W->R|1.0|Probably damaging|MGI:1891840|Ncbp1|nuclear cap binding protein subunit 1 [Source:MGI Symbol;Acc:MGI:1891840]|Heterozygous||T|A|91|39.0|Non-synonymous|Line Propagating
1789730|IGL00840|17|85458123|L->Stop||N/A|MGI:1920832|1700106n22rik|RIKEN cDNA 1700106N22 gene [Source:MGI Symbol;Acc:MGI:1920832]|Heterozygous||T|G|63|39.0|Non-synonymous|Line Propagating
1789731|IGL00840|2|142176658|N->I|0.67|Possibly damaging|MGI:1920149|Macrod2|MACRO domain containing 2 [Source:MGI Symbol;Acc:MGI:1920149]|Heterozygous||A|T|60|39.0|Non-synonymous|Line Propagating
1789732|IGL00840|18|63927327|E->G|0.99|Probably damaging|MGI:1860197|Wdr7|WD repeat domain 7 [Source:MGI Symbol;Acc:MGI:1860197]|Heterozygous||A|G|58|39.0|Non-synonymous|Line Propagating
1789734|IGL00840|1|6833594|E->V|1.0|Probably damaging|MGI:2446700|St18|suppression of tumorigenicity 18 [Source:MGI Symbol;Acc:MGI:2446700]|Heterozygous||A|T|51|39.0|Non-synonymous|Line Propagating
1789735|IGL00840|15|82404490|T->S||Benign|MGI:88602|Cyp2d10|cytochrome P450, family 2, subfamily d, polypeptide 10 [Source:MGI Symbol;Acc:MGI:88602]|Heterozygous||T|A|48|37.5|Non-synonymous|Line Propagating
1789736|IGL00840|5|150980787|I->F|0.98|Probably damaging|MGI:1101771|Kl|klotho [Source:MGI Symbol;Acc:MGI:1101771]|Heterozygous|Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen.|A|T|45|38.0|Non-synonymous|Line Propagating
1789737|IGL00840|6|34394106|S->P|1.0|Probably damaging|MGI:1915111|Akr1b10|aldo-keto reductase family 1, member B10 (aldose reductase) [Source:MGI Symbol;Acc:MGI:1915111]|Heterozygous||T|C|44|38.0|Non-synonymous|Line Propagating
1789738|IGL00840|1|164179524|M->T|0.07|Benign|MGI:88382|F5|coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]|Heterozygous||T|C|43|40.0|Non-synonymous|Line Propagating
1789739|IGL00840|13|61251578|Y->C|1.0|Probably damaging|MGI:1860275|Cts8|cathepsin 8 [Source:MGI Symbol;Acc:MGI:1860275]|Heterozygous||T|C|40|38.0|Non-synonymous|Line Propagating
1789740|IGL00840|7|24723506|L->H|0.96|Probably damaging|MGI:3643098|Gm4763|predicted gene 4763 [Source:MGI Symbol;Acc:MGI:3643098]|Heterozygous||A|T|38|39.0|Non-synonymous|Line Propagating
1789741|IGL00840|8|85957587|S->R|0.45|Possibly damaging|MGI:97578|Phkb|phosphorylase kinase beta [Source:MGI Symbol;Acc:MGI:97578]|Heterozygous||T|A|38|37.5|Non-synonymous|Line Propagating
1789742|IGL00840|4|41379562|T->A||Benign|MGI:2149543|Ubap1|ubiquitin-associated protein 1 [Source:MGI Symbol;Acc:MGI:2149543]|Heterozygous||A|G|36|38.0|Non-synonymous|Line Propagating
1789743|IGL00840|1|5070015|V->I|||MGI:1929866|Rgs20|regulator of G-protein signaling 20 [Source:MGI Symbol;Acc:MGI:1929866]|Heterozygous||C|T|33|38.0|Non-synonymous|Line Propagating
1789744|IGL00840|13|54720152|W->R|0.01|Benign|MGI:2687323|Cdhr2|cadherin-related family member 2 [Source:MGI Symbol;Acc:MGI:2687323]|Heterozygous||T|C|33|38.0|Non-synonymous|Line Propagating
1789745|IGL00840|15|77961869|N->K|0.05|Benign|MGI:1933181|Eif3d|eukaryotic translation initiation factor 3, subunit D [Source:MGI Symbol;Acc:MGI:1933181]|Heterozygous||A|T|33|38.0|Non-synonymous|Line Propagating
1789746|IGL00840|X|10208709|I->V|0.04|Benign|MGI:1344037|Rpgr|retinitis pigmentosa GTPase regulator [Source:MGI Symbol;Acc:MGI:1344037]|Heterozygous|Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age.|T|C|31|40.0|Non-synonymous|Line Propagating
1789747|IGL00840|15|94282482|Y->C|1.0|Probably damaging|MGI:2660628|Adamts20|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 [Source:MGI Symbol;Acc:MGI:2660628]|Heterozygous|Homozygous mutants have a white belt across the back in the midtrunk region and a white belly patch that coalesces to form a white belt.|T|C|29|38.0|Non-synonymous|Line Propagating
1789748|IGL00840|4|134806559|S->P|1.0|Probably damaging|MGI:1913396|Tmem57|transmembrane protein 57 [Source:MGI Symbol;Acc:MGI:1913396]|Heterozygous||A|G|26|39.5|Non-synonymous|Line Propagating
1789749|IGL00840|6|34799159|V->A|0.62|Possibly damaging|MGI:1923473|Agbl3|ATP/GTP binding protein-like 3 [Source:MGI Symbol;Acc:MGI:1923473]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
1789750|IGL00840|17|30790941|V->M|1.0|Probably damaging|MGI:107714|Dnahc8|dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]|Heterozygous||G|A|20|39.0|Non-synonymous|Line Propagating
1789751|IGL00840|1|156434196|V->G|1.0|Probably damaging|MGI:104665|Soat1|sterol O-acyltransferase 1 [Source:MGI Symbol;Acc:MGI:104665]|Heterozygous|Mutants producing no protein or a truncated protein show depletion of cholesterol esters in adrenal cortex and peritoneal macrophages. Additionally, null mutants have reduced eye openings due to atrophy of meibomian glands.|A|C|19|37.0|Non-synonymous|Line Propagating
1789752|IGL00840|10|19005126|V->L|1.0|Probably damaging|MGI:1196377|Tnfaip3|tumor necrosis factor, alpha-induced protein 3 [Source:MGI Symbol;Acc:MGI:1196377]|Heterozygous|Homozygous null mice display partial postnatal lethality, runting, and severe inflammation in the liver, kidneys, joints, intestines, and bone marrow.|C|A|19|39.0|Non-synonymous|Line Propagating
1789753|IGL00840|17|78765437|L->P|1.0|Probably damaging|MGI:2444098|Heatr5b|HEAT repeat containing 5B [Source:MGI Symbol;Acc:MGI:2444098]|Heterozygous||A|G|17|36.0|Non-synonymous|Line Propagating
1789754|IGL00840|18|5063555|V->A||Benign|MGI:2147319|Svil|supervillin [Source:MGI Symbol;Acc:MGI:2147319]|Heterozygous||T|C|17|36.0|Non-synonymous|Line Propagating
1789755|IGL00840|16|55844232|I->V|1.0|Probably damaging|MGI:2686598|Fam55c|family with sequence similarity 55, member C [Source:MGI Symbol;Acc:MGI:2686598]|Heterozygous||T|C|16|39.0|Non-synonymous|Line Propagating
1789756|IGL00840|7|98051659|S->G|||MGI:104510|Myo7a|myosin VIIA [Source:MGI Symbol;Acc:MGI:104510]|Heterozygous|Homozygotes for spontaneous and chemically induced mutations exhibit deafness, hyperactivity, head-shaking, and circling, with degeneration of the organ of Corti, spiral ganglion, stria vascularis in the cochlea, and vestibular ganglion in the labyrinth.|T|C|16|40.0|Non-synonymous|Line Propagating
1789757|IGL00840|7|118852798|Y->H|0.03|Benign|MGI:1913606|2310008h09rik|RIKEN cDNA 2310008H09 gene [Source:MGI Symbol;Acc:MGI:1913606]|Heterozygous||A|G|16|37.5|Non-synonymous|Line Propagating
1789758|IGL00840|3|88057983|I->V||Benign|MGI:2180167|Apoa1bp|apolipoprotein A-I binding protein [Source:MGI Symbol;Acc:MGI:2180167]|Heterozygous||T|C|15|39.0|Non-synonymous|Line Propagating
1789759|IGL00840|4|141768003|G->V|1.0|Probably damaging|MGI:2442146|Dnajc16|DnaJ (Hsp40) homolog, subfamily C, member 16 [Source:MGI Symbol;Acc:MGI:2442146]|Heterozygous||C|A|15|37.0|Non-synonymous|Line Propagating
1789760|IGL00840|1|130813214|V->M||Benign|MGI:1927803|Fcamr|Fc receptor, IgA, IgM, high affinity [Source:MGI Symbol;Acc:MGI:1927803]|Heterozygous|Homozygous null mice have enhanced germinal center formation, affinity maturation and memory induction of IgG3 producing B cells after immunization with T cell-independent antigens.|G|A|13|35.0|Non-synonymous|Line Propagating
1789763|IGL00840|17|88753736|Disrupted splicing|||MGI:96783|Lhcgr|luteinizing hormone/choriogonadotropin receptor [Source:MGI Symbol;Acc:MGI:96783]|Heterozygous|Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle.|T|C|18|37.0|Splice|Line Propagating
1790242|IGL00841|3|145362309|D->G|1.0|Probably damaging|MGI:1918605|Col24a1|collagen, type XXIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1918605]|Heterozygous||A|G|99|37.0|Non-synonymous|Line Propagating
1790244|IGL00841|12|77365321|H->Q||Benign|MGI:1858901|Fut8|fucosyltransferase 8 [Source:MGI Symbol;Acc:MGI:1858901]|Heterozygous|Homozygous null mutation of this gene results in partial postnatal lethality, growth retardation, and progressive emphysema-like changes that include enlarged alveoli, increased lung capacity and compliance, and alveolar cell apoptosis. Postnatal survival is sensitive to genetic background.|T|A|57|38.0|Non-synonymous|Line Propagating
1790245|IGL00841|14|55642727|K->M|0.98|Probably damaging|MGI:1921390|Tm9sf1|transmembrane 9 superfamily member 1 [Source:MGI Symbol;Acc:MGI:1921390]|Heterozygous||T|A|47|34.0|Non-synonymous|Line Propagating
1790246|IGL00841|8|93302987|D->V|0.82|Possibly damaging|MGI:88378|Ces1g|carboxylesterase 1G [Source:MGI Symbol;Acc:MGI:88378]|Heterozygous||T|A|41|38.0|Non-synonymous|Line Propagating
1790247|IGL00841|16|96819877|L->F|1.0|Probably damaging|MGI:1196281|Dscam|Down syndrome cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1196281]|Heterozygous|Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.|G|A|39|37.0|Non-synonymous|Line Propagating
1790248|IGL00841|8|93039536|S->Stop||N/A|MGI:3648919|Ces1a|carboxylesterase 1A [Source:MGI Symbol;Acc:MGI:3648919]|Heterozygous||G|T|39|38.0|Non-synonymous|Line Propagating
1790249|IGL00841|11|23285094|F->V|1.0|Probably damaging|MGI:2144013|Xpo1|exportin 1, CRM1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2144013]|Heterozygous||T|G|35|34.0|Non-synonymous|Line Propagating
1790250|IGL00841|15|9139487|S->R||Benign|MGI:1351663|Skp2|S-phase kinase-associated protein 2 (p45) [Source:MGI Symbol;Acc:MGI:1351663]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight, enlarged cell and nuclear sizes, polyploidy, reduced cell growth rate, overduplication of centrosomes, increased apoptosis rate, delayed wound healing, and aberrant immunoglobulin V(D)J recombination.|A|C|31|35.0|Non-synonymous|Line Propagating
1790251|IGL00841|14|103529995|Q->L||Benign|MGI:1891228|Scel|sciellin [Source:MGI Symbol;Acc:MGI:1891228]|Heterozygous|Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function.|A|T|30|37.0|Non-synonymous|Line Propagating
1790252|IGL00841|8|35590886|N->K|1.0|Probably damaging|MGI:1098644|Mfhas1|malignant fibrous histiocytoma amplified sequence 1 [Source:MGI Symbol;Acc:MGI:1098644]|Heterozygous||T|A|28|38.0|Non-synonymous|Line Propagating
1790253|IGL00841|5|150422724|I->N||Benign|MGI:2443895|Fry|furry homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443895]|Heterozygous||T|A|24|35.0|Non-synonymous|Line Propagating
1790254|IGL00841|11|69331303|I->V|0.99|Probably damaging|MGI:1336208|Kcnab3|potassium voltage-gated channel, shaker-related subfamily, beta member 3 [Source:MGI Symbol;Acc:MGI:1336208]|Heterozygous||A|G|19|36.0|Non-synonymous|Line Propagating
1790256|IGL00841|19|6986478|W->R|1.0|Probably damaging|MGI:106199|Vegfb|vascular endothelial growth factor B [Source:MGI Symbol;Acc:MGI:106199]|Heterozygous|Mice homozygous for disruptions in this gene display cardiac defects, such as atrial conduction abnormalities, smaller hearts, coronary vasculature anomalies and impaired recovery from induced cardiac ischemia, and fail to develop pulmonary hypertension in response to chronic hypoxia.|A|G|17|38.0|Non-synonymous|Line Propagating
1790257|IGL00841|2|181096909|T->A||Unknown|MGI:1309503|Kcnq2|potassium voltage-gated channel, subfamily Q, member 2 [Source:MGI Symbol;Acc:MGI:1309503]|Heterozygous|Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.|T|C|15|39.0|Non-synonymous|Line Propagating
1790258|IGL00841|2|126383769|S->P|0.98|Probably damaging|MGI:1859664|Atp8b4|ATPase, class I, type 8B, member 4 [Source:MGI Symbol;Acc:MGI:1859664]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
1790259|IGL00841|7|142382681|S->A|1.0|Probably damaging|MGI:88562|Ctsd|cathepsin D [Source:MGI Symbol;Acc:MGI:88562]|Heterozygous|Mice homozygous for a null mutation die in a state of anorexia at ~P26, displaying severe atrophy of the intestinal mucosa, and massive destruction of the thymus and spleen with loss of T and B cells; near the terminal stage, affected mice have seizures, display retinal atrophy, and become blind.|A|C|12|36.5|Non-synonymous|Line Propagating
1790261|IGL00841|5|44063116|Disrupted splicing|||MGI:1100886|Prom1|prominin 1 [Source:MGI Symbol;Acc:MGI:1100886]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology.|A|T|201|39.0|Splice|Line Propagating
1790262|IGL00841|13|96417830|Disrupted splicing|||MGI:2444730|Ankdd1b|ankyrin repeat and death domain containing 1B [Source:MGI Symbol;Acc:MGI:2444730]|Heterozygous||T|C|49|37.0|Splice|Line Propagating
1791676|IGL00844|4|136339205|I->M|0.08|Benign|MGI:1891692|Hnrnpr|heterogeneous nuclear ribonucleoprotein R [Source:MGI Symbol;Acc:MGI:1891692]|Heterozygous||A|G|87|39.0|Non-synonymous|Line Propagating
1791677|IGL00844|14|20531686|M->K||Benign|MGI:107163|Ppp3cb|protein phosphatase 3, catalytic subunit, beta isoform [Source:MGI Symbol;Acc:MGI:107163]|Heterozygous|Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells.|A|T|74|39.0|Non-synonymous|Line Propagating
1791678|IGL00844|5|32007307|F->L|0.99|Probably damaging|MGI:1333875|Bre|brain and reproductive organ-expressed protein [Source:MGI Symbol;Acc:MGI:1333875]|Heterozygous||T|A|73|38.0|Non-synonymous|Line Propagating
1791679|IGL00844|12|85843826|V->A|1.0|Probably damaging|MGI:2443657|Ttll5|tubulin tyrosine ligase-like family, member 5 [Source:MGI Symbol;Acc:MGI:2443657]|Heterozygous||T|C|56|38.0|Non-synonymous|Line Propagating
1791680|IGL00844|7|17973670|D->E|0.23|Benign|MGI:1914246|Ceacam11|carcinoembryonic antigen-related cell adhesion molecule 11 [Source:MGI Symbol;Acc:MGI:1914246]|Heterozygous||T|G|50|40.0|Non-synonymous|Line Propagating
1791681|IGL00844|2|83923771|N->D||Benign|MGI:1919111|Zswim2|zinc finger, SWIM domain containing 2 [Source:MGI Symbol;Acc:MGI:1919111]|Heterozygous||T|C|37|38.0|Non-synonymous|Line Propagating
1791682|IGL00844|X|49497754|Q->H|1.0|Probably damaging|MGI:1922654|Arhgap36|Rho GTPase activating protein 36 [Source:MGI Symbol;Acc:MGI:1922654]|Heterozygous||G|T|35|37.0|Non-synonymous|Line Propagating
1791683|IGL00844|17|43617196|M->T||Benign|MGI:2679727|Tdrd6|tudor domain containing 6 [Source:MGI Symbol;Acc:MGI:2679727]|Heterozygous||A|G|34|39.5|Non-synonymous|Line Propagating
1791685|IGL00844|6|137414239|H->N|0.98|Probably damaging|MGI:1097152|Ptpro|protein tyrosine phosphatase, receptor type, O [Source:MGI Symbol;Acc:MGI:1097152]|Heterozygous|Mice homozygous for one allele display impaired glomerular filtration due to podocyte structural anomalies and a predisposition for hypertension. Mice homozygous for a second allele exhibit susceptibility to pharmacologically induced seizures.|C|A|32|38.5|Non-synonymous|Line Propagating
1791686|IGL00844|17|37009622|Q->K|0.4|Benign|MGI:99204|Zfp57|zinc finger protein 57 [Source:MGI Symbol;Acc:MGI:99204]|Heterozygous|Mice homozygous for a knock-out allele exhibit some postnatal lethality with abnormal imprinting and fetal lethality observed in the homozygous offspring of homozygous females.|C|A|30|39.0|Non-synonymous|Line Propagating
1791687|IGL00844|14|51049756|I->V|0.03|Benign|MGI:3528583|Rnase11|ribonuclease, RNase A family, 11 (non-active) [Source:MGI Symbol;Acc:MGI:3528583]|Heterozygous||T|C|27|38.0|Non-synonymous|Line Propagating
1791688|IGL00844|X|13128446|S->A|0.18|Benign|MGI:894681|Usp9x|ubiquitin specific peptidase 9, X chromosome [Source:MGI Symbol;Acc:MGI:894681]|Heterozygous||T|G|27|38.0|Non-synonymous|Line Propagating
1791689|IGL00844|6|129538635|F->L|0.26|Benign|MGI:1914980|Gabarapl1|gamma-aminobutyric acid (GABA) A receptor-associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1914980]|Heterozygous||T|C|26|39.0|Non-synonymous|Line Propagating
1791690|IGL00844|5|115479626|F->L||Unknown|MGI:1922637|Sirt4|sirtuin 4 (silent mating type information regulation 2 homolog) 4 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1922637]|Heterozygous||A|G|25|40.0|Non-synonymous|Line Propagating
1791691|IGL00844|X|100806593|H->Q|1.0|Probably damaging|MGI:1888986|Dlg3|discs, large homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1888986]|Heterozygous|Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning.|C|A|22|39.0|Non-synonymous|Line Propagating
1791693|IGL00844|7|100929449|V->A||Benign|MGI:2673002|Arhgef17|Rho guanine nucleotide exchange factor (GEF) 17 [Source:MGI Symbol;Acc:MGI:2673002]|Heterozygous||A|G|21|36.0|Non-synonymous|Line Propagating
1791694|IGL00844|14|32662999|C->Stop||N/A|MGI:3588196|3425401b19rik|RIKEN cDNA 3425401B19 gene [Source:MGI Symbol;Acc:MGI:3588196]|Heterozygous||A|T|19|37.0|Non-synonymous|Line Propagating
1791695|IGL00844|14|31147066|D->G|||MGI:2178742|Stab1|stabilin 1 [Source:MGI Symbol;Acc:MGI:2178742]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|T|C|18|39.0|Non-synonymous|Line Propagating
1791696|IGL00844|6|136560681|V->A||Benign|MGI:1858965|Atf7ip|activating transcription factor 7 interacting protein [Source:MGI Symbol;Acc:MGI:1858965]|Heterozygous||T|C|18|35.5|Non-synonymous|Line Propagating
1791697|IGL00844|13|81540119|D->G|0.99|Probably damaging|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|C|17|39.0|Non-synonymous|Line Propagating
1791698|IGL00844|12|3905622|L->Q|0.88|Possibly damaging|MGI:1261827|Dnmt3a|DNA methyltransferase 3A [Source:MGI Symbol;Acc:MGI:1261827]|Heterozygous|Homozygotes for a targeted null mutation become runted and die around four weeks of age.|T|A|14|39.0|Non-synonymous|Line Propagating
1791699|IGL00844|2|91167868|S->A|1.0|Probably damaging|MGI:2444672|Madd|MAP-kinase activating death domain [Source:MGI Symbol;Acc:MGI:2444672]|Heterozygous||A|C|14|40.0|Non-synonymous|Line Propagating
1791700|IGL00844|2|166094492|S->P|0.16|Benign|MGI:1919293|Sulf2|sulfatase 2 [Source:MGI Symbol;Acc:MGI:1919293]|Heterozygous||A|G|12|34.5|Non-synonymous|Line Propagating
1791701|IGL00844|4|46875711|V->A|1.0|Probably damaging|MGI:2386030|Gabbr2|gamma-aminobutyric acid (GABA) B receptor, 2 [Source:MGI Symbol;Acc:MGI:2386030]|Heterozygous|Homozygous mutation of this gene results in clonic seizures, hyperactivity, hyperalgesia in response to thermal or mechanical stimuli, increased anxiety, and decreased depression-related behavior.|A|G|11|37.0|Non-synonymous|Line Propagating
1791706|IGL00844|12|78664568|Disrupted splicing|||MGI:109602|Gphn|gephyrin [Source:MGI Symbol;Acc:MGI:109602]|Heterozygous|Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth.|T|C|126|39.0|Splice|Line Propagating
1791707|IGL00844|1|17621540|Disrupted splicing|||MGI:1934659|Pi15|peptidase inhibitor 15 [Source:MGI Symbol;Acc:MGI:1934659]|Heterozygous||T|C|29|39.0|Splice|Line Propagating
1791708|IGL00844|5|96534853|Disrupted splicing|||MGI:2385368|Fras1|Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.|A|G|17|35.0|Splice|Line Propagating
1793729|IGL00848|7|65303194|Q->R||Benign|MGI:98759|Tjp1|tight junction protein 1 [Source:MGI Symbol;Acc:MGI:98759]|Heterozygous||T|C|183|39.0|Non-synonymous|Line Propagating
1793730|IGL00848|5|145862465|I->N|1.0|Probably damaging|MGI:88609|Cyp3a11|cytochrome P450, family 3, subfamily a, polypeptide 11 [Source:MGI Symbol;Acc:MGI:88609]|Heterozygous||A|T|111|39.0|Non-synonymous|Line Propagating
1793731|IGL00848|2|164256101|E->G|0.61|Possibly damaging|MGI:3583778|Svs3b|seminal vesicle secretory protein 3B [Source:MGI Symbol;Acc:MGI:3583778]|Heterozygous||T|C|103|37.0|Non-synonymous|Line Propagating
1793732|IGL00848|5|21683193|M->K|0.02|Benign|MGI:2140885|Napepld|N-acyl phosphatidylethanolamine phospholipase D [Source:MGI Symbol;Acc:MGI:2140885]|Heterozygous|Mice homozygous for a null mutation are viable and healthy, but have abnormal brain levels of N-acyl ethanolamines and N-acyl phosphatidylethanolamines.|A|T|100|38.0|Non-synonymous|Line Propagating
1793733|IGL00848|10|84680377|D->G|0.97|Probably damaging|MGI:1917678|Polr3b|polymerase (RNA) III (DNA directed) polypeptide B [Source:MGI Symbol;Acc:MGI:1917678]|Heterozygous||A|G|96|40.0|Non-synonymous|Line Propagating
1793734|IGL00848|9|4331184|S->R|1.0|Probably damaging|MGI:1916399|Kbtbd3|kelch repeat and BTB (POZ) domain containing 3 [Source:MGI Symbol;Acc:MGI:1916399]|Heterozygous||T|A|83|38.0|Non-synonymous|Line Propagating
1793735|IGL00848|5|50001949|G->R|1.0|Probably damaging|MGI:1917943|Gpr125|G protein-coupled receptor 125 [Source:MGI Symbol;Acc:MGI:1917943]|Heterozygous|Homozygous mutant mice are fertile and grossly normal.|C|T|80|37.0|Non-synonymous|Line Propagating
1793736|IGL00848|1|131164436|Q->Stop||N/A|MGI:109342|Eif2d|eukaryotic translation initiation factor 2D [Source:MGI Symbol;Acc:MGI:109342]|Heterozygous||C|T|76|35.0|Non-synonymous|Line Propagating
1793737|IGL00848|11|108472060|D->G|0.5|Possibly damaging|MGI:1923673|Ccdc46|coiled-coil domain containing 46 [Source:MGI Symbol;Acc:MGI:1923673]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
1793738|IGL00848|1|104934256|H->Y|0.06|Benign|MGI:1346069|Cdh20|cadherin 20 [Source:MGI Symbol;Acc:MGI:1346069]|Heterozygous||C|T|68|39.0|Non-synonymous|Line Propagating
1793739|IGL00848|5|99222378|F->L|0.99|Probably damaging|MGI:2443755|Rasgef1b|RasGEF domain family, member 1B [Source:MGI Symbol;Acc:MGI:2443755]|Heterozygous||A|G|68|38.0|Non-synonymous|Line Propagating
1793740|IGL00848|7|131246724|E->G|1.0|Probably damaging|MGI:1918645|5430419d17rik|RIKEN cDNA 5430419D17 gene [Source:MGI Symbol;Acc:MGI:1918645]|Heterozygous||A|G|63|39.0|Non-synonymous|Line Propagating
1793741|IGL00848|1|181105125|D->V|1.0|Probably damaging|MGI:1914709|Nvl|nuclear VCP-like [Source:MGI Symbol;Acc:MGI:1914709]|Heterozygous||T|A|61|37.0|Non-synonymous|Line Propagating
1793742|IGL00848|1|106339448|T->M|1.0|Probably damaging|MGI:2138327|Phlpp1|PH domain and leucine rich repeat protein phosphatase 1 [Source:MGI Symbol;Acc:MGI:2138327]|Heterozygous|Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.|C|T|59|39.0|Non-synonymous|Line Propagating
1793743|IGL00848|15|45113228|I->T||Benign|MGI:1914748|Kcnv1|potassium channel, subfamily V, member 1 [Source:MGI Symbol;Acc:MGI:1914748]|Heterozygous|At weaning, homozygous mutant mice exhibit tetany, tremors and ataxia.|A|G|59|38.0|Non-synonymous|Line Propagating
1793744|IGL00848|15|34508729|T->A|0.02|Benign|MGI:1914974|Pop1|processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914974]|Heterozygous||A|G|57|37.0|Non-synonymous|Line Propagating
1793745|IGL00848|3|9565239|S->T|0.03|Benign|MGI:2180715|Zfp704|zinc finger protein 704 [Source:MGI Symbol;Acc:MGI:2180715]|Heterozygous|Mice homozygous for a reporter (null) allele are viable and fertile with no obvious developmental defects.|A|T|55|37.0|Non-synonymous|Line Propagating
1793746|IGL00848|13|55159170|E->G|0.9|Possibly damaging|MGI:95525|Fgfr4|fibroblast growth factor receptor 4 [Source:MGI Symbol;Acc:MGI:95525]|Heterozygous|Homozygotes for a targeted mutation are viable, healthy and overtly normal, except for a 10% weight reduction at weaning. Mice doubly homozygous for disruptions of Fgfr3 and Fgfr4 show novel phenotypes not seen in either single mutant, including dwarfism and defective respiratory alveogenesis.|A|G|51|37.0|Non-synonymous|Line Propagating
1793748|IGL00848|17|74696393|Q->Stop||N/A|MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|C|T|49|39.0|Non-synonymous|Line Propagating
1793749|IGL00848|4|3871459|N->S|0.48|Possibly damaging|MGI:97052|Mos|Moloney sarcoma oncogene [Source:MGI Symbol;Acc:MGI:97052]|Heterozygous|Mutations that inactivate the gene result in female infertility and an increased susceptibility to tumors. Oocytes progress through meiosis II without arrest and undergo spontaneous parthenogenetic activation. Male mice are fertile and show no spermatogenic defects.|T|C|46|35.0|Non-synonymous|Line Propagating
1793750|IGL00848|13|41012623|E->D|0.03|Benign|MGI:1915333|Pak1ip1|PAK1 interacting protein 1 [Source:MGI Symbol;Acc:MGI:1915333]|Heterozygous||A|T|41|37.0|Non-synonymous|Line Propagating
1793751|IGL00848|1|139831232|T->S|0.16|Benign|MGI:3611575|Cfhr2|complement factor H-related 2 [Source:MGI Symbol;Acc:MGI:3611575]|Heterozygous||T|A|38|38.0|Non-synonymous|Line Propagating
1793752|IGL00848|5|100893144|M->L|0.09|Benign|MGI:3603816|Agpat9|1-acylglycerol-3-phosphate O-acyltransferase 9 [Source:MGI Symbol;Acc:MGI:3603816]|Heterozygous||A|T|37|37.0|Non-synonymous|Line Propagating
1793753|IGL00848|1|82340444|L->P|0.92|Possibly damaging|MGI:1924117|Rhbdd1|rhomboid domain containing 1 [Source:MGI Symbol;Acc:MGI:1924117]|Heterozygous||T|C|36|38.0|Non-synonymous|Line Propagating
1793754|IGL00848|1|172110688|C->S|0.12|Benign|MGI:1334462|Copa|coatomer protein complex subunit alpha [Source:MGI Symbol;Acc:MGI:1334462]|Heterozygous||T|A|35|38.0|Non-synonymous|Line Propagating
1793755|IGL00848|9|14727411|T->P|0.78|Possibly damaging|MGI:3041167|Piwil4|piwi-like homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3041167]|Heterozygous||T|G|33|39.0|Non-synonymous|Line Propagating
1793756|IGL00848|19|46590157|I->F|0.99|Probably damaging|MGI:2137678|Sfxn2|sideroflexin 2 [Source:MGI Symbol;Acc:MGI:2137678]|Heterozygous||A|T|32|38.0|Non-synonymous|Line Propagating
1793757|IGL00848|15|35114622|E->V|0.01|Benign|MGI:1928487|Stk3|serine/threonine kinase 3 (Ste20, yeast homolog) [Source:MGI Symbol;Acc:MGI:1928487]|Heterozygous|Mice homozygous for a null allele are viable and fertile with no morphological abnormalities.|T|A|30|39.5|Non-synonymous|Line Propagating
1793758|IGL00848|3|27451509|L->Q|1.0|Probably damaging|MGI:1919257|Fndc3b|fibronectin type III domain containing 3B [Source:MGI Symbol;Acc:MGI:1919257]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis.|A|T|29|38.0|Non-synonymous|Line Propagating
1793759|IGL00848|18|4380717|H->Y|0.03|Benign|MGI:1914690|Mtpap|mitochondrial poly(A) polymerase [Source:MGI Symbol;Acc:MGI:1914690]|Heterozygous||C|T|28|39.0|Non-synonymous|Line Propagating
1793760|IGL00848|3|93322897|K->N||Unknown|MGI:3046938|Hrnr|hornerin [Source:MGI Symbol;Acc:MGI:3046938]|Heterozygous||A|T|28|40.0|Non-synonymous|Line Propagating
1793761|IGL00848|2|120512727|N->K|||MGI:1270153|Zfp106|zinc finger protein 106 [Source:MGI Symbol;Acc:MGI:1270153]|Heterozygous||A|T|26|39.0|Non-synonymous|Line Propagating
1793762|IGL00848|1|106376255|R->H|1.0|Probably damaging|MGI:2138327|Phlpp1|PH domain and leucine rich repeat protein phosphatase 1 [Source:MGI Symbol;Acc:MGI:2138327]|Heterozygous|Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.|G|A|25|37.0|Non-synonymous|Line Propagating
1793763|IGL00848|1|131757528|S->F|0.45|Possibly damaging|MGI:2444594|Slc26a9|solute carrier family 26, member 9 [Source:MGI Symbol;Acc:MGI:2444594]|Heterozygous|Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion.|C|T|25|37.0|Non-synonymous|Line Propagating
1793764|IGL00848|19|17119118|K->I|1.0|Probably damaging|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||A|T|24|37.5|Non-synonymous|Line Propagating
1793765|IGL00848|14|51987427|V->M|1.0|Probably damaging|MGI:2685515|Arhgef40|Rho guanine nucleotide exchange factor (GEF) 40 [Source:MGI Symbol;Acc:MGI:2685515]|Heterozygous||G|A|23|37.0|Non-synonymous|Line Propagating
1793767|IGL00848|9|75289181|E->G|0.6|Possibly damaging|MGI:2442485|Myo5c|myosin VC [Source:MGI Symbol;Acc:MGI:2442485]|Heterozygous||A|G|23|38.0|Non-synonymous|Line Propagating
1793768|IGL00848|15|5235108|I->V|0.02|Benign|MGI:104311|Ptger4|prostaglandin E receptor 4 (subtype EP4) [Source:MGI Symbol;Acc:MGI:104311]|Heterozygous|Most homozygous targeted null mutants die shortly after birth due to failed closure of the ductus arteriosis. Survivors show decreased migration of Langerhans cells to lymph nodes, contact hypersensitivity and decreased incidence of induced arthritis.|T|C|18|38.0|Non-synonymous|Line Propagating
1793769|IGL00848|7|126371242|E->G|0.3|Benign|MGI:1920908|Spns1|spinster homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1920908]|Heterozygous|Homozygous mutation results in lethality before weaning.|T|C|17|37.0|Non-synonymous|Line Propagating
1793770|IGL00848|11|61302233|V->M|0.61|Possibly damaging|MGI:3588190|Slc47a2|solute carrier family 47, member 2 [Source:MGI Symbol;Acc:MGI:3588190]|Heterozygous||C|T|16|37.5|Non-synonymous|Line Propagating
1793771|IGL00848|11|120444270|S->P||Benign|MGI:2384781|Tspan10|tetraspanin 10 [Source:MGI Symbol;Acc:MGI:2384781]|Heterozygous||T|C|13|39.0|Non-synonymous|Line Propagating
1793772|IGL00848|5|144176398|E->G||Benign|MGI:3036247|Lmtk2|lemur tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:3036247]|Heterozygous||A|G|13|37.0|Non-synonymous|Line Propagating
1793774|IGL00848|1|32472752|A->V||Benign|MGI:2159649|Khdrbs2|KH domain containing, RNA binding, signal transduction associated 2 [Source:MGI Symbol;Acc:MGI:2159649]|Heterozygous||C|T|11|38.0|Non-synonymous|Line Propagating
1793775|IGL00848|5|112871485|T->I|1.0|Probably damaging|MGI:1921626|Myo18b|myosin XVIIIb [Source:MGI Symbol;Acc:MGI:1921626]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.|G|A|10|39.5|Non-synonymous|Line Propagating
1793776|IGL00848|7|140942404|G->D|1.0|Probably damaging|MGI:2444047|Athl1|ATH1, acid trehalase-like 1 (yeast) [Source:MGI Symbol;Acc:MGI:2444047]|Heterozygous||G|A|10|38.0|Non-synonymous|Line Propagating
1793781|IGL00848|3|96056973|Disrupted splicing|||MGI:891965|Vps45|vacuolar protein sorting 45 (yeast) [Source:MGI Symbol;Acc:MGI:891965]|Heterozygous||G|T|96|38.0|Splice|Line Propagating
1793782|IGL00848|15|103298749|Disrupted splicing|||MGI:1929063|Copz1|coatomer protein complex, subunit zeta 1 [Source:MGI Symbol;Acc:MGI:1929063]|Heterozygous||T|A|42|37.0|Splice|Line Propagating
1793783|IGL00848|10|82662165|Disrupted splicing|||MGI:1922032|Glt8d2|glycosyltransferase 8 domain containing 2 [Source:MGI Symbol;Acc:MGI:1922032]|Heterozygous||C|T|38|38.0|Splice|Line Propagating
1793784|IGL00848|19|44192279|Disrupted splicing|||MGI:1352448|Pkd2l1|polycystic kidney disease 2-like 1 [Source:MGI Symbol;Acc:MGI:1352448]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.|A|T|32|35.5|Splice|Line Propagating
1793785|IGL00848|11|85051181|Disrupted splicing|||MGI:2144475|Usp32|ubiquitin specific peptidase 32 [Source:MGI Symbol;Acc:MGI:2144475]|Heterozygous||T|C|29|40.0|Splice|Line Propagating
1793786|IGL00848|10|43967818|Disrupted splicing|||MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||A|C|24|38.0|Splice|Line Propagating
1795297|IGL00851|7|120340007|F->S|1.0|Probably damaging|MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||T|C|71|38.0|Non-synonymous|Line Propagating
1795298|IGL00851|12|55709575|D->G|0.67|Possibly damaging|MGI:1931050|Ralgapa1|Ral GTPase activating protein, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:1931050]|Heterozygous||T|C|60|39.0|Non-synonymous|Line Propagating
1795299|IGL00851|16|37631695|S->F|1.0|Probably damaging|MGI:96078|Hgd|homogentisate 1, 2-dioxygenase [Source:MGI Symbol;Acc:MGI:96078]|Heterozygous|Mutations in this gene result in high levels of urinary homogentisic acid.|C|T|54|39.0|Non-synonymous|Line Propagating
1795300|IGL00851|5|3591739|T->A|0.45|Possibly damaging|MGI:2442653|C030048b08rik|RIKEN cDNA C030048B08 gene [Source:MGI Symbol;Acc:MGI:2442653]|Heterozygous||T|C|45|39.0|Non-synonymous|Line Propagating
1795301|IGL00851|8|93123117|I->F||Benign|MGI:95420|Ces1c|carboxylesterase 1C [Source:MGI Symbol;Acc:MGI:95420]|Heterozygous|Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin.|T|A|45|38.0|Non-synonymous|Line Propagating
1795302|IGL00851|11|101423790|E->G|||MGI:1916934|Aarsd1|alanyl-tRNA synthetase domain containing 1 [Source:MGI Symbol;Acc:MGI:1916934]|Heterozygous||T|C|37|39.0|Non-synonymous|Line Propagating
1795303|IGL00851|X|135843751|T->A|0.99|Probably damaging|MGI:2442071|Gprasp2|G protein-coupled receptor associated sorting protein 2 [Source:MGI Symbol;Acc:MGI:2442071]|Heterozygous||A|G|37|39.0|Non-synonymous|Line Propagating
1795304|IGL00851|1|107159705|N->Y|1.0|Probably damaging|MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||T|A|32|37.0|Non-synonymous|Line Propagating
1795305|IGL00851|6|46484072|Y->H||Benign|MGI:1914047|Cntnap2|contactin associated protein-like 2 [Source:MGI Symbol;Acc:MGI:1914047]|Heterozygous|Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.|T|C|32|35.0|Non-synonymous|Line Propagating
1795306|IGL00851|2|118728251|I->T|0.12|Benign|MGI:107465|Plcb2|phospholipase C, beta 2 [Source:MGI Symbol;Acc:MGI:107465]|Heterozygous|Homozygous mutant mice showed an increased sensitivity to both bacterial and viral infections and exhibited abnormal taste perception in which sweet, umami, and bitter stimuli could not be sensed.|A|G|29|35.0|Non-synonymous|Line Propagating
1795308|IGL00851|3|95125580|E->V|1.0|Probably damaging|MGI:1355285|Tmod4|tropomodulin 4 [Source:MGI Symbol;Acc:MGI:1355285]|Heterozygous||A|T|22|33.0|Non-synonymous|Line Propagating
1795309|IGL00851|X|129971547|K->R||Unknown|MGI:1858500|Diap2|diaphanous homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1858500]|Heterozygous||A|G|20|39.0|Non-synonymous|Line Propagating
1795310|IGL00851|11|67217910|T->M|1.0|Probably damaging|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|C|T|19|39.0|Non-synonymous|Line Propagating
1795311|IGL00851|17|33581964|M->L|1.0|Probably damaging|MGI:107711|Myo1f|myosin IF [Source:MGI Symbol;Acc:MGI:107711]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion.|A|T|19|36.0|Non-synonymous|Line Propagating
1795312|IGL00851|11|63070400|Y->H||Benign|MGI:1918312|Tekt3|tektin 3 [Source:MGI Symbol;Acc:MGI:1918312]|Heterozygous|Mice homozygous for a null allele exhibit defective sperm motility.|T|C|18|34.5|Non-synonymous|Line Propagating
1795313|IGL00851|18|80765910|E->A|0.96|Probably damaging|MGI:1354757|Atp9b|ATPase, class II, type 9B [Source:MGI Symbol;Acc:MGI:1354757]|Heterozygous||T|G|18|38.0|Non-synonymous|Line Propagating
1795314|IGL00851|10|69874833|I->T|0.33|Benign|MGI:88026|Ank3|ankyrin 3, epithelial [Source:MGI Symbol;Acc:MGI:88026]|Heterozygous|Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, uncoordination, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months.|T|C|17|38.0|Non-synonymous|Line Propagating
1795315|IGL00851|1|150582301|K->E||Benign|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||T|C|16|36.0|Non-synonymous|Line Propagating
1795316|IGL00851|16|23028830|D->G|0.99|Probably damaging|MGI:3027157|Kng2|kininogen 2 [Source:MGI Symbol;Acc:MGI:3027157]|Heterozygous||T|C|13|40.0|Non-synonymous|Line Propagating
1796315|IGL00857|2|3502759|Y->C|0.99|Probably damaging|MGI:1354164|Hspa14|heat shock protein 14 [Source:MGI Symbol;Acc:MGI:1354164]|Heterozygous||T|C|115|40.0|Non-synonymous|Line Propagating
1796316|IGL00857|2|24003783|D->G|0.06|Benign|MGI:2153181|Hnmt|histamine N-methyltransferase [Source:MGI Symbol;Acc:MGI:2153181]|Heterozygous||T|C|76|40.0|Non-synonymous|Line Propagating
1796317|IGL00857|4|59617735|N->K||Unknown|MGI:1919729|Hsdl2|hydroxysteroid dehydrogenase like 2 [Source:MGI Symbol;Acc:MGI:1919729]|Heterozygous||T|A|61|40.0|Non-synonymous|Line Propagating
1796318|IGL00857|14|73364616|N->S||Benign|MGI:1309517|Itm2b|integral membrane protein 2B [Source:MGI Symbol;Acc:MGI:1309517]|Heterozygous|Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory.|T|C|41|36.0|Non-synonymous|Line Propagating
1796319|IGL00857|3|98711543|E->V|0.27|Benign|MGI:96234|Hsd3b2|hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Source:MGI Symbol;Acc:MGI:96234]|Heterozygous||T|A|41|39.0|Non-synonymous|Line Propagating
1796320|IGL00857|17|81647879|T->S||Benign|MGI:107956|Slc8a1|solute carrier family 8 (sodium/calcium exchanger), member 1 [Source:MGI Symbol;Acc:MGI:107956]|Heterozygous|Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.|T|A|37|37.0|Non-synonymous|Line Propagating
1796321|IGL00857|2|76752755|T->I||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|G|A|35|39.0|Non-synonymous|Line Propagating
1796322|IGL00857|6|87056163|N->K|1.0|Probably damaging|MGI:95698|Gfpt1|glutamine fructose-6-phosphate transaminase 1 [Source:MGI Symbol;Acc:MGI:95698]|Heterozygous||T|A|32|40.0|Non-synonymous|Line Propagating
1796323|IGL00857|9|85324753|V->L|0.46|Possibly damaging|MGI:2670964|Fam46a|family with sequence similarity 46, member A [Source:MGI Symbol;Acc:MGI:2670964]|Heterozygous||C|A|31|40.0|Non-synonymous|Line Propagating
1796324|IGL00857|2|148782250|D->G|0.43|Possibly damaging|MGI:1925859|8030411f24rik|RIKEN cDNA 8030411F24 gene [Source:MGI Symbol;Acc:MGI:1925859]|Heterozygous||A|G|30|39.5|Non-synonymous|Line Propagating
1796325|IGL00857|10|41528695|T->A|0.52|Possibly damaging|MGI:1859568|Cd164|CD164 antigen [Source:MGI Symbol;Acc:MGI:1859568]|Heterozygous||A|G|28|39.0|Non-synonymous|Line Propagating
1796326|IGL00857|14|30350681|N->K|1.0|Probably damaging|MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|A|T|27|37.0|Non-synonymous|Line Propagating
1796327|IGL00857|9|54376320|Y->C|0.26|Benign|MGI:2444630|Dmxl2|Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630]|Heterozygous||T|C|27|37.0|Non-synonymous|Line Propagating
1796328|IGL00857|3|97662343|A->V|0.01|Benign|MGI:1336185|Prkab2|protein kinase, AMP-activated, beta 2 non-catalytic subunit [Source:MGI Symbol;Acc:MGI:1336185]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia.|C|T|26|35.5|Non-synonymous|Line Propagating
1796329|IGL00857|4|48610435|V->A|1.0|Probably damaging|MGI:1926810|Tmeff1|transmembrane protein with EGF-like and two follistatin-like domains 1 [Source:MGI Symbol;Acc:MGI:1926810]|Heterozygous||T|C|25|40.0|Non-synonymous|Line Propagating
1796330|IGL00857|4|109054002|I->F|0.98|Probably damaging|MGI:1201386|Nrd1|nardilysin, N-arginine dibasic convertase, NRD convertase 1 [Source:MGI Symbol;Acc:MGI:1201386]|Heterozygous|Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory.|A|T|24|37.0|Non-synonymous|Line Propagating
1796331|IGL00857|9|44932386|G->W|1.0|Probably damaging|MGI:2154580|Ube4a|ubiquitination factor E4A, UFD2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2154580]|Heterozygous||C|A|23|39.0|Non-synonymous|Line Propagating
1796332|IGL00857|8|19497578|R->Q|1.0|Probably damaging|MGI:2179200|Defb7|defensin beta 7 [Source:MGI Symbol;Acc:MGI:2179200]|Heterozygous||G|A|21|39.0|Non-synonymous|Line Propagating
1796333|IGL00857|10|125230934|Y->D|0.5|Possibly damaging|MGI:1330284|Slc16a7|solute carrier family 16 (monocarboxylic acid transporters), member 7 [Source:MGI Symbol;Acc:MGI:1330284]|Heterozygous||A|C|19|40.0|Non-synonymous|Line Propagating
1796334|IGL00857|6|25744628|I->V||Benign|MGI:2141503|Pot1a|protection of telomeres 1A [Source:MGI Symbol;Acc:MGI:2141503]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality and lack inner cell mass. Mice homozygous for a knock-out allele exhibit prenatal lethality.|T|C|19|39.0|Non-synonymous|Line Propagating
1796335|IGL00857|6|47049424|N->K||Benign|MGI:1914047|Cntnap2|contactin associated protein-like 2 [Source:MGI Symbol;Acc:MGI:1914047]|Heterozygous|Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.|C|A|19|40.0|Non-synonymous|Line Propagating
1796336|IGL00857|15|89570002|T->A|0.01|Benign|MGI:87884|Acr|acrosin prepropeptide [Source:MGI Symbol;Acc:MGI:87884]|Heterozygous|Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo.|A|G|18|39.5|Non-synonymous|Line Propagating
1796338|IGL00857|16|4953929|H->L|0.85|Possibly damaging|MGI:1919865|Anks3|ankyrin repeat and sterile alpha motif domain containing 3 [Source:MGI Symbol;Acc:MGI:1919865]|Heterozygous||T|A|17|39.0|Non-synonymous|Line Propagating
1796339|IGL00857|3|73049841|L->F|1.0|Probably damaging|MGI:2679447|Slitrk3|SLIT and NTRK-like family, member 3 [Source:MGI Symbol;Acc:MGI:2679447]|Heterozygous||G|A|16|37.5|Non-synonymous|Line Propagating
1796340|IGL00857|11|65178836|V->D|0.99|Probably damaging|MGI:2137495|Myocd|myocardin [Source:MGI Symbol;Acc:MGI:2137495]|Heterozygous|Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle.|A|T|12|36.0|Non-synonymous|Line Propagating
1796341|IGL00857|10|127898859|Q->R||Benign|MGI:1917311|Sdr9c7|4short chain dehydrogenase/reductase family 9C, member 7 [Source:MGI Symbol;Acc:MGI:1917311]|Heterozygous||A|G|11|40.0|Non-synonymous|Line Propagating
1796342|IGL00857|15|71463616|E->D|0.99|Probably damaging|MGI:1917613|Fam135b|family with sequence similarity 135, member B [Source:MGI Symbol;Acc:MGI:1917613]|Heterozygous||T|A|10|39.5|Non-synonymous|Line Propagating
1796343|IGL00857|17|32489657|I->V|0.02|Benign|MGI:2445210|Cyp4f39|cytochrome P450, family 4, subfamily f, polypeptide 39 [Source:MGI Symbol;Acc:MGI:2445210]|Heterozygous||A|G|10|38.5|Non-synonymous|Line Propagating
1796347|IGL00857|5|45676585|Disrupted splicing|||MGI:1930197|Ncapg|non-SMC condensin I complex, subunit G [Source:MGI Symbol;Acc:MGI:1930197]|Heterozygous||T|A|33|40.0|Splice|Line Propagating
1796348|IGL00857|15|54875650|Disrupted splicing|||MGI:1321390|Enpp2|ectonucleotide pyrophosphatase/phosphodiesterase 2 [Source:MGI Symbol;Acc:MGI:1321390]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.|A|G|25|39.0|Splice|Line Propagating
1796349|IGL00857|14|55561285|Disrupted splicing|||MGI:90168|Dcaf11|DDB1 and CUL4 associated factor 11 [Source:MGI Symbol;Acc:MGI:90168]|Heterozygous||A|T|23|37.0|Splice|Line Propagating
1796350|IGL00857|4|118612923|Disrupted splicing|||MGI:2686209|Wdr65|WD repeat domain 65 [Source:MGI Symbol;Acc:MGI:2686209]|Heterozygous||C|T|20|37.0|Splice|Line Propagating
1796821|IGL00858|1|10483994|R->S|1.0|Probably damaging|MGI:3045348|Cpa6|carboxypeptidase A6 [Source:MGI Symbol;Acc:MGI:3045348]|Heterozygous||T|A|70|38.5|Non-synonymous|Line Propagating
1796822|IGL00858|6|132893152|R->S|0.01|Benign|MGI:2681217|Tas2r113|taste receptor, type 2, member 113 [Source:MGI Symbol;Acc:MGI:2681217]|Heterozygous||C|A|55|39.0|Non-synonymous|Line Propagating
1796823|IGL00858|6|61810665|S->Stop||N/A|MGI:3045354|Fam190a|family with sequence similarity 190, member A [Source:MGI Symbol;Acc:MGI:3045354]|Heterozygous||C|A|41|40.0|Non-synonymous|Line Propagating
1796824|IGL00858|1|135851702|V->I|0.86|Possibly damaging|MGI:104597|Tnnt2|troponin T2, cardiac [Source:MGI Symbol;Acc:MGI:104597]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy.|G|A|32|37.0|Non-synonymous|Line Propagating
1796825|IGL00858|19|39307656|V->D|1.0|Probably damaging|MGI:103238|Cyp2c29|cytochrome P450, family 2, subfamily c, polypeptide 29 [Source:MGI Symbol;Acc:MGI:103238]|Heterozygous||T|A|26|39.0|Non-synonymous|Line Propagating
1796826|IGL00858|3|151749580|M->L|0.01|Benign|MGI:2443016|Ifi44|interferon-induced protein 44 [Source:MGI Symbol;Acc:MGI:2443016]|Heterozygous||T|A|25|40.0|Non-synonymous|Line Propagating
1796828|IGL00858|2|25609771|M->L||Benign|MGI:1924308|4921530d09rik|RIKEN cDNA 4921530D09 gene [Source:MGI Symbol;Acc:MGI:1924308]|Heterozygous||T|A|21|38.0|Non-synonymous|Line Propagating
1796829|IGL00858|18|49728385|I->N|1.0|Probably damaging|MGI:1916107|Dtwd2|DTW domain containing 2 [Source:MGI Symbol;Acc:MGI:1916107]|Heterozygous||A|T|17|36.0|Non-synonymous|Line Propagating
1796830|IGL00858|10|88809138|E->D||Benign|MGI:1917933|Utp20|UTP20, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:1917933]|Heterozygous||T|A|16|38.5|Non-synonymous|Line Propagating
1796831|IGL00858|10|109742632|V->A|0.99|Probably damaging|MGI:2183703|Nav3|neuron navigator 3 [Source:MGI Symbol;Acc:MGI:2183703]|Heterozygous||A|G|16|39.5|Non-synonymous|Line Propagating
1796832|IGL00858|1|80568003|N->S|0.02|Benign|MGI:2146320|Dock10|dedicator of cytokinesis 10 [Source:MGI Symbol;Acc:MGI:2146320]|Heterozygous||T|C|15|38.0|Non-synonymous|Line Propagating
1796833|IGL00858|10|88809125|L->F|0.71|Possibly damaging|MGI:1917933|Utp20|UTP20, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:1917933]|Heterozygous||G|A|15|39.0|Non-synonymous|Line Propagating
1796834|IGL00858|19|45007626|W->L|0.03|Benign|MGI:2137410|Peo1|progressive external ophthalmoplegia 1 (human) [Source:MGI Symbol;Acc:MGI:2137410]|Heterozygous||G|T|15|36.0|Non-synonymous|Line Propagating
1796835|IGL00858|18|61736854|T->M|0.66|Possibly damaging|MGI:2147199|Afap1l1|actin filament associated protein 1-like 1 [Source:MGI Symbol;Acc:MGI:2147199]|Heterozygous||G|A|14|33.5|Non-synonymous|Line Propagating
1796836|IGL00858|10|78750569|D->G|0.08|Benign|MGI:1918226|Ccdc105|coiled-coil domain containing 105 [Source:MGI Symbol;Acc:MGI:1918226]|Heterozygous||T|C|13|34.0|Non-synonymous|Line Propagating
1796837|IGL00858|10|127167764|T->A|0.01|Benign|MGI:1342057|B4galnt1|beta-1,4-N-acetyl-galactosaminyl transferase 1 [Source:MGI Symbol;Acc:MGI:1342057]|Heterozygous|Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules.|A|G|11|37.0|Non-synonymous|Line Propagating
1796838|IGL00858|11|74659605|K->E|0.31|Benign|MGI:1921398|1300001i01rik|RIKEN cDNA 1300001I01 gene [Source:MGI Symbol;Acc:MGI:1921398]|Heterozygous||A|G|11|35.0|Non-synonymous|Line Propagating
1796839|IGL00858|2|72198897|I->F|1.0|Probably damaging|MGI:1917723|Rapgef4|Rap guanine nucleotide exchange factor (GEF) 4 [Source:MGI Symbol;Acc:MGI:1917723]|Heterozygous|Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis.|A|T|11|40.0|Non-synonymous|Line Propagating
1796840|IGL00858|17|29340456|D->N|1.0|Probably damaging|MGI:1929261|Mtch1|mitochondrial carrier homolog 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1929261]|Heterozygous||C|T|10|39.5|Non-synonymous|Line Propagating
1796841|IGL00858|3|122173888|V->M|0.92|Possibly damaging|MGI:109424|Abca4|ATP-binding cassette, sub-family A (ABC1), member 4 [Source:MGI Symbol;Acc:MGI:109424]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.|G|A|10|39.5|Non-synonymous|Line Propagating
1796846|IGL00858|14|65811924|Disrupted splicing|||MGI:1289156|Pbk|PDZ binding kinase [Source:MGI Symbol;Acc:MGI:1289156]|Heterozygous||T|C|29|39.0|Splice|Line Propagating
1796847|IGL00858|5|145151282|Disrupted splicing|||MGI:1919049|Ptcd1|pentatricopeptide repeat domain 1 [Source:MGI Symbol;Acc:MGI:1919049]|Heterozygous||A|T|21|39.0|Splice|Line Propagating
1796848|IGL00858|1|160088392|Disrupted splicing|||MGI:2665790|Tnn|tenascin N [Source:MGI Symbol;Acc:MGI:2665790]|Heterozygous||C|T|12|35.5|Splice|Line Propagating
1796849|IGL00858|17|32911718|Disrupted splicing|||MGI:1927669|Cyp4f14|cytochrome P450, family 4, subfamily f, polypeptide 14 [Source:MGI Symbol;Acc:MGI:1927669]|Heterozygous||A|G|12|38.5|Splice|Line Propagating
1797778|IGL00861|19|11711640|D->G||Unknown|MGI:2684943|Gm97|predicted gene 97 [Source:MGI Symbol;Acc:MGI:2684943]|Heterozygous||A|G|82|35.0|Non-synonymous|Line Propagating
1797779|IGL00861|1|87774838|G->S|0.47|Possibly damaging|MGI:1924290|Atg16l1|autophagy-related 16-like 1 (yeast) [Source:MGI Symbol;Acc:MGI:1924290]|Heterozygous|Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorph alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.|G|A|60|38.0|Non-synonymous|Line Propagating
1797780|IGL00861|5|52538121|K->E||Benign|MGI:2180196|Lgi2|leucine-rich repeat LGI family, member 2 [Source:MGI Symbol;Acc:MGI:2180196]|Heterozygous||T|C|49|39.0|Non-synonymous|Line Propagating
1797781|IGL00861|5|107570139|M->K|0.16|Benign|MGI:2141180|Glmn|glomulin, FKBP associated protein [Source:MGI Symbol;Acc:MGI:2141180]|Heterozygous||A|T|42|40.0|Non-synonymous|Line Propagating
1797782|IGL00861|2|91770926|D->E|1.0|Probably damaging|MGI:2443564|Ambra1|autophagy/beclin 1 regulator 1 [Source:MGI Symbol;Acc:MGI:2443564]|Heterozygous|Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis.|T|A|33|39.0|Non-synonymous|Line Propagating
1797783|IGL00861|6|83299471|I->V||Benign|MGI:2443220|Slc4a5|solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:MGI Symbol;Acc:MGI:2443220]|Heterozygous||A|G|33|37.0|Non-synonymous|Line Propagating
1797786|IGL00861|6|130023700|V->A|1.0|Probably damaging|MGI:101902|Klra6|killer cell lectin-like receptor, subfamily A, member 6 [Source:MGI Symbol;Acc:MGI:101902]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
1797787|IGL00861|15|73262547|S->P|1.0|Probably damaging|MGI:95481|Ptk2|PTK2 protein tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:95481]|Heterozygous|Mice homozygous for a null allele die before or during organogenesis with growth retardation, abnormal embryonic and extra embryonic tissue development, and abnormal vascular development.|A|G|22|39.5|Non-synonymous|Line Propagating
1797789|IGL00861|2|23399962|F->I|1.0|Probably damaging|MGI:107491|Nxph2|neurexophilin 2 [Source:MGI Symbol;Acc:MGI:107491]|Heterozygous||T|A|20|36.0|Non-synonymous|Line Propagating
1797791|IGL00861|9|44249636|L->P|0.78|Possibly damaging|MGI:2429554|Pdzd3|PDZ domain containing 3 [Source:MGI Symbol;Acc:MGI:2429554]|Heterozygous||A|G|15|38.0|Non-synonymous|Line Propagating
1797792|IGL00861|12|36221508|Q->L||Benign|MGI:1920830|1700108m19rik|RIKEN cDNA 1700108M19 gene [Source:MGI Symbol;Acc:MGI:1920830]|Heterozygous||T|A|12|38.0|Non-synonymous|Line Propagating
1797793|IGL00861|2|84603752|D->G||Benign|MGI:105100|Ctnnd1|catenin (cadherin associated protein), delta 1 [Source:MGI Symbol;Acc:MGI:105100]|Heterozygous|Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland.|T|C|12|39.0|Non-synonymous|Line Propagating
1797794|IGL00861|14|32449023|Y->C|1.0|Probably damaging|MGI:88392|Chat|choline acetyltransferase [Source:MGI Symbol;Acc:MGI:88392]|Heterozygous|Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis (drop wrist).|T|C|11|37.0|Non-synonymous|Line Propagating
1797795|IGL00861|10|99129652|R->C|0.71|Possibly damaging|MGI:1918511|Poc1b|POC1 centriolar protein homolog B (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1918511]|Heterozygous||C|T|10|39.0|Non-synonymous|Line Propagating
1797796|IGL00861|15|59337276|T->K|0.96|Probably damaging|MGI:2146110|E430025e21rik|RIKEN cDNA E430025E21 gene [Source:MGI Symbol;Acc:MGI:2146110]|Heterozygous||G|T|10|36.0|Non-synonymous|Line Propagating
1797798|IGL00861|18|53210797|Disrupted splicing|||MGI:1915054|Snx2|sorting nexin 2 [Source:MGI Symbol;Acc:MGI:1915054]|Heterozygous|Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities.|G|A|39|40.0|Splice|Line Propagating
1797799|IGL00861|1|110060988|Disrupted splicing|||MGI:2442792|Cdh7|cadherin 7, type 2 [Source:MGI Symbol;Acc:MGI:2442792]|Heterozygous||C|A|30|40.0|Splice|Line Propagating
1797800|IGL00861|5|32967814|Disrupted splicing|||MGI:2141101|Depdc5|DEP domain containing 5 [Source:MGI Symbol;Acc:MGI:2141101]|Heterozygous||T|C|13|37.0|Splice|Line Propagating
1797801|IGL00861|15|89323285|Disrupted splicing|||MGI:2675256|Adm2|adrenomedullin 2 [Source:MGI Symbol;Acc:MGI:2675256]|Heterozygous||G|A|11|40.0|Splice|Line Propagating
1798259|IGL00862|17|21509098|H->Q|0.03|Benign|MGI:99200|Zfp53|zinc finger protein 53 [Source:MGI Symbol;Acc:MGI:99200]|Heterozygous|Homozygous disruption of this locus results in pigmentation abnormalities.|T|A|37|39.0|Non-synonymous|Line Propagating
1798260|IGL00862|3|145024571|N->I|0.95|Possibly damaging|MGI:1346342|Clca3|chloride channel calcium activated 3 [Source:MGI Symbol;Acc:MGI:1346342]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated mucin response.|T|A|23|38.0|Non-synonymous|Line Propagating
1798261|IGL00862|19|17119349|H->P|0.29|Benign|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||A|C|18|38.0|Non-synonymous|Line Propagating
1798262|IGL00862|3|153883735|D->V|0.76|Possibly damaging|MGI:1860077|Msh4|mutS homolog 4 (E. coli) [Source:MGI Symbol;Acc:MGI:1860077]|Heterozygous|Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.|T|A|17|39.0|Non-synonymous|Line Propagating
1798263|IGL00862|2|67516903|I->V||Benign|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||A|G|15|36.0|Non-synonymous|Line Propagating
1798265|IGL00862|11|109953548|T->A|0.41|Benign|MGI:1351668|Abca8b|ATP-binding cassette, sub-family A (ABC1), member 8b [Source:MGI Symbol;Acc:MGI:1351668]|Heterozygous||T|C|14|38.5|Non-synonymous|Line Propagating
1798266|IGL00862|13|105118684|F->L|1.0|Probably damaging|MGI:1914013|4933425l06rik|RIKEN cDNA 4933425L06 gene [Source:MGI Symbol;Acc:MGI:1914013]|Heterozygous||T|A|14|40.0|Non-synonymous|Line Propagating
1798267|IGL00862|6|34938063|N->K||Benign|MGI:107917|Stra8|stimulated by retinoic acid gene 8 [Source:MGI Symbol;Acc:MGI:107917]|Heterozygous|Homozygous null mice display impaired meiosis.|T|A|14|37.0|Non-synonymous|Line Propagating
1798268|IGL00862|19|18827528|Y->C|1.0|Probably damaging|MGI:2675603|Trpm6|transient receptor potential cation channel, subfamily M, member 6 [Source:MGI Symbol;Acc:MGI:2675603]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
1798269|IGL00862|17|21722284|Q->K|0.25|Benign|MGI:2679257|Zfp760|zinc finger protein 760 [Source:MGI Symbol;Acc:MGI:2679257]|Heterozygous||C|A|11|40.0|Non-synonymous|Line Propagating
1798270|IGL00862|7|78247177|V->D|0.99|Probably damaging|MGI:97385|Ntrk3|neurotrophic tyrosine kinase, receptor, type 3 [Source:MGI Symbol;Acc:MGI:97385]|Heterozygous|Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.|A|T|11|35.0|Non-synonymous|Line Propagating
1798272|IGL00862|9|36784478|W->Stop||N/A|MGI:108090|Ei24|etoposide induced 2.4 mRNA [Source:MGI Symbol;Acc:MGI:108090]|Heterozygous||C|T|10|40.5|Non-synonymous|Line Propagating
1798275|IGL00862|15|68258663|Disrupted splicing|||MGI:2681865|Zfat|zinc finger and AT hook domain containing [Source:MGI Symbol;Acc:MGI:2681865]|Heterozygous||C|T|20|39.0|Splice|Line Propagating
1798690|IGL00863|12|78809821|D->G|0.49|Possibly damaging|MGI:1927339|Mpp5|membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) [Source:MGI Symbol;Acc:MGI:1927339]|Heterozygous|Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype.|A|G|80|40.0|Non-synonymous|Line Propagating
1798691|IGL00863|13|12435128|V->A||Benign|MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||T|C|55|39.0|Non-synonymous|Line Propagating
1798692|IGL00863|1|110949144|V->A|1.0|Probably damaging|MGI:3588198|Cdh19|cadherin 19, type 2 [Source:MGI Symbol;Acc:MGI:3588198]|Heterozygous||A|G|49|39.0|Non-synonymous|Line Propagating
1798693|IGL00863|8|40985534|E->G|0.03|Benign|MGI:1916047|Pdgfrl|platelet-derived growth factor receptor-like [Source:MGI Symbol;Acc:MGI:1916047]|Heterozygous||A|G|43|38.0|Non-synonymous|Line Propagating
1798694|IGL00863|18|57594086|E->V|0.98|Probably damaging|MGI:1922694|1700011i03rik|RIKEN cDNA 1700011I03 gene [Source:MGI Symbol;Acc:MGI:1922694]|Heterozygous||A|T|40|39.0|Non-synonymous|Line Propagating
1798695|IGL00863|6|42141121|S->R|1.0|Probably damaging|MGI:2681308|Tas2r139|taste receptor, type 2, member 139 [Source:MGI Symbol;Acc:MGI:2681308]|Heterozygous||T|G|39|38.0|Non-synonymous|Line Propagating
1798696|IGL00863|3|93797073|T->S|0.66|Possibly damaging|MGI:3027904|Tdpoz4|TD and POZ domain containing 4 [Source:MGI Symbol;Acc:MGI:3027904]|Heterozygous||A|T|38|39.0|Non-synonymous|Line Propagating
1798698|IGL00863|18|9345444|D->E|0.48|Possibly damaging|MGI:1915224|Ccny|cyclin Y [Source:MGI Symbol;Acc:MGI:1915224]|Heterozygous||A|T|36|38.0|Non-synonymous|Line Propagating
1798699|IGL00863|12|12359234|I->F||Benign|MGI:1261783|Fam49a|family with sequence similarity 49, member A [Source:MGI Symbol;Acc:MGI:1261783]|Heterozygous||A|T|35|38.0|Non-synonymous|Line Propagating
1798700|IGL00863|11|62883638|A->E|1.0|Probably damaging|MGI:1914760|Fam18b|family with sequence similarity 18, member B [Source:MGI Symbol;Acc:MGI:1914760]|Heterozygous||C|A|34|37.5|Non-synonymous|Line Propagating
1798701|IGL00863|17|87027723|I->N|0.98|Probably damaging|MGI:1929655|Cript|cysteine-rich PDZ-binding protein [Source:MGI Symbol;Acc:MGI:1929655]|Heterozygous||T|A|33|38.0|Non-synonymous|Line Propagating
1798702|IGL00863|10|49355928|V->A|0.98|Probably damaging|MGI:95815|Grik2|glutamate receptor, ionotropic, kainate 2 (beta 2) [Source:MGI Symbol;Acc:MGI:95815]|Heterozygous|Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration.|A|G|25|38.0|Non-synonymous|Line Propagating
1798703|IGL00863|13|85288429|V->A|0.02|Benign|MGI:97860|Rasa1|RAS p21 protein activator 1 [Source:MGI Symbol;Acc:MGI:97860]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5.|A|G|24|33.5|Non-synonymous|Line Propagating
1798704|IGL00863|12|101809916|V->A|0.99|Probably damaging|MGI:1346091|Fbln5|fibulin 5 [Source:MGI Symbol;Acc:MGI:1346091]|Heterozygous|Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta.|A|G|23|35.0|Non-synonymous|Line Propagating
1798705|IGL00863|2|58790064|E->K||Benign|MGI:1923904|Upp2|uridine phosphorylase 2 [Source:MGI Symbol;Acc:MGI:1923904]|Heterozygous||G|A|22|39.5|Non-synonymous|Line Propagating
1798706|IGL00863|2|125403219|E->D|0.04|Benign|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|T|A|21|39.0|Non-synonymous|Line Propagating
1798707|IGL00863|14|108911837|N->Y|1.0|Probably damaging|MGI:2679446|Slitrk1|SLIT and NTRK-like family, member 1 [Source:MGI Symbol;Acc:MGI:2679446]|Heterozygous||T|A|18|37.0|Non-synonymous|Line Propagating
1798709|IGL00863|11|101370723|R->L|1.0|Probably damaging|MGI:95607|G6pc|glucose-6-phosphatase, catalytic [Source:MGI Symbol;Acc:MGI:95607]|Heterozygous|Mice homozygous for disruptions in this gene tend to die within a couple of weeks of weaning. Blood chemistry and glucose metabolism are abnormal as isglycogen storage.|G|T|14|37.5|Non-synonymous|Line Propagating
1798710|IGL00863|11|59450743|S->P||Benign|MGI:2144404|Jmjd4|jumonji domain containing 4 [Source:MGI Symbol;Acc:MGI:2144404]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
1798711|IGL00863|3|27241313|P->L|1.0|Probably damaging|MGI:2443191|Nceh1|arylacetamide deacetylase-like 1 [Source:MGI Symbol;Acc:MGI:2443191]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis.|C|T|13|38.0|Non-synonymous|Line Propagating
1798712|IGL00863|3|45380302|D->E|1.0|Probably damaging|MGI:1338042|Pcdh10|protocadherin 10 [Source:MGI Symbol;Acc:MGI:1338042]|Heterozygous|Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon.|T|A|13|38.0|Non-synonymous|Line Propagating
1798713|IGL00863|3|69317950|D->E|0.99|Probably damaging|MGI:2139740|Ppm1l|protein phosphatase 1 (formerly 2C)-like [Source:MGI Symbol;Acc:MGI:2139740]|Heterozygous|Mice homozygous for a null allele display a significant increase in body weight, total fat mass and blood pressure, higher baseline plasma glucose levels, decreased free fatty acid levels, and improved glucose tolerance in male, but not female, mutant mice.|T|A|12|37.5|Non-synonymous|Line Propagating
1798714|IGL00863|7|44838046|Y->Stop||N/A|MGI:109552|Il4i1|interleukin 4 induced 1 [Source:MGI Symbol;Acc:MGI:109552]|Heterozygous|Homozygous mutation of this gene results in no obvious phenotype.|T|A|11|37.0|Non-synonymous|Line Propagating
1798715|IGL00863|9|108115322|I->T|0.96|Probably damaging|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|A|G|10|38.5|Non-synonymous|Line Propagating
1798716|IGL00863|2|121457703|Disrupted splicing|||MGI:1914943|2310003f16rik|RIKEN cDNA 2310003F16 gene [Source:MGI Symbol;Acc:MGI:1914943]|Heterozygous||T|C|48|37.0|Splice|Line Propagating
1798717|IGL00863|4|8183251|Disrupted splicing|||MGI:88253|Car8|carbonic anhydrase 8 [Source:MGI Symbol;Acc:MGI:88253]|Heterozygous|Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life.|A|G|20|39.5|Splice|Line Propagating
1799182|IGL00864|14|73363135|K->E|1.0|Probably damaging|MGI:1309517|Itm2b|integral membrane protein 2B [Source:MGI Symbol;Acc:MGI:1309517]|Heterozygous|Mice homozygous for a null mutation display increased levels of soluble APP fragments in the brain. Mice homozygous for a knock-in allele exhibit impaired oject recognition, impaired contextual conditioning, and impaired spatial working memory.|T|C|71|40.0|Non-synonymous|Line Propagating
1799183|IGL00864|9|53533933|S->G|0.98|Probably damaging|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|T|C|70|40.0|Non-synonymous|Line Propagating
1799184|IGL00864|4|103235698|D->G|0.86|Possibly damaging|MGI:1918191|4921539e11rik|RIKEN cDNA 4921539E11 gene [Source:MGI Symbol;Acc:MGI:1918191]|Heterozygous||T|C|42|39.0|Non-synonymous|Line Propagating
1799185|IGL00864|14|101444566|D->V|||MGI:2429660|Tbc1d4|TBC1 domain family, member 4 [Source:MGI Symbol;Acc:MGI:2429660]|Heterozygous|Mice homozygous for a knock-in allele show a slightly reduced body size, glucose intolerance, impaired insulin sensitivity, deregulated GLUT4 trafficking, abnormal glucose uptake in muscle and adipose cells, increased testis and heart weight in male mice, and reduced spleen weight in female mice.|T|A|34|39.0|Non-synonymous|Line Propagating
1799187|IGL00864|15|9175210|S->P|1.0|Probably damaging|MGI:2444173|Lmbrd2|LMBR1 domain containing 2 [Source:MGI Symbol;Acc:MGI:2444173]|Heterozygous||T|C|27|39.0|Non-synonymous|Line Propagating
1799188|IGL00864|2|73156897|D->E||Benign|MGI:1914309|Ola1|Obg-like ATPase 1 [Source:MGI Symbol;Acc:MGI:1914309]|Heterozygous||A|T|26|38.5|Non-synonymous|Line Propagating
1799189|IGL00864|6|67336754|I->T||Benign|MGI:1270861|Il12rb2|interleukin 12 receptor, beta 2 [Source:MGI Symbol;Acc:MGI:1270861]|Heterozygous|Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors.|A|G|26|40.0|Non-synonymous|Line Propagating
1799190|IGL00864|2|76713834|S->F||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|G|A|24|39.5|Non-synonymous|Line Propagating
1799191|IGL00864|9|28901590|E->K|1.0|Probably damaging|MGI:97397|Opcml|opioid binding protein/cell adhesion molecule-like [Source:MGI Symbol;Acc:MGI:97397]|Heterozygous||G|A|22|39.0|Non-synonymous|Line Propagating
1799192|IGL00864|9|28901591|E->A|1.0|Probably damaging|MGI:97397|Opcml|opioid binding protein/cell adhesion molecule-like [Source:MGI Symbol;Acc:MGI:97397]|Heterozygous||A|C|22|39.0|Non-synonymous|Line Propagating
1799193|IGL00864|8|92995994|F->L||Benign|MGI:1270850|Slc6a2|solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 [Source:MGI Symbol;Acc:MGI:1270850]|Heterozygous|Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants.|T|C|18|39.0|Non-synonymous|Line Propagating
1799194|IGL00864|11|83333158|D->A|0.58|Possibly damaging|MGI:1919020|Ap2b1|adaptor-related protein complex 2, beta 1 subunit [Source:MGI Symbol;Acc:MGI:1919020]|Heterozygous||A|C|16|37.0|Non-synonymous|Line Propagating
1799195|IGL00864|4|58068533|Y->Stop||N/A|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||G|T|16|39.5|Non-synonymous|Line Propagating
1799196|IGL00864|9|106225007|L->P|1.0|Probably damaging|MGI:1932389|Tlr9|toll-like receptor 9 [Source:MGI Symbol;Acc:MGI:1932389]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired immune system response to LPS, CpG, and Leishmania bazillensis infection.|T|C|16|36.0|Non-synonymous|Line Propagating
1799197|IGL00864|16|16780733|V->A|0.1|Benign|MGI:1354388|Spag6|sperm associated antigen 6 [Source:MGI Symbol;Acc:MGI:1354388]|Heterozygous|Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility.|A|G|15|31.0|Non-synonymous|Line Propagating
1799198|IGL00864|17|29139737|S->P||Benign|MGI:3045302|Rab44|RAB44, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:3045302]|Heterozygous||T|C|15|37.0|Non-synonymous|Line Propagating
1799199|IGL00864|6|115948626|K->R|0.98|Probably damaging|MGI:2176207|H1foo|H1 histone family, member O, oocyte-specific [Source:MGI Symbol;Acc:MGI:2176207]|Heterozygous|Mice homozygous for a targeted mutation exhibit no detectable abnormalities. Oocytes develop normally and no defects in fertility or litter sizes are observed.|A|G|15|38.0|Non-synonymous|Line Propagating
1799200|IGL00864|18|22522446|I->K|0.03|Benign|MGI:2685175|Asxl3|additional sex combs like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685175]|Heterozygous||T|A|13|41.0|Non-synonymous|Line Propagating
1799201|IGL00864|1|180990451|S->P|1.0|Probably damaging|MGI:95405|Ephx1|epoxide hydrolase 1, microsomal [Source:MGI Symbol;Acc:MGI:95405]|Heterozygous||A|G|11|39.0|Non-synonymous|Line Propagating
1799202|IGL00864|1|21505763|Q->L|0.99|Probably damaging|MGI:1924937|Kcnq5|potassium voltage-gated channel, subfamily Q, member 5 [Source:MGI Symbol;Acc:MGI:1924937]|Heterozygous||T|A|10|37.5|Non-synonymous|Line Propagating
1799207|IGL00864|7|46515663|Disrupted splicing|||MGI:1351630|Sergef|secretion regulating guanine nucleotide exchange factor [Source:MGI Symbol;Acc:MGI:1351630]|Heterozygous||C|A|31|30.0|Splice|Line Propagating
1862277|IGL00753|14|56957060|C->Stop||N/A|MGI:1923257|Zmym2|zinc finger, MYM-type 2 [Source:MGI Symbol;Acc:MGI:1923257]|Heterozygous||T|A|98|37.0|Non-synonymous|Line Propagating
1862278|IGL00753|15|47644235|Y->H|0.98|Probably damaging|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||A|G|79|37.0|Non-synonymous|Line Propagating
1862279|IGL00753|6|136634470|Y->D||Benign|MGI:1914107|Plbd1|phospholipase B domain containing 1 [Source:MGI Symbol;Acc:MGI:1914107]|Heterozygous||A|C|59|37.0|Non-synonymous|Line Propagating
1862280|IGL00753|2|65683863|N->S|0.28|Benign|MGI:98248|Scn2a1|sodium channel, voltage-gated, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:98248]|Heterozygous|Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.|A|G|48|39.5|Non-synonymous|Line Propagating
1862281|IGL00753|11|80132858|Q->K||Benign|MGI:2442925|Atad5|ATPase family, AAA domain containing 5 [Source:MGI Symbol;Acc:MGI:2442925]|Heterozygous||C|A|45|39.0|Non-synonymous|Line Propagating
1862283|IGL00753|1|55696738|S->P|0.99|Probably damaging|MGI:3036262|Plcl1|phospholipase C-like 1 [Source:MGI Symbol;Acc:MGI:3036262]|Heterozygous||T|C|39|38.0|Non-synonymous|Line Propagating
1862284|IGL00753|6|29565787|I->F|0.95|Probably damaging|MGI:1196412|Tnpo3|transportin 3 [Source:MGI Symbol;Acc:MGI:1196412]|Heterozygous||T|A|35|38.0|Non-synonymous|Line Propagating
1862285|IGL00753|4|116985736|W->R|0.98|Probably damaging|MGI:1921714|Zswim5|zinc finger, SWIM domain containing 5 [Source:MGI Symbol;Acc:MGI:1921714]|Heterozygous||T|C|30|35.0|Non-synonymous|Line Propagating
1862286|IGL00753|11|77825151|S->P|1.0|Probably damaging|MGI:2667185|Myo18a|myosin XVIIIA [Source:MGI Symbol;Acc:MGI:2667185]|Heterozygous||T|C|28|37.5|Non-synonymous|Line Propagating
1862287|IGL00753|13|8861174|R->C|1.0|Probably damaging|MGI:1920393|Wdr37|WD repeat domain 37 [Source:MGI Symbol;Acc:MGI:1920393]|Heterozygous||G|A|28|36.5|Non-synonymous|Line Propagating
1862288|IGL00753|15|35372031|S->L|0.99|Probably damaging|MGI:1916380|Vps13b|vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]|Heterozygous||C|T|26|40.0|Non-synonymous|Line Propagating
1862289|IGL00753|7|44843085|T->A|0.02|Benign|MGI:2449973|Tbc1d17|TBC1 domain family, member 17 [Source:MGI Symbol;Acc:MGI:2449973]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
1862290|IGL00753|7|126767426|Y->Stop||N/A|MGI:1915866|Gdpd3|glycerophosphodiester phosphodiesterase domain containing 3 [Source:MGI Symbol;Acc:MGI:1915866]|Heterozygous||C|A|25|40.0|Non-synonymous|Line Propagating
1862291|IGL00753|9|44505627|T->K|0.13|Benign|MGI:1933114|Bcl9l|B-cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]|Heterozygous|Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.|C|A|24|37.0|Non-synonymous|Line Propagating
1862292|IGL00753|16|93769624|T->A||Benign|MGI:1917278|Dopey2|dopey family member 2 [Source:MGI Symbol;Acc:MGI:1917278]|Heterozygous||A|G|23|35.0|Non-synonymous|Line Propagating
1862293|IGL00753|6|12327529|C->Y|0.99|Probably damaging|MGI:2685683|Thsd7a|thrombospondin, type I, domain containing 7A [Source:MGI Symbol;Acc:MGI:2685683]|Heterozygous||C|T|21|40.0|Non-synonymous|Line Propagating
1862295|IGL00753|17|25055644|F->L|1.0|Probably damaging|MGI:2146906|Ift140|intraflagellar transport 140 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:2146906]|Heterozygous||T|A|13|38.0|Non-synonymous|Line Propagating
1862296|IGL00753|1|135966726|P->H|0.99|Probably damaging|MGI:3045352|Igfn1|immunoglobulin-like and fibronectin type III domain containing 1 [Source:MGI Symbol;Acc:MGI:3045352]|Heterozygous||G|T|10|38.0|Non-synonymous|Line Propagating
1862297|IGL00753|9|37523549|Disrupted splicing|||MGI:2384579|Bc024479|cDNA sequence BC024479 [Source:MGI Symbol;Acc:MGI:2384579]|Heterozygous||T|C|103|37.0|Splice|Line Propagating
1864630|IGL00742|3|64491413|I->T|0.31|Benign|MGI:3649074|Vmn2r5|vomeronasal 2, receptor 5 [Source:MGI Symbol;Acc:MGI:3649074]|Heterozygous||A|G|478|39.0|Non-synonymous|Line Propagating
1864631|IGL00742|5|87127814|G->S|1.0|Probably damaging|MGI:98900|Ugt2b5|UDP glucuronosyltransferase 2 family, polypeptide B5 [Source:MGI Symbol;Acc:MGI:98900]|Heterozygous||C|T|399|37.0|Non-synonymous|Line Propagating
1864632|IGL00742|2|25588687|E->G|0.99|Probably damaging|MGI:2442633|B230208h17rik|RIKEN cDNA B230208H17 gene [Source:MGI Symbol;Acc:MGI:2442633]|Heterozygous||T|C|288|37.0|Non-synonymous|Line Propagating
1864633|IGL00742|7|103561356|Y->F|1.0|Probably damaging|MGI:3030449|Olfr615|olfactory receptor 615 [Source:MGI Symbol;Acc:MGI:3030449]|Heterozygous||A|T|159|39.0|Non-synonymous|Line Propagating
1864634|IGL00742|5|33661234|H->Q|0.95|Possibly damaging|MGI:1341163|Tacc3|transforming, acidic coiled-coil containing protein 3 [Source:MGI Symbol;Acc:MGI:1341163]|Heterozygous||T|A|157|38.0|Non-synonymous|Line Propagating
1864635|IGL00742|X|7931329|D->G|0.02|Benign|MGI:1333752|Hdac6|histone deacetylase 6 [Source:MGI Symbol;Acc:MGI:1333752]|Heterozygous|Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density.|T|C|141|35.0|Non-synonymous|Line Propagating
1864636|IGL00742|X|160488719|T->M|1.0|Probably damaging|MGI:2446854|Gpr64|G protein-coupled receptor 64 [Source:MGI Symbol;Acc:MGI:2446854]|Heterozygous|Hemizygous null male mice display reduced fertility, oligozoospermia, teratozoospermia, asthenozoospermia, abnormal epididymis morphology, and abnormal fluid accumulation resulting in enlarged testes and dilated seminiferous tubules.|C|T|115|37.0|Non-synonymous|Line Propagating
1864637|IGL00742|3|54372894|N->K|0.22|Benign|MGI:1926321|Postn|periostin, osteoblast specific factor [Source:MGI Symbol;Acc:MGI:1926321]|Heterozygous|Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities.|T|A|114|35.0|Non-synonymous|Line Propagating
1864638|IGL00742|6|60958120|H->L|1.0|Probably damaging|MGI:1918195|Mmrn1|multimerin 1 [Source:MGI Symbol;Acc:MGI:1918195]|Heterozygous||A|T|105|37.0|Non-synonymous|Line Propagating
1864639|IGL00742|13|52838102|E->G|0.36|Benign|MGI:1338011|Auh|AU RNA binding protein/enoyl-coenzyme A hydratase [Source:MGI Symbol;Acc:MGI:1338011]|Heterozygous||T|C|96|39.0|Non-synonymous|Line Propagating
1864640|IGL00742|3|123113876|P->Q|1.0|Probably damaging|MGI:2153070|Synpo2|synaptopodin 2 [Source:MGI Symbol;Acc:MGI:2153070]|Heterozygous||G|T|96|35.0|Non-synonymous|Line Propagating
1864641|IGL00742|3|82363420|V->A|0.14|Benign|MGI:2442208|Mtap9|microtubule-associated protein 9 [Source:MGI Symbol;Acc:MGI:2442208]|Heterozygous||T|C|89|35.0|Non-synonymous|Line Propagating
1864642|IGL00742|1|40480991|S->T||Benign|MGI:105383|Il18r1|interleukin 18 receptor 1 [Source:MGI Symbol;Acc:MGI:105383]|Heterozygous|Mice homozygous for disruptions in this gene exhibit impaire Th1 cell development and defective NK cell physiology.|T|A|80|35.0|Non-synonymous|Line Propagating
1864643|IGL00742|6|88376279|L->Q|0.88|Possibly damaging|MGI:2137092|Eefsec|eukaryotic elongation factor, selenocysteine-tRNA-specific [Source:MGI Symbol;Acc:MGI:2137092]|Heterozygous||A|T|73|38.0|Non-synonymous|Line Propagating
1864644|IGL00742|7|68190023|C->S||Benign|MGI:96433|Igf1r|insulin-like growth factor I receptor [Source:MGI Symbol;Acc:MGI:96433]|Heterozygous|Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia.|T|A|71|35.0|Non-synonymous|Line Propagating
1864645|IGL00742|1|56831541|N->K|0.11|Benign|MGI:2679336|Satb2|special AT-rich sequence binding protein 2 [Source:MGI Symbol;Acc:MGI:2679336]|Heterozygous||A|T|70|35.5|Non-synonymous|Line Propagating
1864646|IGL00742|7|19914859|P->S|1.0|Probably damaging|MGI:97822|Pvr|poliovirus receptor [Source:MGI Symbol;Acc:MGI:107741]|Heterozygous|Mice homozygous for one null allele have a reduced antibody response to oral immunization. Mice homozygous for a different null allele exhibit reduced susceptibility to chemically induced colon cancer.|G|A|70|38.0|Non-synonymous|Line Propagating
1864647|IGL00742|19|10610760|N->S||Benign|MGI:1202384|Ddb1|damage specific DNA binding protein 1 [Source:MGI Symbol;Acc:MGI:1202384]|Heterozygous|Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation.|A|G|69|36.0|Non-synonymous|Line Propagating
1864648|IGL00742|3|114124315|D->V||Unknown|MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|A|T|69|38.0|Non-synonymous|Line Propagating
1864649|IGL00742|15|101460278|R->C|0.01|Benign|MGI:1928858|Krt81|keratin 81 [Source:MGI Symbol;Acc:MGI:1928858]|Heterozygous||G|A|57|35.0|Non-synonymous|Line Propagating
1864650|IGL00742|18|80698014|R->H|1.0|Probably damaging|MGI:102469|Nfatc1|nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 [Source:MGI Symbol;Acc:MGI:102469]|Heterozygous|Homozygous mutation of this gene results in lethality throughout fetal growth and development due to cardiac failure. Mutants exhibit blood circulation, cardiac valve and ventricular septal abnormalities, edema, abdominal hemorrhage, and semilunar valveregurgitation.|C|T|53|32.0|Non-synonymous|Line Propagating
1864651|IGL00742|11|100093959|Q->R|0.99|Probably damaging|MGI:1858899|Krt35|keratin 35 [Source:MGI Symbol;Acc:MGI:1858899]|Heterozygous||T|C|50|36.5|Non-synonymous|Line Propagating
1864652|IGL00742|3|132671981|Q->Stop||N/A|MGI:102774|Aimp1|aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 [Source:MGI Symbol;Acc:MGI:102774]|Heterozygous|Mice homozygous for a gene trap allele display delayed wound healing and decreased inflammatory response after wounding.|G|A|48|35.0|Non-synonymous|Line Propagating
1864653|IGL00742|6|14718609|T->A|0.09|Benign|MGI:2153588|Ppp1r3a|protein phosphatase 1, regulatory (inhibitor) subunit 3A [Source:MGI Symbol;Acc:MGI:2153588]|Heterozygous|Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity.|T|C|48|40.0|Non-synonymous|Line Propagating
1864654|IGL00742|15|76589100|A->S|0.06|Benign|MGI:2679274|Adck5|aarF domain containing kinase 5 [Source:MGI Symbol;Acc:MGI:2679274]|Heterozygous||G|T|45|36.0|Non-synonymous|Line Propagating
1864655|IGL00742|1|191760209|E->G|0.37|Benign|MGI:2446186|Lpgat1|lysophosphatidylglycerol acyltransferase 1 [Source:MGI Symbol;Acc:MGI:2446186]|Heterozygous||A|G|35|37.0|Non-synonymous|Line Propagating
1864656|IGL00742|2|160893998|D->G|1.0|Probably damaging|MGI:1891342|Lpin3|lipin 3 [Source:MGI Symbol;Acc:MGI:1891342]|Heterozygous||A|G|35|38.0|Non-synonymous|Line Propagating
1864657|IGL00742|10|76492935|E->G|1.0|Probably damaging|MGI:1930089|Mcm3ap|minichromosome maintenance deficient 3 (S. cerevisiae) associated protein [Source:MGI Symbol;Acc:MGI:1930089]|Heterozygous|Mice homozygous for a null allele die by E12.|A|G|28|38.5|Non-synonymous|Line Propagating
1864658|IGL00742|14|103201352|L->S|1.0|Probably damaging|MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|A|G|28|37.0|Non-synonymous|Line Propagating
1864659|IGL00742|1|110065626|N->K|0.04|Benign|MGI:2442792|Cdh7|cadherin 7, type 2 [Source:MGI Symbol;Acc:MGI:2442792]|Heterozygous||T|G|27|39.0|Non-synonymous|Line Propagating
1864660|IGL00742|5|65971115|E->G|0.97|Probably damaging|MGI:1202403|Chrna9|cholinergic receptor, nicotinic, alpha polypeptide 9 [Source:MGI Symbol;Acc:MGI:1202403]|Heterozygous|Homozygous mutation of this gene results in abnormal innervation of the outer hair cells and depressed olivocochlear response.|A|G|27|36.0|Non-synonymous|Line Propagating
1864661|IGL00742|9|9976297|T->K|0.88|Possibly damaging|MGI:3042287|Cntn5|contactin 5 [Source:MGI Symbol;Acc:MGI:3042287]|Heterozygous||G|T|19|34.0|Non-synonymous|Line Propagating
1864662|IGL00742|11|79503913|Disrupted splicing|||MGI:97306, MGI:106586|Omg,nf1|neurofibromatosis 1 [Source:MGI Symbol;Acc:MGI:97306],oligodendrocyte myelin glycoprotein [Source:MGI Symbol;Acc:MGI:106586]|Heterozygous|Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits.,Mice homozygous for a null allele exhibit improved recovery from spinal cord injuries when on a mixed 129S4/SvJae C57BL/6 background.|T|A|124|35.0|Splice|Line Propagating
1864663|IGL00742|6|38031017|Disrupted splicing|||MGI:2444335|Svopl|SV2 related protein homolog (rat)-like [Source:MGI Symbol;Acc:MGI:2444335]|Heterozygous||A|G|70|35.0|Splice|Line Propagating
1864664|IGL00742|14|57481386|Disrupted splicing|||MGI:98715|Ift88|intraflagellar transport 88 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:98715]|Heterozygous|Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.|T|A|23|39.0|Splice|Line Propagating
5108739|IGL00886|13|24962353|Y->Stop||N/A|MGI:106604|Gpld1|glycosylphosphatidylinositol specific phospholipase D1 [Source:MGI Symbol;Acc:MGI:106604]|Heterozygous||T|A|112|38.0|Non-synonymous|Line Propagating
5108740|IGL00886|6|67473890|Q->K|0.92|Possibly damaging|MGI:2181693|Il23r|interleukin 23 receptor [Source:MGI Symbol;Acc:MGI:2181693]|Heterozygous|Th17 T cells from homozygous null mice have less secretion of IL-9 upon secondary stimulation.|G|T|95|39.0|Non-synonymous|Line Propagating
5108741|IGL00886|7|112315072|N->K||Benign|MGI:2444947|Mical2|microtubule associated monoxygenase, calponin and LIM domain containing 2 [Source:MGI Symbol;Acc:MGI:2444947]|Heterozygous||T|A|94|38.0|Non-synonymous|Line Propagating
5108742|IGL00886|17|5126979|H->Q|0.9|Possibly damaging|MGI:1926129|Arid1b|AT rich interactive domain 1B (SWI-like) [Source:MGI Symbol;Acc:MGI:1926129]|Heterozygous||T|A|89|38.0|Non-synonymous|Line Propagating
5108743|IGL00886|8|117130637|W->R|1.0|Probably damaging|MGI:1926923|Bcmo1|beta-carotene 15,15'-monooxygenase [Source:MGI Symbol;Acc:MGI:1926923]|Heterozygous|Mice homozygous for a null mutation display fatty livers, elevated serum free fatty acid levels, increased susceptibility to diet-induced obesity, and impaired conversion of beta-carotene to vitamin A.|T|C|78|37.0|Non-synonymous|Line Propagating
5108744|IGL00886|2|73845503|T->I|0.99|Probably damaging|MGI:109349|Atf2|activating transcription factor 2 [Source:MGI Symbol;Acc:MGI:109349]|Heterozygous|Homozygous mutation of this gene results in increased postnatal lethality, skeletal development defects, runting, decreased hearing, inner ear and brain abnormalities, hyperactivity, and ataxia.|G|A|75|38.0|Non-synonymous|Line Propagating
5108745|IGL00886|13|81694677|Y->C|1.0|Probably damaging|MGI:1914736|Polr3g|polymerase (RNA) III (DNA directed) polypeptide G [Source:MGI Symbol;Acc:MGI:1914736]|Heterozygous||T|C|71|35.0|Non-synonymous|Line Propagating
5108746|IGL00886|14|57478068|Y->H|||MGI:98715|Ift88|intraflagellar transport 88 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:98715]|Heterozygous|Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.|T|C|65|39.0|Non-synonymous|Line Propagating
5108747|IGL00886|6|56173674|Y->H|0.97|Probably damaging|MGI:108413|Pde1c|phosphodiesterase 1C [Source:MGI Symbol;Acc:MGI:108413]|Heterozygous|Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination.|A|G|57|37.0|Non-synonymous|Line Propagating
5108748|IGL00886|12|51610150|Y->N|0.81|Possibly damaging|MGI:2151064|Strn3|striatin, calmodulin binding protein 3 [Source:MGI Symbol;Acc:MGI:2151064]|Heterozygous||A|T|53|39.0|Non-synonymous|Line Propagating
5108749|IGL00886|10|3540444|D->G||Benign|MGI:1917587|Iyd|iodotyrosine deiodinase [Source:MGI Symbol;Acc:MGI:1917587]|Heterozygous||T|C|49|35.0|Non-synonymous|Line Propagating
5108750|IGL00886|9|122271324|N->S||Benign|MGI:2143103|Ano10|anoctamin 10 [Source:MGI Symbol;Acc:MGI:2143103]|Heterozygous||T|C|49|39.0|Non-synonymous|Line Propagating
5108751|IGL00886|2|60424324|E->V|1.0|Probably damaging|MGI:102468|Pla2r1|phospholipase A2 receptor 1 [Source:MGI Symbol;Acc:MGI:102468]|Heterozygous|Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.|T|A|45|38.0|Non-synonymous|Line Propagating
5108752|IGL00886|16|88647379|V->E|0.41|Benign|MGI:1916783|Krtap26-1|keratin associated protein 26-1 [Source:MGI Symbol;Acc:MGI:1916783]|Heterozygous||A|T|39|35.0|Non-synonymous|Line Propagating
5108754|IGL00886|3|131249816|T->K||Benign|MGI:96009|Hadh|hydroxyacyl-Coenzyme A dehydrogenase [Source:MGI Symbol;Acc:MGI:96009]|Heterozygous||G|T|35|38.0|Non-synonymous|Line Propagating
5108755|IGL00886|7|59284737|F->I|1.0|Probably damaging|MGI:105098|Ube3a|ubiquitin protein ligase E3A [Source:MGI Symbol;Acc:MGI:105098]|Heterozygous|Mice with maternally inherited targeted null mutations exhibit reduced brain weight, impaired motor function, inducible seizures, learning deficits, abnormal hippocampal electroencephalographic recordings, and severely impaired long-term potentiation.|T|A|35|37.0|Non-synonymous|Line Propagating
5108756|IGL00886|7|80239352|L->R|1.0|Probably damaging|MGI:2443429|D330012f22rik|RIKEN cDNA D330012F22 gene [Source:MGI Symbol;Acc:MGI:2443429]|Heterozygous||T|G|35|36.0|Non-synonymous|Line Propagating
5108757|IGL00886|7|29024229|E->V|0.55|Possibly damaging|MGI:99659|Ryr1|ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]|Heterozygous|Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.|T|A|34|36.0|Non-synonymous|Line Propagating
5108758|IGL00886|2|134523159|M->V||Benign|MGI:96011|Hao1|hydroxyacid oxidase 1, liver [Source:MGI Symbol;Acc:MGI:96011]|Heterozygous|Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.|T|C|31|39.0|Non-synonymous|Line Propagating
5108759|IGL00886|17|35669982|H->R|1.0|Probably damaging|MGI:1338799|Gtf2h4|general transcription factor II H, polypeptide 4 [Source:MGI Symbol;Acc:MGI:1338799]|Heterozygous||T|C|30|35.0|Non-synonymous|Line Propagating
5108760|IGL00886|4|152359699|D->E||Benign|MGI:3036258|Chd5|chromodomain helicase DNA binding protein 5 [Source:MGI Symbol;Acc:MGI:3036258]|Heterozygous||T|A|29|35.0|Non-synonymous|Line Propagating
5108761|IGL00886|2|28559385|C->S|1.0|Probably damaging|MGI:88374|Cel|carboxyl ester lipase [Source:MGI Symbol;Acc:MGI:88374]|Heterozygous|Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption.|A|T|28|35.0|Non-synonymous|Line Propagating
5108763|IGL00886|2|71344032|Y->H|0.08|Benign|MGI:1926080|Slc25a12|solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:MGI Symbol;Acc:MGI:1926080]|Heterozygous|Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.|A|G|23|38.0|Non-synonymous|Line Propagating
5108764|IGL00886|5|139826336|D->V||Benign|MGI:1913756|Psmg3|proteasome (prosome, macropain) assembly chaperone 3 [Source:MGI Symbol;Acc:MGI:1913756]|Heterozygous||T|A|19|35.0|Non-synonymous|Line Propagating
5108765|IGL00886|15|9663095|G->W|1.0|Probably damaging|MGI:2443727|Spef2|sperm flagellar 2 [Source:MGI Symbol;Acc:MGI:2443727]|Heterozygous||C|A|18|38.5|Non-synonymous|Line Propagating
5108766|IGL00886|7|97400190|M->K|0.7|Possibly damaging|MGI:1344370|Ndufc2|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 [Source:MGI Symbol;Acc:MGI:1344370]|Heterozygous||T|A|15|34.0|Non-synonymous|Line Propagating
5108767|IGL00886|4|101447189|E->Stop||N/A|MGI:87979|Ak4|adenylate kinase 4 [Source:MGI Symbol;Acc:MGI:87979]|Heterozygous||G|T|14|33.5|Non-synonymous|Line Propagating
5108768|IGL00886|7|86307051|L->F|0.19|Benign|MGI:3030143|Olfr309|olfactory receptor 309 [Source:MGI Symbol;Acc:MGI:3030143]|Heterozygous||G|A|13|37.0|Non-synonymous|Line Propagating
5108769|IGL00886|15|76048794|D->G||Benign|MGI:2145950|Scrib|scribbled homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2145950]|Heterozygous|Mice homozygous for a spontaneous allele exhibit craniorachischisis, gastroschisis, and abnormal organ of Corti. Mice homozygous for another spontaneous allele exhibit prenatal lethality, abnormal brain morphology, and abnormal eye morphology.|T|C|12|39.0|Non-synonymous|Line Propagating
5108770|IGL00886|18|77002754|L->Q|1.0|Probably damaging|MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||A|T|12|36.0|Non-synonymous|Line Propagating
5108771|IGL00886|11|110163275|R->H|0.96|Probably damaging|MGI:2386796|Abca9|ATP-binding cassette, sub-family A (ABC1), member 9 [Source:MGI Symbol;Acc:MGI:2386796]|Heterozygous||C|T|10|41.0|Non-synonymous|Line Propagating
5108772|IGL00886|13|3893391|Disrupted splicing|||MGI:1927138|Net1|neuroepithelial cell transforming gene 1 [Source:MGI Symbol;Acc:MGI:1927138]|Heterozygous||A|G|112|38.0|Splice|Line Propagating
5108773|IGL00886|1|166680145|Disrupted splicing|||MGI:3606068|Fmo9|flavin containing monooxygenase 9 [Source:MGI Symbol;Acc:MGI:3606068]|Heterozygous||T|C|44|39.0|Splice|Line Propagating
5108774|IGL00886|8|119773268|Disrupted splicing|||MGI:1921597|4632415k11rik|RIKEN cDNA 4632415K11 gene [Source:MGI Symbol;Acc:MGI:1921597]|Heterozygous||T|C|32|35.0|Splice|Line Propagating
5108775|IGL00886|4|149493296|Disrupted splicing|||MGI:1916401|Lzic|leucine zipper and CTNNBIP1 domain containing [Source:MGI Symbol;Acc:MGI:1916401]|Heterozygous||T|C|24|36.5|Splice|Line Propagating
5108776|IGL00886|19|4110665|Disrupted splicing|||MGI:1197524|Pitpnm1|phosphatidylinositol transfer protein, membrane-associated 1 [Source:MGI Symbol;Acc:MGI:1197524]|Heterozygous||T|C|10|35.0|Splice|Line Propagating
5121784|IGL00897|17|18947659|I->T|0.84|Possibly damaging|MGI:3645271|Vmn2r97|vomeronasal 2, receptor 97 [Source:MGI Symbol;Acc:MGI:3645271]|Heterozygous||T|C|285|40.0|Non-synonymous|Line Propagating
5121785|IGL00897|9|19808621|V->G|0.78|Possibly damaging|MGI:3030693|Olfr859|olfactory receptor 859 [Source:MGI Symbol;Acc:MGI:3030693]|Heterozygous||T|G|151|39.0|Non-synonymous|Line Propagating
5121786|IGL00897|10|129945911|D->E|0.53|Possibly damaging|MGI:3030652|Olfr818|olfactory receptor 818 [Source:MGI Symbol;Acc:MGI:3030652]|Heterozygous||A|T|88|39.0|Non-synonymous|Line Propagating
5121787|IGL00897|2|135971798|T->A|0.01|Benign|MGI:107464|Plcb4|phospholipase C, beta 4 [Source:MGI Symbol;Acc:MGI:107464]|Heterozygous|Homozygotes for targeted mutations may exhibit ataxia, impaired elimination of excess climbing fiber synapses in the developing cerebellum, abnormal cerebellar foliation, reduced visual processing ability and loss of circadian rhythm in constant darkness.|A|G|78|37.0|Non-synonymous|Line Propagating
5121788|IGL00897|14|18214993|C->S||Benign|MGI:2449205|Nr1d2|nuclear receptor subfamily 1, group D, member 2 [Source:MGI Symbol;Acc:MGI:2449205]|Heterozygous||A|T|60|40.0|Non-synonymous|Line Propagating
5121789|IGL00897|9|107545528|N->K||Benign|MGI:1914482|Nprl2|nitrogen permease regulator-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914482]|Heterozygous||T|G|59|38.0|Non-synonymous|Line Propagating
5121790|IGL00897|11|55289252|E->G|0.17|Benign|MGI:2685369|Fat2|FAT tumor suppressor homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685369]|Heterozygous||T|C|51|40.0|Non-synonymous|Line Propagating
5121791|IGL00897|13|61037725|V->F|1.0|Probably damaging|MGI:2137385|Ctsq|cathepsin Q [Source:MGI Symbol;Acc:MGI:2137385]|Heterozygous||C|A|42|40.0|Non-synonymous|Line Propagating
5121792|IGL00897|1|87712114|T->A|0.91|Possibly damaging|MGI:107357|Inpp5d|inositol polyphosphate-5-phosphatase D [Source:MGI Symbol;Acc:MGI:107357]|Heterozygous|Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration and defective cytolysis by NK cells and CTLs.|A|G|41|39.0|Non-synonymous|Line Propagating
5121793|IGL00897|7|23577594|Y->F|0.99|Probably damaging|MGI:3782408|Vmn1r169|vomeronasal 1 receptor 169 [Source:MGI Symbol;Acc:MGI:3782408]|Heterozygous||A|T|41|39.0|Non-synonymous|Line Propagating
5121794|IGL00897|17|65256574|E->G|0.56|Possibly damaging|MGI:2685786|Tmem232|transmembrane protein 232 [Source:MGI Symbol;Acc:MGI:2685786]|Heterozygous||T|C|37|39.0|Non-synonymous|Line Propagating
5121795|IGL00897|12|85476346|T->I|1.0|Probably damaging|MGI:95574|Fos|FBJ osteosarcoma oncogene [Source:MGI Symbol;Acc:MGI:95574]|Heterozygous|Null mutants are growth-retarded, most dying perinatally. Survivors have osteopetrosis and abnormal tooth eruption, gametogenesis, hemopoiesis, behavior and photoreceptor apoptosis. Hippocampal-specific mutants have seizures and highly excitable neurons.|C|T|36|36.0|Non-synonymous|Line Propagating
5121796|IGL00897|10|50728091|E->D|0.1|Benign|MGI:1925237|Ascc3|activating signal cointegrator 1 complex subunit 3 [Source:MGI Symbol;Acc:MGI:1925237]|Heterozygous||A|T|34|41.0|Non-synonymous|Line Propagating
5121797|IGL00897|11|98327769|V->M|1.0|Probably damaging|MGI:107755|Neurod2|neurogenic differentiation 2 [Source:MGI Symbol;Acc:MGI:107755]|Heterozygous|Homozygotes for a targeted null mutation show elevated neuronal apoptosis resulting in ataxia, incoordination, elevated seizure susceptibility, and death by 35 days. Heterozygotes are moderately affected, and adults are subject to unexplained death.|C|T|34|37.0|Non-synonymous|Line Propagating
5121798|IGL00897|1|42905459|E->G|1.0|Probably damaging|MGI:1916777|Mrps9|mitochondrial ribosomal protein S9 [Source:MGI Symbol;Acc:MGI:1916777]|Heterozygous||A|G|31|37.0|Non-synonymous|Line Propagating
5121799|IGL00897|4|74373684|M->T|0.95|Probably damaging|MGI:1924054|Kdm4c|lysine (K)-specific demethylase 4C [Source:MGI Symbol;Acc:MGI:1924054]|Heterozygous||T|C|31|40.0|Non-synonymous|Line Propagating
5121800|IGL00897|11|34403011|V->A||Benign|MGI:3643491|Fam196b|family with sequence similarity 196, member B [Source:MGI Symbol;Acc:MGI:3643491]|Heterozygous||T|C|29|39.0|Non-synonymous|Line Propagating
5121801|IGL00897|4|132827902|A->V|0.98|Probably damaging|MGI:2140494|Ppp1r8|protein phosphatase 1, regulatory (inhibitor) subunit 8 [Source:MGI Symbol;Acc:MGI:2140494]|Heterozygous|Mice homozygouse for disruptions in this gene die between embryonic days 6.5 and 7.5.|G|A|28|37.0|Non-synonymous|Line Propagating
5121802|IGL00897|5|38144716|V->D|0.98|Probably damaging|MGI:109149|Nsg1|neuron specific gene family member 1 [Source:MGI Symbol;Acc:MGI:109149]|Heterozygous||A|T|28|35.0|Non-synonymous|Line Propagating
5121803|IGL00897|11|105100021|D->N|0.91|Possibly damaging|MGI:1918144|Efcab3|EF-hand calcium binding domain 3 [Source:MGI Symbol;Acc:MGI:1918144]|Heterozygous||G|A|26|40.0|Non-synonymous|Line Propagating
5121804|IGL00897|5|147589854|Y->F|0.99|Probably damaging|MGI:95558|Flt1|FMS-like tyrosine kinase 1 [Source:MGI Symbol;Acc:MGI:95558]|Heterozygous|Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.|T|A|25|36.0|Non-synonymous|Line Propagating
5121805|IGL00897|1|139477407|I->T|0.77|Possibly damaging|MGI:1334448|Aspm|asp (abnormal spindle)-like, microcephaly associated (Drosophila) [Source:MGI Symbol;Acc:MGI:1334448]|Heterozygous||T|C|19|39.0|Non-synonymous|Line Propagating
5121806|IGL00897|8|10315518|L->P|1.0|Probably damaging|MGI:2685951|Myo16|myosin XVI [Source:MGI Symbol;Acc:MGI:2685951]|Heterozygous||T|C|19|39.0|Non-synonymous|Line Propagating
5121807|IGL00897|2|69521881|F->L|0.14|Benign|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|A|G|18|38.0|Non-synonymous|Line Propagating
5121808|IGL00897|3|101823455|R->L|1.0|Probably damaging|MGI:2446273|Mab21l3|mab-21-like 3 (C. elegans) [Source:MGI Symbol;Acc:MGI:2446273]|Heterozygous||C|A|14|38.0|Non-synonymous|Line Propagating
5121809|IGL00897|17|23737570|D->G|0.94|Possibly damaging|MGI:1923748|Paqr4|progestin and adipoQ receptor family member IV [Source:MGI Symbol;Acc:MGI:1923748]|Heterozygous||T|C|13|40.0|Non-synonymous|Line Propagating
5121810|IGL00897|1|67215564|D->G||Benign|MGI:891996|Cps1|carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]|Heterozygous|Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.|A|G|12|39.5|Non-synonymous|Line Propagating
5121811|IGL00897|10|99015020|I->T|||MGI:104653|Atp2b1|ATPase, Ca++ transporting, plasma membrane 1 [Source:MGI Symbol;Acc:MGI:104653]|Heterozygous|Homozygous null mice display embryonic lethality.|T|C|12|37.5|Non-synonymous|Line Propagating
5121812|IGL00897|18|60912430|Y->C|1.0|Probably damaging|MGI:2670959|Arsi|arylsulfatase i [Source:MGI Symbol;Acc:MGI:2670959]|Heterozygous||A|G|12|37.0|Non-synonymous|Line Propagating
5121813|IGL00897|7|74504183|Y->N|1.0|Probably damaging|MGI:1351867|Slco3a1|solute carrier organic anion transporter family, member 3a1 [Source:MGI Symbol;Acc:MGI:1351867]|Heterozygous||A|T|12|39.0|Non-synonymous|Line Propagating
5121814|IGL00897|5|24429559|Y->Stop||N/A|MGI:109351|Slc4a2|solute carrier family 4 (anion exchanger), member 2 [Source:MGI Symbol;Acc:MGI:109351]|Heterozygous|Mice homozygous for a mutant allele display male infertility associated with disrupted spermiogenesis and germ cell apoptosis. However, mice homozygous for a null allele display perinatal and postnatal lethality, loss of gastric acid secretion, failure of tooth eruption, aphagia, and deafness.|T|A|11|39.0|Non-synonymous|Line Propagating
5121815|IGL00897|17|19065745|Disrupted splicing|||MGI:3647977|Vmn2r98|vomeronasal 2, receptor 98 [Source:MGI Symbol;Acc:MGI:3647977]|Heterozygous||T|A|120|40.0|Splice|Line Propagating
5121816|IGL00897|7|120216125|Disrupted splicing|||MGI:2388708|Abca14|ATP-binding cassette, sub-family A (ABC1), member 14 [Source:MGI Symbol;Acc:MGI:2388708]|Heterozygous||T|C|48|40.0|Splice|Line Propagating
5121817|IGL00897|6|50229284|Disrupted splicing|||MGI:1889850|Dfna5|deafness, autosomal dominant 5 (human) [Source:MGI Symbol;Acc:MGI:1889850]|Heterozygous|Homozygous null mice display abnormal numbers of cochlear hair cell but have normal hearing.|A|G|33|37.0|Splice|Line Propagating
5121818|IGL00897|4|132000197|Disrupted splicing|||MGI:95401|Epb4.1|erythrocyte protein band 4.1 [Source:MGI Symbol;Acc:MGI:95401]|Heterozygous|Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin.|T|A|27|37.0|Splice|Line Propagating
5121819|IGL00897|13|100785911|Disrupted splicing|||MGI:88302|Ccnb1|cyclin B1 [Source:MGI Symbol;Acc:MGI:88302]|Heterozygous|Homozygous mutation of this gene is embryonic lethal.|A|G|13|41.0|Splice|Line Propagating
5123032|IGL00899|7|3913057|T->S|0.96|Probably damaging|MGI:1195969|Lilra6|leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 [Source:MGI Symbol;Acc:MGI:1195969]|Heterozygous||T|A|175|39.0|Non-synonymous|Line Propagating
5123033|IGL00899|X|7896004|N->S||Benign|MGI:1859638|Pqbp1|polyglutamine binding protein 1 [Source:MGI Symbol;Acc:MGI:1859638]|Heterozygous||T|C|148|40.0|Non-synonymous|Line Propagating
5123034|IGL00899|12|105204657|T->A|1.0|Probably damaging|MGI:1351604|Tcl1b4|T-cell leukemia/lymphoma 1B, 4 [Source:MGI Symbol;Acc:MGI:1351604]|Heterozygous||A|G|97|38.0|Non-synonymous|Line Propagating
5123035|IGL00899|7|85957130|I->K|0.16|Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||A|T|72|39.0|Non-synonymous|Line Propagating
5123036|IGL00899|11|115447665|N->K|0.12|Benign|MGI:3588186|4933422h20rik|RIKEN cDNA 4933422H20 gene [Source:MGI Symbol;Acc:MGI:3588186]|Heterozygous||T|G|66|40.0|Non-synonymous|Line Propagating
5123037|IGL00899|4|25262238|D->G|0.43|Benign|MGI:1914740|1810074p20rik|RIKEN cDNA 1810074P20 gene [Source:MGI Symbol;Acc:MGI:1914740]|Heterozygous||T|C|64|40.5|Non-synonymous|Line Propagating
5123038|IGL00899|3|55642845|S->P|0.98|Probably damaging|MGI:1347075|Nbea|neurobeachin [Source:MGI Symbol;Acc:MGI:1347075]|Heterozygous|Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.|A|G|58|39.0|Non-synonymous|Line Propagating
5123039|IGL00899|15|91497399|T->A||Benign|MGI:2146030|Slc2a13|solute carrier family 2 (facilitated glucose transporter), member 13 [Source:MGI Symbol;Acc:MGI:2146030]|Heterozygous||T|C|54|37.0|Non-synonymous|Line Propagating
5123040|IGL00899|2|36870210|I->L|0.38|Benign|MGI:3030186|Olfr352|olfactory receptor 352 [Source:MGI Symbol;Acc:MGI:3030186]|Heterozygous||A|T|51|39.0|Non-synonymous|Line Propagating
5123041|IGL00899|7|118722684|C->S||Benign|MGI:2141942|6330503k22rik|RIKEN cDNA 6330503K22 gene [Source:MGI Symbol;Acc:MGI:2141942]|Heterozygous||T|A|51|39.0|Non-synonymous|Line Propagating
5123042|IGL00899|13|27122349|S->P||Unknown|MGI:2660935|Prl3d2|prolactin family 3, subfamily d, member 1 [Source:MGI Symbol;Acc:MGI:2660935]|Heterozygous||T|C|48|37.5|Non-synonymous|Line Propagating
5123043|IGL00899|10|128517063|L->P|1.0|Probably damaging|MGI:1344426|Esyt1|extended synaptotagmin-like protein 1 [Source:MGI Symbol;Acc:MGI:1344426]|Heterozygous||A|G|47|39.0|Non-synonymous|Line Propagating
5123044|IGL00899|18|84677376|D->E|1.0|Probably damaging|MGI:1913304|Cndp2|CNDP dipeptidase 2 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:1913304]|Heterozygous||A|T|46|37.0|Non-synonymous|Line Propagating
5123045|IGL00899|8|22660447|S->G|0.96|Probably damaging|MGI:1338071|Ikbkb|inhibitor of kappaB kinase beta [Source:MGI Symbol;Acc:MGI:1338071]|Heterozygous|Homozygotes for targeted null mutations exhibit liver degeneration and die in midgestation. Conditional mutations that lack gene expression in lymphoid cells or epidermal keratinocytes exhibit B and T cell deficits and skin inflammation, respectively.|T|C|46|40.0|Non-synonymous|Line Propagating
5123046|IGL00899|13|12435176|A->V|0.1|Benign|MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||C|T|44|39.5|Non-synonymous|Line Propagating
5123047|IGL00899|6|48753173|A->T|0.01|Benign|MGI:2442232|Gimap5|GTPase, IMAP family member 5 [Source:MGI Symbol;Acc:MGI:2442232]|Heterozygous|Mice homozygouse for a knock-out allele display defects in lymphocyte development with hematopoietic defects and reduced life span. Mice homozygous for an ENU-induced allele exhibit premature death associated with extramedullary hematopoiesis in the liver, anemia, cachexia, and colitis.|G|A|39|39.0|Non-synonymous|Line Propagating
5123048|IGL00899|8|77675071|G->R|1.0|Probably damaging|MGI:105923|Ednra|endothelin receptor type A [Source:MGI Symbol;Acc:MGI:105923]|Heterozygous|Mice with null mutations in this gene die perinatally with cardiac and craniofacial malformations.|C|T|39|38.0|Non-synonymous|Line Propagating
5123049|IGL00899|2|37436258|Y->Stop||N/A|MGI:2444402|Zbtb26|zinc finger and BTB domain containing 26 [Source:MGI Symbol;Acc:MGI:2444402]|Heterozygous||G|T|38|40.0|Non-synonymous|Line Propagating
5123050|IGL00899|3|107458463|D->V|1.0|Probably damaging|MGI:96670|Kcnc4|potassium voltage gated channel, Shaw-related subfamily, member 4 [Source:MGI Symbol;Acc:MGI:96670]|Heterozygous||T|A|37|38.0|Non-synonymous|Line Propagating
5123051|IGL00899|15|85844462|I->N|0.63|Possibly damaging|MGI:2146198|Ttc38|tetratricopeptide repeat domain 38 [Source:MGI Symbol;Acc:MGI:2146198]|Heterozygous||T|A|31|40.0|Non-synonymous|Line Propagating
5123053|IGL00899|7|101829158|I->N|1.0|Probably damaging|MGI:1333787|Inppl1|inositol polyphosphate phosphatase-like 1 [Source:MGI Symbol;Acc:MGI:1333787]|Heterozygous|Homozygous mice display decreased postnatal growth, decreased circulating levels of leptin, free fatty acids, triglycerides, and total cholesterol, and resistance to diet-induced obesity.|A|T|28|37.0|Non-synonymous|Line Propagating
5123054|IGL00899|11|34205772|T->I|0.02|Benign|MGI:1096329|Foxi1|forkhead box I1 [Source:MGI Symbol;Acc:MGI:1096329]|Heterozygous|Homozygotes exhibit 50% perinatal lethality and inner ear defects resulting in vestibular and cochlear dysfunction. They are deaf with signs of impaired balance, and develop renal tubular acidosis in response to a chronic acidic load. Notably, 25% of heterozygotes die at birth.|G|A|27|37.0|Non-synonymous|Line Propagating
5123055|IGL00899|16|22806562|E->G|0.64|Possibly damaging|MGI:1298216|Crygs|crystallin, gamma S [Source:MGI Symbol;Acc:MGI:1298216]|Heterozygous|Heterozygotes for an ethylnitrosourea-induced, amino acid replacement mutation exhibit a mild, slowly progressive cataract. Homozygotes exhibit a more severe cataract which progresses to total opacity by 3.5 months.|T|C|27|39.0|Non-synonymous|Line Propagating
5123056|IGL00899|1|180332993|L->P||Benign|MGI:109235|Itpkb|inositol 1,4,5-trisphosphate 3-kinase B [Source:MGI Symbol;Acc:MGI:109235]|Heterozygous|Homozygous mutation of this gene results in a block of thymocyte development at the double positive stage.|T|C|26|39.0|Non-synonymous|Line Propagating
5123057|IGL00899|4|55007732|V->E|0.11|Benign|MGI:107690|Zfp462|zinc finger protein 462 [Source:MGI Symbol;Acc:MGI:107690]|Heterozygous||T|A|26|40.0|Non-synonymous|Line Propagating
5123058|IGL00899|7|141812703|V->D|0.98|Probably damaging|MGI:104697|Muc5ac|mucin 5, subtypes A and C, tracheobronchial/gastric [Source:MGI Symbol;Acc:MGI:104697]|Heterozygous||T|A|22|37.5|Non-synonymous|Line Propagating
5123059|IGL00899|7|3158763|I->T||Benign|MGI:2142124|Au018091|expressed sequence AU018091 [Source:MGI Symbol;Acc:MGI:2142124]|Heterozygous||A|G|21|40.0|Non-synonymous|Line Propagating
5123060|IGL00899|9|32752808|P->L|1.0|Probably damaging|MGI:95455|Ets1|E26 avian leukemia oncogene 1, 5' domain [Source:MGI Symbol;Acc:MGI:95455]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced numbers of peripheral CD8+ T cells, impaired TCR-mediated activation of both CD4+ and CD8+ T cells, increased numbers of IgM-secreting plasma cells, and severely impaired NK cell development.|C|T|18|40.5|Non-synonymous|Line Propagating
5123061|IGL00899|11|54620018|E->Stop||N/A|MGI:2384761|Rapgef6|Rap guanine nucleotide exchange factor (GEF) 6 [Source:MGI Symbol;Acc:MGI:2384761]|Heterozygous|Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.|G|T|17|38.0|Non-synonymous|Line Propagating
5123062|IGL00899|4|126707557|I->T|0.46|Possibly damaging|MGI:1347045|Psmb2|proteasome (prosome, macropain) subunit, beta type 2 [Source:MGI Symbol;Acc:MGI:1347045]|Heterozygous||T|C|15|39.0|Non-synonymous|Line Propagating
5123063|IGL00899|6|122315395|E->G|0.97|Probably damaging|MGI:96904|M6pr|mannose-6-phosphate receptor, cation dependent [Source:MGI Symbol;Acc:MGI:96904]|Heterozygous|Mice homozygous for disruptions in this gene are fertile and display no visible phenotypic abnormalities; however, serum levels of lysosomal enzymes are elevated.|A|G|13|40.0|Non-synonymous|Line Propagating
5123064|IGL00899|2|161029298|Disrupted splicing|||MGI:1918639|Chd6|chromodomain helicase DNA binding protein 6 [Source:MGI Symbol;Acc:MGI:1918639]|Heterozygous|Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia.|A|G|100|40.0|Splice|Line Propagating
5123065|IGL00899|2|154264727|Disrupted splicing|||MGI:3767993, MGI:104739, MGI:3762229, MGI:3526919, MGI:2149372, MGI:3582466, MGI:3624657, MGI:3582467, MGI:3759761|4833413d08rik|RIKEN cDNA 4833413D08 gene [Source:MGI Symbol;Acc:MGI:3767993]|Heterozygous||T|C|44|39.0|Splice|Line Propagating
5123066|IGL00899|15|66674073|Disrupted splicing|||MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|T|C|35|35.0|Splice|Line Propagating
5123067|IGL00899|7|29152853|Disrupted splicing|||MGI:1921083|Fam98c|family with sequence similarity 98, member C [Source:MGI Symbol;Acc:MGI:1921083]|Heterozygous||A|G|35|39.0|Splice|Line Propagating
5123068|IGL00899|8|124688847|Disrupted splicing|||MGI:2384573|Ttc13|tetratricopeptide repeat domain 13 [Source:MGI Symbol;Acc:MGI:2384573]|Heterozygous||C|T|25|40.0|Splice|Line Propagating
5123069|IGL00899|7|30789962|Disrupted splicing|||MGI:1928282|Krtdap|keratinocyte differentiation associated protein [Source:MGI Symbol;Acc:MGI:1928282]|Heterozygous||T|A|20|38.0|Splice|Line Propagating
5123648|IGL00900|3|87683560|D->G|0.12|Benign|MGI:2441869|Arhgef11|Rho guanine nucleotide exchange factor (GEF) 11 [Source:MGI Symbol;Acc:MGI:2441869]|Heterozygous||A|G|98|38.0|Non-synonymous|Line Propagating
5123649|IGL00900|2|88149260|F->S|0.34|Benign|MGI:3031001|Olfr1167|olfactory receptor 1167 [Source:MGI Symbol;Acc:MGI:3031001]|Heterozygous||A|G|94|39.0|Non-synonymous|Line Propagating
5123651|IGL00900|11|82981371|C->Stop||N/A|MGI:2445121|Slfn9|schlafen 9 [Source:MGI Symbol;Acc:MGI:2445121]|Heterozygous||A|T|70|39.0|Non-synonymous|Line Propagating
5123652|IGL00900|18|21020960|D->E|0.93|Possibly damaging|MGI:1929211|Rnf138|ring finger protein 138 [Source:MGI Symbol;Acc:MGI:1929211]|Heterozygous||T|A|64|40.5|Non-synonymous|Line Propagating
5123653|IGL00900|14|16242023|S->P|0.97|Probably damaging|MGI:1918397|Oxsm|3-oxoacyl-ACP synthase, mitochondrial [Source:MGI Symbol;Acc:MGI:1918397]|Heterozygous||A|G|61|39.0|Non-synonymous|Line Propagating
5123654|IGL00900|5|21980117|V->A|||MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|A|G|58|40.0|Non-synonymous|Line Propagating
5123655|IGL00900|8|93217617|H->R|0.99|Probably damaging|MGI:95432|Ces1e|carboxylesterase 1E [Source:MGI Symbol;Acc:MGI:95432]|Heterozygous|Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver.|T|C|57|38.0|Non-synonymous|Line Propagating
5123656|IGL00900|13|106847444|M->V|0.79|Possibly damaging|MGI:2442377|Ipo11|importin 11 [Source:MGI Symbol;Acc:MGI:2442377]|Heterozygous||T|C|55|40.0|Non-synonymous|Line Propagating
5123657|IGL00900|2|44997275|D->G|1.0|Probably damaging|MGI:1344407|Zeb2|zinc finger E-box binding homeobox 2 [Source:MGI Symbol;Acc:MGI:1344407]|Heterozygous|Homozygous null mutants exhibit a variety of defects at embryonic day 8.5 and die between embryonic days 9.5 and 10.5.|T|C|55|40.0|Non-synonymous|Line Propagating
5123658|IGL00900|11|67179384|V->A|0.99|Probably damaging|MGI:1339710|Myh2|myosin, heavy polypeptide 2, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339710]|Heterozygous||T|C|50|39.0|Non-synonymous|Line Propagating
5123659|IGL00900|11|77023180|T->S||Benign|MGI:96285|Slc6a4|solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 [Source:MGI Symbol;Acc:MGI:96285]|Heterozygous|Homozygotes for a targeted null mutation exhibit greatly diminished brain serotonin levels and lack cortical barrel patterns. Also, mutants lack the locomotor enhancing response to the drug (+)-3,4-methylenedioxymethamphetamine.|A|T|49|39.0|Non-synonymous|Line Propagating
5123660|IGL00900|11|78371283|G->S|1.0|Probably damaging|MGI:102949|Foxn1|forkhead box N1 [Source:MGI Symbol;Acc:MGI:102949]|Heterozygous|Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses.|C|T|39|37.0|Non-synonymous|Line Propagating
5123661|IGL00900|2|33243772|M->L||Benign|MGI:1347002, MGI:1922008|Angptl2,ralgps1|angiopoietin-like 2 [Source:MGI Symbol;Acc:MGI:1347002],Ral GEF with PH domain and SH3 binding motif 1 [Source:MGI Symbol;Acc:MGI:1922008]|Heterozygous|NO_PHENOTYPE,When fed a high-fat diet, mice homozygous for a knock-out allele show decreased weight gain, reduced adipocity, a lower respiratory quotient, reduced inflammation in adipose tissues, enhanced glucose tolerance, and increased insulin sensitivity in both skeletal muscle and liver relative to controls.|A|T|37|38.0|Non-synonymous|Line Propagating
5123662|IGL00900|3|46447072|I->F|0.02|Benign|MGI:3643087|Pabpc4l|poly(A) binding protein, cytoplasmic 4-like [Source:MGI Symbol;Acc:MGI:3643087]|Heterozygous||T|A|37|39.0|Non-synonymous|Line Propagating
5123664|IGL00900|19|47314155|N->Y|0.04|Benign|MGI:1298393|Sh3pxd2a|SH3 and PX domains 2A [Source:MGI Symbol;Acc:MGI:1298393]|Heterozygous||T|A|34|37.0|Non-synonymous|Line Propagating
5123665|IGL00900|17|20914132|F->L|0.8|Possibly damaging|MGI:2159625|Vmn1r232|vomeronasal 1 receptor 232 [Source:MGI Symbol;Acc:MGI:2159625]|Heterozygous||A|G|33|40.0|Non-synonymous|Line Propagating
5123666|IGL00900|1|84724764|S->P||Benign|MGI:1309481|Trip12|thyroid hormone receptor interactor 12 [Source:MGI Symbol;Acc:MGI:1309481]|Heterozygous||A|G|29|40.0|Non-synonymous|Line Propagating
5123667|IGL00900|4|89172357|Y->Stop||N/A|MGI:1914152|Mtap|methylthioadenosine phosphorylase [Source:MGI Symbol;Acc:MGI:1914152]|Heterozygous|Mice homozygous for a gene trapped allele die by E8.5. Heterozygotes display no significant hearing loss up to 6 months of age.|T|A|29|40.0|Non-synonymous|Line Propagating
5123668|IGL00900|10|112097982|Y->H||Benign|MGI:1914787|Glipr1l2|GLI pathogenesis-related 1 like 2 [Source:MGI Symbol;Acc:MGI:1914787]|Heterozygous||T|C|28|38.0|Non-synonymous|Line Propagating
5123669|IGL00900|12|84355969|I->V|0.15|Benign|MGI:2443027|Fam161b|family with sequence similarity 161, member B [Source:MGI Symbol;Acc:MGI:2443027]|Heterozygous||T|C|23|39.0|Non-synonymous|Line Propagating
5123670|IGL00900|12|69303534|F->I||Benign|MGI:1916804|Klhdc2|kelch domain containing 2 [Source:MGI Symbol;Acc:MGI:1916804]|Heterozygous||T|A|21|39.0|Non-synonymous|Line Propagating
5123671|IGL00900|4|88129023|N->K|0.93|Possibly damaging|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||T|A|21|40.0|Non-synonymous|Line Propagating
5123672|IGL00900|15|103243739|Y->C|0.49|Possibly damaging|MGI:104820|Hnrnpa1|heterogeneous nuclear ribonucleoprotein A1 [Source:MGI Symbol;Acc:MGI:104820]|Heterozygous||A|G|18|40.5|Non-synonymous|Line Propagating
5123673|IGL00900|15|98898220|L->P||Unknown|MGI:94891|Dhh|desert hedgehog [Source:MGI Symbol;Acc:MGI:94891]|Heterozygous|Homozygous null mutants are male sterile, failing to produce mature spermatozoa; peripheral nerves are abnormal, with thin and disorganized perineurial sheaths. High penetrance of pseudohermaphroditism observed on some mixed backgrounds.|A|G|17|35.0|Non-synonymous|Line Propagating
5123674|IGL00900|15|98554633|V->A|1.0|Probably damaging|MGI:1328363|Ccnt1|cyclin T1 [Source:MGI Symbol;Acc:MGI:1328363]|Heterozygous||A|G|16|37.5|Non-synonymous|Line Propagating
5123675|IGL00900|1|157411929|S->P|0.5|Possibly damaging|MGI:2443881|Rasal2|RAS protein activator like 2 [Source:MGI Symbol;Acc:MGI:2443881]|Heterozygous||A|G|15|35.0|Non-synonymous|Line Propagating
5123676|IGL00900|13|89289533|H->N|0.11|Benign|MGI:1329025|Edil3|EGF-like repeats and discoidin I-like domains 3 [Source:MGI Symbol;Acc:MGI:1329025]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype.|C|A|11|39.0|Non-synonymous|Line Propagating
5123677|IGL00900|5|125025784|Y->N|||MGI:1337080|Ncor2|nuclear receptor co-repressor 2 [Source:MGI Symbol;Acc:MGI:1337080]|Heterozygous|Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects.|A|T|11|37.0|Non-synonymous|Line Propagating
5123679|IGL00900|8|125863236|Disrupted splicing|||MGI:2445010|Pcnxl2|pecanex-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2445010]|Heterozygous||A|G|65|39.0|Splice|Line Propagating
5123680|IGL00900|5|24476368|Disrupted splicing|||MGI:2183446|Agap3|ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Source:MGI Symbol;Acc:MGI:2183446]|Heterozygous||G|A|50|39.0|Splice|Line Propagating
5123681|IGL00900|11|84470557|Disrupted splicing|||MGI:1929608|Aatf|apoptosis antagonizing transcription factor [Source:MGI Symbol;Acc:MGI:1929608]|Heterozygous|Homozygous embryos do not develop past the compacted morula stage, and after failing to maintain compaction. Mutant embryos show abnormal morphology at E3.5, with most not forming a blastocoel cavity. Severely reduced cell proliferation is observed before blastocyst formation.|T|C|15|37.0|Splice|Line Propagating
5124236|IGL00901|9|109156399|C->G||Benign|MGI:2443323|Fbxw21|F-box and WD-40 domain protein 21 [Source:MGI Symbol;Acc:MGI:2443323]|Heterozygous||A|C|132|40.5|Non-synonymous|Line Propagating
5124238|IGL00901|11|60941921|S->P|0.32|Benign|MGI:1346868|Map2k3|mitogen-activated protein kinase kinase 3 [Source:MGI Symbol;Acc:MGI:1346868]|Heterozygous|Mice homozygous for disruptions in this gene are viable and fertile but display abnormalities in cytokine production.|T|C|111|39.0|Non-synonymous|Line Propagating
5124239|IGL00901|8|104965129|Y->C|0.39|Benign|MGI:1919611|Ces2g|carboxylesterase 2G [Source:MGI Symbol;Acc:MGI:1919611]|Heterozygous||A|G|99|40.0|Non-synonymous|Line Propagating
5124240|IGL00901|17|37904257|V->D|0.12|Benign|MGI:2177510|Olfr127|olfactory receptor 127 [Source:MGI Symbol;Acc:MGI:2177510]|Heterozygous||T|A|94|37.0|Non-synonymous|Line Propagating
5124241|IGL00901|2|87810648|Y->C|0.74|Possibly damaging|MGI:3030979|Olfr1145|olfactory receptor 1145 [Source:MGI Symbol;Acc:MGI:3030979]|Heterozygous||A|G|76|39.0|Non-synonymous|Line Propagating
5124242|IGL00901|12|84106476|Y->C|0.07|Benign|MGI:1921287|Acot6|acyl-CoA thioesterase 6 [Source:MGI Symbol;Acc:MGI:1921287]|Heterozygous||A|G|72|39.0|Non-synonymous|Line Propagating
5124243|IGL00901|7|26198505|I->F|1.0|Probably damaging|MGI:88600|Cyp2b9|cytochrome P450, family 2, subfamily b, polypeptide 9 [Source:MGI Symbol;Acc:MGI:88600]|Heterozygous||A|T|56|41.0|Non-synonymous|Line Propagating
5124244|IGL00901|7|24912693|E->G|1.0|Probably damaging|MGI:1353510|Arhgef1|Rho guanine nucleotide exchange factor (GEF) 1 [Source:MGI Symbol;Acc:MGI:1353510]|Heterozygous|Homozygous mutation of this gene results in impaired humoral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation.|A|G|51|38.0|Non-synonymous|Line Propagating
5124245|IGL00901|17|37313707|K->Q|0.96|Probably damaging|MGI:2177485|Olfr102|olfactory receptor 102 [Source:MGI Symbol;Acc:MGI:2177485]|Heterozygous||T|G|48|40.0|Non-synonymous|Line Propagating
5124246|IGL00901|10|84631796|I->T|0.99|Probably damaging|MGI:1917678|Polr3b|polymerase (RNA) III (DNA directed) polypeptide B [Source:MGI Symbol;Acc:MGI:1917678]|Heterozygous||T|C|43|40.0|Non-synonymous|Line Propagating
5124247|IGL00901|14|57444445|F->I|||MGI:98715|Ift88|intraflagellar transport 88 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:98715]|Heterozygous|Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.|T|A|40|41.0|Non-synonymous|Line Propagating
5124248|IGL00901|13|34894482|Y->N||Unknown|MGI:109584|Prpf4b|PRP4 pre-mRNA processing factor 4 homolog B (yeast) [Source:MGI Symbol;Acc:MGI:109584]|Heterozygous||T|A|37|39.0|Non-synonymous|Line Propagating
5124249|IGL00901|4|148146143|I->F|0.99|Probably damaging|MGI:1354743|Fbxo6|F-box protein 6 [Source:MGI Symbol;Acc:MGI:1354743]|Heterozygous||T|A|36|39.5|Non-synonymous|Line Propagating
5124250|IGL00901|6|119960708|Q->L|0.92|Possibly damaging|MGI:2442092|Wnk1|WNK lysine deficient protein kinase 1 [Source:MGI Symbol;Acc:MGI:2442092]|Heterozygous|Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride.|T|A|36|40.0|Non-synonymous|Line Propagating
5124251|IGL00901|2|117285130|K->R|0.71|Possibly damaging|MGI:1314635|Rasgrp1|RAS guanyl releasing protein 1 [Source:MGI Symbol;Acc:MGI:1314635]|Heterozygous|Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes.|T|C|35|39.0|Non-synonymous|Line Propagating
5124252|IGL00901|8|84166771|D->G|0.51|Possibly damaging|MGI:1921916|4930432k21rik|RIKEN cDNA 4930432K21 gene [Source:MGI Symbol;Acc:MGI:1921916]|Heterozygous||A|G|35|38.0|Non-synonymous|Line Propagating
5124253|IGL00901|X|74229928|S->P|0.03|Benign|MGI:95556|Flna|filamin, alpha [Source:MGI Symbol;Acc:MGI:95556]|Heterozygous|Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum.|A|G|32|40.0|Non-synonymous|Line Propagating
5124254|IGL00901|6|13628749|H->N|1.0|Probably damaging|MGI:2141466|B630005n14rik|RIKEN cDNA B630005N14 gene [Source:MGI Symbol;Acc:MGI:2141466]|Heterozygous||G|T|31|40.0|Non-synonymous|Line Propagating
5124255|IGL00901|1|107540996|K->R||Benign|MGI:3531331, MGI:3046813, MGI:3583100, MGI:2387105, MGI:3026891, MGI:3526906, MGI:3042876, MGI:3511869, MGI:3042878, MGI:2138648, MGI:2681004|Serpinb10-ps|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10, pseudogene [Source:MGI Symbol;Acc:MGI:2138648]|Heterozygous||A|G|30|40.0|Non-synonymous|Line Propagating
5124256|IGL00901|8|34838395|Y->Stop||N/A|MGI:1341087|Tnks|tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase [Source:MGI Symbol;Acc:MGI:1341087]|Heterozygous|Mice homozygous for a null allele fail to exhibit any abonormalities. Male mice homozygous for a gene trapped allele exhibit decreased fat pad weight, increased metabolism, hyperinsulinemia, and hypoglycemia.|A|T|29|40.0|Non-synonymous|Line Propagating
5124257|IGL00901|12|59108029|D->G|0.99|Probably damaging|MGI:2159614|Mia2|melanoma inhibitory activity 2 [Source:MGI Symbol;Acc:MGI:2159614]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
5124258|IGL00901|16|35651315|T->M|1.0|Probably damaging|MGI:107555|Sema5b|sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B [Source:MGI Symbol;Acc:MGI:107555]|Heterozygous||C|T|20|39.5|Non-synonymous|Line Propagating
5124259|IGL00901|2|112886589|S->T|0.2|Benign|MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|A|T|16|39.0|Non-synonymous|Line Propagating
5124260|IGL00901|3|63964012|D->G||Benign|MGI:1332247|Slc33a1|solute carrier family 33 (acetyl-CoA transporter), member 1 [Source:MGI Symbol;Acc:MGI:1332247]|Heterozygous||T|C|15|35.0|Non-synonymous|Line Propagating
5124261|IGL00901|7|79839423|S->P||Benign|MGI:5000466|Anpep|alanyl (membrane) aminopeptidase [Source:MGI Symbol;Acc:MGI:96749]|Heterozygous||A|G|15|38.0|Non-synonymous|Line Propagating
5124263|IGL00901|15|89590270|Disrupted splicing|||MGI:1915958|Rabl2|RAB, member of RAS oncogene family-like 2 [Source:MGI Symbol;Acc:MGI:1915958]|Heterozygous||T|C|151|37.0|Splice|Line Propagating
5124264|IGL00901|10|20619129|Disrupted splicing|||MGI:1352752|Pde7b|phosphodiesterase 7B [Source:MGI Symbol;Acc:MGI:1352752]|Heterozygous||C|T|90|40.0|Splice|Line Propagating
5124265|IGL00901|6|128948692|Disrupted splicing|||MGI:1918059|Clec2g|C-type lectin domain family 2, member g [Source:MGI Symbol;Acc:MGI:1918059]|Heterozygous||A|G|85|40.0|Splice|Line Propagating
5124266|IGL00901|11|62883780|Disrupted splicing|||MGI:1914760|Fam18b|family with sequence similarity 18, member B [Source:MGI Symbol;Acc:MGI:1914760]|Heterozygous||T|A|24|40.0|Splice|Line Propagating
5124267|IGL00901|5|5619162|Disrupted splicing|||MGI:2443778|A330021e22rik|RIKEN cDNA A330021E22 gene [Source:MGI Symbol;Acc:MGI:2443778]|Heterozygous||T|A|23|41.0|Splice|Line Propagating
5124268|IGL00901|6|18268430|Disrupted splicing|||MGI:88388|Cftr|cystic fibrosis transmembrane conductance regulator homolog [Source:MGI Symbol;Acc:MGI:88388]|Heterozygous|Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.|T|C|14|39.0|Splice|Line Propagating
5124812|IGL00902|3|88353085|V->I|0.04|Benign|MGI:2447364|Smg5|Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) [Source:MGI Symbol;Acc:MGI:2447364]|Heterozygous||G|A|118|39.0|Non-synonymous|Line Propagating
5124813|IGL00902|14|20486167|M->R|0.92|Possibly damaging|MGI:1922093|Zmynd17|zinc finger, MYND domain containing 17 [Source:MGI Symbol;Acc:MGI:1922093]|Heterozygous||A|C|115|40.0|Non-synonymous|Line Propagating
5124814|IGL00902|17|45466014|V->A|0.1|Benign|MGI:1918270, MGI:3645365|Spats1,gm9104|predicted gene 9104 [Source:MGI Symbol;Acc:MGI:3645365],spermatogenesis associated, serine-rich 1 [Source:MGI Symbol;Acc:MGI:1918270]|Heterozygous||T|C|115|39.0|Non-synonymous|Line Propagating
5124815|IGL00902|19|12461769|A->D|0.99|Probably damaging|MGI:1333743|Mpeg1|macrophage expressed gene 1 [Source:MGI Symbol;Acc:MGI:1333743]|Heterozygous||C|A|114|39.0|Non-synonymous|Line Propagating
5124816|IGL00902|9|30428732|I->F|0.89|Possibly damaging|MGI:1921581|Snx19|sorting nexin 19 [Source:MGI Symbol;Acc:MGI:1921581]|Heterozygous||A|T|98|40.0|Non-synonymous|Line Propagating
5124817|IGL00902|9|20439548|S->T|0.01|Benign|MGI:99173|Zfp26|zinc finger protein 26 [Source:MGI Symbol;Acc:MGI:99173]|Heterozygous||A|T|95|40.0|Non-synonymous|Line Propagating
5124818|IGL00902|15|31484978|Y->H|1.0|Probably damaging|MGI:2442773|March6|membrane-associated ring finger (C3HC4) 6 [Source:MGI Symbol;Acc:MGI:2442773]|Heterozygous||A|G|82|39.0|Non-synonymous|Line Propagating
5124819|IGL00902|10|40647554|V->A|1.0|Probably damaging|MGI:1925528|Ddo|D-aspartate oxidase [Source:MGI Symbol;Acc:MGI:1925528]|Heterozygous|Homozygous null mice are viable and fertile, but can display impaired male copulation, decreased autogrooming, increased body weight, and increased D-aspartate levels, depending on the mutant allele.|T|C|73|37.0|Non-synonymous|Line Propagating
5124820|IGL00902|3|146610406|D->G|0.75|Possibly damaging|MGI:98907|Uox|urate oxidase [Source:MGI Symbol;Acc:MGI:98907]|Heterozygous|Homozygous null mutants exhibit marked hyperuricemia and urate nephropathy. Most mutants die prior to four weeks of age. Homozygotes for a large paracentric inversion disrupting this same gene exhibit a similar phenotype.|A|G|72|40.0|Non-synonymous|Line Propagating
5124821|IGL00902|2|71849394|V->A|1.0|Probably damaging|MGI:96605|Itga6|integrin alpha 6 [Source:MGI Symbol;Acc:MGI:96605]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth.|T|C|69|39.0|Non-synonymous|Line Propagating
5124822|IGL00902|2|85786117|M->T||Benign|MGI:3030849|Olfr1015|olfactory receptor 1015 [Source:MGI Symbol;Acc:MGI:3030849]|Heterozygous||T|C|69|40.0|Non-synonymous|Line Propagating
5124823|IGL00902|14|84446849|E->G|1.0|Probably damaging|MGI:2684924|Pcdh17|protocadherin 17 [Source:MGI Symbol;Acc:MGI:2684924]|Heterozygous||A|G|67|37.0|Non-synonymous|Line Propagating
5124824|IGL00902|7|29701143|H->L|0.6|Possibly damaging|MGI:1923968|Catsperg2|cation channel, sperm-associated, gamma 2 [Source:MGI Symbol;Acc:MGI:1923968]|Heterozygous||T|A|67|38.0|Non-synonymous|Line Propagating
5124825|IGL00902|14|78495838|S->P||Benign|MGI:2684060|Akap11|A kinase (PRKA) anchor protein 11 [Source:MGI Symbol;Acc:MGI:2684060]|Heterozygous||A|G|66|39.0|Non-synonymous|Line Propagating
5124826|IGL00902|19|3600774|N->S|1.0|Probably damaging|MGI:1278315|Lrp5|low density lipoprotein receptor-related protein 5 [Source:MGI Symbol;Acc:MGI:1278315]|Heterozygous|Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background.|T|C|64|39.0|Non-synonymous|Line Propagating
5124828|IGL00902|17|84447976|M->K|0.94|Possibly damaging|MGI:3039623|Thada|thyroid adenoma associated [Source:MGI Symbol;Acc:MGI:3039623]|Heterozygous||A|T|59|40.0|Non-synonymous|Line Propagating
5124829|IGL00902|10|80256005|Y->Stop||N/A|MGI:1922656|Ndufs7|NADH dehydrogenase (ubiquinone) Fe-S protein 7 [Source:MGI Symbol;Acc:MGI:1922656]|Heterozygous||T|G|56|38.5|Non-synonymous|Line Propagating
5124830|IGL00902|10|88919461|T->A|0.02|Benign|MGI:2384916|Slc5a8|solute carrier family 5 (iodide transporter), member 8 [Source:MGI Symbol;Acc:MGI:2384916]|Heterozygous|Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine.|A|G|53|38.0|Non-synonymous|Line Propagating
5124831|IGL00902|11|43598716|R->C|1.0|Probably damaging|MGI:96565|Fabp6|fatty acid binding protein 6, ileal (gastrotropin) [Source:MGI Symbol;Acc:MGI:96565]|Heterozygous||G|A|51|39.0|Non-synonymous|Line Propagating
5124833|IGL00902|18|74275239|Y->C|0.05|Benign|MGI:1333811|Mbd1|methyl-CpG binding domain protein 1 [Source:MGI Symbol;Acc:MGI:1333811]|Heterozygous|Homozygous null exhibited defects in adult hippocampal neurogenesis and function. Spatial learning was also impaired in mutant mice.|A|G|48|39.0|Non-synonymous|Line Propagating
5124834|IGL00902|11|69821817|I->N|0.96|Probably damaging|MGI:1921538|Spem1|sperm maturation 1 [Source:MGI Symbol;Acc:MGI:1921538]|Heterozygous|Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis.|A|T|46|39.0|Non-synonymous|Line Propagating
5124835|IGL00902|16|11232579|V->I|1.0|Probably damaging|MGI:1316728|Gspt1|G1 to S phase transition 1 [Source:MGI Symbol;Acc:MGI:1316728]|Heterozygous||C|T|41|40.0|Non-synonymous|Line Propagating
5124836|IGL00902|19|29567231|V->A|0.04|Benign|MGI:1924893|C030046e11rik|RIKEN cDNA C030046E11 gene [Source:MGI Symbol;Acc:MGI:1924893]|Heterozygous||T|C|38|39.5|Non-synonymous|Line Propagating
5124838|IGL00902|3|37041345|G->D|1.0|Probably damaging|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||G|A|34|41.0|Non-synonymous|Line Propagating
5124839|IGL00902|17|12700358|C->Y|1.0|Probably damaging|MGI:96435|Igf2r|insulin-like growth factor 2 receptor [Source:MGI Symbol;Acc:MGI:96435]|Heterozygous||C|T|31|39.0|Non-synonymous|Line Propagating
5124840|IGL00902|1|175728825|C->S|0.74|Possibly damaging|MGI:1923070|Wdr64|WD repeat domain 64 [Source:MGI Symbol;Acc:MGI:1923070]|Heterozygous||T|A|30|38.0|Non-synonymous|Line Propagating
5124841|IGL00902|11|5798105|A->S||Benign|MGI:700006|Dbnl|drebrin-like [Source:MGI Symbol;Acc:MGI:700006]|Heterozygous|Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed.|G|T|29|39.0|Non-synonymous|Line Propagating
5124842|IGL00902|7|30567275|S->P|0.91|Possibly damaging|MGI:3655979|Tmem149|transmembrane protein 149 [Source:MGI Symbol;Acc:MGI:3655979]|Heterozygous||T|C|25|38.0|Non-synonymous|Line Propagating
5124843|IGL00902|1|58016099|T->A|0.61|Possibly damaging|MGI:1098767|Sgol2|shugoshin-like 2 (S. pombe) [Source:MGI Symbol;Acc:MGI:1098767]|Heterozygous|Mice homozygous for a null mutation display male and female infertility with abnormalities in meiosis but not in mitosis.|A|G|24|41.0|Non-synonymous|Line Propagating
5124844|IGL00902|1|92942559|I->V||Benign|MGI:1344392|Capn10|calpain 10 [Source:MGI Symbol;Acc:MGI:1344392]|Heterozygous|Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J.|A|G|23|35.0|Non-synonymous|Line Propagating
5124845|IGL00902|10|129093396|I->L||Benign|MGI:3030602|Olfr768|olfactory receptor 768 [Source:MGI Symbol;Acc:MGI:3030602]|Heterozygous||T|A|22|39.0|Non-synonymous|Line Propagating
5124846|IGL00902|15|71964659|G->V|1.0|Probably damaging|MGI:1916950|Col22a1|collagen, type XXII, alpha 1 [Source:MGI Symbol;Acc:MGI:1916950]|Heterozygous||C|A|20|39.0|Non-synonymous|Line Propagating
5124847|IGL00902|7|12715499|S->G|0.16|Benign|MGI:3695438|Vmn2r56|vomeronasal 2, receptor 56 [Source:MGI Symbol;Acc:MGI:3695438]|Heterozygous||T|C|18|38.0|Non-synonymous|Line Propagating
5124848|IGL00902|11|67891419|P->L|0.6|Possibly damaging|MGI:2444541|Usp43|ubiquitin specific peptidase 43 [Source:MGI Symbol;Acc:MGI:2444541]|Heterozygous||G|A|14|38.5|Non-synonymous|Line Propagating
5124849|IGL00902|2|35717112|F->S|1.0|Probably damaging|MGI:1916851|Dab2ip|disabled homolog 2 (Drosophila) interacting protein [Source:MGI Symbol;Acc:MGI:1916851]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses.|T|C|14|39.5|Non-synonymous|Line Propagating
5124850|IGL00902|14|77582404|M->V|0.06|Benign|MGI:2444896|Enox1|ecto-NOX disulfide-thiol exchanger 1 [Source:MGI Symbol;Acc:MGI:2444896]|Heterozygous||A|G|12|41.0|Non-synonymous|Line Propagating
5124851|IGL00902|15|4915222|L->Q|1.0|Probably damaging|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||T|A|10|41.0|Non-synonymous|Line Propagating
5124852|IGL00902|14|30932482|Disrupted splicing|||MGI:96618|Itih1|inter-alpha trypsin inhibitor, heavy chain 1 [Source:MGI Symbol;Acc:MGI:96618]|Heterozygous||G|A|52|37.5|Splice|Line Propagating
5124853|IGL00902|5|143719874|Disrupted splicing|||MGI:1924050|Usp42|ubiquitin specific peptidase 42 [Source:MGI Symbol;Acc:MGI:1924050]|Heterozygous||A|T|30|38.0|Splice|Line Propagating
5124854|IGL00902|9|90188794|Disrupted splicing|||MGI:1347346|Adamts7|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7 [Source:MGI Symbol;Acc:MGI:1347346]|Heterozygous||T|G|30|38.0|Splice|Line Propagating
5126027|IGL00904|2|109292126|D->G|1.0|Probably damaging|MGI:2446977|Kif18a|kinesin family member 18A [Source:MGI Symbol;Acc:MGI:2446977]|Heterozygous||A|G|118|39.0|Non-synonymous|Line Propagating
5126028|IGL00904|1|164194009|V->A|0.06|Benign|MGI:88382|F5|coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]|Heterozygous||T|C|109|39.0|Non-synonymous|Line Propagating
5126029|IGL00904|15|3328120|Y->F|0.03|Benign|MGI:95708|Ghr|growth hormone receptor [Source:MGI Symbol;Acc:MGI:95708]|Heterozygous|Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span.|T|A|93|40.0|Non-synonymous|Line Propagating
5126030|IGL00904|7|85957580|R->H||Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||C|T|82|40.0|Non-synonymous|Line Propagating
5126031|IGL00904|10|53622921|H->Q|0.04|Benign|MGI:1918817|Mcm9|minichromosome maintenance complex component 9 [Source:MGI Symbol;Acc:MGI:1918817]|Heterozygous||A|T|78|38.0|Non-synonymous|Line Propagating
5126032|IGL00904|11|61452784|D->E|1.0|Probably damaging|MGI:106611|Rnf112|ring finger protein 112 [Source:MGI Symbol;Acc:MGI:106611]|Heterozygous||G|T|65|39.0|Non-synonymous|Line Propagating
5126033|IGL00904|17|19526000|C->G|1.0|Probably damaging|MGI:3648026|Vmn2r100|vomeronasal 2, receptor 100 [Source:MGI Symbol;Acc:MGI:3648026]|Heterozygous||T|G|61|39.0|Non-synonymous|Line Propagating
5126034|IGL00904|14|74749688|D->G|0.97|Probably damaging|MGI:95421|Esd|esterase D/formylglutathione hydrolase [Source:MGI Symbol;Acc:MGI:95421]|Heterozygous||A|G|58|40.5|Non-synonymous|Line Propagating
5126035|IGL00904|11|97258306|V->G|0.99|Probably damaging|MGI:1101358|Npepps|aminopeptidase puromycin sensitive [Source:MGI Symbol;Acc:MGI:1101358]|Heterozygous|Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis.|A|C|57|39.0|Non-synonymous|Line Propagating
5126036|IGL00904|5|31172858|S->N|0.98|Probably damaging|MGI:1919002|Gtf3c2|general transcription factor IIIC, polypeptide 2, beta [Source:MGI Symbol;Acc:MGI:1919002]|Heterozygous||C|T|55|39.0|Non-synonymous|Line Propagating
5126037|IGL00904|11|59205673|S->T|0.01|Benign|MGI:1914462|Mrpl55|mitochondrial ribosomal protein L55 [Source:MGI Symbol;Acc:MGI:1914462]|Heterozygous||T|A|54|37.0|Non-synonymous|Line Propagating
5126038|IGL00904|2|91120029|V->A||Benign|MGI:102844|Mybpc3|myosin binding protein C, cardiac [Source:MGI Symbol;Acc:MGI:102844]|Heterozygous|Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis.|T|C|45|35.0|Non-synonymous|Line Propagating
5126039|IGL00904|13|70602289|D->N|1.0|Probably damaging|MGI:2385865|Bc018507|cDNA sequence BC018507 [Source:MGI Symbol;Acc:MGI:2385865]|Heterozygous||C|T|39|39.0|Non-synonymous|Line Propagating
5126040|IGL00904|6|86946153|G->C||Unknown|MGI:1098687|Aak1|AP2 associated kinase 1 [Source:MGI Symbol;Acc:MGI:1098687]|Heterozygous||G|T|36|40.0|Non-synonymous|Line Propagating
5126041|IGL00904|16|11199694|T->I|0.92|Possibly damaging|MGI:1913659|Rsl1d1|ribosomal L1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1913659]|Heterozygous||G|A|34|40.0|Non-synonymous|Line Propagating
5126042|IGL00904|10|80528764|G->R|1.0|Probably damaging|MGI:1914581|Atp8b3|ATPase, class I, type 8B, member 3 [Source:MGI Symbol;Acc:MGI:1914581]|Heterozygous|Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions.|C|T|31|36.0|Non-synonymous|Line Propagating
5126043|IGL00904|2|22941930|R->Q|0.28|Benign|MGI:104913|Abi1|abl-interactor 1 [Source:MGI Symbol;Acc:MGI:104913]|Heterozygous|Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis.|C|T|27|39.0|Non-synonymous|Line Propagating
5126044|IGL00904|4|58097398|N->D|0.01|Benign|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||T|C|24|39.0|Non-synonymous|Line Propagating
5126045|IGL00904|4|117864617|L->P|1.0|Probably damaging|MGI:95760|Slc6a9|solute carrier family 6 (neurotransmitter transporter, glycine), member 9 [Source:MGI Symbol;Acc:MGI:95760]|Heterozygous|Homozygous null mice die shortly after birth exhibiting breathing and movement deficiencies.|T|C|24|39.5|Non-synonymous|Line Propagating
5126046|IGL00904|17|47601871|M->I|0.99|Probably damaging|MGI:1858419|Bysl|bystin-like [Source:MGI Symbol;Acc:MGI:1858419]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality shortly after implantation.|C|T|21|37.0|Non-synonymous|Line Propagating
5126047|IGL00904|17|64283531|T->K|1.0|Probably damaging|MGI:2159342|Pja2|praja 2, RING-H2 motif containing [Source:MGI Symbol;Acc:MGI:2159342]|Heterozygous||G|T|21|39.0|Non-synonymous|Line Propagating
5126048|IGL00904|18|84611665|S->P|0.31|Benign|MGI:2451097|Cndp1|carnosine dipeptidase 1 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:2451097]|Heterozygous||A|G|20|38.5|Non-synonymous|Line Propagating
5126049|IGL00904|18|63796231|I->T|0.96|Probably damaging|MGI:1860197|Wdr7|WD repeat domain 7 [Source:MGI Symbol;Acc:MGI:1860197]|Heterozygous||T|C|19|41.0|Non-synonymous|Line Propagating
5126050|IGL00904|5|112355128|R->Stop||N/A|MGI:2177742, MGI:3648511|Hps4,gm6583|predicted gene 6583 [Source:MGI Symbol;Acc:MGI:3648511],Hermansky-Pudlak syndrome 4 homolog (human) [Source:MGI Symbol;Acc:MGI:2177742]|Heterozygous|Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis.,NO_PHENOTYPE|G|A|18|36.5|Non-synonymous|Line Propagating
5126051|IGL00904|7|101271622|D->G|0.02|Benign|MGI:2448475|Fchsd2|FCH and double SH3 domains 2 [Source:MGI Symbol;Acc:MGI:2448475]|Heterozygous||A|G|17|38.0|Non-synonymous|Line Propagating
5126052|IGL00904|17|7756363|M->L|0.04|Benign|MGI:1915905|Fndc1|fibronectin type III domain containing 1 [Source:MGI Symbol;Acc:MGI:1915905]|Heterozygous||T|A|14|39.5|Non-synonymous|Line Propagating
5126053|IGL00904|4|98065386|P->S|0.97|Probably damaging|MGI:108056|Nfia|nuclear factor I/A [Source:MGI Symbol;Acc:MGI:108056]|Heterozygous|Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect.|C|T|12|37.0|Non-synonymous|Line Propagating
5126054|IGL00904|7|79812653|D->G||Benign|MGI:1096325|Mesp2|mesoderm posterior 2 [Source:MGI Symbol;Acc:MGI:1096325]|Heterozygous|Homozygotes for a targeted null mutation exhibit absence of segmented somites, fused vertebral columns and dorsal root ganglia, and impaired sclerotomal polarity. Mutants die shortly after birth.|A|G|11|37.0|Non-synonymous|Line Propagating
5126055|IGL00904|10|78847763|S->T|0.1|Benign|MGI:3031190|Olfr1356|olfactory receptor 1356 [Source:MGI Symbol;Acc:MGI:3031190]|Heterozygous||A|T|10|41.0|Non-synonymous|Line Propagating
5126057|IGL00904|16|75909120|Disrupted splicing|||MGI:1914992|Samsn1|SAM domain, SH3 domain and nuclear localization signals, 1 [Source:MGI Symbol;Acc:MGI:1914992]|Heterozygous|Mice homozygous for a knock-out allele exhibit enhanced adaptive immunity.|A|T|56|39.0|Splice|Line Propagating
5126058|IGL00904|17|71099949|Disrupted splicing|||MGI:1341430|Myom1|myomesin 1 [Source:MGI Symbol;Acc:MGI:1341430]|Heterozygous||T|C|33|41.0|Splice|Line Propagating
5126059|IGL00904|1|191596164|Disrupted splicing|||MGI:1924315|Ints7|integrator complex subunit 7 [Source:MGI Symbol;Acc:MGI:1924315]|Heterozygous||T|A|24|40.0|Splice|Line Propagating
5126060|IGL00904|17|34575561|Disrupted splicing|||MGI:107471|Notch4|Notch gene homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:107471]|Heterozygous|Homozygotes develop normally and viable with normal fertility. Animals heterozygous for Notch1 deletion and lacking Notch4 are viable but exhibit postnatal growth retardation (80% of control weight at 2-3 weeks).|T|C|18|35.0|Splice|Line Propagating
5126634|IGL00905|11|59772168|V->A|0.05|Benign|MGI:1349438|Mprip|myosin phosphatase Rho interacting protein [Source:MGI Symbol;Acc:MGI:1349438]|Heterozygous||T|C|127|37.0|Non-synonymous|Line Propagating
5126635|IGL00905|4|143795274|T->A|1.0|Probably damaging|MGI:3650478|Gm13023|predicted gene 13023 [Source:MGI Symbol;Acc:MGI:3650478]|Heterozygous||A|G|113|39.0|Non-synonymous|Line Propagating
5126637|IGL00905|7|101300166|E->G|0.93|Possibly damaging|MGI:1920933|Atg16l2|autophagy related 16 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1920933]|Heterozygous||T|C|91|40.0|Non-synonymous|Line Propagating
5126638|IGL00905|6|57002804|N->K|1.0|Probably damaging|MGI:2159456|Vmn1r6|vomeronasal 1 receptor 6 [Source:MGI Symbol;Acc:MGI:2159456]|Heterozygous||T|A|90|41.0|Non-synonymous|Line Propagating
5126639|IGL00905|9|39145030|F->C|0.96|Probably damaging|MGI:109308|Olfr27|olfactory receptor 27 [Source:MGI Symbol;Acc:MGI:109308]|Heterozygous||T|G|77|40.0|Non-synonymous|Line Propagating
5126640|IGL00905|6|124815613|P->S|1.0|Probably damaging|MGI:1347343|Usp5|ubiquitin specific peptidase 5 (isopeptidase T) [Source:MGI Symbol;Acc:MGI:1347343]|Heterozygous||G|A|62|40.0|Non-synonymous|Line Propagating
5126641|IGL00905|8|13416068|E->G|0.09|Benign|MGI:1345146|Grk1|G protein-coupled receptor kinase 1 [Source:MGI Symbol;Acc:MGI:1345146]|Heterozygous|Analysis of homozygous null mice revealed abnormal photoresponses and light-induced apoptosis in rods. Mutant mice may serve as models of Oguchi disease and retinal degeneration.|A|G|56|39.0|Non-synonymous|Line Propagating
5126643|IGL00905|2|87071219|I->T||Benign|MGI:3030941|Olfr1107|olfactory receptor 1107 [Source:MGI Symbol;Acc:MGI:3030941]|Heterozygous||A|G|46|41.0|Non-synonymous|Line Propagating
5126644|IGL00905|1|159852182|R->Q|0.16|Benign|MGI:99516|Tnr|tenascin R [Source:MGI Symbol;Acc:MGI:99516]|Heterozygous|In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.|G|A|44|41.0|Non-synonymous|Line Propagating
5126645|IGL00905|4|133370548|M->K||Benign|MGI:102462|Slc9a1|solute carrier family 9 (sodium/hydrogen exchanger), member 1 [Source:MGI Symbol;Acc:MGI:102462]|Heterozygous|Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.|T|A|44|37.0|Non-synonymous|Line Propagating
5126646|IGL00905|2|158213412|T->A|0.99|Probably damaging|MGI:3606579|D630003m21rik|RIKEN cDNA D630003M21 gene [Source:MGI Symbol;Acc:MGI:3606579]|Heterozygous||T|C|43|39.0|Non-synonymous|Line Propagating
5126647|IGL00905|9|119536501|W->L|||MGI:98251|Scn5a|sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]|Heterozygous|Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.|C|A|40|37.0|Non-synonymous|Line Propagating
5126648|IGL00905|12|84357685|V->I|0.01|Benign|MGI:2443027|Fam161b|family with sequence similarity 161, member B [Source:MGI Symbol;Acc:MGI:2443027]|Heterozygous||C|T|37|37.0|Non-synonymous|Line Propagating
5126649|IGL00905|14|59228305|S->G|0.05|Benign|MGI:1918580|Rcbtb1|regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 [Source:MGI Symbol;Acc:MGI:1918580]|Heterozygous||A|G|33|40.0|Non-synonymous|Line Propagating
5126650|IGL00905|4|57270050|D->E|1.0|Probably damaging|MGI:105307|Ptpn3|protein tyrosine phosphatase, non-receptor type 3 [Source:MGI Symbol;Acc:MGI:105307]|Heterozygous|Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content.|A|T|22|38.5|Non-synonymous|Line Propagating
5126651|IGL00905|15|76064990|F->S|1.0|Probably damaging|MGI:2145950|Scrib|scribbled homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2145950]|Heterozygous|Mice homozygous for a spontaneous allele exhibit craniorachischisis, gastroschisis, and abnormal organ of Corti. Mice homozygous for another spontaneous allele exhibit prenatal lethality, abnormal brain morphology, and abnormal eye morphology.|A|G|21|38.0|Non-synonymous|Line Propagating
5126652|IGL00905|4|124683793|P->Q|1.0|Probably damaging|MGI:1914455|Utp11l|UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) [Source:MGI Symbol;Acc:MGI:1914455]|Heterozygous||G|T|18|37.5|Non-synonymous|Line Propagating
5126653|IGL00905|12|108855388|T->K||Benign|MGI:2144766|Slc25a47|solute carrier family 25, member 47 [Source:MGI Symbol;Acc:MGI:2144766]|Heterozygous||C|A|15|37.0|Non-synonymous|Line Propagating
5126654|IGL00905|17|26936594|R->W|0.98|Probably damaging|MGI:98647|Phf1|PHD finger protein 1 [Source:MGI Symbol;Acc:MGI:98647]|Heterozygous||A|T|14|38.5|Non-synonymous|Line Propagating
5126655|IGL00905|8|70906029|E->G||Unknown|MGI:2443304|Mtap1s|microtubule-associated protein 1S [Source:MGI Symbol;Acc:MGI:2443304]|Heterozygous|Mice homozygous for a knock-out allele exhibit defective biogenesis and degradation of autophagosomes.|A|G|14|37.0|Non-synonymous|Line Propagating
5126658|IGL00905|10|26313846|Disrupted splicing|||MGI:2143628|L3mbtl3|l(3)mbt-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2143628]|Heterozygous|Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia.|C|T|33|40.0|Splice|Line Propagating
5126659|IGL00905|8|69300770|Disrupted splicing|||MGI:2444324|D130040h23rik|RIKEN cDNA D130040H23 gene [Source:MGI Symbol;Acc:MGI:2444324]|Heterozygous||A|T|21|41.0|Splice|Line Propagating
5126660|IGL00905|8|111918440|Disrupted splicing|||MGI:2685024|Tmem231|transmembrane protein 231 [Source:MGI Symbol;Acc:MGI:2685024]|Heterozygous||A|T|19|40.0|Splice|Line Propagating
5126661|IGL00905|8|106742472|Disrupted splicing|||MGI:2142786|Tmco7|transmembrane and coiled-coil domains 7 [Source:MGI Symbol;Acc:MGI:2142786]|Heterozygous||G|T|11|37.0|Splice|Line Propagating
5127817|IGL00907|9|19121232|D->E|0.8|Possibly damaging|MGI:3030670|Olfr836|olfactory receptor 836 [Source:MGI Symbol;Acc:MGI:3030670]|Heterozygous||T|A|114|40.0|Non-synonymous|Line Propagating
5127818|IGL00907|2|66327797|S->A|0.99|Probably damaging|MGI:98246|Scn1a|sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethality, seizures, and abnormal behavior. Mice heterozygous for a knock-out allele exhibit premature death and seizures associated with abnormal nervous system electrophysiology.|A|C|89|39.0|Non-synonymous|Line Propagating
5127819|IGL00907|7|107990890|D->V|0.58|Possibly damaging|MGI:3030311|Olfr477|olfactory receptor 477 [Source:MGI Symbol;Acc:MGI:3030311]|Heterozygous||A|T|80|38.0|Non-synonymous|Line Propagating
5127821|IGL00907|X|136525162|C->Y|1.0|Probably damaging|MGI:2652397|Kir3dl1|killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 [Source:MGI Symbol;Acc:MGI:2652397]|Heterozygous||G|A|65|39.0|Non-synonymous|Line Propagating
5127822|IGL00907|4|42938667|T->I|0.23|Benign|MGI:2140712|N28178|expressed sequence N28178 [Source:MGI Symbol;Acc:MGI:2140712]|Heterozygous||C|T|53|39.0|Non-synonymous|Line Propagating
5127823|IGL00907|2|88683294|V->A||Benign|MGI:3031029|Olfr1195|olfactory receptor 1195 [Source:MGI Symbol;Acc:MGI:3031029]|Heterozygous||A|G|37|39.0|Non-synonymous|Line Propagating
5127824|IGL00907|3|107750346|N->S|0.87|Possibly damaging|MGI:1339753|Csf1|colony stimulating factor 1 (macrophage) [Source:MGI Symbol;Acc:MGI:1339753]|Heterozygous|Homozygotes for a spontaneous mutation exhibit lack of incisors, a broad domed skull, short thick limb bones with reduced marrow cavities, impaired hearing and vision, and reduced fertility in females.|T|C|37|39.0|Non-synonymous|Line Propagating
5127825|IGL00907|6|38818273|S->P|1.0|Probably damaging|MGI:1314872|Hipk2|homeodomain interacting protein kinase 2 [Source:MGI Symbol;Acc:MGI:1314872]|Heterozygous|Homozygous null mice display decreased apoptosis and increased neuron numbers in the trigeminal ganglion.|A|G|37|39.0|Non-synonymous|Line Propagating
5127827|IGL00907|10|4454051|F->L|0.01|Benign|MGI:1920669|1700052n19rik|RIKEN cDNA 1700052N19 gene [Source:MGI Symbol;Acc:MGI:1920669]|Heterozygous||A|G|32|38.5|Non-synonymous|Line Propagating
5127828|IGL00907|2|57109217|I->F|0.95|Probably damaging|MGI:1352456|Nr4a2|nuclear receptor subfamily 4, group A, member 2 [Source:MGI Symbol;Acc:MGI:1352456]|Heterozygous|Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age.|T|A|27|40.0|Non-synonymous|Line Propagating
5127829|IGL00907|1|166204849|Y->H|0.99|Probably damaging|MGI:2138453|Mael|maelstrom homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2138453]|Heterozygous|Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis.|A|G|26|40.0|Non-synonymous|Line Propagating
5127830|IGL00907|12|9034953|Y->N|0.99|Probably damaging|MGI:1922766|Ttc32|tetratricopeptide repeat domain 32 [Source:MGI Symbol;Acc:MGI:1922766]|Heterozygous||T|A|26|40.0|Non-synonymous|Line Propagating
5127831|IGL00907|4|8840435|I->T|0.82|Possibly damaging|MGI:2444748|Chd7|chromodomain helicase DNA binding protein 7 [Source:MGI Symbol;Acc:MGI:2444748]|Heterozygous|Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink.|T|C|26|40.5|Non-synonymous|Line Propagating
5127832|IGL00907|12|80947834|V->A|1.0|Probably damaging|MGI:98287|Srsf5|serine/arginine-rich splicing factor 5 [Source:MGI Symbol;Acc:MGI:98287]|Heterozygous||T|C|25|40.0|Non-synonymous|Line Propagating
5127833|IGL00907|18|64561705|D->G|0.08|Benign|MGI:1859665|Atp8b1|ATPase, class I, type 8B, member 1 [Source:MGI Symbol;Acc:MGI:1859665]|Heterozygous|Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet.|T|C|25|40.0|Non-synonymous|Line Propagating
5127834|IGL00907|9|53563290|V->A|0.15|Benign|MGI:107605|Npat|nuclear protein in the AT region [Source:MGI Symbol;Acc:MGI:107605]|Heterozygous||T|C|24|39.0|Non-synonymous|Line Propagating
5127835|IGL00907|9|85690331|S->P|0.88|Possibly damaging|MGI:1918677|Ibtk|inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:MGI Symbol;Acc:MGI:1918677]|Heterozygous||A|G|23|38.0|Non-synonymous|Line Propagating
5127836|IGL00907|12|111540555|I->N|0.99|Probably damaging|MGI:95309|Eif5|eukaryotic translation initiation factor 5 [Source:MGI Symbol;Acc:MGI:95309]|Heterozygous||T|A|21|37.0|Non-synonymous|Line Propagating
5127838|IGL00907|1|153144651|V->A|0.05|Benign|MGI:99913|Lamc2|laminin, gamma 2 [Source:MGI Symbol;Acc:MGI:99913]|Heterozygous|Mice homozygous for disruptions in this gene display abnormalities in cell:cell adhesion involving epithelial cells.|A|G|20|37.0|Non-synonymous|Line Propagating
5127839|IGL00907|10|75640931|N->S||Benign|MGI:1918983|Susd2|sushi domain containing 2 [Source:MGI Symbol;Acc:MGI:1918983]|Heterozygous||T|C|19|40.0|Non-synonymous|Line Propagating
5127840|IGL00907|17|26213526|R->W|1.0|Probably damaging|MGI:2146854|Itfg3|integrin alpha FG-GAP repeat containing 3 [Source:MGI Symbol;Acc:MGI:2146854]|Heterozygous||G|A|18|36.0|Non-synonymous|Line Propagating
5127841|IGL00907|19|47107564|V->A|0.15|Benign|MGI:1341788|Pdcd11|programmed cell death 11 [Source:MGI Symbol;Acc:MGI:1341788]|Heterozygous||T|C|16|37.0|Non-synonymous|Line Propagating
5127842|IGL00907|2|20766478|G->D|0.21|Benign|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||G|A|15|40.0|Non-synonymous|Line Propagating
5127843|IGL00907|8|117734694|I->L||Benign|MGI:1096386|Hsd17b2|hydroxysteroid (17-beta) dehydrogenase 2 [Source:MGI Symbol;Acc:MGI:1096386]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic lethality starting at E11.5 and placenta defects. The few mutants that survive to birth exhibit enlarged brain ventricles, cerebral cortex abnormalities and a single kidney.|A|T|15|39.0|Non-synonymous|Line Propagating
5127846|IGL00907|4|83864249|H->Q|0.95|Possibly damaging|MGI:1922152|4930473a06rik|RIKEN cDNA 4930473A06 gene [Source:MGI Symbol;Acc:MGI:1922152]|Heterozygous||T|A|11|40.0|Non-synonymous|Line Propagating
5127849|IGL00907|12|31332330|Disrupted splicing|||MGI:107450|Dld|dihydrolipoamide dehydrogenase [Source:MGI Symbol;Acc:MGI:107450]|Heterozygous|Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.|A|G|42|36.5|Splice|Line Propagating
5127850|IGL00907|7|28753423|Disrupted splicing|||MGI:1919234|Sars2|seryl-aminoacyl-tRNA synthetase 2 [Source:MGI Symbol;Acc:MGI:1919234]|Heterozygous||G|T|25|36.0|Splice|Line Propagating
5127851|IGL00907|X|108784246|Disrupted splicing|||MGI:3029414|Brwd3|bromodomain and WD repeat domain containing 3 [Source:MGI Symbol;Acc:MGI:3029414]|Heterozygous||A|G|20|40.0|Splice|Line Propagating
5127852|IGL00907|3|101427448|Disrupted splicing|||MGI:1926158|Igsf3|immunoglobulin superfamily, member 3 [Source:MGI Symbol;Acc:MGI:1926158]|Heterozygous||T|C|13|39.0|Splice|Line Propagating
5129607|IGL00910|2|91576050|T->A|0.99|Probably damaging|MGI:1923036|Ckap5|cytoskeleton associated protein 5 [Source:MGI Symbol;Acc:MGI:1923036]|Heterozygous||A|G|120|40.0|Non-synonymous|Line Propagating
5129608|IGL00910|2|153990466|M->L||Benign|MGI:3647736|Gm5840|predicted gene 5840 [Source:MGI Symbol;Acc:MGI:3647736]|Heterozygous||A|T|120|40.0|Non-synonymous|Line Propagating
5129609|IGL00910|8|92996100|Y->C|1.0|Probably damaging|MGI:1270850|Slc6a2|solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 [Source:MGI Symbol;Acc:MGI:1270850]|Heterozygous|Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants.|A|G|96|39.0|Non-synonymous|Line Propagating
5129610|IGL00910|5|125508708|M->K||Benign|MGI:1926144|Aacs|acetoacetyl-CoA synthetase [Source:MGI Symbol;Acc:MGI:1926144]|Heterozygous||T|A|92|39.0|Non-synonymous|Line Propagating
5129611|IGL00910|12|14150526|S->G||Benign|MGI:2145011|Fam84a|family with sequence similarity 84, member A [Source:MGI Symbol;Acc:MGI:2145011]|Heterozygous||T|C|84|35.0|Non-synonymous|Line Propagating
5129612|IGL00910|11|100599191|F->L|0.69|Possibly damaging|MGI:1928373|Dnajc7|DnaJ (Hsp40) homolog, subfamily C, member 7 [Source:MGI Symbol;Acc:MGI:1928373]|Heterozygous||A|T|74|40.0|Non-synonymous|Line Propagating
5129613|IGL00910|15|84955819|L->P|1.0|Probably damaging|MGI:2444899|5031439g07rik|RIKEN cDNA 5031439G07 gene [Source:MGI Symbol;Acc:MGI:2444899]|Heterozygous||A|G|67|38.0|Non-synonymous|Line Propagating
5129614|IGL00910|13|8672433|V->A|0.92|Possibly damaging|MGI:2151118|Adarb2|adenosine deaminase, RNA-specific, B2 [Source:MGI Symbol;Acc:MGI:2151118]|Heterozygous||T|C|54|39.0|Non-synonymous|Line Propagating
5129615|IGL00910|7|101277626|I->T|0.01|Benign|MGI:2448475|Fchsd2|FCH and double SH3 domains 2 [Source:MGI Symbol;Acc:MGI:2448475]|Heterozygous||T|C|39|39.0|Non-synonymous|Line Propagating
5129616|IGL00910|8|109559034|V->A|0.18|Benign|MGI:1927617|Dhx38|DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Source:MGI Symbol;Acc:MGI:1927617]|Heterozygous||A|G|39|38.0|Non-synonymous|Line Propagating
5129617|IGL00910|1|131136336|I->T||Benign|MGI:1330300|Dyrk3|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 [Source:MGI Symbol;Acc:MGI:1330300]|Heterozygous|Mice homozygous for a null allele exhibit increased erythropoiesis in response to chemically-induced anemia.|A|G|38|37.5|Non-synonymous|Line Propagating
5129618|IGL00910|9|89729026|S->T|0.96|Probably damaging|MGI:2685617|Ankrd34c|ankyrin repeat domain 34C [Source:MGI Symbol;Acc:MGI:2685617]|Heterozygous||A|T|19|35.0|Non-synonymous|Line Propagating
5129619|IGL00910|12|70347113|E->G|0.22|Benign|MGI:2137354|Trim9|tripartite motif-containing 9 [Source:MGI Symbol;Acc:MGI:2137354]|Heterozygous||T|C|18|38.0|Non-synonymous|Line Propagating
5129620|IGL00910|7|80390996|V->A||Benign|MGI:97513|Furin|furin (paired basic amino acid cleaving enzyme) [Source:MGI Symbol;Acc:MGI:97513]|Heterozygous|Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects.|A|G|14|35.0|Non-synonymous|Line Propagating
5129621|IGL00910|8|27085983|A->E|0.96|Probably damaging|MGI:1925810|Gpr124|G protein-coupled receptor 124 [Source:MGI Symbol;Acc:MGI:1925810]|Heterozygous|Mice homozygous for null mutations display fetal or perinatal lethality with CNS hemorrhage and angiogenic arrest in the CNS.|C|A|11|35.0|Non-synonymous|Line Propagating
5129622|IGL00910|13|13189476|Disrupted splicing|||MGI:1858413|Prl2c5|prolactin family 2, subfamily c, member 5 [Source:MGI Symbol;Acc:MGI:1858413]|Heterozygous||G|A|119|40.0|Splice|Line Propagating
5129623|IGL00910|3|102110231|Disrupted splicing|||MGI:1309469|Casq2|calsequestrin 2 [Source:MGI Symbol;Acc:MGI:1309469]|Heterozygous|Mutations in this gene cause impaired intracellular calcium regulation in cardiac myocytes and lead to an arrhythmogenic syndrome called catecholaminergic polymorphic ventricular tachycardia.|T|C|48|40.0|Splice|Line Propagating
5129624|IGL00910|10|127028359|Disrupted splicing|||MGI:1913649|Tsfm|Ts translation elongation factor, mitochondrial [Source:MGI Symbol;Acc:MGI:1913649]|Heterozygous||G|T|35|39.0|Splice|Line Propagating
5129625|IGL00910|12|103651965|Disrupted splicing|||MGI:88278|Serpina6|serine (or cysteine) peptidase inhibitor, clade A, member 6 [Source:MGI Symbol;Acc:MGI:88278]|Heterozygous|Null homozygotes exhibit reduced total plasma corticosterone, increased susceptibility to bacterial infection, attenuation of the stress-induced surge in free corticosterone, and enhanced behavioral response to intense or uncontrollable stress. They exhibit no locomotor sensitization to cocaine.|G|T|31|40.0|Splice|Line Propagating
5129626|IGL00910|2|112728934|Disrupted splicing|||MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|A|T|30|38.5|Splice|Line Propagating
5129627|IGL00910|1|46066729|Disrupted splicing|||MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||A|T|27|37.0|Splice|Line Propagating
5130187|IGL00911|6|97120000|V->E|1.0|Probably damaging|MGI:2141669|A130022j15rik|RIKEN cDNA A130022J15 gene [Source:MGI Symbol;Acc:MGI:2141669]|Heterozygous||A|T|140|40.0|Non-synonymous|Line Propagating
5130188|IGL00911|18|62530800|I->F|0.81|Possibly damaging|MGI:2444639|Fbxo38|F-box protein 38 [Source:MGI Symbol;Acc:MGI:2444639]|Heterozygous||T|A|127|40.0|Non-synonymous|Line Propagating
5130189|IGL00911|12|90204592|L->P|1.0|Probably damaging|MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|T|C|109|40.0|Non-synonymous|Line Propagating
5130191|IGL00911|4|4134347|Y->C|1.0|Probably damaging|MGI:104629|Penk|preproenkephalin [Source:MGI Symbol;Acc:MGI:104629]|Heterozygous|Mice homozygous for one knock-out allele retain physical dependence but do not develop analgesic tolerance to morphine. Ovariectomized females homozygous for another knock-out allele exhibit exaggerated responses in fear and anxiety paradigms but retain normal sucrose intake and lordosis behavior.|T|C|81|39.0|Non-synonymous|Line Propagating
5130192|IGL00911|8|92890710|Y->H|1.0|Probably damaging|MGI:3606214|Lpcat2|lysophosphatidylcholine acyltransferase 2 [Source:MGI Symbol;Acc:MGI:3606214]|Heterozygous||T|C|78|40.0|Non-synonymous|Line Propagating
5130193|IGL00911|5|3865689|N->T|0.01|Benign|MGI:3045299|4932412h11rik|RIKEN cDNA 4932412H11 gene [Source:MGI Symbol;Acc:MGI:3045299]|Heterozygous||A|C|76|38.0|Non-synonymous|Line Propagating
5130194|IGL00911|10|86969753|C->F|1.0|Probably damaging|MGI:2178743|Stab2|stabilin 2 [Source:MGI Symbol;Acc:MGI:2178743]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|C|A|67|39.0|Non-synonymous|Line Propagating
5130195|IGL00911|4|139660291|P->T|0.7|Possibly damaging|MGI:1933546|Tas1r2|taste receptor, type 1, member 2 [Source:MGI Symbol;Acc:MGI:1933546]|Heterozygous|Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired.|C|A|61|37.0|Non-synonymous|Line Propagating
5130196|IGL00911|7|106677833|Y->N|1.0|Probably damaging|MGI:3030527|Olfr693|olfactory receptor 693 [Source:MGI Symbol;Acc:MGI:3030527]|Heterozygous||A|T|53|39.0|Non-synonymous|Line Propagating
5130197|IGL00911|19|45553601|T->K|1.0|Probably damaging|MGI:1889000|Poll|polymerase (DNA directed), lambda [Source:MGI Symbol;Acc:MGI:1889000]|Heterozygous|Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement.|G|T|47|35.0|Non-synonymous|Line Propagating
5130198|IGL00911|19|30238394|D->E||Benign|MGI:96924|Mbl2|mannose-binding lectin (protein C) 2 [Source:MGI Symbol;Acc:MGI:96924]|Heterozygous||T|A|42|39.0|Non-synonymous|Line Propagating
5130199|IGL00911|2|164042423|T->K|1.0|Probably damaging|MGI:1922908|Pabpc1l|poly(A) binding protein, cytoplasmic 1-like [Source:MGI Symbol;Acc:MGI:1922908]|Heterozygous||C|A|41|35.0|Non-synonymous|Line Propagating
5130201|IGL00911|11|78231181|E->G|0.96|Probably damaging|MGI:107726|Supt6h|suppressor of Ty 6 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:107726]|Heterozygous||T|C|36|40.0|Non-synonymous|Line Propagating
5130202|IGL00911|5|90525591|V->A|0.12|Benign|MGI:2429409|Afm|afamin [Source:MGI Symbol;Acc:MGI:2429409]|Heterozygous||T|C|36|37.0|Non-synonymous|Line Propagating
5130203|IGL00911|4|148041302|S->A|0.19|Benign|MGI:106639|Mthfr|5,10-methylenetetrahydrofolate reductase [Source:MGI Symbol;Acc:MGI:106639]|Heterozygous|Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.|T|G|33|39.0|Non-synonymous|Line Propagating
5130204|IGL00911|4|131989784|D->G|0.66|Possibly damaging|MGI:95401|Epb4.1|erythrocyte protein band 4.1 [Source:MGI Symbol;Acc:MGI:95401]|Heterozygous|Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin.|T|C|32|39.0|Non-synonymous|Line Propagating
5130205|IGL00911|5|66451512|T->M|1.0|Probably damaging|MGI:108405|Apbb2|amyloid beta (A4) precursor protein-binding, family B, member 2 [Source:MGI Symbol;Acc:MGI:108405]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology.|G|A|32|39.0|Non-synonymous|Line Propagating
5130206|IGL00911|8|117586515|D->N|0.17|Benign|MGI:97616|Plcg2|phospholipase C, gamma 2 [Source:MGI Symbol;Acc:MGI:97616]|Heterozygous|Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.|G|A|32|37.0|Non-synonymous|Line Propagating
5130207|IGL00911|8|128476207|S->T||Benign|MGI:106206|Nrp1|neuropilin 1 [Source:MGI Symbol;Acc:MGI:106206]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality, abnormal vascular development, and abnormal trigeminal and spinal nerve morphology.|T|A|30|39.0|Non-synonymous|Line Propagating
5130208|IGL00911|6|83080625|G->S|0.94|Possibly damaging|MGI:1917087|Pcgf1|polycomb group ring finger 1 [Source:MGI Symbol;Acc:MGI:1917087]|Heterozygous||G|A|29|40.0|Non-synonymous|Line Propagating
5130209|IGL00911|11|36008733|Q->Stop||N/A|MGI:1345184|Odz2|odd Oz/ten-m homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1345184]|Heterozygous||G|A|28|40.0|Non-synonymous|Line Propagating
5130210|IGL00911|3|53572462|S->G|1.0|Probably damaging|MGI:2444465|Frem2|Fras1 related extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:2444465]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.|T|C|26|39.0|Non-synonymous|Line Propagating
5130211|IGL00911|8|91051692|P->L|1.0|Probably damaging|MGI:1924001|Chd9|chromodomain helicase DNA binding protein 9 [Source:MGI Symbol;Acc:MGI:1924001]|Heterozygous||C|T|25|40.0|Non-synonymous|Line Propagating
5130212|IGL00911|1|20117747|T->S||Benign|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|T|A|24|39.0|Non-synonymous|Line Propagating
5130213|IGL00911|1|21384354|K->Stop||N/A|MGI:2138477|Khdc1b|KH domain containing 1B [Source:MGI Symbol;Acc:MGI:2138477]|Heterozygous||A|T|23|40.0|Non-synonymous|Line Propagating
5130214|IGL00911|9|106236472|I->F|0.04|Benign|MGI:87989|Alas1|aminolevulinic acid synthase 1 [Source:MGI Symbol;Acc:MGI:87989]|Heterozygous|Mice homozygous for a reporter allele exhibit embryonic lethality.|T|A|23|35.0|Non-synonymous|Line Propagating
5130215|IGL00911|15|99233001|G->Stop||N/A|MGI:1341723|Kcnh3|potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:MGI Symbol;Acc:MGI:1341723]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.|G|T|21|40.0|Non-synonymous|Line Propagating
5130216|IGL00911|12|113188231|A->V|0.84|Possibly damaging|MGI:1916445|Tmem121|transmembrane protein 121 [Source:MGI Symbol;Acc:MGI:1916445]|Heterozygous||C|T|20|35.0|Non-synonymous|Line Propagating
5130217|IGL00911|7|27121929|V->A|1.0|Probably damaging|MGI:88608|Cyp2f2|cytochrome P450, family 2, subfamily f, polypeptide 2 [Source:MGI Symbol;Acc:MGI:88608]|Heterozygous||T|C|20|39.0|Non-synonymous|Line Propagating
5130219|IGL00911|4|149643191|Disrupted splicing|||MGI:1929895|Clstn1|calsyntenin 1 [Source:MGI Symbol;Acc:MGI:1929895]|Heterozygous||T|G|59|39.0|Splice|Line Propagating
5130220|IGL00911|13|101757661|Disrupted splicing|||MGI:97583|Pik3r1|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha) [Source:MGI Symbol;Acc:MGI:97583]|Heterozygous|Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient.|T|C|44|38.5|Splice|Line Propagating
5130221|IGL00911|4|112255909|Disrupted splicing|||MGI:3045331|Skint3|selection and upkeep of intraepithelial T cells 3 [Source:MGI Symbol;Acc:MGI:3045331]|Heterozygous||T|A|35|40.0|Splice|Line Propagating
5130222|IGL00911|13|77951975|Disrupted splicing|||MGI:1915925|Fam172a|family with sequence similarity 172, member A [Source:MGI Symbol;Acc:MGI:1915925]|Heterozygous||T|A|33|40.0|Splice|Line Propagating
5130223|IGL00911|2|158534716|Disrupted splicing|||MGI:3649852|Arhgap40|Rho GTPase activating protein 40 [Source:MGI Symbol;Acc:MGI:3649852]|Heterozygous||A|G|27|39.0|Splice|Line Propagating
5130224|IGL00911|2|91767682|Disrupted splicing|||MGI:2443564|Ambra1|autophagy/beclin 1 regulator 1 [Source:MGI Symbol;Acc:MGI:2443564]|Heterozygous|Most mice homozygous for a gene trap mutation die at E10-E14.5 with severe neural tube defects manifest as midbrain/hindbrain exencephaly and/or spina bifida and associated with impaired autophagy, accumulation of ubiquitinated proteins, abnormal cell proliferation and excessive apoptosis.|T|A|24|40.0|Splice|Line Propagating
5130225|IGL00911|14|31304434|Disrupted splicing|||MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|C|T|12|38.0|Splice|Line Propagating
5130804|IGL00912|17|19531392|T->A|0.67|Possibly damaging|MGI:3648026|Vmn2r100|vomeronasal 2, receptor 100 [Source:MGI Symbol;Acc:MGI:3648026]|Heterozygous||A|G|157|39.0|Non-synonymous|Line Propagating
5130806|IGL00912|15|9310612|V->M|1.0|Probably damaging|MGI:2146055|Ugt3a1|UDP glycosyltransferases 3 family, polypeptide A1 [Source:MGI Symbol;Acc:MGI:2146055]|Heterozygous||G|A|44|40.0|Non-synonymous|Line Propagating
5130807|IGL00912|11|116023444|I->N|1.0|Probably damaging|MGI:1101768|H3f3b|H3 histone, family 3B [Source:MGI Symbol;Acc:MGI:1101768]|Heterozygous||A|T|28|38.5|Non-synonymous|Line Propagating
5130808|IGL00912|2|120403936|D->G|0.36|Benign|MGI:2441844|Tmem87a|transmembrane protein 87A [Source:MGI Symbol;Acc:MGI:2441844]|Heterozygous||T|C|28|36.0|Non-synonymous|Line Propagating
5130809|IGL00912|2|137115573|T->M|1.0|Probably damaging|MGI:1095416|Jag1|jagged 1 [Source:MGI Symbol;Acc:MGI:1095416]|Heterozygous|Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements.|G|A|24|37.0|Non-synonymous|Line Propagating
5130810|IGL00912|10|94737866|R->Stop||N/A|MGI:1924298|Ccdc41|coiled-coil domain containing 41 [Source:MGI Symbol;Acc:MGI:1924298]|Heterozygous||C|T|20|40.0|Non-synonymous|Line Propagating
5130811|IGL00912|6|128552307|M->I|0.28|Benign|MGI:3039594|Bc048546|cDNA sequence BC048546 [Source:MGI Symbol;Acc:MGI:3039594]|Heterozygous||C|T|19|41.0|Non-synonymous|Line Propagating
5130812|IGL00912|6|147055921|I->N|0.98|Probably damaging|MGI:2385255|Mrps35|mitochondrial ribosomal protein S35 [Source:MGI Symbol;Acc:MGI:2385255]|Heterozygous||T|A|15|39.0|Non-synonymous|Line Propagating
5130813|IGL00912|9|55685955|L->S|||MGI:1925976|Scaper|S phase cyclin A-associated protein in the ER [Source:MGI Symbol;Acc:MGI:1925976]|Heterozygous||A|G|14|38.5|Non-synonymous|Line Propagating
5130814|IGL00912|2|76738832|T->K||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|G|T|13|39.0|Non-synonymous|Line Propagating
5130816|IGL00912|2|69182819|Disrupted splicing|||MGI:3606242|Nostrin|nitric oxide synthase trafficker [Source:MGI Symbol;Acc:MGI:3606242]|Heterozygous||G|A|56|39.0|Splice|Line Propagating
5130817|IGL00912|4|155082665|Disrupted splicing|||MGI:1915080|Rer1|RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915080]|Heterozygous|Mice heterozygous for a gene trap allele exhibit a slight reduction in the size of neuromuscular junctions and muscle fiber diameter.|A|G|40|39.0|Splice|Line Propagating
5132560|IGL00915|14|51887289|F->L||Benign|MGI:1098577|Mettl17|methyltransferase like 17 [Source:MGI Symbol;Acc:MGI:1098577]|Heterozygous||C|A|102|38.0|Non-synonymous|Line Propagating
5132561|IGL00915|6|42435349|I->K|0.96|Probably damaging|MGI:2681273|Tas2r126|taste receptor, type 2, member 126 [Source:MGI Symbol;Acc:MGI:2681273]|Heterozygous||T|A|99|39.0|Non-synonymous|Line Propagating
5132562|IGL00915|17|24374246|Y->N|1.0|Probably damaging|MGI:1351617|Abca3|ATP-binding cassette, sub-family A (ABC1), member 3 [Source:MGI Symbol;Acc:MGI:1351617]|Heterozygous|Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion.|T|A|71|40.0|Non-synonymous|Line Propagating
5132563|IGL00915|11|53176998|M->L||Benign|MGI:2443199|Fstl4|follistatin-like 4 [Source:MGI Symbol;Acc:MGI:2443199]|Heterozygous|Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure.|A|T|67|39.0|Non-synonymous|Line Propagating
5132564|IGL00915|12|119447014|D->N|1.0|Probably damaging|MGI:2685113|Macc1|metastasis associated in colon cancer 1 [Source:MGI Symbol;Acc:MGI:2685113]|Heterozygous||G|A|63|39.0|Non-synonymous|Line Propagating
5132565|IGL00915|2|79341499|S->P|0.73|Possibly damaging|MGI:3037816|Cerkl|ceramide kinase-like [Source:MGI Symbol;Acc:MGI:3037816]|Heterozygous||A|G|62|40.0|Non-synonymous|Line Propagating
5132566|IGL00915|13|59702185|S->G|0.22|Benign|MGI:1919469|Fam75d3|family with sequence similarity 75, member D3 [Source:MGI Symbol;Acc:MGI:1919469]|Heterozygous||T|C|52|40.0|Non-synonymous|Line Propagating
5132567|IGL00915|5|135249469|V->M|1.0|Probably damaging|MGI:1313278|Fzd9|frizzled homolog 9 (Drosophila) [Source:MGI Symbol;Acc:MGI:1313278]|Heterozygous|Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization.|C|T|40|40.0|Non-synonymous|Line Propagating
5132568|IGL00915|13|23791032|Y->F|0.01|Benign|MGI:2684869|Trim38|tripartite motif-containing 38 [Source:MGI Symbol;Acc:MGI:2684869]|Heterozygous||A|T|37|39.0|Non-synonymous|Line Propagating
5132569|IGL00915|5|76978613|C->Stop||N/A|MGI:1333795|Srp72|signal recognition particle 72 [Source:MGI Symbol;Acc:MGI:1333795]|Heterozygous||C|A|35|40.0|Non-synonymous|Line Propagating
5132570|IGL00915|1|163396857|R->Q||Benign|MGI:2138271|Gorab|golgin, RAB6-interacting [Source:MGI Symbol;Acc:MGI:2138271]|Heterozygous||C|T|33|40.0|Non-synonymous|Line Propagating
5132571|IGL00915|19|44400357|L->P|0.15|Benign|MGI:98239|Scd1|stearoyl-Coenzyme A desaturase 1 [Source:MGI Symbol;Acc:MGI:98239]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females.|A|G|33|39.0|Non-synonymous|Line Propagating
5132572|IGL00915|3|95346788|F->L|0.05|Benign|MGI:1934229|Setdb1|SET domain, bifurcated 1 [Source:MGI Symbol;Acc:MGI:1934229]|Heterozygous|Homozygous inactivation of this locus results in peri-implantation lethality. Inner cell mass growth is impaired in null blastocysts.|A|T|33|40.0|Non-synonymous|Line Propagating
5132573|IGL00915|3|5245523|I->F|0.98|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||A|T|32|38.0|Non-synonymous|Line Propagating
5132574|IGL00915|6|140642254|N->S||Benign|MGI:1338038|Aebp2|AE binding protein 2 [Source:MGI Symbol;Acc:MGI:1338038]|Heterozygous||A|G|32|37.0|Non-synonymous|Line Propagating
5132575|IGL00915|6|42460950|I->T||Benign|MGI:3030292|Olfr458|olfactory receptor 458 [Source:MGI Symbol;Acc:MGI:3030292]|Heterozygous||A|G|31|40.0|Non-synonymous|Line Propagating
5132576|IGL00915|17|80433938|S->P||Benign|MGI:98354|Sos1|son of sevenless homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:98354]|Heterozygous|Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene.|A|G|26|39.0|Non-synonymous|Line Propagating
5132577|IGL00915|2|146342522|S->P|1.0|Probably damaging|MGI:3036245|Ralgapa2|Ral GTPase activating protein, alpha subunit 2 (catalytic) [Source:MGI Symbol;Acc:MGI:3036245]|Heterozygous||A|G|25|40.0|Non-synonymous|Line Propagating
5132578|IGL00915|6|106779426|K->E||Benign|MGI:1917297|Trnt1|tRNA nucleotidyl transferase, CCA-adding, 1 [Source:MGI Symbol;Acc:MGI:1917297]|Heterozygous||A|G|23|40.0|Non-synonymous|Line Propagating
5132579|IGL00915|16|90779098|F->L|0.71|Possibly damaging|MGI:2146468|Urb1|URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]|Heterozygous||A|G|18|38.5|Non-synonymous|Line Propagating
5132580|IGL00915|19|17016253|E->G|1.0|Probably damaging|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
5132581|IGL00915|8|61987431|V->G|0.96|Probably damaging|MGI:2384570|Ddx60|DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 [Source:MGI Symbol;Acc:MGI:2384570]|Heterozygous||T|G|17|40.0|Non-synonymous|Line Propagating
5132582|IGL00915|12|13374752|C->Stop||N/A|MGI:1918419|Nbas|neuroblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1918419]|Heterozygous||C|A|15|41.0|Non-synonymous|Line Propagating
5132583|IGL00915|9|57143977|Disrupted splicing|||MGI:1920024|Neil1|nei endonuclease VIII-like 1 (E. coli) [Source:MGI Symbol;Acc:MGI:1920024]|Heterozygous|Homozygous null mice develop severe obesity, dyslipidemia, fatty liver disease and tend to show hyperinsulinemia and increased mtDNA damage and deletions. Sporadic phenotypes include reduced subcutaneous fat, skin ulcers, joint inflammation, infertility, and tumors. Male heterozygotes become obese.|A|G|44|39.0|Splice|Line Propagating
5132584|IGL00915|17|31008750|Disrupted splicing|||MGI:1929785|Umodl1|uromodulin-like 1 [Source:MGI Symbol;Acc:MGI:1929785]|Heterozygous||A|G|32|38.5|Splice|Line Propagating
5132585|IGL00915|3|96046350|Disrupted splicing|||MGI:891965|Vps45|vacuolar protein sorting 45 (yeast) [Source:MGI Symbol;Acc:MGI:891965]|Heterozygous||A|G|19|40.0|Splice|Line Propagating
5133729|IGL00917|7|86269441|M->K|0.99|Probably damaging|MGI:3030144|Olfr310|olfactory receptor 310 [Source:MGI Symbol;Acc:MGI:3030144]|Heterozygous||A|T|184|40.0|Non-synonymous|Line Propagating
5133730|IGL00917|3|142853625|D->E|0.18|Benign|MGI:109211|Pkn2|protein kinase N2 [Source:MGI Symbol;Acc:MGI:109211]|Heterozygous||G|T|109|40.0|Non-synonymous|Line Propagating
5133731|IGL00917|9|66854687|W->Stop||N/A|MGI:2442982|Rab8b|RAB8B, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:2442982]|Heterozygous||C|T|88|40.0|Non-synonymous|Line Propagating
5133732|IGL00917|5|121869105|L->R|0.95|Possibly damaging|MGI:107321|Cux2|cut-like homeobox 2 [Source:MGI Symbol;Acc:MGI:107321]|Heterozygous|Homozygotes for a targeted null mutation exhibit various neural defects.|A|C|76|37.0|Non-synonymous|Line Propagating
5133733|IGL00917|2|126374533|S->R|0.02|Benign|MGI:1859664|Atp8b4|ATPase, class I, type 8B, member 4 [Source:MGI Symbol;Acc:MGI:1859664]|Heterozygous||A|T|74|37.5|Non-synonymous|Line Propagating
5133734|IGL00917|2|29702523|V->A|0.01|Benign|MGI:104580|Rapgef1|Rap guanine nucleotide exchange factor (GEF) 1 [Source:MGI Symbol;Acc:MGI:104580]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality, altered neuroepithelium morphology, embryonic and extra-embryonic vascular defects, and reduced cell migration and adhesion.|T|C|54|37.5|Non-synonymous|Line Propagating
5133735|IGL00917|6|60975910|Q->Stop||N/A|MGI:1918195|Mmrn1|multimerin 1 [Source:MGI Symbol;Acc:MGI:1918195]|Heterozygous||C|T|53|39.0|Non-synonymous|Line Propagating
5133736|IGL00917|16|33058731|K->E|1.0|Probably damaging|MGI:1928894|Rpl35a|ribosomal protein L35A [Source:MGI Symbol;Acc:MGI:1928894]|Heterozygous||A|G|52|37.0|Non-synonymous|Line Propagating
5133737|IGL00917|14|16407354|I->V||Benign|MGI:98791|Top2b|topoisomerase (DNA) II beta [Source:MGI Symbol;Acc:MGI:98791]|Heterozygous|Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure.|A|G|49|41.0|Non-synonymous|Line Propagating
5133738|IGL00917|12|103088507|R->S|0.3|Benign|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||A|T|46|37.0|Non-synonymous|Line Propagating
5133739|IGL00917|5|81693574|T->I|0.45|Possibly damaging|MGI:2441950|Lphn3|latrophilin 3 [Source:MGI Symbol;Acc:MGI:2441950]|Heterozygous||C|T|46|40.5|Non-synonymous|Line Propagating
5133740|IGL00917|9|110862406|H->Q|0.92|Possibly damaging|MGI:2447303|Prss50|protease, serine, 50 [Source:MGI Symbol;Acc:MGI:2447303]|Heterozygous||T|A|46|38.5|Non-synonymous|Line Propagating
5133741|IGL00917|9|105057041|V->G|1.0|Probably damaging|MGI:2137204|Mrpl3|mitochondrial ribosomal protein L3 [Source:MGI Symbol;Acc:MGI:2137204]|Heterozygous||T|G|43|39.0|Non-synonymous|Line Propagating
5133743|IGL00917|2|92383218|S->T|0.03|Benign|MGI:1916742|1700029i15rik|RIKEN cDNA 1700029I15 gene [Source:MGI Symbol;Acc:MGI:1916742]|Heterozygous||T|A|35|36.0|Non-synonymous|Line Propagating
5133744|IGL00917|17|22339784|L->F||Benign|MGI:2442394|Zfp944|zinc finger protein 944 [Source:MGI Symbol;Acc:MGI:2442394]|Heterozygous||G|A|32|41.0|Non-synonymous|Line Propagating
5133745|IGL00917|8|40540738|M->K||Benign|MGI:1261835|Vps37a|vacuolar protein sorting 37A (yeast) [Source:MGI Symbol;Acc:MGI:1261835]|Heterozygous||T|A|30|41.0|Non-synonymous|Line Propagating
5133746|IGL00917|16|20422357|V->E||Benign|MGI:1351644|Abcc5|ATP-binding cassette, sub-family C (CFTR/MRP), member 5 [Source:MGI Symbol;Acc:MGI:1351644]|Heterozygous|Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles.|A|T|29|38.0|Non-synonymous|Line Propagating
5133747|IGL00917|13|30947544|M->T||Benign|MGI:2671003|Hus1b|Hus1 homolog b (S. pombe) [Source:MGI Symbol;Acc:MGI:2671003]|Heterozygous||A|G|28|38.5|Non-synonymous|Line Propagating
5133748|IGL00917|16|15739564|C->S|0.9|Possibly damaging|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|A|28|37.5|Non-synonymous|Line Propagating
5133749|IGL00917|7|6514578|S->P|1.0|Probably damaging|MGI:3031183|Olfr1349|olfactory receptor 1349 [Source:MGI Symbol;Acc:MGI:3031183]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
5133750|IGL00917|9|106710439|L->Q|1.0|Probably damaging|MGI:1933196|Rad54l2|RAD54 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1933196]|Heterozygous|Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis.|A|T|25|40.0|Non-synonymous|Line Propagating
5133751|IGL00917|6|125104946|R->Q|0.41|Benign|MGI:1344380|Chd4|chromodomain helicase DNA binding protein 4 [Source:MGI Symbol;Acc:MGI:1344380]|Heterozygous||G|A|24|38.5|Non-synonymous|Line Propagating
5133752|IGL00917|10|119210936|I->S|0.59|Possibly damaging|MGI:1261820|Cand1|cullin associated and neddylation disassociated 1 [Source:MGI Symbol;Acc:MGI:1261820]|Heterozygous||A|C|22|36.5|Non-synonymous|Line Propagating
5133753|IGL00917|13|16857918|Y->Stop||N/A|MGI:1923221|5033411d12rik|RIKEN cDNA 5033411D12 gene [Source:MGI Symbol;Acc:MGI:1923221]|Heterozygous||A|T|18|40.0|Non-synonymous|Line Propagating
5133754|IGL00917|18|74299296|D->G|1.0|Probably damaging|MGI:1921703|Ccdc11|coiled-coil domain containing 11 [Source:MGI Symbol;Acc:MGI:1921703]|Heterozygous||A|G|16|40.0|Non-synonymous|Line Propagating
5133755|IGL00917|8|61515935|V->A|0.3|Benign|MGI:1919583|Palld|palladin, cytoskeletal associated protein [Source:MGI Symbol;Acc:MGI:1919583]|Heterozygous|All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.|A|G|16|36.0|Non-synonymous|Line Propagating
5133756|IGL00917|10|127284119|L->P||Unknown|MGI:106378|Mbd6|methyl-CpG binding domain protein 6 [Source:MGI Symbol;Acc:MGI:106378]|Heterozygous||A|G|13|35.0|Non-synonymous|Line Propagating
5133757|IGL00917|9|117110115|S->P|0.71|Possibly damaging|MGI:2444477|Rbms3|RNA binding motif, single stranded interacting protein [Source:MGI Symbol;Acc:MGI:2444477]|Heterozygous||A|G|11|38.0|Non-synonymous|Line Propagating
5133758|IGL00917|17|30919469|Disrupted splicing|||MGI:99571|Glp1r|glucagon-like peptide 1 receptor [Source:MGI Symbol;Acc:MGI:99571]|Heterozygous|Glucose tolerance and pancreatic secretion is impaired in homozygous null mice.|A|G|60|38.5|Splice|Line Propagating
5133759|IGL00917|3|51308046|Disrupted splicing|||MGI:1916507|Elf2|E74-like factor 2 [Source:MGI Symbol;Acc:MGI:1916507]|Heterozygous||T|A|59|39.0|Splice|Line Propagating
5133760|IGL00917|12|4965837|Disrupted splicing|||MGI:2444798|Atad2b|ATPase family, AAA domain containing 2B [Source:MGI Symbol;Acc:MGI:2444798]|Heterozygous||A|T|58|39.0|Splice|Line Propagating
5133761|IGL00917|11|72212079|Disrupted splicing|||MGI:1914529|Med31|mediator of RNA polymerase II transcription, subunit 31 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1914529]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit developmental delay, reduced cell proliferation, reduced ossification and chondrogenesis, and death during late-gestation.|T|A|32|41.0|Splice|Line Propagating
5133762|IGL00917|1|179624992|Disrupted splicing|||MGI:2445141|Cnst|consortin, connexin sorting protein [Source:MGI Symbol;Acc:MGI:2445141]|Heterozygous||T|C|25|40.0|Splice|Line Propagating
5133763|IGL00917|9|105784254|Disrupted splicing|||MGI:2444259|Col6a6|collagen, type VI, alpha 6 [Source:MGI Symbol;Acc:MGI:2444259]|Heterozygous||T|C|25|41.0|Splice|Line Propagating
5133764|IGL00917|14|55773663|Disrupted splicing|||MGI:99674|Adcy4|adenylate cyclase 4 [Source:MGI Symbol;Acc:MGI:99674]|Heterozygous|Mice homozygous for disruptions of this gene display a normal phenotype.|T|A|17|39.0|Splice|Line Propagating
5136697|IGL00922|9|14799588|F->L|1.0|Probably damaging|MGI:1100512|Mre11a|meiotic recombination 11 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1100512]|Heterozygous|Though mutation of this locus affected chromosome stability, mutant mice were no more susceptible to tumorigenesis than wild-type mice. Mutant female mice showed reduced fertility.|T|C|100|39.0|Non-synonymous|Line Propagating
5136699|IGL00922|19|3411575|V->E||Unknown|MGI:95637|Gal|galanin [Source:MGI Symbol;Acc:MGI:95637]|Heterozygous||A|T|76|38.0|Non-synonymous|Line Propagating
5136700|IGL00922|7|45185306|E->G|0.65|Possibly damaging|MGI:2687329|Ccdc155|coiled-coil domain containing 155 [Source:MGI Symbol;Acc:MGI:2687329]|Heterozygous||T|C|70|40.0|Non-synonymous|Line Propagating
5136701|IGL00922|11|117153229|T->M|0.94|Possibly damaging|MGI:1921386|Sec14l1|SEC14-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1921386]|Heterozygous||C|T|61|39.0|Non-synonymous|Line Propagating
5136702|IGL00922|2|34991668|S->P|1.0|Probably damaging|MGI:96031|Hc|hemolytic complement [Source:MGI Symbol;Acc:MGI:96031]|Heterozygous|Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2.|A|G|58|39.0|Non-synonymous|Line Propagating
5136703|IGL00922|2|148044818|S->A|0.76|Possibly damaging|MGI:1347476|Foxa2|forkhead box A2 [Source:MGI Symbol;Acc:MGI:1347476]|Heterozygous|Embryos homozygous for targeted null mutations fail to form a distinct node, lack a notochord, and die by embryonic day 10 or 11. Mutants also exhibit defects of somite and neural tube organization, and lack a floor plate and motor neurons.|A|C|56|39.0|Non-synonymous|Line Propagating
5136704|IGL00922|15|99101579|L->R|0.71|Possibly damaging|MGI:1920028|Dnajc22|DnaJ (Hsp40) homolog, subfamily C, member 22 [Source:MGI Symbol;Acc:MGI:1920028]|Heterozygous||T|G|53|40.0|Non-synonymous|Line Propagating
5136705|IGL00922|11|12254866|D->V|0.98|Probably damaging|MGI:105056|Cobl|cordon-bleu [Source:MGI Symbol;Acc:MGI:105056]|Heterozygous|Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse.|T|A|52|37.0|Non-synonymous|Line Propagating
5136706|IGL00922|4|100966966|S->T||Benign|MGI:2444177|Cachd1|cache domain containing 1 [Source:MGI Symbol;Acc:MGI:2444177]|Heterozygous||T|A|51|38.0|Non-synonymous|Line Propagating
5136707|IGL00922|5|144318967|G->D|1.0|Probably damaging|MGI:1914148|Baiap2l1|BAI1-associated protein 2-like 1 [Source:MGI Symbol;Acc:MGI:1914148]|Heterozygous||C|T|48|39.0|Non-synonymous|Line Propagating
5136708|IGL00922|6|121360455|A->V|0.48|Possibly damaging|MGI:95628|Slc6a12|solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [Source:MGI Symbol;Acc:MGI:95628]|Heterozygous||C|T|46|37.0|Non-synonymous|Line Propagating
5136709|IGL00922|10|129691454|I->L|0.03|Benign|MGI:3030637|Olfr803|olfactory receptor 803 [Source:MGI Symbol;Acc:MGI:3030637]|Heterozygous||T|G|41|39.0|Non-synonymous|Line Propagating
5136710|IGL00922|3|159614542|D->A|1.0|Probably damaging|MGI:98001|Rpe65|retinal pigment epithelium 65 [Source:MGI Symbol;Acc:MGI:98001]|Heterozygous|Homozygous null mutants exhibit disorganized outer segment discs, reduced rod function, lack of rhodopsin and lipofuscin flurophores, and over-accumulation of all-trans-retinyl esters in the retinal pigment epithelium.|A|C|40|39.0|Non-synonymous|Line Propagating
5136711|IGL00922|7|85618693|S->R||Benign|MGI:3646472|Vmn2r71|vomeronasal 2, receptor 71 [Source:MGI Symbol;Acc:MGI:3646472]|Heterozygous||T|G|40|39.0|Non-synonymous|Line Propagating
5136712|IGL00922|4|130952974|Q->L||Benign|MGI:106591|Matn1|matrilin 1, cartilage matrix protein [Source:MGI Symbol;Acc:MGI:106591]|Heterozygous|Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects.|A|T|38|40.5|Non-synonymous|Line Propagating
5136713|IGL00922|12|55845326|Y->C|0.9|Possibly damaging|MGI:1196337|Brms1l|breast cancer metastasis-suppressor 1-like [Source:MGI Symbol;Acc:MGI:1196337]|Heterozygous||A|G|37|40.0|Non-synonymous|Line Propagating
5136714|IGL00922|5|114360485|Y->H|1.0|Probably damaging|MGI:1914674|Myo1h|myosin 1H [Source:MGI Symbol;Acc:MGI:1914674]|Heterozygous||T|C|37|39.0|Non-synonymous|Line Propagating
5136715|IGL00922|14|75769598|Y->N|1.0|Probably damaging|MGI:1914804|Slc25a30|solute carrier family 25, member 30 [Source:MGI Symbol;Acc:MGI:1914804]|Heterozygous||A|T|33|39.0|Non-synonymous|Line Propagating
5136716|IGL00922|8|95077978|V->I||Benign|MGI:2685616|Ccdc135|coiled-coil domain containing 135 [Source:MGI Symbol;Acc:MGI:2685616]|Heterozygous||G|A|26|37.5|Non-synonymous|Line Propagating
5136717|IGL00922|5|103588088|V->D|||MGI:103293|Ptpn13|protein tyrosine phosphatase, non-receptor type 13 [Source:MGI Symbol;Acc:MGI:103293]|Heterozygous|Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.|T|A|22|38.5|Non-synonymous|Line Propagating
5136719|IGL00922|2|121208482|T->S|0.81|Possibly damaging|MGI:1351320|Trp53bp1|transformation related protein 53 binding protein 1 [Source:MGI Symbol;Acc:MGI:1351320]|Heterozygous|Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas.|T|A|20|39.0|Non-synonymous|Line Propagating
5136720|IGL00922|4|127351353|Y->C|0.78|Possibly damaging|MGI:95722|Gjb4|gap junction protein, beta 4 [Source:MGI Symbol;Acc:MGI:95722]|Heterozygous|Mice homozygous for a reporter allele display reduced behavioral responses to a vanilla scent, suggesting impaired olfaction.|T|C|20|39.0|Non-synonymous|Line Propagating
5136721|IGL00922|5|123440065|N->I|1.0|Probably damaging|MGI:2141183|Mlxip|MLX interacting protein [Source:MGI Symbol;Acc:MGI:2141183]|Heterozygous||A|T|20|39.0|Non-synonymous|Line Propagating
5136722|IGL00922|8|85555237|V->E|0.69|Possibly damaging|MGI:1931882|Dnaja2|DnaJ (Hsp40) homolog, subfamily A, member 2 [Source:MGI Symbol;Acc:MGI:1931882]|Heterozygous||A|T|19|33.0|Non-synonymous|Line Propagating
5136723|IGL00922|5|114947177|F->L|0.99|Probably damaging|MGI:1919607|2210016l21rik|RIKEN cDNA 2210016L21 gene [Source:MGI Symbol;Acc:MGI:1919607]|Heterozygous||T|C|18|37.0|Non-synonymous|Line Propagating
5136724|IGL00922|9|95907345|M->K|0.52|Possibly damaging|MGI:108028|Atr|ataxia telangiectasia and Rad3 related [Source:MGI Symbol;Acc:MGI:108028]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence.|T|A|17|41.0|Non-synonymous|Line Propagating
5136725|IGL00922|7|109720676|C->F|0.07|Benign|MGI:1928824|Bc051019|cDNA sequence BC051019 [Source:MGI Symbol;Acc:MGI:1928824]|Heterozygous||C|A|10|35.0|Non-synonymous|Line Propagating
5136726|IGL00922|7|110833734|Disrupted splicing|||MGI:1914400|Rnf141|ring finger protein 141 [Source:MGI Symbol;Acc:MGI:1914400]|Heterozygous||T|C|185|40.0|Splice|Line Propagating
5136727|IGL00922|15|89422288|Disrupted splicing|||MGI:1098297|Cpt1b|carnitine palmitoyltransferase 1b, muscle [Source:MGI Symbol;Acc:MGI:1098297]|Heterozygous|Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected.|C|T|83|37.0|Splice|Line Propagating
5136728|IGL00922|4|133243044|Disrupted splicing|||MGI:1855691|Map3k6|mitogen-activated protein kinase kinase kinase 6 [Source:MGI Symbol;Acc:MGI:1855691]|Heterozygous|Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis.|C|T|72|39.0|Splice|Line Propagating
5136729|IGL00922|4|152537309|Disrupted splicing|||MGI:2384210|Nphp4|nephronophthisis 4 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:2384210]|Heterozygous|Mutant mice have a mottled retina with photoreceptor degeneration and male infertility associated with oligozoospermia and asthenozoospermia.|C|T|61|38.0|Splice|Line Propagating
5136730|IGL00922|5|120623810|Disrupted splicing|||MGI:1919240|Ddx54|DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 [Source:MGI Symbol;Acc:MGI:1919240]|Heterozygous||T|A|56|39.0|Splice|Line Propagating
5136731|IGL00922|6|73033526|Disrupted splicing|||MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|T|47|40.0|Splice|Line Propagating
5137908|IGL00924|7|41837467|L->H|1.0|Probably damaging|MGI:3647877|Vmn2r58|vomeronasal 2, receptor 58 [Source:MGI Symbol;Acc:MGI:3647877]|Heterozygous||A|T|105|40.0|Non-synonymous|Line Propagating
5137909|IGL00924|11|120563818|Q->K||Benign|MGI:97464|P4hb|prolyl 4-hydroxylase, beta polypeptide [Source:MGI Symbol;Acc:MGI:97464]|Heterozygous||G|T|95|39.0|Non-synonymous|Line Propagating
5137910|IGL00924|8|3611723|R->W|1.0|Probably damaging|MGI:1914689|Xab2|XPA binding protein 2 [Source:MGI Symbol;Acc:MGI:1914689]|Heterozygous|Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction.|G|A|95|39.0|Non-synonymous|Line Propagating
5137911|IGL00924|8|106878599|F->S|0.91|Possibly damaging|MGI:109599|Has3|hyaluronan synthase 3 [Source:MGI Symbol;Acc:MGI:109599]|Heterozygous|Mice homozygous for a null allele are viable and fertile with normal static and dynamic compliances and display a reduced high tidal volume ventilation-induced inflammatory response.|T|C|87|38.0|Non-synonymous|Line Propagating
5137913|IGL00924|10|120110984|K->N|0.01|Benign|MGI:2152895|Helb|helicase (DNA) B [Source:MGI Symbol;Acc:MGI:2152895]|Heterozygous||T|A|78|40.0|Non-synonymous|Line Propagating
5137914|IGL00924|2|88756156|D->G|0.99|Probably damaging|MGI:3031033|Olfr1199|olfactory receptor 1199 [Source:MGI Symbol;Acc:MGI:3031033]|Heterozygous||T|C|70|39.0|Non-synonymous|Line Propagating
5137915|IGL00924|3|30936475|M->K|0.15|Benign|MGI:2181434|Phc3|polyhomeotic-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2181434]|Heterozygous||A|T|64|40.0|Non-synonymous|Line Propagating
5137916|IGL00924|17|24571627|L->Stop||N/A|MGI:97603|Pkd1|polycystic kidney disease 1 homolog [Source:MGI Symbol;Acc:MGI:97603]|Heterozygous|Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.|T|A|61|35.0|Non-synonymous|Line Propagating
5137917|IGL00924|19|5970516|K->E|0.01|Benign|MGI:2685809|Slc22a20|solute carrier family 22 (organic anion transporter), member 20 [Source:MGI Symbol;Acc:MGI:2685809]|Heterozygous||T|C|60|40.0|Non-synonymous|Line Propagating
5137918|IGL00924|19|10517016|P->S|1.0|Probably damaging|MGI:1913322|Sdhaf2|succinate dehydrogenase complex assembly factor 2 [Source:MGI Symbol;Acc:MGI:1913322]|Heterozygous||G|A|59|39.0|Non-synonymous|Line Propagating
5137919|IGL00924|1|172246772|I->F|1.0|Probably damaging|MGI:1351335|Atp1a4|ATPase, Na+/K+ transporting, alpha 4 polypeptide [Source:MGI Symbol;Acc:MGI:1351335]|Heterozygous|Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.|T|A|56|39.0|Non-synonymous|Line Propagating
5137920|IGL00924|19|4620937|V->I||Benign|MGI:97520|Pcx|pyruvate carboxylase [Source:MGI Symbol;Acc:MGI:97520]|Heterozygous||G|A|56|39.0|Non-synonymous|Line Propagating
5137921|IGL00924|6|40571454|R->C|0.01|Benign|MGI:3030294|Olfr460|olfactory receptor 460 [Source:MGI Symbol;Acc:MGI:3030294]|Heterozygous||C|T|53|40.0|Non-synonymous|Line Propagating
5137922|IGL00924|8|36938214|S->R|0.68|Possibly damaging|MGI:1354949|Dlc1|deleted in liver cancer 1 [Source:MGI Symbol;Acc:MGI:1354949]|Heterozygous|Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta.|A|T|50|40.0|Non-synonymous|Line Propagating
5137923|IGL00924|1|59215862|V->A||Benign|MGI:1921268|Als2|amyotrophic lateral sclerosis 2 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1921268]|Heterozygous|Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract.|A|G|49|36.0|Non-synonymous|Line Propagating
5137924|IGL00924|12|84387054|V->E|1.0|Probably damaging|MGI:1321385|Entpd5|ectonucleoside triphosphate diphosphohydrolase 5 [Source:MGI Symbol;Acc:MGI:1321385]|Heterozygous|Mice homozygous for a null allele develop progressive hepatopathy, hepatocellular tumors, and spermatogenic arrest.|A|T|45|37.0|Non-synonymous|Line Propagating
5137925|IGL00924|10|128817319|T->A||Benign|MGI:1921580|Dnajc14|DnaJ (Hsp40) homolog, subfamily C, member 14 [Source:MGI Symbol;Acc:MGI:1921580]|Heterozygous||A|G|39|37.0|Non-synonymous|Line Propagating
5137926|IGL00924|8|19142640|V->D|1.0|Probably damaging|MGI:3647173|Spag11b|sperm associated antigen 11B [Source:MGI Symbol;Acc:MGI:3647173]|Heterozygous||T|A|39|40.0|Non-synonymous|Line Propagating
5137927|IGL00924|8|70108389|M->L|0.89|Possibly damaging|MGI:104694|Ncan|neurocan [Source:MGI Symbol;Acc:MGI:104694]|Heterozygous|Mice homozygous for targeted null mutations are viable and fertile and exhibit normal behavior and brain anatomy; however, mild defects in long term potentiation were noted.|T|A|38|38.5|Non-synonymous|Line Propagating
5137928|IGL00924|13|100097579|E->D|0.29|Benign|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||T|A|37|40.0|Non-synonymous|Line Propagating
5137929|IGL00924|2|157040705|M->L|0.95|Possibly damaging|MGI:2444575|9830001h06rik|RIKEN cDNA 9830001H06 gene [Source:MGI Symbol;Acc:MGI:2444575]|Heterozygous||T|G|36|35.0|Non-synonymous|Line Propagating
5137930|IGL00924|11|100584285|I->T|0.02|Benign|MGI:1928373|Dnajc7|DnaJ (Hsp40) homolog, subfamily C, member 7 [Source:MGI Symbol;Acc:MGI:1928373]|Heterozygous||A|G|31|39.0|Non-synonymous|Line Propagating
5137931|IGL00924|2|130038374|C->R|1.0|Probably damaging|MGI:98732|Tgm3|transglutaminase 3, E polypeptide [Source:MGI Symbol;Acc:MGI:98732]|Heterozygous|Mice homozygous for an ENU mutagenesis exhibit rough-looking, curly hair.|T|C|30|39.5|Non-synonymous|Line Propagating
5137932|IGL00924|11|68594621|I->V||Benign|MGI:3045254|Ccdc42|coiled-coil domain containing 42 [Source:MGI Symbol;Acc:MGI:3045254]|Heterozygous||A|G|28|40.0|Non-synonymous|Line Propagating
5137933|IGL00924|3|136247634|A->E|0.18|Benign|MGI:2442120|Bank1|B-cell scaffold protein with ankyrin repeats 1 [Source:MGI Symbol;Acc:MGI:2442120]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased germinal center formation and IgM production in response to T-dependent antigens, and show enhanced CD40-mediated B cell proliferative and survival responses.|G|T|28|40.0|Non-synonymous|Line Propagating
5137934|IGL00924|2|120606051|M->K|0.01|Benign|MGI:1913856|Lrrc57|leucine rich repeat containing 57 [Source:MGI Symbol;Acc:MGI:1913856]|Heterozygous||A|T|27|38.0|Non-synonymous|Line Propagating
5137936|IGL00924|7|119184287|C->R|0.31|Benign|MGI:2685341|Gpr139|G protein-coupled receptor 139 [Source:MGI Symbol;Acc:MGI:2685341]|Heterozygous||A|G|27|39.0|Non-synonymous|Line Propagating
5137937|IGL00924|15|88729409|K->E|0.07|Benign|MGI:1924161|Brd1|bromodomain containing 1 [Source:MGI Symbol;Acc:MGI:1924161]|Heterozygous||T|C|25|39.0|Non-synonymous|Line Propagating
5137938|IGL00924|13|55004514|E->K|0.98|Probably damaging|MGI:894682|Unc5a|unc-5 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:894682]|Heterozygous|Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord.|G|A|23|39.0|Non-synonymous|Line Propagating
5137939|IGL00924|7|30265218|T->I|0.26|Benign|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||G|A|22|40.0|Non-synonymous|Line Propagating
5137940|IGL00924|11|72443567|F->Y|1.0|Probably damaging|MGI:106181|Mybbp1a|MYB binding protein (P160) 1a [Source:MGI Symbol;Acc:MGI:106181]|Heterozygous||T|A|19|38.0|Non-synonymous|Line Propagating
5137941|IGL00924|10|117676066|I->S|0.99|Probably damaging|MGI:1917824|Cpm|carboxypeptidase M [Source:MGI Symbol;Acc:MGI:1917824]|Heterozygous||T|G|18|41.0|Non-synonymous|Line Propagating
5137942|IGL00924|4|126238605|V->A|0.99|Probably damaging|MGI:2384297|Mtap7d1|microtubule-associated protein 7 domain containing 1 [Source:MGI Symbol;Acc:MGI:2384297]|Heterozygous||A|G|18|37.5|Non-synonymous|Line Propagating
5137943|IGL00924|7|30242806|P->S|1.0|Probably damaging|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||G|A|18|36.5|Non-synonymous|Line Propagating
5137944|IGL00924|13|14637075|N->S|0.52|Possibly damaging|MGI:2145422|Aw209491|expressed sequence AW209491 [Source:MGI Symbol;Acc:MGI:2145422]|Heterozygous||A|G|17|40.0|Non-synonymous|Line Propagating
5137945|IGL00924|13|47068480|R->H|0.02|Benign|MGI:2145261|Kdm1b|lysine (K)-specific demethylase 1B [Source:MGI Symbol;Acc:MGI:2145261]|Heterozygous|Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5.|G|A|16|41.0|Non-synonymous|Line Propagating
5137946|IGL00924|13|64174071|D->G|0.65|Possibly damaging|MGI:1891713|Habp4|hyaluronic acid binding protein 4 [Source:MGI Symbol;Acc:MGI:1891713]|Heterozygous||A|G|15|39.0|Non-synonymous|Line Propagating
5137947|IGL00924|14|55023169|I->T|1.0|Probably damaging|MGI:1916216|Ngdn|neuroguidin, EIF4E binding protein [Source:MGI Symbol;Acc:MGI:1916216]|Heterozygous||T|C|11|40.0|Non-synonymous|Line Propagating
5137948|IGL00924|5|76858986|T->A||Benign|MGI:2444817|C530008m17rik|RIKEN cDNA C530008M17 gene [Source:MGI Symbol;Acc:MGI:2444817]|Heterozygous||A|G|10|39.0|Non-synonymous|Line Propagating
5138524|IGL00925|7|26611190|L->F||Benign|MGI:2159634|Vmn1r185|vomeronasal 1 receptor 185 [Source:MGI Symbol;Acc:MGI:2159634]|Heterozygous||G|A|120|41.0|Non-synonymous|Line Propagating
5138525|IGL00925|5|33372301|V->A|0.01|Benign|MGI:1891748|Maea|macrophage erythroblast attacher [Source:MGI Symbol;Acc:MGI:1891748]|Heterozygous|Mice homozygous for a gene trapped allele die perinatally displaying reduced fetal size, pallor, reduced numbers of erythroblastic islands, defects in terminal erythroid maturation, and severely impaired terminal differentiation of fetal liver macrophages.|T|C|118|40.0|Non-synonymous|Line Propagating
5138526|IGL00925|9|42375035|D->G||Benign|MGI:109575|Tecta|tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]|Heterozygous|Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.|T|C|95|37.0|Non-synonymous|Line Propagating
5138527|IGL00925|4|151013598|Y->C|0.94|Possibly damaging|MGI:1277134|Per3|period homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1277134]|Heterozygous|Mice homozygous for a targeted null mutation exhibit a shorter circadian cycle length.|T|C|90|39.0|Non-synonymous|Line Propagating
5138528|IGL00925|1|176793524|D->G|0.47|Possibly damaging|MGI:1918348|Cep170|centrosomal protein 170 [Source:MGI Symbol;Acc:MGI:1918348]|Heterozygous||T|C|82|38.0|Non-synonymous|Line Propagating
5138529|IGL00925|5|109047019|T->A||Benign|MGI:3643806|Vmn2r11|vomeronasal 2, receptor 11 [Source:MGI Symbol;Acc:MGI:3643806]|Heterozygous||T|C|67|38.0|Non-synonymous|Line Propagating
5138530|IGL00925|14|75260750|Y->H|0.98|Probably damaging|MGI:1891837|Cpb2|carboxypeptidase B2 (plasma) [Source:MGI Symbol;Acc:MGI:1891837]|Heterozygous||T|C|62|39.0|Non-synonymous|Line Propagating
5138531|IGL00925|6|48931040|Y->N|1.0|Probably damaging|MGI:1917011|1600015i10rik|RIKEN cDNA 1600015I10 gene [Source:MGI Symbol;Acc:MGI:1917011]|Heterozygous||T|A|62|40.0|Non-synonymous|Line Propagating
5138532|IGL00925|12|98976018|N->S|0.97|Probably damaging|MGI:1923510|Ttc8|tetratricopeptide repeat domain 8 [Source:MGI Symbol;Acc:MGI:1923510]|Heterozygous|Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation.|A|G|52|39.0|Non-synonymous|Line Propagating
5138533|IGL00925|X|64272051|P->T|1.0|Probably damaging|MGI:2442509|Slitrk4|SLIT and NTRK-like family, member 4 [Source:MGI Symbol;Acc:MGI:2442509]|Heterozygous||G|T|47|39.0|Non-synonymous|Line Propagating
5138534|IGL00925|5|107557327|N->K|1.0|Probably damaging|MGI:2141180|Glmn|glomulin, FKBP associated protein [Source:MGI Symbol;Acc:MGI:2141180]|Heterozygous||A|T|40|39.0|Non-synonymous|Line Propagating
5138535|IGL00925|2|140167817|S->P|0.79|Possibly damaging|MGI:1913830|Esf1|ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913830]|Heterozygous||A|G|38|41.0|Non-synonymous|Line Propagating
5138536|IGL00925|2|86162920|T->A|0.32|Benign|MGI:3030877|Olfr1043|olfactory receptor 1043 [Source:MGI Symbol;Acc:MGI:3030877]|Heterozygous||T|C|34|39.5|Non-synonymous|Line Propagating
5138537|IGL00925|6|72234569|V->A|0.88|Possibly damaging|MGI:1918343|Atoh8|atonal homolog 8 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918343]|Heterozygous|Mice homozygous for a knock-in allele appear to be developmentally arrested at or slightly after gastrulation.|A|G|32|35.0|Non-synonymous|Line Propagating
5138538|IGL00925|16|57045255|N->Y|0.99|Probably damaging|MGI:1916707|2310005g13rik|RIKEN cDNA 2310005G13 gene [Source:MGI Symbol;Acc:MGI:1916707]|Heterozygous||T|A|28|38.5|Non-synonymous|Line Propagating
5138539|IGL00925|2|161656163|S->P||Benign|MGI:1321152|Ptprt|protein tyrosine phosphatase, receptor type, T [Source:MGI Symbol;Acc:MGI:1321152]|Heterozygous|Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors.|A|G|28|39.5|Non-synonymous|Line Propagating
5138540|IGL00925|9|57955838|C->F|1.0|Probably damaging|MGI:1306826|Sema7a|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A [Source:MGI Symbol;Acc:MGI:1306826]|Heterozygous|The development of the olfactory tract is impaired in homozygous null mice.|G|T|28|39.0|Non-synonymous|Line Propagating
5138541|IGL00925|2|6721577|D->E||Benign|MGI:1338822|Celf2|CUGBP, Elav-like family member 2 [Source:MGI Symbol;Acc:MGI:1338822]|Heterozygous||A|T|26|40.0|Non-synonymous|Line Propagating
5138542|IGL00925|18|32845631|T->A|1.0|Probably damaging|MGI:1917819|Wdr36|WD repeat domain 36 [Source:MGI Symbol;Acc:MGI:1917819]|Heterozygous|Mice homozygous for a knock-out allele fail to form blastocele and die prior to implantation.|A|G|25|39.0|Non-synonymous|Line Propagating
5138543|IGL00925|5|14766741|S->P|1.0|Probably damaging|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|T|C|22|39.0|Non-synonymous|Line Propagating
5138544|IGL00925|14|55073061|P->L||Unknown|MGI:2686934|Zfhx2|zinc finger homeobox 2 [Source:MGI Symbol;Acc:MGI:2686934]|Heterozygous||G|A|21|37.0|Non-synonymous|Line Propagating
5138545|IGL00925|17|56320535|D->G|0.01|Benign|MGI:1338889|Uhrf1|ubiquitin-like, containing PHD and RING finger domains, 1 [Source:MGI Symbol;Acc:MGI:1338889]|Heterozygous|Mice homozygous fordisruption of this marker die early in gestation showing growth retardation and various malformations.|A|G|17|37.0|Non-synonymous|Line Propagating
5138547|IGL00925|11|97280283|V->A|0.98|Probably damaging|MGI:1101358|Npepps|aminopeptidase puromycin sensitive [Source:MGI Symbol;Acc:MGI:1101358]|Heterozygous|Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis.|A|G|15|33.0|Non-synonymous|Line Propagating
5138548|IGL00925|X|47947097|E->G|0.03|Benign|MGI:109589|Ocrl|oculocerebrorenal syndrome of Lowe [Source:MGI Symbol;Acc:MGI:109589]|Heterozygous|Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe.|A|G|15|37.0|Non-synonymous|Line Propagating
5138549|IGL00925|3|146748042|P->H||Benign|MGI:97594|Prkacb|protein kinase, cAMP dependent, catalytic, beta [Source:MGI Symbol;Acc:MGI:97594]|Heterozygous|Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation.|G|T|11|39.0|Non-synonymous|Line Propagating
5138551|IGL00925|8|106695445|Disrupted splicing|||MGI:2142786|Tmco7|transmembrane and coiled-coil domains 7 [Source:MGI Symbol;Acc:MGI:2142786]|Heterozygous||T|G|61|40.0|Splice|Line Propagating
5138552|IGL00925|1|33776261|Disrupted splicing|||MGI:2137896|Zfp451|zinc finger protein 451 [Source:MGI Symbol;Acc:MGI:2137896]|Heterozygous||A|G|34|40.0|Splice|Line Propagating
5139124|IGL00926|5|101809901|I->M|0.95|Possibly damaging|MGI:1921846|Cds1|CDP-diacylglycerol synthase 1 [Source:MGI Symbol;Acc:MGI:1921846]|Heterozygous||A|G|124|40.0|Non-synonymous|Line Propagating
5139125|IGL00926|1|5598905|I->M|0.95|Possibly damaging|MGI:97439|Oprk1|opioid receptor, kappa 1 [Source:MGI Symbol;Acc:MGI:97439]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired response to morphine and an opioid agonist, abnormal pain threshold, and increased litter size.|A|G|101|40.0|Non-synonymous|Line Propagating
5139126|IGL00926|14|12491795|R->L|1.0|Probably damaging|MGI:1350922|Cadps|Ca2+-dependent secretion activator [Source:MGI Symbol;Acc:MGI:1350922]|Heterozygous|Homozygous null mice display neonatal lethality, respiratory failure and abnormal adrenal gland physiology. Adult heterozygous null mice display abnormal adrenal gland physiology that is different from that seen in homozygous neonates.|C|A|95|40.0|Non-synonymous|Line Propagating
5139128|IGL00926|2|125319042|T->S|0.04|Benign|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|T|A|71|38.0|Non-synonymous|Line Propagating
5139129|IGL00926|X|21486285|M->L||Benign|MGI:87966|Agtr2|angiotensin II receptor, type 2 [Source:MGI Symbol;Acc:MGI:87966]|Heterozygous|Mice homozygous for a knock-out allele may exhibit abnormal response to angiotensin II, induced panreatitis, and myocardial infarction; cardiovascular morphology and physiology; renal and unrinary morphology and physiology; and glucose and lipid homeostasis.|A|T|67|41.0|Non-synonymous|Line Propagating
5139130|IGL00926|3|125561453|T->S||Benign|MGI:1932545|Ndst4|N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 [Source:MGI Symbol;Acc:MGI:1932545]|Heterozygous||A|T|48|41.0|Non-synonymous|Line Propagating
5139131|IGL00926|7|103598162|N->S|0.52|Possibly damaging|MGI:3030452|Olfr618|olfactory receptor 618 [Source:MGI Symbol;Acc:MGI:3030452]|Heterozygous||A|G|45|39.0|Non-synonymous|Line Propagating
5139133|IGL00926|1|163996226|S->T|0.81|Possibly damaging|MGI:1917212|2810422o20rik|RIKEN cDNA 2810422O20 gene [Source:MGI Symbol;Acc:MGI:1917212]|Heterozygous||T|A|41|40.0|Non-synonymous|Line Propagating
5139134|IGL00926|12|8015421|V->A|0.69|Possibly damaging|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|T|C|39|40.0|Non-synonymous|Line Propagating
5139135|IGL00926|5|31243797|S->P|0.07|Benign|MGI:2183436|Nrbp1|nuclear receptor binding protein 1 [Source:MGI Symbol;Acc:MGI:2183436]|Heterozygous||T|C|39|38.0|Non-synonymous|Line Propagating
5139136|IGL00926|5|92650767|T->I|0.96|Probably damaging|MGI:2444555|Ccdc158|coiled-coil domain containing 158 [Source:MGI Symbol;Acc:MGI:2444555]|Heterozygous||G|A|38|40.0|Non-synonymous|Line Propagating
5139137|IGL00926|7|103946997|T->A|0.03|Benign|MGI:3030467|Olfr633|olfactory receptor 633 [Source:MGI Symbol;Acc:MGI:3030467]|Heterozygous||A|G|37|36.0|Non-synonymous|Line Propagating
5139138|IGL00926|10|60292536|V->A|0.96|Probably damaging|MGI:97783|Psap|prosaposin [Source:MGI Symbol;Acc:MGI:97783]|Heterozygous|Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney.|T|C|33|39.0|Non-synonymous|Line Propagating
5139139|IGL00926|6|122922055|C->S|0.12|Benign|MGI:3036291|Clec4a1|C-type lectin domain family 4, member a1 [Source:MGI Symbol;Acc:MGI:3036291]|Heterozygous||T|A|33|39.0|Non-synonymous|Line Propagating
5139140|IGL00926|15|47710964|Y->F|0.95|Possibly damaging|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||T|A|32|40.0|Non-synonymous|Line Propagating
5139141|IGL00926|2|66684131|E->K|1.0|Probably damaging|MGI:102965|Scn7a|sodium channel, voltage-gated, type VII, alpha [Source:MGI Symbol;Acc:MGI:102965]|Heterozygous|Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise.|C|T|29|41.0|Non-synonymous|Line Propagating
5139142|IGL00926|1|51300877|K->E|1.0|Probably damaging|MGI:99513|Sdpr|serum deprivation response [Source:MGI Symbol;Acc:MGI:99513]|Heterozygous||A|G|28|39.5|Non-synonymous|Line Propagating
5139143|IGL00926|3|116590235|Q->Stop||N/A|MGI:1925219|Ccdc76|coiled-coil domain containing 76 [Source:MGI Symbol;Acc:MGI:1925219]|Heterozygous||G|A|25|39.0|Non-synonymous|Line Propagating
5139144|IGL00926|11|86148401|K->E|0.68|Possibly damaging|MGI:2442836|Brip1|BRCA1 interacting protein C-terminal helicase 1 [Source:MGI Symbol;Acc:MGI:2442836]|Heterozygous||T|C|23|37.0|Non-synonymous|Line Propagating
5139145|IGL00926|2|76758781|E->G|0.97|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|20|39.0|Non-synonymous|Line Propagating
5139146|IGL00926|7|25314730|N->S|0.93|Possibly damaging|MGI:3607779|Tmem145|transmembrane protein 145 [Source:MGI Symbol;Acc:MGI:3607779]|Heterozygous||A|G|19|35.0|Non-synonymous|Line Propagating
5139147|IGL00926|16|32107080|E->G|1.0|Probably damaging|MGI:1914244|1500031l02rik|RIKEN cDNA 1500031L02 gene [Source:MGI Symbol;Acc:MGI:1914244]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
5139148|IGL00926|11|95065886|H->Y|0.97|Probably damaging|MGI:96602|Itga3|integrin alpha 3 [Source:MGI Symbol;Acc:MGI:96602]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality.|G|A|13|38.0|Non-synonymous|Line Propagating
5139152|IGL00926|19|13634057|Disrupted splicing|||MGI:3031323|Olfr1489|olfactory receptor 1489 [Source:MGI Symbol;Acc:MGI:3031323]|Heterozygous||G|T|55|40.0|Splice|Line Propagating
5139153|IGL00926|6|42956436|Disrupted splicing|||MGI:3030278|Olfr444|olfactory receptor 444 [Source:MGI Symbol;Acc:MGI:3030278]|Heterozygous||A|T|46|40.0|Splice|Line Propagating
5139154|IGL00926|2|52270317|Disrupted splicing|||MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|G|31|40.0|Splice|Line Propagating
5139155|IGL00926|3|8947632|Disrupted splicing|||MGI:107749|Tpd52|tumor protein D52 [Source:MGI Symbol;Acc:MGI:107749]|Heterozygous||A|T|26|39.0|Splice|Line Propagating
5139156|IGL00926|4|116587513|Disrupted splicing|||MGI:1924360|Gpbp1l1|GC-rich promoter binding protein 1-like 1 [Source:MGI Symbol;Acc:MGI:1924360]|Heterozygous||T|A|16|40.0|Splice|Line Propagating
5139157|IGL00926|5|100765082|Disrupted splicing|||MGI:2176740|Helq|helicase, POLQ-like [Source:MGI Symbol;Acc:MGI:2176740]|Heterozygous||T|C|14|38.0|Splice|Line Propagating
5139725|IGL00927|7|21162291|V->D|0.59|Possibly damaging|MGI:2686292|Vmn1r123|vomeronasal 1 receptor 123 [Source:MGI Symbol;Acc:MGI:2686292]|Heterozygous||T|A|219|38.0|Non-synonymous|Line Propagating
5139727|IGL00927|8|14033518|F->S|1.0|Probably damaging|MGI:3588201|Erich1|glutamate-rich 1 [Source:MGI Symbol;Acc:MGI:3588201]|Heterozygous||A|G|80|38.0|Non-synonymous|Line Propagating
5139728|IGL00927|8|41287881|T->A|0.98|Probably damaging|MGI:1277958|Pcm1|pericentriolar material 1 [Source:MGI Symbol;Acc:MGI:1277958]|Heterozygous||A|G|76|39.0|Non-synonymous|Line Propagating
5139729|IGL00927|7|105369247|Y->F|0.79|Possibly damaging|MGI:3030526|Olfr692|olfactory receptor 692 [Source:MGI Symbol;Acc:MGI:3030526]|Heterozygous||A|T|75|39.0|Non-synonymous|Line Propagating
5139730|IGL00927|16|52166098|N->S||Benign|MGI:2146430|Cblb|Casitas B-lineage lymphoma b [Source:MGI Symbol;Acc:MGI:2146430]|Heterozygous|Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis.|A|G|74|38.0|Non-synonymous|Line Propagating
5139731|IGL00927|3|108199627|L->P|1.0|Probably damaging|MGI:1919273|Cyb561d1|cytochrome b-561 domain containing 1 [Source:MGI Symbol;Acc:MGI:1919273]|Heterozygous||A|G|73|39.0|Non-synonymous|Line Propagating
5139732|IGL00927|3|158161090|V->L|0.94|Possibly damaging|MGI:2676665|Lrrc7|leucine rich repeat containing 7 [Source:MGI Symbol;Acc:MGI:2676665]|Heterozygous||C|A|67|38.0|Non-synonymous|Line Propagating
5139733|IGL00927|6|54629837|Y->Stop||N/A|MGI:2681164|Plekha8|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 [Source:MGI Symbol;Acc:MGI:2681164]|Heterozygous||C|A|53|40.0|Non-synonymous|Line Propagating
5139734|IGL00927|9|109849268|L->Q|1.0|Probably damaging|MGI:108443|Camp|cathelicidin antimicrobial peptide [Source:MGI Symbol;Acc:MGI:108443]|Heterozygous|Mice homozygous for a knock-out allele are more susceptible to necrotic skin infection caused by Group A Streptococcus and urinary tract infection caused by uropathogenic E. coli.|A|T|47|39.0|Non-synonymous|Line Propagating
5139735|IGL00927|10|63273537|I->V||Benign|MGI:1914595|Herc4|hect domain and RLD 4 [Source:MGI Symbol;Acc:MGI:1914595]|Heterozygous|Mice homozygous for a gene-trapped allele display reduced male fertility associated with a high percentage of angulated sperm tails and impaired sperm motility.|A|G|41|41.0|Non-synonymous|Line Propagating
5139736|IGL00927|17|8255993|T->K|0.09|Benign|MGI:1333797|Ccr6|chemokine (C-C motif) receptor 6 [Source:MGI Symbol;Acc:MGI:1333797]|Heterozygous|Homozygous null mice have decreased inflammatory responses, aberrant trafficking of lymphocytes and dendritic cells, and decreased expression of many inflammatory mediators.|C|A|40|40.0|Non-synonymous|Line Propagating
5139737|IGL00927|10|63071955|V->A||Benign|MGI:1915621|Pbld1|phenazine biosynthesis-like protein domain containing 1 [Source:MGI Symbol;Acc:MGI:1915621]|Heterozygous||T|C|36|37.0|Non-synonymous|Line Propagating
5139738|IGL00927|18|76145850|S->P|0.98|Probably damaging|MGI:2443302|Zbtb7c|zinc finger and BTB domain containing 7C [Source:MGI Symbol;Acc:MGI:2443302]|Heterozygous||T|C|35|31.0|Non-synonymous|Line Propagating
5139739|IGL00927|18|36632072|S->G|0.03|Benign|MGI:1921733|Ankhd1|ankyrin repeat and KH domain containing 1 [Source:MGI Symbol;Acc:MGI:1921733]|Heterozygous||A|G|30|39.0|Non-synonymous|Line Propagating
5139740|IGL00927|2|153316461|A->T|0.35|Benign|MGI:107688|Kif3b|kinesin family member 3B [Source:MGI Symbol;Acc:MGI:107688]|Heterozygous|Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period.|G|A|30|39.0|Non-synonymous|Line Propagating
5139741|IGL00927|1|134145254|F->S|1.0|Probably damaging|MGI:1919134|Chit1|chitinase 1 (chitotriosidase) [Source:MGI Symbol;Acc:MGI:1919134]|Heterozygous||T|C|28|38.5|Non-synonymous|Line Propagating
5139742|IGL00927|1|131839176|L->H|1.0|Probably damaging|MGI:2444823|Slc41a1|solute carrier family 41, member 1 [Source:MGI Symbol;Acc:MGI:2444823]|Heterozygous||T|A|26|39.0|Non-synonymous|Line Propagating
5139743|IGL00927|17|50606920|S->L|0.8|Possibly damaging|MGI:1352756|Plcl2|phospholipase C-like 2 [Source:MGI Symbol;Acc:MGI:1352756]|Heterozygous|Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated.|C|T|24|40.0|Non-synonymous|Line Propagating
5139744|IGL00927|18|37514553|Y->C|1.0|Probably damaging|MGI:2136759|Pcdhb21|protocadherin beta 21 [Source:MGI Symbol;Acc:MGI:2136759]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
5139745|IGL00927|19|4139407|S->R|0.92|Possibly damaging|MGI:1920910|Cabp4|calcium binding protein 4 [Source:MGI Symbol;Acc:MGI:1920910]|Heterozygous|Mice with disruptions in this gene display structural and electrophysiological abnormalities in the retina.|A|T|22|40.5|Non-synonymous|Line Propagating
5139746|IGL00927|7|118140632|G->D|0.92|Possibly damaging|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||C|T|21|37.0|Non-synonymous|Line Propagating
5139747|IGL00927|11|59208848|T->A|1.0|Probably damaging|MGI:1915112|2310033p09rik|RIKEN cDNA 2310033P09 gene [Source:MGI Symbol;Acc:MGI:1915112]|Heterozygous||A|G|20|33.5|Non-synonymous|Line Propagating
5139748|IGL00927|10|79576599|S->P|0.92|Possibly damaging|MGI:1338756|Theg|testicular haploid expressed gene [Source:MGI Symbol;Acc:MGI:1338756]|Heterozygous|Males homozygotes for a transgenic insertional mutation are sterile due to a block in spermiogenesis. Testis weights are reduced, and mutants exhibit multiple abnormalities in elongated spermatids in the seminiferous tubule lumen.|A|G|19|37.0|Non-synonymous|Line Propagating
5139749|IGL00927|1|119471776|N->I|0.04|Benign|MGI:1927244|Ralb|v-ral simian leukemia viral oncogene homolog B (ras related) [Source:MGI Symbol;Acc:MGI:1927244]|Heterozygous||T|A|17|39.0|Non-synonymous|Line Propagating
5139750|IGL00927|18|23971777|T->A||Benign|MGI:2685600|Zscan30|zinc finger and SCAN domain containing 30 [Source:MGI Symbol;Acc:MGI:2685600]|Heterozygous||T|C|17|40.0|Non-synonymous|Line Propagating
5139751|IGL00927|15|98845009|S->L||Unknown|MGI:2682319|Mll2|myeloid/lymphoid or mixed-lineage leukemia 2 [Source:MGI Symbol;Acc:MGI:2682319]|Heterozygous||G|A|11|39.0|Non-synonymous|Line Propagating
5139752|IGL00927|19|4287954|N->S||Benign|MGI:87940|Adrbk1|adrenergic receptor kinase, beta 1 [Source:MGI Symbol;Acc:MGI:87940]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality likely due to heart failure. Homozygous mutant embryos are pale in appearance and exhibit ventricular hypoplasia.|T|C|11|41.0|Non-synonymous|Line Propagating
5139753|IGL00927|6|77244063|M->L||Benign|MGI:2389173, MGI:88275|Ctnna2,lrrtm1|leucine rich repeat transmembrane neuronal 1 [Source:MGI Symbol;Acc:MGI:2389173],catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with grossly normal brain morphology. Mice homozygous for another knock-out allele exhibit impaired cognitive function and altered hippocampal synapse morphology.,Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|A|T|11|37.0|Non-synonymous|Line Propagating
5139754|IGL00927|15|99337628|Disrupted splicing|||MGI:109569|Fmnl3|formin-like 3 [Source:MGI Symbol;Acc:MGI:109569]|Heterozygous||A|G|67|38.0|Splice|Line Propagating
5139755|IGL00927|4|107384780|Disrupted splicing|||MGI:1920037|Tmem48|transmembrane protein 48 [Source:MGI Symbol;Acc:MGI:1920037]|Heterozygous||C|T|59|40.0|Splice|Line Propagating
5139756|IGL00927|3|35920965|Disrupted splicing|||MGI:2150386|Dcun1d1|DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2150386]|Heterozygous||A|T|57|39.0|Splice|Line Propagating
5139757|IGL00927|9|15610671|Disrupted splicing|||MGI:2443026|Ccdc67|coiled-coil domain containing 67 [Source:MGI Symbol;Acc:MGI:2443026]|Heterozygous||A|G|47|40.0|Splice|Line Propagating
5139758|IGL00927|9|37427754|Disrupted splicing|||MGI:1343102|Robo3|roundabout homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1343102]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.|C|T|37|36.0|Splice|Line Propagating
5139759|IGL00927|7|30460739|Disrupted splicing|||MGI:1859637|Nphs1|nephrosis 1 homolog, nephrin (human) [Source:MGI Symbol;Acc:MGI:1859637]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.|A|G|31|37.0|Splice|Line Propagating
5139760|IGL00927|6|38382220|Disrupted splicing|||MGI:2444853|Ttc26|tetratricopeptide repeat domain 26 [Source:MGI Symbol;Acc:MGI:2444853]|Heterozygous||T|C|25|40.0|Splice|Line Propagating
5140946|IGL00929|18|15393599|G->E||Benign|MGI:107387|Aqp4|aquaporin 4 [Source:MGI Symbol;Acc:MGI:107387]|Heterozygous|Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, as well as significant hearing impairment.|C|T|110|37.0|Non-synonymous|Line Propagating
5140947|IGL00929|7|103212685|H->L|1.0|Probably damaging|MGI:3030427|Olfr593|olfactory receptor 593 [Source:MGI Symbol;Acc:MGI:3030427]|Heterozygous||A|T|101|40.0|Non-synonymous|Line Propagating
5140948|IGL00929|14|63543497|L->P|1.0|Probably damaging|MGI:2442842|Mtmr9|myotubularin related protein 9 [Source:MGI Symbol;Acc:MGI:2442842]|Heterozygous||A|G|96|37.0|Non-synonymous|Line Propagating
5140950|IGL00929|1|132256709|D->G|0.02|Benign|MGI:1922403|Lemd1|LEM domain containing 1 [Source:MGI Symbol;Acc:MGI:1922403]|Heterozygous||A|G|65|40.0|Non-synonymous|Line Propagating
5140951|IGL00929|6|83368655|L->P|1.0|Probably damaging|MGI:2446229|Tet3|tet oncogene family member 3 [Source:MGI Symbol;Acc:MGI:2446229]|Heterozygous||A|G|62|39.0|Non-synonymous|Line Propagating
5140952|IGL00929|5|138161386|M->V||Benign|MGI:1349439|Cops6|COP9 (constitutive photomorphogenic) homolog, subunit 6 (Arabidopsis thaliana) [Source:MGI Symbol;Acc:MGI:1349439]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit increased sensitivity to irradiation and decreased incidence of ionizing radiation-induced tumors.|A|G|58|37.5|Non-synonymous|Line Propagating
5140953|IGL00929|12|16573699|S->L|0.01|Benign|MGI:1891340|Lpin1|lipin 1 [Source:MGI Symbol;Acc:MGI:1891340]|Heterozygous||G|A|49|39.0|Non-synonymous|Line Propagating
5140954|IGL00929|9|115266165|I->N|1.0|Probably damaging|MGI:1915542|Stt3b|STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915542]|Heterozygous||A|T|39|39.0|Non-synonymous|Line Propagating
5140955|IGL00929|17|80408596|Y->C|1.0|Probably damaging|MGI:98354|Sos1|son of sevenless homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:98354]|Heterozygous|Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene.|T|C|38|37.0|Non-synonymous|Line Propagating
5140957|IGL00929|18|89028935|K->M|1.0|Probably damaging|MGI:2179288|Rttn|rotatin [Source:MGI Symbol;Acc:MGI:2179288]|Heterozygous|Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.|A|T|37|38.0|Non-synonymous|Line Propagating
5140958|IGL00929|17|78579401|S->P|0.71|Possibly damaging|MGI:1921449|Vit|vitrin [Source:MGI Symbol;Acc:MGI:1921449]|Heterozygous||T|C|33|40.0|Non-synonymous|Line Propagating
5140959|IGL00929|1|74490154|T->N||Benign|MGI:2442483|Usp37|ubiquitin specific peptidase 37 [Source:MGI Symbol;Acc:MGI:2442483]|Heterozygous||G|T|32|40.0|Non-synonymous|Line Propagating
5140960|IGL00929|18|37743705|Y->H|1.0|Probably damaging|MGI:1935228|Pcdhga11|protocadherin gamma subfamily A, 11 [Source:MGI Symbol;Acc:MGI:1935228]|Heterozygous||T|C|31|35.0|Non-synonymous|Line Propagating
5140961|IGL00929|2|35708877|M->L|0.01|Benign|MGI:1916851|Dab2ip|disabled homolog 2 (Drosophila) interacting protein [Source:MGI Symbol;Acc:MGI:1916851]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired IRE1-mediated endoplasmic reticulum (ER) stress-induced responses.|A|T|31|40.0|Non-synonymous|Line Propagating
5140962|IGL00929|11|77472752|S->P|0.99|Probably damaging|MGI:2144501|Ankrd13b|ankyrin repeat domain 13b [Source:MGI Symbol;Acc:MGI:2144501]|Heterozygous||A|G|30|37.0|Non-synonymous|Line Propagating
5140963|IGL00929|13|3649427|Y->C|0.99|Probably damaging|MGI:2145525|Asb13|ankyrin repeat and SOCS box-containing 13 [Source:MGI Symbol;Acc:MGI:2145525]|Heterozygous||A|G|30|40.0|Non-synonymous|Line Propagating
5140964|IGL00929|4|107389497|N->K|0.08|Benign|MGI:1920037|Tmem48|transmembrane protein 48 [Source:MGI Symbol;Acc:MGI:1920037]|Heterozygous||T|A|17|38.0|Non-synonymous|Line Propagating
5140965|IGL00929|16|89794739|I->F|1.0|Probably damaging|MGI:103306|Tiam1|T-cell lymphoma invasion and metastasis 1 [Source:MGI Symbol;Acc:MGI:103306]|Heterozygous|Homozygous disruption of this gene results in resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy.|T|A|14|40.0|Non-synonymous|Line Propagating
5140966|IGL00929|11|68954102|L->Q|1.0|Probably damaging|MGI:3045246|Arhgef15|Rho guanine nucleotide exchange factor (GEF) 15 [Source:MGI Symbol;Acc:MGI:3045246]|Heterozygous||A|T|12|40.0|Non-synonymous|Line Propagating
5140967|IGL00929|10|29148292|N->K|1.0|Probably damaging|MGI:1914662|6330407j23rik|RIKEN cDNA 6330407J23 gene [Source:MGI Symbol;Acc:MGI:1914662]|Heterozygous||C|A|10|40.0|Non-synonymous|Line Propagating
5140968|IGL00929|12|30904900|H->Q|0.36|Benign|MGI:87881|Acp1|acid phosphatase 1, soluble [Source:MGI Symbol;Acc:MGI:87881]|Heterozygous||A|T|10|36.0|Non-synonymous|Line Propagating
5140970|IGL00929|2|166051609|Disrupted splicing|||MGI:1276535|Ncoa3|nuclear receptor coactivator 3 [Source:MGI Symbol;Acc:MGI:1276535]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for a targeted allele affecting phosphorylation sites exhibit increased body weight, increased adiposity, hypoactivity, abnormal glucose homeostasis, and increased susceptibility to chemically induced tumors.|T|A|72|37.0|Splice|Line Propagating
5140971|IGL00929|1|116060274|Disrupted splicing|||MGI:3643623|Cntnap5a|contactin associated protein-like 5A [Source:MGI Symbol;Acc:MGI:3643623]|Heterozygous||G|A|50|40.0|Splice|Line Propagating
5140972|IGL00929|1|132118519|Disrupted splicing|||MGI:97518|Cdk18|cyclin-dependent kinase 18 [Source:MGI Symbol;Acc:MGI:97518]|Heterozygous||A|G|24|36.0|Splice|Line Propagating
5140973|IGL00929|11|103060076|Disrupted splicing|||MGI:102579|Nmt1|N-myristoyltransferase 1 [Source:MGI Symbol;Acc:MGI:102579]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality between E3.5 and E7.5. Heterozygotes show partial prenatal lethality.|A|T|16|39.5|Splice|Line Propagating
5140974|IGL00929|18|36744175|Disrupted splicing|||MGI:1343103|Ndufa2|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 [Source:MGI Symbol;Acc:MGI:1343103]|Heterozygous||A|G|14|35.0|Splice|Line Propagating
5141536|IGL00930|13|22382859|T->A|0.82|Possibly damaging|MGI:2159662|Vmn1r199|vomeronasal 1 receptor 199 [Source:MGI Symbol;Acc:MGI:2159662]|Heterozygous||A|G|190|39.0|Non-synonymous|Line Propagating
5141537|IGL00930|16|91682591|E->G|0.76|Possibly damaging|MGI:1890621|Donson|downstream neighbor of SON [Source:MGI Symbol;Acc:MGI:1890621]|Heterozygous||T|C|178|40.0|Non-synonymous|Line Propagating
5141539|IGL00930|10|74630698|E->K|0.44|Possibly damaging|MGI:1891428|Pcdh15|protocadherin 15 [Source:MGI Symbol;Acc:MGI:1891428]|Heterozygous|Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.|G|A|105|40.0|Non-synonymous|Line Propagating
5141540|IGL00930|7|49792009|Y->N|1.0|Probably damaging|MGI:1919224|Prmt3|protein arginine N-methyltransferase 3 [Source:MGI Symbol;Acc:MGI:1919224]|Heterozygous|Mice homozygous for a hypomorphic gene trap allele exhibit a reduced embryonic size but survive birth and attain a normal size in adulthood.|T|A|94|39.0|Non-synonymous|Line Propagating
5141541|IGL00930|19|12429645|H->L||Benign|MGI:1860266|Pfpl|pore forming protein-like [Source:MGI Symbol;Acc:MGI:1860266]|Heterozygous||A|T|87|40.0|Non-synonymous|Line Propagating
5141542|IGL00930|5|130102134|K->N|0.18|Benign|MGI:1298231|Tpst1|protein-tyrosine sulfotransferase 1 [Source:MGI Symbol;Acc:MGI:1298231]|Heterozygous|Homozygous null mice exhibit reduced body weight but develop normally. Homozygous females produce smaller sized litters than control females.|A|T|70|39.0|Non-synonymous|Line Propagating
5141543|IGL00930|14|67771077|N->K|1.0|Probably damaging|MGI:2652871|Dock5|dedicator of cytokinesis 5 [Source:MGI Symbol;Acc:MGI:2652871]|Heterozygous|Mutations at this locus result in lens abnormalities involving cataracts and rupturing of the lens nucleus.|G|T|65|40.0|Non-synonymous|Line Propagating
5141544|IGL00930|7|127879130|T->A|0.04|Benign|MGI:3665412|Zfp646|zinc finger protein 646 [Source:MGI Symbol;Acc:MGI:3665412]|Heterozygous||A|G|64|40.0|Non-synonymous|Line Propagating
5141545|IGL00930|7|119592310|S->P|0.03|Benign|MGI:2385289|Acsm2|acyl-CoA synthetase medium-chain family member 2 [Source:MGI Symbol;Acc:MGI:2385289]|Heterozygous||T|C|61|38.0|Non-synonymous|Line Propagating
5141546|IGL00930|18|6449196|M->L|0.1|Benign|MGI:1278322|Epc1|enhancer of polycomb homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1278322]|Heterozygous|Mice homozygous for a gene trap allele die prior to P10 (no time point given) and heterozygous mice exhibit impaired skeletal muscle differentiation.|T|A|55|40.0|Non-synonymous|Line Propagating
5141547|IGL00930|4|46396383|C->Stop||N/A|MGI:2136910|Hemgn|hemogen [Source:MGI Symbol;Acc:MGI:2136910]|Heterozygous||A|T|47|39.0|Non-synonymous|Line Propagating
5141548|IGL00930|9|19567175|S->P|1.0|Probably damaging|MGI:3030688|Olfr854|olfactory receptor 854 [Source:MGI Symbol;Acc:MGI:3030688]|Heterozygous||A|G|38|38.5|Non-synonymous|Line Propagating
5141549|IGL00930|4|8805181|K->E|0.97|Probably damaging|MGI:2444748|Chd7|chromodomain helicase DNA binding protein 7 [Source:MGI Symbol;Acc:MGI:2444748]|Heterozygous|Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink.|A|G|37|38.0|Non-synonymous|Line Propagating
5141550|IGL00930|6|85601310|S->P||Unknown|MGI:1934606|Alms1|Alstrom syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1934606]|Heterozygous|Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss.|T|C|35|40.0|Non-synonymous|Line Propagating
5141551|IGL00930|9|30902053|P->S|1.0|Probably damaging|MGI:2449569|Adamts15|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 15 [Source:MGI Symbol;Acc:MGI:2449569]|Heterozygous||G|A|22|40.0|Non-synonymous|Line Propagating
5141552|IGL00930|18|63740244|C->Stop||N/A|MGI:1860197|Wdr7|WD repeat domain 7 [Source:MGI Symbol;Acc:MGI:1860197]|Heterozygous||T|A|21|39.0|Non-synonymous|Line Propagating
5141553|IGL00930|17|28329007|Y->H|0.99|Probably damaging|MGI:1343877|Rpl10a|ribosomal protein L10A [Source:MGI Symbol;Acc:MGI:1343877]|Heterozygous||T|C|18|38.0|Non-synonymous|Line Propagating
5141554|IGL00930|1|173222533|Disrupted splicing|||MGI:95494|Fcer1a|Fc receptor, IgE, high affinity I, alpha polypeptide [Source:MGI Symbol;Acc:MGI:95494]|Heterozygous||A|G|95|40.0|Splice|Line Propagating
5141555|IGL00930|5|124121663|Disrupted splicing|||MGI:1336192|Pitpnm2|phosphatidylinositol transfer protein, membrane-associated 2 [Source:MGI Symbol;Acc:MGI:1336192]|Heterozygous|Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival.|A|G|53|39.0|Splice|Line Propagating
5141556|IGL00930|12|69226445|Disrupted splicing|||MGI:1197514|Pole2|polymerase (DNA directed), epsilon 2 (p59 subunit) [Source:MGI Symbol;Acc:MGI:1197514]|Heterozygous||A|G|40|39.0|Splice|Line Propagating
5142126|IGL00931|7|85749646|M->L||Benign|MGI:3647591|Vmn2r72-ps|vomeronasal 2, receptor 72, pseudogene [Source:MGI Symbol;Acc:MGI:3647591]|Heterozygous||T|A|179|41.0|Non-synonymous|Line Propagating
5142128|IGL00931|4|115301956|R->Q|0.98|Probably damaging|MGI:88612|Cyp4a12a|cytochrome P450, family 4, subfamily a, polypeptide 12a [Source:MGI Symbol;Acc:MGI:88612]|Heterozygous||G|A|96|39.5|Non-synonymous|Line Propagating
5142129|IGL00931|7|140968256|M->L|1.0|Probably damaging|MGI:1915963|Ifitm1|interferon induced transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:1915963]|Heterozygous||A|T|50|38.0|Non-synonymous|Line Propagating
5142130|IGL00931|19|10066285|D->E|0.05|Benign|MGI:1930079|Fads2|fatty acid desaturase 2 [Source:MGI Symbol;Acc:MGI:1930079]|Heterozygous|Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function.|A|T|49|39.0|Non-synonymous|Line Propagating
5142131|IGL00931|2|75675998|V->A|1.0|Probably damaging|MGI:108420|Nfe2l2|nuclear factor, erythroid derived 2, like 2 [Source:MGI Symbol;Acc:MGI:108420]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases.|A|G|47|40.0|Non-synonymous|Line Propagating
5142132|IGL00931|2|92458894|D->G||Benign|MGI:2443301|Slc35c1|solute carrier family 35, member C1 [Source:MGI Symbol;Acc:MGI:2443301]|Heterozygous|Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion. Mortality is increased on an inbred background.|T|C|37|37.0|Non-synonymous|Line Propagating
5142133|IGL00931|2|90902502|L->P|0.01|Benign|MGI:1915599|Ndufs3|NADH dehydrogenase (ubiquinone) Fe-S protein 3 [Source:MGI Symbol;Acc:MGI:1915599]|Heterozygous||A|G|23|40.0|Non-synonymous|Line Propagating
5142134|IGL00931|6|42597228|T->A|0.1|Benign|MGI:3042585|Fam115e|family with sequence similarity 115, member E [Source:MGI Symbol;Acc:MGI:3042585]|Heterozygous||T|C|21|39.0|Non-synonymous|Line Propagating
5142135|IGL00931|10|27006776|S->L||Benign|MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|G|A|20|41.0|Non-synonymous|Line Propagating
5142136|IGL00931|18|65172399|I->T|0.96|Probably damaging|MGI:1933754|Nedd4l|neural precursor cell expressed, developmentally down-regulated gene 4-like [Source:MGI Symbol;Acc:MGI:1933754]|Heterozygous|Mice homozygous for a null mutation display salt sensitive hypertension and high salt diet induced cardiac hypertrophy.|T|C|20|38.0|Non-synonymous|Line Propagating
5142137|IGL00931|2|155630292|D->G|0.86|Possibly damaging|MGI:3710243|Myh7b|myosin, heavy chain 7B, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:3710243]|Heterozygous||A|G|19|37.0|Non-synonymous|Line Propagating
5142138|IGL00931|2|102756112|W->R|1.0|Probably damaging|MGI:101931|Slc1a2|solute carrier family 1 (glial high affinity glutamate transporter), member 2 [Source:MGI Symbol;Acc:MGI:101931]|Heterozygous|Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration.|T|A|18|40.5|Non-synonymous|Line Propagating
5142139|IGL00931|2|132538118|F->L||Benign|MGI:104898|Gpcpd1|glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:104898]|Heterozygous||G|T|16|39.5|Non-synonymous|Line Propagating
5142140|IGL00931|6|52217306|N->D|0.02|Benign|MGI:96179|Hoxa7|homeobox A7 [Source:MGI Symbol;Acc:MGI:96179]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no apparent skeletal defects.|T|C|13|35.0|Non-synonymous|Line Propagating
5142141|IGL00931|3|145461470|M->V|0.01|Benign|MGI:1918605|Col24a1|collagen, type XXIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1918605]|Heterozygous||A|G|11|37.0|Non-synonymous|Line Propagating
5142142|IGL00931|8|61969583|S->L|0.12|Benign|MGI:2384570|Ddx60|DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 [Source:MGI Symbol;Acc:MGI:2384570]|Heterozygous||C|T|11|41.0|Non-synonymous|Line Propagating
5142143|IGL00931|9|71215969|Disrupted splicing|||MGI:107928|Aldh1a2|aldehyde dehydrogenase family 1, subfamily A2 [Source:MGI Symbol;Acc:MGI:107928]|Heterozygous|Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.|G|A|43|35.0|Splice|Line Propagating
5142144|IGL00931|16|48935497|Disrupted splicing|||MGI:1917433|Dzip3|DAZ interacting protein 3, zinc finger [Source:MGI Symbol;Acc:MGI:1917433]|Heterozygous||A|T|39|39.0|Splice|Line Propagating
5142145|IGL00931|2|153686250|Disrupted splicing|||MGI:1261819|Dnmt3b|DNA methyltransferase 3B [Source:MGI Symbol;Acc:MGI:1261819]|Heterozygous|Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.|T|A|24|39.5|Splice|Line Propagating
5143286|IGL00933|2|155415397|V->A|0.94|Possibly damaging|MGI:1929915|Ncoa6|nuclear receptor coactivator 6 [Source:MGI Symbol;Acc:MGI:1929915]|Heterozygous|Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation.|A|G|149|40.0|Non-synonymous|Line Propagating
5143287|IGL00933|9|62769305|I->T|0.72|Possibly damaging|MGI:2442114|Itga11|integrin alpha 11 [Source:MGI Symbol;Acc:MGI:2442114]|Heterozygous|Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.|T|C|107|37.0|Non-synonymous|Line Propagating
5143288|IGL00933|19|5717933|I->T|0.2|Benign|MGI:3612340|Ehbp1l1|EH domain binding protein 1-like 1 [Source:MGI Symbol;Acc:MGI:3612340]|Heterozygous||A|G|84|39.5|Non-synonymous|Line Propagating
5143290|IGL00933|11|53186761|G->R|0.83|Possibly damaging|MGI:2443199|Fstl4|follistatin-like 4 [Source:MGI Symbol;Acc:MGI:2443199]|Heterozygous|Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure.|G|A|76|37.0|Non-synonymous|Line Propagating
5143291|IGL00933|10|130180214|M->K|0.02|Benign|MGI:3030660|Olfr826|olfactory receptor 826 [Source:MGI Symbol;Acc:MGI:3030660]|Heterozygous||A|T|67|40.0|Non-synonymous|Line Propagating
5143292|IGL00933|2|153477936|F->S|0.96|Probably damaging|MGI:1918765|8430427h17rik|RIKEN cDNA 8430427H17 gene [Source:MGI Symbol;Acc:MGI:1918765]|Heterozygous||A|G|63|35.0|Non-synonymous|Line Propagating
5143293|IGL00933|1|10337370|H->R|0.01|Benign|MGI:3045348|Cpa6|carboxypeptidase A6 [Source:MGI Symbol;Acc:MGI:3045348]|Heterozygous||T|C|53|39.0|Non-synonymous|Line Propagating
5143294|IGL00933|1|162794023|Q->K|0.01|Benign|MGI:2429497|Fmo4|flavin containing monooxygenase 4 [Source:MGI Symbol;Acc:MGI:2429497]|Heterozygous||G|T|45|39.0|Non-synonymous|Line Propagating
5143295|IGL00933|12|4707540|F->C|1.0|Probably damaging|MGI:1338049|Itsn2|intersectin 2 [Source:MGI Symbol;Acc:MGI:1338049]|Heterozygous||T|G|43|41.0|Non-synonymous|Line Propagating
5143296|IGL00933|7|28360689|P->S||Benign|MGI:2141874|Plekhg2|pleckstrin homology domain containing, family G (with RhoGef domain) member 2 [Source:MGI Symbol;Acc:MGI:2141874]|Heterozygous||G|A|40|40.0|Non-synonymous|Line Propagating
5143297|IGL00933|5|150542404|S->G|0.08|Benign|MGI:109337|Brca2|breast cancer 2 [Source:MGI Symbol;Acc:MGI:109337]|Heterozygous|Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas.|A|G|35|40.0|Non-synonymous|Line Propagating
5143298|IGL00933|19|8936398|W->Stop||N/A|MGI:2387612|Eml3|echinoderm microtubule associated protein like 3 [Source:MGI Symbol;Acc:MGI:2387612]|Heterozygous||G|A|34|39.0|Non-synonymous|Line Propagating
5143299|IGL00933|3|104015847|Y->H||Benign|MGI:1923484|Magi3|membrane associated guanylate kinase, WW and PDZ domain containing 3 [Source:MGI Symbol;Acc:MGI:1923484]|Heterozygous||A|G|34|39.0|Non-synonymous|Line Propagating
5143300|IGL00933|9|99101286|T->S|1.0|Probably damaging|MGI:1922019|Pik3cb|phosphatidylinositol 3-kinase, catalytic, beta polypeptide [Source:MGI Symbol;Acc:MGI:1922019]|Heterozygous|Mice homozygous for a knock-out allele exhibit 30% fetal lethality, decreased size at birth and postnatally, abnormal glucose homeostasis, and dyslipidemia. Mice homozygous for a different knock-out allele die prior to E8.5|T|A|32|39.0|Non-synonymous|Line Propagating
5143301|IGL00933|14|37038918|Y->Stop||N/A|MGI:1929473|Rgr|retinal G protein coupled receptor [Source:MGI Symbol;Acc:MGI:1929473]|Heterozygous|Homozygotes for a targeted null mutation, following 8 hours of light, exhibit reductions in both total retinal (mostly 11-cis-retinal) and rhodopsin levels, and over-accumulate all-trans-retinal indicating an impaired visual cycle.|A|T|28|39.0|Non-synonymous|Line Propagating
5143302|IGL00933|9|20348808|S->P||Benign|MGI:1915280|Zfp560|zinc finger protein 560 [Source:MGI Symbol;Acc:MGI:1915280]|Heterozygous||A|G|28|37.5|Non-synonymous|Line Propagating
5143303|IGL00933|13|102735366|D->G|0.06|Benign|MGI:1918885|Mast4|microtubule associated serine/threonine kinase family member 4 [Source:MGI Symbol;Acc:MGI:1918885]|Heterozygous||T|C|27|35.0|Non-synonymous|Line Propagating
5143304|IGL00933|3|88482549|C->S|0.24|Benign|MGI:96794|Lmna|lamin A [Source:MGI Symbol;Acc:MGI:96794]|Heterozygous|Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, and hyperkeratosis, and die by 8 weeks of age.|A|T|26|34.5|Non-synonymous|Line Propagating
5143305|IGL00933|16|14117357|Y->H|0.25|Benign|MGI:2444505|4921513d23rik|RIKEN cDNA 4921513D23 gene [Source:MGI Symbol;Acc:MGI:2444505]|Heterozygous||A|G|12|40.0|Non-synonymous|Line Propagating
5143307|IGL00933|13|80891055|Disrupted splicing|||MGI:2145242|Arrdc3|arrestin domain containing 3 [Source:MGI Symbol;Acc:MGI:2145242]|Heterozygous||T|A|114|39.0|Splice|Line Propagating
5143308|IGL00933|4|63364152|Disrupted splicing|||MGI:97444|Orm2|orosomucoid 2 [Source:MGI Symbol;Acc:MGI:97444]|Heterozygous||T|C|108|40.0|Splice|Line Propagating
5143309|IGL00933|6|28512986|Disrupted splicing|||MGI:1929266|Snd1|staphylococcal nuclease and tudor domain containing 1 [Source:MGI Symbol;Acc:MGI:1929266]|Heterozygous||T|C|33|39.0|Splice|Line Propagating
5146779|IGL00939|1|160147530|L->P|1.0|Probably damaging|MGI:2665790|Tnn|tenascin N [Source:MGI Symbol;Acc:MGI:2665790]|Heterozygous||A|G|114|40.0|Non-synonymous|Line Propagating
5146780|IGL00939|4|155956447|E->G|0.01|Benign|MGI:2153608|Ube2j2|ubiquitin-conjugating enzyme E2, J2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2153608]|Heterozygous||A|G|112|40.0|Non-synonymous|Line Propagating
5146781|IGL00939|17|19794965|T->A||Benign|MGI:3644032|Vmn2r103|vomeronasal 2, receptor 103 [Source:MGI Symbol;Acc:MGI:3644032]|Heterozygous||A|G|105|40.0|Non-synonymous|Line Propagating
5146782|IGL00939|16|4939435|F->L|0.3|Benign|MGI:1914161|Nudt16l1|nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 [Source:MGI Symbol;Acc:MGI:1914161]|Heterozygous||T|C|75|35.0|Non-synonymous|Line Propagating
5146783|IGL00939|16|48452589|C->Y|0.99|Probably damaging|MGI:1316740|Morc1|microrchidia 1 [Source:MGI Symbol;Acc:MGI:1316740]|Heterozygous|Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile.|G|A|73|40.0|Non-synonymous|Line Propagating
5146784|IGL00939|2|76710081|Q->R||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|58|39.0|Non-synonymous|Line Propagating
5146785|IGL00939|3|89035236|V->A|0.53|Possibly damaging|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|C|58|37.0|Non-synonymous|Line Propagating
5146786|IGL00939|4|129071789|R->G|1.0|Probably damaging|MGI:1922484|Rnf19b|ring finger protein 19B [Source:MGI Symbol;Acc:MGI:1922484]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells.|A|G|56|40.0|Non-synonymous|Line Propagating
5146787|IGL00939|4|100441226|I->V||Benign|MGI:1347520|Ror1|receptor tyrosine kinase-like orphan receptor 1 [Source:MGI Symbol;Acc:MGI:1347520]|Heterozygous|Mice homozygous for disruptions in this gene die within the first day after birth from respiratory defects.|A|G|35|40.0|Non-synonymous|Line Propagating
5146788|IGL00939|9|100985869|S->P|1.0|Probably damaging|MGI:1914154|Pccb|propionyl Coenzyme A carboxylase, beta polypeptide [Source:MGI Symbol;Acc:MGI:1914154]|Heterozygous||A|G|35|40.0|Non-synonymous|Line Propagating
5146790|IGL00939|15|84938420|L->Stop||N/A|MGI:1351502|Nup50|nucleoporin 50 [Source:MGI Symbol;Acc:MGI:1351502]|Heterozygous|Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation.|T|G|32|38.5|Non-synonymous|Line Propagating
5146791|IGL00939|5|93043842|D->E|0.62|Possibly damaging|MGI:1925338|Ankrd56|ankyrin repeat domain 56 [Source:MGI Symbol;Acc:MGI:1925338]|Heterozygous||A|T|32|37.0|Non-synonymous|Line Propagating
5146792|IGL00939|7|4936281|T->I|0.55|Possibly damaging|MGI:3606211|A430110n23rik|RIKEN cDNA A430110N23 gene [Source:MGI Symbol;Acc:MGI:3606211]|Heterozygous||C|T|30|39.0|Non-synonymous|Line Propagating
5146794|IGL00939|16|93774083|S->T|0.04|Benign|MGI:1917278|Dopey2|dopey family member 2 [Source:MGI Symbol;Acc:MGI:1917278]|Heterozygous||T|A|27|38.0|Non-synonymous|Line Propagating
5146795|IGL00939|18|61575450|D->G|1.0|Probably damaging|MGI:1934950|Csnk1a1|casein kinase 1, alpha 1 [Source:MGI Symbol;Acc:MGI:1934950]|Heterozygous||A|G|25|40.0|Non-synonymous|Line Propagating
5146796|IGL00939|12|31302927|S->P|1.0|Probably damaging|MGI:96743|Lamb1|laminin B1 [Source:MGI Symbol;Acc:MGI:96743]|Heterozygous|Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. The mutant embryonic region shows no signs of cavitation, the mural trophectoderm and parietal endoderm appear disorganized, and trophoblast invasion is greatly reduced.|T|C|19|39.0|Non-synonymous|Line Propagating
5146797|IGL00939|5|38535323|T->A|0.14|Benign|MGI:1337100|Wdr1|WD repeat domain 1 [Source:MGI Symbol;Acc:MGI:1337100]|Heterozygous||T|C|16|40.5|Non-synonymous|Line Propagating
5146798|IGL00939|9|58843927|I->V|0.21|Benign|MGI:1298209|Hcn4|hyperpolarization-activated, cyclic nucleotide-gated K+ 4 [Source:MGI Symbol;Acc:MGI:1298209]|Heterozygous|Mice homozygous for disruptions in this gene experience embryonic lethality. Death occurs between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death.|A|G|14|39.5|Non-synonymous|Line Propagating
5146801|IGL00939|8|125464435|Disrupted splicing|||MGI:2676970|Sipa1l2|signal-induced proliferation-associated 1 like 2 [Source:MGI Symbol;Acc:MGI:2676970]|Heterozygous||A|G|38|39.0|Splice|Line Propagating
5146802|IGL00939|5|35824015|Disrupted splicing|||MGI:2385758|Ablim2|actin-binding LIM protein 2 [Source:MGI Symbol;Acc:MGI:2385758]|Heterozygous||C|A|10|36.0|Splice|Line Propagating
5147373|IGL00940|6|121022410|T->A|0.06|Benign|MGI:2442733|Mical3|microtubule associated monoxygenase, calponin and LIM domain containing 3 [Source:MGI Symbol;Acc:MGI:2442733]|Heterozygous||T|C|185|39.0|Non-synonymous|Line Propagating
5147374|IGL00940|3|98806624|F->I|1.0|Probably damaging|MGI:109598|Hsd3b6|hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 [Source:MGI Symbol;Acc:MGI:109598]|Heterozygous||A|T|163|40.0|Non-synonymous|Line Propagating
5147375|IGL00940|2|86657726|H->P|1.0|Probably damaging|MGI:3030919|Olfr1085|olfactory receptor 1085 [Source:MGI Symbol;Acc:MGI:3030919]|Heterozygous||T|G|143|40.0|Non-synonymous|Line Propagating
5147376|IGL00940|10|80255121|V->E|0.91|Possibly damaging|MGI:1922656|Ndufs7|NADH dehydrogenase (ubiquinone) Fe-S protein 7 [Source:MGI Symbol;Acc:MGI:1922656]|Heterozygous||T|A|112|39.0|Non-synonymous|Line Propagating
5147377|IGL00940|X|161837230|N->I|1.0|Probably damaging|MGI:2684894|Nhs|Nance-Horan syndrome (human) [Source:MGI Symbol;Acc:MGI:2684894]|Heterozygous||T|A|92|39.0|Non-synonymous|Line Propagating
5147378|IGL00940|4|143397556|L->H|1.0|Probably damaging|MGI:1890541|Pramel1|preferentially expressed antigen in melanoma-like 1 [Source:MGI Symbol;Acc:MGI:1890541]|Heterozygous||T|A|78|39.0|Non-synonymous|Line Propagating
5147379|IGL00940|6|70913388|R->L||Benign|MGI:1921471|1700011f03rik|RIKEN cDNA 1700011F03 gene [Source:MGI Symbol;Acc:MGI:1921471]|Heterozygous||C|A|74|38.5|Non-synonymous|Line Propagating
5147380|IGL00940|2|101642388|E->G|0.88|Possibly damaging|MGI:97848|Rag1|recombination activating gene 1 [Source:MGI Symbol;Acc:MGI:97848]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination.|T|C|54|40.0|Non-synonymous|Line Propagating
5147382|IGL00940|1|182974196|V->A|0.75|Possibly damaging|MGI:1858171|Tlr5|toll-like receptor 5 [Source:MGI Symbol;Acc:MGI:1858171]|Heterozygous|Mice homozygous for disruption of this gene have a generally normal phenotype. However they fail to respond immunologically to purified flagellin and are resistant to infection with Salmonella typhimurium.|T|C|35|39.0|Non-synonymous|Line Propagating
5147383|IGL00940|12|111787498|T->A|0.41|Benign|MGI:108390|Klc1|kinesin light chain 1 [Source:MGI Symbol;Acc:MGI:107978]|Heterozygous|Mice homozygous for disruptions in this gene are significantly smaller than normal.|A|G|34|39.5|Non-synonymous|Line Propagating
5147384|IGL00940|7|102742262|V->A|1.0|Probably damaging|MGI:2157548|Olfr78|olfactory receptor 78 [Source:MGI Symbol;Acc:MGI:2157548]|Heterozygous||A|G|34|38.0|Non-synonymous|Line Propagating
5147385|IGL00940|1|188357961|R->Stop||N/A|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) homolog (human) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|A|T|31|41.0|Non-synonymous|Line Propagating
5147386|IGL00940|4|148146110|F->L|0.99|Probably damaging|MGI:1354743|Fbxo6|F-box protein 6 [Source:MGI Symbol;Acc:MGI:1354743]|Heterozygous||A|G|29|36.0|Non-synonymous|Line Propagating
5147387|IGL00940|12|79280900|S->P||Benign|MGI:1924767|Zfyve26|zinc finger, FYVE domain containing 26 [Source:MGI Symbol;Acc:MGI:1924767]|Heterozygous||A|G|22|38.0|Non-synonymous|Line Propagating
5147389|IGL00940|12|69215360|T->I|0.61|Possibly damaging|MGI:1197514|Pole2|polymerase (DNA directed), epsilon 2 (p59 subunit) [Source:MGI Symbol;Acc:MGI:1197514]|Heterozygous||G|A|19|40.0|Non-synonymous|Line Propagating
5147390|IGL00940|X|141722144|F->I|0.98|Probably damaging|MGI:1338009|Irs4|insulin receptor substrate 4 [Source:MGI Symbol;Acc:MGI:1338009]|Heterozygous|Homozygotes for a targeted null mutation exhibit a 10% reduction in male adult size, slightly impaired oral glucose tolerance, and decreased reproductive ability.|A|T|19|39.0|Non-synonymous|Line Propagating
5147391|IGL00940|17|28057354|N->D|0.92|Possibly damaging|MGI:2446180|Anks1|ankyrin repeat and SAM domain containing 1 [Source:MGI Symbol;Acc:MGI:2446180]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
5147392|IGL00940|4|117307675|K->R||Benign|MGI:1913993|Rnf220|ring finger protein 220 [Source:MGI Symbol;Acc:MGI:1913993]|Heterozygous||T|C|12|38.0|Non-synonymous|Line Propagating
5147394|IGL00940|13|61356909|Disrupted splicing|||MGI:1860262|Cts7|cathepsin 7 [Source:MGI Symbol;Acc:MGI:1860262]|Heterozygous||A|G|108|39.0|Splice|Line Propagating
5147395|IGL00940|6|28745175|Disrupted splicing|||MGI:1929266|Snd1|staphylococcal nuclease and tudor domain containing 1 [Source:MGI Symbol;Acc:MGI:1929266]|Heterozygous||T|C|73|40.0|Splice|Line Propagating
5147396|IGL00940|9|106911377|Disrupted splicing|||MGI:2429763|Dock3|dedicator of cyto-kinesis 3 [Source:MGI Symbol;Acc:MGI:2429763]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy.|T|A|57|41.0|Splice|Line Propagating
5147398|IGL00940|7|125569175|Disrupted splicing|||MGI:105367|Il4ra|interleukin 4 receptor, alpha [Source:MGI Symbol;Acc:MGI:105367]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and altered susceptibility to infection.|G|A|33|39.0|Splice|Line Propagating
5147399|IGL00940|9|107558311|Disrupted splicing|||MGI:1928386|Rassf1|Ras association (RalGDS/AF-6) domain family member 1 [Source:MGI Symbol;Acc:MGI:1928386]|Heterozygous|Homozygous and heterozygous null mice display increased tumor incidence, especially of lung adenomas and lymphomas, and increased sensitivity to chemically induced tumors.|G|T|16|41.0|Splice|Line Propagating
5148570|IGL00942|6|141946628|T->I|0.01|Benign|MGI:1351891|Slco1a1|solute carrier organic anion transporter family, member 1a1 [Source:MGI Symbol;Acc:MGI:1351891]|Heterozygous||G|A|182|41.0|Non-synonymous|Line Propagating
5148571|IGL00942|9|19846259|Y->C|1.0|Probably damaging|MGI:3030694|Olfr860|olfactory receptor 860 [Source:MGI Symbol;Acc:MGI:3030694]|Heterozygous||T|C|145|39.0|Non-synonymous|Line Propagating
5148572|IGL00942|17|57769598|V->A|0.01|Benign|MGI:3646013|Cntnap5c|contactin associated protein-like 5C [Source:MGI Symbol;Acc:MGI:3646013]|Heterozygous||T|C|118|39.0|Non-synonymous|Line Propagating
5148573|IGL00942|9|42982000|R->H|1.0|Probably damaging|MGI:1916882|Arhgef12|Rho guanine nucleotide exchange factor (GEF) 12 [Source:MGI Symbol;Acc:MGI:1916882]|Heterozygous|Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension.|C|T|87|41.0|Non-synonymous|Line Propagating
5148574|IGL00942|4|32019539|D->G|1.0|Probably damaging|MGI:1346877|Map3k7|mitogen-activated protein kinase kinase kinase 7 [Source:MGI Symbol;Acc:MGI:1346877]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis and may have impaired vascular remodeling, edema, or an open, wavy neural tube. Mice with conditional deletion in immune cells show impaired cell development and activation.|A|G|84|39.0|Non-synonymous|Line Propagating
5148575|IGL00942|7|109054412|E->D|0.99|Probably damaging|MGI:2443887|Ric3|resistance to inhibitors of cholinesterase 3 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2443887]|Heterozygous||T|G|53|40.0|Non-synonymous|Line Propagating
5148576|IGL00942|7|109054413|E->V|1.0|Probably damaging|MGI:2443887|Ric3|resistance to inhibitors of cholinesterase 3 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2443887]|Heterozygous||T|A|53|39.0|Non-synonymous|Line Propagating
5148577|IGL00942|17|43664089|I->V||Benign|MGI:1921261|Slc25a27|solute carrier family 25, member 27 [Source:MGI Symbol;Acc:MGI:1921261]|Heterozygous||T|C|44|40.0|Non-synonymous|Line Propagating
5148578|IGL00942|10|116113436|S->P|0.02|Benign|MGI:3588269, MGI:109559|4933416c03rik,ptprr|RIKEN cDNA 4933416C03 gene [Source:MGI Symbol;Acc:MGI:3588269],protein tyrosine phosphatase, receptor type, R [Source:MGI Symbol;Acc:MGI:109559]|Heterozygous|NO_PHENOTYPE,Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.|A|G|42|37.5|Non-synonymous|Line Propagating
5148580|IGL00942|7|64389755|S->P|0.77|Possibly damaging|MGI:1915223|Mphosph10|M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) [Source:MGI Symbol;Acc:MGI:1915223]|Heterozygous||A|G|41|39.0|Non-synonymous|Line Propagating
5148581|IGL00942|17|23859160|C->Stop||N/A|MGI:1917064|Prss32|protease, serine, 32 [Source:MGI Symbol;Acc:MGI:1917064]|Heterozygous||T|A|39|39.0|Non-synonymous|Line Propagating
5148582|IGL00942|10|3554070|C->Y|1.0|Probably damaging|MGI:1917587|Iyd|iodotyrosine deiodinase [Source:MGI Symbol;Acc:MGI:1917587]|Heterozygous||C|T|37|39.0|Non-synonymous|Line Propagating
5148583|IGL00942|7|45516268|V->I|0.88|Possibly damaging|MGI:1861600|Tulp2|tubby-like protein 2 [Source:MGI Symbol;Acc:MGI:1861600]|Heterozygous||G|A|37|41.0|Non-synonymous|Line Propagating
5148584|IGL00942|9|72892340|S->P|0.2|Benign|MGI:2444710|Prtg|protogenin homolog (Gallus gallus) [Source:MGI Symbol;Acc:MGI:2444710]|Heterozygous||T|C|36|40.0|Non-synonymous|Line Propagating
5148585|IGL00942|13|77043947|F->I|0.83|Possibly damaging|MGI:2145448|Ankrd32|ankyrin repeat domain 32 [Source:MGI Symbol;Acc:MGI:2145448]|Heterozygous|Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes do not show any major cell cycle defects.|A|T|35|39.0|Non-synonymous|Line Propagating
5148586|IGL00942|17|25826621|N->K|0.03|Benign|MGI:2446285|Wdr24|WD repeat domain 24 [Source:MGI Symbol;Acc:MGI:2446285]|Heterozygous||T|A|34|37.0|Non-synonymous|Line Propagating
5148587|IGL00942|2|91170578|V->A|1.0|Probably damaging|MGI:2444672|Madd|MAP-kinase activating death domain [Source:MGI Symbol;Acc:MGI:2444672]|Heterozygous||A|G|34|39.5|Non-synonymous|Line Propagating
5148589|IGL00942|1|84922871|T->I|0.95|Possibly damaging|MGI:1919031|Slc16a14|solute carrier family 16 (monocarboxylic acid transporters), member 14 [Source:MGI Symbol;Acc:MGI:1919031]|Heterozygous||G|A|33|39.0|Non-synonymous|Line Propagating
5148590|IGL00942|4|49770589|F->L|0.99|Probably damaging|MGI:1933206|Grin3a|glutamate receptor ionotropic, NMDA3A [Source:MGI Symbol;Acc:MGI:1933206]|Heterozygous|Mice homozygous for a disruption in this gene display increased current densities in some cerebrocortical neurons of the brain, increased levels of prepulse inhibition, and altered dendritic spine morphology. Otherwise, they display a normal phenotype.|A|G|32|39.5|Non-synonymous|Line Propagating
5148591|IGL00942|11|29538753|E->K|1.0|Probably damaging|MGI:1924034|Mtif2|mitochondrial translational initiation factor 2 [Source:MGI Symbol;Acc:MGI:1924034]|Heterozygous||G|A|31|40.0|Non-synonymous|Line Propagating
5148592|IGL00942|15|83582448|V->G|0.12|Benign|MGI:3039573|Ttll12|tubulin tyrosine ligase-like family, member 12 [Source:MGI Symbol;Acc:MGI:3039573]|Heterozygous||A|C|30|37.0|Non-synonymous|Line Propagating
5148593|IGL00942|7|84943553|Q->P|0.98|Probably damaging|MGI:3642776|Vmn2r65|vomeronasal 2, receptor 65 [Source:MGI Symbol;Acc:MGI:3642776]|Heterozygous||T|G|25|40.0|Non-synonymous|Line Propagating
5148594|IGL00942|5|62698389|L->Stop||N/A|MGI:2684416|Arap2|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:2684416]|Heterozygous||A|C|24|41.0|Non-synonymous|Line Propagating
5148595|IGL00942|2|166885853|V->M|1.0|Probably damaging|MGI:2139354|Arfgef2|ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2139354]|Heterozygous||G|A|23|40.0|Non-synonymous|Line Propagating
5148596|IGL00942|11|107704369|F->L||Benign|MGI:1206582|Cacng1|calcium channel, voltage-dependent, gamma subunit 1 [Source:MGI Symbol;Acc:MGI:1206582]|Heterozygous|Mice homozygous for null mutations display abnormal muscle calcium currents.|A|T|21|36.0|Non-synonymous|Line Propagating
5148597|IGL00942|2|102739814|N->Y|0.86|Possibly damaging|MGI:101931|Slc1a2|solute carrier family 1 (glial high affinity glutamate transporter), member 2 [Source:MGI Symbol;Acc:MGI:101931]|Heterozygous|Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration.|A|T|19|39.0|Non-synonymous|Line Propagating
5148598|IGL00942|10|81258294|D->G||Benign|MGI:99259|Matk|megakaryocyte-associated tyrosine kinase [Source:MGI Symbol;Acc:MGI:99259]|Heterozygous|Homozygous mice are viable and fertile and appear normal. Unchallenged mutant mice exhibit no hematopoietic defects. SPKLS cell numbers are elevated. IL-7 induced BM cell proliferation and pre-B cell colony formation are enhanced. Antigen induced IFN-gamma secretion is reduced.|A|G|17|35.0|Non-synonymous|Line Propagating
5148599|IGL00942|4|135468593|L->Q|0.4|Benign|MGI:1921802|Nipal3|NIPA-like domain containing 3 [Source:MGI Symbol;Acc:MGI:1921802]|Heterozygous|Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities.|A|T|16|39.0|Non-synonymous|Line Propagating
5148600|IGL00942|19|42323794|D->A|1.0|Probably damaging|MGI:1920082|Crtac1|cartilage acidic protein 1 [Source:MGI Symbol;Acc:MGI:1920082]|Heterozygous||T|G|15|37.0|Non-synonymous|Line Propagating
5148601|IGL00942|15|47847106|Disrupted splicing|||MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||C|T|62|41.0|Splice|Line Propagating
5148602|IGL00942|13|23761938|Disrupted splicing|||MGI:2668828|Hist1h3a|histone cluster 1, H3a [Source:MGI Symbol;Acc:MGI:2668828]|Heterozygous||T|C|26|38.0|Splice|Line Propagating
5148603|IGL00942|17|24724184|Disrupted splicing|||MGI:1915592|Ndufb10|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 [Source:MGI Symbol;Acc:MGI:1915592]|Heterozygous||T|C|19|35.0|Splice|Line Propagating
5148604|IGL00942|13|14340740|Disrupted splicing|||MGI:2444115|Hecw1|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:2444115]|Heterozygous||C|T|14|39.5|Splice|Line Propagating
5149803|IGL00944|17|19678892|I->V|0.99|Probably damaging|MGI:3647786|Vmn2r102|vomeronasal 2, receptor 102 [Source:MGI Symbol;Acc:MGI:3647786]|Heterozygous||A|G|218|40.0|Non-synonymous|Line Propagating
5149804|IGL00944|19|12901355|Y->N|0.12|Benign|MGI:3031281|Olfr1447|olfactory receptor 1447 [Source:MGI Symbol;Acc:MGI:3031281]|Heterozygous||A|T|120|39.0|Non-synonymous|Line Propagating
5149805|IGL00944|16|17642757|I->T||Benign|MGI:1924876|Smpd4|sphingomyelin phosphodiesterase 4 [Source:MGI Symbol;Acc:MGI:1924876]|Heterozygous||T|C|67|40.0|Non-synonymous|Line Propagating
5149806|IGL00944|16|73933697|H->L|1.0|Probably damaging|MGI:1890110|Robo2|roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]|Heterozygous|Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.|T|A|67|38.0|Non-synonymous|Line Propagating
5149807|IGL00944|16|18825031|V->A|1.0|Probably damaging|MGI:109353|Ufd1l|ubiquitin fusion degradation 1 like [Source:MGI Symbol;Acc:MGI:109353]|Heterozygous|Mice heterozygous for a knock-out allele are viable with no obvious heart defects.|T|C|64|40.0|Non-synonymous|Line Propagating
5149808|IGL00944|17|35194666|Q->K|0.27|Benign|MGI:104796|Ltb|lymphotoxin B [Source:MGI Symbol;Acc:MGI:104796]|Heterozygous|Homozygotes for targeted null mutations lack peripheral lymph nodes, Peyer's patches, splenic germinal centers and follicular dendritic cells. Mutants exhibit lymphocytosis in the circulation and peritoneal cavity with infiltrations of the lung and liver.|C|A|64|37.0|Non-synonymous|Line Propagating
5149809|IGL00944|9|21846634|D->G|0.4|Benign|MGI:1914789|Dock6|dedicator of cytokinesis 6 [Source:MGI Symbol;Acc:MGI:1914789]|Heterozygous||T|C|57|37.0|Non-synonymous|Line Propagating
5149810|IGL00944|16|17035458|D->E||Benign|MGI:1346858|Mapk1|mitogen-activated protein kinase 1 [Source:MGI Symbol;Acc:MGI:1346858]|Heterozygous|Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues.|T|A|53|40.0|Non-synonymous|Line Propagating
5149811|IGL00944|5|106902130|V->E|0.2|Benign|MGI:3036246|Hfm1|HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3036246]|Heterozygous||A|T|52|39.0|Non-synonymous|Line Propagating
5149812|IGL00944|1|134483753|N->S||Benign|MGI:2385619|Klhl12|kelch-like 12 (Drosophila) [Source:MGI Symbol;Acc:MGI:2385619]|Heterozygous||A|G|44|39.0|Non-synonymous|Line Propagating
5149813|IGL00944|7|24125596|Q->K|0.06|Benign|MGI:1929115|Zfp112|zinc finger protein 112 [Source:MGI Symbol;Acc:MGI:1929115]|Heterozygous||C|A|42|37.5|Non-synonymous|Line Propagating
5149814|IGL00944|2|27113585|L->P|1.0|Probably damaging|MGI:1926106|Fam163b|family with sequence similarity 163, member B [Source:MGI Symbol;Acc:MGI:1926106]|Heterozygous||A|G|41|39.0|Non-synonymous|Line Propagating
5149815|IGL00944|4|132328506|V->L|0.85|Possibly damaging|MGI:1919037|Trnau1ap|tRNA selenocysteine 1 associated protein 1 [Source:MGI Symbol;Acc:MGI:1919037]|Heterozygous||C|A|41|39.0|Non-synonymous|Line Propagating
5149817|IGL00944|18|44337114|S->P|0.29|Benign|MGI:1889800|Myot|myotilin [Source:MGI Symbol;Acc:MGI:1889800]|Heterozygous|Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology.|T|C|35|39.0|Non-synonymous|Line Propagating
5149818|IGL00944|5|41816823|C->R||Benign|MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|G|33|39.0|Non-synonymous|Line Propagating
5149819|IGL00944|6|122839635|L->P|0.93|Possibly damaging|MGI:1926805|Foxj2|forkhead box J2 [Source:MGI Symbol;Acc:MGI:1926805]|Heterozygous||T|C|33|37.0|Non-synonymous|Line Propagating
5149820|IGL00944|2|86733561|I->T|0.1|Benign|MGI:3030923|Olfr1089|olfactory receptor 1089 [Source:MGI Symbol;Acc:MGI:3030923]|Heterozygous||A|G|30|39.0|Non-synonymous|Line Propagating
5149821|IGL00944|15|78905114|D->V|0.18|Benign|MGI:104603|Sh3bp1|SH3-domain binding protein 1 [Source:MGI Symbol;Acc:MGI:104603]|Heterozygous||A|T|29|38.0|Non-synonymous|Line Propagating
5149822|IGL00944|9|64133129|Y->Stop||N/A|MGI:2183549|Lctl|lactase-like [Source:MGI Symbol;Acc:MGI:2183549]|Heterozygous||T|A|25|39.0|Non-synonymous|Line Propagating
5149824|IGL00944|4|94693022|Y->H|1.0|Probably damaging|MGI:1914944|Ift74|intraflagellar transport 74 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1914944]|Heterozygous||T|C|20|39.0|Non-synonymous|Line Propagating
5149825|IGL00944|7|45318349|H->R||Benign|MGI:1915917|Trpm4|transient receptor potential cation channel, subfamily M, member 4 [Source:MGI Symbol;Acc:MGI:1915917]|Heterozygous|Mice homozygous for a knock-out allele display increased Ca2+ influx and IgE-dependent mast cell activation, increased vascular permeability, and enhanced acute anaphylactic responses. Mice homozygous for a different knock-out allele show Ca2+ overload and impaired dendritic cell migration.|T|C|20|38.0|Non-synonymous|Line Propagating
5149826|IGL00944|7|127867907|R->W|1.0|Probably damaging|MGI:2442943|Zfp668|zinc finger protein 668 [Source:MGI Symbol;Acc:MGI:2442943]|Heterozygous||G|A|20|40.0|Non-synonymous|Line Propagating
5149827|IGL00944|11|43202161|N->S|1.0|Probably damaging|MGI:2442688|Atp10b|ATPase, class V, type 10B [Source:MGI Symbol;Acc:MGI:2442688]|Heterozygous||A|G|19|39.0|Non-synonymous|Line Propagating
5149828|IGL00944|2|20530054|V->I|0.02|Benign|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||G|A|17|36.0|Non-synonymous|Line Propagating
5149829|IGL00944|11|98113242|F->L|0.96|Probably damaging|MGI:1919444|Fbxl20|F-box and leucine-rich repeat protein 20 [Source:MGI Symbol;Acc:MGI:1919444]|Heterozygous|Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission.|A|C|14|36.5|Non-synonymous|Line Propagating
5149830|IGL00944|6|50163456|V->A|0.99|Probably damaging|MGI:1927340|Mpp6|membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) [Source:MGI Symbol;Acc:MGI:1927340]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
5149831|IGL00944|17|42611228|L->F|1.0|Probably damaging|MGI:2662912|Opn5|opsin 5 [Source:MGI Symbol;Acc:MGI:2662912]|Heterozygous||G|A|12|40.0|Non-synonymous|Line Propagating
5149834|IGL00944|2|37398238|Disrupted splicing|||MGI:2442789|Rc3h2|ring finger and CCCH-type zinc finger domains 2 [Source:MGI Symbol;Acc:MGI:2442789]|Heterozygous||A|G|54|39.0|Splice|Line Propagating
5149835|IGL00944|4|111805928|Disrupted splicing|||MGI:1915196|Spata6|spermatogenesis associated 6 [Source:MGI Symbol;Acc:MGI:1915196]|Heterozygous||C|T|52|39.5|Splice|Line Propagating
5149837|IGL00944|10|81184076|Disrupted splicing|||MGI:1203520|Dapk3|death-associated protein kinase 3 [Source:MGI Symbol;Acc:MGI:1203520]|Heterozygous||G|T|43|40.0|Splice|Line Propagating
5149838|IGL00944|15|4951127|Disrupted splicing|||MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||C|T|23|40.0|Splice|Line Propagating
5149839|IGL00944|12|84160548|Disrupted splicing|||MGI:2685106|C130039o16rik|RIKEN cDNA C130039O16 gene [Source:MGI Symbol;Acc:MGI:2685106]|Heterozygous||A|G|22|39.0|Splice|Line Propagating
5149840|IGL00944|16|94426761|Disrupted splicing|||MGI:1276539|Ttc3|tetratricopeptide repeat domain 3 [Source:MGI Symbol;Acc:MGI:1276539]|Heterozygous||T|G|21|41.0|Splice|Line Propagating
5149841|IGL00944|3|28045098|Disrupted splicing|||MGI:109585|Pld1|phospholipase D1 [Source:MGI Symbol;Acc:MGI:109585]|Heterozygous||T|A|12|41.0|Splice|Line Propagating
5152866|IGL00949|X|49040607|D->E||Benign|MGI:2384799|Enox2|ecto-NOX disulfide-thiol exchanger 2 [Source:MGI Symbol;Acc:MGI:2384799]|Heterozygous||A|T|88|40.0|Non-synonymous|Line Propagating
5152867|IGL00949|13|100161591|F->L|1.0|Probably damaging|MGI:1298226|Naip2|NLR family, apoptosis inhibitory protein 2 [Source:MGI Symbol;Acc:MGI:1298226]|Heterozygous||A|G|84|38.0|Non-synonymous|Line Propagating
5152868|IGL00949|4|133416451|T->I|0.36|Benign|MGI:102462|Slc9a1|solute carrier family 9 (sodium/hydrogen exchanger), member 1 [Source:MGI Symbol;Acc:MGI:102462]|Heterozygous|Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.|C|T|64|37.0|Non-synonymous|Line Propagating
5152869|IGL00949|14|108911809|V->D|0.96|Probably damaging|MGI:2679446|Slitrk1|SLIT and NTRK-like family, member 1 [Source:MGI Symbol;Acc:MGI:2679446]|Heterozygous||A|T|60|39.0|Non-synonymous|Line Propagating
5152870|IGL00949|8|105290498|E->G|0.45|Possibly damaging|MGI:3041195|Exoc3l|exocyst complex component 3-like [Source:MGI Symbol;Acc:MGI:3041195]|Heterozygous||T|C|54|37.0|Non-synonymous|Line Propagating
5152871|IGL00949|3|95487268|I->N|1.0|Probably damaging|MGI:88071|Arnt|aryl hydrocarbon receptor nuclear translocator [Source:MGI Symbol;Acc:MGI:88071]|Heterozygous|Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5.|T|A|48|40.0|Non-synonymous|Line Propagating
5152872|IGL00949|13|93454002|V->A|0.55|Possibly damaging|MGI:1913096|Jmy|junction-mediating and regulatory protein [Source:MGI Symbol;Acc:MGI:1913096]|Heterozygous||A|G|46|39.0|Non-synonymous|Line Propagating
5152873|IGL00949|19|11079444|L->F|0.99|Probably damaging|MGI:1927657|Ms4a8a|membrane-spanning 4-domains, subfamily A, member 8A [Source:MGI Symbol;Acc:MGI:1927657]|Heterozygous||C|A|42|39.0|Non-synonymous|Line Propagating
5152874|IGL00949|8|109569075|V->D||Benign|MGI:2443724|Txnl4b|thioredoxin-like 4B [Source:MGI Symbol;Acc:MGI:2443724]|Heterozygous||T|A|42|38.5|Non-synonymous|Line Propagating
5152875|IGL00949|8|122908728|T->A|0.12|Benign|MGI:1924337|Ankrd11|ankyrin repeat domain 11 [Source:MGI Symbol;Acc:MGI:1924337]|Heterozygous|Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.|T|C|42|35.5|Non-synonymous|Line Propagating
5152876|IGL00949|15|99306538|V->L|0.24|Benign|MGI:1925583|Prpf40b|PRP40 pre-mRNA processing factor 40 homolog B (yeast) [Source:MGI Symbol;Acc:MGI:1925583]|Heterozygous||G|T|41|38.0|Non-synonymous|Line Propagating
5152877|IGL00949|2|39041255|E->G|0.91|Possibly damaging|MGI:1924149|Golga1|golgi autoantigen, golgin subfamily a, 1 [Source:MGI Symbol;Acc:MGI:1924149]|Heterozygous||T|C|41|40.0|Non-synonymous|Line Propagating
5152878|IGL00949|5|64953512|L->P|1.0|Probably damaging|MGI:1341296|Tlr6|toll-like receptor 6 [Source:MGI Symbol;Acc:MGI:1341296]|Heterozygous|Inactivation of this gene results in abnormal macrophage function.|A|G|40|39.0|Non-synonymous|Line Propagating
5152879|IGL00949|17|53515639|N->S||Benign|MGI:3612067|4921523a10rik|RIKEN cDNA 4921523A10 gene [Source:MGI Symbol;Acc:MGI:3612067]|Heterozygous||T|C|36|40.5|Non-synonymous|Line Propagating
5152880|IGL00949|X|142343329|C->R|0.62|Possibly damaging|MGI:1354713|Acsl4|acyl-CoA synthetase long-chain family member 4 [Source:MGI Symbol;Acc:MGI:1354713]|Heterozygous|Female heterozygotes for a targeted null mutation exhibit accumulation of prostaglandins in the uterus, reduced fertility with few and small litters, and very low transmission of the mutant allele.|A|G|35|38.0|Non-synonymous|Line Propagating
5152881|IGL00949|1|84038506|V->A|0.97|Probably damaging|MGI:97582|Pid1|phosphotyrosine interaction domain containing 1 [Source:MGI Symbol;Acc:MGI:2138391]|Heterozygous||A|G|33|40.0|Non-synonymous|Line Propagating
5152882|IGL00949|6|107569300|N->K|0.46|Possibly damaging|MGI:106038|Lrrn1|leucine rich repeat protein 1, neuronal [Source:MGI Symbol;Acc:MGI:106038]|Heterozygous||C|A|33|39.0|Non-synonymous|Line Propagating
5152883|IGL00949|17|35887934|T->A|0.11|Benign|MGI:1916442|Dhx16|DEAH (Asp-Glu-Ala-His) box polypeptide 16 [Source:MGI Symbol;Acc:MGI:1916442]|Heterozygous||A|G|30|37.5|Non-synonymous|Line Propagating
5152884|IGL00949|18|19985631|G->C|1.0|Probably damaging|MGI:1194993|Dsc3|desmocollin 3 [Source:MGI Symbol;Acc:MGI:1194993]|Heterozygous|Homozygous null mice die before implantation. Heterozygous mice do not display any gross abnormalities and have normal epidermal development and keratinocyte differentiation.|C|A|30|40.0|Non-synonymous|Line Propagating
5152885|IGL00949|3|101072845|M->K|0.03|Benign|MGI:1277114|Ptgfrn|prostaglandin F2 receptor negative regulator [Source:MGI Symbol;Acc:MGI:1277114]|Heterozygous||A|T|30|38.0|Non-synonymous|Line Propagating
5152886|IGL00949|13|13635485|V->A|0.89|Possibly damaging|MGI:107448|Lyst|lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]|Heterozygous|Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells.|T|C|29|38.0|Non-synonymous|Line Propagating
5152887|IGL00949|13|23762031|T->I|0.98|Probably damaging|MGI:2668828|Hist1h3a|histone cluster 1, H3a [Source:MGI Symbol;Acc:MGI:2668828]|Heterozygous||G|A|29|37.0|Non-synonymous|Line Propagating
5152888|IGL00949|3|32886577|E->K|0.22|Benign|MGI:1919857|Usp13|ubiquitin specific peptidase 13 (isopeptidase T-3) [Source:MGI Symbol;Acc:MGI:1919857]|Heterozygous||G|A|29|40.0|Non-synonymous|Line Propagating
5152889|IGL00949|9|53563362|V->A|0.03|Benign|MGI:107605|Npat|nuclear protein in the AT region [Source:MGI Symbol;Acc:MGI:107605]|Heterozygous||T|C|28|40.0|Non-synonymous|Line Propagating
5152890|IGL00949|11|104529403|Y->C|0.01|Benign|MGI:102685|Cdc27|cell division cycle 27 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:102685]|Heterozygous||T|C|27|32.0|Non-synonymous|Line Propagating
5152894|IGL00949|13|21611351|I->N|0.88|Possibly damaging|MGI:3031196|Olfr1362|olfactory receptor 1362 [Source:MGI Symbol;Acc:MGI:3031196]|Heterozygous||A|T|23|39.0|Non-synonymous|Line Propagating
5152895|IGL00949|2|157982399|Y->H|0.04|Benign|MGI:1922675|Tti1|Tel2 interacting protein 1 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1922675]|Heterozygous||A|G|22|39.0|Non-synonymous|Line Propagating
5152896|IGL00949|3|90089858|E->G|1.0|Probably damaging|MGI:1890149|Tpm3|tropomyosin 3, gamma [Source:MGI Symbol;Acc:MGI:1890149]|Heterozygous|Homozygous inactivation of this gene results in early embryonic death, prior to blastocyst formation.|A|G|21|38.0|Non-synonymous|Line Propagating
5152897|IGL00949|16|45593358|S->P|0.66|Possibly damaging|MGI:2685456|Slc9a10|solute carrier family 9, member 10 [Source:MGI Symbol;Acc:MGI:2685456]|Heterozygous||T|C|20|37.0|Non-synonymous|Line Propagating
5152898|IGL00949|14|31307090|M->T||Benign|MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|A|G|19|38.0|Non-synonymous|Line Propagating
5152899|IGL00949|9|50499223|T->A|0.66|Possibly damaging|MGI:1923759|1600029d21rik|RIKEN cDNA 1600029D21 gene [Source:MGI Symbol;Acc:MGI:1923759]|Heterozygous||A|G|19|37.0|Non-synonymous|Line Propagating
5152900|IGL00949|5|74003242|L->Q|0.25|Benign|MGI:1916977|Usp46|ubiquitin specific peptidase 46 [Source:MGI Symbol;Acc:MGI:1916977]|Heterozygous||A|T|18|40.0|Non-synonymous|Line Propagating
5152902|IGL00949|1|175975473|C->S|0.01|Benign|MGI:2442056|Pld5|phospholipase D family, member 5 [Source:MGI Symbol;Acc:MGI:2442056]|Heterozygous||A|T|14|40.0|Non-synonymous|Line Propagating
5152903|IGL00949|4|25275822|F->I|0.55|Possibly damaging|MGI:1914740|1810074p20rik|RIKEN cDNA 1810074P20 gene [Source:MGI Symbol;Acc:MGI:1914740]|Heterozygous||A|T|14|40.0|Non-synonymous|Line Propagating
5152905|IGL00949|7|142897026|Y->C||Benign|MGI:98740|Th|tyrosine hydroxylase [Source:MGI Symbol;Acc:MGI:98735]|Heterozygous|Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic.|T|C|13|33.0|Non-synonymous|Line Propagating
5152906|IGL00949|X|38435473|N->S|0.02|Benign|MGI:96748|Lamp2|lysosomal-associated membrane protein 2 [Source:MGI Symbol;Acc:MGI:96748]|Heterozygous|The majority of hemizygous or homozygous mutant mice die prematurely displaying cardiomyopathy and accumulation of autophagic vacuoles in several tissues including liver, pancreas, spleen, kidney and skeletal and cardiac muscle.|T|C|11|36.0|Non-synonymous|Line Propagating
5152907|IGL00949|13|102693760|T->S|0.03|Benign|MGI:1194924|Cd180|CD180 antigen [Source:MGI Symbol;Acc:MGI:1194924]|Heterozygous|Mice homozygous for a null mutation showed impaired proliferative and humoral immune responses of B cells to lipopolysaccharides.|A|T|10|39.0|Non-synonymous|Line Propagating
5152909|IGL00949|10|79737597|Disrupted splicing|||MGI:1915843|Polrmt|polymerase (RNA) mitochondrial (DNA directed) [Source:MGI Symbol;Acc:MGI:1915843]|Heterozygous||T|C|74|36.5|Splice|Line Propagating
5152910|IGL00949|14|55676750|Disrupted splicing|||MGI:1917903|Gmpr2|guanosine monophosphate reductase 2 [Source:MGI Symbol;Acc:MGI:1917903]|Heterozygous||C|T|36|40.0|Splice|Line Propagating
5152911|IGL00949|8|69800003|Disrupted splicing|||MGI:2180801|Atp13a1|ATPase type 13A1 [Source:MGI Symbol;Acc:MGI:2180801]|Heterozygous||T|C|34|39.0|Splice|Line Propagating
5152912|IGL00949|3|36563266|Disrupted splicing|||MGI:1355319|Exosc9|exosome component 9 [Source:MGI Symbol;Acc:MGI:1355319]|Heterozygous||T|C|14|39.0|Splice|Line Propagating
5153503|IGL00950|5|125086890|R->L|||MGI:1337080|Ncor2|nuclear receptor co-repressor 2 [Source:MGI Symbol;Acc:MGI:1337080]|Heterozygous|Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects.|C|A|88|38.0|Non-synonymous|Line Propagating
5153504|IGL00950|17|35382858|D->A|1.0|Probably damaging|MGI:95933|H2-gs10|MHC class I like protein GS10 [Source:MGI Symbol;Acc:MGI:3808875]|Heterozygous||A|C|87|40.0|Non-synonymous|Line Propagating
5153506|IGL00950|15|76348224|E->G|0.98|Probably damaging|MGI:1913331|Sharpin|SHANK-associated RH domain interacting protein [Source:MGI Symbol;Acc:MGI:1913331]|Heterozygous|Mutations in this gene produces chronic skin lesions.|T|C|77|37.0|Non-synonymous|Line Propagating
5153507|IGL00950|19|8335788|D->E|0.14|Benign|MGI:2442750|C730048c13rik|RIKEN cDNA C730048C13 gene [Source:MGI Symbol;Acc:MGI:2442750]|Heterozygous||A|T|73|40.0|Non-synonymous|Line Propagating
5153508|IGL00950|11|70619157|G->S||Unknown|MGI:87894|Chrne|cholinergic receptor, nicotinic, epsilon polypeptide [Source:MGI Symbol;Acc:MGI:87894]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced AChR receptor density at neuromuscular synapses, impaired neuromuscular transmission, progressive muscular weakness and atrophy, and lethality at 2-3 months of age.|C|T|69|39.0|Non-synonymous|Line Propagating
5153509|IGL00950|14|52161798|E->G|0.94|Possibly damaging|MGI:1890948|Supt16h|suppressor of Ty 16 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1890948]|Heterozygous||T|C|63|39.0|Non-synonymous|Line Propagating
5153510|IGL00950|2|57999132|V->A||Benign|MGI:2179403|Galnt5|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 [Source:MGI Symbol;Acc:MGI:2179403]|Heterozygous|An unpublished knockout mutation is reported to have no overt phenotypic consequences.|T|C|50|39.0|Non-synonymous|Line Propagating
5153511|IGL00950|13|96946556|Y->C|1.0|Probably damaging|MGI:2684919|Gcnt4|glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) [Source:MGI Symbol;Acc:MGI:2684919]|Heterozygous||A|G|48|39.0|Non-synonymous|Line Propagating
5153512|IGL00950|6|48978131|N->T|0.07|Benign|MGI:3618290|Doxl2|diamine oxidase-like protein 2 [Source:MGI Symbol;Acc:MGI:3618290]|Heterozygous||A|C|43|39.0|Non-synonymous|Line Propagating
5153513|IGL00950|5|34891441|I->V||Benign|MGI:96285|Htt|huntingtin [Source:MGI Symbol;Acc:MGI:96067]|Heterozygous|Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.|A|G|42|40.0|Non-synonymous|Line Propagating
5153514|IGL00950|1|132459988|T->I|0.9|Possibly damaging|MGI:1925064|Dstyk|dual serine/threonine and tyrosine protein kinase [Source:MGI Symbol;Acc:MGI:1925064]|Heterozygous||C|T|38|40.0|Non-synonymous|Line Propagating
5153515|IGL00950|7|23754486|H->Q|0.26|Benign|MGI:3033491|Vmn1r174|vomeronasal 1 receptor 174 [Source:MGI Symbol;Acc:MGI:3033491]|Heterozygous||C|A|36|40.0|Non-synonymous|Line Propagating
5153516|IGL00950|1|59215382|A->V||Benign|MGI:1921268|Als2|amyotrophic lateral sclerosis 2 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1921268]|Heterozygous|Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract.|G|A|34|40.0|Non-synonymous|Line Propagating
5153517|IGL00950|10|80864094|L->R|1.0|Probably damaging|MGI:1920468|3110056o03rik|RIKEN cDNA 3110056O03 gene [Source:MGI Symbol;Acc:MGI:1920468]|Heterozygous||T|G|33|38.0|Non-synonymous|Line Propagating
5153518|IGL00950|1|133387106|V->A|0.05|Benign|MGI:98361|Sox13|SRY-box containing gene 13 [Source:MGI Symbol;Acc:MGI:98361]|Heterozygous|Mice homozygous for a knock-out allele display impaired development of gamma-delta T cells and severe postnatal growth defects.|A|G|32|33.0|Non-synonymous|Line Propagating
5153519|IGL00950|7|67120912|V->A|0.04|Benign|MGI:3588195|Adamts17|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17 [Source:MGI Symbol;Acc:MGI:3588195]|Heterozygous||T|C|32|35.5|Non-synonymous|Line Propagating
5153520|IGL00950|9|83577490|F->I|0.99|Probably damaging|MGI:1915350|Sh3bgrl2|SH3 domain binding glutamic acid-rich protein like 2 [Source:MGI Symbol;Acc:MGI:1915350]|Heterozygous||T|A|32|38.0|Non-synonymous|Line Propagating
5153521|IGL00950|7|16199826|R->H|1.0|Probably damaging|MGI:1918973|Dhx34|DEAH (Asp-Glu-Ala-His) box polypeptide 34 [Source:MGI Symbol;Acc:MGI:1918973]|Heterozygous||C|T|31|37.0|Non-synonymous|Line Propagating
5153522|IGL00950|11|46367896|I->F|0.75|Possibly damaging|MGI:96621|Itk|IL2-inducible T-cell kinase [Source:MGI Symbol;Acc:MGI:96621]|Heterozygous|Mice homozygous for disruptions in this gene display decreased percentages of CD4 and CD8 cells, increased percentage of B cells, impaired T cell receptor signaling, and increased susceptibility to Toxoplasma gondii infection.|T|A|29|41.0|Non-synonymous|Line Propagating
5153523|IGL00950|18|37486006|Q->L|0.58|Possibly damaging|MGI:2136754|Pcdhb17|protocadherin beta 17 [Source:MGI Symbol;Acc:MGI:2136754]|Heterozygous||A|T|29|40.0|Non-synonymous|Line Propagating
5153524|IGL00950|2|125358823|G->E|1.0|Probably damaging|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|C|T|28|41.0|Non-synonymous|Line Propagating
5153525|IGL00950|1|153240495|P->H|||MGI:99914|Lamc1|laminin, gamma 1 [Source:MGI Symbol;Acc:MGI:99914]|Heterozygous|Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.|G|T|27|38.0|Non-synonymous|Line Propagating
5153526|IGL00950|1|46214322|M->L|0.01|Benign|MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||A|T|22|39.0|Non-synonymous|Line Propagating
5153527|IGL00950|2|147028146|R->Stop||N/A|MGI:894687|Xrn2|5'-3' exoribonuclease 2 [Source:MGI Symbol;Acc:MGI:894687]|Heterozygous||A|T|22|38.0|Non-synonymous|Line Propagating
5153528|IGL00950|10|60364284|Q->Stop||N/A|MGI:1921298|4632428n05rik|RIKEN cDNA 4632428N05 gene [Source:MGI Symbol;Acc:MGI:1921298]|Heterozygous||C|T|21|35.0|Non-synonymous|Line Propagating
5153529|IGL00950|7|125843221|D->E||Benign|MGI:2442760|D430042o09rik|RIKEN cDNA D430042O09 gene [Source:MGI Symbol;Acc:MGI:2442760]|Heterozygous||T|A|19|38.0|Non-synonymous|Line Propagating
5153530|IGL00950|2|155941706|V->A|0.96|Probably damaging|MGI:95688|Gdf5|growth differentiation factor 5 [Source:MGI Symbol;Acc:MGI:95688]|Heterozygous|Homozygotes for null mutations exhibit slightly shortened long bones of the limbs, and drastically shortened bones of the feet, with some complete or partial fusions.|A|G|17|40.0|Non-synonymous|Line Propagating
5153531|IGL00950|16|20683628|K->E|1.0|Probably damaging|MGI:2384784|Eif4g1|eukaryotic translation initiation factor 4, gamma 1 [Source:MGI Symbol;Acc:MGI:2384784]|Heterozygous||A|G|16|39.0|Non-synonymous|Line Propagating
5153532|IGL00950|3|107621445|S->C|0.9|Possibly damaging|MGI:2443884|Fam40a|family with sequence similarity 40, member A [Source:MGI Symbol;Acc:MGI:2443884]|Heterozygous||T|A|16|35.0|Non-synonymous|Line Propagating
5153533|IGL00950|11|55226128|C->R|1.0|Probably damaging|MGI:2445299|Slc36a1|solute carrier family 36 (proton/amino acid symporter), member 1 [Source:MGI Symbol;Acc:MGI:2445299]|Heterozygous||T|C|14|41.0|Non-synonymous|Line Propagating
5153534|IGL00950|7|45622871|C->Stop||N/A|MGI:1920706|Izumo1|izumo sperm-egg fusion 1 [Source:MGI Symbol;Acc:MGI:1920706]|Heterozygous|Homozygous null male mice are infertile due to inability of sperm to fuse with the egg.|T|A|10|35.5|Non-synonymous|Line Propagating
5153536|IGL00950|12|30312681|Disrupted splicing|||MGI:1919541|Sntg2|syntrophin, gamma 2 [Source:MGI Symbol;Acc:MGI:1919541]|Heterozygous||T|C|71|36.0|Splice|Line Propagating
5153537|IGL00950|9|108067395|Disrupted splicing|||MGI:2148796|Rnf123|ring finger protein 123 [Source:MGI Symbol;Acc:MGI:2148796]|Heterozygous||C|A|21|37.0|Splice|Line Propagating
5153538|IGL00950|10|9808602|Disrupted splicing|||MGI:1926058|Stxbp5|syntaxin binding protein 5 (tomosyn) [Source:MGI Symbol;Acc:MGI:1926058]|Heterozygous|Mice homozygous for a null allele exhibit some background sensitive prenatal lethality and increased synaptic transmission.|T|A|11|39.0|Splice|Line Propagating
5154131|IGL00951|6|116557066|V->I||Benign|MGI:3030048|Olfr214|olfactory receptor 214 [Source:MGI Symbol;Acc:MGI:3030048]|Heterozygous||G|A|136|40.0|Non-synonymous|Line Propagating
5154132|IGL00951|16|59086393|L->R|0.89|Possibly damaging|MGI:3030025|Olfr191|olfactory receptor 191 [Source:MGI Symbol;Acc:MGI:3030025]|Heterozygous||A|C|99|40.0|Non-synonymous|Line Propagating
5154133|IGL00951|10|129945712|S->P|1.0|Probably damaging|MGI:3030652|Olfr818|olfactory receptor 818 [Source:MGI Symbol;Acc:MGI:3030652]|Heterozygous||A|G|83|40.0|Non-synonymous|Line Propagating
5154134|IGL00951|9|99505704|R->L|0.8|Possibly damaging|MGI:1921375|Armc8|armadillo repeat containing 8 [Source:MGI Symbol;Acc:MGI:1921375]|Heterozygous||C|A|71|40.0|Non-synonymous|Line Propagating
5154135|IGL00951|2|87782539|I->F|||MGI:1313139|Olfr152|olfactory receptor 152 [Source:MGI Symbol;Acc:MGI:1313139]|Heterozygous||A|T|68|40.0|Non-synonymous|Line Propagating
5154136|IGL00951|3|82111191|D->G|0.93|Possibly damaging|MGI:1926562|Gucy1a3|guanylate cyclase 1, soluble, alpha 3 [Source:MGI Symbol;Acc:MGI:1926562]|Heterozygous|Mice homozygous for a null mutation display mild elevation of systolic blood pressure, and abnormal blood vessel and platelet responses to NO.|T|C|59|39.0|Non-synonymous|Line Propagating
5154137|IGL00951|9|45930872|N->I|0.9|Possibly damaging|MGI:106012|Tagln|transgelin [Source:MGI Symbol;Acc:MGI:106012]|Heterozygous|Mice homozygous for targeted mutations in this gene are viable, fertile and phenotypically normal.|T|A|55|39.0|Non-synonymous|Line Propagating
5154138|IGL00951|16|59027853|T->I|0.04|Benign|MGI:3030020|Olfr186|olfactory receptor 186 [Source:MGI Symbol;Acc:MGI:3030020]|Heterozygous||G|A|48|39.0|Non-synonymous|Line Propagating
5154139|IGL00951|2|26912429|D->G|0.4|Benign|MGI:1353472|Rpl7a|ribosomal protein L7A [Source:MGI Symbol;Acc:MGI:1353472]|Heterozygous||A|G|45|39.0|Non-synonymous|Line Propagating
5154140|IGL00951|5|110792404|C->R|0.01|Benign|MGI:1270126|Ulk1|Unc-51 like kinase 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1270126]|Heterozygous|Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria.|A|G|45|39.0|Non-synonymous|Line Propagating
5154141|IGL00951|3|84464313|T->A|0.8|Possibly damaging|MGI:2684972|Fhdc1|FH2 domain containing 1 [Source:MGI Symbol;Acc:MGI:2684972]|Heterozygous||T|C|44|38.5|Non-synonymous|Line Propagating
5154142|IGL00951|5|129982267|T->I||Benign|MGI:1916818|Vkorc1l1|vitamin K epoxide reductase complex, subunit 1-like 1 [Source:MGI Symbol;Acc:MGI:1916818]|Heterozygous||C|T|37|40.0|Non-synonymous|Line Propagating
5154143|IGL00951|7|24137080|F->S|1.0|Probably damaging|MGI:1929117|Zfp235|zinc finger protein 235 [Source:MGI Symbol;Acc:MGI:1929117]|Heterozygous||T|C|35|40.0|Non-synonymous|Line Propagating
5154144|IGL00951|6|40491979|R->Stop||N/A|MGI:3606604|Tas2r137|taste receptor, type 2, member 137 [Source:MGI Symbol;Acc:MGI:3606604]|Heterozygous||A|T|33|40.0|Non-synonymous|Line Propagating
5154145|IGL00951|18|51303339|R->G|1.0|Probably damaging|MGI:1918623|Prr16|proline rich 16 [Source:MGI Symbol;Acc:MGI:1918623]|Heterozygous||A|G|32|37.5|Non-synonymous|Line Propagating
5154146|IGL00951|1|188263465|E->D|0.15|Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) homolog (human) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|A|T|31|39.0|Non-synonymous|Line Propagating
5154147|IGL00951|6|113322553|D->E|1.0|Probably damaging|MGI:1926033|Brpf1|bromodomain and PHD finger containing, 1 [Source:MGI Symbol;Acc:MGI:1926033]|Heterozygous||C|A|30|38.5|Non-synonymous|Line Propagating
5154148|IGL00951|6|37000159|M->T|0.95|Possibly damaging|MGI:2443430|Dgki|diacylglycerol kinase, iota [Source:MGI Symbol;Acc:MGI:2443430]|Heterozygous|Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester.|A|G|29|37.0|Non-synonymous|Line Propagating
5154149|IGL00951|14|73322072|V->D|1.0|Probably damaging|MGI:97874|Rb1|retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.|A|T|28|39.0|Non-synonymous|Line Propagating
5154150|IGL00951|19|29299583|R->G|1.0|Probably damaging|MGI:96629|Jak2|Janus kinase 2 [Source:MGI Symbol;Acc:MGI:96629]|Heterozygous|Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.|A|G|27|40.0|Non-synonymous|Line Propagating
5154151|IGL00951|2|33273602|L->V|1.0|Probably damaging|MGI:1922008|Ralgps1|Ral GEF with PH domain and SH3 binding motif 1 [Source:MGI Symbol;Acc:MGI:1922008]|Heterozygous||A|C|27|39.0|Non-synonymous|Line Propagating
5154152|IGL00951|10|52143252|Y->H|0.99|Probably damaging|MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|A|G|26|40.0|Non-synonymous|Line Propagating
5154153|IGL00951|8|109577497|D->G|0.46|Possibly damaging|MGI:96211|Hp|haptoglobin [Source:MGI Symbol;Acc:MGI:96211]|Heterozygous||T|C|26|38.0|Non-synonymous|Line Propagating
5154154|IGL00951|8|57583824|M->K|0.29|Benign|MGI:1349449|Galnt7|UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 7 [Source:MGI Symbol;Acc:MGI:1349449]|Heterozygous||A|T|23|41.0|Non-synonymous|Line Propagating
5154155|IGL00951|7|101751260|M->V|0.19|Benign|MGI:1100517|Clpb|ClpB caseinolytic peptidase B homolog (E. coli) [Source:MGI Symbol;Acc:MGI:1100517]|Heterozygous||A|G|22|40.0|Non-synonymous|Line Propagating
5154157|IGL00951|1|165605822|F->L|0.1|Benign|MGI:1915731|Mpzl1|myelin protein zero-like 1 [Source:MGI Symbol;Acc:MGI:1915731]|Heterozygous||A|G|20|40.0|Non-synonymous|Line Propagating
5154158|IGL00951|1|176878002|M->V|0.65|Possibly damaging|MGI:1924066|Sdccag8|serologically defined colon cancer antigen 8 [Source:MGI Symbol;Acc:MGI:1924066]|Heterozygous||A|G|16|39.5|Non-synonymous|Line Propagating
5154159|IGL00951|19|11554921|I->F|0.01|Benign|MGI:1913857|Ms4a4d|membrane-spanning 4-domains, subfamily A, member 4D [Source:MGI Symbol;Acc:MGI:1913857]|Heterozygous||A|T|16|39.5|Non-synonymous|Line Propagating
5154160|IGL00951|12|55866049|I->V|0.54|Possibly damaging|MGI:1196337|Brms1l|breast cancer metastasis-suppressor 1-like [Source:MGI Symbol;Acc:MGI:1196337]|Heterozygous||A|G|15|40.0|Non-synonymous|Line Propagating
5154161|IGL00951|3|87994174|E->G|0.99|Probably damaging|MGI:1096385|Bcan|brevican [Source:MGI Symbol;Acc:MGI:1096385]|Heterozygous|Homozygous mutation of this gene results in impaired LTP maintenence, but mutant animals show normal behavior and spatial learning capabilities.|T|C|15|37.0|Non-synonymous|Line Propagating
5154162|IGL00951|10|27030285|D->E|0.02|Benign|MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|A|T|13|41.0|Non-synonymous|Line Propagating
5154163|IGL00951|11|98968166|D->G|0.05|Benign|MGI:97856|Rara|retinoic acid receptor, alpha [Source:MGI Symbol;Acc:MGI:97856]|Heterozygous|Homozygotes for targeted null mutations show high neonatal mortality due to maternal cannibalization, failure to thrive, and excess mortality during the postnatal period. Male survivors exhibit testicular degeneration.|A|G|13|38.0|Non-synonymous|Line Propagating
5154166|IGL00951|15|90601893|Disrupted splicing|||MGI:1914121|Cpne8|copine VIII [Source:MGI Symbol;Acc:MGI:1914121]|Heterozygous||A|T|139|40.0|Splice|Line Propagating
5154169|IGL00951|9|35552835|Disrupted splicing|||MGI:1353582|Ddx25|DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 [Source:MGI Symbol;Acc:MGI:1353582]|Heterozygous|Homozygous null mice display male infertility, arrest of spermatogenesis at step 8, abnormal Leydig cells, and increased germ cell apoptosis in males.|A|T|13|37.0|Splice|Line Propagating
5156072|IGL00954|6|123815637|C->Y|1.0|Probably damaging|MGI:3647530|Vmn2r24|vomeronasal 2, receptor 24 [Source:MGI Symbol;Acc:MGI:3647530]|Heterozygous||G|A|122|40.0|Non-synonymous|Line Propagating
5156073|IGL00954|17|37772614|N->K||Benign|MGI:2177505|Olfr122|olfactory receptor 122 [Source:MGI Symbol;Acc:MGI:2177505]|Heterozygous||T|A|96|40.0|Non-synonymous|Line Propagating
5156074|IGL00954|10|75584863|R->Q|0.99|Probably damaging|MGI:95706|Ggt1|gamma-glutamyltransferase 1 [Source:MGI Symbol;Acc:MGI:95706]|Heterozygous|Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span.|G|A|73|35.0|Non-synonymous|Line Propagating
5156075|IGL00954|11|119346485|E->D||Benign|MGI:1350341|Sgsh|N-sulfoglucosamine sulfohydrolase (sulfamidase) [Source:MGI Symbol;Acc:MGI:1350341]|Heterozygous|Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities.|T|A|67|38.0|Non-synonymous|Line Propagating
5156076|IGL00954|9|18876073|S->T|0.87|Possibly damaging|MGI:3030664|Olfr830|olfactory receptor 830 [Source:MGI Symbol;Acc:MGI:3030664]|Heterozygous||T|A|60|40.0|Non-synonymous|Line Propagating
5156078|IGL00954|1|73924969|V->G|1.0|Probably damaging|MGI:104552|Tns1|tensin 1 [Source:MGI Symbol;Acc:MGI:104552]|Heterozygous|Homozygous null mice become frail and develop cystic kidneys after several months of life. Progressive cyst formation led to kidney degeneration and death from renal failure.|A|C|46|37.0|Non-synonymous|Line Propagating
5156080|IGL00954|3|49756389|D->V|1.0|Probably damaging|MGI:1920423|Pcdh18|protocadherin 18 [Source:MGI Symbol;Acc:MGI:1920423]|Heterozygous||T|A|41|38.0|Non-synonymous|Line Propagating
5156081|IGL00954|8|75110112|N->Y|0.61|Possibly damaging|MGI:103197|Mcm5|minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:103197]|Heterozygous||A|T|37|40.0|Non-synonymous|Line Propagating
5156083|IGL00954|9|36789870|I->N|1.0|Probably damaging|MGI:108090|Ei24|etoposide induced 2.4 mRNA [Source:MGI Symbol;Acc:MGI:108090]|Heterozygous||A|T|35|40.0|Non-synonymous|Line Propagating
5156084|IGL00954|1|172290634|S->P|1.0|Probably damaging|MGI:88106|Atp1a2|ATPase, Na+/K+ transporting, alpha 2 polypeptide [Source:MGI Symbol;Acc:MGI:88106]|Heterozygous|Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons.|A|G|33|39.0|Non-synonymous|Line Propagating
5156085|IGL00954|5|38262045|N->S|1.0|Probably damaging|MGI:1913559|Tmem128|transmembrane protein 128 [Source:MGI Symbol;Acc:MGI:1913559]|Heterozygous||A|G|27|40.0|Non-synonymous|Line Propagating
5156086|IGL00954|5|73608398|T->K|0.9|Possibly damaging|MGI:2387634|Lrrc66|leucine rich repeat containing 66 [Source:MGI Symbol;Acc:MGI:2387634]|Heterozygous||G|T|26|35.0|Non-synonymous|Line Propagating
5156087|IGL00954|6|136840095|E->V|0.6|Possibly damaging|MGI:3605234|Bc049715|cDNA sequence BC049715 [Source:MGI Symbol;Acc:MGI:3605234]|Heterozygous||A|T|26|38.0|Non-synonymous|Line Propagating
5156088|IGL00954|12|112920406|S->R|0.29|Benign|MGI:1098270|Jag2|jagged 2 [Source:MGI Symbol;Acc:MGI:1098270]|Heterozygous|Homozygotes for a targeted null mutation die perinatally with craniofacial defects, fused digits, and increased numbers of sensory hair cells in the cochlea. Homozygotes for a spontaneous mutation exhibit fused digits and sometimes tail kinks.|G|T|24|38.0|Non-synonymous|Line Propagating
5156089|IGL00954|7|86800767|T->A|0.68|Possibly damaging|MGI:3643879|Vmn2r77|vomeronasal 2, receptor 77 [Source:MGI Symbol;Acc:MGI:3643879]|Heterozygous||A|G|24|40.0|Non-synonymous|Line Propagating
5156090|IGL00954|11|97744505|K->E|1.0|Probably damaging|MGI:1934234|Pip4k2b|phosphatidylinositol-5-phosphate 4-kinase, type II, beta [Source:MGI Symbol;Acc:MGI:1934234]|Heterozygous|Mice homozygous for disruptions in this gene are smallerthan normal with less body fat and an increased sensitivity to insulin.|T|C|23|39.0|Non-synonymous|Line Propagating
5156093|IGL00954|14|50916162|I->F|0.19|Benign|MGI:1913496|Osgep|O-sialoglycoprotein endopeptidase [Source:MGI Symbol;Acc:MGI:1913496]|Heterozygous||T|A|20|40.0|Non-synonymous|Line Propagating
5156094|IGL00954|18|40258800|D->G|0.28|Benign|MGI:1914659|Kctd16|potassium channel tetramerisation domain containing 16 [Source:MGI Symbol;Acc:MGI:1914659]|Heterozygous||A|G|20|35.0|Non-synonymous|Line Propagating
5156095|IGL00954|5|149696437|M->K||Benign|MGI:2685903|B3galtl|beta 1,3-galactosyltransferase-like [Source:MGI Symbol;Acc:MGI:2685903]|Heterozygous||T|A|19|41.0|Non-synonymous|Line Propagating
5156096|IGL00954|9|24582818|N->I|1.0|Probably damaging|MGI:2444662|Dpy19l2|dpy-19-like 2 (C. elegans) [Source:MGI Symbol;Acc:MGI:2444662]|Heterozygous||T|A|19|36.0|Non-synonymous|Line Propagating
5156097|IGL00954|1|119934209|E->G|1.0|Probably damaging|MGI:2684947|Gm101|predicted gene 101 [Source:MGI Symbol;Acc:MGI:2684947]|Heterozygous||T|C|18|37.0|Non-synonymous|Line Propagating
5156098|IGL00954|4|32645403|T->K|1.0|Probably damaging|MGI:1349399|Casp8ap2|caspase 8 associated protein 2 [Source:MGI Symbol;Acc:MGI:1349399]|Heterozygous||C|A|17|31.0|Non-synonymous|Line Propagating
5156099|IGL00954|13|56074319|S->P|0.85|Possibly damaging|MGI:1349392|H2afy|H2A histone family, member Y [Source:MGI Symbol;Acc:MGI:1349392]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and display no gross phenotypic abnormalities.|A|G|16|40.0|Non-synonymous|Line Propagating
5156100|IGL00954|15|66641908|V->I|0.74|Possibly damaging|MGI:2444412|Phf20l1|PHD finger protein 20-like 1 [Source:MGI Symbol;Acc:MGI:2444412]|Heterozygous||G|A|16|39.0|Non-synonymous|Line Propagating
5156101|IGL00954|2|134498261|I->T|0.44|Possibly damaging|MGI:96011|Hao1|hydroxyacid oxidase 1, liver [Source:MGI Symbol;Acc:MGI:96011]|Heterozygous|Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.|A|G|16|39.5|Non-synonymous|Line Propagating
5156102|IGL00954|13|3556467|V->A|0.02|Benign|MGI:99845|Gdi2|guanosine diphosphate (GDP) dissociation inhibitor 2 [Source:MGI Symbol;Acc:MGI:99845]|Heterozygous||T|C|15|40.0|Non-synonymous|Line Propagating
5156103|IGL00954|17|65500153|I->T|0.99|Probably damaging|MGI:2685786|Tmem232|transmembrane protein 232 [Source:MGI Symbol;Acc:MGI:2685786]|Heterozygous||A|G|15|40.0|Non-synonymous|Line Propagating
5156104|IGL00954|15|4903054|Y->F|0.98|Probably damaging|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||A|T|14|38.5|Non-synonymous|Line Propagating
5156105|IGL00954|17|21819879|Y->C|0.99|Probably damaging|MGI:1922674|Zfp820|zinc finger protein 820 [Source:MGI Symbol;Acc:MGI:1922674]|Heterozygous||T|C|14|39.0|Non-synonymous|Line Propagating
5156106|IGL00954|6|18381062|K->N|||MGI:1353467|Cttnbp2|cortactin binding protein 2 [Source:MGI Symbol;Acc:MGI:1353467]|Heterozygous||C|A|14|38.0|Non-synonymous|Line Propagating
5156107|IGL00954|10|79922000|L->P|1.0|Probably damaging|MGI:2148793|Kiss1r|KISS1 receptor [Source:MGI Symbol;Acc:MGI:2148793]|Heterozygous|Homozygote null mice are infertile with abnormal sexual maturation associated with hypogonadotropism|T|C|13|35.0|Non-synonymous|Line Propagating
5156108|IGL00954|6|116454299|V->D|1.0|Probably damaging|MGI:87999|Alox5|arachidonate 5-lipoxygenase [Source:MGI Symbol;Acc:MGI:87999]|Heterozygous||A|T|13|38.0|Non-synonymous|Line Propagating
5156109|IGL00954|11|95831083|V->E|1.0|Probably damaging|MGI:2447348|Phospho1|phosphatase, orphan 1 [Source:MGI Symbol;Acc:MGI:2447348]|Heterozygous|Mice homozygous for an ENU-induced mutation exhibit fractures, bowed long bones, osteomalacia, and scoliosis.|T|A|12|36.5|Non-synonymous|Line Propagating
5156110|IGL00954|14|30569095|H->Y|0.24|Benign|MGI:105992|Tkt|transketolase [Source:MGI Symbol;Acc:MGI:105992]|Heterozygous|Homozygotes for a targeted null mutation die at or before the morula stage. Heterozygotes show reduced growth, decreased fat accumulation, microphthalmia, and reduced female fertility.|C|T|10|36.5|Non-synonymous|Line Propagating
5156114|IGL00954|5|32298514|Disrupted splicing|||MGI:1922406|Plb1|phospholipase B1 [Source:MGI Symbol;Acc:MGI:1922406]|Heterozygous||T|C|37|41.0|Splice|Line Propagating
5156115|IGL00954|18|61839685|Disrupted splicing|||MGI:2442582|Ablim3|actin binding LIM protein family, member 3 [Source:MGI Symbol;Acc:MGI:2442582]|Heterozygous||C|T|29|39.0|Splice|Line Propagating
5156116|IGL00954|17|56578639|Disrupted splicing|||MGI:2146808|Safb2|scaffold attachment factor B2 [Source:MGI Symbol;Acc:MGI:2146808]|Heterozygous||A|G|14|39.0|Splice|Line Propagating
5157904|IGL00957|6|122040654|Y->C|0.99|Probably damaging|MGI:99836|Mug2|murinoglobulin 2 [Source:MGI Symbol;Acc:MGI:99836]|Heterozygous||A|G|86|40.0|Non-synonymous|Line Propagating
5157905|IGL00957|12|17787590|E->K||Benign|MGI:1855689|Hpcal1|hippocalcin-like 1 [Source:MGI Symbol;Acc:MGI:1855689]|Heterozygous||G|A|73|40.0|Non-synonymous|Line Propagating
5157907|IGL00957|7|127612724|V->M|0.4|Benign|MGI:2444524|Zfp629|zinc finger protein 629 [Source:MGI Symbol;Acc:MGI:2444524]|Heterozygous||C|T|55|39.0|Non-synonymous|Line Propagating
5157908|IGL00957|5|34806724|V->A||Unknown|MGI:96285|Htt|huntingtin [Source:MGI Symbol;Acc:MGI:96067]|Heterozygous|Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.|T|C|47|37.0|Non-synonymous|Line Propagating
5157909|IGL00957|13|3577101|I->F|0.2|Benign|MGI:2145274|Bc016423|cDNA sequence BC016423 [Source:MGI Symbol;Acc:MGI:2145274]|Heterozygous||T|A|41|39.0|Non-synonymous|Line Propagating
5157910|IGL00957|7|115777092|K->R|1.0|Probably damaging|MGI:98368|Sox6|SRY-box containing gene 6 [Source:MGI Symbol;Acc:MGI:98368]|Heterozygous|Homozygotes for null mutations exhibit cardioskeletal myopathy, cardiac blockage, delayed growth, and early postnatal lethality.|T|C|38|39.0|Non-synonymous|Line Propagating
5157911|IGL00957|1|82340641|Y->H|1.0|Probably damaging|MGI:1924117|Rhbdd1|rhomboid domain containing 1 [Source:MGI Symbol;Acc:MGI:1924117]|Heterozygous||T|C|32|39.0|Non-synonymous|Line Propagating
5157912|IGL00957|2|86356133|V->E||Benign|MGI:3030890|Olfr1056|olfactory receptor 1056 [Source:MGI Symbol;Acc:MGI:3030890]|Heterozygous||A|T|30|39.5|Non-synonymous|Line Propagating
5157913|IGL00957|1|34228407|V->I|0.06|Benign|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|G|A|27|37.0|Non-synonymous|Line Propagating
5157915|IGL00957|2|174427978|E->G|1.0|Probably damaging|MGI:1891190|Ctsz|cathepsin Z [Source:MGI Symbol;Acc:MGI:1891190]|Heterozygous|No abnormal pheotype detected in homozygous mutant mice.|T|C|24|39.0|Non-synonymous|Line Propagating
5157916|IGL00957|11|98685568|S->T|0.02|Benign|MGI:98858|Psmd3|proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 [Source:MGI Symbol;Acc:MGI:98858]|Heterozygous||T|A|23|37.0|Non-synonymous|Line Propagating
5157917|IGL00957|1|63534311|I->N|0.91|Possibly damaging|MGI:1345162|Adam23|a disintegrin and metallopeptidase domain 23 [Source:MGI Symbol;Acc:MGI:1345162]|Heterozygous|Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia.|T|A|21|37.0|Non-synonymous|Line Propagating
5157918|IGL00957|11|53280687|T->I|0.02|Benign|MGI:1342292|Hspa4|heat shock protein 4 [Source:MGI Symbol;Acc:MGI:1342292]|Heterozygous|Mice homozygous for a knock-out allele exhibit age-dependent neurofibrillary tangles and tau deposits, impaired contextual conditioning, and impaired bar grasping.|G|A|21|40.0|Non-synonymous|Line Propagating
5157919|IGL00957|17|67632504|S->L||Benign|MGI:2685172|Lrrc30|leucine rich repeat containing 30 [Source:MGI Symbol;Acc:MGI:2685172]|Heterozygous||G|A|19|40.0|Non-synonymous|Line Propagating
5157920|IGL00957|4|126517133|V->I|0.84|Possibly damaging|MGI:1924100|Eif2c4|eukaryotic translation initiation factor 2C, 4 [Source:MGI Symbol;Acc:MGI:1924100]|Heterozygous||C|T|19|35.0|Non-synonymous|Line Propagating
5157921|IGL00957|11|97099094|V->A|0.61|Possibly damaging|MGI:1888984|Tbx21|T-box 21 [Source:MGI Symbol;Acc:MGI:1888984]|Heterozygous|Mice homozygous for disruptions in this gene display defects in the production of NK and NK-T cells.|A|G|18|37.5|Non-synonymous|Line Propagating
5157922|IGL00957|2|76738936|D->E||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|G|T|16|41.0|Non-synonymous|Line Propagating
5157923|IGL00957|1|14881668|Y->N|0.96|Probably damaging|MGI:3522699|Trpa1|transient receptor potential cation channel, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:3522699]|Heterozygous||A|T|15|38.0|Non-synonymous|Line Propagating
5157924|IGL00957|1|134203213|L->P|1.0|Probably damaging|MGI:99401|Adora1|adenosine A1 receptor [Source:MGI Symbol;Acc:MGI:99401]|Heterozygous|Mice homozygous for a null allele show anxiety, hyperalgesia, allodynia, and altered neuronal and brainstem respiratory activity upon hypoxia. Mice homozygous for another null allele show increased susceptibility to kidney reperfusion injury and fail to display bradycardia in response to 5'-AMP.|A|G|14|37.0|Non-synonymous|Line Propagating
5157925|IGL00957|11|31873204|Y->C|0.76|Possibly damaging|MGI:1914829|Cpeb4|cytoplasmic polyadenylation element binding protein 4 [Source:MGI Symbol;Acc:MGI:1914829]|Heterozygous||A|G|12|37.5|Non-synonymous|Line Propagating
5157926|IGL00957|1|6249539|A->T|0.98|Probably damaging|MGI:1341850|Rb1cc1|RB1-inducible coiled-coil 1 [Source:MGI Symbol;Acc:MGI:1341850]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration.|G|A|10|40.0|Non-synonymous|Line Propagating
5157931|IGL00957|1|86356369|Disrupted splicing|||MGI:97286|Ncl|nucleolin [Source:MGI Symbol;Acc:MGI:97286]|Heterozygous||A|G|212|37.0|Splice|Line Propagating
5157932|IGL00957|6|35539612|Disrupted splicing|||MGI:99445|Mtpn|myotrophin [Source:MGI Symbol;Acc:MGI:99445]|Heterozygous||A|G|66|36.0|Splice|Line Propagating
5157933|IGL00957|6|83048766|Disrupted splicing|||MGI:1337004|Loxl3|lysyl oxidase-like 3 [Source:MGI Symbol;Acc:MGI:1337004]|Heterozygous||A|G|41|37.0|Splice|Line Propagating
5157934|IGL00957|5|31038935|Disrupted splicing|||MGI:2660847|Slc5a6|solute carrier family 5 (sodium-dependent vitamin transporter), member 6 [Source:MGI Symbol;Acc:MGI:2660847]|Heterozygous||T|C|32|39.5|Splice|Line Propagating
5157935|IGL00957|10|58529016|Disrupted splicing|||MGI:1923388|Ccdc138|coiled-coil domain containing 138 [Source:MGI Symbol;Acc:MGI:1923388]|Heterozygous||T|A|24|39.0|Splice|Line Propagating
5157936|IGL00957|3|10250213|Disrupted splicing|||MGI:1922747|Fabp12|fatty acid binding protein 12 [Source:MGI Symbol;Acc:MGI:1922747]|Heterozygous||C|T|17|41.0|Splice|Line Propagating
5158546|IGL00958|2|36376916|I->V|0.96|Probably damaging|MGI:3030172|Olfr338|olfactory receptor 338 [Source:MGI Symbol;Acc:MGI:3030172]|Heterozygous||A|G|145|40.0|Non-synonymous|Line Propagating
5158547|IGL00958|7|140638256|L->H|1.0|Probably damaging|MGI:1333885|Olfr61|olfactory receptor 61 [Source:MGI Symbol;Acc:MGI:1333885]|Heterozygous||T|A|131|37.0|Non-synonymous|Line Propagating
5158549|IGL00958|10|22370892|T->A|0.91|Possibly damaging|MGI:1861032|Raet1d|retinoic acid early transcript delta [Source:MGI Symbol;Acc:MGI:1861032]|Heterozygous||A|G|39|40.0|Non-synonymous|Line Propagating
5158550|IGL00958|9|38673024|V->A||Benign|MGI:3030752|Olfr918|olfactory receptor 918 [Source:MGI Symbol;Acc:MGI:3030752]|Heterozygous||A|G|36|39.0|Non-synonymous|Line Propagating
5158551|IGL00958|3|101003702|D->G|1.0|Probably damaging|MGI:2685862|Cd101|CD101 antigen [Source:MGI Symbol;Acc:MGI:2685862]|Heterozygous||T|C|32|39.0|Non-synonymous|Line Propagating
5158552|IGL00958|10|29227328|R->M|1.0|Probably damaging|MGI:3036239|9330159f19rik|RIKEN cDNA 9330159F19 gene [Source:MGI Symbol;Acc:MGI:3036239]|Heterozygous||G|T|27|40.0|Non-synonymous|Line Propagating
5158553|IGL00958|19|13705732|V->I||Benign|MGI:3031325|Olfr1491|olfactory receptor 1491 [Source:MGI Symbol;Acc:MGI:3031325]|Heterozygous||G|A|27|41.0|Non-synonymous|Line Propagating
5158554|IGL00958|11|118333904|T->I|0.96|Probably damaging|MGI:1929713, MGI:98753|Bc100451,timp2|tissue inhibitor of metalloproteinase 2 [Source:MGI Symbol;Acc:MGI:98753],cDNA sequence BC100451 [Source:MGI Symbol;Acc:MGI:1929713]|Heterozygous|NO_PHENOTYPE,Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.|G|A|26|40.0|Non-synonymous|Line Propagating
5158555|IGL00958|8|60671482|I->V|0.36|Benign|MGI:1918556|Mfap3l|microfibrillar-associated protein 3-like [Source:MGI Symbol;Acc:MGI:1918556]|Heterozygous||A|G|26|40.5|Non-synonymous|Line Propagating
5158557|IGL00958|12|15793633|E->G|0.34|Benign|MGI:2145021|Trib2|tribbles homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2145021]|Heterozygous|Mice homozygous for a knockout allele exhibit normal development and kidney morphology and physiology.|T|C|23|39.0|Non-synonymous|Line Propagating
5158558|IGL00958|5|120532984|L->P|0.99|Probably damaging|MGI:2180781|Slc24a6|solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 [Source:MGI Symbol;Acc:MGI:2180781]|Heterozygous||T|C|20|39.5|Non-synonymous|Line Propagating
5158559|IGL00958|2|111489220|Stop->Q||N/A|MGI:3031124|Olfr1290|olfactory receptor 1290 [Source:MGI Symbol;Acc:MGI:3031124]|Heterozygous||A|G|19|40.0|Non-synonymous|Line Propagating
5158560|IGL00958|7|104059413|Y->C|0.09|Benign|MGI:3030477|Olfr643|olfactory receptor 643 [Source:MGI Symbol;Acc:MGI:3030477]|Heterozygous||T|C|19|41.0|Non-synonymous|Line Propagating
5158562|IGL00958|11|96909967|N->D|0.84|Possibly damaging|MGI:1933126|Cdk5rap3|CDK5 regulatory subunit associated protein 3 [Source:MGI Symbol;Acc:MGI:1933126]|Heterozygous||T|C|16|39.5|Non-synonymous|Line Propagating
5158563|IGL00958|13|76122745|Y->H|||MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||T|C|16|39.0|Non-synonymous|Line Propagating
5158564|IGL00958|14|51713812|L->P|1.0|Probably damaging|MGI:3648769|Gm5800|predicted gene 5800 [Source:MGI Symbol;Acc:MGI:3648769]|Heterozygous||A|G|16|41.0|Non-synonymous|Line Propagating
5158565|IGL00958|11|58954940|G->V|1.0|Probably damaging|MGI:2448458|Hist3h2a|histone cluster 3, H2a [Source:MGI Symbol;Acc:MGI:2448458]|Heterozygous||G|T|15|39.0|Non-synonymous|Line Propagating
5158566|IGL00958|17|44037017|V->I|1.0|Probably damaging|MGI:1858219|Rcan2|regulator of calcineurin 2 [Source:MGI Symbol;Acc:MGI:1858219]|Heterozygous|Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity.|G|A|15|37.0|Non-synonymous|Line Propagating
5158567|IGL00958|1|45327595|S->A||Unknown|MGI:88453|Col3a1|collagen, type III, alpha 1 [Source:MGI Symbol;Acc:MGI:88453]|Heterozygous|Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death.|T|G|12|39.5|Non-synonymous|Line Propagating
5158570|IGL00958|12|13240848|Disrupted splicing|||MGI:2144727|Ddx1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 [Source:MGI Symbol;Acc:MGI:2144727]|Heterozygous||T|C|63|37.0|Splice|Line Propagating
5158571|IGL00958|7|25307357|Disrupted splicing|||MGI:3607779|Tmem145|transmembrane protein 145 [Source:MGI Symbol;Acc:MGI:3607779]|Heterozygous||T|G|52|40.0|Splice|Line Propagating
5158572|IGL00958|5|31298785|Disrupted splicing|||MGI:1096345|Gckr|glucokinase regulatory protein [Source:MGI Symbol;Acc:MGI:1096345]|Heterozygous|Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis.|A|T|34|37.0|Splice|Line Propagating
5158573|IGL00958|4|141248983|Disrupted splicing|||MGI:1925912|Arhgef19|Rho guanine nucleotide exchange factor (GEF) 19 [Source:MGI Symbol;Acc:MGI:1925912]|Heterozygous||T|C|27|37.0|Splice|Line Propagating
5158574|IGL00958|1|171277880|Disrupted splicing|||MGI:104968|Ppox|protoporphyrinogen oxidase [Source:MGI Symbol;Acc:MGI:104968]|Heterozygous||A|G|22|37.0|Splice|Line Propagating
5158575|IGL00958|3|96699422|Disrupted splicing|||MGI:1913126|Pias3|protein inhibitor of activated STAT 3 [Source:MGI Symbol;Acc:MGI:1913126]|Heterozygous||C|T|11|37.0|Splice|Line Propagating
5159167|IGL00959|7|7241856|W->R||Benign|MGI:1923479|Vmn2r29|vomeronasal 2, receptor 29 [Source:MGI Symbol;Acc:MGI:1923479]|Heterozygous||A|G|128|41.0|Non-synonymous|Line Propagating
5159168|IGL00959|5|87411823|N->K|1.0|Probably damaging|MGI:2140794|Ugt2b38|UDP glucuronosyltransferase 2 family, polypeptide B38 [Source:MGI Symbol;Acc:MGI:2140794]|Heterozygous||A|T|90|40.0|Non-synonymous|Line Propagating
5159169|IGL00959|1|186704587|V->A|0.47|Possibly damaging|MGI:98726|Tgfb2|transforming growth factor, beta 2 [Source:MGI Symbol;Acc:MGI:98726]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa.|A|G|56|35.0|Non-synonymous|Line Propagating
5159171|IGL00959|14|65076912|V->I|0.01|Benign|MGI:1860765|Extl3|exostoses (multiple)-like 3 [Source:MGI Symbol;Acc:MGI:1860765]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides.|C|T|41|39.0|Non-synonymous|Line Propagating
5159172|IGL00959|9|108681999|M->R|0.78|Possibly damaging|MGI:1928738|Slc25a20|solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 [Source:MGI Symbol;Acc:MGI:1928738]|Heterozygous||T|G|41|41.0|Non-synonymous|Line Propagating
5159173|IGL00959|7|14254709|Y->C|1.0|Probably damaging|MGI:3648915|Sult2a6|sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 6 [Source:MGI Symbol;Acc:MGI:3648915]|Heterozygous||T|C|40|39.0|Non-synonymous|Line Propagating
5159174|IGL00959|11|69166243|H->L|0.96|Probably damaging|MGI:1274782|Alox12b|arachidonate 12-lipoxygenase, 12R type [Source:MGI Symbol;Acc:MGI:1274782]|Heterozygous|Neonatal homozygous mutant mice exhibit reddened skin that quickly dehydrates and appears scaly. The epidermis is hyperkeratotic, and its permeability barrier function is compromised. Homozygotes die within 24 hours of birth.|A|T|39|39.0|Non-synonymous|Line Propagating
5159175|IGL00959|10|78583905|D->N|1.0|Probably damaging|MGI:1351911|Ilvbl|ilvB (bacterial acetolactate synthase)-like [Source:MGI Symbol;Acc:MGI:1351911]|Heterozygous||G|A|38|39.0|Non-synonymous|Line Propagating
5159176|IGL00959|10|76614534|I->F|0.82|Possibly damaging|MGI:88460|Col6a2|collagen, type VI, alpha 2 [Source:MGI Symbol;Acc:MGI:88460]|Heterozygous||T|A|34|38.5|Non-synonymous|Line Propagating
5159177|IGL00959|2|155581951|D->V|1.0|Probably damaging|MGI:95852|Gss|glutathione synthetase [Source:MGI Symbol;Acc:MGI:95852]|Heterozygous||T|A|31|37.0|Non-synonymous|Line Propagating
5159178|IGL00959|5|25276229|I->F|0.99|Probably damaging|MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|T|A|28|40.0|Non-synonymous|Line Propagating
5159179|IGL00959|14|54427037|V->A|0.88|Possibly damaging|MGI:1916086|Mrpl52|mitochondrial ribosomal protein L52 [Source:MGI Symbol;Acc:MGI:1916086]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
5159180|IGL00959|15|6824605|I->V|0.01|Benign|MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|T|C|25|40.0|Non-synonymous|Line Propagating
5159181|IGL00959|2|70314292|Y->C|1.0|Probably damaging|MGI:2448580|Myo3b|myosin IIIB [Source:MGI Symbol;Acc:MGI:2448580]|Heterozygous||A|G|25|37.0|Non-synonymous|Line Propagating
5159182|IGL00959|10|33528463|M->I|0.06|Benign|MGI:2443223|Clvs2|clavesin 2 [Source:MGI Symbol;Acc:MGI:2443223]|Heterozygous||C|T|22|37.0|Non-synonymous|Line Propagating
5159183|IGL00959|1|116184327|L->Q||Benign|MGI:3643623|Cntnap5a|contactin associated protein-like 5A [Source:MGI Symbol;Acc:MGI:3643623]|Heterozygous||T|A|20|38.5|Non-synonymous|Line Propagating
5159184|IGL00959|10|129112024|M->L|0.47|Possibly damaging|MGI:3030603|Olfr769|olfactory receptor 769 [Source:MGI Symbol;Acc:MGI:3030603]|Heterozygous||T|A|19|39.0|Non-synonymous|Line Propagating
5159185|IGL00959|12|16978055|N->K|0.8|Possibly damaging|MGI:107926|Rock2|Rho-associated coiled-coil containing protein kinase 2 [Source:MGI Symbol;Acc:MGI:107926]|Heterozygous|Mice homozygous for disruptions in this genes tend to die before birth those that survive are small. Hemorrhaging occurs in the placenta, at the tips of hind limb buds and occasionally the tail. Subsequent development is normal and the size deficit is made up. They are fertile as adults.|C|A|18|38.5|Non-synonymous|Line Propagating
5159186|IGL00959|7|98145150|D->G|1.0|Probably damaging|MGI:97436, MGI:1100859|Omp,capn5|olfactory marker protein [Source:MGI Symbol;Acc:MGI:97436],calpain 5 [Source:MGI Symbol;Acc:MGI:1100859]|Heterozygous|Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos.,Mice lacking both copies of the coding sequence for this gene exhibit no overt phenotype.|T|C|17|35.0|Non-synonymous|Line Propagating
5159187|IGL00959|5|96781281|R->H|1.0|Probably damaging|MGI:2385368|Fras1|Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.|G|A|16|39.0|Non-synonymous|Line Propagating
5159188|IGL00959|19|39038143|D->G||Benign|MGI:1919332|Cyp2c55|cytochrome P450, family 2, subfamily c, polypeptide 55 [Source:MGI Symbol;Acc:MGI:1919332]|Heterozygous||A|G|15|41.0|Non-synonymous|Line Propagating
5159189|IGL00959|6|32968253|V->A|0.04|Benign|MGI:1913325|Chchd3|coiled-coil-helix-coiled-coil-helix domain containing 3 [Source:MGI Symbol;Acc:MGI:1913325]|Heterozygous||A|G|15|38.0|Non-synonymous|Line Propagating
5159190|IGL00959|1|58239174|V->F|0.99|Probably damaging|MGI:1919122|Aox4|aldehyde oxidase 4 [Source:MGI Symbol;Acc:MGI:1919122]|Heterozygous|Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment.|G|T|14|41.0|Non-synonymous|Line Propagating
5159191|IGL00959|14|28522909|T->M|0.91|Possibly damaging|MGI:98958|Wnt5a|wingless-related MMTV integration site 5A [Source:MGI Symbol;Acc:MGI:98958]|Heterozygous|Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally.|C|T|14|40.0|Non-synonymous|Line Propagating
5159192|IGL00959|1|59815315|I->F|0.89|Possibly damaging|MGI:1095407|Bmpr2|bone morphogenic protein receptor, type II (serine/threonine kinase) [Source:MGI Symbol;Acc:MGI:1095407]|Heterozygous|Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm.|A|T|13|40.0|Non-synonymous|Line Propagating
5159193|IGL00959|12|25051133|S->R|0.2|Benign|MGI:1924730|Kidins220|kinase D-interacting substrate 220 [Source:MGI Symbol;Acc:MGI:1924730]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons.|T|A|13|39.0|Non-synonymous|Line Propagating
5159194|IGL00959|9|86487431|Y->N|1.0|Probably damaging|MGI:1289294|Dopey1|dopey family member 1 [Source:MGI Symbol;Acc:MGI:1289294]|Heterozygous||T|A|11|41.0|Non-synonymous|Line Propagating
5159195|IGL00959|11|116842376|D->E|0.48|Possibly damaging|MGI:1858910|Jmjd6|jumonji domain containing 6 [Source:MGI Symbol;Acc:MGI:1858910]|Heterozygous|Mice homozygous for disruptions in this gene show perinatal lethality. Abnormalities are observed in the nervous. respiratory, cardiovascular, digestive, renal, hematopoietic, and immune systems.|A|T|10|39.5|Non-synonymous|Line Propagating
5159200|IGL00959|19|10477523|Disrupted splicing|||MGI:1915002|4930579j09rik|RIKEN cDNA 4930579J09 gene [Source:MGI Symbol;Acc:MGI:1915002]|Heterozygous||A|T|59|39.0|Splice|Line Propagating
5159201|IGL00959|7|81169068|Disrupted splicing|||MGI:3605073|Slc28a1|solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 [Source:MGI Symbol;Acc:MGI:3605073]|Heterozygous||T|C|39|35.0|Splice|Line Propagating
5159202|IGL00959|11|84148622|Disrupted splicing|||MGI:3650287|Gm11437|predicted gene 11437 [Source:MGI Symbol;Acc:MGI:3650287]|Heterozygous||A|C|22|40.0|Splice|Line Propagating
5159203|IGL00959|17|20961578|Disrupted splicing|||MGI:1926334|Ppp2r1a|protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform [Source:MGI Symbol;Acc:MGI:1926334]|Heterozygous||A|T|21|38.0|Splice|Line Propagating
5159204|IGL00959|1|58729162|Disrupted splicing|||MGI:1336166|Cflar|CASP8 and FADD-like apoptosis regulator [Source:MGI Symbol;Acc:MGI:1336166]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality by E10.5. Mutant embryos exhibit cardiac developmental abnormalities and pooling of blood in the head and abdominal regions.|G|A|13|39.0|Splice|Line Propagating
5159205|IGL00959|9|24423197|Disrupted splicing|||MGI:1915685|Dpy19l1|dpy-19-like 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1915685]|Heterozygous||A|T|13|39.0|Splice|Line Propagating
5159206|IGL00959|5|103517571|Disrupted splicing|||MGI:103293|Ptpn13|protein tyrosine phosphatase, non-receptor type 13 [Source:MGI Symbol;Acc:MGI:103293]|Heterozygous|Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.|T|A|11|38.0|Splice|Line Propagating
5159207|IGL00959|1|139143888|Disrupted splicing|||MGI:2447812|Dennd1b|DENN/MADD domain containing 1B [Source:MGI Symbol;Acc:MGI:2447812]|Heterozygous||T|C|10|39.5|Splice|Line Propagating
5159785|IGL00960|18|37355973|I->F|0.99|Probably damaging|MGI:2136742|Pcdhb8|protocadherin beta 8 [Source:MGI Symbol;Acc:MGI:2136742]|Heterozygous||A|T|96|36.0|Non-synonymous|Line Propagating
5159786|IGL00960|7|85624374|S->C|1.0|Probably damaging|MGI:3646472|Vmn2r71|vomeronasal 2, receptor 71 [Source:MGI Symbol;Acc:MGI:3646472]|Heterozygous||A|T|82|40.0|Non-synonymous|Line Propagating
5159787|IGL00960|2|53123482|D->G|0.06|Benign|MGI:1918659|Fmnl2|formin-like 2 [Source:MGI Symbol;Acc:MGI:1918659]|Heterozygous||A|G|66|39.0|Non-synonymous|Line Propagating
5159788|IGL00960|10|52543947|Y->H|0.22|Benign|MGI:99153|Zfa|zinc finger protein, autosomal [Source:MGI Symbol;Acc:MGI:99153]|Heterozygous|Male homozygous null were fertile and showed no spermatogenic or testicular defects.|A|G|57|40.0|Non-synonymous|Line Propagating
5159790|IGL00960|16|35841219|D->G|0.04|Benign|MGI:1919489|Parp14|poly (ADP-ribose) polymerase family, member 14 [Source:MGI Symbol;Acc:MGI:1919489]|Heterozygous||T|C|52|39.0|Non-synonymous|Line Propagating
5159791|IGL00960|9|32322423|T->S|1.0|Probably damaging|MGI:104755|Kcnj5|potassium inwardly-rectifying channel, subfamily J, member 5 [Source:MGI Symbol;Acc:MGI:104755]|Heterozygous|Homozygotes for a targeted null mutation exhibit mild resting tachycardias and reduced muscarinic-gated atrial potassium channel responses to pharmacological stimulation.|T|A|41|36.0|Non-synonymous|Line Propagating
5159792|IGL00960|5|14675220|V->A||Benign|MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|T|C|39|40.0|Non-synonymous|Line Propagating
5159793|IGL00960|5|137571692|V->A|0.07|Benign|MGI:1354956|Trfr2|transferrin receptor 2 [Source:MGI Symbol;Acc:MGI:1354956]|Heterozygous|Homozygous mutant mice exhibit iron homeostasis defects similar to those observed in human hemachromatosis. On a standard diet, mutant mice show periportal hepatic iron loading, splenic iron sparing, and elevated serum transferrin saturations.|T|C|39|36.0|Non-synonymous|Line Propagating
5159794|IGL00960|11|119999292|S->T||Benign|MGI:2137336|Baiap2|brain-specific angiogenesis inhibitor 1-associated protein 2 [Source:MGI Symbol;Acc:MGI:2137336]|Heterozygous|Homozygous mice show enhanced NMDA receptor-mediated synaptic transmission, enhanced long-term potentiation, and impaired learning and memory.|T|A|36|36.0|Non-synonymous|Line Propagating
5159796|IGL00960|17|46323745|R->L|0.74|Possibly damaging|MGI:2386976|Abcc10|ATP-binding cassette, sub-family C (CFTR/MRP), member 10 [Source:MGI Symbol;Acc:MGI:2386976]|Heterozygous|Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells.|C|A|32|40.0|Non-synonymous|Line Propagating
5159797|IGL00960|6|83775668|I->N|0.42|Benign|MGI:1096575|Tex261|testis expressed gene 261 [Source:MGI Symbol;Acc:MGI:1096575]|Heterozygous||A|T|31|39.0|Non-synonymous|Line Propagating
5159798|IGL00960|10|88921765|I->S|0.1|Benign|MGI:2384916|Slc5a8|solute carrier family 5 (iodide transporter), member 8 [Source:MGI Symbol;Acc:MGI:2384916]|Heterozygous|Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine.|T|G|30|40.0|Non-synonymous|Line Propagating
5159799|IGL00960|9|39956159|Y->H|1.0|Probably damaging|MGI:3030810|Olfr976|olfactory receptor 976 [Source:MGI Symbol;Acc:MGI:3030810]|Heterozygous||A|G|30|37.5|Non-synonymous|Line Propagating
5159801|IGL00960|5|72577285|T->I|1.0|Probably damaging|MGI:2180337|Zar1|zygote arrest 1 [Source:MGI Symbol;Acc:MGI:2180337]|Heterozygous|Ovarian development and oogenesis are normal in homozygous null females, however they are infertile due to a failure at the oocyte to embryo transition.|G|A|25|39.0|Non-synonymous|Line Propagating
5159802|IGL00960|14|103229384|H->Q|0.96|Probably damaging|MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|G|T|23|40.0|Non-synonymous|Line Propagating
5159803|IGL00960|5|53701292|Y->H|1.0|Probably damaging|MGI:99478|Cckar|cholecystokinin A receptor [Source:MGI Symbol;Acc:MGI:99478]|Heterozygous|Homozygous mutant mice cannot regulate core body temperature in response to changes in ambient temperature.|A|G|19|40.0|Non-synonymous|Line Propagating
5159804|IGL00960|16|37060512|S->P|0.98|Probably damaging|MGI:2155399|Polq|polymerase (DNA directed), theta [Source:MGI Symbol;Acc:MGI:2155399]|Heterozygous|Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage.|T|C|18|39.0|Non-synonymous|Line Propagating
5159805|IGL00960|19|40711270|P->S|0.1|Benign|MGI:102805|Entpd1|ectonucleoside triphosphate diphosphohydrolase 1 [Source:MGI Symbol;Acc:MGI:102805]|Heterozygous|Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation.|C|T|17|40.0|Non-synonymous|Line Propagating
5159806|IGL00960|5|66289503|Y->C||Benign|MGI:1918168|Nsun7|NOL1/NOP2/Sun domain family, member 7 [Source:MGI Symbol;Acc:MGI:1918168]|Heterozygous|Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath.|A|G|17|40.0|Non-synonymous|Line Propagating
5159807|IGL00960|9|42359080|F->L|0.99|Probably damaging|MGI:109575|Tecta|tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]|Heterozygous|Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.|A|G|17|39.0|Non-synonymous|Line Propagating
5159809|IGL00960|10|127064297|Y->C|1.0|Probably damaging|MGI:88357|Cdk4|cyclin-dependent kinase 4 [Source:MGI Symbol;Acc:MGI:88357]|Heterozygous|Homozygous null mutants have small size, insulin-deficient diabetes, sterility in females; near-sterility in males and impaired prolactin secretion due to hypoplastic pituitary development. Locomotor and endocrine gland defects are seen with some alleles.|A|G|15|34.0|Non-synonymous|Line Propagating
5159810|IGL00960|11|67064038|Stop->Q||N/A|MGI:106362|Sco1|SCO cytochrome oxidase deficient homolog 1 (yeast) [Source:MGI Symbol;Acc:MGI:106362]|Heterozygous||T|C|11|32.0|Non-synonymous|Line Propagating
5159811|IGL00960|6|125173848|S->T||Benign|MGI:1915548|Ncapd2|non-SMC condensin I complex, subunit D2 [Source:MGI Symbol;Acc:MGI:1915548]|Heterozygous||A|T|11|37.0|Non-synonymous|Line Propagating
5159812|IGL00960|11|79445121|S->P|0.98|Probably damaging|MGI:97306|Nf1|neurofibromatosis 1 [Source:MGI Symbol;Acc:MGI:97306]|Heterozygous|Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits.|T|C|10|40.0|Non-synonymous|Line Propagating
5159813|IGL00960|17|12425610|I->N|0.99|Probably damaging|MGI:1333817|Slc22a3|solute carrier family 22 (organic cation transporter), member 3 [Source:MGI Symbol;Acc:MGI:1333817]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|T|10|40.0|Non-synonymous|Line Propagating
5159817|IGL00960|11|86291040|Disrupted splicing|||MGI:3029632|Med13|mediator complex subunit 13 [Source:MGI Symbol;Acc:MGI:3029632]|Heterozygous||T|C|20|40.0|Splice|Line Propagating
5159818|IGL00960|2|69694653|Disrupted splicing|||MGI:2444596|Fastkd1|FAST kinase domains 1 [Source:MGI Symbol;Acc:MGI:2444596]|Heterozygous||A|T|18|40.0|Splice|Line Propagating
5159819|IGL00960|4|136951839|Disrupted splicing|||MGI:109378|Epha8|Eph receptor A8 [Source:MGI Symbol;Acc:MGI:109378]|Heterozygous|Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord.|A|T|11|40.0|Splice|Line Propagating
5160401|IGL00961|3|64715813|E->G|0.28|Benign|MGI:2441693|Vmn2r7|vomeronasal 2, receptor 7 [Source:MGI Symbol;Acc:MGI:2441693]|Heterozygous||T|C|148|41.0|Non-synonymous|Line Propagating
5160403|IGL00961|12|90204546|I->L|0.04|Benign|MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|A|T|74|39.0|Non-synonymous|Line Propagating
5160404|IGL00961|10|70961157|I->T|0.99|Probably damaging|MGI:1933388|Bicc1|bicaudal C homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1933388]|Heterozygous|Homozygous mutant mice display polycystic kidneys with distended abdomens, abnormal bile duct morphology, and die either postnatally or shortly after weaning.|A|G|67|40.0|Non-synonymous|Line Propagating
5160405|IGL00961|1|93621313|E->V|0.17|Benign|MGI:2385126|Farp2|FERM, RhoGEF and pleckstrin domain protein 2 [Source:MGI Symbol;Acc:MGI:2385126]|Heterozygous|Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL|A|T|47|38.0|Non-synonymous|Line Propagating
5160407|IGL00961|5|140899709|M->K|0.6|Possibly damaging|MGI:1916978|Card11|caspase recruitment domain family, member 11 [Source:MGI Symbol;Acc:MGI:1916978]|Heterozygous|Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes.|A|T|42|39.0|Non-synonymous|Line Propagating
5160408|IGL00961|4|11599699|I->T|1.0|Probably damaging|MGI:3605986|Rad54b|RAD54 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3605986]|Heterozygous||T|C|40|41.0|Non-synonymous|Line Propagating
5160409|IGL00961|6|48834070|I->F|0.16|Benign|MGI:1916348|Tmem176b|transmembrane protein 176B [Source:MGI Symbol;Acc:MGI:1916348]|Heterozygous|Most mice homozygous for a knock-out allele exhibit severe sporadic ataxia and a small cerebellum associated with abnormal cerebellar lobulation, loss of the internal granule cell layer, poor formation of the external germinal layer, and disorganized Purkinje cells.|T|A|38|35.0|Non-synonymous|Line Propagating
5160410|IGL00961|5|138298349|K->E||Benign|MGI:1355311|Stag3|stromal antigen 3 [Source:MGI Symbol;Acc:MGI:1355311]|Heterozygous||A|G|35|38.0|Non-synonymous|Line Propagating
5160411|IGL00961|2|166585736|Q->K|0.57|Possibly damaging|MGI:3040696|Prex1|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 [Source:MGI Symbol;Acc:MGI:3040696]|Heterozygous||G|T|31|39.0|Non-synonymous|Line Propagating
5160413|IGL00961|7|73444249|S->P|0.99|Probably damaging|MGI:2448567|Chd2|chromodomain helicase DNA binding protein 2 [Source:MGI Symbol;Acc:MGI:2448567]|Heterozygous|Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects.|A|G|25|40.0|Non-synonymous|Line Propagating
5160414|IGL00961|10|18611237|I->F|1.0|Probably damaging|MGI:106387|D10bwg1379e|DNA segment, Chr 10, Brigham & Women's Genetics 1379 expressed [Source:MGI Symbol;Acc:MGI:106387]|Heterozygous||T|A|24|39.0|Non-synonymous|Line Propagating
5160415|IGL00961|14|57822124|I->M|0.13|Benign|MGI:3041235|F630043a04rik|RIKEN cDNA F630043A04 gene [Source:MGI Symbol;Acc:MGI:3041235]|Heterozygous||T|C|24|37.5|Non-synonymous|Line Propagating
5160416|IGL00961|10|127750690|V->I|0.05|Benign|MGI:109545|Gpr182|G protein-coupled receptor 182 [Source:MGI Symbol;Acc:MGI:109545]|Heterozygous||C|T|23|40.0|Non-synonymous|Line Propagating
5160418|IGL00961|1|74490155|T->A||Benign|MGI:2442483|Usp37|ubiquitin specific peptidase 37 [Source:MGI Symbol;Acc:MGI:2442483]|Heterozygous||T|C|20|40.5|Non-synonymous|Line Propagating
5160419|IGL00961|1|75530266|R->C|1.0|Probably damaging|MGI:1918978|Stk11ip|serine/threonine kinase 11 interacting protein [Source:MGI Symbol;Acc:MGI:1918978]|Heterozygous||C|T|20|37.0|Non-synonymous|Line Propagating
5160420|IGL00961|4|115920006|V->E||Benign|MGI:2153518|Dmbx1|diencephalon/mesencephalon homeobox 1 [Source:MGI Symbol;Acc:MGI:2153518]|Heterozygous|Mice homozygous for one null allele display partial postnatal lethality, impaired suckling and postnatal growth, and reduced female fertility. When raised in isolation, mice homozygous for another null allele exhibit decreased body weight, decreased food consumption, and small adipocytes.|A|T|20|35.0|Non-synonymous|Line Propagating
5160421|IGL00961|3|84497788|V->A|0.01|Benign|MGI:1277120|Arfip1|ADP-ribosylation factor interacting protein 1 [Source:MGI Symbol;Acc:MGI:1277120]|Heterozygous||A|G|19|39.0|Non-synonymous|Line Propagating
5160422|IGL00961|13|71959957|D->G|0.75|Possibly damaging|MGI:1197515|Irx1|Iroquois related homeobox 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1197515]|Heterozygous||T|C|18|35.0|Non-synonymous|Line Propagating
5160424|IGL00961|1|23848274|N->S||Benign|MGI:2138261|Smap1|stromal membrane-associated protein 1 [Source:MGI Symbol;Acc:MGI:2138261]|Heterozygous||T|C|17|36.0|Non-synonymous|Line Propagating
5160426|IGL00961|6|134507646|D->G|0.99|Probably damaging|MGI:1298218|Lrp6|low density lipoprotein receptor-related protein 6 [Source:MGI Symbol;Acc:MGI:1298218]|Heterozygous|Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae.|T|C|16|38.5|Non-synonymous|Line Propagating
5160427|IGL00961|2|52477712|I->F|0.07|Benign|MGI:103301|Cacnb4|calcium channel, voltage-dependent, beta 4 subunit [Source:MGI Symbol;Acc:MGI:103301]|Heterozygous|Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency.|T|A|15|40.0|Non-synonymous|Line Propagating
5160428|IGL00961|3|159523814|N->K|0.06|Benign|MGI:1923381|Depdc1a|DEP domain containing 1a [Source:MGI Symbol;Acc:MGI:1923381]|Heterozygous||T|A|11|40.0|Non-synonymous|Line Propagating
5162852|IGL00965|5|109156098|F->L|1.0|Probably damaging|MGI:3761379|Vmn2r13|vomeronasal 2, receptor 13 [Source:MGI Symbol;Acc:MGI:3761379]|Heterozygous||A|C|68|40.0|Non-synonymous|Line Propagating
5162854|IGL00965|5|149630804|I->N|1.0|Probably damaging|MGI:105053|Hsph1|heat shock 105kDa/110kDa protein 1 [Source:MGI Symbol;Acc:MGI:105053]|Heterozygous||A|T|58|38.5|Non-synonymous|Line Propagating
5162856|IGL00965|8|83937703|T->I|0.66|Possibly damaging|MGI:1929461|Lphn1|latrophilin 1 [Source:MGI Symbol;Acc:MGI:1929461]|Heterozygous|Mice homozygous for a targeted null allele at this locus are viable and fertile. Female homozygotes fail adequately to care for their litters.|C|T|37|35.0|Non-synonymous|Line Propagating
5162857|IGL00965|8|120166690|Q->R|0.55|Possibly damaging|MGI:3588213|Fam92b|family with sequence similarity 92, member B [Source:MGI Symbol;Acc:MGI:3588213]|Heterozygous||T|C|37|40.0|Non-synonymous|Line Propagating
5162858|IGL00965|7|103740965|I->F|0.01|Benign|MGI:3030463|Olfr629|olfactory receptor 629 [Source:MGI Symbol;Acc:MGI:3030463]|Heterozygous||T|A|35|39.0|Non-synonymous|Line Propagating
5162859|IGL00965|10|129767586|L->Q|0.92|Possibly damaging|MGI:3030642|Olfr808|olfactory receptor 808 [Source:MGI Symbol;Acc:MGI:3030642]|Heterozygous||T|A|34|40.0|Non-synonymous|Line Propagating
5162860|IGL00965|2|164804815|M->I|0.79|Possibly damaging|MGI:2158201|Acot8|acyl-CoA thioesterase 8 [Source:MGI Symbol;Acc:MGI:2158201]|Heterozygous||C|T|34|38.5|Non-synonymous|Line Propagating
5162861|IGL00965|6|67360577|T->A|1.0|Probably damaging|MGI:1270861|Il12rb2|interleukin 12 receptor, beta 2 [Source:MGI Symbol;Acc:MGI:1270861]|Heterozygous|Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors.|T|C|30|37.5|Non-synonymous|Line Propagating
5162862|IGL00965|10|57512100|P->S|1.0|Probably damaging|MGI:96239|Hsf2|heat shock factor 2 [Source:MGI Symbol;Acc:MGI:96239]|Heterozygous|Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males.|C|T|28|38.0|Non-synonymous|Line Propagating
5162865|IGL00965|2|168640680|V->L|0.94|Possibly damaging|MGI:1330826|Atp9a|ATPase, class II, type 9A [Source:MGI Symbol;Acc:MGI:1330826]|Heterozygous||C|A|27|40.0|Non-synonymous|Line Propagating
5162866|IGL00965|18|61323164|Y->H|1.0|Probably damaging|MGI:2444934|Ppargc1b|peroxisome proliferative activated receptor, gamma, coactivator 1 beta [Source:MGI Symbol;Acc:MGI:2444934]|Heterozygous|Mice homozygous for a knock-out allele exhibit some postnatal lethality, abnormal lipid homeostasis, and abnormal adipose tissue morphology.|A|G|26|35.0|Non-synonymous|Line Propagating
5162867|IGL00965|4|126493314|V->A||Benign|MGI:1924100|Eif2c4|eukaryotic translation initiation factor 2C, 4 [Source:MGI Symbol;Acc:MGI:1924100]|Heterozygous||A|G|25|40.0|Non-synonymous|Line Propagating
5162868|IGL00965|6|118559358|Y->Stop||N/A|MGI:1917887|Ankrd26|ankyrin repeat domain 26 [Source:MGI Symbol;Acc:MGI:1917887]|Heterozygous|Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism.|G|T|21|41.0|Non-synonymous|Line Propagating
5162869|IGL00965|5|74685717|N->I||Benign|MGI:1278335|Lnx1|ligand of numb-protein X 1 [Source:MGI Symbol;Acc:MGI:1278335]|Heterozygous||T|A|18|38.0|Non-synonymous|Line Propagating
5162870|IGL00965|1|68071630|L->Stop||N/A|MGI:104771|Erbb4|v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:MGI Symbol;Acc:MGI:104771]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects.|A|T|15|41.0|Non-synonymous|Line Propagating
5162871|IGL00965|9|78164539|I->V||Benign|MGI:1934157|Ick|intestinal cell kinase [Source:MGI Symbol;Acc:MGI:1934157]|Heterozygous||A|G|15|40.0|Non-synonymous|Line Propagating
5162872|IGL00965|1|92480024|D->G|1.0|Probably damaging|MGI:3031250|Olfr1416|olfactory receptor 1416 [Source:MGI Symbol;Acc:MGI:3031250]|Heterozygous||T|C|14|37.0|Non-synonymous|Line Propagating
5162873|IGL00965|6|90415805|E->K|||MGI:2141635|Ccdc37|coiled-coil domain containing 37 [Source:MGI Symbol;Acc:MGI:2141635]|Heterozygous||C|T|14|39.0|Non-synonymous|Line Propagating
5162874|IGL00965|15|80212433|A->D|1.0|Probably damaging|MGI:104532|Mgat3|mannoside acetylglucosaminyltransferase 3 [Source:MGI Symbol;Acc:MGI:104532]|Heterozygous|Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation.|C|A|13|37.0|Non-synonymous|Line Propagating
5162875|IGL00965|15|75711886|R->S|1.0|Probably damaging|MGI:1098783|Rhpn1|rhophilin, Rho GTPase binding protein 1 [Source:MGI Symbol;Acc:MGI:1098783]|Heterozygous||C|A|12|37.5|Non-synonymous|Line Propagating
5162877|IGL00965|17|34325797|Disrupted splicing|||MGI:95902|H2-eb2|histocompatibility 2, class II antigen E beta2 [Source:MGI Symbol;Acc:MGI:95902]|Heterozygous||T|A|51|39.0|Splice|Line Propagating
5162878|IGL00965|7|100006653|Disrupted splicing|||MGI:1916371|Chrdl2|chordin-like 2 [Source:MGI Symbol;Acc:MGI:1916371]|Heterozygous||T|A|41|38.0|Splice|Line Propagating
5162879|IGL00965|6|83103392|Disrupted splicing|||MGI:3045292|Ccdc142|coiled-coil domain containing 142 [Source:MGI Symbol;Acc:MGI:3045292]|Heterozygous||C|T|30|39.0|Splice|Line Propagating
5162880|IGL00965|15|76631880|Disrupted splicing|||MGI:1919999|Tonsl|tonsoku-like, DNA repair protein [Source:MGI Symbol;Acc:MGI:1919999]|Heterozygous||G|A|25|39.0|Splice|Line Propagating
5162881|IGL00965|8|106742010|Disrupted splicing|||MGI:2142786|Tmco7|transmembrane and coiled-coil domains 7 [Source:MGI Symbol;Acc:MGI:2142786]|Heterozygous||T|A|19|39.0|Splice|Line Propagating
5162882|IGL00965|2|131054263|Disrupted splicing|||MGI:1341813|Adam33|a disintegrin and metallopeptidase domain 33 [Source:MGI Symbol;Acc:MGI:1341813]|Heterozygous|Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma.|T|C|14|35.0|Splice|Line Propagating
5163483|IGL00966|11|98110974|S->N|0.7|Possibly damaging|MGI:1919444|Fbxl20|F-box and leucine-rich repeat protein 20 [Source:MGI Symbol;Acc:MGI:1919444]|Heterozygous|Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission.|C|T|141|39.0|Non-synonymous|Line Propagating
5163484|IGL00966|4|139966925|V->D||Benign|MGI:2444612|Klhdc7a|kelch domain containing 7A [Source:MGI Symbol;Acc:MGI:2444612]|Heterozygous||A|T|81|33.0|Non-synonymous|Line Propagating
5163485|IGL00966|7|41289095|D->E|0.99|Probably damaging|MGI:3648691|Gm5592|predicted gene 5592 [Source:MGI Symbol;Acc:MGI:3648691]|Heterozygous||T|A|81|39.0|Non-synonymous|Line Propagating
5163486|IGL00966|17|25018802|Y->C|1.0|Probably damaging|MGI:2146906|Ift140|intraflagellar transport 140 homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:2146906]|Heterozygous||A|G|74|39.0|Non-synonymous|Line Propagating
5163487|IGL00966|9|21244216|I->F|0.09|Benign|MGI:2150641|S1pr5|sphingosine-1-phosphate receptor 5 [Source:MGI Symbol;Acc:MGI:2150641]|Heterozygous|Bone marrow from mice homozygous for a knock-out allele induces impaired NK cell egression from the lymph nodes and bone marrow.|T|A|71|38.0|Non-synonymous|Line Propagating
5163488|IGL00966|11|100463205|V->I|0.92|Possibly damaging|MGI:2388648|Klhl11|kelch-like 11 (Drosophila) [Source:MGI Symbol;Acc:MGI:2388648]|Heterozygous||C|T|64|39.5|Non-synonymous|Line Propagating
5163489|IGL00966|16|37515730|E->G||Benign|MGI:1921447|Gtf2e1|general transcription factor II E, polypeptide 1 (alpha subunit) [Source:MGI Symbol;Acc:MGI:1921447]|Heterozygous||T|C|64|39.0|Non-synonymous|Line Propagating
5163490|IGL00966|9|20137235|F->L||Benign|MGI:3030703|Olfr869|olfactory receptor 869 [Source:MGI Symbol;Acc:MGI:3030703]|Heterozygous||T|C|64|40.0|Non-synonymous|Line Propagating
5163491|IGL00966|1|90045657|I->F|0.04|Benign|MGI:1922168|Iqca|IQ motif containing with AAA domain [Source:MGI Symbol;Acc:MGI:1922168]|Heterozygous||T|A|59|39.0|Non-synonymous|Line Propagating
5163492|IGL00966|8|71679012|C->S||Benign|MGI:99928|Jak3|Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]|Heterozygous|Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.|T|A|57|40.0|Non-synonymous|Line Propagating
5163493|IGL00966|9|38723379|N->I||Benign|MGI:1915026|Vwa5a|von Willebrand factor A domain containing 5A [Source:MGI Symbol;Acc:MGI:1915026]|Heterozygous||A|T|57|40.0|Non-synonymous|Line Propagating
5163494|IGL00966|3|113556040|I->V||Benign|MGI:88019|Amy1|amylase 1, salivary [Source:MGI Symbol;Acc:MGI:88019]|Heterozygous||T|C|56|40.0|Non-synonymous|Line Propagating
5163495|IGL00966|9|66852992|M->L|0.26|Benign|MGI:2442982|Rab8b|RAB8B, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:2442982]|Heterozygous||T|G|54|40.0|Non-synonymous|Line Propagating
5163496|IGL00966|15|101780961|Y->F|0.97|Probably damaging|MGI:2146034|Krt72-ps|keratin 72, pseudogene [Source:MGI Symbol;Acc:MGI:2146034]|Heterozygous||T|A|51|39.0|Non-synonymous|Line Propagating
5163498|IGL00966|11|35798047|T->A||Benign|MGI:3034689|Fbll1|fibrillarin-like 1 [Source:MGI Symbol;Acc:MGI:3034689]|Heterozygous||T|C|43|35.0|Non-synonymous|Line Propagating
5163499|IGL00966|10|81594458|L->M|0.99|Probably damaging|MGI:2149593|Tle6|transducin-like enhancer of split 6, homolog of Drosophila E(spl) [Source:MGI Symbol;Acc:MGI:2149593]|Heterozygous||A|T|41|38.0|Non-synonymous|Line Propagating
5163500|IGL00966|14|55898006|V->A|1.0|Probably damaging|MGI:1916876|Sdr39u1|short chain dehydrogenase/reductase family 39U, member 1 [Source:MGI Symbol;Acc:MGI:1916876]|Heterozygous||A|G|41|37.0|Non-synonymous|Line Propagating
5163501|IGL00966|13|93097906|V->I|0.09|Benign|MGI:1923719|Cmya5|cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]|Heterozygous||C|T|38|39.0|Non-synonymous|Line Propagating
5163502|IGL00966|5|107142501|T->A||Benign|MGI:104637|Tgfbr3|transforming growth factor, beta receptor III [Source:MGI Symbol;Acc:MGI:104637]|Heterozygous|Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system.|T|C|38|41.0|Non-synonymous|Line Propagating
5163504|IGL00966|2|76811377|L->F|1.0|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|A|37|40.0|Non-synonymous|Line Propagating
5163505|IGL00966|17|57419335|T->K||Benign|MGI:106912|Emr1|EGF-like module containing, mucin-like, hormone receptor-like sequence 1 [Source:MGI Symbol;Acc:MGI:106912]|Heterozygous|Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development.|C|A|35|40.0|Non-synonymous|Line Propagating
5163506|IGL00966|2|68211958|E->D||Benign|MGI:1858416|Stk39|serine/threonine kinase 39, STE20/SPS1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1858416]|Heterozygous|Mice homozygous for a null allele exhibit reduced bumetanide-sensitive thallium, a potassium tracer, uptake in dorsal root ganglion neurons and reduced fertility. Mice with an ENU mutation in intron 8 exhibit elevated albumin-creatinine (ACR) ratios.|T|A|34|39.0|Non-synonymous|Line Propagating
5163507|IGL00966|2|130264012|H->R|0.01|Benign|MGI:2151017|Tmc2|transmembrane channel-like gene family 2 [Source:MGI Symbol;Acc:MGI:2151017]|Heterozygous||A|G|34|39.0|Non-synonymous|Line Propagating
5163508|IGL00966|6|29176456|T->I||Unknown|MGI:2141677|Prrt4|proline-rich transmembrane protein 4 [Source:MGI Symbol;Acc:MGI:2141677]|Heterozygous||G|A|32|39.0|Non-synonymous|Line Propagating
5163509|IGL00966|18|20523607|I->N|0.6|Possibly damaging|MGI:99499|Dsg3|desmoglein 3 [Source:MGI Symbol;Acc:MGI:99499]|Heterozygous|Homozygous mutants display runting from decreased food intake due to oropharyngeal epithelial lesions, blisters around snout and eyes, hair loss by weaning, and hair regrowth with bald patches throughout life.|T|A|29|40.0|Non-synonymous|Line Propagating
5163510|IGL00966|7|101840386|E->G|0.97|Probably damaging|MGI:95569|Folr2|folate receptor 2 (fetal) [Source:MGI Symbol;Acc:MGI:95569]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and physically normal.|T|C|27|37.0|Non-synonymous|Line Propagating
5163511|IGL00966|X|160685294|I->T|0.01|Benign|MGI:1097157|Ppef1|protein phosphatase with EF hand calcium-binding domain 1 [Source:MGI Symbol;Acc:MGI:1097157]|Heterozygous|Homozygous null female and hemizygous null male mice are viable, fertile and display no overt abnormalities.|A|G|27|39.0|Non-synonymous|Line Propagating
5163512|IGL00966|8|86633972|I->N|0.99|Probably damaging|MGI:1914137|Lonp2|lon peptidase 2, peroxisomal [Source:MGI Symbol;Acc:MGI:1914137]|Heterozygous||T|A|26|37.5|Non-synonymous|Line Propagating
5163513|IGL00966|15|101272788|L->P|1.0|Probably damaging|MGI:1352454|Nr4a1|nuclear receptor subfamily 4, group A, member 1 [Source:MGI Symbol;Acc:MGI:1352454]|Heterozygous|Mice homozygous for a targeted null mutation are viable, fertile, and display a normal HPA axis function, as well as normal thymic and peripheral T cell deletion.|T|C|24|37.0|Non-synonymous|Line Propagating
5163514|IGL00966|7|45288244|T->M|0.31|Benign|MGI:1923963|1700039e15rik|RIKEN cDNA 1700039E15 gene [Source:MGI Symbol;Acc:MGI:1923963]|Heterozygous||C|T|24|40.0|Non-synonymous|Line Propagating
5163515|IGL00966|12|84772845|I->N|0.3|Benign|MGI:1915213|Npc2|Niemann Pick type C2 [Source:MGI Symbol;Acc:MGI:1915213]|Heterozygous||A|T|23|35.0|Non-synonymous|Line Propagating
5163516|IGL00966|9|104126656|E->G|1.0|Probably damaging|MGI:2143169|Acad11|acyl-Coenzyme A dehydrogenase family, member 11 [Source:MGI Symbol;Acc:MGI:2143169]|Heterozygous||A|G|23|35.0|Non-synonymous|Line Propagating
5163517|IGL00966|16|11395228|F->S|1.0|Probably damaging|MGI:1921728|Rundc2a|RUN domain containing 2A [Source:MGI Symbol;Acc:MGI:2686583]|Heterozygous||T|C|21|35.0|Non-synonymous|Line Propagating
5163518|IGL00966|2|132245977|D->E|0.01|Benign|MGI:1917862|5730494n06rik|RIKEN cDNA 5730494N06 gene [Source:MGI Symbol;Acc:MGI:1917862]|Heterozygous||G|T|20|40.0|Non-synonymous|Line Propagating
5163519|IGL00966|5|96555221|D->G||Benign|MGI:2385368|Fras1|Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.|A|G|20|40.0|Non-synonymous|Line Propagating
5163520|IGL00966|10|24654031|H->Y|0.96|Probably damaging|MGI:97370|Enpp1|ectonucleotide pyrophosphatase/phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:97370]|Heterozygous|Mice homozygous for a spontaneous allele or knock-out allele exhibit calcification of articular and intervertebral joints, hypercalcification of osteoblasts, and calcinosis.|G|A|19|38.0|Non-synonymous|Line Propagating
5163521|IGL00966|2|127810663|S->P|1.0|Probably damaging|MGI:1100510|Bub1|budding uninhibited by benzimidazoles 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1100510]|Heterozygous|Mice homozygous for a null mutation exhibit embryonic lethality prior to implantation.|A|G|19|40.0|Non-synonymous|Line Propagating
5163522|IGL00966|4|131772616|V->E|1.0|Probably damaging|MGI:1321151|Ptpru|protein tyrosine phosphatase, receptor type, U [Source:MGI Symbol;Acc:MGI:1321151]|Heterozygous||A|T|19|35.0|Non-synonymous|Line Propagating
5163523|IGL00966|8|123911906|N->S|0.99|Probably damaging|MGI:2442620|Nup133|nucleoporin 133 [Source:MGI Symbol;Acc:MGI:2442620]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development.|T|C|19|38.0|Non-synonymous|Line Propagating
5163524|IGL00966|10|19005137|F->S|1.0|Probably damaging|MGI:1196377|Tnfaip3|tumor necrosis factor, alpha-induced protein 3 [Source:MGI Symbol;Acc:MGI:1196377]|Heterozygous|Homozygous null mice display partial postnatal lethality, runting, and severe inflammation in the liver, kidneys, joints, intestines, and bone marrow.|A|G|15|39.0|Non-synonymous|Line Propagating
5163525|IGL00966|9|15999094|V->F|0.7|Possibly damaging|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||C|A|15|41.0|Non-synonymous|Line Propagating
5163526|IGL00966|11|102914675|M->K|0.98|Probably damaging|MGI:2446979|Kif18b|kinesin family member 18B [Source:MGI Symbol;Acc:MGI:2446979]|Heterozygous||A|T|14|39.0|Non-synonymous|Line Propagating
5163527|IGL00966|7|131243107|Y->Stop||N/A|MGI:1918645|5430419d17rik|RIKEN cDNA 5430419D17 gene [Source:MGI Symbol;Acc:MGI:1918645]|Heterozygous||T|A|12|39.0|Non-synonymous|Line Propagating
5163528|IGL00966|8|119745590|V->A||Benign|MGI:1916297|Atp2c2|ATPase, Ca++ transporting, type 2C, member 2 [Source:MGI Symbol;Acc:MGI:1916297]|Heterozygous||T|C|12|40.0|Non-synonymous|Line Propagating
5163530|IGL00966|5|136311491|Disrupted splicing|||MGI:88568|Cux1|cut-like homeobox 1 [Source:MGI Symbol;Acc:MGI:88568]|Heterozygous|Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.|A|T|97|40.0|Splice|Line Propagating
5163531|IGL00966|5|31170173|Disrupted splicing|||MGI:1919002|Gtf3c2|general transcription factor IIIC, polypeptide 2, beta [Source:MGI Symbol;Acc:MGI:1919002]|Heterozygous||A|G|40|39.5|Splice|Line Propagating
5163532|IGL00966|14|51991698|Disrupted splicing|||MGI:2685515|Arhgef40|Rho guanine nucleotide exchange factor (GEF) 40 [Source:MGI Symbol;Acc:MGI:2685515]|Heterozygous||G|A|26|39.0|Splice|Line Propagating
5163533|IGL00966|8|106025901|Disrupted splicing|||MGI:1913619|Dus2l|dihydrouridine synthase 2-like (SMM1, S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913619]|Heterozygous||T|A|22|38.0|Splice|Line Propagating
5163534|IGL00966|5|24501002|Disrupted splicing|||MGI:2183446|Agap3|ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Source:MGI Symbol;Acc:MGI:2183446]|Heterozygous||A|G|13|38.0|Splice|Line Propagating
5164109|IGL00967|18|36999072|V->A|||MGI:2150982|Pcdha1|protocadherin alpha 1 [Source:MGI Symbol;Acc:MGI:2150982]|Heterozygous|Mice homozygous for a null allele are viable and fertile.|T|C|86|39.0|Non-synonymous|Line Propagating
5164110|IGL00967|7|120768166|Y->Stop||N/A|MGI:3041229|Vwa3a|von Willebrand factor A domain containing 3A [Source:MGI Symbol;Acc:MGI:3041229]|Heterozygous||T|A|80|39.0|Non-synonymous|Line Propagating
5164111|IGL00967|2|87810227|S->P|0.95|Possibly damaging|MGI:3030979|Olfr1145|olfactory receptor 1145 [Source:MGI Symbol;Acc:MGI:3030979]|Heterozygous||T|C|77|39.0|Non-synonymous|Line Propagating
5164112|IGL00967|6|36523268|T->I|0.99|Probably damaging|MGI:88397|Chrm2|cholinergic receptor, muscarinic 2, cardiac [Source:MGI Symbol;Acc:MGI:88397]|Heterozygous|Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine.|C|T|77|41.0|Non-synonymous|Line Propagating
5164113|IGL00967|18|21148554|N->K|1.0|Probably damaging|MGI:2685790|Fam59a|family with sequence similarity 59, member A [Source:MGI Symbol;Acc:MGI:2685790]|Heterozygous||A|T|67|38.0|Non-synonymous|Line Propagating
5164114|IGL00967|11|68991754|S->P|1.0|Probably damaging|MGI:2684864|Pfas|phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) [Source:MGI Symbol;Acc:MGI:2684864]|Heterozygous||A|G|59|38.0|Non-synonymous|Line Propagating
5164115|IGL00967|1|150646704|T->A||Benign|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||T|C|51|40.0|Non-synonymous|Line Propagating
5164116|IGL00967|15|77783425|S->P|1.0|Probably damaging|MGI:107717|Myh9|myosin, heavy polypeptide 9, non-muscle [Source:MGI Symbol;Acc:MGI:107717]|Heterozygous|Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance but no kidney or hematopoietic defects. Mice homozygous for a conditional allele activated in T cells exhibit impaired T cell migration and adhesion.|A|G|50|39.0|Non-synonymous|Line Propagating
5164117|IGL00967|2|114196937|E->G|0.94|Possibly damaging|MGI:2445100|Zfp770|zinc finger protein 770 [Source:MGI Symbol;Acc:MGI:2445100]|Heterozygous||T|C|49|40.0|Non-synonymous|Line Propagating
5164119|IGL00967|7|103612137|D->V|1.0|Probably damaging|MGI:3030454|Olfr620|olfactory receptor 620 [Source:MGI Symbol;Acc:MGI:3030454]|Heterozygous||T|A|45|38.0|Non-synonymous|Line Propagating
5164120|IGL00967|1|52106936|Stop->C||N/A|MGI:103062|Stat4|signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]|Heterozygous||A|T|42|40.0|Non-synonymous|Line Propagating
5164121|IGL00967|8|33570900|N->K|||MGI:1934816|Tex15|testis expressed gene 15 [Source:MGI Symbol;Acc:MGI:1934816]|Heterozygous|Male mice are infertile due to arrest of meiosis stemming from failure to repair double-strand breaks. However, female mice are fertile.|T|A|41|40.0|Non-synonymous|Line Propagating
5164122|IGL00967|12|83777036|G->E|1.0|Probably damaging|MGI:2386139|Papln|papilin, proteoglycan-like sulfated glycoprotein [Source:MGI Symbol;Acc:MGI:2386139]|Heterozygous||G|A|39|40.0|Non-synonymous|Line Propagating
5164123|IGL00967|16|21892309|D->G|0.38|Benign|MGI:2444243|Map3k13|mitogen-activated protein kinase kinase kinase 13 [Source:MGI Symbol;Acc:MGI:2444243]|Heterozygous||A|G|37|37.0|Non-synonymous|Line Propagating
5164124|IGL00967|12|64996978|C->Stop||N/A|MGI:2684313|Fam179b|family with sequence similarity 179, member B [Source:MGI Symbol;Acc:MGI:2684313]|Heterozygous||T|A|35|39.0|Non-synonymous|Line Propagating
5164125|IGL00967|17|43499419|N->S|0.01|Benign|MGI:96963|Mep1a|meprin 1 alpha [Source:MGI Symbol;Acc:MGI:96963]|Heterozygous||T|C|34|39.0|Non-synonymous|Line Propagating
5164126|IGL00967|1|157533099|Y->F|0.96|Probably damaging|MGI:2148802|Sec16b|SEC16 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2148802]|Heterozygous||A|T|33|38.0|Non-synonymous|Line Propagating
5164127|IGL00967|19|9006944|V->A|0.03|Benign|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|T|C|32|40.0|Non-synonymous|Line Propagating
5164128|IGL00967|2|114120028|Y->F|0.15|Benign|MGI:1276102|Aqr|aquarius [Source:MGI Symbol;Acc:MGI:1276102]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.|T|A|31|40.0|Non-synonymous|Line Propagating
5164129|IGL00967|1|20779331|R->C|0.99|Probably damaging|MGI:2676631|Il17f|interleukin 17F [Source:MGI Symbol;Acc:MGI:2676631]|Heterozygous||G|A|29|40.0|Non-synonymous|Line Propagating
5164131|IGL00967|X|135746231|R->L|0.99|Probably damaging|MGI:2148026|Armcx5|armadillo repeat containing, X-linked 5 [Source:MGI Symbol;Acc:MGI:2148026]|Heterozygous||G|T|28|39.0|Non-synonymous|Line Propagating
5164132|IGL00967|15|76666116|K->E|1.0|Probably damaging|MGI:109187|Kifc2|kinesin family member C2 [Source:MGI Symbol;Acc:MGI:109187]|Heterozygous|Mice homozygous for this targeted mutation are viable, fertile, and phenotypically normal in terms of development, organ morphology and behavior.|A|G|27|40.0|Non-synonymous|Line Propagating
5164133|IGL00967|7|90469151|V->I|0.92|Possibly damaging|MGI:1915722|Tmem126b|transmembrane protein 126B [Source:MGI Symbol;Acc:MGI:1915722]|Heterozygous||C|T|26|41.0|Non-synonymous|Line Propagating
5164134|IGL00967|9|66411082|Y->C||Benign|MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|A|G|26|39.5|Non-synonymous|Line Propagating
5164135|IGL00967|14|65008061|I->N|1.0|Probably damaging|MGI:1098533|Ints9|integrator complex subunit 9 [Source:MGI Symbol;Acc:MGI:1098533]|Heterozygous||T|A|25|40.0|Non-synonymous|Line Propagating
5164136|IGL00967|15|71462495|T->I|0.06|Benign|MGI:1917613|Fam135b|family with sequence similarity 135, member B [Source:MGI Symbol;Acc:MGI:1917613]|Heterozygous||G|A|24|40.0|Non-synonymous|Line Propagating
5164137|IGL00967|4|154265121|E->G|0.32|Benign|MGI:1919351|Megf6|multiple EGF-like-domains 6 [Source:MGI Symbol;Acc:MGI:1919351]|Heterozygous||A|G|23|37.0|Non-synonymous|Line Propagating
5164138|IGL00967|5|115614394|I->V||Benign|MGI:2444248|Gcn1l1|GCN1 general control of amino-acid synthesis 1-like 1 (yeast) [Source:MGI Symbol;Acc:MGI:2444248]|Heterozygous||A|G|23|38.0|Non-synonymous|Line Propagating
5164139|IGL00967|12|4942064|D->G|0.12|Benign|MGI:2444798|Atad2b|ATPase family, AAA domain containing 2B [Source:MGI Symbol;Acc:MGI:2444798]|Heterozygous||A|G|22|40.0|Non-synonymous|Line Propagating
5164140|IGL00967|2|91120432|W->R|1.0|Probably damaging|MGI:102844|Mybpc3|myosin binding protein C, cardiac [Source:MGI Symbol;Acc:MGI:102844]|Heterozygous|Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis.|T|C|20|40.0|Non-synonymous|Line Propagating
5164141|IGL00967|17|5752837|T->K|0.07|Benign|MGI:2653229|Zdhhc14|zinc finger, DHHC domain containing 14 [Source:MGI Symbol;Acc:MGI:2653229]|Heterozygous||C|A|17|37.0|Non-synonymous|Line Propagating
5164142|IGL00967|X|112627180|D->E||Benign|MGI:3045342|Zfp711|zinc finger protein 711 [Source:MGI Symbol;Acc:MGI:3045342]|Heterozygous||T|A|16|38.5|Non-synonymous|Line Propagating
5164143|IGL00967|16|3991630|S->P|0.85|Possibly damaging|MGI:106299|Slx4|SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:106299]|Heterozygous|Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis.|A|G|15|41.0|Non-synonymous|Line Propagating
5164144|IGL00967|6|97229545|S->N||Benign|MGI:1929501|Arl6ip5|ADP-ribosylation factor-like 6 interacting protein 5 [Source:MGI Symbol;Acc:MGI:1929501]|Heterozygous||G|A|15|40.0|Non-synonymous|Line Propagating
5164145|IGL00967|18|22512097|L->F|0.99|Probably damaging|MGI:2685175|Asxl3|additional sex combs like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685175]|Heterozygous||A|T|13|40.0|Non-synonymous|Line Propagating
5164146|IGL00967|12|32379507|P->L||Unknown|MGI:1919373|2010109k11rik|RIKEN cDNA 2010109K11 gene [Source:MGI Symbol;Acc:MGI:1919373]|Heterozygous||C|T|12|36.0|Non-synonymous|Line Propagating
5164147|IGL00967|11|87981554|Y->C|0.58|Possibly damaging|MGI:1915347|Dynll2|dynein light chain LC8-type 2 [Source:MGI Symbol;Acc:MGI:1915347]|Heterozygous||T|C|11|40.0|Non-synonymous|Line Propagating
5164148|IGL00967|16|44479040|N->S|0.99|Probably damaging|MGI:1277238|Wdr52|WD repeat domain 52 [Source:MGI Symbol;Acc:MGI:1277238]|Heterozygous||A|G|10|37.0|Non-synonymous|Line Propagating
5164151|IGL00967|8|22132984|Disrupted splicing|||MGI:1344371|Nek3|NIMA (never in mitosis gene a)-related expressed kinase 3 [Source:MGI Symbol;Acc:MGI:1344371]|Heterozygous||T|C|92|40.0|Splice|Line Propagating
5164152|IGL00967|1|189833314|Disrupted splicing|||MGI:102467|Ptpn14|protein tyrosine phosphatase, non-receptor type 14 [Source:MGI Symbol;Acc:MGI:102467]|Heterozygous|Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia.|G|A|78|39.0|Splice|Line Propagating
5164153|IGL00967|14|31293811|Disrupted splicing|||MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|G|A|41|40.0|Splice|Line Propagating
5164154|IGL00967|5|8737610|Disrupted splicing|||MGI:97570|Abcb1a|ATP-binding cassette, sub-family B (MDR/TAP), member 1A [Source:MGI Symbol;Acc:MGI:97570]|Heterozygous|Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine.|T|C|40|40.5|Splice|Line Propagating
5164155|IGL00967|7|64204599|Disrupted splicing|||MGI:1330305|Trpm1|transient receptor potential cation channel, subfamily M, member 1 [Source:MGI Symbol;Acc:MGI:1330305]|Heterozygous|Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses.|T|C|39|38.0|Splice|Line Propagating
5164156|IGL00967|2|11248339|Disrupted splicing|||MGI:97601|Prkcq|protein kinase C, theta [Source:MGI Symbol;Acc:MGI:97601]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes.|A|T|33|36.0|Splice|Line Propagating
5164157|IGL00967|4|134542708|Disrupted splicing|||MGI:2151208|Sepn1|selenoprotein N, 1 [Source:MGI Symbol;Acc:MGI:2151208]|Heterozygous|Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration.|C|T|29|40.0|Splice|Line Propagating
5164158|IGL00967|7|118791481|Disrupted splicing|||MGI:1918767|9030624j02rik|RIKEN cDNA 9030624J02 gene [Source:MGI Symbol;Acc:MGI:1918767]|Heterozygous||T|C|23|39.0|Splice|Line Propagating
5165380|IGL00969|1|140088682|W->R|1.0|Probably damaging|MGI:88385|Cfh|complement component factor h [Source:MGI Symbol;Acc:MGI:88385]|Heterozygous|Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.|A|G|133|39.0|Non-synonymous|Line Propagating
5165381|IGL00969|2|85689663|C->Y||Benign|MGI:3030842|Olfr1008|olfactory receptor 1008 [Source:MGI Symbol;Acc:MGI:3030842]|Heterozygous||G|A|117|40.0|Non-synonymous|Line Propagating
5165383|IGL00969|8|47846158|R->W||Unknown|MGI:1261872|Wwc2|WW, C2 and coiled-coil domain containing 2 [Source:MGI Symbol;Acc:MGI:1261872]|Heterozygous||G|A|63|35.0|Non-synonymous|Line Propagating
5165384|IGL00969|9|44508242|T->A|0.87|Possibly damaging|MGI:1933114|Bcl9l|B-cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]|Heterozygous|Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.|A|G|60|35.5|Non-synonymous|Line Propagating
5165385|IGL00969|7|103661067|Y->F|0.57|Possibly damaging|MGI:3030457|Olfr623|olfactory receptor 623 [Source:MGI Symbol;Acc:MGI:3030457]|Heterozygous||T|A|52|40.0|Non-synonymous|Line Propagating
5165386|IGL00969|2|181569617|D->G|0.01|Benign|MGI:1915806|Uckl1|uridine-cytidine kinase 1-like 1 [Source:MGI Symbol;Acc:MGI:1915806]|Heterozygous||T|C|43|40.0|Non-synonymous|Line Propagating
5165387|IGL00969|18|37726374|D->G|1.0|Probably damaging|MGI:1935228|Pcdhga11|protocadherin gamma subfamily A, 11 [Source:MGI Symbol;Acc:MGI:1935228]|Heterozygous||A|G|39|40.0|Non-synonymous|Line Propagating
5165388|IGL00969|12|98758843|S->T||Benign|MGI:1919824|Zc3h14|zinc finger CCCH type containing 14 [Source:MGI Symbol;Acc:MGI:1919824]|Heterozygous||T|A|38|38.0|Non-synonymous|Line Propagating
5165389|IGL00969|16|59027631|I->T|0.15|Benign|MGI:3030020|Olfr186|olfactory receptor 186 [Source:MGI Symbol;Acc:MGI:3030020]|Heterozygous||A|G|37|40.0|Non-synonymous|Line Propagating
5165390|IGL00969|15|66004726|V->F|0.98|Probably damaging|MGI:1336181|Kcnq3|potassium voltage-gated channel, subfamily Q, member 3 [Source:MGI Symbol;Acc:MGI:1336181]|Heterozygous|Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.|C|A|35|41.0|Non-synonymous|Line Propagating
5165391|IGL00969|10|40843128|V->E|1.0|Probably damaging|MGI:1918963|Cdc40|cell division cycle 40 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1918963]|Heterozygous||A|T|34|39.0|Non-synonymous|Line Propagating
5165392|IGL00969|18|71456883|Y->H|0.05|Benign|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|A|G|34|37.0|Non-synonymous|Line Propagating
5165393|IGL00969|10|88225066|I->N|||MGI:1914532|Ccdc53|coiled-coil domain containing 53 [Source:MGI Symbol;Acc:MGI:1914532]|Heterozygous||T|A|30|40.0|Non-synonymous|Line Propagating
5165395|IGL00969|19|12674241|L->P|1.0|Probably damaging|MGI:3031276|Olfr1442|olfactory receptor 1442 [Source:MGI Symbol;Acc:MGI:3031276]|Heterozygous||T|C|30|40.0|Non-synonymous|Line Propagating
5165396|IGL00969|5|112875007|R->H||Unknown|MGI:1921626|Myo18b|myosin XVIIIb [Source:MGI Symbol;Acc:MGI:1921626]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.|C|T|30|39.0|Non-synonymous|Line Propagating
5165397|IGL00969|10|125997115|L->S|1.0|Probably damaging|MGI:2443955|Lrig3|leucine-rich repeats and immunoglobulin-like domains 3 [Source:MGI Symbol;Acc:MGI:2443955]|Heterozygous|Mice homozygous for a null allele or severely hypomorphic gene trap allele exhibit fusion of the lateral semicircular canal and circling behavior.|T|C|21|37.0|Non-synonymous|Line Propagating
5165399|IGL00969|4|124783994|Y->H|1.0|Probably damaging|MGI:103257|Inpp5b|inositol polyphosphate-5-phosphatase B [Source:MGI Symbol;Acc:MGI:103257]|Heterozygous|Homozygous null male mice are infertile with a disruption in spermatogenesis and a defect in adherens junctions processing.|T|C|20|38.5|Non-synonymous|Line Propagating
5165400|IGL00969|11|83882700|T->A|0.09|Benign|MGI:98505|Hnf1b|HNF1 homeobox B [Source:MGI Symbol;Acc:MGI:98505]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality.|A|G|18|38.5|Non-synonymous|Line Propagating
5165401|IGL00969|18|49912725|N->K||Benign|MGI:2443926|Dmxl1|Dmx-like 1 [Source:MGI Symbol;Acc:MGI:2443926]|Heterozygous||T|A|18|35.5|Non-synonymous|Line Propagating
5165402|IGL00969|1|193223644|C->Stop||N/A|MGI:103562|Hsd11b1|hydroxysteroid 11-beta dehydrogenase 1 [Source:MGI Symbol;Acc:MGI:103562]|Heterozygous|Mice homozygous for disruptions in this gene display a normal morphology. They have improved glucose tolerance and lower circulating lipid levels.|A|T|17|39.0|Non-synonymous|Line Propagating
5165403|IGL00969|14|56564963|N->K|0.28|Benign|MGI:2684927|Cenpj|centromere protein J [Source:MGI Symbol;Acc:MGI:2684927]|Heterozygous||A|T|17|40.0|Non-synonymous|Line Propagating
5165404|IGL00969|3|145008958|S->P|0.28|Benign|MGI:1346342|Clca3|chloride channel calcium activated 3 [Source:MGI Symbol;Acc:MGI:1346342]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated mucin response.|A|G|17|37.0|Non-synonymous|Line Propagating
5165405|IGL00969|7|86228717|H->N||Benign|MGI:3761332|Vmn2r76|vomeronasal 2, receptor 76 [Source:MGI Symbol;Acc:MGI:3761332]|Heterozygous||G|T|16|39.5|Non-synonymous|Line Propagating
5165406|IGL00969|11|49685120|M->V||Benign|MGI:2144529|Cnot6|CCR4-NOT transcription complex, subunit 6 [Source:MGI Symbol;Acc:MGI:2144529]|Heterozygous||T|C|14|41.0|Non-synonymous|Line Propagating
5165407|IGL00969|19|42731438|D->G|0.58|Possibly damaging|MGI:1921830|Pyroxd2|pyridine nucleotide-disulphide oxidoreductase domain 2 [Source:MGI Symbol;Acc:MGI:1921830]|Heterozygous||T|C|14|37.0|Non-synonymous|Line Propagating
5165408|IGL00969|7|55806595|S->T|0.76|Possibly damaging|MGI:2178836|Tubgcp5|tubulin, gamma complex associated protein 5 [Source:MGI Symbol;Acc:MGI:2178836]|Heterozygous||T|A|14|40.0|Non-synonymous|Line Propagating
5165409|IGL00969|10|5814148|S->P|1.0|Probably damaging|MGI:1918830|Mtrf1l|mitochondrial translational release factor 1-like [Source:MGI Symbol;Acc:MGI:1918830]|Heterozygous||T|C|13|39.0|Non-synonymous|Line Propagating
5165410|IGL00969|13|13365065|W->Stop||N/A|MGI:1891463|Gpr137b|G protein-coupled receptor 137B [Source:MGI Symbol;Acc:MGI:1891463]|Heterozygous||C|T|13|39.0|Non-synonymous|Line Propagating
5165411|IGL00969|3|154618526|E->Stop||N/A|MGI:88527|Cryz|crystallin, zeta [Source:MGI Symbol;Acc:MGI:88527]|Heterozygous||G|T|13|41.0|Non-synonymous|Line Propagating
5165412|IGL00969|5|4001550|S->N||Benign|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||G|A|13|41.0|Non-synonymous|Line Propagating
5165413|IGL00969|13|65297260|V->A|||MGI:2176229|Zfp369|zinc finger protein 369 [Source:MGI Symbol;Acc:MGI:2176229]|Heterozygous||T|C|11|40.0|Non-synonymous|Line Propagating
5165414|IGL00969|16|39008917|T->S|1.0|Probably damaging|MGI:2388477|Igsf11|immunoglobulin superfamily, member 11 [Source:MGI Symbol;Acc:MGI:2388477]|Heterozygous||A|T|10|39.0|Non-synonymous|Line Propagating
5165415|IGL00969|11|99948465|Disrupted splicing|||MGI:3650333|Krtap9-5|keratin associated protein 9-5 [Source:MGI Symbol;Acc:MGI:3650333]|Heterozygous||T|C|92|40.0|Splice|Line Propagating
5165416|IGL00969|14|60228916|Disrupted splicing|||MGI:1919094|Nupl1|nucleoporin like 1 [Source:MGI Symbol;Acc:MGI:1919094]|Heterozygous||A|G|48|40.0|Splice|Line Propagating
5165417|IGL00969|19|37011252|Disrupted splicing|||MGI:2147538|Btaf1|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, (Mot1 homolog, S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147538]|Heterozygous||T|G|23|38.0|Splice|Line Propagating
5165418|IGL00969|3|145594596|Disrupted splicing|||MGI:1916996|Znhit6|zinc finger, HIT type 6 [Source:MGI Symbol;Acc:MGI:1916996]|Heterozygous||A|G|19|41.0|Splice|Line Propagating
5166667|IGL00971|7|10714955|T->A|0.98|Probably damaging|MGI:3056570|Nlrp4b|NLR family, pyrin domain containing 4B [Source:MGI Symbol;Acc:MGI:3056570]|Heterozygous||A|G|80|38.0|Non-synonymous|Line Propagating
5166668|IGL00971|1|33783153|S->P||Benign|MGI:2137896|Zfp451|zinc finger protein 451 [Source:MGI Symbol;Acc:MGI:2137896]|Heterozygous||A|G|76|40.0|Non-synonymous|Line Propagating
5166669|IGL00971|4|117914367|E->G|0.94|Possibly damaging|MGI:2385205|Ipo13|importin 13 [Source:MGI Symbol;Acc:MGI:2385205]|Heterozygous||T|C|63|38.0|Non-synonymous|Line Propagating
5166670|IGL00971|11|61904796|V->A|0.94|Possibly damaging|MGI:1890218|Akap10|A kinase (PRKA) anchor protein 10 [Source:MGI Symbol;Acc:MGI:1890218]|Heterozygous|Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background.|A|G|57|39.0|Non-synonymous|Line Propagating
5166671|IGL00971|15|12374718|L->P||Benign|MGI:1922394|Pdzd2|PDZ domain containing 2 [Source:MGI Symbol;Acc:MGI:1922394]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.|A|G|54|39.0|Non-synonymous|Line Propagating
5166672|IGL00971|4|118666278|F->I|1.0|Probably damaging|MGI:1333887|Olfr62|olfactory receptor 62 [Source:MGI Symbol;Acc:MGI:1333887]|Heterozygous||T|A|51|39.0|Non-synonymous|Line Propagating
5166673|IGL00971|13|106856769|I->N|0.99|Probably damaging|MGI:2442377|Ipo11|importin 11 [Source:MGI Symbol;Acc:MGI:2442377]|Heterozygous||A|T|46|40.0|Non-synonymous|Line Propagating
5166674|IGL00971|10|120094263|D->G|||MGI:2152895|Helb|helicase (DNA) B [Source:MGI Symbol;Acc:MGI:2152895]|Heterozygous||T|C|44|39.0|Non-synonymous|Line Propagating
5166675|IGL00971|2|25343325|S->A|0.3|Benign|MGI:2684954|Man1b1|mannosidase, alpha, class 1B, member 1 [Source:MGI Symbol;Acc:MGI:2684954]|Heterozygous||T|G|43|39.0|Non-synonymous|Line Propagating
5166676|IGL00971|11|83759309|P->L|1.0|Probably damaging|MGI:1919790|Heatr6|HEAT repeat containing 6 [Source:MGI Symbol;Acc:MGI:1919790]|Heterozygous||C|T|41|39.0|Non-synonymous|Line Propagating
5166677|IGL00971|4|43428377|L->P|1.0|Probably damaging|MGI:2445194|Fam166b|family with sequence similarity 166, member B [Source:MGI Symbol;Acc:MGI:2445194]|Heterozygous||A|G|40|38.5|Non-synonymous|Line Propagating
5166678|IGL00971|14|35810213|C->Y|0.82|Possibly damaging|MGI:3588288|4930596d02rik|RIKEN cDNA 4930596D02 gene [Source:MGI Symbol;Acc:MGI:3588288]|Heterozygous||C|T|38|40.0|Non-synonymous|Line Propagating
5166679|IGL00971|17|21463582|T->M|0.16|Benign|MGI:99198|Zfp51|zinc finger protein 51 [Source:MGI Symbol;Acc:MGI:99198]|Heterozygous||C|T|38|40.0|Non-synonymous|Line Propagating
5166680|IGL00971|2|28670940|S->Stop||N/A|MGI:1929183|Tsc1|tuberous sclerosis 1 [Source:MGI Symbol;Acc:MGI:1929183]|Heterozygous|Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures.|C|A|37|40.0|Non-synonymous|Line Propagating
5166681|IGL00971|11|107663653|I->F|0.69|Possibly damaging|MGI:1925705|Helz|helicase with zinc finger domain [Source:MGI Symbol;Acc:MGI:1925705]|Heterozygous|Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.|A|T|35|39.0|Non-synonymous|Line Propagating
5166682|IGL00971|2|142711744|Q->K||Benign|MGI:1098240|Kif16b|kinesin family member 16B [Source:MGI Symbol;Acc:MGI:1098240]|Heterozygous|Chimera embryos containing a knock-out allele and derived from tetraploid rescue exhibit lethal growth arrest at the blastocyst stage with abnormal development of the primitive endoderm, epiblast epithelium, and basement membrane.|G|T|35|37.0|Non-synonymous|Line Propagating
5166683|IGL00971|10|11290298|Y->H||Benign|MGI:1919115|Fbxo30|F-box protein 30 [Source:MGI Symbol;Acc:MGI:1919115]|Heterozygous||T|C|34|40.0|Non-synonymous|Line Propagating
5166684|IGL00971|3|54369276|N->S|1.0|Probably damaging|MGI:1926321|Postn|periostin, osteoblast specific factor [Source:MGI Symbol;Acc:MGI:1926321]|Heterozygous|Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities.|A|G|31|39.0|Non-synonymous|Line Propagating
5166685|IGL00971|11|6636808|C->F|1.0|Probably damaging|MGI:98943|Wap|whey acidic protein [Source:MGI Symbol;Acc:MGI:98943]|Heterozygous|Homozygous mutants are phenotypically normal and fertile. Functional differentiation of mammary epithelium is normal and dams produce milk, but pups thrive poorly on milk lacking whey acidic protein. A normal variant determines a one amino acid change in WAP protein in YBR versus other strains.|C|A|30|37.5|Non-synonymous|Line Propagating
5166686|IGL00971|9|57700707|C->F|1.0|Probably damaging|MGI:88588|Cyp1a1|cytochrome P450, family 1, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88588]|Heterozygous|Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment.|G|T|30|40.0|Non-synonymous|Line Propagating
5166687|IGL00971|1|171639242|I->L|0.05|Benign|MGI:1922595|Slamf7|SLAM family member 7 [Source:MGI Symbol;Acc:MGI:1922595]|Heterozygous|Natural Killer cells from null homozygotes display impaired cytolysis of certain target cells.|T|A|29|40.0|Non-synonymous|Line Propagating
5166688|IGL00971|11|84840404|I->V||Benign|MGI:2387356|Ggnbp2|gametogenetin binding protein 2 [Source:MGI Symbol;Acc:MGI:2387356]|Heterozygous||T|C|28|41.0|Non-synonymous|Line Propagating
5166689|IGL00971|8|93303032|Y->C|1.0|Probably damaging|MGI:88378|Ces1g|carboxylesterase 1G [Source:MGI Symbol;Acc:MGI:88378]|Heterozygous||T|C|27|39.0|Non-synonymous|Line Propagating
5166690|IGL00971|11|102479917|Y->H||Unknown|MGI:1918667|Gpatch8|G patch domain containing 8 [Source:MGI Symbol;Acc:MGI:1918667]|Heterozygous||A|G|26|39.0|Non-synonymous|Line Propagating
5166691|IGL00971|9|27101892|D->E|1.0|Probably damaging|MGI:1933825|Jam3|junction adhesion molecule 3 [Source:MGI Symbol;Acc:MGI:1933825]|Heterozygous|Approximately 60% of mice homozygous for a targeted mutation exhibit postnatal lethality. Males are infertile and display small testes and arrested differentiation of round spermatids into spermatozoa, as shown by the absence of acrosomes, elongated nuclei, and morphological signs of polarization.|A|C|23|39.0|Non-synonymous|Line Propagating
5166692|IGL00971|12|108160237|I->N|1.0|Probably damaging|MGI:1289184|Setd3|SET domain containing 3 [Source:MGI Symbol;Acc:MGI:1289184]|Heterozygous||A|T|20|40.5|Non-synonymous|Line Propagating
5166693|IGL00971|19|42076120|N->S||Benign|MGI:2449568|Morn4|MORN repeat containing 4 [Source:MGI Symbol;Acc:MGI:2449568]|Heterozygous||T|C|19|35.0|Non-synonymous|Line Propagating
5166694|IGL00971|2|13278408|N->S|0.31|Benign|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|T|C|18|39.5|Non-synonymous|Line Propagating
5166695|IGL00971|8|125747762|T->M|0.19|Benign|MGI:1913816|Ntpcr|nucleoside-triphosphatase, cancer-related [Source:MGI Symbol;Acc:MGI:1913816]|Heterozygous||C|T|18|37.5|Non-synonymous|Line Propagating
5166696|IGL00971|7|4993391|I->T|0.96|Probably damaging|MGI:1915740|Zfp579|zinc finger protein 579 [Source:MGI Symbol;Acc:MGI:1915740]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
5166697|IGL00971|8|122895353|S->P|1.0|Probably damaging|MGI:1924337|Ankrd11|ankyrin repeat domain 11 [Source:MGI Symbol;Acc:MGI:1924337]|Heterozygous|Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.|A|G|16|39.5|Non-synonymous|Line Propagating
5166698|IGL00971|2|10090348|W->R|1.0|Probably damaging|MGI:96676|Kin|antigenic determinant of rec-A protein [Source:MGI Symbol;Acc:MGI:96676]|Heterozygous||T|C|13|38.0|Non-synonymous|Line Propagating
5166699|IGL00971|11|109661051|Y->F||Benign|MGI:104878|Prkar1a|protein kinase, cAMP dependent regulatory, type I, alpha [Source:MGI Symbol;Acc:MGI:104878]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during organogenesis due to developmental patterning defects. Mice heterozygous for a null allele exhibit background sensitive infertility and increased tumor incidence.|A|T|10|41.0|Non-synonymous|Line Propagating
5166702|IGL00971|17|13852313|Disrupted splicing|||MGI:1314653|Mllt4|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 [Source:MGI Symbol;Acc:MGI:1314653]|Heterozygous|Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds.|T|A|43|40.0|Splice|Line Propagating
5166703|IGL00971|1|107428246|Disrupted splicing|||MGI:2151053|Serpinb7|serine (or cysteine) peptidase inhibitor, clade B, member 7 [Source:MGI Symbol;Acc:MGI:2151053]|Heterozygous||A|G|33|40.0|Splice|Line Propagating
5166704|IGL00971|5|118056439|Disrupted splicing|||MGI:1930803|Tesc|tescalcin [Source:MGI Symbol;Acc:MGI:1930803]|Heterozygous||G|A|27|39.0|Splice|Line Propagating
5166705|IGL00971|4|154887832|Disrupted splicing|||MGI:1351603|Mmel1|membrane metallo-endopeptidase-like 1 [Source:MGI Symbol;Acc:MGI:1351603]|Heterozygous|Homozygous null mice display impaired male fertility. Female fertility is not affected.|C|T|13|39.0|Splice|Line Propagating
5166706|IGL00971|18|31447174|Disrupted splicing|||MGI:101759|Syt4|synaptotagmin IV [Source:MGI Symbol;Acc:MGI:101759]|Heterozygous|Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference.|T|C|12|40.5|Splice|Line Propagating
5167331|IGL00972|11|50969119|M->L||Benign|MGI:3031212|Olfr1378|olfactory receptor 1378 [Source:MGI Symbol;Acc:MGI:3031212]|Heterozygous||A|T|243|39.0|Non-synonymous|Line Propagating
5167332|IGL00972|5|145779724|M->K|0.5|Possibly damaging|MGI:2449818|Cyp3a44|cytochrome P450, family 3, subfamily a, polypeptide 44 [Source:MGI Symbol;Acc:MGI:2449818]|Heterozygous||A|T|178|40.0|Non-synonymous|Line Propagating
5167333|IGL00972|6|129906605|E->D|1.0|Probably damaging|MGI:101903|Klra5|killer cell lectin-like receptor, subfamily A, member 5 [Source:MGI Symbol;Acc:MGI:101903]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function.|T|A|167|40.0|Non-synonymous|Line Propagating
5167334|IGL00972|2|32963747|I->T||Benign|MGI:98002|Rpl12|ribosomal protein L12 [Source:MGI Symbol;Acc:MGI:98002]|Heterozygous||T|C|103|40.0|Non-synonymous|Line Propagating
5167336|IGL00972|16|20551684|M->L|0.94|Possibly damaging|MGI:1351656|Abcf3|ATP-binding cassette, sub-family F (GCN20), member 3 [Source:MGI Symbol;Acc:MGI:1351656]|Heterozygous||A|T|94|40.0|Non-synonymous|Line Propagating
5167338|IGL00972|7|29894958|N->K|0.91|Possibly damaging|MGI:99174|Zfp27|zinc finger protein 27 [Source:MGI Symbol;Acc:MGI:99174]|Heterozygous||A|T|89|39.0|Non-synonymous|Line Propagating
5167339|IGL00972|7|21350076|E->G||Benign|MGI:3643535|Vmn1r128|vomeronasal 1 receptor 128 [Source:MGI Symbol;Acc:MGI:3643535]|Heterozygous||A|G|84|37.0|Non-synonymous|Line Propagating
5167340|IGL00972|12|81420649|H->Q|0.52|Possibly damaging|MGI:104731|Adam4|a disintegrin and metallopeptidase domain 4 [Source:MGI Symbol;Acc:MGI:104731]|Heterozygous||A|T|83|40.0|Non-synonymous|Line Propagating
5167341|IGL00972|11|68213272|I->F|0.87|Possibly damaging|MGI:105088|Ntn1|netrin 1 [Source:MGI Symbol;Acc:MGI:105088]|Heterozygous|Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death.|T|A|74|37.0|Non-synonymous|Line Propagating
5167342|IGL00972|17|43701543|I->L||Benign|MGI:1927096|Cyp39a1|cytochrome P450, family 39, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1927096]|Heterozygous||A|T|74|40.0|Non-synonymous|Line Propagating
5167343|IGL00972|1|180999800|F->S|0.01|Benign|MGI:95405|Ephx1|epoxide hydrolase 1, microsomal [Source:MGI Symbol;Acc:MGI:95405]|Heterozygous||A|G|68|39.5|Non-synonymous|Line Propagating
5167344|IGL00972|1|176735696|V->A||Benign|MGI:1918348|Cep170|centrosomal protein 170 [Source:MGI Symbol;Acc:MGI:1918348]|Heterozygous||A|G|66|40.0|Non-synonymous|Line Propagating
5167345|IGL00972|9|119793938|W->R|0.01|Benign|MGI:1345149|Scn11a|sodium channel, voltage-gated, type XI, alpha [Source:MGI Symbol;Acc:MGI:1345149]|Heterozygous|Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal.|A|T|65|39.0|Non-synonymous|Line Propagating
5167346|IGL00972|5|108849037|E->G|0.06|Benign|MGI:3643093|Vmn2r9|vomeronasal 2, receptor 9 [Source:MGI Symbol;Acc:MGI:3643093]|Heterozygous||T|C|62|40.0|Non-synonymous|Line Propagating
5167347|IGL00972|17|36773335|E->V|0.49|Possibly damaging|MGI:1276526|H2-m10.5|histocompatibility 2, M region locus 10.5 [Source:MGI Symbol;Acc:MGI:1276526]|Heterozygous||A|T|61|38.0|Non-synonymous|Line Propagating
5167348|IGL00972|4|53734992|I->N|0.96|Probably damaging|MGI:2179507|Fktn|fukutin [Source:MGI Symbol;Acc:MGI:2179507]|Heterozygous|Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes.|T|A|60|39.0|Non-synonymous|Line Propagating
5167349|IGL00972|4|139660036|R->W|1.0|Probably damaging|MGI:1933546|Tas1r2|taste receptor, type 1, member 2 [Source:MGI Symbol;Acc:MGI:1933546]|Heterozygous|Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired.|C|T|59|35.0|Non-synonymous|Line Propagating
5167350|IGL00972|2|18674665|R->S|0.49|Possibly damaging|MGI:88218|Commd3|COMM domain containing 3 [Source:MGI Symbol;Acc:MGI:88218]|Heterozygous||A|T|57|40.0|Non-synonymous|Line Propagating
5167351|IGL00972|4|120891386|A->E||Benign|MGI:2443331|Rims3|regulating synaptic membrane exocytosis 3 [Source:MGI Symbol;Acc:MGI:2443331]|Heterozygous||C|A|51|39.0|Non-synonymous|Line Propagating
5167352|IGL00972|2|112092094|N->K|1.0|Probably damaging|MGI:3031148|Olfr1314|olfactory receptor 1314 [Source:MGI Symbol;Acc:MGI:3031148]|Heterozygous||A|T|48|40.0|Non-synonymous|Line Propagating
5167354|IGL00972|18|20088363|P->L|0.02|Benign|MGI:109173|Dsc1|desmocollin 1 [Source:MGI Symbol;Acc:MGI:109173]|Heterozygous|Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16.|G|A|46|40.0|Non-synonymous|Line Propagating
5167355|IGL00972|10|62950823|Y->H|0.03|Benign|MGI:2443732|Dna2|DNA replication helicase 2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2443732]|Heterozygous||T|C|40|39.0|Non-synonymous|Line Propagating
5167356|IGL00972|3|134932355|N->K||Benign|MGI:892968|Tacr3|tachykinin receptor 3 [Source:MGI Symbol;Acc:MGI:892968]|Heterozygous||T|G|40|37.0|Non-synonymous|Line Propagating
5167357|IGL00972|7|26457048|S->P||Benign|MGI:2443697|Nlrp4a|NLR family, pyrin domain containing 4A [Source:MGI Symbol;Acc:MGI:2443697]|Heterozygous||T|C|40|41.0|Non-synonymous|Line Propagating
5167358|IGL00972|13|23184388|L->P|1.0|Probably damaging|MGI:2159675|Vmn1r220|vomeronasal 1 receptor 220 [Source:MGI Symbol;Acc:MGI:2159675]|Heterozygous||A|G|36|38.0|Non-synonymous|Line Propagating
5167359|IGL00972|16|59216466|I->T|0.99|Probably damaging|MGI:3030033|Olfr199|olfactory receptor 199 [Source:MGI Symbol;Acc:MGI:3030033]|Heterozygous||A|G|34|39.0|Non-synonymous|Line Propagating
5167360|IGL00972|4|138438317|S->Stop||N/A|MGI:1915600|Mul1|mitochondrial ubiquitin ligase activator of NFKB 1 [Source:MGI Symbol;Acc:MGI:1915600]|Heterozygous||C|A|33|38.0|Non-synonymous|Line Propagating
5167361|IGL00972|4|72122400|R->G|1.0|Probably damaging|MGI:104636|Tle1|transducin-like enhancer of split 1, homolog of Drosophila E(spl) [Source:MGI Symbol;Acc:MGI:104636]|Heterozygous||T|C|32|39.5|Non-synonymous|Line Propagating
5167362|IGL00972|9|7833715|S->L|0.76|Possibly damaging|MGI:1197009|Birc2|baculoviral IAP repeat-containing 2 [Source:MGI Symbol;Acc:MGI:1197009]|Heterozygous|Homozygous null mice showed a modest reduction in the number of lymphocytes.|G|A|32|40.0|Non-synonymous|Line Propagating
5167363|IGL00972|11|113854384|T->M|0.51|Possibly damaging|MGI:2443847|Sdk2|sidekick homolog 2 (chicken) [Source:MGI Symbol;Acc:MGI:2443847]|Heterozygous||G|A|29|39.0|Non-synonymous|Line Propagating
5167364|IGL00972|9|123480076|T->I|0.07|Benign|MGI:1352502|Limd1|LIM domains containing 1 [Source:MGI Symbol;Acc:MGI:1352502]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal basal bone osteoclast numbers and bone density but are resistant to physiological and pathologic osteoclastogenic stimuli.|C|T|27|39.0|Non-synonymous|Line Propagating
5167365|IGL00972|11|94782428|D->G|0.49|Possibly damaging|MGI:3038861, MGI:3604735, MGI:3664267, MGI:99840, MGI:3042917, MGI:3034723, MGI:3640534, MGI:3056341, MGI:4418084, MGI:4418276, MGI:3026894|Tmem92-ps|transmembrane protein 92, pseudogene [Source:MGI Symbol;Acc:MGI:3034723]|Heterozygous||T|C|26|39.5|Non-synonymous|Line Propagating
5167366|IGL00972|17|62613379|I->L|0.65|Possibly damaging|MGI:107444|Efna5|ephrin A5 [Source:MGI Symbol;Acc:MGI:107444]|Heterozygous|Homozygotes for targeted null mutations exhibit abnormalities in establishing correct axonal connections involving the retinal, motor, vomeronasal, and tactile axons to their respective targets. Some mutants develop neural tube defects.|T|A|25|40.0|Non-synonymous|Line Propagating
5167367|IGL00972|10|99015044|I->N|||MGI:104653|Atp2b1|ATPase, Ca++ transporting, plasma membrane 1 [Source:MGI Symbol;Acc:MGI:104653]|Heterozygous|Homozygous null mice display embryonic lethality.|T|A|24|39.0|Non-synonymous|Line Propagating
5167368|IGL00972|11|42133626|E->D|0.66|Possibly damaging|MGI:95613|Gabra1|gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 [Source:MGI Symbol;Acc:MGI:95613]|Heterozygous|Mice homozygous for knockout alleles or ones with various nucleotide substitutions exhibit altered life span, abnormal response to benzodiazepines and imidazopyridines, abnormal behaviors and abnormal synaptic transmission.|T|G|24|39.0|Non-synonymous|Line Propagating
5167369|IGL00972|6|41688066|A->V|0.95|Possibly damaging|MGI:1346053|Kel|Kell blood group [Source:MGI Symbol;Acc:MGI:1346053]|Heterozygous||G|A|24|37.0|Non-synonymous|Line Propagating
5167370|IGL00972|7|13340658|Y->C||Benign|MGI:1196403|Pla2g4c|phospholipase A2, group IVC (cytosolic, calcium-independent) [Source:MGI Symbol;Acc:MGI:1196403]|Heterozygous||A|G|24|41.0|Non-synonymous|Line Propagating
5167371|IGL00972|14|99179449|L->Stop||N/A|MGI:1261910|Pibf1|progesterone immunomodulatory binding factor 1 [Source:MGI Symbol;Acc:MGI:1261910]|Heterozygous||T|A|22|40.0|Non-synonymous|Line Propagating
5167372|IGL00972|9|21034697|V->E|0.86|Possibly damaging|MGI:109430|Icam5|intercellular adhesion molecule 5, telencephalin [Source:MGI Symbol;Acc:MGI:109430]|Heterozygous|Homozygous mutant mice exhibit enhanced long-term potentiation, sensorimotor gating, and reward-based learning.|T|A|22|37.0|Non-synonymous|Line Propagating
5167374|IGL00972|1|180074684|Q->R|0.01|Benign|MGI:2441841|Cdc42bpa|CDC42 binding protein kinase alpha [Source:MGI Symbol;Acc:MGI:2441841]|Heterozygous||A|G|18|41.0|Non-synonymous|Line Propagating
5167375|IGL00972|18|65725501|L->R|0.9|Possibly damaging|MGI:2442915|5330437i02rik|RIKEN cDNA 5330437I02 gene [Source:MGI Symbol;Acc:MGI:2442915]|Heterozygous||T|G|18|41.0|Non-synonymous|Line Propagating
5167376|IGL00972|7|78247322|M->L|0.94|Possibly damaging|MGI:97385|Ntrk3|neurotrophic tyrosine kinase, receptor, type 3 [Source:MGI Symbol;Acc:MGI:97385]|Heterozygous|Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.|T|A|18|37.5|Non-synonymous|Line Propagating
5167377|IGL00972|11|103180955|V->A|0.98|Probably damaging|MGI:1888994|Fmnl1|formin-like 1 [Source:MGI Symbol;Acc:MGI:1888994]|Heterozygous||T|C|17|39.0|Non-synonymous|Line Propagating
5167378|IGL00972|18|32424834|E->V||Benign|MGI:108092|Bin1|bridging integrator 1 [Source:MGI Symbol;Acc:MGI:108092]|Heterozygous|Homozygous mutation of this gene results in thickened ventricular walls, densely packed myocardiocytes, and disorganization of myofibrils. Mutant animals die shortly after birth.|A|T|17|39.0|Non-synonymous|Line Propagating
5167379|IGL00972|12|101894337|I->V|0.38|Benign|MGI:1924393|Trip11|thyroid hormone receptor interactor 11 [Source:MGI Symbol;Acc:MGI:1924393]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects.|T|C|14|39.5|Non-synonymous|Line Propagating
5167380|IGL00972|10|41251788|I->K|0.99|Probably damaging|MGI:2143585|Fig4|FIG4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143585]|Heterozygous|Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.|A|T|13|37.0|Non-synonymous|Line Propagating
5167381|IGL00972|13|67181798|K->N|0.09|Benign|MGI:3044162|Rsl1|regulator of sex limited protein 1 [Source:MGI Symbol;Acc:MGI:3044162]|Heterozygous||A|T|13|41.0|Non-synonymous|Line Propagating
5167382|IGL00972|8|23141644|K->E|0.63|Possibly damaging|MGI:88024|Ank1|ankyrin 1, erythroid [Source:MGI Symbol;Acc:MGI:88024]|Heterozygous|Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.|A|G|13|36.0|Non-synonymous|Line Propagating
5167383|IGL00972|19|6254599|C->Y|1.0|Probably damaging|MGI:1916291|Atg2a|ATG2 autophagy related 2 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1916291]|Heterozygous||G|A|11|41.0|Non-synonymous|Line Propagating
5167384|IGL00972|2|14115968|Disrupted splicing|||MGI:1329014|Stam|signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 [Source:MGI Symbol;Acc:MGI:1329014]|Heterozygous|Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses.|A|T|98|40.0|Splice|Line Propagating
5167385|IGL00972|13|23878454|Disrupted splicing|||MGI:103209|Slc17a1|solute carrier family 17 (sodium phosphate), member 1 [Source:MGI Symbol;Acc:MGI:103209]|Heterozygous||T|A|68|40.0|Splice|Line Propagating
5167386|IGL00972|6|73083157|Disrupted splicing|||MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|G|23|38.0|Splice|Line Propagating
5167387|IGL00972|10|115844139|Disrupted splicing|||MGI:2384918|Tspan8|tetraspanin 8 [Source:MGI Symbol;Acc:MGI:2384918]|Heterozygous||C|T|14|40.5|Splice|Line Propagating
5168036|IGL00973|2|57998939|T->A|0.15|Benign|MGI:2179403|Galnt5|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 [Source:MGI Symbol;Acc:MGI:2179403]|Heterozygous|An unpublished knockout mutation is reported to have no overt phenotypic consequences.|A|G|90|37.0|Non-synonymous|Line Propagating
5168038|IGL00973|9|70338787|T->M|1.0|Probably damaging|MGI:106621|Myo1e|myosin IE [Source:MGI Symbol;Acc:MGI:106621]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects.|C|T|82|39.0|Non-synonymous|Line Propagating
5168039|IGL00973|5|104176892|K->Q|0.85|Possibly damaging|MGI:109172|Dspp|dentin sialophosphoprotein [Source:MGI Symbol;Acc:MGI:109172]|Heterozygous|Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors.|A|C|60|40.5|Non-synonymous|Line Propagating
5168040|IGL00973|3|105981277|Y->Stop||N/A|MGI:106661|Ovgp1|oviductal glycoprotein 1 [Source:MGI Symbol;Acc:MGI:106661]|Heterozygous|Mice homozygous for disruptions in this gene show no phenotypic abnormalities. Female reproduction is essentially normal.|T|A|47|40.0|Non-synonymous|Line Propagating
5168041|IGL00973|14|63948187|H->R||Benign|MGI:98369|Sox7|SRY-box containing gene 7 [Source:MGI Symbol;Acc:MGI:98369]|Heterozygous||A|G|45|37.0|Non-synonymous|Line Propagating
5168042|IGL00973|2|31004950|N->T|1.0|Probably damaging|MGI:1921520|Usp20|ubiquitin specific peptidase 20 [Source:MGI Symbol;Acc:MGI:1921520]|Heterozygous||A|C|43|39.0|Non-synonymous|Line Propagating
5168043|IGL00973|9|37804782|S->R|1.0|Probably damaging|MGI:3030710|Olfr876|olfactory receptor 876 [Source:MGI Symbol;Acc:MGI:3030710]|Heterozygous||C|A|42|40.5|Non-synonymous|Line Propagating
5168044|IGL00973|4|56972369|K->E|0.79|Possibly damaging|MGI:2442704|6430704m03rik|RIKEN cDNA 6430704M03 gene [Source:MGI Symbol;Acc:MGI:2442704]|Heterozygous||T|C|41|40.0|Non-synonymous|Line Propagating
5168045|IGL00973|11|116541205|K->M|1.0|Probably damaging|MGI:2444266|Ube2o|ubiquitin-conjugating enzyme E2O [Source:MGI Symbol;Acc:MGI:2444266]|Heterozygous||T|A|40|37.5|Non-synonymous|Line Propagating
5168046|IGL00973|1|166099458|S->G||Benign|MGI:2685055|Dusp27|dual specificity phosphatase 27 (putative) [Source:MGI Symbol;Acc:MGI:2685055]|Heterozygous||T|C|36|39.0|Non-synonymous|Line Propagating
5168047|IGL00973|1|119741371|M->L|||MGI:1099792|Ptpn4|protein tyrosine phosphatase, non-receptor type 4 [Source:MGI Symbol;Acc:MGI:1099792]|Heterozygous|Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression.|T|A|35|41.0|Non-synonymous|Line Propagating
5168048|IGL00973|11|79955705|W->Stop||N/A|MGI:2445193|Utp6|UTP6, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:2445193]|Heterozygous||C|T|32|39.0|Non-synonymous|Line Propagating
5168049|IGL00973|9|44298139|D->A|1.0|Probably damaging|MGI:2429620|Hinfp|histone H4 transcription factor [Source:MGI Symbol;Acc:MGI:2429620]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with delayed hatching and failure of the blastocyst to expand.|T|G|32|39.0|Non-synonymous|Line Propagating
5168050|IGL00973|14|119869407|Y->F|0.29|Benign|MGI:1354960|Hs6st3|heparan sulfate 6-O-sulfotransferase 3 [Source:MGI Symbol;Acc:MGI:1354960]|Heterozygous||A|T|31|39.0|Non-synonymous|Line Propagating
5168051|IGL00973|17|14913878|H->Q||Benign|MGI:1918932|Wdr27|WD repeat domain 27 [Source:MGI Symbol;Acc:MGI:1918932]|Heterozygous||A|C|31|40.0|Non-synonymous|Line Propagating
5168052|IGL00973|15|23173796|K->R|0.71|Possibly damaging|MGI:1344366|Cdh18|cadherin 18 [Source:MGI Symbol;Acc:MGI:1344366]|Heterozygous||A|G|29|40.0|Non-synonymous|Line Propagating
5168053|IGL00973|17|25722116|A->V|||MGI:2384887|Chtf18|CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2384887]|Heterozygous||G|A|27|38.0|Non-synonymous|Line Propagating
5168054|IGL00973|11|51729577|Q->R||Benign|MGI:1924621|Sec24a|Sec24 related gene family, member A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1924621]|Heterozygous||T|C|26|39.0|Non-synonymous|Line Propagating
5168055|IGL00973|14|34319942|T->I|1.0|Probably damaging|MGI:95753|Glud1|glutamate dehydrogenase 1 [Source:MGI Symbol;Acc:MGI:95753]|Heterozygous|Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets.|C|T|26|38.0|Non-synonymous|Line Propagating
5168057|IGL00973|7|130911013|V->D|0.14|Benign|MGI:2442213|Plekha1|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Source:MGI Symbol;Acc:MGI:2442213]|Heterozygous|Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight.|T|A|24|39.0|Non-synonymous|Line Propagating
5168058|IGL00973|14|73590907|I->T|1.0|Probably damaging|MGI:1306775|Sucla2|succinate-Coenzyme A ligase, ADP-forming, beta subunit [Source:MGI Symbol;Acc:MGI:1306775]|Heterozygous||T|C|23|39.0|Non-synonymous|Line Propagating
5168059|IGL00973|17|34910815|R->C|1.0|Probably damaging|MGI:2148922|Ehmt2|euchromatic histone lysine N-methyltransferase 2 [Source:MGI Symbol;Acc:MGI:2148922]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality around E9.5-E12.5. Mutant embryos are developmentally delayed. Conditional deletion in germ cells results in infertility and arrest of meiosis.|C|T|22|36.5|Non-synonymous|Line Propagating
5168060|IGL00973|4|138275057|T->A||Benign|MGI:1098229|Kif17|kinesin family member 17 [Source:MGI Symbol;Acc:MGI:1098229]|Heterozygous||A|G|18|35.0|Non-synonymous|Line Propagating
5168061|IGL00973|12|72408511|L->Q|0.15|Benign|MGI:1933947|Rtn1|reticulon 1 [Source:MGI Symbol;Acc:MGI:1933947]|Heterozygous||A|T|14|38.0|Non-synonymous|Line Propagating
5168062|IGL00973|7|58807470|D->Y|1.0|Probably damaging|MGI:1330809|Atp10a|ATPase, class V, type 10A [Source:MGI Symbol;Acc:MGI:1330809]|Heterozygous|Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associate with that deletion.|G|T|11|37.0|Non-synonymous|Line Propagating
5168066|IGL00973|4|148013788|Disrupted splicing|||MGI:1347049|Clcn6|chloride channel 6 [Source:MGI Symbol;Acc:MGI:1347049]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease).|A|G|49|39.0|Splice|Line Propagating
5168067|IGL00973|4|45031364|Disrupted splicing|||MGI:1929022|Polr1e|polymerase (RNA) I polypeptide E [Source:MGI Symbol;Acc:MGI:1929022]|Heterozygous||C|A|34|40.0|Splice|Line Propagating
5168068|IGL00973|16|97806167|Disrupted splicing|||MGI:1930121|Prdm15|PR domain containing 15 [Source:MGI Symbol;Acc:MGI:1930121]|Heterozygous||A|T|17|40.0|Splice|Line Propagating
5169932|IGL00976|18|37302948|V->I|0.08|Benign|MGI:2136737|Pcdhb3|protocadherin beta 3 [Source:MGI Symbol;Acc:MGI:2136737]|Heterozygous||G|A|101|39.0|Non-synonymous|Line Propagating
5169933|IGL00976|4|143727015|M->K|1.0|Probably damaging|MGI:3650231|Gm13078|predicted gene 13078 [Source:MGI Symbol;Acc:MGI:3650231]|Heterozygous||T|A|75|39.0|Non-synonymous|Line Propagating
5169934|IGL00976|18|37738942|R->L|0.27|Benign|MGI:1935228|Pcdhga11|protocadherin gamma subfamily A, 11 [Source:MGI Symbol;Acc:MGI:1935228]|Heterozygous||G|T|73|39.0|Non-synonymous|Line Propagating
5169935|IGL00976|19|48767103|N->I|1.0|Probably damaging|MGI:1913923|Sorcs3|sortilin-related VPS10 domain containing receptor 3 [Source:MGI Symbol;Acc:MGI:1913923]|Heterozygous||A|T|69|39.0|Non-synonymous|Line Propagating
5169936|IGL00976|18|77017493|Y->C|0.96|Probably damaging|MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||T|C|60|38.0|Non-synonymous|Line Propagating
5169937|IGL00976|9|39426657|Y->F||Benign|MGI:3030786|Olfr952|olfactory receptor 952 [Source:MGI Symbol;Acc:MGI:3030786]|Heterozygous||T|A|59|40.0|Non-synonymous|Line Propagating
5169938|IGL00976|17|55593204|N->Y|1.0|Probably damaging|MGI:3761695|Vmn2r118|vomeronasal 2, receptor 118 [Source:MGI Symbol;Acc:MGI:3761695]|Heterozygous||T|A|56|40.0|Non-synonymous|Line Propagating
5169939|IGL00976|5|110323572|Y->C||Benign|MGI:1196391|Pole|polymerase (DNA directed), epsilon [Source:MGI Symbol;Acc:MGI:1196391]|Heterozygous|Mice homozygous for a null allele exhibit increased incidence of tumors and premature death.|A|G|55|39.0|Non-synonymous|Line Propagating
5169940|IGL00976|7|27268810|V->A|0.96|Probably damaging|MGI:894702|Numbl|numb-like [Source:MGI Symbol;Acc:MGI:894702]|Heterozygous|Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility.|T|C|50|38.0|Non-synonymous|Line Propagating
5169941|IGL00976|7|78450953|V->I|0.2|Benign|MGI:97385|Ntrk3|neurotrophic tyrosine kinase, receptor, type 3 [Source:MGI Symbol;Acc:MGI:97385]|Heterozygous|Homozygotes for targeted mutations show a range of phenotypes including postnatal death at 2-21 days, cardiac defects, reduced numbers of dorsal root ganglia neurons and germ cells, abnormal motor coordination and posture and abnormal sensory innervation.|C|T|45|39.0|Non-synonymous|Line Propagating
5169942|IGL00976|11|116070467|E->G|1.0|Probably damaging|MGI:1917700|Unc13d|unc-13 homolog D (C. elegans) [Source:MGI Symbol;Acc:MGI:1917700]|Heterozygous|Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.|T|C|44|40.0|Non-synonymous|Line Propagating
5169943|IGL00976|2|164979304|I->N|0.99|Probably damaging|MGI:1862037|Slc12a5|solute carrier family 12, member 5 [Source:MGI Symbol;Acc:MGI:1862037]|Heterozygous|Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures.|T|A|43|37.0|Non-synonymous|Line Propagating
5169944|IGL00976|1|169933740|H->L|0.02|Benign|MGI:1925715|1700084c01rik|RIKEN cDNA 1700084C01 gene [Source:MGI Symbol;Acc:MGI:1925715]|Heterozygous||A|T|39|37.0|Non-synonymous|Line Propagating
5169945|IGL00976|7|30460685|S->A|0.72|Possibly damaging|MGI:1859637|Nphs1|nephrosis 1 homolog, nephrin (human) [Source:MGI Symbol;Acc:MGI:1859637]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.|T|G|36|37.5|Non-synonymous|Line Propagating
5169946|IGL00976|17|57066505|N->S|0.07|Benign|MGI:1918035|Dennd1c|DENN/MADD domain containing 1C [Source:MGI Symbol;Acc:MGI:1918035]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
5169947|IGL00976|19|56797500|T->M|1.0|Probably damaging|MGI:2445022|A630007b06rik|RIKEN cDNA A630007B06 gene [Source:MGI Symbol;Acc:MGI:2445022]|Heterozygous||G|A|35|40.0|Non-synonymous|Line Propagating
5169949|IGL00976|5|30014841|G->S|0.15|Benign|MGI:96559|Il6|interleukin 6 [Source:MGI Symbol;Acc:MGI:96559]|Heterozygous|Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate.|G|A|29|41.0|Non-synonymous|Line Propagating
5169950|IGL00976|8|48256841|M->L|||MGI:1345183|Odz3|odd Oz/ten-m homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1345183]|Heterozygous|Mice homozygous for a null mutation display abnormal ipsilateral retinal ganglion cell projections and impaired performance in visually mediated behavioral tasks.|T|A|28|39.5|Non-synonymous|Line Propagating
5169951|IGL00976|6|146775402|E->G|0.81|Possibly damaging|MGI:1922250|Stk38l|serine/threonine kinase 38 like [Source:MGI Symbol;Acc:MGI:1922250]|Heterozygous||A|G|27|39.0|Non-synonymous|Line Propagating
5169952|IGL00976|4|49541220|V->L|0.97|Probably damaging|MGI:87995|Aldob|aldolase B, fructose-bisphosphate [Source:MGI Symbol;Acc:MGI:87995]|Heterozygous||C|A|24|40.5|Non-synonymous|Line Propagating
5169953|IGL00976|11|29561389|D->N|0.01|Benign|MGI:1920574|1700034f02rik|RIKEN cDNA 1700034F02 gene [Source:MGI Symbol;Acc:MGI:1920574]|Heterozygous||G|A|23|40.0|Non-synonymous|Line Propagating
5169954|IGL00976|19|28763258|V->A|0.62|Possibly damaging|MGI:3646480|Gm6788|predicted gene 6788 [Source:MGI Symbol;Acc:MGI:3646480]|Heterozygous||A|G|21|39.0|Non-synonymous|Line Propagating
5169956|IGL00976|17|30851710|T->A|1.0|Probably damaging|MGI:107714|Dnahc8|dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]|Heterozygous||A|G|20|35.0|Non-synonymous|Line Propagating
5169957|IGL00976|16|26698839|V->A|0.02|Benign|MGI:104975|Il1rap|interleukin 1 receptor accessory protein [Source:MGI Symbol;Acc:MGI:104975]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1.|T|C|19|40.0|Non-synonymous|Line Propagating
5169958|IGL00976|2|120491901|N->S|0.29|Benign|MGI:107437|Capn3|calpain 3 [Source:MGI Symbol;Acc:MGI:107437]|Heterozygous|Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion.|A|G|19|37.0|Non-synonymous|Line Propagating
5169959|IGL00976|13|14318972|D->V|0.93|Possibly damaging|MGI:2444115|Hecw1|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:2444115]|Heterozygous||T|A|18|38.0|Non-synonymous|Line Propagating
5169960|IGL00976|18|60603419|I->T|||MGI:1099446|Synpo|synaptopodin [Source:MGI Symbol;Acc:MGI:1099446]|Heterozygous|Mice homozygous for disruptions in this gene display abnormalities in telencephalic neurons, reduced long term potentiation, and behavioral abnormalities including hypoactivity, reduced anxiety, and learning deficiencies.|A|G|18|40.0|Non-synonymous|Line Propagating
5169961|IGL00976|5|66026738|V->A|0.99|Probably damaging|MGI:2384294|Rbm47|RNA binding motif protein 47 [Source:MGI Symbol;Acc:MGI:2384294]|Heterozygous||A|G|18|35.5|Non-synonymous|Line Propagating
5169962|IGL00976|5|88954798|G->R|1.0|Probably damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|G|A|18|40.0|Non-synonymous|Line Propagating
5169963|IGL00976|6|39144398|S->R|0.81|Possibly damaging|MGI:2443388|Jhdm1d|jumonji C domain-containing histone demethylase 1 homolog D (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2443388]|Heterozygous||G|T|17|39.0|Non-synonymous|Line Propagating
5169964|IGL00976|15|80355645|M->I||Benign|MGI:2178051|Cacna1i|calcium channel, voltage-dependent, alpha 1I subunit [Source:MGI Symbol;Acc:MGI:2178051]|Heterozygous||G|A|16|38.5|Non-synonymous|Line Propagating
5169965|IGL00976|12|104032528|Y->C|1.0|Probably damaging|MGI:1915304|Serpina12|serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 [Source:MGI Symbol;Acc:MGI:1915304]|Heterozygous||T|C|15|39.0|Non-synonymous|Line Propagating
5169967|IGL00976|14|31278138|V->G|1.0|Probably damaging|MGI:107721|Dnahc1|dynein, axonemal, heavy chain 1 [Source:MGI Symbol;Acc:MGI:107721]|Heterozygous|Homozygous mutants are male sterile, and show impaired ciliary and flagellar motility that is also observed in the tracheal cilia.|A|C|14|35.0|Non-synonymous|Line Propagating
5169968|IGL00976|13|64794352|Y->C|0.91|Possibly damaging|MGI:3588199|Cntnap3|contactin associated protein-like 3 [Source:MGI Symbol;Acc:MGI:3588199]|Heterozygous||T|C|13|38.0|Non-synonymous|Line Propagating
5169971|IGL00976|X|37604395|Disrupted splicing|||MGI:3613392|Rhox4f|reproductive homeobox 4F [Source:MGI Symbol;Acc:MGI:3613392]|Heterozygous||T|C|158|40.0|Splice|Line Propagating
5169972|IGL00976|11|73013000|Disrupted splicing|||MGI:1098235|P2rx1|purinergic receptor P2X, ligand-gated ion channel, 1 [Source:MGI Symbol;Acc:MGI:1098235]|Heterozygous|Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism.|T|C|59|40.0|Splice|Line Propagating
5169973|IGL00976|6|141807182|Disrupted splicing|||MGI:1351896|Slco1a4|solute carrier organic anion transporter family, member 1a4 [Source:MGI Symbol;Acc:MGI:1351896]|Heterozygous||T|C|38|40.0|Splice|Line Propagating
5169974|IGL00976|7|44522317|Disrupted splicing|||MGI:1336170|Mybpc2|myosin binding protein C, fast-type [Source:MGI Symbol;Acc:MGI:1336170]|Heterozygous||T|C|37|39.0|Splice|Line Propagating
5169975|IGL00976|18|12684895|Disrupted splicing|||MGI:1919997|Ttc39c|tetratricopeptide repeat domain 39C [Source:MGI Symbol;Acc:MGI:1919997]|Heterozygous||T|C|20|40.0|Splice|Line Propagating
5171850|IGL00979|7|140492701|E->G|0.05|Benign|MGI:3030369|Olfr535|olfactory receptor 535 [Source:MGI Symbol;Acc:MGI:3030369]|Heterozygous||A|G|98|39.0|Non-synonymous|Line Propagating
5171851|IGL00979|2|111754426|M->K|1.0|Probably damaging|MGI:3031135|Olfr1301|olfactory receptor 1301 [Source:MGI Symbol;Acc:MGI:3031135]|Heterozygous||T|A|86|40.0|Non-synonymous|Line Propagating
5171853|IGL00979|2|118696482|L->I|0.97|Probably damaging|MGI:2679420|Pak6|p21 protein (Cdc42/Rac)-activated kinase 6 [Source:MGI Symbol;Acc:MGI:2679420]|Heterozygous||C|A|66|38.0|Non-synonymous|Line Propagating
5171854|IGL00979|5|65631723|V->A||Benign|MGI:1918771|Pds5a|PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918771]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development.|A|G|66|40.0|Non-synonymous|Line Propagating
5171855|IGL00979|10|49355938|N->D|0.92|Possibly damaging|MGI:95815|Grik2|glutamate receptor, ionotropic, kainate 2 (beta 2) [Source:MGI Symbol;Acc:MGI:95815]|Heterozygous|Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration.|T|C|59|40.0|Non-synonymous|Line Propagating
5171856|IGL00979|17|20277575|D->E|0.31|Benign|MGI:3647787|Vmn2r106|vomeronasal 2, receptor 106 [Source:MGI Symbol;Acc:MGI:3647787]|Heterozygous||G|T|54|40.0|Non-synonymous|Line Propagating
5171857|IGL00979|9|15067045|T->K|0.93|Possibly damaging|MGI:2685355|Hephl1|hephaestin-like 1 [Source:MGI Symbol;Acc:MGI:2685355]|Heterozygous||G|T|53|40.0|Non-synonymous|Line Propagating
5171858|IGL00979|11|119500618|V->A|0.96|Probably damaging|MGI:2444688|A730011l01rik|RIKEN cDNA A730011L01 gene [Source:MGI Symbol;Acc:MGI:2444688]|Heterozygous||T|C|50|36.5|Non-synonymous|Line Propagating
5171859|IGL00979|2|150819913|K->E||Benign|MGI:97828|Pygb|brain glycogen phosphorylase [Source:MGI Symbol;Acc:MGI:97828]|Heterozygous||A|G|49|38.0|Non-synonymous|Line Propagating
5171860|IGL00979|6|108471120|A->V|0.99|Probably damaging|MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|C|T|49|38.0|Non-synonymous|Line Propagating
5171861|IGL00979|6|8014810|V->E|1.0|Probably damaging|MGI:2685312|Col28a1|collagen, type XXVIII, alpha 1 [Source:MGI Symbol;Acc:MGI:2685312]|Heterozygous||A|T|44|38.0|Non-synonymous|Line Propagating
5171862|IGL00979|9|37316490|S->N|0.12|Benign|MGI:2444488|Ccdc15|coiled-coil domain containing 15 [Source:MGI Symbol;Acc:MGI:2444488]|Heterozygous||C|T|44|40.0|Non-synonymous|Line Propagating
5171863|IGL00979|15|78348104|V->E|1.0|Probably damaging|MGI:1339759|Csf2rb|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [Source:MGI Symbol;Acc:MGI:1339759]|Heterozygous|Homozygotes for targeted null mutations exhibit lung pathology including lymphocytic infiltration, alveolar proteinosis-like areas, and increased saturated phosphatidylcholine pool sizes. Mutants also have low peripheral eosinophil numbers.|T|A|41|40.0|Non-synonymous|Line Propagating
5171865|IGL00979|10|83550883|T->S||Benign|MGI:2441787|A230046k03rik|RIKEN cDNA A230046K03 gene [Source:MGI Symbol;Acc:MGI:2441787]|Heterozygous||A|T|39|40.0|Non-synonymous|Line Propagating
5171866|IGL00979|8|4235080|L->P|1.0|Probably damaging|MGI:1919517|Lrrc8e|leucine rich repeat containing 8 family, member E [Source:MGI Symbol;Acc:MGI:1919517]|Heterozygous||T|C|38|38.0|Non-synonymous|Line Propagating
5171867|IGL00979|1|75554247|Q->L|1.0|Probably damaging|MGI:109350|Slc4a3|solute carrier family 4 (anion exchanger), member 3 [Source:MGI Symbol;Acc:MGI:109350]|Heterozygous|Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents.|A|T|37|39.0|Non-synonymous|Line Propagating
5171868|IGL00979|12|101415325|T->A|0.79|Possibly damaging|MGI:2443988|Catsperb|cation channel, sperm-associated, beta [Source:MGI Symbol;Acc:MGI:2443988]|Heterozygous||A|G|29|40.0|Non-synonymous|Line Propagating
5171869|IGL00979|1|65171149|T->I|1.0|Probably damaging|MGI:96413|Idh1|isocitrate dehydrogenase 1 (NADP+), soluble [Source:MGI Symbol;Acc:MGI:96413]|Heterozygous|Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequency in M. m. molossinus in Japan.|G|A|28|39.5|Non-synonymous|Line Propagating
5171870|IGL00979|12|73942010|D->G|1.0|Probably damaging|MGI:106918|Hif1a|hypoxia inducible factor 1, alpha subunit [Source:MGI Symbol;Acc:MGI:106918]|Heterozygous|Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia.|A|G|26|39.5|Non-synonymous|Line Propagating
5171871|IGL00979|2|5872020|Y->H|0.46|Possibly damaging|MGI:1931071|Sec61a2|Sec61, alpha subunit 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1931071]|Heterozygous||A|G|25|37.0|Non-synonymous|Line Propagating
5171873|IGL00979|7|28414213|L->Q|1.0|Probably damaging|MGI:2448542|Samd4b|sterile alpha motif domain containing 4B [Source:MGI Symbol;Acc:MGI:2448542]|Heterozygous||A|T|24|37.5|Non-synonymous|Line Propagating
5171874|IGL00979|1|174208390|Y->Stop||N/A|MGI:98385|Spna1|spectrin alpha 1 [Source:MGI Symbol;Acc:MGI:98385]|Heterozygous|Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition.|T|G|22|39.5|Non-synonymous|Line Propagating
5171876|IGL00979|9|99620436|Y->Stop||N/A|MGI:2143261|A4gnt|alpha-1,4-N-acetylglucosaminyltransferase [Source:MGI Symbol;Acc:MGI:2143261]|Heterozygous||T|A|22|38.0|Non-synonymous|Line Propagating
5171877|IGL00979|9|64508727|Y->N|1.0|Probably damaging|MGI:1920951|Megf11|multiple EGF-like-domains 11 [Source:MGI Symbol;Acc:MGI:1920951]|Heterozygous||T|A|21|38.0|Non-synonymous|Line Propagating
5171878|IGL00979|15|103249180|D->G|0.96|Probably damaging|MGI:97308|Nfe2|nuclear factor, erythroid derived 2 [Source:MGI Symbol;Acc:MGI:97308]|Heterozygous|Homozygotes for a targeted null mutation lack platelets and most die as neonates from internal bleeding. Survivors exhibit hypochromia, reticulocytosis, and splenomegaly.|T|C|20|37.5|Non-synonymous|Line Propagating
5171879|IGL00979|4|130818680|I->V||Unknown|MGI:1349163|Sdc3|syndecan 3 [Source:MGI Symbol;Acc:MGI:1349163]|Heterozygous|Homozygotes for a targeted null mutation exhibit enhanced long-term potentiation and impaired hippocampus-dependent memory.|A|G|20|38.5|Non-synonymous|Line Propagating
5171880|IGL00979|1|75410734|P->L|0.03|Benign|MGI:109282|Speg|SPEG complex locus [Source:MGI Symbol;Acc:MGI:109282]|Heterozygous|Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.|C|T|19|40.0|Non-synonymous|Line Propagating
5171881|IGL00979|1|194949508|T->P|0.02|Benign|MGI:88329|Cd34|CD34 antigen [Source:MGI Symbol;Acc:MGI:88329]|Heterozygous||A|C|19|35.0|Non-synonymous|Line Propagating
5171882|IGL00979|16|94456718|V->D|0.87|Possibly damaging|MGI:1276539|Ttc3|tetratricopeptide repeat domain 3 [Source:MGI Symbol;Acc:MGI:1276539]|Heterozygous||T|A|19|39.0|Non-synonymous|Line Propagating
5171883|IGL00979|17|56458243|G->S||Benign|MGI:97815|Ptprs|protein tyrosine phosphatase, receptor type, S [Source:MGI Symbol;Acc:MGI:97815]|Heterozygous|Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impaired olfaction.|C|T|18|39.0|Non-synonymous|Line Propagating
5171884|IGL00979|19|10474499|Stop->W||N/A|MGI:1915002|4930579j09rik|RIKEN cDNA 4930579J09 gene [Source:MGI Symbol;Acc:MGI:1915002]|Heterozygous||T|C|17|39.0|Non-synonymous|Line Propagating
5171885|IGL00979|5|128806441|S->P||Benign|MGI:2443235|Rimbp2|RIMS binding protein 2 [Source:MGI Symbol;Acc:MGI:2443235]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
5171886|IGL00979|7|96729391|E->G|0.61|Possibly damaging|MGI:2447063|Odz4|odd Oz/ten-m homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:2447063]|Heterozygous||A|G|16|39.5|Non-synonymous|Line Propagating
5171887|IGL00979|2|30284731|L->Q|1.0|Probably damaging|MGI:2677836|Dolk|dolichol kinase [Source:MGI Symbol;Acc:MGI:2677836]|Heterozygous||A|T|15|39.0|Non-synonymous|Line Propagating
5171888|IGL00979|5|121873714|F->L|1.0|Probably damaging|MGI:107321|Cux2|cut-like homeobox 2 [Source:MGI Symbol;Acc:MGI:107321]|Heterozygous|Homozygotes for a targeted null mutation exhibit various neural defects.|A|G|15|37.0|Non-synonymous|Line Propagating
5171889|IGL00979|7|29829609|E->G||Benign|MGI:1923431|Zfp790|zinc finger protein 790 [Source:MGI Symbol;Acc:MGI:1923431]|Heterozygous||A|G|12|37.5|Non-synonymous|Line Propagating
5171891|IGL00979|7|80307696|Disrupted splicing|||MGI:1858961|Prc1|protein regulator of cytokinesis 1 [Source:MGI Symbol;Acc:MGI:1858961]|Heterozygous||G|T|44|40.0|Splice|Line Propagating
5171892|IGL00979|3|97747758|Disrupted splicing|||MGI:1891434|Pde4dip|phosphodiesterase 4D interacting protein (myomegalin) [Source:MGI Symbol;Acc:MGI:1891434]|Heterozygous||T|A|31|37.0|Splice|Line Propagating
5171893|IGL00979|3|38452414|Disrupted splicing|||MGI:2139777|Ankrd50|ankyrin repeat domain 50 [Source:MGI Symbol;Acc:MGI:2139777]|Heterozygous||G|A|21|35.0|Splice|Line Propagating
5171895|IGL00979|5|8825293|Disrupted splicing|||MGI:97568|Abcb1b|ATP-binding cassette, sub-family B (MDR/TAP), member 1B [Source:MGI Symbol;Acc:MGI:97568]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins.|A|G|16|40.0|Splice|Line Propagating
5171896|IGL00979|8|45294068|Disrupted splicing|||MGI:102849|Klkb1|kallikrein B, plasma 1 [Source:MGI Symbol;Acc:MGI:102849]|Heterozygous||A|G|10|40.0|Splice|Line Propagating
5171897|IGL00979|8|75054703|Disrupted splicing|||MGI:1338026|Tom1|target of myb1 homolog (chicken) [Source:MGI Symbol;Acc:MGI:1338026]|Heterozygous||C|A|10|37.0|Splice|Line Propagating
5172517|IGL00980|1|88107605|Y->N|0.82|Possibly damaging|MGI:3580642, MGI:3580629, MGI:3032636, MGI:3576092|Ugt1a10,ugt1a6b,ugt1a9,ugt1a7c|UDP glycosyltransferase 1 family, polypeptide A10 [Source:MGI Symbol;Acc:MGI:3580642],UDP glucuronosyltransferase 1 family, polypeptide A6B [Source:MGI Symbol;Acc:MGI:3580629],UDP glucuronosyltransferase 1 family, polypeptide A7C [Source:MGI Symbol;Acc:MGI:3032636],UDP glucuronosyltransferase 1 family, polypeptide A9 [Source:MGI Symbol;Acc:MGI:3576092]|Heterozygous||T|A|185|39.0|Non-synonymous|Line Propagating
5172518|IGL00980|6|50650885|K->E|0.58|Possibly damaging|MGI:1926488|Npvf|neuropeptide VF precursor [Source:MGI Symbol;Acc:MGI:1926488]|Heterozygous||T|C|111|40.0|Non-synonymous|Line Propagating
5172519|IGL00980|3|64117180|M->K|0.03|Benign|MGI:3757666|Vmn2r2|vomeronasal 2, receptor 2 [Source:MGI Symbol;Acc:MGI:3757666]|Heterozygous||A|T|103|39.0|Non-synonymous|Line Propagating
5172520|IGL00980|7|41043726|M->R|0.98|Probably damaging|MGI:3649090|Gm4884|predicted gene 4884 [Source:MGI Symbol;Acc:MGI:3649090]|Heterozygous||T|G|91|39.0|Non-synonymous|Line Propagating
5172521|IGL00980|17|34094563|L->R|1.0|Probably damaging|MGI:95924|H2-oa|histocompatibility 2, O region alpha locus [Source:MGI Symbol;Acc:MGI:95924]|Heterozygous|Homozygous mutation of this gene results in abnormal antigen presentation via MHC class II.|T|G|80|39.0|Non-synonymous|Line Propagating
5172522|IGL00980|9|38025811|V->I|0.02|Benign|MGI:3030717|Olfr883|olfactory receptor 883 [Source:MGI Symbol;Acc:MGI:3030717]|Heterozygous||G|A|79|40.0|Non-synonymous|Line Propagating
5172524|IGL00980|14|66056528|Y->Stop||N/A|MGI:1340894|Adam2|a disintegrin and metallopeptidase domain 2 [Source:MGI Symbol;Acc:MGI:1340894]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to the oviduct, and binding to the egg zona pellucida.|A|T|76|40.0|Non-synonymous|Line Propagating
5172525|IGL00980|7|10171090|Y->F|1.0|Probably damaging|MGI:3695443|Vmn2r52|vomeronasal 2, receptor 52 [Source:MGI Symbol;Acc:MGI:3695443]|Heterozygous||T|A|64|40.0|Non-synonymous|Line Propagating
5172526|IGL00980|6|71332479|C->Stop||N/A|MGI:88347|Cd8b1|CD8 antigen, beta chain 1 [Source:MGI Symbol;Acc:MGI:88347]|Heterozygous|Animals homozygous for a mutation in this gene lack CD8+CD4- cytotoxic T cells in the thymus and spleen and do not mount a cytotoxic response to alloantigens.|C|A|45|39.0|Non-synonymous|Line Propagating
5172527|IGL00980|1|156441341|H->L||Benign|MGI:104665|Soat1|sterol O-acyltransferase 1 [Source:MGI Symbol;Acc:MGI:104665]|Heterozygous|Mutants producing no protein or a truncated protein show depletion of cholesterol esters in adrenal cortex and peritoneal macrophages. Additionally, null mutants have reduced eye openings due to atrophy of meibomian glands.|T|A|42|39.5|Non-synonymous|Line Propagating
5172528|IGL00980|1|169510434|M->T|0.68|Possibly damaging|MGI:1914227|Nuf2|NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914227]|Heterozygous||A|G|42|37.0|Non-synonymous|Line Propagating
5172530|IGL00980|6|40491418|S->P|1.0|Probably damaging|MGI:3606604|Tas2r137|taste receptor, type 2, member 137 [Source:MGI Symbol;Acc:MGI:3606604]|Heterozygous||T|C|38|41.0|Non-synonymous|Line Propagating
5172531|IGL00980|16|48311686|S->P|0.24|Benign|MGI:2157523|Dppa2|developmental pluripotency associated 2 [Source:MGI Symbol;Acc:MGI:2157523]|Heterozygous||T|C|32|38.5|Non-synonymous|Line Propagating
5172532|IGL00980|10|43511566|Q->K|0.81|Possibly damaging|MGI:2677212|Bend3|BEN domain containing 3 [Source:MGI Symbol;Acc:MGI:2677212]|Heterozygous||C|A|31|39.0|Non-synonymous|Line Propagating
5172533|IGL00980|18|60811326|I->F|0.43|Possibly damaging|MGI:96534|Cd74|CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) [Source:MGI Symbol;Acc:MGI:96534]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection.|A|T|31|39.0|Non-synonymous|Line Propagating
5172534|IGL00980|17|29691284|D->E||Benign|MGI:1921407|Ftsjd2|FtsJ methyltransferase domain containing 2 [Source:MGI Symbol;Acc:MGI:1921407]|Heterozygous||T|A|30|40.0|Non-synonymous|Line Propagating
5172535|IGL00980|15|101349998|K->E|0.98|Probably damaging|MGI:1921377|Krt80|keratin 80 [Source:MGI Symbol;Acc:MGI:1921377]|Heterozygous||T|C|29|41.0|Non-synonymous|Line Propagating
5172536|IGL00980|18|44007710|D->Y|1.0|Probably damaging|MGI:1919682|Spink5|serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]|Heterozygous|Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.|G|T|28|40.0|Non-synonymous|Line Propagating
5172537|IGL00980|10|78071971|S->P|1.0|Probably damaging|MGI:1354701|Icosl|icos ligand [Source:MGI Symbol;Acc:MGI:1354701]|Heterozygous|Mice homozygous for disruptions in this gene exhibit defects in the humoral immune response associated with an impaired interactions between T and B cells.|T|C|27|40.0|Non-synonymous|Line Propagating
5172538|IGL00980|3|37000041|T->I|0.99|Probably damaging|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||C|T|26|40.0|Non-synonymous|Line Propagating
5172539|IGL00980|11|106836095|I->S|0.93|Possibly damaging|MGI:1913563|Smurf2|SMAD specific E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:1913563]|Heterozygous|Mice homozygous for a null allele are viable and only display gastrulation defects in combination with a Smurf1 knock-out allele.|A|C|25|38.0|Non-synonymous|Line Propagating
5172540|IGL00980|17|27110956|T->A||Benign|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|A|G|24|35.0|Non-synonymous|Line Propagating
5172541|IGL00980|4|25207181|L->I|1.0|Probably damaging|MGI:1913192|Fhl5|four and a half LIM domains 5 [Source:MGI Symbol;Acc:MGI:1913192]|Heterozygous|Male mice homozygous for disruptions of this gene have reduced sperm counts and abnormal sperm but are none the less fertile.|G|T|24|40.0|Non-synonymous|Line Propagating
5172542|IGL00980|6|48690938|V->D|0.99|Probably damaging|MGI:1349656|Gimap4|GTPase, IMAP family member 4 [Source:MGI Symbol;Acc:MGI:1349656]|Heterozygous|Mice homozygous for a knock-out allele show no detectable alterations in T-cell development, selection and activation; however, mutant T cells exhibit a delay in the execution of programmed cell death induced by intrinsic stimuli downstream of caspase-3 activation and phosphatidylserine exposure.|T|A|23|39.0|Non-synonymous|Line Propagating
5172543|IGL00980|17|87321446|T->P|0.23|Benign|MGI:1920999|Ttc7|tetratricopeptide repeat domain 7 [Source:MGI Symbol;Acc:MGI:1920999]|Heterozygous|Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas.|A|C|19|37.0|Non-synonymous|Line Propagating
5172544|IGL00980|2|164902674|E->Stop||N/A|MGI:2682313|Zfp335|zinc finger protein 335 [Source:MGI Symbol;Acc:MGI:2682313]|Heterozygous||C|A|19|36.0|Non-synonymous|Line Propagating
5172545|IGL00980|11|71788942|N->T|0.59|Possibly damaging|MGI:2448493|Wscd1|WSC domain containing 1 [Source:MGI Symbol;Acc:MGI:2448493]|Heterozygous||A|C|17|38.0|Non-synonymous|Line Propagating
5172546|IGL00980|8|124900298|M->T|0.96|Probably damaging|MGI:2685351|Gm505|predicted gene 505 [Source:MGI Symbol;Acc:MGI:2685351]|Heterozygous||T|C|14|36.5|Non-synonymous|Line Propagating
5172547|IGL00980|5|72786798|L->F|1.0|Probably damaging|MGI:98662|Tec|tec protein tyrosine kinase [Source:MGI Symbol;Acc:MGI:98662]|Heterozygous||G|A|12|40.0|Non-synonymous|Line Propagating
5172548|IGL00980|6|29420258|S->N|0.9|Possibly damaging|MGI:1918128|Ccdc136|coiled-coil domain containing 136 [Source:MGI Symbol;Acc:MGI:1918128]|Heterozygous||G|A|11|39.0|Non-synonymous|Line Propagating
5172549|IGL00980|8|13171195|Disrupted splicing|||MGI:96745|Lamp1|lysosomal-associated membrane protein 1 [Source:MGI Symbol;Acc:MGI:96745]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|G|A|102|40.0|Splice|Line Propagating
5172550|IGL00980|5|86197303|Disrupted splicing|||MGI:95790|Gnrhr|gonadotropin releasing hormone receptor [Source:MGI Symbol;Acc:MGI:95790]|Heterozygous|Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy.|C|T|42|40.0|Splice|Line Propagating
5172551|IGL00980|1|92479680|Disrupted splicing|||MGI:3031250|Olfr1416|olfactory receptor 1416 [Source:MGI Symbol;Acc:MGI:3031250]|Heterozygous||T|C|14|40.5|Splice|Line Propagating
5175727|IGL00985|17|85023707|L->F|||MGI:101841|Ppm1b|protein phosphatase 1B, magnesium dependent, beta isoform [Source:MGI Symbol;Acc:MGI:101841]|Heterozygous|Homozygous mutation of this gene results in early pre-implantation lethality.|G|T|144|40.0|Non-synonymous|Line Propagating
5175729|IGL00985|16|48874325|R->H|1.0|Probably damaging|MGI:2667763|Retnlg|resistin like gamma [Source:MGI Symbol;Acc:MGI:2667763]|Heterozygous||G|A|104|39.5|Non-synonymous|Line Propagating
5175730|IGL00985|13|96410746|K->E|1.0|Probably damaging|MGI:1914713|Poc5|POC5 centriolar protein homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1914713]|Heterozygous||A|G|83|38.0|Non-synonymous|Line Propagating
5175731|IGL00985|5|65252299|D->N|0.95|Possibly damaging|MGI:2443231|Wdr19|WD repeat domain 19 [Source:MGI Symbol;Acc:MGI:2443231]|Heterozygous||G|A|83|40.0|Non-synonymous|Line Propagating
5175732|IGL00985|7|30579927|V->E|0.49|Possibly damaging|MGI:109565|Wbp7|WW domain binding protein 7 [Source:MGI Symbol;Acc:MGI:109565]|Heterozygous||A|T|78|39.0|Non-synonymous|Line Propagating
5175733|IGL00985|2|70003431|T->P|0.6|Possibly damaging|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|A|C|77|39.0|Non-synonymous|Line Propagating
5175734|IGL00985|7|6682760|Y->F|0.73|Possibly damaging|MGI:1341879|Zim1|zinc finger, imprinted 1 [Source:MGI Symbol;Acc:MGI:1341879]|Heterozygous||T|A|73|39.0|Non-synonymous|Line Propagating
5175735|IGL00985|2|34695563|D->V|0.94|Possibly damaging|MGI:1913941|Gapvd1|GTPase activating protein and VPS9 domains 1 [Source:MGI Symbol;Acc:MGI:1913941]|Heterozygous||T|A|72|40.0|Non-synonymous|Line Propagating
5175736|IGL00985|9|53459816|V->E|0.05|Benign|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|A|T|72|38.0|Non-synonymous|Line Propagating
5175737|IGL00985|17|84563928|V->I||Benign|MGI:2146813|Plekhh2|pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 [Source:MGI Symbol;Acc:MGI:2146813]|Heterozygous||G|A|67|40.0|Non-synonymous|Line Propagating
5175738|IGL00985|13|92706271|T->A|1.0|Probably damaging|MGI:2444223|Serinc5|serine incorporator 5 [Source:MGI Symbol;Acc:MGI:2444223]|Heterozygous||A|G|66|38.5|Non-synonymous|Line Propagating
5175739|IGL00985|14|52161691|K->E|0.22|Benign|MGI:1890948|Supt16h|suppressor of Ty 16 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1890948]|Heterozygous||T|C|66|40.0|Non-synonymous|Line Propagating
5175740|IGL00985|12|59188360|G->D|0.2|Benign|MGI:1346056|Ctage5|CTAGE family, member 5 [Source:MGI Symbol;Acc:MGI:1346056]|Heterozygous||G|A|64|39.0|Non-synonymous|Line Propagating
5175741|IGL00985|2|85137663|Y->F|0.02|Benign|MGI:1346086|Aplnr|apelin receptor [Source:MGI Symbol;Acc:MGI:1346086]|Heterozygous|Mice homozygous for a knock-out allele exhibit early lethality, decreased cardiac contractility, and decreased exercise endurance.|A|T|63|38.0|Non-synonymous|Line Propagating
5175742|IGL00985|4|130743789|T->K|0.99|Probably damaging|MGI:1931749|Pum1|pumilio 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1931749]|Heterozygous||C|A|57|39.0|Non-synonymous|Line Propagating
5175743|IGL00985|3|30914197|I->F||Benign|MGI:2181434|Phc3|polyhomeotic-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2181434]|Heterozygous||T|A|54|38.0|Non-synonymous|Line Propagating
5175744|IGL00985|6|146606194|V->I|0.01|Benign|MGI:1914873|Tm7sf3|transmembrane 7 superfamily member 3 [Source:MGI Symbol;Acc:MGI:1914873]|Heterozygous||C|T|54|40.0|Non-synonymous|Line Propagating
5175745|IGL00985|11|12254843|G->W|1.0|Probably damaging|MGI:105056|Cobl|cordon-bleu [Source:MGI Symbol;Acc:MGI:105056]|Heterozygous|Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse.|C|A|51|39.0|Non-synonymous|Line Propagating
5175746|IGL00985|17|24597131|E->G|1.0|Probably damaging|MGI:102548|Tsc2|tuberous sclerosis 2 [Source:MGI Symbol;Acc:MGI:102548]|Heterozygous|Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas.|T|C|49|39.0|Non-synonymous|Line Propagating
5175747|IGL00985|18|44491239|L->Q|0.99|Probably damaging|MGI:96930|Mcc|mutated in colorectal cancers [Source:MGI Symbol;Acc:MGI:96930]|Heterozygous||A|T|47|37.0|Non-synonymous|Line Propagating
5175748|IGL00985|6|132755529|T->I|0.02|Benign|MGI:2681267|Tas2r124|taste receptor, type 2, member 124 [Source:MGI Symbol;Acc:MGI:2681267]|Heterozygous||C|T|47|40.0|Non-synonymous|Line Propagating
5175749|IGL00985|1|96841187|W->R|0.98|Probably damaging|MGI:2442784|Slco4c1|solute carrier organic anion transporter family, member 4C1 [Source:MGI Symbol;Acc:MGI:2442784]|Heterozygous||A|T|46|37.5|Non-synonymous|Line Propagating
5175750|IGL00985|17|24477313|D->E|1.0|Probably damaging|MGI:1929514|Mlst8|MTOR associated protein, LST8 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1929514]|Heterozygous|Mice homozygous for a null mutation exhibit lethality around E10.5 and abnormal yolk sac vasculature, brain development and heart development.|A|T|42|39.0|Non-synonymous|Line Propagating
5175752|IGL00985|5|34644789|L->Q|0.99|Probably damaging|MGI:1922666|Nop14|NOP14 nucleolar protein homolog (yeast) [Source:MGI Symbol;Acc:MGI:1922666]|Heterozygous||A|T|41|40.0|Non-synonymous|Line Propagating
5175754|IGL00985|12|4134600|V->A|0.92|Possibly damaging|MGI:99675|Adcy3|adenylate cyclase 3 [Source:MGI Symbol;Acc:MGI:99675]|Heterozygous|Mice homozygous for one mutation of this gene display impaired olfaction and disorganization of glomeruli in the main olfactory bulb. Mutant animals also appear to be sterile as homozygous matings failed to produce litters. Mice with another mutant allele fail to survive beyond weaning.|T|C|38|39.0|Non-synonymous|Line Propagating
5175755|IGL00985|17|65638549|S->Y|0.9|Possibly damaging|MGI:2389312|Txndc2|thioredoxin domain containing 2 (spermatozoa) [Source:MGI Symbol;Acc:MGI:2389312]|Heterozygous|Homozygous mutation of this gene results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge.|G|T|37|35.0|Non-synonymous|Line Propagating
5175756|IGL00985|5|127504866|S->C|0.8|Possibly damaging|MGI:2443061|Tmem132c|transmembrane protein 132C [Source:MGI Symbol;Acc:MGI:2443061]|Heterozygous||A|T|36|39.5|Non-synonymous|Line Propagating
5175757|IGL00985|11|53465969|V->A||Benign|MGI:1919024|Shroom1|shroom family member 1 [Source:MGI Symbol;Acc:MGI:1919024]|Heterozygous||T|C|35|40.0|Non-synonymous|Line Propagating
5175758|IGL00985|9|121978335|L->P|0.8|Possibly damaging|MGI:3041196|Fam198a|family with sequence similarity 198, member A [Source:MGI Symbol;Acc:MGI:3041196]|Heterozygous||T|C|35|39.0|Non-synonymous|Line Propagating
5175759|IGL00985|2|91135359|E->G|0.1|Benign|MGI:102844|Mybpc3|myosin binding protein C, cardiac [Source:MGI Symbol;Acc:MGI:102844]|Heterozygous|Homozygotes for null or truncated mutations exhibit cardiac abnormalities such as cardiac hypertrophy, dilated cardiomyopathy, abnormal cardiac muscle contractility and relaxation, disorganized myocardium, and cardiac fibrosis.|A|G|34|38.0|Non-synonymous|Line Propagating
5175760|IGL00985|17|33932101|V->A|1.0|Probably damaging|MGI:107483|Rgl2|ral guanine nucleotide dissociation stimulator-like 2 [Source:MGI Symbol;Acc:MGI:107483]|Heterozygous||T|C|32|38.0|Non-synonymous|Line Propagating
5175761|IGL00985|16|45662322|C->F|0.94|Possibly damaging|MGI:2686594|Tmprss7|transmembrane serine protease 7 [Source:MGI Symbol;Acc:MGI:2686594]|Heterozygous||C|A|30|39.0|Non-synonymous|Line Propagating
5175762|IGL00985|7|120397018|G->E|1.0|Probably damaging|MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||G|A|30|39.5|Non-synonymous|Line Propagating
5175763|IGL00985|5|28209154|Y->Stop||N/A|MGI:2442451|Cnpy1|canopy 1 homolog (zebrafish) [Source:MGI Symbol;Acc:MGI:2442451]|Heterozygous||A|T|26|40.5|Non-synonymous|Line Propagating
5175764|IGL00985|6|124845589|T->A|0.18|Benign|MGI:1315208|Leprel2|leprecan-like 2 [Source:MGI Symbol;Acc:MGI:1315208]|Heterozygous||T|C|26|37.5|Non-synonymous|Line Propagating
5175766|IGL00985|5|87784580|S->P|0.81|Possibly damaging|MGI:88542|Csn1s2a|casein alpha s2-like A [Source:MGI Symbol;Acc:MGI:88542]|Heterozygous||T|C|22|39.5|Non-synonymous|Line Propagating
5175767|IGL00985|6|48977547|S->G|0.32|Benign|MGI:3618290|Doxl2|diamine oxidase-like protein 2 [Source:MGI Symbol;Acc:MGI:3618290]|Heterozygous||A|G|22|39.5|Non-synonymous|Line Propagating
5175768|IGL00985|8|126459161|L->I|1.0|Probably damaging|MGI:4936930|Gm17296|predicted gene, 17296 [Source:MGI Symbol;Acc:MGI:4936930]|Heterozygous||A|T|18|40.0|Non-synonymous|Line Propagating
5175770|IGL00985|8|71604863|Disrupted splicing|||MGI:3686743|Fam129c|family with sequence similarity 129, member C [Source:MGI Symbol;Acc:MGI:3686743]|Heterozygous||T|C|65|37.0|Splice|Line Propagating
5175771|IGL00985|7|18180075|Disrupted splicing|||MGI:2685426|Igfl3|IGF-like family member 3 [Source:MGI Symbol;Acc:MGI:2685426]|Heterozygous||T|C|38|39.0|Splice|Line Propagating
5175772|IGL00985|5|143363983|Disrupted splicing|||MGI:2176213|Grid2ip|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1 [Source:MGI Symbol;Acc:MGI:2176213]|Heterozygous|Mice homozygous for a knock-out allele display facilitated long-term depression induction at parallel fiber-Purkinje cell synapses as well as enhanced optokinetic response adaptation.|A|G|20|40.5|Splice|Line Propagating
5175773|IGL00985|10|100567161|Disrupted splicing|||MGI:2384917|Cep290|centrosomal protein 290 [Source:MGI Symbol;Acc:MGI:2384917]|Heterozygous|Mice homozygous for a spontaneous in-frame deletion display mislocalization of ciliary and phototransduction proteins resulting in early-onset retinal degeneration.|T|C|13|41.0|Splice|Line Propagating
5179786|IGL01060|4|121616413|Disrupted splicing|||MGI:3652131|Gm12887|predicted gene 12887 [Source:MGI Symbol;Acc:MGI:3652131]|Heterozygous||C|T|218|37.0|Splice|Line Propagating
5179787|IGL01060|11|69478092|N->S||Benign|MGI:107731|Dnahc2|dynein, axonemal, heavy chain 2 [Source:MGI Symbol;Acc:MGI:107731]|Heterozygous||T|C|147|35.0|Non-synonymous|Line Propagating
5179788|IGL01060|16|38373965|N->K|1.0|Probably damaging|MGI:1930150|Popdc2|popeye domain containing 2 [Source:MGI Symbol;Acc:MGI:1930150]|Heterozygous||T|A|85|37.0|Non-synonymous|Line Propagating
5179789|IGL01060|7|12713089|I->F|0.53|Possibly damaging|MGI:3695438|Vmn2r56|vomeronasal 2, receptor 56 [Source:MGI Symbol;Acc:MGI:3695438]|Heterozygous||T|A|63|37.0|Non-synonymous|Line Propagating
5179790|IGL01060|3|146909582|D->G|0.32|Benign|MGI:1918142|Ttll7|tubulin tyrosine ligase-like family, member 7 [Source:MGI Symbol;Acc:MGI:1918142]|Heterozygous||A|G|51|37.0|Non-synonymous|Line Propagating
5179791|IGL01060|4|133247302|Disrupted splicing|||MGI:1855691|Map3k6|mitogen-activated protein kinase kinase kinase 6 [Source:MGI Symbol;Acc:MGI:1855691]|Heterozygous|Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis.|G|T|49|36.0|Splice|Line Propagating
5179792|IGL01060|X|151469587|P->S||Benign|MGI:2387687|Fam120c|family with sequence similarity 120C [Source:MGI Symbol;Acc:MGI:2387687]|Heterozygous||C|T|48|38.5|Non-synonymous|Line Propagating
5179793|IGL01060|7|30038085|T->A|0.89|Possibly damaging|MGI:99160|Zfp14|zinc finger protein 14 [Source:MGI Symbol;Acc:MGI:99160]|Heterozygous||T|C|47|36.0|Non-synonymous|Line Propagating
5179794|IGL01060|4|141642645|Disrupted splicing|||MGI:1916832|Plekhm2|pleckstrin homology domain containing, family M (with RUN domain) member 2 [Source:MGI Symbol;Acc:MGI:1916832]|Heterozygous||C|T|44|35.5|Splice|Line Propagating
5179795|IGL01060|10|122907571|D->G|0.09|Benign|MGI:2442087|Ppm1h|protein phosphatase 1H (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:2442087]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
5179796|IGL01060|3|62340121|S->T|0.11|Benign|MGI:1918053|Arhgef26|Rho guanine nucleotide exchange factor (GEF) 26 [Source:MGI Symbol;Acc:MGI:1918053]|Heterozygous||T|A|40|35.5|Non-synonymous|Line Propagating
5179797|IGL01060|1|189897470|E->G|0.96|Probably damaging|MGI:1915889|Smyd2|SET and MYND domain containing 2 [Source:MGI Symbol;Acc:MGI:1915889]|Heterozygous||T|C|37|37.0|Non-synonymous|Line Propagating
5179798|IGL01060|X|6980274|N->K|0.85|Possibly damaging|MGI:2183443|Ccnb3|cyclin B3 [Source:MGI Symbol;Acc:MGI:2183443]|Heterozygous||A|T|37|39.0|Non-synonymous|Line Propagating
5179799|IGL01060|4|56784537|Disrupted splicing|||MGI:1914544|Ikbkap|inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein [Source:MGI Symbol;Acc:MGI:1914544]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development.|C|T|33|39.0|Splice|Line Propagating
5179800|IGL01060|13|24982566|G->S|1.0|Probably damaging|MGI:106604|Gpld1|glycosylphosphatidylinositol specific phospholipase D1 [Source:MGI Symbol;Acc:MGI:106604]|Heterozygous||G|A|31|37.0|Non-synonymous|Line Propagating
5179801|IGL01060|7|120173925|T->A|0.88|Possibly damaging|MGI:1919324|Anks4b|ankyrin repeat and sterile alpha motif domain containing 4B [Source:MGI Symbol;Acc:MGI:1919324]|Heterozygous||A|G|27|35.0|Non-synonymous|Line Propagating
5179802|IGL01060|7|19054868|R->Stop||N/A|MGI:1927643|Rsph6a|radial spoke head 6 homolog A (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1927643]|Heterozygous||C|T|23|35.0|Non-synonymous|Line Propagating
5179803|IGL01060|11|62820704|I->T||Benign|MGI:2137356|Trim16|tripartite motif-containing 16 [Source:MGI Symbol;Acc:MGI:2137356]|Heterozygous||T|C|22|38.5|Non-synonymous|Line Propagating
5179804|IGL01060|17|25788832|D->G|0.99|Probably damaging|MGI:2685784|Ccdc78|coiled-coil domain containing 78 [Source:MGI Symbol;Acc:MGI:2685784]|Heterozygous||A|G|22|36.0|Non-synonymous|Line Propagating
5179805|IGL01060|6|48449479|W->Stop||N/A|MGI:2674311|Sspo|SCO-spondin [Source:MGI Symbol;Acc:MGI:2674311]|Heterozygous||G|A|22|38.0|Non-synonymous|Line Propagating
5179807|IGL01060|4|133860870|S->T|0.62|Possibly damaging|MGI:104558|Rps6ka1|ribosomal protein S6 kinase polypeptide 1 [Source:MGI Symbol;Acc:MGI:104558]|Heterozygous||A|T|21|37.0|Non-synonymous|Line Propagating
5179808|IGL01060|2|76889729|K->R||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|20|37.0|Non-synonymous|Line Propagating
5179809|IGL01060|9|111022882|D->V||Benign|MGI:96837|Ltf|lactotransferrin [Source:MGI Symbol;Acc:MGI:96837]|Heterozygous||A|T|20|35.5|Non-synonymous|Line Propagating
5179810|IGL01060|10|23985072|V->A||Benign|MGI:2685074|Taar6|trace amine-associated receptor 6 [Source:MGI Symbol;Acc:MGI:2685074]|Heterozygous||A|G|18|36.0|Non-synonymous|Line Propagating
5179811|IGL01060|13|55263429|G->D|0.66|Possibly damaging|MGI:1276545|Nsd1|nuclear receptor-binding SET-domain protein 1 [Source:MGI Symbol;Acc:MGI:1276545]|Heterozygous|Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10.|G|A|17|39.0|Non-synonymous|Line Propagating
5179812|IGL01060|17|24185828|V->E|1.0|Probably damaging|MGI:2443456|Tbc1d24|TBC1 domain family, member 24 [Source:MGI Symbol;Acc:MGI:2443456]|Heterozygous||A|T|13|40.0|Non-synonymous|Line Propagating
5179813|IGL01060|7|122170092|R->W|0.99|Probably damaging|MGI:1349436|Ern2|endoplasmic reticulum (ER) to nucleus signalling 2 [Source:MGI Symbol;Acc:MGI:1349436]|Heterozygous|Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation.|T|A|12|36.5|Non-synonymous|Line Propagating
5179814|IGL01060|18|31715443|L->P|1.0|Probably damaging|MGI:1919782|Sap130|Sin3A associated protein [Source:MGI Symbol;Acc:MGI:1919782]|Heterozygous||T|C|11|37.0|Non-synonymous|Line Propagating
5179815|IGL01060|15|101860880|Disrupted splicing|||MGI:3588209|Krt77|keratin 77 [Source:MGI Symbol;Acc:MGI:3588209]|Heterozygous||T|A|10|38.0|Splice|Line Propagating
5180423|IGL01061|2|31083042|D->Y|0.8|Possibly damaging|MGI:109606|Fnbp1|formin binding protein 1 [Source:MGI Symbol;Acc:MGI:109606]|Heterozygous||C|A|124|37.0|Non-synonymous|Line Propagating
5180424|IGL01061|6|72357118|D->G|0.67|Possibly damaging|MGI:2385244|Tmem150a|transmembrane protein 150A [Source:MGI Symbol;Acc:MGI:2385244]|Heterozygous||A|G|76|37.0|Non-synonymous|Line Propagating
5180425|IGL01061|6|113497770|K->E||Benign|MGI:2444810|Prrt3|proline-rich transmembrane protein 3 [Source:MGI Symbol;Acc:MGI:2444810]|Heterozygous||T|C|69|38.0|Non-synonymous|Line Propagating
5180426|IGL01061|2|69983225|D->E||Benign|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|T|A|65|38.0|Non-synonymous|Line Propagating
5180427|IGL01061|19|5717888|M->K||Benign|MGI:3612340|Ehbp1l1|EH domain binding protein 1-like 1 [Source:MGI Symbol;Acc:MGI:3612340]|Heterozygous||A|T|64|39.0|Non-synonymous|Line Propagating
5180428|IGL01061|7|141648454|E->G|||MGI:2663233|Muc6|mucin 6, gastric [Source:MGI Symbol;Acc:MGI:2663233]|Heterozygous||T|C|64|33.5|Non-synonymous|Line Propagating
5180429|IGL01061|15|84202254|T->A|0.01|Benign|MGI:1915903|Samm50|sorting and assembly machinery component 50 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915903]|Heterozygous||A|G|63|37.0|Non-synonymous|Line Propagating
5180430|IGL01061|17|37574904|I->T|0.04|Benign|MGI:2177496|Olfr113|olfactory receptor 113 [Source:MGI Symbol;Acc:MGI:2177496]|Heterozygous||A|G|61|38.0|Non-synonymous|Line Propagating
5180431|IGL01061|14|55498630|S->A|0.01|Benign|MGI:2448573|Lrrc16b|leucine rich repeat containing 16B [Source:MGI Symbol;Acc:MGI:2448573]|Heterozygous||T|G|60|37.0|Non-synonymous|Line Propagating
5180432|IGL01061|3|94528980|Disrupted splicing|||MGI:1923992|Snx27|sorting nexin family member 27 [Source:MGI Symbol;Acc:MGI:1923992]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c.|T|A|58|39.0|Splice|Line Propagating
5180433|IGL01061|8|109638706|H->R|0.85|Possibly damaging|MGI:2664670|Pkd1l3|polycystic kidney disease 1 like 3 [Source:MGI Symbol;Acc:MGI:2664670]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.|A|G|54|36.0|Non-synonymous|Line Propagating
5180435|IGL01061|15|89286015|Disrupted splicing|||MGI:1918724|Ppp6r2|protein phosphatase 6, regulatory subunit 2 [Source:MGI Symbol;Acc:MGI:1918724]|Heterozygous||A|T|50|37.0|Splice|Line Propagating
5180436|IGL01061|8|64038454|Disrupted splicing|||MGI:106923|Tll1|tolloid-like [Source:MGI Symbol;Acc:MGI:106923]|Heterozygous|Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.|A|G|48|37.0|Splice|Line Propagating
5180437|IGL01061|13|111714436|Disrupted splicing|||MGI:2442317|Mier3|mesoderm induction early response 1, family member 3 [Source:MGI Symbol;Acc:MGI:2442317]|Heterozygous||T|A|46|38.0|Splice|Line Propagating
5180438|IGL01061|11|22836042|E->V|1.0|Probably damaging|MGI:1889505|B3gnt2|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:1889505]|Heterozygous|Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety.|T|A|44|39.0|Non-synonymous|Line Propagating
5180439|IGL01061|7|139922694|E->D|0.02|Benign|MGI:1923734|Kndc1|kinase non-catalytic C-lobe domain (KIND) containing 1 [Source:MGI Symbol;Acc:MGI:1923734]|Heterozygous|Mice homozygous for a knock-out allele are viable and overtly normal.|A|T|42|37.5|Non-synonymous|Line Propagating
5180440|IGL01061|1|20814496|I->N|0.89|Possibly damaging|MGI:101845|Mcm3|minichromosome maintenance deficient 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:101845]|Heterozygous|Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells.|A|T|41|38.0|Non-synonymous|Line Propagating
5180441|IGL01061|11|6264671|Disrupted splicing|||MGI:1277172|Ddx56|DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 [Source:MGI Symbol;Acc:MGI:1277172]|Heterozygous||C|T|41|36.0|Splice|Line Propagating
5180442|IGL01061|14|55073882|N->Y||Unknown|MGI:2686934|Zfhx2|zinc finger homeobox 2 [Source:MGI Symbol;Acc:MGI:2686934]|Heterozygous||T|A|40|38.0|Non-synonymous|Line Propagating
5180443|IGL01061|18|37643433|T->M|1.0|Probably damaging|MGI:1346348|Taf7|TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:1346348]|Heterozygous||G|A|39|38.0|Non-synonymous|Line Propagating
5180444|IGL01061|7|24104745|D->E|0.27|Benign|MGI:1923701|Zfp180|zinc finger protein 180 [Source:MGI Symbol;Acc:MGI:1923701]|Heterozygous||T|G|38|37.0|Non-synonymous|Line Propagating
5180445|IGL01061|15|88917250|R->C|1.0|Probably damaging|MGI:1922902|Ttll8|tubulin tyrosine ligase-like family, member 8 [Source:MGI Symbol;Acc:MGI:1922902]|Heterozygous||G|A|35|37.0|Non-synonymous|Line Propagating
5180446|IGL01061|12|116229704|A->S|0.03|Benign|MGI:2445085|Wdr60|WD repeat domain 60 [Source:MGI Symbol;Acc:MGI:2445085]|Heterozygous||C|A|34|38.0|Non-synonymous|Line Propagating
5180447|IGL01061|15|57986375|Y->F|0.55|Possibly damaging|MGI:2447773|Fam83a|family with sequence similarity 83, member A [Source:MGI Symbol;Acc:MGI:2447773]|Heterozygous||A|T|33|36.0|Non-synonymous|Line Propagating
5180448|IGL01061|5|73615499|K->E|0.99|Probably damaging|MGI:2387634|Lrrc66|leucine rich repeat containing 66 [Source:MGI Symbol;Acc:MGI:2387634]|Heterozygous||T|C|33|37.0|Non-synonymous|Line Propagating
5180449|IGL01061|11|34705826|V->A|0.99|Probably damaging|MGI:2149010|Dock2|dedicator of cyto-kinesis 2 [Source:MGI Symbol;Acc:MGI:2149010]|Heterozygous|Homozygous mutants are defective in the migration of T and B lympohcytes in response to chemokines, and thus display immune defects such as lymphocytopenia, atrophy of lymphoid follicles and loss of marginal-zone B cells.|A|G|32|37.0|Non-synonymous|Line Propagating
5180450|IGL01061|19|13862705|V->A|0.2|Benign|MGI:3031336|Olfr1502|olfactory receptor 1502 [Source:MGI Symbol;Acc:MGI:3031336]|Heterozygous||T|C|32|38.5|Non-synonymous|Line Propagating
5180451|IGL01061|12|104706327|M->K|||MGI:2177178|Dicer1|dicer 1, ribonuclease type III [Source:MGI Symbol;Acc:MGI:2177178]|Heterozygous|Mutation of this locus results in arrest of early embryonic development.|A|T|30|38.0|Non-synonymous|Line Propagating
5180452|IGL01061|2|121071496|C->S|0.01|Benign|MGI:1921426|Tgm5|transglutaminase 5 [Source:MGI Symbol;Acc:MGI:1921426]|Heterozygous||A|T|30|35.0|Non-synonymous|Line Propagating
5180453|IGL01061|2|174465821|D->G||Benign|MGI:1913640|Slmo2|slowmo homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1913640]|Heterozygous||T|C|29|30.0|Non-synonymous|Line Propagating
5180454|IGL01061|10|84375134|L->F|0.99|Probably damaging|MGI:1925226|Nuak1|NUAK family, SNF1-like kinase, 1 [Source:MGI Symbol;Acc:MGI:1925226]|Heterozygous|Mice homozygous for a targeted disruption of this gene die perinatally displaying omphalocele with a failure in closure of the secondary body wall. No gross morphological defects are detected in brain.|C|A|28|37.0|Non-synonymous|Line Propagating
5180455|IGL01061|10|88770704|N->D|0.18|Benign|MGI:1917933|Utp20|UTP20, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:1917933]|Heterozygous||T|C|27|39.0|Non-synonymous|Line Propagating
5180456|IGL01061|9|36714519|R->C|0.99|Probably damaging|MGI:1202065|Chek1|checkpoint kinase 1 [Source:MGI Symbol;Acc:MGI:1202065]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic lethality between E2.5 and E7.5, impaired cell cycle checkpoint function, increase in blastocyst apoptosis and lack of inner cell mass proliferation.|G|A|27|37.0|Non-synonymous|Line Propagating
5180457|IGL01061|7|5488184|W->R|||MGI:3645468|Vmn2r28|vomeronasal 2, receptor 28 [Source:MGI Symbol;Acc:MGI:3645468]|Heterozygous||A|G|25|36.0|Non-synonymous|Line Propagating
5180458|IGL01061|1|92870974|Disrupted splicing|||MGI:3045261|Ankmy1|ankyrin repeat and MYND domain containing 1 [Source:MGI Symbol;Acc:MGI:3045261]|Heterozygous||A|T|24|36.5|Splice|Line Propagating
5180459|IGL01061|3|20266516|I->L|0.01|Benign|MGI:1923953|Cpb1|carboxypeptidase B1 (tissue) [Source:MGI Symbol;Acc:MGI:1923953]|Heterozygous||T|A|24|37.0|Non-synonymous|Line Propagating
5180460|IGL01061|5|31168354|F->L|0.91|Possibly damaging|MGI:1919002|Gtf3c2|general transcription factor IIIC, polypeptide 2, beta [Source:MGI Symbol;Acc:MGI:1919002]|Heterozygous||A|G|24|40.0|Non-synonymous|Line Propagating
5180461|IGL01061|11|67217862|M->K|0.1|Benign|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|T|A|23|36.0|Non-synonymous|Line Propagating
5180462|IGL01061|2|173688210|D->E|1.0|Probably damaging|MGI:105072|Rab22a|RAB22A, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:105072]|Heterozygous||T|A|23|35.0|Non-synonymous|Line Propagating
5180463|IGL01061|12|40702969|N->T||Benign|MGI:1918006|Dock4|dedicator of cytokinesis 4 [Source:MGI Symbol;Acc:MGI:1918006]|Heterozygous||A|C|22|37.5|Non-synonymous|Line Propagating
5180465|IGL01061|11|72728860|C->Stop||N/A|MGI:1337008|Ankfy1|ankyrin repeat and FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:1337008]|Heterozygous||T|A|19|38.0|Non-synonymous|Line Propagating
5180466|IGL01061|9|53388587|Disrupted splicing|||MGI:1923765|Kdelc2|KDEL (Lys-Asp-Glu-Leu) containing 2 [Source:MGI Symbol;Acc:MGI:1923765]|Heterozygous||A|G|19|38.0|Splice|Line Propagating
5180467|IGL01061|1|135450630|I->T|1.0|Probably damaging|MGI:2183683|Nav1|neuron navigator 1 [Source:MGI Symbol;Acc:MGI:2183683]|Heterozygous||A|G|18|35.5|Non-synonymous|Line Propagating
5180468|IGL01061|14|20447625|Disrupted splicing|||MGI:1923920|Ttc18|tetratricopeptide repeat domain 18 [Source:MGI Symbol;Acc:MGI:1923920]|Heterozygous||T|C|18|39.0|Splice|Line Propagating
5180469|IGL01061|18|35680942|Disrupted splicing|||MGI:1923844|Dnajc18|DnaJ (Hsp40) homolog, subfamily C, member 18 [Source:MGI Symbol;Acc:MGI:1923844]|Heterozygous||A|G|18|38.0|Splice|Line Propagating
5180470|IGL01061|10|10557874|L->P|0.97|Probably damaging|MGI:1915094|Rab32|RAB32, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1915094]|Heterozygous||A|G|15|33.0|Non-synonymous|Line Propagating
5180471|IGL01061|7|105329382|I->T|0.84|Possibly damaging|MGI:3030524|Olfr690|olfactory receptor 690 [Source:MGI Symbol;Acc:MGI:3030524]|Heterozygous||A|G|15|33.0|Non-synonymous|Line Propagating
5181095|IGL01062|6|57113836|S->G|||MGI:2148522|Vmn1r10|vomeronasal 1 receptor 10 [Source:MGI Symbol;Acc:MGI:2148522]|Heterozygous||A|G|151|39.0|Non-synonymous|Line Propagating
5181096|IGL01062|14|4514887|Disrupted splicing|||MGI:3781352|Gm3173|predicted gene 3173 [Source:MGI Symbol;Acc:MGI:3781352]|Heterozygous||T|C|131|37.0|Splice|Line Propagating
5181097|IGL01062|11|84877943|R->G|0.01|Benign|MGI:1917575|Pigw|phosphatidylinositol glycan anchor biosynthesis, class W [Source:MGI Symbol;Acc:MGI:1917575]|Heterozygous||T|C|125|38.0|Non-synonymous|Line Propagating
5181098|IGL01062|5|120919064|Y->Stop||N/A|MGI:2140770|Oas1d|2'-5' oligoadenylate synthetase 1D [Source:MGI Symbol;Acc:MGI:2140770]|Heterozygous|Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation.|C|A|93|36.0|Non-synonymous|Line Propagating
5181099|IGL01062|3|93397182|F->L|||MGI:1099055|Rptn|repetin [Source:MGI Symbol;Acc:MGI:1099055]|Heterozygous||T|A|82|39.0|Non-synonymous|Line Propagating
5181100|IGL01062|2|103743048|I->N|1.0|Probably damaging|MGI:2138939|Nat10|N-acetyltransferase 10 [Source:MGI Symbol;Acc:MGI:2138939]|Heterozygous||A|T|75|37.0|Non-synonymous|Line Propagating
5181101|IGL01062|13|63847454|Q->H|0.99|Probably damaging|MGI:1923501|0610007p08rik|RIKEN cDNA 0610007P08 gene [Source:MGI Symbol;Acc:MGI:1923501]|Heterozygous||G|T|69|40.0|Non-synonymous|Line Propagating
5181103|IGL01062|5|145794339|D->V|0.98|Probably damaging|MGI:2449818|Cyp3a44|cytochrome P450, family 3, subfamily a, polypeptide 44 [Source:MGI Symbol;Acc:MGI:2449818]|Heterozygous||T|A|68|38.0|Non-synonymous|Line Propagating
5181104|IGL01062|5|30864896|I->V|0.12|Benign|MGI:2140967|Mapre3|microtubule-associated protein, RP/EB family, member 3 [Source:MGI Symbol;Acc:MGI:2140967]|Heterozygous||A|G|65|38.0|Non-synonymous|Line Propagating
5181105|IGL01062|18|12905075|V->A||Benign|MGI:1927551|Osbpl1a|oxysterol binding protein-like 1A [Source:MGI Symbol;Acc:MGI:1927551]|Heterozygous||A|G|61|39.0|Non-synonymous|Line Propagating
5181106|IGL01062|2|119076980|I->V|0.01|Benign|MGI:1923714|Casc5|cancer susceptibility candidate 5 [Source:MGI Symbol;Acc:MGI:1923714]|Heterozygous||A|G|58|39.0|Non-synonymous|Line Propagating
5181107|IGL01062|3|116274712|Disrupted splicing|||MGI:2442676|Cdc14a|CDC14 cell division cycle 14A [Source:MGI Symbol;Acc:MGI:2442676]|Heterozygous||T|A|57|39.0|Splice|Line Propagating
5181108|IGL01062|3|88110122|V->L|||MGI:3028642|Iqgap3|IQ motif containing GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:3028642]|Heterozygous||G|T|55|37.0|Non-synonymous|Line Propagating
5181109|IGL01062|11|100713935|H->R|||MGI:1922732|Hspb9|heat shock protein, alpha-crystallin-related, B9 [Source:MGI Symbol;Acc:MGI:1922732]|Heterozygous||A|G|54|34.0|Non-synonymous|Line Propagating
5181110|IGL01062|4|152108496|D->N|1.0|Probably damaging|MGI:2652860|Plekhg5|pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:MGI Symbol;Acc:MGI:2652860]|Heterozygous|Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.|G|A|54|36.5|Non-synonymous|Line Propagating
5181111|IGL01062|16|38601456|L->P|1.0|Probably damaging|MGI:1333857|Arhgap31|Rho GTPase activating protein 31 [Source:MGI Symbol;Acc:MGI:1333857]|Heterozygous||A|G|47|37.0|Non-synonymous|Line Propagating
5181112|IGL01062|14|54282724|M->K|0.94|Possibly damaging|MGI:1333764|Olfr49|olfactory receptor 49 [Source:MGI Symbol;Acc:MGI:1333764]|Heterozygous||A|T|46|36.0|Non-synonymous|Line Propagating
5181113|IGL01062|5|137296307|G->V||Benign|MGI:1933527|Srrt|serrate RNA effector molecule homolog (Arabidopsis) [Source:MGI Symbol;Acc:MGI:1933527]|Heterozygous|Mice homozygous for a null allele display embryonic lethality before somite formation, increased apoptosis, and when cultured most fail to hatch from the zona pellucida.|C|A|46|35.0|Non-synonymous|Line Propagating
5181114|IGL01062|12|76198944|D->G|0.01|Benign|MGI:1931131|Tex21|testis expressed gene 21 [Source:MGI Symbol;Acc:MGI:1931131]|Heterozygous||T|C|44|36.5|Non-synonymous|Line Propagating
5181115|IGL01062|1|89143960|Q->K||Benign|MGI:2138297|Sh3bp4|SH3-domain binding protein 4 [Source:MGI Symbol;Acc:MGI:2138297]|Heterozygous||C|A|39|39.0|Non-synonymous|Line Propagating
5181116|IGL01062|10|122449529|C->Y|1.0|Probably damaging|MGI:1859216|Avpr1a|arginine vasopressin receptor 1A [Source:MGI Symbol;Acc:MGI:1859216]|Heterozygous|Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females. B cell development is also affected.|G|A|39|35.0|Non-synonymous|Line Propagating
5181117|IGL01062|14|54952292|E->G|1.0|Probably damaging|MGI:97255|Myh6|myosin, heavy polypeptide 6, cardiac muscle, alpha [Source:MGI Symbol;Acc:MGI:97255]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects. Mice heterozygous for a knock-out allele exhibit abnormal heart morphology and physiology. Mice heterozygous for a knock-in allele exhibit dilated or hypertrophic cardiomyopathy.|T|C|39|34.0|Non-synonymous|Line Propagating
5181118|IGL01062|11|50874206|E->G|0.14|Benign|MGI:2679253|Zfp454|zinc finger protein 454 [Source:MGI Symbol;Acc:MGI:2679253]|Heterozygous||T|C|37|38.0|Non-synonymous|Line Propagating
5181119|IGL01062|X|159553419|Y->H||Benign|MGI:2685992|A830080d01rik|RIKEN cDNA A830080D01 gene [Source:MGI Symbol;Acc:MGI:2685992]|Heterozygous||T|C|37|38.0|Non-synonymous|Line Propagating
5181120|IGL01062|1|75201238|I->N|0.99|Probably damaging|MGI:1921827|Glb1l|galactosidase, beta 1-like [Source:MGI Symbol;Acc:MGI:1921827]|Heterozygous||A|T|36|38.0|Non-synonymous|Line Propagating
5181121|IGL01062|13|76155462|L->Stop||N/A|MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||T|A|35|37.0|Non-synonymous|Line Propagating
5181122|IGL01062|4|41118205|I->V||Benign|MGI:2140151|Nol6|nucleolar protein family 6 (RNA-associated) [Source:MGI Symbol;Acc:MGI:2140151]|Heterozygous||T|C|32|37.5|Non-synonymous|Line Propagating
5181123|IGL01062|1|185379615|E->G|0.31|Benign|MGI:97838|Eprs|glutamyl-prolyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:97838]|Heterozygous||A|G|31|38.0|Non-synonymous|Line Propagating
5181124|IGL01062|15|101228896|Disrupted splicing|||MGI:1860303|Grasp|GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein [Source:MGI Symbol;Acc:MGI:1860303]|Heterozygous|Mice homozygous for targeted null mutations develop and behave normally under ordinary conditions but display a marked reduction in sensitivity to acute morphine responses and impaired adaptive responses to morphine and cocaine.|A|G|31|35.0|Splice|Line Propagating
5181125|IGL01062|2|181797729|V->D|0.99|Probably damaging|MGI:1100535|Myt1|myelin transcription factor 1 [Source:MGI Symbol;Acc:MGI:1100535]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.|T|A|30|35.5|Non-synonymous|Line Propagating
5181126|IGL01062|4|134833297|V->E|0.18|Benign|MGI:1913396|Tmem57|transmembrane protein 57 [Source:MGI Symbol;Acc:MGI:1913396]|Heterozygous||A|T|30|39.0|Non-synonymous|Line Propagating
5181128|IGL01062|1|34586739|K->E|0.9|Possibly damaging|MGI:3026939|Fam123c|family with sequence similarity 123, member C [Source:MGI Symbol;Acc:MGI:3026939]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
5181129|IGL01062|6|106618278|Disrupted splicing|||MGI:1095737|Cntn4|contactin 4 [Source:MGI Symbol;Acc:MGI:1095737]|Heterozygous|Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb.|T|C|26|39.5|Splice|Line Propagating
5181130|IGL01062|11|72874969|C->S||Benign|MGI:2444286|Zzef1|zinc finger, ZZ-type with EF hand domain 1 [Source:MGI Symbol;Acc:MGI:2444286]|Heterozygous||T|A|21|38.0|Non-synonymous|Line Propagating
5181131|IGL01062|9|37406000|S->N||Benign|MGI:1921394|Robo4|roundabout homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921394]|Heterozygous||G|A|20|38.0|Non-synonymous|Line Propagating
5181132|IGL01062|10|28580418|V->A|0.8|Possibly damaging|MGI:103310|Ptprk|protein tyrosine phosphatase, receptor type, K [Source:MGI Symbol;Acc:MGI:103310]|Heterozygous||T|C|19|39.0|Non-synonymous|Line Propagating
5181133|IGL01062|4|41511433|E->D|0.97|Probably damaging|MGI:1920971|1110017d15rik|RIKEN cDNA 1110017D15 gene [Source:MGI Symbol;Acc:MGI:1920971]|Heterozygous||T|A|19|33.0|Non-synonymous|Line Propagating
5181134|IGL01062|3|131240991|V->M|1.0|Probably damaging|MGI:96009|Hadh|hydroxyacyl-Coenzyme A dehydrogenase [Source:MGI Symbol;Acc:MGI:96009]|Heterozygous||C|T|17|38.0|Non-synonymous|Line Propagating
5181135|IGL01062|9|15279621|E->G|0.01|Benign|MGI:2182585|Med17|mediator complex subunit 17 [Source:MGI Symbol;Acc:MGI:2182585]|Heterozygous||T|C|15|33.0|Non-synonymous|Line Propagating
5181136|IGL01062|10|67226715|S->P|1.0|Probably damaging|MGI:1918614|Jmjd1c|jumonji domain containing 1C [Source:MGI Symbol;Acc:MGI:1918614]|Heterozygous||T|C|14|37.0|Non-synonymous|Line Propagating
5181137|IGL01062|8|89033344|V->A|0.98|Probably damaging|MGI:1889585|Sall1|sal-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1889585]|Heterozygous|Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys.|A|G|14|39.0|Non-synonymous|Line Propagating
5181743|IGL01063|6|116541007|C->S|1.0|Probably damaging|MGI:3030047|Olfr213|olfactory receptor 213 [Source:MGI Symbol;Acc:MGI:3030047]|Heterozygous||T|A|150|39.0|Non-synonymous|Line Propagating
5181744|IGL01063|9|40187756|I->F||Benign|MGI:3030820|Olfr986|olfactory receptor 986 [Source:MGI Symbol;Acc:MGI:3030820]|Heterozygous||A|T|142|38.0|Non-synonymous|Line Propagating
5181745|IGL01063|7|107967534|I->F|1.0|Probably damaging|MGI:3030310|Olfr476|olfactory receptor 476 [Source:MGI Symbol;Acc:MGI:3030310]|Heterozygous||A|T|133|38.0|Non-synonymous|Line Propagating
5181746|IGL01063|4|3591292|F->I|0.96|Probably damaging|MGI:2151797|Tgs1|trimethylguanosine synthase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2151797]|Heterozygous||T|A|115|39.0|Non-synonymous|Line Propagating
5181747|IGL01063|5|98969936|Disrupted splicing|||MGI:108173|Prkg2|protein kinase, cGMP-dependent, type II [Source:MGI Symbol;Acc:MGI:108173]|Heterozygous|Homozygous null mice exhibit dwarfism, with abnormal skull morphology and short limbs and vertebrae. Defects in axial organization of the growth plates was evident as mice aged. Digestive secretion in response to enterotoxin was reduced.|C|T|110|39.0|Splice|Line Propagating
5181748|IGL01063|6|113266326|F->I|0.36|Benign|MGI:1916075|Mtmr14|myotubularin related protein 14 [Source:MGI Symbol;Acc:MGI:1916075]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired coordination, decreased exercise endurance, increased muscle fatigue, and muscle atrophy associated with impaired muscular calcium homeostasis.|T|A|102|38.0|Non-synonymous|Line Propagating
5181749|IGL01063|7|135694922|D->E|0.97|Probably damaging|MGI:106035|Mki67|antigen identified by monoclonal antibody Ki 67 [Source:MGI Symbol;Acc:MGI:106035]|Heterozygous||A|T|83|36.0|Non-synonymous|Line Propagating
5181751|IGL01063|5|104207099|M->I||Benign|MGI:94910|Dmp1|dentin matrix protein 1 [Source:MGI Symbol;Acc:MGI:94910]|Heterozygous|Homozygous null mice do not exhibit an overt phenotype. Skeletal development is largely normal showing only modest increases in the size of the hypertrophic chondrocyte zones and the diameter of long bones.|G|A|79|38.0|Non-synonymous|Line Propagating
5181752|IGL01063|7|55904210|F->I|1.0|Probably damaging|MGI:1338801|Cyfip1|cytoplasmic FMR1 interacting protein 1 [Source:MGI Symbol;Acc:MGI:1338801]|Heterozygous|Mutations at this locus result in embryonic lethality before the turning stage in homozygotes.|T|A|78|40.0|Non-synonymous|Line Propagating
5181753|IGL01063|11|106330364|I->N|||MGI:98250|Scn4a|sodium channel, voltage-gated, type IV, alpha [Source:MGI Symbol;Acc:MGI:98250]|Heterozygous|Mice heterozygous or homozygous for a knock-in allele develop myotonia, increased myofiber damage, K+-sensitive paralysis and susceptibility to delayed weakness during recovery from fatigue. Homozygotes show perinatal lethality, low survival rate, unusual hind-limb clasping and reduced body weight.|A|T|75|36.0|Non-synonymous|Line Propagating
5181754|IGL01063|10|80011297|I->T|0.22|Benign|MGI:1351646|Abca7|ATP-binding cassette, sub-family A (ABC1), member 7 [Source:MGI Symbol;Acc:MGI:1351646]|Heterozygous|Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size.|T|C|72|37.0|Non-synonymous|Line Propagating
5181755|IGL01063|12|76198818|H->R|0.12|Benign|MGI:1931131|Tex21|testis expressed gene 21 [Source:MGI Symbol;Acc:MGI:1931131]|Heterozygous||T|C|66|38.0|Non-synonymous|Line Propagating
5181756|IGL01063|15|84054512|M->K|0.01|Benign|MGI:1924877|Efcab6|EF-hand calcium binding domain 6 [Source:MGI Symbol;Acc:MGI:1924877]|Heterozygous||A|T|61|40.0|Non-synonymous|Line Propagating
5181757|IGL01063|2|181109789|Disrupted splicing|||MGI:1309503|Kcnq2|potassium voltage-gated channel, subfamily Q, member 2 [Source:MGI Symbol;Acc:MGI:1309503]|Heterozygous|Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.|A|G|56|35.5|Splice|Line Propagating
5181758|IGL01063|15|95948429|I->T|1.0|Probably damaging|MGI:2145890|Ano6|anoctamin 6 [Source:MGI Symbol;Acc:MGI:2145890]|Heterozygous||T|C|52|37.5|Non-synonymous|Line Propagating
5181759|IGL01063|3|38890579|A->D|0.04|Benign|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||C|A|48|37.0|Non-synonymous|Line Propagating
5181760|IGL01063|1|157105097|Disrupted splicing|||MGI:1920685|1700057k13rik|RIKEN cDNA 1700057K13 gene [Source:MGI Symbol;Acc:MGI:1920685]|Heterozygous||T|C|46|37.0|Splice|Line Propagating
5181761|IGL01063|16|57192675|D->E|0.22|Benign|MGI:1914831|Tbc1d23|TBC1 domain family, member 23 [Source:MGI Symbol;Acc:MGI:1914831]|Heterozygous||A|T|46|36.0|Non-synonymous|Line Propagating
5181762|IGL01063|X|99073088|R->L|1.0|Probably damaging|MGI:2448556|Stard8|START domain containing 8 [Source:MGI Symbol;Acc:MGI:2448556]|Heterozygous||G|T|46|36.0|Non-synonymous|Line Propagating
5181763|IGL01063|1|90802332|K->E|||MGI:88461|Col6a3|collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]|Heterozygous||T|C|42|37.0|Non-synonymous|Line Propagating
5181764|IGL01063|6|39165130|F->L|0.8|Possibly damaging|MGI:2443388|Jhdm1d|jumonji C domain-containing histone demethylase 1 homolog D (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2443388]|Heterozygous||A|G|38|38.5|Non-synonymous|Line Propagating
5181765|IGL01063|5|137114500|V->D|0.66|Possibly damaging|MGI:2685298|Trim56|tripartite motif-containing 56 [Source:MGI Symbol;Acc:MGI:2685298]|Heterozygous||A|T|37|30.0|Non-synonymous|Line Propagating
5181766|IGL01063|16|85899834|L->P|1.0|Probably damaging|MGI:1346321|Adamts5|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) [Source:MGI Symbol;Acc:MGI:1346321]|Heterozygous|Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect.|A|G|35|37.0|Non-synonymous|Line Propagating
5181767|IGL01063|11|113830842|V->A|1.0|Probably damaging|MGI:2443847|Sdk2|sidekick homolog 2 (chicken) [Source:MGI Symbol;Acc:MGI:2443847]|Heterozygous||A|G|33|36.0|Non-synonymous|Line Propagating
5181768|IGL01063|15|89123868|A->E|0.18|Benign|MGI:2158340|Hdac10|histone deacetylase 10 [Source:MGI Symbol;Acc:MGI:2158340]|Heterozygous||G|T|33|35.0|Non-synonymous|Line Propagating
5181769|IGL01063|6|113338372|D->V|0.93|Possibly damaging|MGI:1098535|Camk1|calcium/calmodulin-dependent protein kinase I [Source:MGI Symbol;Acc:MGI:1098535]|Heterozygous||T|A|30|35.0|Non-synonymous|Line Propagating
5181770|IGL01063|18|76965273|Disrupted splicing|||MGI:1924237|Hdhd2|haloacid dehalogenase-like hydrolase domain containing 2 [Source:MGI Symbol;Acc:MGI:1924237]|Heterozygous||T|C|29|36.0|Splice|Line Propagating
5181771|IGL01063|1|67195166|L->P|1.0|Probably damaging|MGI:891996|Cps1|carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]|Heterozygous|Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.|T|C|28|40.0|Non-synonymous|Line Propagating
5181772|IGL01063|14|7926518|Disrupted splicing|||MGI:2446089|Flnb|filamin, beta [Source:MGI Symbol;Acc:MGI:2446089]|Heterozygous|Mouse homozygous for disruption of coding region due to a gene trapped vector exhibit partial prenatal and postnatal lethality, alteration in skeletal system including fusion of vertebrae and other skeletal elements.|T|C|27|38.0|Splice|Line Propagating
5181773|IGL01063|6|147029697|M->K|0.01|Benign|MGI:1914783|Ppfibp1|PTPRF interacting protein, binding protein 1 (liprin beta 1) [Source:MGI Symbol;Acc:MGI:1914783]|Heterozygous||T|A|25|39.0|Non-synonymous|Line Propagating
5181774|IGL01063|7|3162313|I->V|0.59|Possibly damaging|MGI:2142124|Au018091|expressed sequence AU018091 [Source:MGI Symbol;Acc:MGI:2142124]|Heterozygous||T|C|25|37.0|Non-synonymous|Line Propagating
5181775|IGL01063|11|101181788|D->G||Benign|MGI:1858201|Cntnap1|contactin associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1858201]|Heterozygous|Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and and ataxia.|A|G|24|38.5|Non-synonymous|Line Propagating
5181776|IGL01063|17|38082653|S->R|0.01|Benign|MGI:2177514|Olfr131|olfactory receptor 131 [Source:MGI Symbol;Acc:MGI:2177514]|Heterozygous||G|T|24|39.0|Non-synonymous|Line Propagating
5181778|IGL01063|3|89177666|Disrupted splicing|||MGI:1346346|Scamp3|secretory carrier membrane protein 3 [Source:MGI Symbol;Acc:MGI:1346346]|Heterozygous||C|A|23|32.0|Splice|Line Propagating
5181779|IGL01063|7|127866282|C->S|0.62|Possibly damaging|MGI:2442943|Zfp668|zinc finger protein 668 [Source:MGI Symbol;Acc:MGI:2442943]|Heterozygous||A|T|23|36.0|Non-synonymous|Line Propagating
5181781|IGL01063|15|13064495|I->S|1.0|Probably damaging|MGI:107435|Cdh6|cadherin 6 [Source:MGI Symbol;Acc:MGI:107435]|Heterozygous|Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons.|A|C|20|38.0|Non-synonymous|Line Propagating
5181782|IGL01063|1|39682950|K->Stop||N/A|MGI:3588206|Rfx8|regulatory factor X 8 [Source:MGI Symbol;Acc:MGI:3588206]|Heterozygous||T|A|19|40.0|Non-synonymous|Line Propagating
5181783|IGL01063|10|84868382|E->G|0.08|Benign|MGI:1918387|Rfx4|regulatory factor X, 4 (influences HLA class II expression) [Source:MGI Symbol;Acc:MGI:1918387]|Heterozygous|Inactivating null allele or homozygous point mutation allele exhibit missing dorsal midline structure of the cortex including the subcommissural organ. Heterozygous null mice have congenital hydrocephalus. Homozygous null mice die within 1 hours of birth.|A|G|19|38.0|Non-synonymous|Line Propagating
5181784|IGL01063|19|57061328|I->F|1.0|Probably damaging|MGI:1194500|Ablim1|actin-binding LIM protein 1 [Source:MGI Symbol;Acc:MGI:1194500]|Heterozygous|Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.|T|A|18|37.0|Non-synonymous|Line Propagating
5181785|IGL01063|3|116027482|H->L|0.84|Possibly damaging|MGI:1889574|Extl2|exostoses (multiple)-like 2 [Source:MGI Symbol;Acc:MGI:1889574]|Heterozygous||A|T|16|36.0|Non-synonymous|Line Propagating
5181786|IGL01063|1|16078646|L->Stop||N/A|MGI:1923049|4930444p10rik|RIKEN cDNA 4930444P10 gene [Source:MGI Symbol;Acc:MGI:1923049]|Heterozygous||A|T|14|39.0|Non-synonymous|Line Propagating
5181787|IGL01063|2|49943630|Disrupted splicing|||MGI:1919147|Lypd6b|LY6/PLAUR domain containing 6B [Source:MGI Symbol;Acc:MGI:1919147]|Heterozygous||C|A|14|38.0|Splice|Line Propagating
5181788|IGL01063|7|81372181|E->D|0.01|Benign|MGI:108442|Cpeb1|cytoplasmic polyadenylation element binding protein 1 [Source:MGI Symbol;Acc:MGI:108442]|Heterozygous|Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity.|T|A|13|40.0|Non-synonymous|Line Propagating
5181789|IGL01063|5|51474322|V->L||Unknown|MGI:1342774|Ppargc1a|peroxisome proliferative activated receptor, gamma, coactivator 1 alpha [Source:MGI Symbol;Acc:MGI:1342774]|Heterozygous|Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping.|C|A|11|35.0|Non-synonymous|Line Propagating
5181790|IGL01063|9|110573673|V->A|1.0|Probably damaging|MGI:1918177|Setd2|SET domain containing 2 [Source:MGI Symbol;Acc:MGI:1918177]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5.|T|C|10|37.5|Non-synonymous|Line Propagating
5182420|IGL01064|11|33633192|D->N|1.0|Probably damaging|MGI:1917607|Kcnip1|Kv channel-interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917607]|Heterozygous||C|T|158|39.0|Non-synonymous|Alive, Line Propagating
5182421|IGL01064|7|103979792|Y->F|||MGI:3030469|Olfr635|olfactory receptor 635 [Source:MGI Symbol;Acc:MGI:3030469]|Heterozygous||A|T|133|37.0|Non-synonymous|Alive, Line Propagating
5182422|IGL01064|17|18022517|L->H|1.0|Probably damaging|MGI:1278317|Fpr-rs4|formyl peptide receptor, related sequence 4 [Source:MGI Symbol;Acc:MGI:1278317]|Heterozygous||T|A|106|39.0|Non-synonymous|Alive, Line Propagating
5182423|IGL01064|5|8732388|Y->H|0.53|Possibly damaging|MGI:97570|Abcb1a|ATP-binding cassette, sub-family B (MDR/TAP), member 1A [Source:MGI Symbol;Acc:MGI:97570]|Heterozygous|Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine.|T|C|87|38.0|Non-synonymous|Alive, Line Propagating
5182424|IGL01064|4|118916894|M->K|0.2|Benign|MGI:3031163|Olfr1329|olfactory receptor 1329 [Source:MGI Symbol;Acc:MGI:3031163]|Heterozygous||A|T|85|39.0|Non-synonymous|Alive, Line Propagating
5182425|IGL01064|19|13411226|I->T||Benign|MGI:3031303|Olfr1469|olfactory receptor 1469 [Source:MGI Symbol;Acc:MGI:3031303]|Heterozygous||T|C|80|39.0|Non-synonymous|Alive, Line Propagating
5182426|IGL01064|3|141211015|H->R|0.6|Possibly damaging|MGI:97533|Pdha2|pyruvate dehydrogenase E1 alpha 2 [Source:MGI Symbol;Acc:MGI:97533]|Heterozygous||T|C|78|37.0|Non-synonymous|Alive, Line Propagating
5182427|IGL01064|18|20340206|I->F|1.0|Probably damaging|MGI:94930|Dsg1a|desmoglein 1 alpha [Source:MGI Symbol;Acc:MGI:94930]|Heterozygous||A|T|71|38.0|Non-synonymous|Alive, Line Propagating
5182428|IGL01064|11|9483855|T->S||Benign|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||A|T|68|37.5|Non-synonymous|Alive, Line Propagating
5182429|IGL01064|11|70603481|M->L|||MGI:1355329|Mink1|misshapen-like kinase 1 (zebrafish) [Source:MGI Symbol;Acc:MGI:1355329]|Heterozygous||A|T|65|36.0|Non-synonymous|Alive, Line Propagating
5182430|IGL01064|4|11604866|G->D|1.0|Probably damaging|MGI:3605986|Rad54b|RAD54 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3605986]|Heterozygous||G|A|62|39.0|Non-synonymous|Alive, Line Propagating
5182431|IGL01064|X|167308211|E->V|1.0|Probably damaging|MGI:2176882|Tlr7|toll-like receptor 7 [Source:MGI Symbol;Acc:MGI:2176882]|Heterozygous|The innate immune response to viral infection is affected in homozygous null mice. Mice homozygous or hemizygous for a point mutation produce little or no tumor necrosis factor (TNF) alpha in response to stimulation by a single stranded RNA analog.|T|A|54|38.0|Non-synonymous|Alive, Line Propagating
5182432|IGL01064|4|138873558|P->S||Unknown|MGI:3651765|Gm13030|predicted gene 13030 [Source:MGI Symbol;Acc:MGI:3651765]|Heterozygous||G|A|53|39.0|Non-synonymous|Alive, Line Propagating
5182433|IGL01064|7|141807473|N->I|0.02|Benign|MGI:104697|Muc5ac|mucin 5, subtypes A and C, tracheobronchial/gastric [Source:MGI Symbol;Acc:MGI:104697]|Heterozygous||A|T|50|36.0|Non-synonymous|Alive, Line Propagating
5182434|IGL01064|14|55512730|F->S|0.99|Probably damaging|MGI:1334445|Cpne6|copine VI [Source:MGI Symbol;Acc:MGI:1334445]|Heterozygous||T|C|48|35.0|Non-synonymous|Alive, Line Propagating
5182435|IGL01064|7|127559892|V->A|0.61|Possibly damaging|MGI:2444036|Srcap|Snf2-related CREBBP activator protein [Source:MGI Symbol;Acc:MGI:2444036]|Heterozygous||T|C|42|35.0|Non-synonymous|Alive, Line Propagating
5182436|IGL01064|X|9905595|H->R||Benign|MGI:2668451|Sytl5|synaptotagmin-like 5 [Source:MGI Symbol;Acc:MGI:2668451]|Heterozygous||A|G|41|37.0|Non-synonymous|Alive, Line Propagating
5182437|IGL01064|18|42319814|V->A|0.18|Benign|MGI:2147194|Rbm27|RNA binding motif protein 27 [Source:MGI Symbol;Acc:MGI:2147194]|Heterozygous||T|C|40|38.0|Non-synonymous|Alive, Line Propagating
5182438|IGL01064|6|49055659|I->V||Benign|MGI:1934765|Gpnmb|glycoprotein (transmembrane) nmb [Source:MGI Symbol;Acc:MGI:1934765]|Heterozygous|Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.|A|G|36|39.0|Non-synonymous|Alive, Line Propagating
5182439|IGL01064|5|139252522|R->C|0.89|Possibly damaging|MGI:1914854|Get4|golgi to ER traffic protein 4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914854]|Heterozygous||C|T|34|33.0|Non-synonymous|Alive, Line Propagating
5182440|IGL01064|5|8569553|M->L|0.99|Probably damaging|MGI:2685286|Rundc3b|RUN domain containing 3B [Source:MGI Symbol;Acc:MGI:2685286]|Heterozygous||T|A|33|40.0|Non-synonymous|Alive, Line Propagating
5182441|IGL01064|X|106578736|I->N|1.0|Probably damaging|MGI:1926218|Cysltr1|cysteinyl leukotriene receptor 1 [Source:MGI Symbol;Acc:MGI:1926218]|Heterozygous|Mice homozygous for disruptions in this gen develop normally and both sexes are fertile. However, they display abnormalities in vascular permeability associated with inflammation.|A|T|32|36.0|Non-synonymous|Alive, Line Propagating
5182442|IGL01064|3|89072484|C->G|1.0|Probably damaging|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|G|31|38.0|Non-synonymous|Alive, Line Propagating
5182443|IGL01064|4|98496973|S->P|0.18|Benign|MGI:1277960|Inadl|InaD-like (Drosophila) [Source:MGI Symbol;Acc:MGI:1277960]|Heterozygous||T|C|30|37.0|Non-synonymous|Alive, Line Propagating
5182444|IGL01064|5|36065352|Y->C|1.0|Probably damaging|MGI:1932289|Sorcs2|sortilin-related VPS10 domain containing receptor 2 [Source:MGI Symbol;Acc:MGI:1932289]|Heterozygous||T|C|30|34.0|Non-synonymous|Alive, Line Propagating
5182445|IGL01064|2|49694816|I->V|0.99|Probably damaging|MGI:1098269|Kif5c|kinesin family member 5C [Source:MGI Symbol;Acc:MGI:1098269]|Heterozygous|Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal.|A|G|29|37.0|Non-synonymous|Alive, Line Propagating
5182446|IGL01064|8|109682611|I->V|0.98|Probably damaging|MGI:1919205|Ist1|increased sodium tolerance 1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1919205]|Heterozygous||T|C|27|37.0|Non-synonymous|Alive, Line Propagating
5182447|IGL01064|5|65079984|L->S||Benign|MGI:2685292|Tmem156|transmembrane protein 156 [Source:MGI Symbol;Acc:MGI:2685292]|Heterozygous||A|G|26|39.0|Non-synonymous|Alive, Line Propagating
5182448|IGL01064|17|46573566|L->Stop||N/A|MGI:1918711|Ptk7|PTK7 protein tyrosine kinase 7 [Source:MGI Symbol;Acc:MGI:1918711]|Heterozygous|Mice homozygous for a gene trapped allele die perinatally with defects in neural tube closure and planar cell polarity in the ear. ENU-induced mutant mice show omphalocele, impaired neural tube, heart and lung development, rib defects, polydactyly, failed eyelid closure and altered cell polarity.|A|T|23|37.0|Non-synonymous|Alive, Line Propagating
5182449|IGL01064|4|45314347|Y->C|0.49|Possibly damaging|MGI:1917184|Trmt10b|tRNA methyltransferase 10 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1917184]|Heterozygous||A|G|21|38.0|Non-synonymous|Alive, Line Propagating
5182450|IGL01064|4|49586860|V->M|0.68|Possibly damaging|MGI:1914313|Tmem246|transmembrane protein 246 [Source:MGI Symbol;Acc:MGI:1914313]|Heterozygous||C|T|21|36.0|Non-synonymous|Alive, Line Propagating
5182451|IGL01064|14|43578998|H->Q|0.02|Benign|MGI:4937288|Gm17654|predicted gene, 17654 [Source:MGI Symbol;Acc:MGI:4937288]|Heterozygous||A|T|20|39.0|Non-synonymous|Alive, Line Propagating
5182452|IGL01064|16|57152612|F->S|1.0|Probably damaging|MGI:106295|Tomm70a|translocase of outer mitochondrial membrane 70 homolog A (yeast) [Source:MGI Symbol;Acc:MGI:106295]|Heterozygous||T|C|17|40.0|Non-synonymous|Alive, Line Propagating
5182453|IGL01064|1|20534530|Disrupted splicing|||MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|C|T|13|39.0|Splice|Alive, Line Propagating
5182454|IGL01064|16|91623007|R->C|1.0|Probably damaging|MGI:95654|Gart|phosphoribosylglycinamide formyltransferase [Source:MGI Symbol;Acc:MGI:95654]|Heterozygous||G|A|13|39.0|Non-synonymous|Alive, Line Propagating
5182455|IGL01064|19|6517053|E->D|0.01|Benign|MGI:1096362|Nrxn2|neurexin II [Source:MGI Symbol;Acc:MGI:1096362]|Heterozygous|Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures.|G|T|13|35.0|Non-synonymous|Alive, Line Propagating
5183077|IGL01065|1|191163027|D->G|0.46|Possibly damaging|MGI:3588202|Fam71a|family with sequence similarity 71, member A [Source:MGI Symbol;Acc:MGI:3588202]|Heterozygous||T|C|185|37.0|Non-synonymous|Line Propagating
5183078|IGL01065|2|69469436|E->K|0.42|Benign|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|C|T|125|38.0|Non-synonymous|Line Propagating
5183079|IGL01065|17|32146416|Y->Stop||N/A|MGI:99460|Notch3|notch 3 [Source:MGI Symbol;Acc:MGI:99460]|Heterozygous|Homozygous null mice are viable, fertile, and show no overt phenotype. Adult homozygous null mice for one allele display a small thymus and reduced thymocyte numbers.|A|T|101|35.0|Non-synonymous|Line Propagating
5183080|IGL01065|5|43745334|C->R|1.0|Probably damaging|MGI:2152883|Fbxl5|F-box and leucine-rich repeat protein 5 [Source:MGI Symbol;Acc:MGI:2152883]|Heterozygous||A|G|101|34.0|Non-synonymous|Line Propagating
5183081|IGL01065|4|41423639|Disrupted splicing|||MGI:1918345|Kif24|kinesin family member 24 [Source:MGI Symbol;Acc:MGI:1918345]|Heterozygous||A|G|98|39.0|Splice|Line Propagating
5183082|IGL01065|3|152102657|L->P|0.84|Possibly damaging|MGI:1889209|Gipc2|GIPC PDZ domain containing family, member 2 [Source:MGI Symbol;Acc:MGI:1889209]|Heterozygous||A|G|91|39.0|Non-synonymous|Line Propagating
5183083|IGL01065|17|80216274|G->R|0.76|Possibly damaging|MGI:1914987|Ttc39d|tetratricopeptide repeat domain 39D [Source:MGI Symbol;Acc:MGI:1914987]|Heterozygous||G|A|85|38.0|Non-synonymous|Line Propagating
5183084|IGL01065|12|8003299|Y->C|1.0|Probably damaging|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|A|G|78|34.5|Non-synonymous|Line Propagating
5183085|IGL01065|6|39802513|R->Stop||N/A|MGI:1338046|Mrps33|mitochondrial ribosomal protein S33 [Source:MGI Symbol;Acc:MGI:1338046]|Heterozygous||G|A|73|40.0|Non-synonymous|Line Propagating
5183086|IGL01065|8|69136092|N->S||Benign|MGI:2684762|Lzts1|leucine zipper, putative tumor suppressor 1 [Source:MGI Symbol;Acc:MGI:2684762]|Heterozygous||T|C|72|39.0|Non-synonymous|Line Propagating
5183087|IGL01065|10|127575038|I->T|0.01|Benign|MGI:96828|Lrp1|low density lipoprotein receptor-related protein 1 [Source:MGI Symbol;Acc:MGI:96828]|Heterozygous|Mice homozygous for a null allele exhibit lethality during late organogenesis.|A|G|70|34.5|Non-synonymous|Line Propagating
5183088|IGL01065|4|141905612|T->A||Benign|MGI:1920323|Fhad1|forkhead-associated (FHA) phosphopeptide binding domain 1 [Source:MGI Symbol;Acc:MGI:1920323]|Heterozygous||T|C|64|37.0|Non-synonymous|Line Propagating
5183089|IGL01065|6|72339975|Y->C|1.0|Probably damaging|MGI:107622|Usp39|ubiquitin specific peptidase 39 [Source:MGI Symbol;Acc:MGI:107622]|Heterozygous||T|C|55|34.0|Non-synonymous|Line Propagating
5183090|IGL01065|15|52721060|N->Y||Benign|MGI:1917040|Med30|mediator complex subunit 30 [Source:MGI Symbol;Acc:MGI:1917040]|Heterozygous||A|T|54|35.0|Non-synonymous|Line Propagating
5183091|IGL01065|17|12232990|D->E|1.0|Probably damaging|MGI:1346875|Map3k4|mitogen-activated protein kinase kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1346875]|Heterozygous|Homozygous null mice exhibit some perinatal lethality and survivors appear smaller. On certain genetic backgrounds, heterozygous X/Y mice may develop as phenotypic females or hermaphrodites. The sex-reversal phenotype is dependent on a combination of strain-specific autosomal and Y-linked alleles.|A|T|54|37.0|Non-synonymous|Line Propagating
5183092|IGL01065|11|96300809|T->A|0.88|Possibly damaging|MGI:96187|Hoxb6|homeobox B6 [Source:MGI Symbol;Acc:MGI:96187]|Heterozygous|Homozygotes for a targeted null mutation exhibit an anteriorizing homeotic transformation of the cervicothoracic vertebrae C6-T1, and frequently a missing first rib and a bifid second rib.|A|G|49|35.0|Non-synonymous|Line Propagating
5183093|IGL01065|2|91063706|I->F|0.94|Possibly damaging|MGI:1915677|Slc39a13|solute carrier family 39 (metal ion transporter), member 13 [Source:MGI Symbol;Acc:MGI:1915677]|Heterozygous|Mice homozygous for disruption of this gene display skeletal abnormalities and dental abnormalities.|T|A|47|37.0|Non-synonymous|Line Propagating
5183094|IGL01065|1|87785931|N->I|0.79|Possibly damaging|MGI:1924290|Atg16l1|autophagy related 16-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1924290]|Heterozygous|Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorph alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.|A|T|46|36.5|Non-synonymous|Line Propagating
5183095|IGL01065|1|151777551|Y->H|0.53|Possibly damaging|MGI:1914217|Edem3|ER degradation enhancer, mannosidase alpha-like 3 [Source:MGI Symbol;Acc:MGI:1914217]|Heterozygous||T|C|46|35.0|Non-synonymous|Line Propagating
5183096|IGL01065|2|37377844|Disrupted splicing|||MGI:2442789|Rc3h2|ring finger and CCCH-type zinc finger domains 2 [Source:MGI Symbol;Acc:MGI:2442789]|Heterozygous||T|A|44|37.5|Splice|Line Propagating
5183097|IGL01065|2|37844905|I->F|0.79|Possibly damaging|MGI:2442794|Dennd1a|DENN/MADD domain containing 1A [Source:MGI Symbol;Acc:MGI:2442794]|Heterozygous||T|A|42|39.0|Non-synonymous|Line Propagating
5183098|IGL01065|2|5961300|K->E|0.67|Possibly damaging|MGI:2449307|Upf2|UPF2 regulator of nonsense transcripts homolog (yeast) [Source:MGI Symbol;Acc:MGI:2449307]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality.|A|G|38|38.0|Non-synonymous|Line Propagating
5183099|IGL01065|17|71556325|N->I|0.35|Benign|MGI:1918141|Spdya|speedy homolog A (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:1918141]|Heterozygous||A|T|36|40.0|Non-synonymous|Line Propagating
5183100|IGL01065|6|143078279|S->P|0.86|Possibly damaging|MGI:1921991|5730419i09rik|RIKEN cDNA 5730419I09 gene [Source:MGI Symbol;Acc:MGI:1921991]|Heterozygous||A|G|33|37.0|Non-synonymous|Line Propagating
5183101|IGL01065|7|131967501|Y->H|1.0|Probably damaging|MGI:2441758|Gpr26|G protein-coupled receptor 26 [Source:MGI Symbol;Acc:MGI:2441758]|Heterozygous||T|C|32|35.0|Non-synonymous|Line Propagating
5183102|IGL01065|1|152519142|N->S|1.0|Probably damaging|MGI:107484|Rgl1|ral guanine nucleotide dissociation stimulator,-like 1 [Source:MGI Symbol;Acc:MGI:107484]|Heterozygous||T|C|29|37.0|Non-synonymous|Line Propagating
5183103|IGL01065|3|109158651|Disrupted splicing|||MGI:1917160|Slc25a24|solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 [Source:MGI Symbol;Acc:MGI:1917160]|Heterozygous||G|A|29|39.0|Splice|Line Propagating
5183104|IGL01065|6|40662710|Disrupted splicing|||MGI:1203495|Mgam|maltase-glucoamylase [Source:MGI Symbol;Acc:MGI:1203495]|Heterozygous|Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.|G|A|28|39.0|Splice|Line Propagating
5183105|IGL01065|2|104722081|Y->Stop||N/A|MGI:2139258|Depdc7|DEP domain containing 7 [Source:MGI Symbol;Acc:MGI:2139258]|Heterozygous||A|C|27|36.0|Non-synonymous|Line Propagating
5183106|IGL01065|3|58885025|K->E|1.0|Probably damaging|MGI:2388124|Clrn1|clarin 1 [Source:MGI Symbol;Acc:MGI:2388124]|Heterozygous|Mice homozygous for a null allele exhibit progressive hearing loss and loss of balance associated with defects in outer hair cells and supporting cells.|T|C|27|39.0|Non-synonymous|Line Propagating
5183107|IGL01065|6|145000289|S->G|0.88|Possibly damaging|MGI:104861|Bcat1|branched chain aminotransferase 1, cytosolic [Source:MGI Symbol;Acc:MGI:104861]|Heterozygous||T|C|27|36.0|Non-synonymous|Line Propagating
5183108|IGL01065|1|38099009|E->G|0.09|Benign|MGI:1929074|Rev1|REV1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1929074]|Heterozygous|Mice homozygous for a knock-in allele exhibit abnormal somatic hypermutation frequency of the Ig gene. Mice homozygous for a knock-out allele exhibit background-sensitive prenatal lethality and abnormal somatic hypermutation frequency.|T|C|26|39.0|Non-synonymous|Line Propagating
5183110|IGL01065|3|107303100|I->T|0.21|Benign|MGI:2385183|Slc16a4|solute carrier family 16 (monocarboxylic acid transporters), member 4 [Source:MGI Symbol;Acc:MGI:2385183]|Heterozygous||T|C|21|40.0|Non-synonymous|Line Propagating
5183111|IGL01065|14|101449193|Disrupted splicing|||MGI:2429660|Tbc1d4|TBC1 domain family, member 4 [Source:MGI Symbol;Acc:MGI:2429660]|Heterozygous|Mice homozygous for a knock-in allele show a slightly reduced body size, glucose intolerance, impaired insulin sensitivity, deregulated GLUT4 trafficking, abnormal glucose uptake in muscle and adipose cells, increased testis and heart weight in male mice, and reduced spleen weight in female mice.|A|C|19|39.0|Splice|Line Propagating
5183112|IGL01065|17|35127283|K->Stop||N/A|MGI:90673|D17h6s53e|DNA segment, Chr 17, human D6S53E [Source:MGI Symbol;Acc:MGI:90673]|Heterozygous||A|T|17|34.0|Non-synonymous|Line Propagating
5183113|IGL01065|7|19756799|H->R|0.99|Probably damaging|MGI:1929940|Bcam|basal cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1929940]|Heterozygous|A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a null allele exhibit glomeruli abnormalities and increased thickness and disorganization of intestinal smooth muscle.|T|C|17|30.0|Non-synonymous|Line Propagating
5183115|IGL01065|4|148261183|Y->C|1.0|Probably damaging|MGI:2444403|Ptchd2|patched domain containing 2 [Source:MGI Symbol;Acc:MGI:2444403]|Heterozygous||T|C|15|35.0|Non-synonymous|Line Propagating
5183116|IGL01065|11|69945956|Disrupted splicing|||MGI:95758|Slc2a4|solute carrier family 2 (facilitated glucose transporter), member 4 [Source:MGI Symbol;Acc:MGI:95758]|Heterozygous||G|T|14|38.0|Splice|Line Propagating
5183117|IGL01065|17|56615500|Disrupted splicing|||MGI:1921392|Lonp1|lon peptidase 1, mitochondrial [Source:MGI Symbol;Acc:MGI:1921392]|Heterozygous||T|C|13|33.0|Splice|Line Propagating
5183118|IGL01065|6|125282957|V->M|0.19|Benign|MGI:1095406|Tuba3a|tubulin, alpha 3A [Source:MGI Symbol;Acc:MGI:1095406]|Heterozygous||C|T|13|40.0|Non-synonymous|Line Propagating
5183119|IGL01065|9|35213438|W->R|1.0|Probably damaging|MGI:1914648|Srpr|signal recognition particle receptor ('docking protein') [Source:MGI Symbol;Acc:MGI:1914648]|Heterozygous||T|A|12|32.0|Non-synonymous|Line Propagating
5183738|IGL01066|11|49293630|I->T|||MGI:3031226|Olfr1392|olfactory receptor 1392 [Source:MGI Symbol;Acc:MGI:3031226]|Heterozygous||T|C|235|37.0|Non-synonymous|Line Propagating
5183739|IGL01066|7|118773011|Disrupted splicing|||MGI:1918767|9030624j02rik|RIKEN cDNA 9030624J02 gene [Source:MGI Symbol;Acc:MGI:1918767]|Heterozygous||T|A|138|35.0|Splice|Line Propagating
5183740|IGL01066|19|24267298|Disrupted splicing|||MGI:1096879|Fxn|frataxin [Source:MGI Symbol;Acc:MGI:1096879]|Heterozygous|Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively.|A|T|128|37.5|Splice|Line Propagating
5183741|IGL01066|7|108621857|F->S|1.0|Probably damaging|MGI:3030341|Olfr507|olfactory receptor 507 [Source:MGI Symbol;Acc:MGI:3030341]|Heterozygous||T|C|128|37.0|Non-synonymous|Line Propagating
5183742|IGL01066|11|102308884|Disrupted splicing|||MGI:98512|Ubtf|upstream binding transcription factor, RNA polymerase I [Source:MGI Symbol;Acc:MGI:98512]|Heterozygous||T|C|117|35.0|Splice|Line Propagating
5183743|IGL01066|2|129119152|S->L|1.0|Probably damaging|MGI:108014|Polr1b|polymerase (RNA) I polypeptide B [Source:MGI Symbol;Acc:MGI:108014]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation.|C|T|93|38.0|Non-synonymous|Line Propagating
5183744|IGL01066|9|124349526|H->Q|||MGI:3700744|Nlrp4g|NLR family, pyrin domain containing 4G [Source:MGI Symbol;Acc:MGI:3700744]|Heterozygous||C|A|90|39.0|Non-synonymous|Line Propagating
5183745|IGL01066|3|127680225|S->T|0.16|Benign|MGI:1918731|Alpk1|alpha-kinase 1 [Source:MGI Symbol;Acc:MGI:1918731]|Heterozygous||A|T|84|37.0|Non-synonymous|Line Propagating
5183746|IGL01066|14|52217766|N->I|1.0|Probably damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|T|A|71|37.0|Non-synonymous|Line Propagating
5183747|IGL01066|2|86047258|R->G|1.0|Probably damaging|MGI:3030868|Olfr1034|olfactory receptor 1034 [Source:MGI Symbol;Acc:MGI:3030868]|Heterozygous||A|G|69|39.0|Non-synonymous|Line Propagating
5183749|IGL01066|3|102920634|S->P|1.0|Probably damaging|MGI:105931|Sycp1|synaptonemal complex protein 1 [Source:MGI Symbol;Acc:MGI:105931]|Heterozygous|Homozygous null mice display male and female infertility, azoospermia, small ovary, small testis and seminiferous tubules, absent ovarian follicles, and failure of synapse formation during meiosis.|A|G|52|37.0|Non-synonymous|Line Propagating
5183750|IGL01066|7|35692767|Disrupted splicing|||MGI:2443952|Dpy19l3|dpy-19-like 3 (C. elegans) [Source:MGI Symbol;Acc:MGI:2443952]|Heterozygous||A|G|52|35.0|Splice|Line Propagating
5183751|IGL01066|9|21016105|Disrupted splicing|||MGI:96392|Icam1|intercellular adhesion molecule 1 [Source:MGI Symbol;Acc:MGI:96392]|Heterozygous|Homozygous mutation of this gene results in impaired inflammatory and immune responses.|A|G|50|35.0|Splice|Line Propagating
5183752|IGL01066|3|59327782|Disrupted splicing|||MGI:1923481|Igsf10|immunoglobulin superfamily, member 10 [Source:MGI Symbol;Acc:MGI:1923481]|Heterozygous||A|G|47|38.0|Splice|Line Propagating
5183753|IGL01066|16|17348773|Disrupted splicing|||MGI:2448506|Pi4ka|phosphatidylinositol 4-kinase, catalytic, alpha polypeptide [Source:MGI Symbol;Acc:MGI:2448506]|Heterozygous||A|G|45|38.0|Splice|Line Propagating
5183754|IGL01066|10|14149024|V->A|0.37|Benign|MGI:1338076|Hivep2|human immunodeficiency virus type I enhancer binding protein 2 [Source:MGI Symbol;Acc:MGI:1338076]|Heterozygous|Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation.|T|C|44|35.5|Non-synonymous|Line Propagating
5183755|IGL01066|2|110661445|M->K|0.01|Benign|MGI:3613666|Ano3|anoctamin 3 [Source:MGI Symbol;Acc:MGI:3613666]|Heterozygous||A|T|44|39.0|Non-synonymous|Line Propagating
5183756|IGL01066|17|33913893|V->D||Unknown|MGI:1197015|Daxx|Fas death domain-associated protein [Source:MGI Symbol;Acc:MGI:1197015]|Heterozygous|Mice homozygous for a targeted mutation of this gene display extensive apoptosis and embryonic lethality.|T|A|43|30.0|Non-synonymous|Line Propagating
5183757|IGL01066|7|19696600|L->P|1.0|Probably damaging|MGI:88057|Apoe|apolipoprotein E [Source:MGI Symbol;Acc:MGI:88057]|Heterozygous|Mutations at this locus cause diet-induced hypercholesterolemia and atherosclerosis. Homozygous null mutants also develop foam-cell rich deposits in proximal aorta, impaired blood-nerve and blood-brain barriers, and many xanthomatous lesions.|A|G|43|39.0|Non-synonymous|Line Propagating
5183758|IGL01066|15|101438385|Disrupted splicing|||MGI:3665486|Krt83|keratin 83 [Source:MGI Symbol;Acc:MGI:3665486]|Heterozygous||A|G|42|34.5|Splice|Line Propagating
5183759|IGL01066|2|160754398|H->L|1.0|Probably damaging|MGI:97615|Plcg1|phospholipase C, gamma 1 [Source:MGI Symbol;Acc:MGI:97615]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with arrested growth and/or abnormal hematopoiesis.|A|T|40|37.5|Non-synonymous|Line Propagating
5183760|IGL01066|6|17535105|Disrupted splicing|||MGI:96969|Met|met proto-oncogene [Source:MGI Symbol;Acc:MGI:96969]|Heterozygous|Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental and liver defects.|T|C|39|38.0|Splice|Line Propagating
5183761|IGL01066|10|80634647|Disrupted splicing|||MGI:1920014|Csnk1g2|casein kinase 1, gamma 2 [Source:MGI Symbol;Acc:MGI:1920014]|Heterozygous||T|C|38|35.0|Splice|Line Propagating
5183762|IGL01066|5|110668199|Disrupted splicing|||MGI:1276124|Ep400|E1A binding protein p400 [Source:MGI Symbol;Acc:MGI:1276124]|Heterozygous|Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube.|A|G|37|38.0|Splice|Line Propagating
5183763|IGL01066|1|71353730|R->W|0.89|Possibly damaging|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|A|36|37.0|Non-synonymous|Line Propagating
5183764|IGL01066|6|145176222|G->S|0.61|Possibly damaging|MGI:2444480|Casc1|cancer susceptibility candidate 1 [Source:MGI Symbol;Acc:MGI:2444480]|Heterozygous|Mice with disruptions of this gene display a higher incidence of lung tumors.|C|T|36|37.5|Non-synonymous|Line Propagating
5183765|IGL01066|3|88984635|Y->H|1.0|Probably damaging|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
5183766|IGL01066|5|52857209|N->K|0.11|Benign|MGI:1098673|Anapc4|anaphase promoting complex subunit 4 [Source:MGI Symbol;Acc:MGI:1098673]|Heterozygous||T|A|35|40.0|Non-synonymous|Line Propagating
5183767|IGL01066|2|76672908|L->Stop||N/A|MGI:1336879|Fkbp7|FK506 binding protein 7 [Source:MGI Symbol;Acc:MGI:1336879]|Heterozygous||A|T|34|37.0|Non-synonymous|Line Propagating
5183768|IGL01066|7|140921796|V->D|0.16|Benign|MGI:2141990|Nlrp6|NLR family, pyrin domain containing 6 [Source:MGI Symbol;Acc:MGI:2141990]|Heterozygous|Mice homozygous for a targeted allele exhibit increased susceptibility to DSS-induced colitis, decreased circulating and colonic IL18 levels, colonic crypt hyperplasia, enlarged Peyer's patches, increased IgG2c and IgA serum levels, increased leukocytes, and expanded gut bacterial phylotypes.|T|A|34|35.0|Non-synonymous|Line Propagating
5183769|IGL01066|1|164345430|Disrupted splicing|||MGI:2449121|Nme7|NME/NM23 family member 7 [Source:MGI Symbol;Acc:MGI:2449121]|Heterozygous||A|G|31|38.0|Splice|Line Propagating
5183770|IGL01066|13|97245314|I->V||Benign|MGI:109610|Enc1|ectodermal-neural cortex 1 [Source:MGI Symbol;Acc:MGI:109610]|Heterozygous||A|G|31|39.0|Non-synonymous|Line Propagating
5183771|IGL01066|15|85816159|I->L|||MGI:1338786|Pkdrej|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin) [Source:MGI Symbol;Acc:MGI:1338786]|Heterozygous|Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm.|T|G|31|37.0|Non-synonymous|Line Propagating
5183772|IGL01066|5|92234237|L->P|1.0|Probably damaging|MGI:1342304|Ppef2|protein phosphatase, EF hand calcium-binding domain 2 [Source:MGI Symbol;Acc:MGI:1342304]|Heterozygous|Homozygotes for a targeted null mutation appear to be phenotypically normal.|A|G|31|35.0|Non-synonymous|Line Propagating
5183773|IGL01066|5|21319542|T->A|0.06|Benign|MGI:1922422|Ccdc146|coiled-coil domain containing 146 [Source:MGI Symbol;Acc:MGI:1922422]|Heterozygous||T|C|30|38.0|Non-synonymous|Line Propagating
5183774|IGL01066|8|26048298|E->A|0.98|Probably damaging|MGI:2443554|Hook3|hook homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2443554]|Heterozygous||T|G|29|38.0|Non-synonymous|Line Propagating
5183775|IGL01066|10|19609198|T->I|0.02|Benign|MGI:107655|Ifngr1|interferon gamma receptor 1 [Source:MGI Symbol;Acc:MGI:107655]|Heterozygous|Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis.|C|T|28|37.0|Non-synonymous|Line Propagating
5183776|IGL01066|14|70701755|T->A|0.02|Benign|MGI:1929705|Xpo7|exportin 7 [Source:MGI Symbol;Acc:MGI:1929705]|Heterozygous||T|C|28|38.0|Non-synonymous|Line Propagating
5183777|IGL01066|15|12402632|Disrupted splicing|||MGI:1922394|Pdzd2|PDZ domain containing 2 [Source:MGI Symbol;Acc:MGI:1922394]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.|T|A|27|37.0|Splice|Line Propagating
5183778|IGL01066|17|24901718|G->D|0.01|Benign|MGI:1353598|Mapk8ip3|mitogen-activated protein kinase 8 interacting protein 3 [Source:MGI Symbol;Acc:MGI:1353598]|Heterozygous|Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure.|C|T|27|36.0|Non-synonymous|Line Propagating
5183779|IGL01066|2|76752426|T->A||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|27|39.0|Non-synonymous|Line Propagating
5183780|IGL01066|17|67743326|C->S|||MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|T|A|25|35.0|Non-synonymous|Line Propagating
5183781|IGL01066|8|61329336|W->R|1.0|Probably damaging|MGI:1913066|Sh3rf1|SH3 domain containing ring finger 1 [Source:MGI Symbol;Acc:MGI:1913066]|Heterozygous||T|A|25|36.0|Non-synonymous|Line Propagating
5183782|IGL01066|6|145160955|S->P|||MGI:108424|Lrmp|lymphoid-restricted membrane protein [Source:MGI Symbol;Acc:MGI:108424]|Heterozygous||T|C|24|32.0|Non-synonymous|Line Propagating
5183783|IGL01066|10|41285417|Disrupted splicing|||MGI:2143585|Fig4|FIG4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143585]|Heterozygous|Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.|T|C|23|37.0|Splice|Line Propagating
5183784|IGL01066|7|24353485|T->I|0.01|Benign|MGI:1924192|Lypd5|Ly6/Plaur domain containing 5 [Source:MGI Symbol;Acc:MGI:1924192]|Heterozygous||C|T|22|33.5|Non-synonymous|Line Propagating
5183785|IGL01066|1|70728911|F->L|0.96|Probably damaging|MGI:2444069|Vwc2l|von Willebrand factor C domain-containing protein 2-like [Source:MGI Symbol;Acc:MGI:2444069]|Heterozygous||T|C|21|39.0|Non-synonymous|Line Propagating
5183786|IGL01066|16|91660136|S->P||Unknown|MGI:98353|Son|Son DNA binding protein [Source:MGI Symbol;Acc:MGI:98353]|Heterozygous||T|C|21|37.0|Non-synonymous|Line Propagating
5183787|IGL01066|12|81992021|R->Q|0.84|Possibly damaging|MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||G|A|19|37.0|Non-synonymous|Line Propagating
5183788|IGL01066|15|78442434|D->G|1.0|Probably damaging|MGI:1919003|Tmprss6|transmembrane serine protease 6 [Source:MGI Symbol;Acc:MGI:1919003]|Heterozygous|Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation.|T|C|19|33.0|Non-synonymous|Line Propagating
5183789|IGL01066|5|149709425|T->I|0.94|Possibly damaging|MGI:2685903|B3galtl|beta 1,3-galactosyltransferase-like [Source:MGI Symbol;Acc:MGI:2685903]|Heterozygous||C|T|18|32.5|Non-synonymous|Line Propagating
5183790|IGL01066|7|144763256|P->L||Unknown|MGI:3641809|Gm10152|predicted gene 10152 [Source:MGI Symbol;Acc:MGI:3641809]|Heterozygous||C|T|18|38.0|Non-synonymous|Line Propagating
5183791|IGL01066|11|99837628|R->Stop||N/A|MGI:1916701|2300003k06rik|RIKEN cDNA 2300003K06 gene [Source:MGI Symbol;Acc:MGI:1916701]|Heterozygous||T|A|17|35.0|Non-synonymous|Line Propagating
5183793|IGL01066|19|10594528|I->M|0.18|Benign|MGI:2385084|Dak|dihydroxyacetone kinase 2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2385084]|Heterozygous||T|C|17|38.0|Non-synonymous|Line Propagating
5183794|IGL01066|11|82797315|M->K|0.2|Benign|MGI:109152|Lig3|ligase III, DNA, ATP-dependent [Source:MGI Symbol;Acc:MGI:109152]|Heterozygous|Targeted inactivation of this gene causes embryonic growth arrest at 8.5 dpc, followed by excessive apoptosis at 9.5 dpc, and ultimately death, likely due to unrepaired DNA damage. Homozygous mutant cells display elevated sister chromatid exchange.|T|A|13|38.0|Non-synonymous|Line Propagating
5183795|IGL01066|12|113163150|E->G|0.31|Benign|MGI:2144738|4930427a07rik|RIKEN cDNA 4930427A07 gene [Source:MGI Symbol;Acc:MGI:2144738]|Heterozygous||A|G|11|30.0|Non-synonymous|Line Propagating
5183796|IGL01066|4|156177343|S->P|1.0|Probably damaging|MGI:87961|Agrn|agrin [Source:MGI Symbol;Acc:MGI:87961]|Heterozygous||A|G|11|33.0|Non-synonymous|Line Propagating
5184409|IGL01067|2|178023382|Disrupted splicing|||MGI:1261426|Etohi1|ethanol induced 1 [Source:MGI Symbol;Acc:MGI:1261426]|Heterozygous||G|A|160|37.0|Splice|Alive, Line Propagating
5184410|IGL01067|2|111538014|I->F|1.0|Probably damaging|MGI:3031128|Olfr1294|olfactory receptor 1294 [Source:MGI Symbol;Acc:MGI:3031128]|Heterozygous||T|A|106|38.0|Non-synonymous|Alive, Line Propagating
5184411|IGL01067|7|12989072|E->G|0.97|Probably damaging|MGI:1347100|Slc27a5|solute carrier family 27 (fatty acid transporter), member 5 [Source:MGI Symbol;Acc:MGI:1347100]|Heterozygous|Mice homozygous for a null allele exhibit altered lipid homeostasis.|T|C|98|35.0|Non-synonymous|Alive, Line Propagating
5184412|IGL01067|4|99741570|V->A|0.98|Probably damaging|MGI:2444031|Alg6|asparagine-linked glycosylation 6 (alpha-1,3,-glucosyltransferase) [Source:MGI Symbol;Acc:MGI:2444031]|Heterozygous||T|C|89|37.0|Non-synonymous|Alive, Line Propagating
5184413|IGL01067|1|170968053|N->K|0.06|Benign|MGI:95499|Fcgr2b|Fc receptor, IgG, low affinity IIb [Source:MGI Symbol;Acc:MGI:95499]|Heterozygous|Mutants show increased antibody response, passive cutaneous analphylaxis, autoantibodies and arthritis susceptibility. On C57BL/6, mice die by 9 months with anemia, proteinuria, glomerulonephritis, and inflammatory disease. A strain variant controls expression in germinal center B cells.|A|T|78|37.5|Non-synonymous|Alive, Line Propagating
5184414|IGL01067|2|114647809|M->K|1.0|Probably damaging|MGI:1913882|Atpbd4|ATP binding domain 4 [Source:MGI Symbol;Acc:MGI:1913882]|Heterozygous||A|T|71|39.0|Non-synonymous|Alive, Line Propagating
5184415|IGL01067|3|142566597|Disrupted splicing|||MGI:1926263|Gbp3|guanylate binding protein 3 [Source:MGI Symbol;Acc:MGI:1926263]|Heterozygous||T|C|70|37.0|Splice|Alive, Line Propagating
5184416|IGL01067|5|123630804|K->N|1.0|Probably damaging|MGI:1928401|Clip1|CAP-GLY domain containing linker protein 1 [Source:MGI Symbol;Acc:MGI:1928401]|Heterozygous|Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia.|C|A|68|37.0|Non-synonymous|Alive, Line Propagating
5184417|IGL01067|7|122168925|R->H|0.03|Benign|MGI:97621|Plk1|polo-like kinase 1 [Source:MGI Symbol;Acc:MGI:97621]|Heterozygous|Mice homozygous for a null mutation display lethality before implantation, embryonic growth arrest, and impaired mitosis. Mice heterozygous for a null mutation display increased tumor incidence and increased incidence of aneuploidy.|G|A|60|38.0|Non-synonymous|Alive, Line Propagating
5184418|IGL01067|2|87418370|I->M||Benign|MGI:3030957|Olfr1123|olfactory receptor 1123 [Source:MGI Symbol;Acc:MGI:3030957]|Heterozygous||A|G|59|37.0|Non-synonymous|Alive, Line Propagating
5184419|IGL01067|3|123546817|Q->R|0.92|Possibly damaging|MGI:1932544|Ndst3|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 [Source:MGI Symbol;Acc:MGI:1932544]|Heterozygous|Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation.|T|C|58|39.0|Non-synonymous|Alive, Line Propagating
5184420|IGL01067|16|13685241|C->R|1.0|Probably damaging|MGI:1914368|Bfar|bifunctional apoptosis regulator [Source:MGI Symbol;Acc:MGI:1914368]|Heterozygous||T|C|57|38.0|Non-synonymous|Alive, Line Propagating
5184421|IGL01067|17|17970566|V->D|0.32|Benign|MGI:1194495|Fpr3|formyl peptide receptor 3 [Source:MGI Symbol;Acc:MGI:1194495]|Heterozygous||T|A|55|38.0|Non-synonymous|Alive, Line Propagating
5184422|IGL01067|6|23247843|V->I|0.31|Benign|MGI:1920441|Fezf1|Fez family zinc finger 1 [Source:MGI Symbol;Acc:MGI:1920441]|Heterozygous|Mice homozygous for a null mutation of this gene display neonatal lethality, impaired olfactory bulb development and impaired olfactory bulb interneuron migration.|C|T|55|36.0|Non-synonymous|Alive, Line Propagating
5184423|IGL01067|8|109961964|D->E|||MGI:1920858|Marveld3|MARVEL (membrane-associating) domain containing 3 [Source:MGI Symbol;Acc:MGI:1920858]|Heterozygous||G|T|55|33.0|Non-synonymous|Alive, Line Propagating
5184424|IGL01067|7|44253452|V->I|||MGI:3644563|Acpt|acid phosphatase, testicular [Source:MGI Symbol;Acc:MGI:3644563]|Heterozygous||C|T|53|37.0|Non-synonymous|Alive, Line Propagating
5184425|IGL01067|6|90406114|E->V|1.0|Probably damaging|MGI:2141635|Ccdc37|coiled-coil domain containing 37 [Source:MGI Symbol;Acc:MGI:2141635]|Heterozygous||T|A|52|37.0|Non-synonymous|Alive, Line Propagating
5184426|IGL01067|11|114960427|Disrupted splicing|||MGI:3032626|Cd300c|CD300C antigen [Source:MGI Symbol;Acc:MGI:3032626]|Heterozygous||T|C|51|38.0|Splice|Alive, Line Propagating
5184427|IGL01067|17|6037926|N->K|||MGI:1201671|Synj2|synaptojanin 2 [Source:MGI Symbol;Acc:MGI:1201671]|Heterozygous||T|A|48|38.0|Non-synonymous|Alive, Line Propagating
5184428|IGL01067|2|76745162|I->N||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|T|47|39.0|Non-synonymous|Alive, Line Propagating
5184429|IGL01067|9|107082373|Disrupted splicing|||MGI:2429763|Dock3|dedicator of cyto-kinesis 3 [Source:MGI Symbol;Acc:MGI:2429763]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy.|A|T|46|38.0|Splice|Alive, Line Propagating
5184430|IGL01067|4|123929968|F->L|0.02|Benign|MGI:1858751|Rragc|Ras-related GTP binding C [Source:MGI Symbol;Acc:MGI:1858751]|Heterozygous||T|C|44|37.0|Non-synonymous|Alive, Line Propagating
5184431|IGL01067|2|26228396|N->S|1.0|Probably damaging|MGI:2387194|Qsox2|quiescin Q6 sulfhydryl oxidase 2 [Source:MGI Symbol;Acc:MGI:2387194]|Heterozygous||T|C|42|38.0|Non-synonymous|Alive, Line Propagating
5184432|IGL01067|1|153436024|S->R|0.93|Possibly damaging|MGI:1919086|Shcbp1l|Shc SH2-domain binding protein 1-like [Source:MGI Symbol;Acc:MGI:1919086]|Heterozygous||A|C|40|35.0|Non-synonymous|Alive, Line Propagating
5184433|IGL01067|1|174503319|D->V||Unknown|MGI:1859252|Fmn2|formin 2 [Source:MGI Symbol;Acc:MGI:1859252]|Heterozygous|Female mice homozygous for a knock-out allele display polyploid embryo formation, recurrent pregnancy loss, hypofertility, and inadequate nursing behavior.|A|T|40|30.0|Non-synonymous|Alive, Line Propagating
5184434|IGL01067|8|99421954|Disrupted splicing|||MGI:2443215|A330008l17rik|RIKEN cDNA A330008L17 gene [Source:MGI Symbol;Acc:MGI:2443215]|Heterozygous||T|C|40|37.0|Splice|Alive, Line Propagating
5184435|IGL01067|1|63737771|Disrupted splicing|||MGI:1922869|Fastkd2|FAST kinase domains 2 [Source:MGI Symbol;Acc:MGI:1922869]|Heterozygous||T|G|37|40.0|Splice|Alive, Line Propagating
5184436|IGL01067|14|57100172|V->A|0.94|Possibly damaging|MGI:95720|Gjb2|gap junction protein, beta 2 [Source:MGI Symbol;Acc:MGI:95720]|Heterozygous|Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells.|A|G|37|37.0|Non-synonymous|Alive, Line Propagating
5184437|IGL01067|9|44944865|Y->F|0.01|Benign|MGI:2154580|Ube4a|ubiquitination factor E4A, UFD2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2154580]|Heterozygous||T|A|37|37.0|Non-synonymous|Alive, Line Propagating
5184438|IGL01067|10|69850196|K->E|||MGI:88026|Ank3|ankyrin 3, epithelial [Source:MGI Symbol;Acc:MGI:88026]|Heterozygous|Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, uncoordination, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months.|A|G|36|35.0|Non-synonymous|Alive, Line Propagating
5184439|IGL01067|5|21979666|L->S|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|A|G|36|39.0|Non-synonymous|Alive, Line Propagating
5184440|IGL01067|11|69748014|I->F|0.95|Possibly damaging|MGI:98086|Polr2a|polymerase (RNA) II (DNA directed) polypeptide A [Source:MGI Symbol;Acc:MGI:98086]|Heterozygous||T|A|34|35.0|Non-synonymous|Alive, Line Propagating
5184441|IGL01067|17|88985393|C->Y|0.98|Probably damaging|MGI:95583|Fshr|follicle stimulating hormone receptor [Source:MGI Symbol;Acc:MGI:95583]|Heterozygous|Homozygous null mutant females are sterile with small ovaries, blocked follicular development, atrophic uterus and imperforate vagina. Mutant males are fertile despite reduction in testis weight, oligozoospermia and reduced testosterone levels.|C|T|34|38.5|Non-synonymous|Alive, Line Propagating
5184442|IGL01067|2|21189231|Q->R|0.01|Benign|MGI:1918483|Enkur|enkurin, TRPC channel interacting protein [Source:MGI Symbol;Acc:MGI:1918483]|Heterozygous||T|C|34|38.0|Non-synonymous|Alive, Line Propagating
5184443|IGL01067|2|180176543|Disrupted splicing|||MGI:105382|Lama5|laminin, alpha 5 [Source:MGI Symbol;Acc:MGI:105382]|Heterozygous|Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.|A|G|33|36.0|Splice|Alive, Line Propagating
5184444|IGL01067|7|125575161|T->A|0.01|Benign|MGI:105367|Il4ra|interleukin 4 receptor, alpha [Source:MGI Symbol;Acc:MGI:105367]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and altered susceptibility to infection.|A|G|33|37.0|Non-synonymous|Alive, Line Propagating
5184445|IGL01067|10|81273865|V->L|0.04|Benign|MGI:1351650|Tjp3|tight junction protein 3 [Source:MGI Symbol;Acc:MGI:1351650]|Heterozygous|Homozygous mutation of this gene results in viable and fertile mice with no abnormalities.|C|A|32|37.0|Non-synonymous|Alive, Line Propagating
5184446|IGL01067|11|62392528|H->Q|0.99|Probably damaging|MGI:1349717|Ncor1|nuclear receptor co-repressor 1 [Source:MGI Symbol;Acc:MGI:1349717]|Heterozygous|Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities.|A|T|32|40.0|Non-synonymous|Alive, Line Propagating
5184447|IGL01067|8|83234162|T->A|1.0|Probably damaging|MGI:1918560|Tbc1d9|TBC1 domain family, member 9 [Source:MGI Symbol;Acc:MGI:1918560]|Heterozygous||A|G|31|35.0|Non-synonymous|Alive, Line Propagating
5184448|IGL01067|11|120372132|H->R|1.0|Probably damaging|MGI:1919135|2310003h01rik|RIKEN cDNA 2310003H01 gene [Source:MGI Symbol;Acc:MGI:1919135]|Heterozygous||T|C|30|38.0|Non-synonymous|Alive, Line Propagating
5184449|IGL01067|3|95898816|I->T|0.99|Probably damaging|MGI:1344341|Car14|carbonic anhydrase 14 [Source:MGI Symbol;Acc:MGI:1344341]|Heterozygous|Mice homozygous for a knock-out allele are viable and display normal growth, health and fertility.|A|G|29|38.0|Non-synonymous|Alive, Line Propagating
5184450|IGL01067|11|101893773|I->N|0.01|Benign|MGI:103220|Meox1|mesenchyme homeobox 1 [Source:MGI Symbol;Acc:MGI:103220]|Heterozygous|Homozygotes for a targeted null mutation exhibit hemi-vertebrae, and rib, vertebral, and cranial-vertebral fusions, but are viable and fertile.|A|T|28|35.0|Non-synonymous|Alive, Line Propagating
5184451|IGL01067|7|16786879|C->Stop||N/A|MGI:105305|Slc1a5|solute carrier family 1 (neutral amino acid transporter), member 5 [Source:MGI Symbol;Acc:MGI:105305]|Heterozygous||T|A|28|37.5|Non-synonymous|Alive, Line Propagating
5184452|IGL01067|3|54222562|Q->K|0.12|Benign|MGI:109525|Trpc4|transient receptor potential cation channel, subfamily C, member 4 [Source:MGI Symbol;Acc:MGI:109525]|Heterozygous|Homozygous null mice exhibit a significant reduction in agonist-induced Ca2+ entry and vasorelaxation of aortic rings.|C|A|21|37.0|Non-synonymous|Alive, Line Propagating
5184453|IGL01067|3|116613956|E->D|0.58|Possibly damaging|MGI:1920026|Sass6|spindle assembly 6 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1920026]|Heterozygous||A|T|21|39.0|Non-synonymous|Alive, Line Propagating
5184455|IGL01067|1|176274879|Disrupted splicing|||MGI:2442056|Pld5|phospholipase D family, member 5 [Source:MGI Symbol;Acc:MGI:2442056]|Heterozygous||A|T|17|34.0|Splice|Alive, Line Propagating
5184457|IGL01067|8|26007201|Q->Stop||N/A|MGI:104683|Fnta|farnesyltransferase, CAAX box, alpha [Source:MGI Symbol;Acc:MGI:104683]|Heterozygous||G|A|17|36.0|Non-synonymous|Alive, Line Propagating
5184458|IGL01067|5|32899067|Disrupted splicing|||MGI:2141101|Depdc5|DEP domain containing 5 [Source:MGI Symbol;Acc:MGI:2141101]|Heterozygous||A|G|16|38.0|Splice|Alive, Line Propagating
5184459|IGL01067|4|76059685|I->F|1.0|Probably damaging|MGI:97812|Ptprd|protein tyrosine phosphatase, receptor type, D [Source:MGI Symbol;Acc:MGI:97812]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake.|T|A|10|40.0|Non-synonymous|Alive, Line Propagating
5185076|IGL01068|2|36850270|S->A|0.99|Probably damaging|MGI:3030184|Olfr350|olfactory receptor 350 [Source:MGI Symbol;Acc:MGI:3030184]|Heterozygous||T|G|310|38.0|Non-synonymous|Line Propagating
5185077|IGL01068|5|122106704|V->I||Benign|MGI:97272|Myl2|myosin, light polypeptide 2, regulatory, cardiac, slow [Source:MGI Symbol;Acc:MGI:97272]|Heterozygous||G|A|138|38.0|Non-synonymous|Line Propagating
5185078|IGL01068|2|166052795|S->P|1.0|Probably damaging|MGI:1276535|Ncoa3|nuclear receptor coactivator 3 [Source:MGI Symbol;Acc:MGI:1276535]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for a targeted allele affecting phosphorylation sites exhibit increased body weight, increased adiposity, hypoactivity, abnormal glucose homeostasis, and increased susceptibility to chemically induced tumors.|T|C|135|37.0|Non-synonymous|Line Propagating
5185079|IGL01068|7|139845625|E->G|0.99|Probably damaging|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||A|G|134|37.0|Non-synonymous|Line Propagating
5185080|IGL01068|6|83934994|R->W|1.0|Probably damaging|MGI:1203484|Zfml|zinc finger, matrin-like [Source:MGI Symbol;Acc:MGI:1203484]|Heterozygous||C|T|91|39.0|Non-synonymous|Line Propagating
5185081|IGL01068|9|95726494|D->G|1.0|Probably damaging|MGI:109528|Trpc1|transient receptor potential cation channel, subfamily C, member 1 [Source:MGI Symbol;Acc:MGI:109528]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased body weight and a severe loss of salivary gland fluid secretion due to attenuation of store-operated Ca2+ currents. Surprisingly, no abnormalities are seen in store-operated or mechanosensitive cation channels in vascular smooth muscle cells.|T|C|90|38.5|Non-synonymous|Line Propagating
5185082|IGL01068|17|78865371|I->T|1.0|Probably damaging|MGI:1353449|Eif2ak2|eukaryotic translation initiation factor 2-alpha kinase 2 [Source:MGI Symbol;Acc:MGI:1353449]|Heterozygous|Mice homozygous for disruptions in this gene display altered susceptibility to viral infection.|A|G|82|38.0|Non-synonymous|Line Propagating
5185083|IGL01068|6|30502086|L->R|0.05|Benign|MGI:1919899|Tmem209|transmembrane protein 209 [Source:MGI Symbol;Acc:MGI:1919899]|Heterozygous||A|C|79|39.0|Non-synonymous|Line Propagating
5185084|IGL01068|7|44140678|L->P|1.0|Probably damaging|MGI:891982|Klk1b16|kallikrein 1-related peptidase b16 [Source:MGI Symbol;Acc:MGI:891982]|Heterozygous||T|C|77|38.0|Non-synonymous|Line Propagating
5185085|IGL01068|15|25739309|I->N|||MGI:107716|Myo10|myosin X [Source:MGI Symbol;Acc:MGI:107716]|Heterozygous||T|A|76|38.0|Non-synonymous|Line Propagating
5185086|IGL01068|4|34806763|F->L|0.99|Probably damaging|MGI:1353423|Zfp292|zinc finger protein 292 [Source:MGI Symbol;Acc:MGI:1353423]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
5185087|IGL01068|6|128370967|R->H|0.98|Probably damaging|MGI:1347487|Foxm1|forkhead box M1 [Source:MGI Symbol;Acc:MGI:1347487]|Heterozygous||G|A|69|37.0|Non-synonymous|Line Propagating
5185088|IGL01068|9|111035812|D->V|0.79|Possibly damaging|MGI:96837|Ltf|lactotransferrin [Source:MGI Symbol;Acc:MGI:96837]|Heterozygous||A|T|66|37.0|Non-synonymous|Line Propagating
5185089|IGL01068|2|111621340|T->P|0.93|Possibly damaging|MGI:3031131|Olfr1297|olfactory receptor 1297 [Source:MGI Symbol;Acc:MGI:3031131]|Heterozygous||T|G|64|39.0|Non-synonymous|Line Propagating
5185090|IGL01068|4|122844007|C->Y|0.54|Possibly damaging|MGI:1298204|Ppt1|palmitoyl-protein thioesterase 1 [Source:MGI Symbol;Acc:MGI:1298204]|Heterozygous|Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.|G|A|64|39.5|Non-synonymous|Line Propagating
5185091|IGL01068|6|124462139|L->S|1.0|Probably damaging|MGI:2178323|Clstn3|calsyntenin 3 [Source:MGI Symbol;Acc:MGI:2178323]|Heterozygous||A|G|56|37.5|Non-synonymous|Line Propagating
5185092|IGL01068|8|110222869|V->M|0.65|Possibly damaging|MGI:2384580|Ftsjd1|FtsJ methyltransferase domain containing 1 [Source:MGI Symbol;Acc:MGI:2384580]|Heterozygous||G|A|56|37.0|Non-synonymous|Line Propagating
5185093|IGL01068|5|64107796|V->I|1.0|Probably damaging|MGI:97564|Pgm1|phosphoglucomutase 1 [Source:MGI Symbol;Acc:MGI:97564]|Heterozygous|Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable.|G|A|48|39.0|Non-synonymous|Line Propagating
5185094|IGL01068|1|87774824|S->L|0.86|Possibly damaging|MGI:1924290|Atg16l1|autophagy related 16-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1924290]|Heterozygous|Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorph alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.|C|T|41|38.0|Non-synonymous|Line Propagating
5185095|IGL01068|17|46825391|I->V|0.94|Possibly damaging|MGI:2673855|Bc032203|cDNA sequence BC032203 [Source:MGI Symbol;Acc:MGI:2673855]|Heterozygous||T|C|38|37.5|Non-synonymous|Line Propagating
5185096|IGL01068|5|70962072|I->M||Benign|MGI:95614|Gabra2|gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2 [Source:MGI Symbol;Acc:MGI:95614]|Heterozygous|Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia.|T|C|37|37.0|Non-synonymous|Line Propagating
5185097|IGL01068|5|67667337|V->A|0.48|Possibly damaging|MGI:1330848|Atp8a1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:MGI Symbol;Acc:MGI:1330848]|Heterozygous|Homozygous mutant mice are viable, fertile and phenotypically normal.|A|G|36|35.0|Non-synonymous|Line Propagating
5185098|IGL01068|17|81388942|I->V|||MGI:107956|Slc8a1|solute carrier family 8 (sodium/calcium exchanger), member 1 [Source:MGI Symbol;Acc:MGI:107956]|Heterozygous|Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.|T|C|35|36.0|Non-synonymous|Line Propagating
5185099|IGL01068|7|43504175|Disrupted splicing|||MGI:1921304|4931406b18rik|RIKEN cDNA 4931406B18 gene [Source:MGI Symbol;Acc:MGI:1921304]|Heterozygous||T|C|35|37.0|Splice|Line Propagating
5185100|IGL01068|2|106864746|H->Q|1.0|Probably damaging|MGI:1924265|Mpped2|metallophosphoesterase domain containing 2 [Source:MGI Symbol;Acc:MGI:1924265]|Heterozygous||T|A|33|39.0|Non-synonymous|Line Propagating
5185101|IGL01068|7|75866149|E->Stop||N/A|MGI:2668031|Klhl25|kelch-like 25 (Drosophila) [Source:MGI Symbol;Acc:MGI:2668031]|Heterozygous||G|T|33|33.0|Non-synonymous|Line Propagating
5185102|IGL01068|1|129596146|C->R|1.0|Probably damaging|MGI:2443925|Thsd7b|thrombospondin, type I, domain containing 7B [Source:MGI Symbol;Acc:MGI:2443925]|Heterozygous||T|C|32|34.5|Non-synonymous|Line Propagating
5185103|IGL01068|5|31061770|Disrupted splicing|||MGI:88242|Cad|carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Source:MGI Symbol;Acc:MGI:1916969]|Heterozygous||A|G|31|37.0|Splice|Line Propagating
5185104|IGL01068|11|101434142|N->S|1.0|Probably damaging|MGI:2144506|Rundc1|RUN domain containing 1 [Source:MGI Symbol;Acc:MGI:2144506]|Heterozygous||A|G|28|37.0|Non-synonymous|Line Propagating
5185105|IGL01068|8|105681485|I->F||Unknown|MGI:109447|Ctcf|CCCTC-binding factor [Source:MGI Symbol;Acc:MGI:109447]|Heterozygous|Mice homozygous for a null allele die prior to E9.5. Mice homozygous for a conditional allele activated in T cells exhibit a defect in the transition from immature single positive T cells to double positive T cells.|A|T|28|38.0|Non-synonymous|Line Propagating
5185106|IGL01068|10|4028428|S->R|1.0|Probably damaging|MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||T|A|25|35.0|Non-synonymous|Line Propagating
5185107|IGL01068|11|68902398|Y->H|0.07|Benign|MGI:106022|Rpl26|ribosomal protein L26 [Source:MGI Symbol;Acc:MGI:106022]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
5185108|IGL01068|15|4053764|F->S|1.0|Probably damaging|MGI:1914291|Oxct1|3-oxoacid CoA transferase 1 [Source:MGI Symbol;Acc:MGI:1914291]|Heterozygous|Mice homozygous for a knock-out allele exhibit hyperketonemia, ketoacidosis, increased glucose oxidation in the brain, increased autophagy in the brain, and neonatal lethality.|T|C|25|38.0|Non-synonymous|Line Propagating
5185109|IGL01068|5|14233718|Disrupted splicing|||MGI:1340034|Sema3e|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E [Source:MGI Symbol;Acc:MGI:1340034]|Heterozygous|Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc.|T|G|25|37.0|Splice|Line Propagating
5185110|IGL01068|7|12928900|Disrupted splicing|||MGI:1924198|2310014l17rik|RIKEN cDNA 2310014L17 gene [Source:MGI Symbol;Acc:MGI:1924198]|Heterozygous||T|C|23|37.0|Splice|Line Propagating
5185111|IGL01068|5|96224036|Disrupted splicing|||MGI:2137202|Mrpl1|mitochondrial ribosomal protein L1 [Source:MGI Symbol;Acc:MGI:2137202]|Heterozygous||T|A|22|37.5|Splice|Line Propagating
5185113|IGL01068|8|91042116|Y->F|0.11|Benign|MGI:1924001|Chd9|chromodomain helicase DNA binding protein 9 [Source:MGI Symbol;Acc:MGI:1924001]|Heterozygous||A|T|22|37.5|Non-synonymous|Line Propagating
5185114|IGL01068|13|42159984|P->Q|||MGI:96100|Hivep1|human immunodeficiency virus type I enhancer binding protein 1 [Source:MGI Symbol;Acc:MGI:96100]|Heterozygous||C|A|19|37.0|Non-synonymous|Line Propagating
5185115|IGL01068|4|53849024|V->G|1.0|Probably damaging|MGI:1098718|Tmem38b|transmembrane protein 38B [Source:MGI Symbol;Acc:MGI:1098718]|Heterozygous|Homozygous null newborn mice die of respiratory failure showing atelectasis, pulmonary congestion, impaired maturation of alveolar type II cells, reduced lamellar body formation, abnormal synthesis and secretion of surfactant phospholipids, and impaired Ca2+ release in alveolar type II cells.|T|G|18|37.0|Non-synonymous|Line Propagating
5185116|IGL01068|4|140730953|T->N|0.7|Possibly damaging|MGI:2655198|Padi6|peptidyl arginine deiminase, type VI [Source:MGI Symbol;Acc:MGI:2655198]|Heterozygous|Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility.|G|T|17|33.0|Non-synonymous|Line Propagating
5185117|IGL01068|10|59339335|V->A|0.99|Probably damaging|MGI:97463|P4ha1|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide [Source:MGI Symbol;Acc:MGI:97463]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation.|T|C|12|36.0|Non-synonymous|Line Propagating
5185723|IGL01069|9|39910606|M->L|||MGI:3030063|Olfr229|olfactory receptor 229 [Source:MGI Symbol;Acc:MGI:3030063]|Heterozygous||A|T|234|39.0|Non-synonymous|Line Propagating
5185724|IGL01069|10|127328952|T->A|1.0|Probably damaging|MGI:2143764|Arhgap9|Rho GTPase activating protein 9 [Source:MGI Symbol;Acc:MGI:2143764]|Heterozygous||A|G|224|35.0|Non-synonymous|Line Propagating
5185725|IGL01069|11|50985003|I->F|0.62|Possibly damaging|MGI:3031211|Olfr1377|olfactory receptor 1377 [Source:MGI Symbol;Acc:MGI:3031211]|Heterozygous||A|T|217|38.0|Non-synonymous|Line Propagating
5185726|IGL01069|12|113994759|V->I|||MGI:4439607, MGI:3581248, MGI:3052201, MGI:4361843|Ac073563.2||Heterozygous||C|T|151|38.0|Non-synonymous|Line Propagating
5185727|IGL01069|5|107907279|Disrupted splicing|||MGI:102854|Rpl5|ribosomal protein L5 [Source:MGI Symbol;Acc:MGI:102854]|Heterozygous||T|C|147|37.0|Splice|Line Propagating
5185728|IGL01069|4|88326146|H->N||Benign|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||C|A|133|39.0|Non-synonymous|Line Propagating
5185729|IGL01069|15|89352888|A->S|1.0|Probably damaging|MGI:2146015|Lmf2|lipase maturation factor 2 [Source:MGI Symbol;Acc:MGI:2146015]|Heterozygous||C|A|116|37.0|Non-synonymous|Line Propagating
5185730|IGL01069|3|41741991|Disrupted splicing|||MGI:1914411|Sclt1|sodium channel and clathrin linker 1 [Source:MGI Symbol;Acc:MGI:1914411]|Heterozygous||T|C|115|37.0|Splice|Line Propagating
5185731|IGL01069|6|35268882|L->F|1.0|Probably damaging|MGI:2442367|Slc13a4|solute carrier family 13 (sodium/sulfate symporters), member 4 [Source:MGI Symbol;Acc:MGI:2442367]|Heterozygous||C|A|98|38.0|Non-synonymous|Line Propagating
5185732|IGL01069|3|103777699|T->I|1.0|Probably damaging|MGI:1314873|Hipk1|homeodomain interacting protein kinase 1 [Source:MGI Symbol;Acc:MGI:1314873]|Heterozygous|Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.|G|A|92|36.0|Non-synonymous|Line Propagating
5185733|IGL01069|11|87109265|Disrupted splicing|||MGI:2671533|Ska2|spindle and kinetochore associated complex subunit 2 [Source:MGI Symbol;Acc:MGI:1913390]|Heterozygous|A mutation in this unidentified gene results in a looped or kinked tail in homozygotes.|A|G|90|37.5|Splice|Line Propagating
5185734|IGL01069|8|105091574|S->P|||MGI:3644960|Ces3b|carboxylesterase 3B [Source:MGI Symbol;Acc:MGI:3644960]|Heterozygous||T|C|86|39.0|Non-synonymous|Line Propagating
5185735|IGL01069|14|70191155|E->G|1.0|Probably damaging|MGI:700013|Sorbs3|sorbin and SH3 domain containing 3 [Source:MGI Symbol;Acc:MGI:700013]|Heterozygous|Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo.|T|C|84|38.0|Non-synonymous|Line Propagating
5185737|IGL01069|2|86008547|Y->C|1.0|Probably damaging|MGI:3030866|Olfr1032|olfactory receptor 1032 [Source:MGI Symbol;Acc:MGI:3030866]|Heterozygous||A|G|80|37.0|Non-synonymous|Line Propagating
5185738|IGL01069|8|93525544|Disrupted splicing|||MGI:1915185|Ces5a|carboxylesterase 5A [Source:MGI Symbol;Acc:MGI:1915185]|Heterozygous||A|G|75|38.0|Splice|Line Propagating
5185739|IGL01069|5|121867351|T->M|0.97|Probably damaging|MGI:107321|Cux2|cut-like homeobox 2 [Source:MGI Symbol;Acc:MGI:107321]|Heterozygous|Homozygotes for a targeted null mutation exhibit various neural defects.|G|A|72|35.0|Non-synonymous|Line Propagating
5185740|IGL01069|8|105887134|F->I|0.99|Probably damaging|MGI:2446249|Edc4|enhancer of mRNA decapping 4 [Source:MGI Symbol;Acc:MGI:2446249]|Heterozygous||T|A|69|34.0|Non-synonymous|Line Propagating
5185741|IGL01069|15|101453627|Stop->G||N/A|MGI:1913572|1700011a15rik|RIKEN cDNA 1700011A15 gene [Source:MGI Symbol;Acc:MGI:1913572]|Heterozygous||T|G|67|35.0|Non-synonymous|Line Propagating
5185742|IGL01069|5|138562489|A->T||Benign|MGI:1923908|1700123k08rik|RIKEN cDNA 1700123K08 gene [Source:MGI Symbol;Acc:MGI:1923908]|Heterozygous||C|T|67|37.0|Non-synonymous|Line Propagating
5185743|IGL01069|1|191561539|Disrupted splicing|||MGI:1924093|Dtl|denticleless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924093]|Heterozygous|Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation.|T|A|64|38.0|Splice|Line Propagating
5185744|IGL01069|6|84199785|I->N|0.7|Possibly damaging|MGI:1349385|Dysf|dysferlin [Source:MGI Symbol;Acc:MGI:1349385]|Heterozygous|Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.|T|A|58|36.5|Non-synonymous|Line Propagating
5185745|IGL01069|2|181825956|M->T|0.98|Probably damaging|MGI:1100535|Myt1|myelin transcription factor 1 [Source:MGI Symbol;Acc:MGI:1100535]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.|T|C|51|39.0|Non-synonymous|Line Propagating
5185746|IGL01069|2|70245391|I->V|||MGI:2448580|Myo3b|myosin IIIB [Source:MGI Symbol;Acc:MGI:2448580]|Heterozygous||A|G|48|38.0|Non-synonymous|Line Propagating
5185747|IGL01069|4|83013867|R->H|0.46|Possibly damaging|MGI:2670972|Frem1|Fras1 related extracellular matrix protein 1 [Source:MGI Symbol;Acc:MGI:2670972]|Heterozygous||C|T|47|36.0|Non-synonymous|Line Propagating
5185748|IGL01069|11|102164070|Disrupted splicing|||MGI:1919592|Lsm12|LSM12 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919592]|Heterozygous||T|C|46|36.0|Splice|Line Propagating
5185749|IGL01069|14|34224924|V->A|0.58|Possibly damaging|MGI:2442166|Syt15|synaptotagmin XV [Source:MGI Symbol;Acc:MGI:2442166]|Heterozygous||T|C|45|37.0|Non-synonymous|Line Propagating
5185750|IGL01069|15|90615110|Disrupted splicing|||MGI:1914121|Cpne8|copine VIII [Source:MGI Symbol;Acc:MGI:1914121]|Heterozygous||C|T|45|39.0|Splice|Line Propagating
5185751|IGL01069|10|68041664|D->G|0.01|Benign|MGI:2158417|Rtkn2|rhotekin 2 [Source:MGI Symbol;Acc:MGI:2158417]|Heterozygous||A|G|43|33.0|Non-synonymous|Line Propagating
5185752|IGL01069|10|80311986|C->Y|||MGI:1346052|Apc2|adenomatosis polyposis coli 2 [Source:MGI Symbol;Acc:MGI:1346052]|Heterozygous||G|A|42|36.5|Non-synonymous|Line Propagating
5185753|IGL01069|14|75270775|D->E|1.0|Probably damaging|MGI:1891837|Cpb2|carboxypeptidase B2 (plasma) [Source:MGI Symbol;Acc:MGI:1891837]|Heterozygous||T|A|37|39.0|Non-synonymous|Line Propagating
5185756|IGL01069|7|73417491|A->T|1.0|Probably damaging|MGI:2679262|Rgma|RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]|Heterozygous||G|A|35|35.0|Non-synonymous|Line Propagating
5185757|IGL01069|11|120861259|H->L|0.87|Possibly damaging|MGI:1918526|Ccdc57|coiled-coil domain containing 57 [Source:MGI Symbol;Acc:MGI:1918526]|Heterozygous||T|A|32|37.0|Non-synonymous|Line Propagating
5185758|IGL01069|12|81918144|R->G||Benign|MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||A|G|29|38.0|Non-synonymous|Line Propagating
5185759|IGL01069|11|116601751|D->G|0.41|Benign|MGI:2442473|Rhbdf2|rhomboid 5 homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2442473]|Heterozygous||T|C|27|34.0|Non-synonymous|Line Propagating
5185760|IGL01069|2|31821519|E->G|0.74|Possibly damaging|MGI:2138953|Fibcd1|fibrinogen C domain containing 1 [Source:MGI Symbol;Acc:MGI:2138953]|Heterozygous||T|C|26|32.5|Non-synonymous|Line Propagating
5185761|IGL01069|9|45943077|V->I|0.99|Probably damaging|MGI:2446134|Sidt2|SID1 transmembrane family, member 2 [Source:MGI Symbol;Acc:MGI:2446134]|Heterozygous||C|T|26|37.0|Non-synonymous|Line Propagating
5185762|IGL01069|11|94214055|F->S|1.0|Probably damaging|MGI:1349721|Tob1|transducer of ErbB-2.1 [Source:MGI Symbol;Acc:MGI:1349721]|Heterozygous|Homozygous null mice are viable and exhibit increased bone mass due to increased osteoblast proliferation and differentiation.|T|C|25|34.0|Non-synonymous|Line Propagating
5185763|IGL01069|12|87110304|T->K|0.97|Probably damaging|MGI:2444430|Pomt2|protein-O-mannosyltransferase 2 [Source:MGI Symbol;Acc:MGI:2444430]|Heterozygous||G|T|22|38.0|Non-synonymous|Line Propagating
5185764|IGL01069|9|115954839|Disrupted splicing|||MGI:1920998|Gadl1|glutamate decarboxylase-like 1 [Source:MGI Symbol;Acc:MGI:1920998]|Heterozygous||T|C|22|36.0|Splice|Line Propagating
5185765|IGL01069|8|123930982|R->Stop||N/A|MGI:5141853, MGI:2442620|Nup133,gm20388|nucleoporin 133 [Source:MGI Symbol;Acc:MGI:2442620],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development.,NO_PHENOTYPE|G|A|21|38.0|Non-synonymous|Line Propagating
5185766|IGL01069|4|98778395|I->N|1.0|Probably damaging|MGI:3043381|Kank4|KN motif and ankyrin repeat domains 4 [Source:MGI Symbol;Acc:MGI:3043381]|Heterozygous||A|T|19|38.0|Non-synonymous|Line Propagating
5185767|IGL01069|5|62649856|H->R||Benign|MGI:2684416|Arap2|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:2684416]|Heterozygous||T|C|15|38.0|Non-synonymous|Line Propagating
5186357|IGL01070|7|5883942|A->S|0.45|Possibly damaging|MGI:3033480|Vmn1r64|vomeronasal 1 receptor 64 [Source:MGI Symbol;Acc:MGI:3033480]|Heterozygous||C|A|145|38.0|Non-synonymous|Alive, Line Propagating
5186358|IGL01070|14|34745622|Disrupted splicing|||MGI:2675859|Wapal|wings apart-like homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2675859]|Heterozygous||T|C|139|39.0|Splice|Alive, Line Propagating
5186359|IGL01070|19|23231601|R->W|0.89|Possibly damaging|MGI:2385088|Smc5|structural maintenance of chromosomes 5 [Source:MGI Symbol;Acc:MGI:2385088]|Heterozygous||T|A|119|39.0|Non-synonymous|Alive, Line Propagating
5186360|IGL01070|15|79484579|L->P||Benign|MGI:104743|Kcnj4|potassium inwardly-rectifying channel, subfamily J, member 4 [Source:MGI Symbol;Acc:MGI:104743]|Heterozygous||A|G|107|33.0|Non-synonymous|Alive, Line Propagating
5186362|IGL01070|4|12054750|M->K||Benign|MGI:1923928|Tmem67|transmembrane protein 67 [Source:MGI Symbol;Acc:MGI:1923928]|Heterozygous||A|T|85|38.0|Non-synonymous|Alive, Line Propagating
5186363|IGL01070|15|65853078|V->I||Benign|MGI:1923990|Efr3a|EFR3 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1923990]|Heterozygous||G|A|79|38.0|Non-synonymous|Alive, Line Propagating
5186364|IGL01070|16|85863133|H->R|1.0|Probably damaging|MGI:1346321|Adamts5|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) [Source:MGI Symbol;Acc:MGI:1346321]|Heterozygous|Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect.|T|C|76|38.0|Non-synonymous|Alive, Line Propagating
5186365|IGL01070|1|4345238|I->V|0.97|Probably damaging|MGI:88611|Rp1|retinitis pigmentosa 1 (human) [Source:MGI Symbol;Acc:MGI:1341105]|Heterozygous|Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal.|T|C|74|38.0|Non-synonymous|Alive, Line Propagating
5186366|IGL01070|6|124061607|I->F|0.86|Possibly damaging|MGI:2678394|Vmn2r26|vomeronasal 2, receptor 26 [Source:MGI Symbol;Acc:MGI:2678394]|Heterozygous||A|T|72|39.0|Non-synonymous|Alive, Line Propagating
5186367|IGL01070|4|144271272|Y->S|1.0|Probably damaging|MGI:2156389|Pramel5|preferentially expressed antigen in melanoma like 5 [Source:MGI Symbol;Acc:MGI:2156389]|Heterozygous||T|G|70|40.0|Non-synonymous|Alive, Line Propagating
5186368|IGL01070|13|58344093|Y->H|0.99|Probably damaging|MGI:1922300|Kif27|kinesin family member 27 [Source:MGI Symbol;Acc:MGI:1922300]|Heterozygous||A|G|68|36.0|Non-synonymous|Alive, Line Propagating
5186369|IGL01070|17|43683022|K->R||Benign|MGI:1927096|Cyp39a1|cytochrome P450, family 39, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1927096]|Heterozygous||A|G|68|38.0|Non-synonymous|Alive, Line Propagating
5186370|IGL01070|15|89549416|S->P|1.0|Probably damaging|MGI:1930016|Shank3|SH3/ankyrin domain gene 3 [Source:MGI Symbol;Acc:MGI:1930016]|Heterozygous|Mice homozygous for a targeted allele that deletes isoforms alpha and beta and reduce isoform gamma exhibit over-grooming resulting in skin lesions, increased anxiety-related behavior, social withdrawal, abnormal medium spiny neuron morphology, and abnormal synpatic transmission.|T|C|66|36.0|Non-synonymous|Alive, Line Propagating
5186371|IGL01070|1|36564403|R->Q|0.96|Probably damaging|MGI:3026913|Fam178b|family with sequence similarity 178, member B [Source:MGI Symbol;Acc:MGI:3026913]|Heterozygous||C|T|54|37.0|Non-synonymous|Alive, Line Propagating
5186372|IGL01070|11|120783952|N->D|0.79|Possibly damaging|MGI:894275|Rfng|RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Source:MGI Symbol;Acc:MGI:894275]|Heterozygous|Mice homozygous for disruptions of this gene display a completely normal phenotype.|T|C|54|31.0|Non-synonymous|Alive, Line Propagating
5186373|IGL01070|19|30569343|Disrupted splicing|||MGI:108174|Prkg1|protein kinase, cGMP-dependent, type I [Source:MGI Symbol;Acc:MGI:108174]|Heterozygous|Mutant mice exhibit defects associated with disrupted NO/cGMP signalling, including abnormal smooth muscle function (peristalsis and heart contractility) and penile erectile deficiency. Conditional disruption in the hippocampus results in impaired LTP.|G|A|51|38.0|Splice|Alive, Line Propagating
5186374|IGL01070|9|42395003|D->G|1.0|Probably damaging|MGI:109575|Tecta|tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]|Heterozygous|Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.|T|C|48|37.0|Non-synonymous|Alive, Line Propagating
5186375|IGL01070|9|111366793|N->S|0.99|Probably damaging|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||A|G|48|37.0|Non-synonymous|Alive, Line Propagating
5186376|IGL01070|19|5383951|V->A|0.02|Benign|MGI:1309453|Sart1|squamous cell carcinoma antigen recognized by T cells 1 [Source:MGI Symbol;Acc:MGI:1309453]|Heterozygous||A|G|44|35.5|Non-synonymous|Alive, Line Propagating
5186377|IGL01070|3|93398176|Y->N|||MGI:1099055|Rptn|repetin [Source:MGI Symbol;Acc:MGI:1099055]|Heterozygous||T|A|44|39.0|Non-synonymous|Alive, Line Propagating
5186378|IGL01070|16|7306443|S->R|0.01|Benign|MGI:1926224|Rbfox1|RNA binding protein, fox-1 homolog (C. elegans) 1 [Source:MGI Symbol;Acc:MGI:1926224]|Heterozygous||A|C|43|37.0|Non-synonymous|Alive, Line Propagating
5186379|IGL01070|6|126865879|E->V|0.27|Benign|MGI:1341149|Akap3|A kinase (PRKA) anchor protein 3 [Source:MGI Symbol;Acc:MGI:1341149]|Heterozygous||A|T|42|34.5|Non-synonymous|Alive, Line Propagating
5186380|IGL01070|11|93869848|S->T|0.74|Possibly damaging|MGI:1923402|Utp18|UTP18, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:1923402]|Heterozygous||A|T|36|37.5|Non-synonymous|Alive, Line Propagating
5186381|IGL01070|9|44801590|Disrupted splicing|||MGI:2384760|Ttc36|tetratricopeptide repeat domain 36 [Source:MGI Symbol;Acc:MGI:2384760]|Heterozygous||T|C|35|36.0|Splice|Alive, Line Propagating
5186382|IGL01070|2|30014173|Disrupted splicing|||MGI:98386|Spna2|spectrin alpha 2 [Source:MGI Symbol;Acc:MGI:98386]|Heterozygous|Homozygous deletion of the exons encoding the CCC (calpain, caspase, calmodulin ) region are healthy, fertile and behaviorally normal with no detectable histological abnormalities at the cellular or organ level.|G|A|32|38.0|Splice|Alive, Line Propagating
5186383|IGL01070|1|10088145|Y->H|1.0|Probably damaging|MGI:2681832|Cspp1|centrosome and spindle pole associated protein 1 [Source:MGI Symbol;Acc:MGI:2681832]|Heterozygous||T|C|30|38.0|Non-synonymous|Alive, Line Propagating
5186384|IGL01070|11|21312268|V->D|1.0|Probably damaging|MGI:2178798|Vps54|vacuolar protein sorting 54 (yeast) [Source:MGI Symbol;Acc:MGI:2178798]|Heterozygous|Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.|T|A|30|39.5|Non-synonymous|Alive, Line Propagating
5186386|IGL01070|1|53061997|I->L|0.03|Benign|MGI:95691|Mstn|myostatin [Source:MGI Symbol;Acc:MGI:95691]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit markedly increased size of striated muscle due to both hyperplasia and hypertrophy, reduced adiposity, and increased bone mineral density.|A|T|27|39.0|Non-synonymous|Alive, Line Propagating
5186387|IGL01070|19|56329084|D->G|1.0|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||T|C|26|37.0|Non-synonymous|Alive, Line Propagating
5186389|IGL01070|13|49378316|S->P|1.0|Probably damaging|MGI:1924145|Bicd2|bicaudal D homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1924145]|Heterozygous||T|C|19|37.0|Non-synonymous|Alive, Line Propagating
5186390|IGL01070|14|54220766|T->A|||MGI:4439838|Trac|T cell receptor alpha constant [Source:MGI Symbol;Acc:MGI:4439838]|Heterozygous||A|G|17|35.0|Non-synonymous|Alive, Line Propagating
5186392|IGL01070|14|55942697|S->P||Benign|MGI:96941|Cma1|chymase 1, mast cell [Source:MGI Symbol;Acc:MGI:96941]|Heterozygous|Mice homozygous for a knock-out allele display a reduction in mast cell-mediated ischemia reperfusion injury of skeletal muscle.|A|G|10|34.0|Non-synonymous|Alive, Line Propagating
5186982|IGL01071|18|20409215|S->R|0.04|Benign|MGI:2664357|Dsg1b|desmoglein 1 beta [Source:MGI Symbol;Acc:MGI:2664357]|Heterozygous||T|A|227|38.0|Non-synonymous|Line Propagating
5186983|IGL01071|7|140652914|H->Y|||MGI:1333749|Olfr53|olfactory receptor 53 [Source:MGI Symbol;Acc:MGI:1333749]|Heterozygous||C|T|175|38.0|Non-synonymous|Line Propagating
5186984|IGL01071|7|140373185|A->T|0.06|Benign|MGI:3030364|Olfr530|olfactory receptor 530 [Source:MGI Symbol;Acc:MGI:3030364]|Heterozygous||C|T|138|36.0|Non-synonymous|Line Propagating
5186985|IGL01071|18|37504685|E->G|0.89|Possibly damaging|MGI:2136758|Pcdhb20|protocadherin beta 20 [Source:MGI Symbol;Acc:MGI:2136758]|Heterozygous||A|G|119|39.0|Non-synonymous|Line Propagating
5186986|IGL01071|17|57254332|R->S|0.82|Possibly damaging|MGI:2146901|Trip10|thyroid hormone receptor interactor 10 [Source:MGI Symbol;Acc:MGI:2146901]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking.|C|A|92|36.5|Non-synonymous|Line Propagating
5186987|IGL01071|7|86363560|K->R|1.0|Probably damaging|MGI:3030139|Olfr305|olfactory receptor 305 [Source:MGI Symbol;Acc:MGI:3030139]|Heterozygous||T|C|82|39.0|Non-synonymous|Line Propagating
5186988|IGL01071|17|74566132|D->G|||MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|A|G|65|32.0|Non-synonymous|Line Propagating
5186989|IGL01071|5|38530067|K->R|1.0|Probably damaging|MGI:1337100|Wdr1|WD repeat domain 1 [Source:MGI Symbol;Acc:MGI:1337100]|Heterozygous||T|C|65|39.0|Non-synonymous|Line Propagating
5186990|IGL01071|2|89023175|V->A||Benign|MGI:3031051|Olfr1217|olfactory receptor 1217 [Source:MGI Symbol;Acc:MGI:3031051]|Heterozygous||A|G|57|38.0|Non-synonymous|Line Propagating
5186991|IGL01071|13|108357441|Y->F||Benign|MGI:2145425|Depdc1b|DEP domain containing 1B [Source:MGI Symbol;Acc:MGI:2145425]|Heterozygous||A|T|55|38.0|Non-synonymous|Line Propagating
5186992|IGL01071|5|108419715|W->Stop||N/A|MGI:97525|Pde6b|phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide [Source:MGI Symbol;Acc:MGI:97525]|Heterozygous|Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes.|G|A|55|33.0|Non-synonymous|Line Propagating
5186993|IGL01071|2|61800063|T->A||Benign|MGI:1913284|Psmd14|proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 [Source:MGI Symbol;Acc:MGI:1913284]|Heterozygous||A|G|49|37.0|Non-synonymous|Line Propagating
5186994|IGL01071|6|65953153|D->A|0.96|Probably damaging|MGI:1914903|4930544g11rik|RIKEN cDNA 4930544G11 gene [Source:MGI Symbol;Acc:MGI:1914903]|Heterozygous||A|C|49|37.0|Non-synonymous|Line Propagating
5186995|IGL01071|9|57550592|I->N|1.0|Probably damaging|MGI:97075|Mpi|mannose phosphate isomerase [Source:MGI Symbol;Acc:MGI:97075]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, variable abnormalities of the yolk sac and embryonic vasculature, and partial penetrance of abnormal chorioallantoic fusion, placental defects, impaired emrbyo turning, increased apoptosis, and posterior axial truncations.|A|T|43|37.0|Non-synonymous|Line Propagating
5186996|IGL01071|5|139808473|V->G|||MGI:2385897|Tmem184a|transmembrane protein 184a [Source:MGI Symbol;Acc:MGI:2385897]|Heterozygous||A|C|40|35.0|Non-synonymous|Line Propagating
5186997|IGL01071|18|32123717|D->G|1.0|Probably damaging|MGI:97771|Proc|protein C [Source:MGI Symbol;Acc:MGI:97771]|Heterozygous|Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice.|T|C|38|35.5|Non-synonymous|Line Propagating
5186998|IGL01071|6|102420251|Disrupted splicing|||MGI:99534|Cntn3|contactin 3 [Source:MGI Symbol;Acc:MGI:99534]|Heterozygous||A|T|37|40.0|Splice|Line Propagating
5186999|IGL01071|14|27442622|Disrupted splicing|||MGI:1921694|D14abb1e|DNA segment, Chr 14, Abbott 1 expressed [Source:MGI Symbol;Acc:MGI:1921694]|Heterozygous||T|A|36|38.0|Splice|Line Propagating
5187000|IGL01071|11|97149562|I->V|0.07|Benign|MGI:1920424|Tbkbp1|TBK1 binding protein 1 [Source:MGI Symbol;Acc:MGI:1920424]|Heterozygous||T|C|33|38.0|Non-synonymous|Line Propagating
5187001|IGL01071|19|12719000|Y->N|1.0|Probably damaging|MGI:1928492|Keg1|kidney expressed gene 1 [Source:MGI Symbol;Acc:MGI:1928492]|Heterozygous||T|A|33|35.0|Non-synonymous|Line Propagating
5187002|IGL01071|17|57299176|Y->H|0.31|Benign|MGI:98923|Vav1|vav 1 oncogene [Source:MGI Symbol;Acc:MGI:98923]|Heterozygous|Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help.|T|C|32|38.0|Non-synonymous|Line Propagating
5187003|IGL01071|2|156294088|Disrupted splicing|||MGI:2444148|Phf20|PHD finger protein 20 [Source:MGI Symbol;Acc:MGI:2444148]|Heterozygous||T|A|32|39.0|Splice|Line Propagating
5187004|IGL01071|8|61225959|C->S|1.0|Probably damaging|MGI:1913066|Sh3rf1|SH3 domain containing ring finger 1 [Source:MGI Symbol;Acc:MGI:1913066]|Heterozygous||T|A|30|34.0|Non-synonymous|Line Propagating
5187005|IGL01071|1|92945075|W->R|0.98|Probably damaging|MGI:1344392|Capn10|calpain 10 [Source:MGI Symbol;Acc:MGI:1344392]|Heterozygous|Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis. Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J.|T|A|28|36.0|Non-synonymous|Line Propagating
5187006|IGL01071|11|29850816|Disrupted splicing|||MGI:2442895|Eml6|echinoderm microtubule associated protein like 6 [Source:MGI Symbol;Acc:MGI:2442895]|Heterozygous||A|G|23|36.0|Splice|Line Propagating
5187007|IGL01071|18|60980156|Disrupted splicing|||MGI:88256|Camk2a|calcium/calmodulin-dependent protein kinase II alpha [Source:MGI Symbol;Acc:MGI:88256]|Heterozygous|Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes.|T|C|21|38.0|Splice|Line Propagating
5187008|IGL01071|1|18137007|V->A||Unknown|MGI:1925331|Crisp4|cysteine-rich secretory protein 4 [Source:MGI Symbol;Acc:MGI:1925331]|Heterozygous|Mice homozygous for a null mutation display an impaired acrosome reaction in response to progesterone but are fertile with normal testis morphology and weight.|A|G|20|39.0|Non-synonymous|Line Propagating
5187009|IGL01071|11|8848921|H->Q|0.01|Benign|MGI:2156538|Pkd1l1|polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]|Heterozygous|Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.|A|T|20|31.0|Non-synonymous|Line Propagating
5187010|IGL01071|17|74631701|N->Y|||MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|A|T|19|40.0|Non-synonymous|Line Propagating
5187011|IGL01071|10|10557847|A->V|1.0|Probably damaging|MGI:1915094|Rab32|RAB32, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1915094]|Heterozygous||G|A|17|35.0|Non-synonymous|Line Propagating
5187012|IGL01071|4|150120733|Disrupted splicing|||MGI:1928369|Slc2a5|solute carrier family 2 (facilitated glucose transporter), member 5 [Source:MGI Symbol;Acc:MGI:1928369]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance.|A|G|14|36.0|Splice|Line Propagating
5187013|IGL01071|7|29324220|V->M|||MGI:1921456|Sipa1l3|signal-induced proliferation-associated 1 like 3 [Source:MGI Symbol;Acc:MGI:1921456]|Heterozygous||C|T|12|37.0|Non-synonymous|Line Propagating
5187014|IGL01071|11|95021468|Disrupted splicing|||MGI:2384945|Samd14|sterile alpha motif domain containing 14 [Source:MGI Symbol;Acc:MGI:2384945]|Heterozygous||G|A|11|37.0|Splice|Line Propagating
5187015|IGL01071|7|100885700|V->L|0.91|Possibly damaging|MGI:2673002|Arhgef17|Rho guanine nucleotide exchange factor (GEF) 17 [Source:MGI Symbol;Acc:MGI:2673002]|Heterozygous||C|A|11|34.0|Non-synonymous|Line Propagating
5187016|IGL01071|14|12509091|Disrupted splicing|||MGI:1350922|Cadps|Ca2+-dependent secretion activator [Source:MGI Symbol;Acc:MGI:1350922]|Heterozygous|Homozygous null mice display neonatal lethality, respiratory failure and abnormal adrenal gland physiology. Adult heterozygous null mice display abnormal adrenal gland physiology that is different from that seen in homozygous neonates.|C|T|10|38.5|Splice|Line Propagating
5190547|IGL01072|5|145791628|D->G|0.13|Benign|MGI:2449818|Cyp3a44|cytochrome P450, family 3, subfamily a, polypeptide 44 [Source:MGI Symbol;Acc:MGI:2449818]|Heterozygous||T|C|81|38.0|Non-synonymous|Line Propagating
5190548|IGL01072|13|23035130|Y->H|0.43|Benign|MGI:2159663|Vmn1r214|vomeronasal 1 receptor 214 [Source:MGI Symbol;Acc:MGI:2159663]|Heterozygous||T|C|67|37.0|Non-synonymous|Line Propagating
5190549|IGL01072|11|4789713|L->R||Benign|MGI:97307|Nf2|neurofibromatosis 2 [Source:MGI Symbol;Acc:MGI:97307]|Heterozygous|Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2.|A|C|55|36.0|Non-synonymous|Line Propagating
5190550|IGL01072|7|33744009|D->V|0.99|Probably damaging|MGI:3649643|Scgb1b24|secretoglobin, family 1B, member 24 [Source:MGI Symbol;Acc:MGI:3649643]|Heterozygous||A|T|38|35.5|Non-synonymous|Line Propagating
5190551|IGL01072|16|48074156|V->A|1.0|Probably damaging|MGI:3643404|Gm7275|predicted gene 7275 [Source:MGI Symbol;Acc:MGI:3643404]|Heterozygous||T|C|32|35.0|Non-synonymous|Line Propagating
5190552|IGL01072|9|109723837|F->I|1.0|Probably damaging|MGI:3646662|Fbxw26|F-box and WD-40 domain protein 26 [Source:MGI Symbol;Acc:MGI:3646662]|Heterozygous||A|T|31|37.0|Non-synonymous|Line Propagating
5190553|IGL01072|5|144784255|Disrupted splicing|||MGI:2153272|Trrap|transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]|Heterozygous|Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.|C|A|30|39.0|Splice|Line Propagating
5190554|IGL01072|7|131085368|Disrupted splicing|||MGI:106210|Dmbt1|deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]|Heterozygous|Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.|C|T|29|39.0|Splice|Line Propagating
5190555|IGL01072|13|35902034|G->C|1.0|Probably damaging|MGI:1346084|Rpp40|ribonuclease P 40 subunit (human) [Source:MGI Symbol;Acc:MGI:1346084]|Heterozygous||C|A|27|38.0|Non-synonymous|Line Propagating
5190556|IGL01072|10|123010539|Y->Stop||N/A|MGI:1914324|Mon2|MON2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1914324]|Heterozygous||A|T|25|39.0|Non-synonymous|Line Propagating
5190557|IGL01072|4|119610029|M->V||Benign|MGI:2443432|Foxj3|forkhead box J3 [Source:MGI Symbol;Acc:MGI:2443432]|Heterozygous|Homozygous null mice have an abnormal skeletal muscle fiber type ratio in males as well as defects in muscle regeneration following injury.|A|G|22|39.5|Non-synonymous|Line Propagating
5190558|IGL01072|9|57036703|T->I|0.98|Probably damaging|MGI:1928376|Ptpn9|protein tyrosine phosphatase, non-receptor type 9 [Source:MGI Symbol;Acc:MGI:1928376]|Heterozygous|Mice homozygous for a null allele display hemorrhages, craniofacial anomalies, neural tube defects such as exencephaly and meningomyeloceles, cerebral infarctions, abnormal bone development, and >90% late embryonic lethality in addition to severe defects in T lymphocyte and platelet activation.|C|T|22|37.5|Non-synonymous|Line Propagating
5190559|IGL01072|15|98708396|M->L||Unknown|MGI:2146001|Ccdc65|coiled-coil domain containing 65 [Source:MGI Symbol;Acc:MGI:2146001]|Heterozygous||A|T|16|36.0|Non-synonymous|Line Propagating
5190560|IGL01072|2|32912415|Disrupted splicing|||MGI:2442910|Fam129b|family with sequence similarity 129, member B [Source:MGI Symbol;Acc:MGI:2442910]|Heterozygous||T|C|16|38.0|Splice|Line Propagating
5190561|IGL01072|12|100573898|V->A||Benign|MGI:1920336|Rps6ka5|ribosomal protein S6 kinase, polypeptide 5 [Source:MGI Symbol;Acc:MGI:1920336]|Heterozygous|Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose.|A|G|15|39.0|Non-synonymous|Line Propagating
5190562|IGL01072|10|78052771|N->S|0.27|Benign|MGI:1859287|Dnmt3l|DNA (cytosine-5-)-methyltransferase 3-like [Source:MGI Symbol;Acc:MGI:1859287]|Heterozygous|Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation.|A|G|13|37.0|Non-synonymous|Line Propagating
5190563|IGL01072|2|60354496|D->V|1.0|Probably damaging|MGI:106662|Ly75|lymphocyte antigen 75 [Source:MGI Symbol;Acc:MGI:106662]|Heterozygous||T|A|13|37.0|Non-synonymous|Line Propagating
5190564|IGL01072|2|130635445|E->G|0.99|Probably damaging|MGI:2656976|Prosapip1|ProSAPiP1 protein [Source:MGI Symbol;Acc:MGI:2656976]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
5190565|IGL01072|15|6789562|D->G|1.0|Probably damaging|MGI:1926007|Rictor|RPTOR independent companion of MTOR, complex 2 [Source:MGI Symbol;Acc:MGI:1926007]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology.|A|G|12|39.0|Non-synonymous|Line Propagating
5190566|IGL01072|7|97400283|V->D|0.95|Probably damaging|MGI:1344370|Ndufc2|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 [Source:MGI Symbol;Acc:MGI:1344370]|Heterozygous||T|A|12|33.0|Non-synonymous|Line Propagating
5191136|IGL01073|6|123712800|T->P|0.44|Possibly damaging|MGI:3646826|Vmn2r23|vomeronasal 2, receptor 23 [Source:MGI Symbol;Acc:MGI:3646826]|Heterozygous||A|C|40|36.5|Non-synonymous|Alive, Line Propagating
5191137|IGL01073|1|100076030|D->V|0.99|Probably damaging|MGI:3664583|Cntnap5b|contactin associated protein-like 5B [Source:MGI Symbol;Acc:MGI:3664583]|Heterozygous||A|T|31|35.0|Non-synonymous|Alive, Line Propagating
5191138|IGL01073|2|89193137|L->Q|0.57|Possibly damaging|MGI:3031060|Olfr1226|olfactory receptor 1226 [Source:MGI Symbol;Acc:MGI:3031060]|Heterozygous||A|T|28|39.0|Non-synonymous|Alive, Line Propagating
5191139|IGL01073|2|126718114|K->N|0.82|Possibly damaging|MGI:1934029|Usp8|ubiquitin specific peptidase 8 [Source:MGI Symbol;Acc:MGI:1934029]|Heterozygous|Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects.|A|T|25|39.0|Non-synonymous|Alive, Line Propagating
5191140|IGL01073|16|20500296|K->Stop||N/A|MGI:2446176|Eif2b5|eukaryotic translation initiation factor 2B, subunit 5 epsilon [Source:MGI Symbol;Acc:MGI:2446176]|Heterozygous||A|T|24|40.0|Non-synonymous|Alive, Line Propagating
5191141|IGL01073|14|59389348|S->T||Benign|MGI:3648476|Gm6907|predicted gene 6907 [Source:MGI Symbol;Acc:MGI:3648476]|Heterozygous||A|T|20|40.0|Non-synonymous|Alive, Line Propagating
5191142|IGL01073|5|146958980|R->L|0.99|Probably damaging|MGI:1923616|Mtif3|mitochondrial translational initiation factor 3 [Source:MGI Symbol;Acc:MGI:1923616]|Heterozygous||C|A|20|36.0|Non-synonymous|Alive, Line Propagating
5191143|IGL01073|9|83395475|K->N|||MGI:1923032|Lca5|Leber congenital amaurosis 5 (human) [Source:MGI Symbol;Acc:MGI:1923032]|Heterozygous||T|A|20|37.0|Non-synonymous|Alive, Line Propagating
5191144|IGL01073|11|78154488|I->V|0.1|Benign|MGI:2384939|Bc017647|cDNA sequence BC017647 [Source:MGI Symbol;Acc:MGI:2384939]|Heterozygous||A|G|19|38.0|Non-synonymous|Alive, Line Propagating
5191145|IGL01073|2|25255724|I->L||Benign|MGI:2443597|Tmem203|transmembrane protein 203 [Source:MGI Symbol;Acc:MGI:2443597]|Heterozygous||A|C|19|37.0|Non-synonymous|Alive, Line Propagating
5191146|IGL01073|9|50754555|K->R|1.0|Probably damaging|MGI:88516|Cryab|crystallin, alpha B [Source:MGI Symbol;Acc:MGI:88516]|Heterozygous|Mice homozygous or heterozygous for a knock-in allele exhibit cataract and myopathy.|A|G|19|37.0|Non-synonymous|Alive, Line Propagating
5191147|IGL01073|11|120783921|R->H|0.05|Benign|MGI:894275|Rfng|RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Source:MGI Symbol;Acc:MGI:894275]|Heterozygous|Mice homozygous for disruptions of this gene display a completely normal phenotype.|C|T|18|33.0|Non-synonymous|Alive, Line Propagating
5191148|IGL01073|12|89254740|M->V|||MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|A|G|18|37.0|Non-synonymous|Alive, Line Propagating
5191149|IGL01073|4|44137645|M->T|0.07|Benign|MGI:1920719|Rnf38|ring finger protein 38 [Source:MGI Symbol;Acc:MGI:1920719]|Heterozygous||A|G|18|38.5|Non-synonymous|Alive, Line Propagating
5191150|IGL01073|10|81639322|D->G||Unknown|MGI:1890394|Ankrd24|ankyrin repeat domain 24 [Source:MGI Symbol;Acc:MGI:1890394]|Heterozygous||A|G|15|37.0|Non-synonymous|Alive, Line Propagating
5191151|IGL01073|10|53021960|T->A|0.98|Probably damaging|MGI:2139810|Slc35f1|solute carrier family 35, member F1 [Source:MGI Symbol;Acc:MGI:2139810]|Heterozygous||A|G|14|40.0|Non-synonymous|Alive, Line Propagating
5191152|IGL01073|17|12584349|F->L||Benign|MGI:1335072|Slc22a2|solute carrier family 22 (organic cation transporter), member 2 [Source:MGI Symbol;Acc:MGI:1335072]|Heterozygous||C|A|14|34.0|Non-synonymous|Alive, Line Propagating
5191153|IGL01073|17|80422747|F->S|0.98|Probably damaging|MGI:98354|Sos1|son of sevenless homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:98354]|Heterozygous|Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene.|A|G|14|40.5|Non-synonymous|Alive, Line Propagating
5191154|IGL01073|6|108413820|N->T||Benign|MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|A|C|14|37.5|Non-synonymous|Alive, Line Propagating
5191155|IGL01073|15|83118081|A->V|0.48|Possibly damaging|MGI:1922028|Rrp7a|ribosomal RNA processing 7 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1922028]|Heterozygous||G|A|12|38.0|Non-synonymous|Alive, Line Propagating
5191156|IGL01073|17|47594845|T->A||Benign|MGI:88315|Ccnd3|cyclin D3 [Source:MGI Symbol;Acc:MGI:88315]|Heterozygous||A|G|12|32.0|Non-synonymous|Alive, Line Propagating
5191157|IGL01073|2|127214912|Disrupted splicing|||MGI:2444401|Snrnp200|small nuclear ribonucleoprotein 200 (U5) [Source:MGI Symbol;Acc:MGI:2444401]|Heterozygous||A|T|12|39.0|Splice|Alive, Line Propagating
5191158|IGL01073|11|83121337|Y->F||Benign|MGI:1313259|Slfn1|schlafen 1 [Source:MGI Symbol;Acc:MGI:1313259]|Heterozygous|Mice homozygous for a null mutation were normal life span. No change in thymus cellularity or alteration in the expression of a variety of cell surface markers were found.|A|T|10|38.0|Non-synonymous|Alive, Line Propagating
5191159|IGL01073|2|153670842|Disrupted splicing|||MGI:1261819|Dnmt3b|DNA methyltransferase 3B [Source:MGI Symbol;Acc:MGI:1261819]|Heterozygous|Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.|G|A|10|40.0|Splice|Alive, Line Propagating
5191160|IGL01073|5|33748800|D->G|0.74|Possibly damaging|MGI:1932557|Letm1|leucine zipper-EF-hand containing transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:1932557]|Heterozygous||T|C|10|36.0|Non-synonymous|Alive, Line Propagating
5191161|IGL01073|6|137377088|N->S|1.0|Probably damaging|MGI:1097152|Ptpro|protein tyrosine phosphatase, receptor type, O [Source:MGI Symbol;Acc:MGI:1097152]|Heterozygous|Mice homozygous for one allele display impaired glomerular filtration due to podocyte structural anomalies and a predisposition for hypertension. Mice homozygous for a second allele exhibit susceptibility to pharmacologically induced seizures.|A|G|10|37.5|Non-synonymous|Alive, Line Propagating
5191162|IGL01073|7|102226454|Disrupted splicing|||MGI:2385286|Pgap2|post-GPI attachment to proteins 2 [Source:MGI Symbol;Acc:MGI:2385286]|Heterozygous||T|A|10|39.0|Splice|Alive, Line Propagating
5191723|IGL01074|15|82314290|S->P|0.9|Possibly damaging|MGI:1921966|Wbp2nl|WBP2 N-terminal like [Source:MGI Symbol;Acc:MGI:1921966]|Heterozygous||T|C|369|36.0|Non-synonymous|Alive, Line Propagating
5191724|IGL01074|4|87791881|V->L||Benign|MGI:1917372|Mllt3|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 [Source:MGI Symbol;Acc:MGI:1917372]|Heterozygous|About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra.|C|A|149|37.0|Non-synonymous|Alive, Line Propagating
5191726|IGL01074|15|76305748|P->S|1.0|Probably damaging|MGI:1922725|Oplah|5-oxoprolinase (ATP-hydrolysing) [Source:MGI Symbol;Acc:MGI:1922725]|Heterozygous||G|A|106|37.0|Non-synonymous|Alive, Line Propagating
5191727|IGL01074|5|76343927|V->F|1.0|Probably damaging|MGI:1860476|Nmu|neuromedin U [Source:MGI Symbol;Acc:MGI:1860476]|Heterozygous|Homozygous null mice are healthy and viable.|C|A|90|40.0|Non-synonymous|Alive, Line Propagating
5191728|IGL01074|2|89111679|T->A|0.86|Possibly damaging|MGI:3031055|Olfr1221|olfactory receptor 1221 [Source:MGI Symbol;Acc:MGI:3031055]|Heterozygous||T|C|80|38.0|Non-synonymous|Alive, Line Propagating
5191729|IGL01074|10|80013892|D->G|0.99|Probably damaging|MGI:1351646|Abca7|ATP-binding cassette, sub-family A (ABC1), member 7 [Source:MGI Symbol;Acc:MGI:1351646]|Heterozygous|Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size.|A|G|68|32.0|Non-synonymous|Alive, Line Propagating
5191730|IGL01074|13|68796654|I->N|0.89|Possibly damaging|MGI:99676|Adcy2|adenylate cyclase 2 [Source:MGI Symbol;Acc:MGI:99676]|Heterozygous||A|T|65|39.0|Non-synonymous|Alive, Line Propagating
5191731|IGL01074|4|18110584|Disrupted splicing|||MGI:1276107|Mmp16|matrix metallopeptidase 16 [Source:MGI Symbol;Acc:MGI:1276107]|Heterozygous|Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a null allele exhibit reduced skeletal growth.|T|C|65|38.0|Splice|Alive, Line Propagating
5191732|IGL01074|7|46225250|Disrupted splicing|||MGI:1919338|Ush1c|Usher syndrome 1C [Source:MGI Symbol;Acc:MGI:1919338]|Heterozygous|Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.|A|G|63|37.0|Splice|Alive, Line Propagating
5191733|IGL01074|11|67032173|Disrupted splicing|||MGI:2443691|Tmem220|transmembrane protein 220 [Source:MGI Symbol;Acc:MGI:2443691]|Heterozygous||T|C|60|34.0|Splice|Alive, Line Propagating
5191734|IGL01074|5|89179774|L->H|1.0|Probably damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|T|A|57|37.0|Non-synonymous|Alive, Line Propagating
5191735|IGL01074|13|24464255|D->G|0.2|Benign|MGI:103227|Cmah|cytidine monophospho-N-acetylneuraminic acid hydroxylase [Source:MGI Symbol;Acc:MGI:103227]|Heterozygous|Mice with homozygous mutation of Cmah show subtle incidence of lethality, with slightly abnormal B and T cell physiolgy, including cytokine production in response to stimulation.|A|G|47|38.0|Non-synonymous|Alive, Line Propagating
5191736|IGL01074|18|22522845|V->A|0.79|Possibly damaging|MGI:2685175|Asxl3|additional sex combs like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685175]|Heterozygous||T|C|45|35.0|Non-synonymous|Alive, Line Propagating
5191737|IGL01074|11|97217811|T->A|0.09|Benign|MGI:1101358|Npepps|aminopeptidase puromycin sensitive [Source:MGI Symbol;Acc:MGI:1101358]|Heterozygous|Homozygotes for a gene-trapped mutation exhibit dwarfism, increased anxiety, decreased pain sensitivity, and infertility in both sexes. Females fail to produce the corpus luteum of pregnancy, while males fail to copulate and have impaired spermatogenesis.|T|C|44|36.0|Non-synonymous|Alive, Line Propagating
5191738|IGL01074|1|172599113|V->M|1.0|Probably damaging|MGI:3618339|Fcrl6|Fc receptor-like 6 [Source:MGI Symbol;Acc:MGI:3618339]|Heterozygous||C|T|43|38.0|Non-synonymous|Alive, Line Propagating
5191739|IGL01074|10|24279384|R->G|0.19|Benign|MGI:1921582|Moxd1|monooxygenase, DBH-like 1 [Source:MGI Symbol;Acc:MGI:1921582]|Heterozygous||A|G|42|39.0|Non-synonymous|Alive, Line Propagating
5191740|IGL01074|3|94403288|V->A||Benign|MGI:2444651|Lingo4|leucine rich repeat and Ig domain containing 4 [Source:MGI Symbol;Acc:MGI:2444651]|Heterozygous||T|C|40|35.0|Non-synonymous|Alive, Line Propagating
5191741|IGL01074|1|184727813|D->G|1.0|Probably damaging|MGI:96109|Hlx|H2.0-like homeobox [Source:MGI Symbol;Acc:MGI:96109]|Heterozygous|Mice homozygous for disrputions in this gene die as embryos as a result of defective organogenesis and fetal hematopoiesis.|T|C|39|35.0|Non-synonymous|Alive, Line Propagating
5191742|IGL01074|16|22063704|R->W|1.0|Probably damaging|MGI:1890358|Igf2bp2|insulin-like growth factor 2 mRNA binding protein 2 [Source:MGI Symbol;Acc:MGI:1890358]|Heterozygous||G|A|38|37.5|Non-synonymous|Alive, Line Propagating
5191743|IGL01074|8|94063006|W->L|0.77|Possibly damaging|MGI:2442978|Ogfod1|2-oxoglutarate and iron-dependent oxygenase domain containing 1 [Source:MGI Symbol;Acc:MGI:2442978]|Heterozygous||G|T|38|36.0|Non-synonymous|Alive, Line Propagating
5191744|IGL01074|12|76031587|Q->Stop||N/A|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|C|T|37|38.0|Non-synonymous|Alive, Line Propagating
5191745|IGL01074|2|65107848|S->P|0.99|Probably damaging|MGI:2442894|Cobll1|Cobl-like 1 [Source:MGI Symbol;Acc:MGI:2442894]|Heterozygous||A|G|36|37.5|Non-synonymous|Alive, Line Propagating
5191746|IGL01074|14|75658768|N->K|0.08|Benign|MGI:1922522|4930564b18rik|RIKEN cDNA 4930564B18 gene [Source:MGI Symbol;Acc:MGI:1922522]|Heterozygous||T|A|35|37.0|Non-synonymous|Alive, Line Propagating
5191747|IGL01074|1|150627033|S->P|0.45|Possibly damaging|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||A|G|34|39.0|Non-synonymous|Alive, Line Propagating
5191748|IGL01074|8|21297576|F->L|0.89|Possibly damaging|MGI:99583|Defa5|defensin, alpha, 5 [Source:MGI Symbol;Acc:MGI:99583]|Heterozygous||T|A|29|36.0|Non-synonymous|Alive, Line Propagating
5191749|IGL01074|10|116779585|N->S|0.02|Benign|MGI:2685085|Gm239|predicted gene 239 [Source:MGI Symbol;Acc:MGI:2685085]|Heterozygous||T|C|26|36.5|Non-synonymous|Alive, Line Propagating
5191750|IGL01074|5|52368198|Q->Stop||N/A|MGI:103181|Sod3|superoxide dismutase 3, extracellular [Source:MGI Symbol;Acc:MGI:103181]|Heterozygous||C|T|25|33.0|Non-synonymous|Alive, Line Propagating
5191751|IGL01074|12|75987011|I->T||Benign|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|T|C|21|38.0|Non-synonymous|Alive, Line Propagating
5191752|IGL01074|9|56898865|L->P|1.0|Probably damaging|MGI:2153093|Cspg4|chondroitin sulfate proteoglycan 4 [Source:MGI Symbol;Acc:MGI:2153093]|Heterozygous|Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.|T|C|20|39.0|Non-synonymous|Alive, Line Propagating
5191753|IGL01074|10|39098488|Disrupted splicing|||MGI:109321|Lama4|laminin, alpha 4 [Source:MGI Symbol;Acc:MGI:109321]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects.|T|C|17|35.0|Splice|Alive, Line Propagating
5191755|IGL01074|17|27879291|I->V|0.01|Benign|MGI:3041238|Uhrf1bp1|UHRF1 (ICBP90) binding protein 1 [Source:MGI Symbol;Acc:MGI:3041238]|Heterozygous||A|G|17|40.0|Non-synonymous|Alive, Line Propagating
5192324|IGL01075|2|87896921|T->A||Benign|MGI:3030987|Olfr1153|olfactory receptor 1153 [Source:MGI Symbol;Acc:MGI:3030987]|Heterozygous||A|G|164|36.0|Non-synonymous|Line Propagating
5192325|IGL01075|2|140120745|V->A|0.07|Benign|MGI:1913830|Esf1|ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913830]|Heterozygous||A|G|134|35.0|Non-synonymous|Line Propagating
5192326|IGL01075|X|7936452|Disrupted splicing|||MGI:1333752|Hdac6|histone deacetylase 6 [Source:MGI Symbol;Acc:MGI:1333752]|Heterozygous|Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density.|T|C|96|38.0|Splice|Line Propagating
5192327|IGL01075|10|76422904|Q->Stop||N/A|MGI:102722|Pcnt|pericentrin (kendrin) [Source:MGI Symbol;Acc:MGI:102722]|Heterozygous|Mice homozygous for ENU mutations exhibit perinatal lethality, polydactyly, and abnormal interneuron migration. Heterozygotes exhibit sporadic seizures.|G|A|91|38.0|Non-synonymous|Line Propagating
5192328|IGL01075|11|8478399|P->S|1.0|Probably damaging|MGI:2443012|Tns3|tensin 3 [Source:MGI Symbol;Acc:MGI:2443012]|Heterozygous|Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation.|G|A|88|38.0|Non-synonymous|Line Propagating
5192329|IGL01075|4|106671648|I->M||Benign|MGI:1919604|Ttc4|tetratricopeptide repeat domain 4 [Source:MGI Symbol;Acc:MGI:1919604]|Heterozygous||T|C|83|40.0|Non-synonymous|Line Propagating
5192330|IGL01075|16|26680237|N->T|0.86|Possibly damaging|MGI:104975|Il1rap|interleukin 1 receptor accessory protein [Source:MGI Symbol;Acc:MGI:104975]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal but show no biological response to IL-1.|A|C|76|38.0|Non-synonymous|Line Propagating
5192331|IGL01075|10|20987025|T->A|0.56|Possibly damaging|MGI:87971|Ahi1|Abelson helper integration site 1 [Source:MGI Symbol;Acc:MGI:87971]|Heterozygous|Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology.|A|G|65|37.0|Non-synonymous|Line Propagating
5192332|IGL01075|3|93470316|D->V|||MGI:1918575|Tchhl1|trichohyalin-like 1 [Source:MGI Symbol;Acc:MGI:1918575]|Heterozygous||A|T|58|36.0|Non-synonymous|Line Propagating
5192333|IGL01075|11|69359965|D->G|1.0|Probably damaging|MGI:1344395|Chd3|chromodomain helicase DNA binding protein 3 [Source:MGI Symbol;Acc:MGI:1344395]|Heterozygous||T|C|56|35.0|Non-synonymous|Line Propagating
5192334|IGL01075|7|3297246|T->P|0.99|Probably damaging|MGI:1355332|Myadm|myeloid-associated differentiation marker [Source:MGI Symbol;Acc:MGI:1355332]|Heterozygous||A|C|56|36.0|Non-synonymous|Line Propagating
5192335|IGL01075|4|143811646|T->A|0.59|Possibly damaging|MGI:3650237|Gm13084|predicted gene 13084 [Source:MGI Symbol;Acc:MGI:3650237]|Heterozygous||T|C|49|37.0|Non-synonymous|Line Propagating
5192337|IGL01075|6|125192603|V->A|0.52|Possibly damaging|MGI:1913743|Mrpl51|mitochondrial ribosomal protein L51 [Source:MGI Symbol;Acc:MGI:1913743]|Heterozygous||T|C|23|38.0|Non-synonymous|Line Propagating
5192338|IGL01075|8|61124132|T->K|0.8|Possibly damaging|MGI:97303|Nek1|NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]|Heterozygous|Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.|C|A|18|39.5|Non-synonymous|Line Propagating
5192339|IGL01075|11|69657325|T->A|1.0|Probably damaging|MGI:1346040|Mpdu1|mannose-P-dolichol utilization defect 1 [Source:MGI Symbol;Acc:MGI:1346040]|Heterozygous||T|C|15|36.0|Non-synonymous|Line Propagating
5192340|IGL01075|7|37567890|S->R|1.0|Probably damaging|MGI:1926102|Zfp536|zinc finger protein 536 [Source:MGI Symbol;Acc:MGI:1926102]|Heterozygous||A|T|15|38.0|Non-synonymous|Line Propagating
5192931|IGL01077|10|22181320|L->S|1.0|Probably damaging|MGI:109431, MGI:2675273|Raet1e,raet1c|retinoic acid early transcript 1E [Source:MGI Symbol;Acc:MGI:2675273]|Heterozygous||T|C|330|39.0|Non-synonymous|Alive, Line Propagating
5192932|IGL01077|2|120446515|T->M|0.06|Benign|MGI:1923301|Ganc|glucosidase, alpha; neutral C [Source:MGI Symbol;Acc:MGI:1923301]|Heterozygous||C|T|130|39.0|Non-synonymous|Alive, Line Propagating
5192933|IGL01077|9|71546760|E->G||Unknown|MGI:5141967, MGI:2142908|Gcom1,myzap|GRINL1A complex locus [Source:MGI Symbol;Acc:MGI:5141967],myocardial zonula adherens protein [Source:MGI Symbol;Acc:MGI:2142908]|Heterozygous||T|C|100|37.0|Non-synonymous|Alive, Line Propagating
5192934|IGL01077|17|22852385|K->R|0.9|Possibly damaging|MGI:2445132|Zfp945|zinc finger protein 945 [Source:MGI Symbol;Acc:MGI:2445132]|Heterozygous||T|C|79|39.0|Non-synonymous|Alive, Line Propagating
5192935|IGL01077|5|136029203|M->K|0.97|Probably damaging|MGI:1921448|Dtx2|deltex 2 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1921448]|Heterozygous|Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development.|T|A|73|39.0|Non-synonymous|Alive, Line Propagating
5192936|IGL01077|3|93220206|S->T|0.87|Possibly damaging|MGI:3645678|Flg2|filaggrin family member 2 [Source:MGI Symbol;Acc:MGI:3645678]|Heterozygous||T|A|70|38.0|Non-synonymous|Alive, Line Propagating
5192937|IGL01077|11|96251768|H->Y||Unknown|MGI:2684899|Gm53|predicted gene 53 [Source:MGI Symbol;Acc:MGI:2684899]|Heterozygous||C|T|66|34.0|Non-synonymous|Alive, Line Propagating
5192938|IGL01077|13|32978066|D->N|0.27|Benign|MGI:894688|Serpinb6b|serine (or cysteine) peptidase inhibitor, clade B, member 6b [Source:MGI Symbol;Acc:MGI:894688]|Heterozygous||G|A|63|37.0|Non-synonymous|Alive, Line Propagating
5192939|IGL01077|18|20836978|T->I|0.07|Benign|MGI:2443008|Trappc8|trafficking protein particle complex 8 [Source:MGI Symbol;Acc:MGI:2443008]|Heterozygous||G|A|61|37.0|Non-synonymous|Alive, Line Propagating
5192940|IGL01077|4|58068760|I->F|0.06|Benign|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||T|A|58|36.0|Non-synonymous|Alive, Line Propagating
5192941|IGL01077|7|28323788|W->Stop||N/A|MGI:1202400|Supt5h|suppressor of Ty 5 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1202400]|Heterozygous||C|T|51|38.0|Non-synonymous|Alive, Line Propagating
5192942|IGL01077|X|103185316|D->G|0.03|Benign|MGI:106654, MGI:1922356|Nap1l2,4930519f16rik|RIKEN cDNA 4930519F16 gene [Source:MGI Symbol;Acc:MGI:1922356],nucleosome assembly protein 1-like 2 [Source:MGI Symbol;Acc:MGI:106654]|Heterozygous||T|C|51|38.0|Non-synonymous|Alive, Line Propagating
5192943|IGL01077|11|93597143|I->T|0.01|Benign|MGI:1919855|Car10|carbonic anhydrase 10 [Source:MGI Symbol;Acc:MGI:1919855]|Heterozygous||T|C|47|40.0|Non-synonymous|Alive, Line Propagating
5192944|IGL01077|5|48217443|Disrupted splicing|||MGI:1315205|Slit2|slit homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315205]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter.|A|G|47|38.0|Splice|Alive, Line Propagating
5192945|IGL01077|8|64070232|Y->C|||MGI:106923|Tll1|tolloid-like [Source:MGI Symbol;Acc:MGI:106923]|Heterozygous|Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta.|T|C|46|36.0|Non-synonymous|Alive, Line Propagating
5192946|IGL01077|17|34148613|A->S|0.89|Possibly damaging|MGI:95923|H2-dmb2|histocompatibility 2, class II, locus Mb2 [Source:MGI Symbol;Acc:MGI:95923]|Heterozygous||G|T|45|38.0|Non-synonymous|Alive, Line Propagating
5192948|IGL01077|3|90458362|D->A|1.0|Probably damaging|MGI:97371|Npr1|natriuretic peptide receptor 1 [Source:MGI Symbol;Acc:MGI:97371]|Heterozygous||T|G|39|35.0|Non-synonymous|Alive, Line Propagating
5192949|IGL01077|1|58057410|Disrupted splicing|||MGI:88035|Aox1|aldehyde oxidase 1 [Source:MGI Symbol;Acc:MGI:88035]|Heterozygous||A|T|30|39.0|Splice|Alive, Line Propagating
5192950|IGL01077|17|34147720|Y->C|1.0|Probably damaging|MGI:95923|H2-dmb2|histocompatibility 2, class II, locus Mb2 [Source:MGI Symbol;Acc:MGI:95923]|Heterozygous||A|G|28|39.0|Non-synonymous|Alive, Line Propagating
5192951|IGL01077|9|104231021|E->G|||MGI:2676368|Dnajc13|DnaJ (Hsp40) homolog, subfamily C, member 13 [Source:MGI Symbol;Acc:MGI:2676368]|Heterozygous||T|C|27|40.0|Non-synonymous|Alive, Line Propagating
5192952|IGL01077|X|73900093|Disrupted splicing|||MGI:2159577|Arhgap4|Rho GTPase activating protein 4 [Source:MGI Symbol;Acc:MGI:2159577]|Heterozygous||A|G|27|37.0|Splice|Alive, Line Propagating
5192953|IGL01077|11|87731892|M->I|0.06|Benign|MGI:2442609|Rnf43|ring finger protein 43 [Source:MGI Symbol;Acc:MGI:2442609]|Heterozygous||G|T|22|36.0|Non-synonymous|Alive, Line Propagating
5192954|IGL01077|13|112914489|I->K|1.0|Probably damaging|MGI:1919448|Skiv2l2|superkiller viralicidic activity 2-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919448]|Heterozygous||A|T|18|40.0|Non-synonymous|Alive, Line Propagating
5192955|IGL01077|8|110029965|Y->F||Benign|MGI:1349479|Chst4|carbohydrate (chondroitin 6/keratan) sulfotransferase 4 [Source:MGI Symbol;Acc:MGI:1349479]|Heterozygous|Mice homozygous for disruptions in this gene do not accumulate lymphocytes in peripheral lymph nodes to as great an extent as normal. The animals are phenotypically normal otherwise.|T|A|18|37.0|Non-synonymous|Alive, Line Propagating
5192956|IGL01077|X|41588492|V->A|0.77|Possibly damaging|MGI:95810|Gria3|glutamate receptor, ionotropic, AMPA3 (alpha 3) [Source:MGI Symbol;Acc:MGI:95810]|Heterozygous|Male mice hemizygous for one allele display reduced fertility and enhanced long term potentiation. Male mice hemizygous for a second allele display decreased thermal nociception, resistance to drug induced seizures and a decreased startle reflex; and homozygous female mice have decreased body weight|T|C|17|38.0|Non-synonymous|Alive, Line Propagating
5192957|IGL01077|10|50649317|Disrupted splicing|||MGI:1925237|Ascc3|activating signal cointegrator 1 complex subunit 3 [Source:MGI Symbol;Acc:MGI:1925237]|Heterozygous||T|G|14|40.0|Splice|Alive, Line Propagating
5192959|IGL01077|2|155962134|V->M|1.0|Probably damaging|MGI:108084|Cep250|centrosomal protein 250 [Source:MGI Symbol;Acc:MGI:108084]|Heterozygous||G|A|12|38.0|Non-synonymous|Alive, Line Propagating
5193544|IGL01078|7|107990943|S->T|0.01|Benign|MGI:3030311|Olfr477|olfactory receptor 477 [Source:MGI Symbol;Acc:MGI:3030311]|Heterozygous||T|A|33|38.0|Non-synonymous|Line Propagating
5193545|IGL01078|4|11165369|V->D|1.0|Probably damaging|MGI:1926609|Trp53inp1|transformation related protein 53 inducible nuclear protein 1 [Source:MGI Symbol;Acc:MGI:1926609]|Heterozygous||T|A|20|38.5|Non-synonymous|Line Propagating
5193546|IGL01078|X|56196653|E->G|0.93|Possibly damaging|MGI:2685619|Gm773|predicted gene 773 [Source:MGI Symbol;Acc:MGI:2685619]|Heterozygous||T|C|18|39.5|Non-synonymous|Line Propagating
5193547|IGL01078|2|20806531|R->Stop||N/A|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||C|T|16|40.0|Non-synonymous|Line Propagating
5193548|IGL01078|2|119216500|C->Stop||N/A|MGI:1919258|Zfyve19|zinc finger, FYVE domain containing 19 [Source:MGI Symbol;Acc:MGI:1919258]|Heterozygous||T|A|16|37.5|Non-synonymous|Line Propagating
5193549|IGL01078|8|84140265|V->M|0.93|Possibly damaging|MGI:2384831|Cc2d1a|coiled-coil and C2 domain containing 1A [Source:MGI Symbol;Acc:MGI:2384831]|Heterozygous||C|T|14|35.0|Non-synonymous|Line Propagating
5193550|IGL01078|16|94133160|I->T|0.84|Possibly damaging|MGI:894646|Hlcs|holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) [Source:MGI Symbol;Acc:MGI:894646]|Heterozygous||A|G|12|39.0|Non-synonymous|Line Propagating
5193551|IGL01078|1|194786693|Disrupted splicing|||MGI:107684|Plxna2|plexin A2 [Source:MGI Symbol;Acc:MGI:107684]|Heterozygous|Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance.|T|A|11|38.0|Splice|Line Propagating
5193552|IGL01078|4|87880060|Disrupted splicing|||MGI:1917372|Mllt3|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 [Source:MGI Symbol;Acc:MGI:1917372]|Heterozygous|About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra.|A|G|11|37.0|Splice|Line Propagating
5193553|IGL01078|8|105978228|A->V|1.0|Probably damaging|MGI:1919104|Dpep3|dipeptidase 3 [Source:MGI Symbol;Acc:MGI:1919104]|Heterozygous||G|A|10|37.5|Non-synonymous|Line Propagating
5194069|IGL01079|12|87795808|E->D|||MGI:3721634, MGI:3527596, MGI:3042919, MGI:3527595, MGI:3527597, MGI:5439387, MGI:4361843, MGI:3525634|Rp24-376e16.2||Heterozygous||A|T|69|39.0|Non-synonymous|Line Propagating
5194070|IGL01079|10|129647374|L->R|0.86|Possibly damaging|MGI:3030633|Olfr799|olfactory receptor 799 [Source:MGI Symbol;Acc:MGI:3030633]|Heterozygous||T|G|49|40.0|Non-synonymous|Line Propagating
5194071|IGL01079|7|103906462|I->V||Benign|MGI:1341910|Olfr65|olfactory receptor 65 [Source:MGI Symbol;Acc:MGI:1341910]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
5194072|IGL01079|10|62879473|T->I|0.01|Benign|MGI:1098693|Tet1|tet methylcytosine dioxygenase 1 [Source:MGI Symbol;Acc:MGI:1098693]|Heterozygous||G|A|26|37.0|Non-synonymous|Line Propagating
5194073|IGL01079|2|88274716|F->C|1.0|Probably damaging|MGI:3031007|Olfr1173|olfactory receptor 1173 [Source:MGI Symbol;Acc:MGI:3031007]|Heterozygous||A|C|21|38.0|Non-synonymous|Line Propagating
5194074|IGL01079|1|118652882|V->A|0.99|Probably damaging|MGI:2444691|Tfcp2l1|transcription factor CP2-like 1 [Source:MGI Symbol;Acc:MGI:2444691]|Heterozygous||T|C|20|35.0|Non-synonymous|Line Propagating
5194075|IGL01079|12|76562278|I->L|0.96|Probably damaging|MGI:2388284|Plekhg3|pleckstrin homology domain containing, family G (with RhoGef domain) member 3 [Source:MGI Symbol;Acc:MGI:2388284]|Heterozygous||A|T|19|39.0|Non-synonymous|Line Propagating
5194076|IGL01079|7|110945967|A->T|||MGI:1338023|Mrvi1|MRV integration site 1 [Source:MGI Symbol;Acc:MGI:1338023]|Heterozygous|Mice homozygous for a knock-out allele show lower blood pressure, a slightly reduced heart rate, and failure of cGMP-mediated relaxation of receptor-triggered smooth muscle contraction; 50% of mice die prematurely with an enlarged stomach, a dilated cecum, pyloric stenosis and impaired GI motility.|C|T|19|36.0|Non-synonymous|Line Propagating
5194077|IGL01079|5|16370648|S->T|0.02|Benign|MGI:88295|Cacna2d1|calcium channel, voltage-dependent, alpha2/delta subunit 1 [Source:MGI Symbol;Acc:MGI:88295]|Heterozygous|Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.|T|A|16|37.5|Non-synonymous|Line Propagating
5194078|IGL01079|1|131265647|D->E|0.04|Benign|MGI:1929612|Ikbke|inhibitor of kappaB kinase epsilon [Source:MGI Symbol;Acc:MGI:1929612]|Heterozygous|Homozygous null mice are viable and fertile.|A|T|14|39.0|Non-synonymous|Line Propagating
5194079|IGL01079|7|28139778|S->C|0.88|Possibly damaging|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||A|T|14|36.0|Non-synonymous|Line Propagating
5194080|IGL01079|11|3998564|E->G|1.0|Probably damaging|MGI:1858277|Gal3st1|galactose-3-O-sulfotransferase 1 [Source:MGI Symbol;Acc:MGI:1858277]|Heterozygous|Homozygotes for a targeted null mutation exhibit hindlimb weakness and progressive ataxia beginning at six weeks of age. Homozygous males exhibit sterility with a block in spermatogenesis prior to the first meiotic division.|A|G|13|37.0|Non-synonymous|Line Propagating
5194081|IGL01079|10|62072084|V->A|||MGI:3643173|Gm5424|predicted gene 5424 [Source:MGI Symbol;Acc:MGI:3643173]|Heterozygous||T|C|12|39.0|Non-synonymous|Line Propagating
5194082|IGL01079|10|78426945|S->P|0.03|Benign|MGI:109514|Cstb|cystatin B [Source:MGI Symbol;Acc:MGI:109514]|Heterozygous|Mice homozygous for a null mutation provide a model for Unverricht-Lundborg disease (EPM1) by displaying progressive ataxia and myoclonic seizures. Notably, homozygous null mice exhibit apoptosis in cerebellar granule cells, implying that a similar mechanism of cell loss may occur in human EPM1.|T|C|10|39.5|Non-synonymous|Line Propagating
5194083|IGL01079|X|75286618|D->V|0.02|Benign|MGI:88383|F8|coagulation factor VIII [Source:MGI Symbol;Acc:MGI:88383]|Heterozygous|Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.|T|A|10|37.0|Non-synonymous|Line Propagating
5194622|IGL01080|16|19566208|V->E|1.0|Probably damaging|MGI:3030003|Olfr169|olfactory receptor 169 [Source:MGI Symbol;Acc:MGI:3030003]|Heterozygous||A|T|214|39.0|Non-synonymous|Line Propagating
5194623|IGL01080|14|42437014|D->G|0.99|Probably damaging|MGI:3645411|Gm8005|predicted gene 8005 [Source:MGI Symbol;Acc:MGI:3645411]|Heterozygous||T|C|208|38.0|Non-synonymous|Line Propagating
5194624|IGL01080|2|164638486|W->R|0.91|Possibly damaging|MGI:2670994|Wfdc16|WAP four-disulfide core domain 16 [Source:MGI Symbol;Acc:MGI:2670994]|Heterozygous||A|T|114|39.0|Non-synonymous|Line Propagating
5194625|IGL01080|9|44809092|D->G||Unknown|MGI:96995|Mll1|myeloid/lymphoid or mixed-lineage leukemia 1 [Source:MGI Symbol;Acc:MGI:96995]|Heterozygous|Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.|T|C|107|37.0|Non-synonymous|Line Propagating
5194626|IGL01080|6|39021181|L->I|0.98|Probably damaging|MGI:98497|Tbxas1|thromboxane A synthase 1, platelet [Source:MGI Symbol;Acc:MGI:98497]|Heterozygous|Homozygous null mice display increased bleeding time and decreased platelet response to arachidonic acid.|T|A|97|37.0|Non-synonymous|Line Propagating
5194627|IGL01080|6|42246626|D->V|0.3|Benign|MGI:1923513|Gstk1|glutathione S-transferase kappa 1 [Source:MGI Symbol;Acc:MGI:1923513]|Heterozygous||A|T|92|37.0|Non-synonymous|Line Propagating
5194628|IGL01080|10|19011655|K->E|0.05|Benign|MGI:1196377|Tnfaip3|tumor necrosis factor, alpha-induced protein 3 [Source:MGI Symbol;Acc:MGI:1196377]|Heterozygous|Homozygous null mice display partial postnatal lethality, runting, and severe inflammation in the liver, kidneys, joints, intestines, and bone marrow.|T|C|83|38.0|Non-synonymous|Line Propagating
5194629|IGL01080|14|59393199|T->I|0.04|Benign|MGI:3648476|Gm6907|predicted gene 6907 [Source:MGI Symbol;Acc:MGI:3648476]|Heterozygous||G|A|81|39.0|Non-synonymous|Line Propagating
5194630|IGL01080|2|158757172|T->A|0.85|Possibly damaging|MGI:2151841|Ppp1r16b|protein phosphatase 1, regulatory (inhibitor) subunit 16B [Source:MGI Symbol;Acc:MGI:2151841]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis.|A|G|81|37.0|Non-synonymous|Line Propagating
5194631|IGL01080|4|108237416|L->Q|1.0|Probably damaging|MGI:2685277|Zyg11b|zyg-ll homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:2685277]|Heterozygous||A|T|77|39.0|Non-synonymous|Line Propagating
5194632|IGL01080|16|46049693|E->G|0.6|Possibly damaging|MGI:1934368|Cd96|CD96 antigen [Source:MGI Symbol;Acc:MGI:1934368]|Heterozygous||T|C|71|38.0|Non-synonymous|Line Propagating
5194633|IGL01080|8|106237214|Disrupted splicing|||MGI:2384879|Prmt7|protein arginine N-methyltransferase 7 [Source:MGI Symbol;Acc:MGI:2384879]|Heterozygous||T|G|55|38.0|Splice|Line Propagating
5194634|IGL01080|13|93703778|Disrupted splicing|||MGI:1921379|Dmgdh|dimethylglycine dehydrogenase precursor [Source:MGI Symbol;Acc:MGI:1921379]|Heterozygous||T|C|52|39.0|Splice|Line Propagating
5194635|IGL01080|7|44960909|D->G|0.44|Possibly damaging|MGI:2446526|Cpt1c|carnitine palmitoyltransferase 1c [Source:MGI Symbol;Acc:MGI:2446526]|Heterozygous|Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance.|T|C|52|35.0|Non-synonymous|Line Propagating
5194636|IGL01080|3|93279599|K->N||Unknown|MGI:95553|Flg|filaggrin [Source:MGI Symbol;Acc:MGI:95553]|Heterozygous|Mutations in this gene produce abnormalities in the skin of the ear,tail and dorsal trunk.|A|T|51|39.0|Non-synonymous|Line Propagating
5194637|IGL01080|4|135966078|Y->H|1.0|Probably damaging|MGI:1921496|Gale|galactose-4-epimerase, UDP [Source:MGI Symbol;Acc:MGI:1921496]|Heterozygous||T|C|50|39.0|Non-synonymous|Line Propagating
5194638|IGL01080|5|8934258|R->W|0.99|Probably damaging|MGI:97569|Abcb4|ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.|A|T|46|39.0|Non-synonymous|Line Propagating
5194640|IGL01080|2|23146148|S->P|1.0|Probably damaging|MGI:1914371|Mastl|microtubule associated serine/threonine kinase-like [Source:MGI Symbol;Acc:MGI:1914371]|Heterozygous||A|G|37|38.0|Non-synonymous|Line Propagating
5194641|IGL01080|11|107877928|F->L|0.99|Probably damaging|MGI:2157946|Cacng5|calcium channel, voltage-dependent, gamma subunit 5 [Source:MGI Symbol;Acc:MGI:2157946]|Heterozygous||A|T|35|39.0|Non-synonymous|Line Propagating
5194642|IGL01080|15|47881403|I->V|0.02|Benign|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||T|C|34|40.0|Non-synonymous|Line Propagating
5194644|IGL01080|3|90385460|V->E|||MGI:1347358|Slc27a3|solute carrier family 27 (fatty acid transporter), member 3 [Source:MGI Symbol;Acc:MGI:1347358]|Heterozygous||A|T|24|38.0|Non-synonymous|Line Propagating
5194645|IGL01080|7|30417416|Disrupted splicing|||MGI:1277211|Tyrobp|TYRO protein tyrosine kinase binding protein [Source:MGI Symbol;Acc:MGI:1277211]|Heterozygous|Homozygotes for targeted null mutations exhibit osteopetrosis, hypomyelination (especially of the thalamus), synaptic degeneration, and impaired oligodendrocyte, NK, and dendritic cell function.|T|C|23|37.0|Splice|Line Propagating
5194646|IGL01080|11|53706068|T->A|1.0|Probably damaging|MGI:109292|Rad50|RAD50 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:109292]|Heterozygous|Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death.|T|C|13|40.0|Non-synonymous|Line Propagating
5194647|IGL01080|15|81705752|Disrupted splicing|||MGI:103071|Rangap1|RAN GTPase activating protein 1 [Source:MGI Symbol;Acc:MGI:103071]|Heterozygous|Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired.|C|T|13|37.0|Splice|Line Propagating
5195201|IGL01081|12|114708638|Disrupted splicing|||MGI:3581248, MGI:3052201, MGI:4361843|Ac162906.3||Heterozygous||T|C|231|38.0|Splice|Line Propagating
5195202|IGL01081|3|117686649|Disrupted splicing|||MGI:1923019|4833424o15rik|RIKEN cDNA 4833424O15 gene [Source:MGI Symbol;Acc:MGI:1923019]|Heterozygous||T|A|229|39.0|Splice|Line Propagating
5195203|IGL01081|11|78528303|P->S|1.0|Probably damaging|MGI:104961|Tnfaip1|tumor necrosis factor, alpha-induced protein 1 (endothelial) [Source:MGI Symbol;Acc:MGI:104961]|Heterozygous||G|A|166|38.0|Non-synonymous|Line Propagating
5195204|IGL01081|14|52451027|T->A|0.02|Benign|MGI:3031343|Olfr1509|olfactory receptor 1509 [Source:MGI Symbol;Acc:MGI:3031343]|Heterozygous||A|G|165|38.0|Non-synonymous|Line Propagating
5195205|IGL01081|10|121267414|R->L|1.0|Probably damaging|MGI:1921944|Tbc1d30|TBC1 domain family, member 30 [Source:MGI Symbol;Acc:MGI:1921944]|Heterozygous||C|A|154|37.0|Non-synonymous|Line Propagating
5195206|IGL01081|17|20687904|S->P|0.26|Benign|MGI:2159616|Vmn1r226|vomeronasal 1 receptor 226 [Source:MGI Symbol;Acc:MGI:2159616]|Heterozygous||T|C|153|38.0|Non-synonymous|Line Propagating
5195207|IGL01081|11|103732010|R->K|0.99|Probably damaging|MGI:1197020|Wnt9b|wingless-type MMTV integration site 9B [Source:MGI Symbol;Acc:MGI:1197020]|Heterozygous|Homozygous null mice display neonatal lethality, disrupted ureteric bud branching, impaired Mullerian duct formation, and incompletely penetrant cleft lip and palate. In mice with alleles that decrease expression kidneys are smaller with fewer mature nephrons.|C|T|146|37.0|Non-synonymous|Line Propagating
5195208|IGL01081|12|55566135|I->L|0.02|Benign|MGI:1931052|Aldoart2|aldolase 1 A retrogene 2 [Source:MGI Symbol;Acc:MGI:1931052]|Heterozygous||A|C|145|38.0|Non-synonymous|Line Propagating
5195209|IGL01081|7|26449829|E->G|0.02|Benign|MGI:2443697|Nlrp4a|NLR family, pyrin domain containing 4A [Source:MGI Symbol;Acc:MGI:2443697]|Heterozygous||A|G|140|39.0|Non-synonymous|Line Propagating
5195210|IGL01081|15|39118806|K->E|1.0|Probably damaging|MGI:2684929|Dcaf13|DDB1 and CUL4 associated factor 13 [Source:MGI Symbol;Acc:MGI:2684929]|Heterozygous||A|G|137|38.0|Non-synonymous|Line Propagating
5195211|IGL01081|13|21347015|L->R|0.98|Probably damaging|MGI:3031201|Olfr1367|olfactory receptor 1367 [Source:MGI Symbol;Acc:MGI:3031201]|Heterozygous||T|G|110|38.0|Non-synonymous|Line Propagating
5195212|IGL01081|7|71350548|P->S||Unknown|MGI:3642770|Gm10295|predicted gene 10295 [Source:MGI Symbol;Acc:MGI:3642770]|Heterozygous||G|A|110|38.0|Non-synonymous|Line Propagating
5195213|IGL01081|8|43519938|I->V||Benign|MGI:3588304|Adam26b|a disintegrin and metallopeptidase domain 26B [Source:MGI Symbol;Acc:MGI:3588304]|Heterozygous||T|C|108|39.0|Non-synonymous|Line Propagating
5195214|IGL01081|3|96189696|I->F|0.54|Possibly damaging|MGI:1927139|Sv2a|synaptic vesicle glycoprotein 2 a [Source:MGI Symbol;Acc:MGI:1927139]|Heterozygous|Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age.|A|T|105|35.0|Non-synonymous|Line Propagating
5195215|IGL01081|2|86146611|G->D|1.0|Probably damaging|MGI:3030874|Olfr1040|olfactory receptor 1040 [Source:MGI Symbol;Acc:MGI:3030874]|Heterozygous||C|T|96|39.5|Non-synonymous|Line Propagating
5195216|IGL01081|14|57286364|Disrupted splicing|||MGI:1915881|Cryl1|crystallin, lambda 1 [Source:MGI Symbol;Acc:MGI:1915881]|Heterozygous||C|T|91|38.0|Splice|Line Propagating
5195217|IGL01081|6|31528704|T->A|0.57|Possibly damaging|MGI:1351317|Podxl|podocalyxin-like [Source:MGI Symbol;Acc:MGI:1351317]|Heterozygous|Mice homozygous for disruptions in this gene die within 24 hours of birth.|T|C|90|36.0|Non-synonymous|Line Propagating
5195218|IGL01081|7|26558094|N->I|0.12|Benign|MGI:2675292|Nlrp9a|NLR family, pyrin domain containing 9A [Source:MGI Symbol;Acc:MGI:2675292]|Heterozygous||A|T|88|38.5|Non-synonymous|Line Propagating
5195219|IGL01081|7|39410647|Disrupted splicing|||MGI:3647631|Gm5114|predicted gene 5114 [Source:MGI Symbol;Acc:MGI:3647631]|Heterozygous||G|A|87|38.0|Splice|Line Propagating
5195220|IGL01081|18|44850659|H->R|0.82|Possibly damaging|MGI:2448561|Ythdc2|YTH domain containing 2 [Source:MGI Symbol;Acc:MGI:2448561]|Heterozygous||A|G|86|38.0|Non-synonymous|Line Propagating
5195221|IGL01081|9|21280427|L->Q|1.0|Probably damaging|MGI:2384899|Kri1|KRI1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2384899]|Heterozygous||A|T|85|38.0|Non-synonymous|Line Propagating
5195222|IGL01081|10|56115925|A->T|||MGI:2442827, MGI:1920640|Msl3l2,d630037f22rik|male-specific lethal 3-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1920640],RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]|Heterozygous|NO_PHENOTYPE,Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.|G|A|81|36.0|Non-synonymous|Line Propagating
5195223|IGL01081|19|10053002|I->T||Benign|MGI:1928740|Fads3|fatty acid desaturase 3 [Source:MGI Symbol;Acc:MGI:1928740]|Heterozygous||T|C|78|37.0|Non-synonymous|Line Propagating
5195224|IGL01081|4|40197576|Q->R||Benign|MGI:87879|Aco1|aconitase 1 [Source:MGI Symbol;Acc:MGI:87879]|Heterozygous|Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities.|A|G|73|37.0|Non-synonymous|Line Propagating
5195225|IGL01081|6|6867068|S->A|0.94|Possibly damaging|MGI:101927|Dlx6|distal-less homeobox 6 [Source:MGI Symbol;Acc:MGI:101927]|Heterozygous|Homozygotes for targeted null mutations at both Dlx5 and Dlx6 exhibit bilateral ectrodactyly, homeotic transformation of the lower jaw into an upper jaw, and perinatal lethality.|T|G|73|38.0|Non-synonymous|Line Propagating
5195226|IGL01081|9|45928707|D->G||Benign|MGI:107421|Pcsk7|proprotein convertase subtilisin/kexin type 7 [Source:MGI Symbol;Acc:MGI:107421]|Heterozygous||A|G|69|37.0|Non-synonymous|Line Propagating
5195227|IGL01081|1|67206824|V->A|1.0|Probably damaging|MGI:891996|Cps1|carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]|Heterozygous|Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.|T|C|68|38.5|Non-synonymous|Line Propagating
5195228|IGL01081|17|40811287|S->P||Benign|MGI:1202713|Rhag|Rhesus blood group-associated A glycoprotein [Source:MGI Symbol;Acc:MGI:1202713]|Heterozygous||T|C|64|37.0|Non-synonymous|Line Propagating
5195229|IGL01081|3|86141778|D->G|0.97|Probably damaging|MGI:1202063|Rps3a|ribosomal protein S3A [Source:MGI Symbol;Acc:MGI:1202063]|Heterozygous||T|C|61|38.0|Non-synonymous|Line Propagating
5195230|IGL01081|7|30190140|S->R||Benign|MGI:88266|Capns1|calpain, small subunit 1 [Source:MGI Symbol;Acc:MGI:88266]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrahging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver.|G|T|61|37.0|Non-synonymous|Line Propagating
5195231|IGL01081|7|137225896|Disrupted splicing|||MGI:894289|Ebf3|early B cell factor 3 [Source:MGI Symbol;Acc:MGI:894289]|Heterozygous|Homozygous mutant mice die perinatally and exhibit impaired olfactory neuron projection.|C|A|59|38.0|Splice|Line Propagating
5195232|IGL01081|18|20589942|Disrupted splicing|||MGI:1196466|Dsg2|desmoglein 2 [Source:MGI Symbol;Acc:MGI:1196466]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance.|C|T|58|39.0|Splice|Line Propagating
5195233|IGL01081|13|27065041|N->K|0.47|Possibly damaging|MGI:97762|Prl|prolactin [Source:MGI Symbol;Acc:MGI:97762]|Heterozygous|Homozygous null female mice have irregular oestrus cycles and are infertile. Defects of the pituitary gland include hyperplasia, which progresses to adenoma, and impaired secretion.|C|A|57|40.0|Non-synonymous|Line Propagating
5195234|IGL01081|2|131936420|Disrupted splicing|||MGI:97769|Prnp|prion protein [Source:MGI Symbol;Acc:MGI:97769]|Heterozygous|Mutations at this locus affect resistance to scrapie infection and spongiform encephalopathy and/or alter scrapie incubation time. Homozygous mutants also show impaired locomotor coordination and reduced mitochondria numbers with unusual morphology.|A|T|56|39.0|Splice|Line Propagating
5195235|IGL01081|9|123702273|D->G|0.07|Benign|MGI:1934860|Lztfl1|leucine zipper transcription factor-like 1 [Source:MGI Symbol;Acc:MGI:1934860]|Heterozygous||T|C|56|38.0|Non-synonymous|Line Propagating
5195236|IGL01081|16|32624828|Disrupted splicing|||MGI:98822|Tfrc|transferrin receptor [Source:MGI Symbol;Acc:MGI:98822]|Heterozygous|Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency.|T|A|55|39.0|Splice|Line Propagating
5195237|IGL01081|9|44514310|Disrupted splicing|||MGI:103567|Cxcr5|chemokine (C-X-C motif) receptor 5 [Source:MGI Symbol;Acc:MGI:103567]|Heterozygous|Homozygous null mutants lack inguinal lymph nodes, have a few abnormal or no Peyer's patches, morphologically altered primary lymphoid follicles and no functional germinal centers in their spleen.|A|G|50|36.5|Splice|Line Propagating
5195238|IGL01081|5|87486596|T->A|1.0|Probably damaging|MGI:2149905, MGI:3576095|Ugt2a2,ugt2a1|UDP glucuronosyltransferase 2 family, polypeptide A1 [Source:MGI Symbol;Acc:MGI:2149905]|Heterozygous||T|C|49|37.0|Non-synonymous|Line Propagating
5195239|IGL01081|9|114720597|S->T||Benign|MGI:2135610|Dync1li1|dynein cytoplasmic 1 light intermediate chain 1 [Source:MGI Symbol;Acc:MGI:2135610]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit increased anxiety-related response, increased dendrite length, increased neuron migration, and decreased lysosome trafficking.|T|A|48|35.5|Non-synonymous|Line Propagating
5195240|IGL01081|11|3688149|N->K|0.96|Probably damaging|MGI:1921772|Morc2a|microrchidia 2A [Source:MGI Symbol;Acc:MGI:1921772]|Heterozygous||T|A|46|35.0|Non-synonymous|Line Propagating
5195241|IGL01081|6|136702739|T->M|1.0|Probably damaging|MGI:106903|Gucy2c|guanylate cyclase 2c [Source:MGI Symbol;Acc:MGI:106903]|Heterozygous|Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins.|G|A|45|39.0|Non-synonymous|Line Propagating
5195242|IGL01081|9|107928982|Q->L|0.72|Possibly damaging|MGI:1914972|Actl11|actin-like 11 [Source:MGI Symbol;Acc:MGI:1914972]|Heterozygous||A|T|45|38.0|Non-synonymous|Line Propagating
5195243|IGL01081|5|110337240|C->G||Unknown|MGI:1196391|Pole|polymerase (DNA directed), epsilon [Source:MGI Symbol;Acc:MGI:1196391]|Heterozygous|Mice homozygous for a null allele exhibit increased incidence of tumors and premature death.|T|G|43|38.0|Non-synonymous|Line Propagating
5195244|IGL01081|10|29347860|D->G|0.81|Possibly damaging|MGI:1915281|Rnf146|ring finger protein 146 [Source:MGI Symbol;Acc:MGI:1915281]|Heterozygous||T|C|41|37.0|Non-synonymous|Line Propagating
5195245|IGL01081|2|150409347|E->Stop||N/A|MGI:3651999|Zfp442|zinc finger protein 442 [Source:MGI Symbol;Acc:MGI:3651999]|Heterozygous||C|A|40|40.0|Non-synonymous|Line Propagating
5195246|IGL01081|9|26990594|L->P|1.0|Probably damaging|MGI:1914198|Acad8|acyl-Coenzyme A dehydrogenase family, member 8 [Source:MGI Symbol;Acc:MGI:1914198]|Heterozygous||A|G|26|34.0|Non-synonymous|Line Propagating
5195247|IGL01081|2|6100338|Stop->R||N/A|MGI:2442238|5430407p10rik|RIKEN cDNA 5430407P10 gene [Source:MGI Symbol;Acc:MGI:2442238]|Heterozygous||A|G|23|36.0|Non-synonymous|Line Propagating
5195792|IGL01082|17|37850623|S->R||Benign|MGI:2177509|Olfr126|olfactory receptor 126 [Source:MGI Symbol;Acc:MGI:2177509]|Heterozygous||T|A|295|38.0|Non-synonymous|Line Propagating
5195793|IGL01082|10|21152944|V->A|0.93|Possibly damaging|MGI:97249|Myb|myeloblastosis oncogene [Source:MGI Symbol;Acc:MGI:97249]|Heterozygous|Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected.|A|G|176|36.0|Non-synonymous|Line Propagating
5195794|IGL01082|1|63164817|E->G|0.24|Benign|MGI:2443241|Ndufs1|NADH dehydrogenase (ubiquinone) Fe-S protein 1 [Source:MGI Symbol;Acc:MGI:2443241]|Heterozygous||T|C|158|39.0|Non-synonymous|Line Propagating
5195795|IGL01082|13|92575521|K->T|0.61|Possibly damaging|MGI:1930801|Spz1|spermatogenic leucine zipper 1 [Source:MGI Symbol;Acc:MGI:1930801]|Heterozygous||T|G|149|39.0|Non-synonymous|Line Propagating
5195796|IGL01082|1|136845468|A->S|0.04|Benign|MGI:1346834|Nr5a2|nuclear receptor subfamily 5, group A, member 2 [Source:MGI Symbol;Acc:MGI:1346834]|Heterozygous|Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length.|C|A|146|37.0|Non-synonymous|Line Propagating
5195797|IGL01082|12|81990598|E->K|1.0|Probably damaging|MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||G|A|122|38.0|Non-synonymous|Line Propagating
5195798|IGL01082|6|18226103|V->A|0.84|Possibly damaging|MGI:88388|Cftr|cystic fibrosis transmembrane conductance regulator [Source:MGI Symbol;Acc:MGI:88388]|Heterozygous|Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.|T|C|121|38.0|Non-synonymous|Line Propagating
5195799|IGL01082|1|85670020|V->A|0.44|Possibly damaging|MGI:109561|Sp100|nuclear antigen Sp100 [Source:MGI Symbol;Acc:MGI:109561]|Heterozygous||T|C|117|38.0|Non-synonymous|Line Propagating
5195800|IGL01082|2|88795293|F->L||Benign|MGI:3031035|Olfr1201|olfactory receptor 1201 [Source:MGI Symbol;Acc:MGI:3031035]|Heterozygous||T|C|116|39.5|Non-synonymous|Line Propagating
5195801|IGL01082|16|17141992|S->P|1.0|Probably damaging|MGI:1924122|Ccdc116|coiled-coil domain containing 116 [Source:MGI Symbol;Acc:MGI:1924122]|Heterozygous||A|G|106|36.0|Non-synonymous|Line Propagating
5195802|IGL01082|4|5799461|A->V|0.6|Possibly damaging|MGI:1916593|Fam110b|family with sequence similarity 110, member B [Source:MGI Symbol;Acc:MGI:1916593]|Heterozygous||C|T|103|38.0|Non-synonymous|Line Propagating
5195803|IGL01082|10|40573864|T->A|0.06|Benign|MGI:1918090|Slc22a16|solute carrier family 22 (organic cation transporter), member 16 [Source:MGI Symbol;Acc:MGI:1918090]|Heterozygous||A|G|92|37.0|Non-synonymous|Line Propagating
5195804|IGL01082|5|117334905|I->V||Benign|MGI:2448533|Vsig10|V-set and immunoglobulin domain containing 10 [Source:MGI Symbol;Acc:MGI:2448533]|Heterozygous||A|G|90|37.0|Non-synonymous|Line Propagating
5195805|IGL01082|2|125569545|Disrupted splicing|||MGI:2139083|Cep152|centrosomal protein 152 [Source:MGI Symbol;Acc:MGI:2139083]|Heterozygous||A|T|85|36.0|Splice|Line Propagating
5195806|IGL01082|15|101798937|Disrupted splicing|||MGI:3607712|Krt73|keratin 73 [Source:MGI Symbol;Acc:MGI:3607712]|Heterozygous||T|C|76|37.5|Splice|Line Propagating
5195807|IGL01082|15|77959743|T->A|0.99|Probably damaging|MGI:1933181|Eif3d|eukaryotic translation initiation factor 3, subunit D [Source:MGI Symbol;Acc:MGI:1933181]|Heterozygous||T|C|72|38.0|Non-synonymous|Line Propagating
5195808|IGL01082|5|65375940|V->I|0.93|Possibly damaging|MGI:1932466|Klb|klotho beta [Source:MGI Symbol;Acc:MGI:1932466]|Heterozygous|Homozygous null mice display increased bile acid synthesis and excretion, resistance to gallstone formation, and slightly decreased body weight.|G|A|67|38.0|Non-synonymous|Line Propagating
5195809|IGL01082|16|29618115|Disrupted splicing|||MGI:1921393|Opa1|optic atrophy 1 [Source:MGI Symbol;Acc:MGI:1921393]|Heterozygous|Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal response to a new environment and decreased vision.|A|T|64|40.0|Splice|Line Propagating
5195810|IGL01082|6|88887877|V->A|0.04|Benign|MGI:96936|Mcm2|minichromosome maintenance deficient 2 mitotin (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105380]|Heterozygous|Mice homozygous for non functional alleles at this locus die prematurely. There is an increased tumor incidence and abnormalities in a variety of systems in mice as they become moribund.|A|G|64|34.0|Non-synonymous|Line Propagating
5195811|IGL01082|18|20043792|N->K|1.0|Probably damaging|MGI:103221|Dsc2|desmocollin 2 [Source:MGI Symbol;Acc:MGI:103221]|Heterozygous||A|T|62|40.0|Non-synonymous|Line Propagating
5195812|IGL01082|19|4189027|Y->H|1.0|Probably damaging|MGI:1922072|Tbc1d10c|TBC1 domain family, member 10c [Source:MGI Symbol;Acc:MGI:1922072]|Heterozygous||A|G|59|37.0|Non-synonymous|Line Propagating
5195813|IGL01082|17|25048455|V->E|0.89|Possibly damaging|MGI:2146906|Ift140|intraflagellar transport 140 [Source:MGI Symbol;Acc:MGI:2146906]|Heterozygous||T|A|54|38.0|Non-synonymous|Line Propagating
5195814|IGL01082|1|71314114|S->F|1.0|Probably damaging|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|G|A|48|39.0|Non-synonymous|Line Propagating
5195815|IGL01082|4|118397624|S->P|0.53|Possibly damaging|MGI:3033336|Szt2|seizure threshold 2 [Source:MGI Symbol;Acc:MGI:3033336]|Heterozygous||A|G|47|38.0|Non-synonymous|Line Propagating
5195816|IGL01082|12|91811908|V->A|0.1|Benign|MGI:1329016|Sel1l|sel-1 suppressor of lin-12-like (C. elegans) [Source:MGI Symbol;Acc:MGI:1329016]|Heterozygous|Mice homozygous for a gene trapped allele exhibit prenatal lethality with impaired exocrine and endocrine pancreatic development.|A|G|46|37.0|Non-synonymous|Line Propagating
5195817|IGL01082|3|103326859|I->T|0.11|Benign|MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|T|C|39|39.0|Non-synonymous|Line Propagating
5195818|IGL01082|2|89844063|Disrupted splicing|||MGI:1333765|Olfr48|olfactory receptor 48 [Source:MGI Symbol;Acc:MGI:1333765]|Heterozygous||A|T|33|39.0|Splice|Line Propagating
5195819|IGL01082|19|7095974|T->A||Benign|MGI:3026647, MGI:2147583|Macrod1,flrt1|MACRO domain containing 1 [Source:MGI Symbol;Acc:MGI:2147583],fibronectin leucine rich transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:3026647]|Heterozygous||T|C|30|35.0|Non-synonymous|Line Propagating
5195820|IGL01082|7|24234359|L->Q|1.0|Probably damaging|MGI:1929099|Zfp109|zinc finger protein 109 [Source:MGI Symbol;Acc:MGI:1929099]|Heterozygous||A|T|30|35.0|Non-synonymous|Line Propagating
5195822|IGL01082|13|23562374|Disrupted splicing|||MGI:2448326|Hist1h3e|histone cluster 1, H3e [Source:MGI Symbol;Acc:MGI:2448326]|Heterozygous||A|G|27|36.0|Splice|Line Propagating
5195823|IGL01082|5|108671878|T->N|0.7|Possibly damaging|MGI:96418, MGI:2385894|Slc26a1,idua|solute carrier family 26 (sulfate transporter), member 1 [Source:MGI Symbol;Acc:MGI:2385894],iduronidase, alpha-L- [Source:MGI Symbol;Acc:MGI:96418]|Heterozygous|Mice homozygous for disruptions in this gene develop kidney stones and have an increased susceptibility to acetaminophen-induced liver damage.,Targeted mutants show lysosomal storage in multiple tissues, increased urinary GAG, craniofacial and skeletal defects, increased body weight, impaired habituation and long-term memory for aversive training, reduced ventricular function with valve insufficiency, and progressive hearing loss.|G|T|23|38.0|Non-synonymous|Line Propagating
5195824|IGL01082|16|37204578|S->P|0.7|Possibly damaging|MGI:2443815|Stxbp5l|syntaxin binding protein 5-like [Source:MGI Symbol;Acc:MGI:2443815]|Heterozygous||A|G|16|39.0|Non-synonymous|Line Propagating
5195825|IGL01082|17|34714610|Q->K||Benign|MGI:1932137|Tnxb|tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]|Heterozygous|Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.|C|A|12|33.0|Non-synonymous|Line Propagating
5196395|IGL01083|13|95356409|V->A|0.78|Possibly damaging|MGI:1913799|Aggf1|angiogenic factor with G patch and FHA domains 1 [Source:MGI Symbol;Acc:MGI:1913799]|Heterozygous||A|G|87|39.0|Non-synonymous|Line Propagating
5196396|IGL01083|16|59361835|P->S|1.0|Probably damaging|MGI:3030043|Olfr209|olfactory receptor 209 [Source:MGI Symbol;Acc:MGI:3030043]|Heterozygous||G|A|64|38.0|Non-synonymous|Line Propagating
5196397|IGL01083|6|148195271|T->A||Benign|MGI:1914706|Ergic2|ERGIC and golgi 2 [Source:MGI Symbol;Acc:MGI:1914706]|Heterozygous||T|C|64|40.0|Non-synonymous|Line Propagating
5196398|IGL01083|13|54467820|Disrupted splicing|||MGI:1920916|Thoc3|THO complex 3 [Source:MGI Symbol;Acc:MGI:1920916]|Heterozygous||A|C|50|38.0|Splice|Line Propagating
5196399|IGL01083|16|91657391|E->K|1.0|Probably damaging|MGI:98353|Son|Son DNA binding protein [Source:MGI Symbol;Acc:MGI:98353]|Heterozygous||G|A|48|38.5|Non-synonymous|Line Propagating
5196400|IGL01083|4|101835532|M->L||Benign|MGI:3588238|B020004j07rik|RIKEN cDNA B020004J07 gene [Source:MGI Symbol;Acc:MGI:3588238]|Heterozygous||T|A|47|39.0|Non-synonymous|Line Propagating
5196401|IGL01083|6|130189766|L->P|0.5|Possibly damaging|MGI:1321153|Klra9|killer cell lectin-like receptor subfamily A, member 9 [Source:MGI Symbol;Acc:MGI:1321153]|Heterozygous||A|G|45|40.0|Non-synonymous|Line Propagating
5196402|IGL01083|3|152222234|E->G|1.0|Probably damaging|MGI:1196294|Fubp1|far upstream element (FUSE) binding protein 1 [Source:MGI Symbol;Acc:MGI:1196294]|Heterozygous||A|G|44|38.5|Non-synonymous|Line Propagating
5196403|IGL01083|15|102281090|Y->C|1.0|Probably damaging|MGI:2145901|Mfsd5|major facilitator superfamily domain containing 5 [Source:MGI Symbol;Acc:MGI:2145901]|Heterozygous||A|G|41|35.0|Non-synonymous|Line Propagating
5196404|IGL01083|5|147354870|Y->C|1.0|Probably damaging|MGI:95559|Flt3|FMS-like tyrosine kinase 3 [Source:MGI Symbol;Acc:MGI:95559]|Heterozygous|Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus.|T|C|41|36.0|Non-synonymous|Line Propagating
5196405|IGL01083|12|73288493|V->A|||MGI:3648156|Slc38a6|solute carrier family 38, member 6 [Source:MGI Symbol;Acc:MGI:3648156]|Heterozygous||T|C|40|37.0|Non-synonymous|Line Propagating
5196406|IGL01083|4|134075444|I->F|0.6|Possibly damaging|MGI:1334463|Aim1l|absent in melanoma 1-like [Source:MGI Symbol;Acc:MGI:1334463]|Heterozygous||A|T|40|36.0|Non-synonymous|Line Propagating
5196407|IGL01083|7|35794038|T->A||Benign|MGI:1916378|Zfp507|zinc finger protein 507 [Source:MGI Symbol;Acc:MGI:1916378]|Heterozygous||T|C|40|38.0|Non-synonymous|Line Propagating
5196408|IGL01083|15|64787342|D->G|0.03|Benign|MGI:1341110|Adcy8|adenylate cyclase 8 [Source:MGI Symbol;Acc:MGI:1341110]|Heterozygous|Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).|T|C|38|38.5|Non-synonymous|Line Propagating
5196409|IGL01083|8|61538807|S->P|0.09|Benign|MGI:1919583|Palld|palladin, cytoskeletal associated protein [Source:MGI Symbol;Acc:MGI:1919583]|Heterozygous|All homozygous null embryos die around E15.5 displaying exencephaly derived from neural tube closure defects, and herniation of the intestine and liver due to ventral closure defects. Mutant MEFs show impaired formation of actin stress fibers, reduced migration and decreased adhesion to fibronectin.|A|G|37|38.0|Non-synonymous|Line Propagating
5196410|IGL01083|17|35156201|R->S|1.0|Probably damaging|MGI:1915467|Prrc2a|proline-rich coiled-coil 2A [Source:MGI Symbol;Acc:MGI:1915467]|Heterozygous||G|T|36|34.0|Non-synonymous|Line Propagating
5196411|IGL01083|2|112751846|Disrupted splicing|||MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|A|G|29|39.0|Splice|Line Propagating
5196413|IGL01083|5|30876093|V->M|0.01|Benign|MGI:1916046|Tmem214|transmembrane protein 214 [Source:MGI Symbol;Acc:MGI:1916046]|Heterozygous||G|A|27|36.0|Non-synonymous|Line Propagating
5196414|IGL01083|1|107157743|L->F|0.85|Possibly damaging|MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||T|A|26|39.5|Non-synonymous|Line Propagating
5196415|IGL01083|3|108426858|L->P|0.94|Possibly damaging|MGI:102809|Sars|seryl-aminoacyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:102809]|Heterozygous||A|G|23|40.0|Non-synonymous|Line Propagating
5196416|IGL01083|6|87588784|H->Q||Benign|MGI:1929676|Prokr1|prokineticin receptor 1 [Source:MGI Symbol;Acc:MGI:1929676]|Heterozygous|Mice homozygous for one null allele exhibit abnormal nociceptions and hypoalgesia. Mice homozygous for another null allele exhibit decreased capillary density in the heart.|A|T|23|38.0|Non-synonymous|Line Propagating
5196417|IGL01083|2|117285068|W->R|0.44|Possibly damaging|MGI:1314635|Rasgrp1|RAS guanyl releasing protein 1 [Source:MGI Symbol;Acc:MGI:1314635]|Heterozygous|Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes.|A|G|22|37.5|Non-synonymous|Line Propagating
5196418|IGL01083|17|23668131|Q->R|1.0|Probably damaging|MGI:2388267|Ccdc64b|coiled-coil domain containing 64B [Source:MGI Symbol;Acc:MGI:2388267]|Heterozygous||A|G|21|38.0|Non-synonymous|Line Propagating
5196419|IGL01083|6|87054696|S->G|0.98|Probably damaging|MGI:95698|Gfpt1|glutamine fructose-6-phosphate transaminase 1 [Source:MGI Symbol;Acc:MGI:95698]|Heterozygous||A|G|20|38.0|Non-synonymous|Line Propagating
5196420|IGL01083|10|10407554|V->A|0.03|Benign|MGI:3605549|9130014g24rik|RIKEN cDNA 9130014G24 gene [Source:MGI Symbol;Acc:MGI:3605549]|Heterozygous||A|G|19|37.0|Non-synonymous|Line Propagating
5196421|IGL01083|12|40788381|Disrupted splicing|||MGI:1918006|Dock4|dedicator of cytokinesis 4 [Source:MGI Symbol;Acc:MGI:1918006]|Heterozygous||G|A|19|37.0|Splice|Line Propagating
5196422|IGL01083|1|40805817|F->Y|0.11|Benign|MGI:1923725|Tmem182|transmembrane protein 182 [Source:MGI Symbol;Acc:MGI:1923725]|Heterozygous||T|A|18|36.0|Non-synonymous|Line Propagating
5196423|IGL01083|14|52221420|R->L|1.0|Probably damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|C|A|18|40.0|Non-synonymous|Line Propagating
5196424|IGL01083|12|95780347|R->S|0.49|Possibly damaging|MGI:3603594|Flrt2|fibronectin leucine rich transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:3603594]|Heterozygous||A|T|14|34.0|Non-synonymous|Line Propagating
5196425|IGL01083|18|74733903|Disrupted splicing|||MGI:106598|Myo5b|myosin VB [Source:MGI Symbol;Acc:MGI:106598]|Heterozygous||T|A|13|37.0|Splice|Line Propagating
5196426|IGL01083|11|59036093|T->M|||MGI:2681862|Obscn|obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]|Heterozygous||G|A|11|38.0|Non-synonymous|Line Propagating
5196427|IGL01083|1|172284619|T->A||Benign|MGI:88106|Atp1a2|ATPase, Na+/K+ transporting, alpha 2 polypeptide [Source:MGI Symbol;Acc:MGI:88106]|Heterozygous|Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons.|T|C|10|37.5|Non-synonymous|Line Propagating
5196428|IGL01083|11|105221224|S->R|0.07|Benign|MGI:1346023|Tlk2|tousled-like kinase 2 (Arabidopsis) [Source:MGI Symbol;Acc:MGI:1346023]|Heterozygous||T|A|10|34.0|Non-synonymous|Line Propagating
5197023|IGL01084|10|79194599|Y->C|1.0|Probably damaging|MGI:3646321|Vmn2r80|vomeronasal 2, receptor 80 [Source:MGI Symbol;Acc:MGI:3646321]|Heterozygous||A|G|197|37.0|Non-synonymous|Line Propagating
5197024|IGL01084|4|130951934|K->E|0.25|Benign|MGI:106591|Matn1|matrilin 1, cartilage matrix protein [Source:MGI Symbol;Acc:MGI:106591]|Heterozygous|Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects.|A|G|130|37.0|Non-synonymous|Line Propagating
5197025|IGL01084|6|55055827|D->E|0.01|Benign|MGI:2449057|Gars|glycyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2449057]|Heterozygous|A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice.|C|A|92|37.5|Non-synonymous|Line Propagating
5197026|IGL01084|5|84071087|R->Stop||N/A|MGI:99654|Epha5|Eph receptor A5 [Source:MGI Symbol;Acc:MGI:99654]|Heterozygous|Homozygous mutant mice are overtly normal but show abnormal retinal axon mapping.|G|A|81|39.0|Non-synonymous|Line Propagating
5197027|IGL01084|7|126575254|E->G|1.0|Probably damaging|MGI:107537|Cln3|ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) [Source:MGI Symbol;Acc:MGI:107537]|Heterozygous|Homozygotes for targeted mutations show neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of interneuron populations in the hippocampus, gliosis, mild neurological symptoms and excess late mortality.|T|C|71|37.0|Non-synonymous|Line Propagating
5197028|IGL01084|2|144564589|I->M|0.51|Possibly damaging|MGI:1350925|Sec23b|SEC23B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1350925]|Heterozygous||A|G|65|39.0|Non-synonymous|Line Propagating
5197029|IGL01084|19|13887502|T->N|1.0|Probably damaging|MGI:3031338|Olfr1504|olfactory receptor 1504 [Source:MGI Symbol;Acc:MGI:3031338]|Heterozygous||G|T|61|37.0|Non-synonymous|Line Propagating
5197030|IGL01084|19|17118209|V->A|0.74|Possibly damaging|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||T|C|56|37.0|Non-synonymous|Line Propagating
5197031|IGL01084|2|88025003|S->P|0.03|Benign|MGI:3030995|Olfr1161|olfactory receptor 1161 [Source:MGI Symbol;Acc:MGI:3030995]|Heterozygous||T|C|56|39.0|Non-synonymous|Line Propagating
5197032|IGL01084|2|127257086|V->A|0.88|Possibly damaging|MGI:1916720|Tmem127|transmembrane protein 127 [Source:MGI Symbol;Acc:MGI:1916720]|Heterozygous||T|C|56|37.0|Non-synonymous|Line Propagating
5197033|IGL01084|6|83944798|Y->H||Benign|MGI:1203484|Zfml|zinc finger, matrin-like [Source:MGI Symbol;Acc:MGI:1203484]|Heterozygous||T|C|53|39.0|Non-synonymous|Line Propagating
5197034|IGL01084|2|126846072|Disrupted splicing|||MGI:1929996|Trpm7|transient receptor potential cation channel, subfamily M, member 7 [Source:MGI Symbol;Acc:MGI:1929996]|Heterozygous|Mice homozygous for a null allele display embryonic lehality. Mice with conditional deletion in developing thymocytes display a block in thymopoiesis.|A|G|51|38.0|Splice|Line Propagating
5197035|IGL01084|19|5337772|V->M|0.79|Possibly damaging|MGI:2179947|Catsper1|cation channel, sperm associated 1 [Source:MGI Symbol;Acc:MGI:2179947]|Heterozygous|Homozygotes for a targeted null mutation exhibit sperm with markedly decreased motility that are unable to fertilize ova and lack a calcium ion influx response to cyclic-AMP.|G|A|48|37.0|Non-synonymous|Line Propagating
5197036|IGL01084|19|12714612|K->E|1.0|Probably damaging|MGI:1928492|Keg1|kidney expressed gene 1 [Source:MGI Symbol;Acc:MGI:1928492]|Heterozygous||A|G|47|39.0|Non-synonymous|Line Propagating
5197037|IGL01084|1|180142274|Disrupted splicing|||MGI:2441841|Cdc42bpa|CDC42 binding protein kinase alpha [Source:MGI Symbol;Acc:MGI:2441841]|Heterozygous||T|A|46|40.0|Splice|Line Propagating
5197038|IGL01084|4|145154955|L->S|0.01|Benign|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||A|G|43|36.0|Non-synonymous|Line Propagating
5197039|IGL01084|13|46750634|Disrupted splicing|||MGI:1098264|Kif13a|kinesin family member 13A [Source:MGI Symbol;Acc:MGI:1098264]|Heterozygous||A|G|42|33.5|Splice|Line Propagating
5197040|IGL01084|16|33226851|Disrupted splicing|||MGI:2146553|Osbpl11|oxysterol binding protein-like 11 [Source:MGI Symbol;Acc:MGI:2146553]|Heterozygous||T|C|42|38.5|Splice|Line Propagating
5197041|IGL01084|2|155998393|H->Y|0.68|Possibly damaging|MGI:108084|Cep250|centrosomal protein 250 [Source:MGI Symbol;Acc:MGI:108084]|Heterozygous||C|T|39|38.0|Non-synonymous|Line Propagating
5197042|IGL01084|7|6317185|F->S|1.0|Probably damaging|MGI:2682297|Zfp583|zinc finger protein 583 [Source:MGI Symbol;Acc:MGI:2682297]|Heterozygous||A|G|39|39.0|Non-synonymous|Line Propagating
5197043|IGL01084|2|9883073|T->A||Unknown|MGI:1921185|4930412o13rik|RIKEN cDNA 4930412O13 gene [Source:MGI Symbol;Acc:MGI:1921185]|Heterozygous||A|G|37|34.0|Non-synonymous|Line Propagating
5197044|IGL01084|9|7505650|V->A|0.23|Benign|MGI:97007|Mmp10|matrix metallopeptidase 10 [Source:MGI Symbol;Acc:MGI:97007]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection.|T|C|37|37.0|Non-synonymous|Line Propagating
5197045|IGL01084|11|73294000|Disrupted splicing|||MGI:2181407|Trpv3|transient receptor potential cation channel, subfamily V, member 3 [Source:MGI Symbol;Acc:MGI:2181407]|Heterozygous|Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.|G|A|34|40.0|Splice|Line Propagating
5197046|IGL01084|7|141843449|Disrupted splicing|||MGI:1921430|Muc5b|mucin 5, subtype B, tracheobronchial [Source:MGI Symbol;Acc:MGI:1921430]|Heterozygous||T|C|34|39.0|Splice|Line Propagating
5197047|IGL01084|9|63639619|Q->K|1.0|Probably damaging|MGI:1914189|Aagab|alpha- and gamma-adaptin binding protein [Source:MGI Symbol;Acc:MGI:1914189]|Heterozygous||C|A|33|38.0|Non-synonymous|Line Propagating
5197048|IGL01084|4|58111419|T->S|0.99|Probably damaging|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||T|A|30|37.0|Non-synonymous|Line Propagating
5197049|IGL01084|7|45422523|Disrupted splicing|||MGI:1342299|Ruvbl2|RuvB-like protein 2 [Source:MGI Symbol;Acc:MGI:1342299]|Heterozygous||A|T|30|37.0|Splice|Line Propagating
5197050|IGL01084|7|19190738|C->Stop||N/A|MGI:1919455|Eml2|echinoderm microtubule associated protein like 2 [Source:MGI Symbol;Acc:MGI:1919455]|Heterozygous||T|A|28|35.5|Non-synonymous|Line Propagating
5197051|IGL01084|13|63543637|E->D|0.02|Benign|MGI:105373|Ptch1|patched homolog 1 [Source:MGI Symbol;Acc:MGI:105373]|Heterozygous|Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects.|T|A|27|39.0|Non-synonymous|Line Propagating
5197052|IGL01084|7|79793083|S->P||Benign|MGI:107785|Mesp1|mesoderm posterior 1 [Source:MGI Symbol;Acc:MGI:107785]|Heterozygous|Homozygotes for targeted null mutations die by embryonic day 10.5 with growth retardation and heart defects.|A|G|27|33.0|Non-synonymous|Line Propagating
5197053|IGL01084|5|71006233|F->L|1.0|Probably damaging|MGI:95614|Gabra2|gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2 [Source:MGI Symbol;Acc:MGI:95614]|Heterozygous|Mice homozygous for a knockout allele are resistant to the anxiolytic effects of diazepam (DZP). Mice homozygous for a different knock-out allele exhibit reduced DZP-induced antihyperalgesia.|A|G|26|40.0|Non-synonymous|Line Propagating
5197054|IGL01084|19|37936436|T->A|0.95|Possibly damaging|MGI:1919192|Myof|myoferlin [Source:MGI Symbol;Acc:MGI:1919192]|Heterozygous||T|C|25|37.0|Non-synonymous|Line Propagating
5197055|IGL01084|5|129139592|N->I|0.46|Possibly damaging|MGI:3041203|Gpr133|G protein-coupled receptor 133 [Source:MGI Symbol;Acc:MGI:3041203]|Heterozygous||A|T|25|39.0|Non-synonymous|Line Propagating
5197057|IGL01084|11|62713890|Y->Stop||N/A|MGI:2176561|Zfp287|zinc finger protein 287 [Source:MGI Symbol;Acc:MGI:2176561]|Heterozygous||G|T|15|38.0|Non-synonymous|Line Propagating
5197060|IGL01084|2|158543218|F->S|0.9|Possibly damaging|MGI:3649852|Arhgap40|Rho GTPase activating protein 40 [Source:MGI Symbol;Acc:MGI:3649852]|Heterozygous||T|C|15|38.0|Non-synonymous|Line Propagating
5197061|IGL01084|2|181206384|Disrupted splicing|||MGI:101865|Srms|src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Source:MGI Symbol;Acc:MGI:101865]|Heterozygous|Homozygous mice exhibit no detectable abnormalities.|A|C|11|37.0|Splice|Line Propagating
5197062|IGL01084|8|91122313|E->G|1.0|Probably damaging|MGI:105085|Rbl2|retinoblastoma-like 2 [Source:MGI Symbol;Acc:MGI:105085]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested embryonic growth and varying disorganization in neural and dermamyotome structures, with death by embryonic day 11-13. On a different background mutants were viable and fertile.|A|G|11|38.0|Non-synonymous|Line Propagating
5197063|IGL01084|11|73984527|L->Q|1.0|Probably damaging|MGI:3030232|Olfr398|olfactory receptor 398 [Source:MGI Symbol;Acc:MGI:3030232]|Heterozygous||A|T|10|36.5|Non-synonymous|Line Propagating
5197661|IGL01085|1|92620199|V->F|0.93|Possibly damaging|MGI:107863|Olfr12|olfactory receptor 12 [Source:MGI Symbol;Acc:MGI:107863]|Heterozygous||G|T|322|38.0|Non-synonymous|Alive, Line Propagating
5197662|IGL01085|4|88676732|I->K||Benign|MGI:3649260|Gm13280|predicted gene 13280 [Source:MGI Symbol;Acc:MGI:3649260]|Heterozygous||A|T|159|38.0|Non-synonymous|Alive, Line Propagating
5197663|IGL01085|15|44562752|Disrupted splicing|||MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||G|A|140|40.0|Splice|Alive, Line Propagating
5197664|IGL01085|1|174695654|N->K|1.0|Probably damaging|MGI:1859252|Fmn2|formin 2 [Source:MGI Symbol;Acc:MGI:1859252]|Heterozygous|Female mice homozygous for a knock-out allele display polyploid embryo formation, recurrent pregnancy loss, hypofertility, and inadequate nursing behavior.|T|A|139|38.0|Non-synonymous|Alive, Line Propagating
5197665|IGL01085|5|6770931|S->P|0.99|Probably damaging|MGI:2685287|Zfp804b|zinc finger protein 804B [Source:MGI Symbol;Acc:MGI:2685287]|Heterozygous||A|G|127|39.0|Non-synonymous|Alive, Line Propagating
5197666|IGL01085|17|56565242|R->Stop||N/A|MGI:2146808|Safb2|scaffold attachment factor B2 [Source:MGI Symbol;Acc:MGI:2146808]|Heterozygous||T|A|112|34.0|Non-synonymous|Alive, Line Propagating
5197667|IGL01085|2|24678994|R->S|0.97|Probably damaging|MGI:88296|Cacna1b|calcium channel, voltage-dependent, N type, alpha 1B subunit [Source:MGI Symbol;Acc:MGI:88296]|Heterozygous|Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation.|G|T|99|35.0|Non-synonymous|Alive, Line Propagating
5197668|IGL01085|19|7790099|V->A|0.01|Benign|MGI:2385316|Slc22a26|solute carrier family 22 (organic cation transporter), member 26 [Source:MGI Symbol;Acc:MGI:2385316]|Heterozygous||A|G|98|38.5|Non-synonymous|Alive, Line Propagating
5197669|IGL01085|5|3584762|V->M|||MGI:2442653|Rbm48|RNA binding motif protein 48 [Source:MGI Symbol;Acc:MGI:2442653]|Heterozygous||C|T|78|39.0|Non-synonymous|Alive, Line Propagating
5197670|IGL01085|11|108486606|R->L|1.0|Probably damaging|MGI:1923673|Ccdc46|coiled-coil domain containing 46 [Source:MGI Symbol;Acc:MGI:1923673]|Heterozygous||G|T|76|39.0|Non-synonymous|Alive, Line Propagating
5197671|IGL01085|6|91408789|V->I||Benign|MGI:98961|Wnt7a|wingless-related MMTV integration site 7A [Source:MGI Symbol;Acc:MGI:98961]|Heterozygous|Homozygous mutants have skeletal abnormalities including absence of digits, especially of the forelimb, and sometimes absence of the ulna. Occasionally, there is an extra set of ribs. Both sexes are sterile due to abnormalities of the Mullerian duct.|C|T|69|35.0|Non-synonymous|Alive, Line Propagating
5197672|IGL01085|15|76453376|D->G|1.0|Probably damaging|MGI:1334460|Bop1|block of proliferation 1 [Source:MGI Symbol;Acc:MGI:1334460]|Heterozygous||T|C|62|38.0|Non-synonymous|Alive, Line Propagating
5197673|IGL01085|16|13809062|V->M|1.0|Probably damaging|MGI:1925255|Rrn3|RRN3 RNA polymerase I transcription factor homolog (yeast) [Source:MGI Symbol;Acc:MGI:1925255]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, failure to undergo embryonic turning, delayed embryonic development, markedly reduced embryo size, and increased apoptosis.|G|A|60|39.0|Non-synonymous|Alive, Line Propagating
5197674|IGL01085|18|3299236|T->A|0.96|Probably damaging|MGI:88495|Crem|cAMP responsive element modulator [Source:MGI Symbol;Acc:MGI:88495]|Heterozygous|Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression.|T|C|59|38.0|Non-synonymous|Alive, Line Propagating
5197675|IGL01085|8|105846665|E->G|0.27|Benign|MGI:2443939|Cenpt|centromere protein T [Source:MGI Symbol;Acc:MGI:2443939]|Heterozygous||T|C|59|37.0|Non-synonymous|Alive, Line Propagating
5197676|IGL01085|13|89679958|D->G|1.0|Probably damaging|MGI:102889|Vcan|versican [Source:MGI Symbol;Acc:MGI:102889]|Heterozygous|Homozygotes for an insertional mutation exhibit anterior-posterior segmental defects of the heart, lack endocardial cushions of the conus and atrioventricular region, and die and around embryonic day 10.5.|T|C|56|37.5|Non-synonymous|Alive, Line Propagating
5197677|IGL01085|3|60037342|Disrupted splicing|||MGI:1915008|Aadac|arylacetamide deacetylase (esterase) [Source:MGI Symbol;Acc:MGI:1915008]|Heterozygous||A|G|54|37.0|Splice|Alive, Line Propagating
5197678|IGL01085|8|41309603|S->P|1.0|Probably damaging|MGI:1277958|Pcm1|pericentriolar material 1 [Source:MGI Symbol;Acc:MGI:1277958]|Heterozygous||T|C|54|37.5|Non-synonymous|Alive, Line Propagating
5197679|IGL01085|17|24881660|T->I|0.01|Benign|MGI:107973|Igfals|insulin-like growth factor binding protein, acid labile subunit [Source:MGI Symbol;Acc:MGI:107973]|Heterozygous|Mice homozygous for disruptions in this gene gain weight more slowly after birth and display less growth in long bones.|C|T|45|35.0|Non-synonymous|Alive, Line Propagating
5197680|IGL01085|5|8973955|H->R|0.92|Possibly damaging|MGI:1921364|Crot|carnitine O-octanoyltransferase [Source:MGI Symbol;Acc:MGI:1921364]|Heterozygous||T|C|45|39.0|Non-synonymous|Alive, Line Propagating
5197681|IGL01085|4|120533356|R->L|1.0|Probably damaging|MGI:3045330|Slfnl1|schlafen like 1 [Source:MGI Symbol;Acc:MGI:3045330]|Heterozygous||G|T|43|37.0|Non-synonymous|Alive, Line Propagating
5197682|IGL01085|11|102154660|L->Q|0.96|Probably damaging|MGI:1923797|Tmem101|transmembrane protein 101 [Source:MGI Symbol;Acc:MGI:1923797]|Heterozygous||A|T|42|33.0|Non-synonymous|Alive, Line Propagating
5197683|IGL01085|17|36883241|I->V||Benign|MGI:2684881|Trim40|tripartite motif-containing 40 [Source:MGI Symbol;Acc:MGI:2684881]|Heterozygous||T|C|42|39.0|Non-synonymous|Alive, Line Propagating
5197684|IGL01085|2|32280727|M->V|0.99|Probably damaging|MGI:1920181|Swi5|SWI5 recombination repair homolog (yeast) [Source:MGI Symbol;Acc:MGI:1920181]|Heterozygous||T|C|41|35.0|Non-synonymous|Alive, Line Propagating
5197685|IGL01085|3|152368569|K->E|0.99|Probably damaging|MGI:2159711|Usp33|ubiquitin specific peptidase 33 [Source:MGI Symbol;Acc:MGI:2159711]|Heterozygous||A|G|41|39.0|Non-synonymous|Alive, Line Propagating
5197686|IGL01085|2|52085140|M->V||Benign|MGI:1098622|Rif1|Rap1 interacting factor 1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1098622]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation.|A|G|37|40.0|Non-synonymous|Alive, Line Propagating
5197687|IGL01085|13|71959697|S->P||Benign|MGI:1197515|Irx1|Iroquois related homeobox 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1197515]|Heterozygous||A|G|36|35.0|Non-synonymous|Alive, Line Propagating
5197688|IGL01085|3|146476242|Q->K|0.67|Possibly damaging|MGI:1918201|Spata1|spermatogenesis associated 1 [Source:MGI Symbol;Acc:MGI:1918201]|Heterozygous||G|T|36|40.0|Non-synonymous|Alive, Line Propagating
5197689|IGL01085|11|101100925|Q->Stop||N/A|MGI:1915248|Fam134c|family with sequence similarity 134, member C [Source:MGI Symbol;Acc:MGI:1915248]|Heterozygous||G|A|34|38.5|Non-synonymous|Alive, Line Propagating
5197690|IGL01085|5|121331701|G->V|||MGI:3647820|Gm15800|predicted gene 15800 [Source:MGI Symbol;Acc:MGI:3647820]|Heterozygous||G|T|34|35.5|Non-synonymous|Alive, Line Propagating
5197691|IGL01085|1|13149079|T->A|0.35|Benign|MGI:1276533|Ncoa2|nuclear receptor coactivator 2 [Source:MGI Symbol;Acc:MGI:1276533]|Heterozygous|Homozygous null mice exhibit a transient postnatal growth deficiency and hypofertility. Male hypofertility is due to defects in spermiogenesis and an age-dependent testicular degeneration preceded by defective lipid metabolism in Sertoli cells. Female hypofertility is due to a placental hypoplasia.|T|C|31|35.0|Non-synonymous|Alive, Line Propagating
5197692|IGL01085|16|20728455|D->G|0.95|Possibly damaging|MGI:101875|Thpo|thrombopoietin [Source:MGI Symbol;Acc:MGI:101875]|Heterozygous|Mice homozygous for targeted mutations at this locus are unable to produce normal amounts of megakaryocytes and platelets.|T|C|31|33.0|Non-synonymous|Alive, Line Propagating
5197693|IGL01085|17|34645744|L->P|1.0|Probably damaging|MGI:1932127|Fkbpl|FK506 binding protein-like [Source:MGI Symbol;Acc:MGI:1932127]|Heterozygous||T|C|30|39.0|Non-synonymous|Alive, Line Propagating
5197694|IGL01085|7|99118224|T->A|1.0|Probably damaging|MGI:1925860|Uvrag|UV radiation resistance associated gene [Source:MGI Symbol;Acc:MGI:1925860]|Heterozygous||T|C|28|39.0|Non-synonymous|Alive, Line Propagating
5197695|IGL01085|5|30013489|V->F|0.98|Probably damaging|MGI:96559|Il6|interleukin 6 [Source:MGI Symbol;Acc:MGI:96559]|Heterozygous|Homozygous null mutants show impaired immune response to pathogens, decreased T cell numbers and resistance to plasma cell neoplasia. They are defective in wound healing and liver regeneration and show increased emotionality and high bone turnover rate.|G|T|27|39.0|Non-synonymous|Alive, Line Propagating
5197696|IGL01085|7|28611053|Y->C|1.0|Probably damaging|MGI:2142121|C330005m16rik|RIKEN cDNA C330005M16 gene [Source:MGI Symbol;Acc:MGI:2142121]|Heterozygous||T|C|25|33.0|Non-synonymous|Alive, Line Propagating
5197697|IGL01085|16|18076344|V->E|0.97|Probably damaging|MGI:97770|Prodh|proline dehydrogenase [Source:MGI Symbol;Acc:MGI:97770]|Heterozygous|Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate.|A|T|22|35.0|Non-synonymous|Alive, Line Propagating
5197698|IGL01085|7|17915691|H->L|||MGI:3647191|Gm5155|predicted gene 5155 [Source:MGI Symbol;Acc:MGI:3647191]|Heterozygous||A|T|22|36.5|Non-synonymous|Alive, Line Propagating
5197699|IGL01085|11|115269576|V->E|0.01|Benign|MGI:104724|Fdxr|ferredoxin reductase [Source:MGI Symbol;Acc:MGI:104724]|Heterozygous||A|T|21|36.0|Non-synonymous|Alive, Line Propagating
5197700|IGL01085|2|5864427|V->I||Benign|MGI:1858232|Nudt5|nudix (nucleoside diphosphate linked moiety X)-type motif 5 [Source:MGI Symbol;Acc:MGI:1858232]|Heterozygous||G|A|17|39.0|Non-synonymous|Alive, Line Propagating
5197701|IGL01085|8|76908354|R->L||Benign|MGI:99459|Nr3c2|nuclear receptor subfamily 3, group C, member 2 [Source:MGI Symbol;Acc:MGI:99459]|Heterozygous|Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration.|G|T|17|36.0|Non-synonymous|Alive, Line Propagating
5198307|IGL01086|15|77423914|E->G|1.0|Probably damaging|MGI:3583950|Apol7b|apolipoprotein L 7b [Source:MGI Symbol;Acc:MGI:3583950]|Heterozygous||T|C|142|38.0|Non-synonymous|Alive
5198308|IGL01086|11|115790284|T->S|0.07|Benign|MGI:1919197|2310067b10rik|RIKEN cDNA 2310067B10 gene [Source:MGI Symbol;Acc:MGI:1919197]|Heterozygous||A|T|129|36.0|Non-synonymous|Alive
5198309|IGL01086|1|181752046|L->S|0.01|Benign|MGI:2444525|Dnahc14|dynein, axonemal, heavy chain 14 [Source:MGI Symbol;Acc:MGI:2444525]|Heterozygous||T|C|113|39.0|Non-synonymous|Alive
5198310|IGL01086|3|80692381|Y->C|||MGI:95809|Gria2|glutamate receptor, ionotropic, AMPA2 (alpha 2) [Source:MGI Symbol;Acc:MGI:95809]|Heterozygous|Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality.|T|C|101|37.0|Non-synonymous|Alive
5198311|IGL01086|1|133091618|C->R|0.17|Benign|MGI:2685045|Pik3c2b|phosphoinositide-3-kinase, class 2, beta polypeptide [Source:MGI Symbol;Acc:MGI:2685045]|Heterozygous||T|C|100|35.0|Non-synonymous|Alive
5198312|IGL01086|1|171220309|K->R|0.08|Benign|MGI:3589112|Tomm40l|translocase of outer mitochondrial membrane 40 homolog-like (yeast) [Source:MGI Symbol;Acc:MGI:3589112]|Heterozygous||T|C|93|37.0|Non-synonymous|Alive
5198313|IGL01086|17|71824794|V->I||Benign|MGI:1919100|Clip4|CAP-GLY domain containing linker protein family, member 4 [Source:MGI Symbol;Acc:MGI:1919100]|Heterozygous||G|A|84|37.0|Non-synonymous|Alive
5198314|IGL01086|2|87803200|Y->Stop||N/A|MGI:3030977|Olfr1143|olfactory receptor 1143 [Source:MGI Symbol;Acc:MGI:3030977]|Heterozygous||T|A|81|39.0|Non-synonymous|Alive
5198315|IGL01086|11|77466548|C->Stop||N/A|MGI:2183448|Coro6|coronin 6 [Source:MGI Symbol;Acc:MGI:2183448]|Heterozygous||C|A|74|35.0|Non-synonymous|Alive
5198316|IGL01086|6|69438723|I->V|||MGI:3646808, MGI:3526935, MGI:3624752, MGI:3589938, MGI:3525629, MGI:3526936, MGI:3526937, MGI:3526938, MGI:3045410, MGI:2680928|Ac156953.1||Heterozygous||T|C|73|39.0|Non-synonymous|Alive
5198317|IGL01086|13|84222422|Disrupted splicing|||MGI:1919995|Tmem161b|transmembrane protein 161B [Source:MGI Symbol;Acc:MGI:1919995]|Heterozygous||T|C|72|36.0|Splice|Alive
5198318|IGL01086|5|103648863|R->S|0.44|Possibly damaging|MGI:1921468|1700016h13rik|RIKEN cDNA 1700016H13 gene [Source:MGI Symbol;Acc:MGI:1921468]|Heterozygous||T|A|62|35.5|Non-synonymous|Alive
5198319|IGL01086|2|25680780|F->L|0.72|Possibly damaging|MGI:3045364|Lcn6|lipocalin 6 [Source:MGI Symbol;Acc:MGI:3045364]|Heterozygous||T|C|59|38.0|Non-synonymous|Alive
5198320|IGL01086|2|31898476|F->S|1.0|Probably damaging|MGI:1344394|Lamc3|laminin gamma 3 [Source:MGI Symbol;Acc:MGI:1344394]|Heterozygous||T|C|59|35.0|Non-synonymous|Alive
5198321|IGL01086|5|92948452|C->S||Benign|MGI:1351655|Shroom3|shroom family member 3 [Source:MGI Symbol;Acc:MGI:1351655]|Heterozygous|Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter.|T|A|58|39.0|Non-synonymous|Alive
5198322|IGL01086|9|45702662|Disrupted splicing|||MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|T|C|54|36.0|Splice|Alive
5198323|IGL01086|13|73814843|Y->C|1.0|Probably damaging|MGI:1342283|Slc12a7|solute carrier family 12, member 7 [Source:MGI Symbol;Acc:MGI:1342283]|Heterozygous|Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis.|A|G|51|38.0|Non-synonymous|Alive
5198324|IGL01086|8|22626841|C->S|1.0|Probably damaging|MGI:2385299|Dkk4|dickkopf homolog 4 (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:2385299]|Heterozygous||T|A|50|37.0|Non-synonymous|Alive
5198325|IGL01086|12|103986070|D->V|0.88|Possibly damaging|MGI:2685741|Serpina11|serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 [Source:MGI Symbol;Acc:MGI:2685741]|Heterozygous||T|A|48|37.0|Non-synonymous|Alive
5198326|IGL01086|18|36796110|H->Y|1.0|Probably damaging|MGI:1913742|Zmat2|zinc finger, matrin type 2 [Source:MGI Symbol;Acc:MGI:1913742]|Heterozygous||C|T|45|38.0|Non-synonymous|Alive
5198327|IGL01086|2|181212423|V->A|1.0|Probably damaging|MGI:101865|Srms|src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Source:MGI Symbol;Acc:MGI:101865]|Heterozygous|Homozygous mice exhibit no detectable abnormalities.|A|G|44|35.0|Non-synonymous|Alive
5198328|IGL01086|2|65470159|M->L|0.22|Benign|MGI:98249|Scn3a|sodium channel, voltage-gated, type III, alpha [Source:MGI Symbol;Acc:MGI:98249]|Heterozygous|Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance.|T|A|42|39.0|Non-synonymous|Alive
5198329|IGL01086|7|58824318|F->L|1.0|Probably damaging|MGI:1330809|Atp10a|ATPase, class V, type 10A [Source:MGI Symbol;Acc:MGI:1330809]|Heterozygous|Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associate with that deletion.|T|C|41|40.0|Non-synonymous|Alive
5198330|IGL01086|1|154471601|D->G|||MGI:106217|Cacna1e|calcium channel, voltage-dependent, R type, alpha 1E subunit [Source:MGI Symbol;Acc:MGI:106217]|Heterozygous|Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.|T|C|33|38.0|Non-synonymous|Alive
5198331|IGL01086|1|63183491|E->G||Benign|MGI:2385324|Gpr1|G protein-coupled receptor 1 [Source:MGI Symbol;Acc:MGI:2385324]|Heterozygous||T|C|32|38.5|Non-synonymous|Alive
5198332|IGL01086|8|27473620|Disrupted splicing|||MGI:1918202|Poteg|POTE ankyrin domain family, member G [Source:MGI Symbol;Acc:MGI:1918202]|Heterozygous||T|A|30|37.5|Splice|Alive
5198333|IGL01086|5|30376273|Disrupted splicing|||MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|C|T|26|35.0|Splice|Alive
5198335|IGL01086|16|4179552|M->V|||MGI:1098280|Crebbp|CREB binding protein [Source:MGI Symbol;Acc:MGI:1098280]|Heterozygous|Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors.|T|C|19|37.0|Non-synonymous|Alive
5198336|IGL01086|10|85879893|Disrupted splicing|||MGI:1914735|Pwp1|PWP1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914735]|Heterozygous||T|C|17|36.0|Splice|Alive
5198337|IGL01086|1|173455433|Y->C|0.99|Probably damaging|MGI:2686159|Aim2|absent in melanoma 2 [Source:MGI Symbol;Acc:MGI:2686159]|Heterozygous||A|G|16|36.0|Non-synonymous|Alive
5198338|IGL01086|14|103612391|I->V|0.97|Probably damaging|MGI:1891228|Scel|sciellin [Source:MGI Symbol;Acc:MGI:1891228]|Heterozygous|Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function.|A|G|16|40.0|Non-synonymous|Alive
5198339|IGL01086|16|38407622|N->D|0.02|Benign|MGI:1934677|Pla1a|phospholipase A1 member A [Source:MGI Symbol;Acc:MGI:1934677]|Heterozygous||T|C|16|37.5|Non-synonymous|Alive
5198341|IGL01086|2|101684783|I->V||Benign|MGI:108072|Traf6|TNF receptor-associated factor 6 [Source:MGI Symbol;Acc:MGI:108072]|Heterozygous|Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function.|A|G|14|38.5|Non-synonymous|Alive
5198342|IGL01086|8|124675346|I->T|0.44|Possibly damaging|MGI:2384573|Ttc13|tetratricopeptide repeat domain 13 [Source:MGI Symbol;Acc:MGI:2384573]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive
5198343|IGL01086|6|35208936|Disrupted splicing|||MGI:2141625|Nup205|nucleoporin 205 [Source:MGI Symbol;Acc:MGI:2141625]|Heterozygous||T|A|10|39.0|Splice|Alive
5198932|IGL01087|15|8350497|S->I|0.98|Probably damaging|MGI:1913976|Nipbl|Nipped-B homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1913976]|Heterozygous|Mice heterozygous for a gene trap allele exhibit increased mortality from birth to early adulthood, decreased weight, decreased adipose tissue, delayed ossification, craniofacial abnormalities, and abnormal hearing, behavior, and eye morphology.|C|A|219|38.0|Non-synonymous|Alive, Line Propagating
5198933|IGL01087|11|98180285|D->Y||Unknown|MGI:1100846|Med1|mediator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1100846]|Heterozygous|Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5.|C|A|130|39.0|Non-synonymous|Alive, Line Propagating
5198934|IGL01087|14|78935229|S->T|0.56|Possibly damaging|MGI:1919008|Vwa8|von Willebrand factor A domain containing 8 [Source:MGI Symbol;Acc:MGI:1919008]|Heterozygous||T|A|120|37.0|Non-synonymous|Alive, Line Propagating
5198935|IGL01087|1|84757859|F->L|||MGI:1309481|Trip12|thyroid hormone receptor interactor 12 [Source:MGI Symbol;Acc:MGI:1309481]|Heterozygous||A|T|101|39.0|Non-synonymous|Alive, Line Propagating
5198936|IGL01087|13|50469629|T->A|0.31|Benign|MGI:2685652|Gm806|predicted gene 806 [Source:MGI Symbol;Acc:MGI:2685652]|Heterozygous||A|G|97|38.0|Non-synonymous|Alive, Line Propagating
5198937|IGL01087|11|110191650|A->S||Benign|MGI:1923434|Abca6|ATP-binding cassette, sub-family A (ABC1), member 6 [Source:MGI Symbol;Acc:MGI:1923434]|Heterozygous||C|A|89|40.0|Non-synonymous|Alive, Line Propagating
5198938|IGL01087|17|37151441|C->Y|1.0|Probably damaging|MGI:2177476|Olfr93|olfactory receptor 93 [Source:MGI Symbol;Acc:MGI:2177476]|Heterozygous||C|T|89|39.0|Non-synonymous|Alive, Line Propagating
5198939|IGL01087|3|105928733|Disrupted splicing|||MGI:3588284|I830077j02rik|RIKEN cDNA I830077J02 gene [Source:MGI Symbol;Acc:MGI:3588284]|Heterozygous||C|A|73|38.0|Splice|Alive, Line Propagating
5198940|IGL01087|16|11194675|K->E|0.3|Benign|MGI:1913659|Rsl1d1|ribosomal L1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1913659]|Heterozygous||T|C|68|40.0|Non-synonymous|Alive, Line Propagating
5198941|IGL01087|17|25829171|Disrupted splicing|||MGI:1919356|Jmjd8|jumonji domain containing 8 [Source:MGI Symbol;Acc:MGI:1919356]|Heterozygous||A|C|68|38.0|Splice|Alive, Line Propagating
5198942|IGL01087|6|136933624|K->N|1.0|Probably damaging|MGI:101940|Arhgdib|Rho, GDP dissociation inhibitor (GDI) beta [Source:MGI Symbol;Acc:MGI:101940]|Heterozygous|A homozygous null mutation results in mice that are viable and fertile. Immune reponses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation.|C|A|68|37.0|Non-synonymous|Alive, Line Propagating
5198943|IGL01087|17|48351928|T->I|0.96|Probably damaging|MGI:1913150|Trem2|triggering receptor expressed on myeloid cells 2 [Source:MGI Symbol;Acc:MGI:1913150]|Heterozygous|Mice homozygous for a knock-out allele display enhanced cytokine production by macrophages in response to toll-like receptor agonists.|C|T|64|37.0|Non-synonymous|Alive, Line Propagating
5198944|IGL01087|10|5425708|I->N|1.0|Probably damaging|MGI:1927152|Syne1|Nesprin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q6ZWR6]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|A|T|60|39.0|Non-synonymous|Alive, Line Propagating
5198945|IGL01087|16|29586997|P->S|||MGI:1921393|Opa1|optic atrophy 1 [Source:MGI Symbol;Acc:MGI:1921393]|Heterozygous|Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal response to a new environment and decreased vision.|C|T|60|40.0|Non-synonymous|Alive, Line Propagating
5198946|IGL01087|5|124451380|Disrupted splicing|||MGI:1915206|Setd8|SET domain containing (lysine methyltransferase) 8 [Source:MGI Symbol;Acc:MGI:1915206]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for an allele lacking exon 7 die prior to implantation.|T|C|60|34.5|Splice|Alive, Line Propagating
5198947|IGL01087|9|124353858|Disrupted splicing|||MGI:3700744|Nlrp4g|NLR family, pyrin domain containing 4G [Source:MGI Symbol;Acc:MGI:3700744]|Heterozygous||A|G|57|40.0|Splice|Alive, Line Propagating
5198948|IGL01087|10|127166191|I->F|1.0|Probably damaging|MGI:1342057|B4galnt1|beta-1,4-N-acetyl-galactosaminyl transferase 1 [Source:MGI Symbol;Acc:MGI:1342057]|Heterozygous|Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules.|A|T|53|35.0|Non-synonymous|Alive, Line Propagating
5198949|IGL01087|13|48902073|L->P|1.0|Probably damaging|MGI:2446163|Fam120a|family with sequence similarity 120A [Source:MGI Symbol;Acc:MGI:2446163]|Heterozygous||A|G|52|37.0|Non-synonymous|Alive, Line Propagating
5198950|IGL01087|7|113316556|D->G|0.02|Benign|MGI:1916065|Btbd10|BTB (POZ) domain containing 10 [Source:MGI Symbol;Acc:MGI:1916065]|Heterozygous||T|C|48|38.0|Non-synonymous|Alive, Line Propagating
5198951|IGL01087|17|46911159|T->A|0.97|Probably damaging|MGI:102791|Prph2|peripherin 2 [Source:MGI Symbol;Acc:MGI:102791]|Heterozygous|Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.|A|G|41|34.0|Non-synonymous|Alive, Line Propagating
5198952|IGL01087|9|59790078|Y->N|0.91|Possibly damaging|MGI:107735|Myo9a|myosin IXa [Source:MGI Symbol;Acc:MGI:107735]|Heterozygous||T|A|41|40.0|Non-synonymous|Alive, Line Propagating
5198953|IGL01087|10|74342632|I->F|||MGI:1891428|Pcdh15|protocadherin 15 [Source:MGI Symbol;Acc:MGI:1891428]|Heterozygous|Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers.|A|T|39|38.0|Non-synonymous|Alive, Line Propagating
5198954|IGL01087|3|89063902|V->D|1.0|Probably damaging|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|A|38|37.0|Non-synonymous|Alive, Line Propagating
5198955|IGL01087|11|80682435|S->P|1.0|Probably damaging|MGI:107728|Myo1d|myosin ID [Source:MGI Symbol;Acc:MGI:107728]|Heterozygous||A|G|37|37.0|Non-synonymous|Alive, Line Propagating
5198956|IGL01087|5|140441107|I->T|0.8|Possibly damaging|MGI:106478|Eif3b|eukaryotic translation initiation factor 3, subunit B [Source:MGI Symbol;Acc:MGI:106478]|Heterozygous||T|C|37|38.0|Non-synonymous|Alive, Line Propagating
5198957|IGL01087|5|45463969|Disrupted splicing|||MGI:3646230|Clrn2|clarin 2 [Source:MGI Symbol;Acc:MGI:3646230]|Heterozygous||T|C|35|37.0|Splice|Alive, Line Propagating
5198958|IGL01087|5|144846539|S->T|0.84|Possibly damaging|MGI:2153272|Trrap|transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]|Heterozygous|Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.|T|A|35|32.0|Non-synonymous|Alive, Line Propagating
5198959|IGL01087|6|37012911|D->G|1.0|Probably damaging|MGI:2443430|Dgki|diacylglycerol kinase, iota [Source:MGI Symbol;Acc:MGI:2443430]|Heterozygous|Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester.|T|C|34|37.0|Non-synonymous|Alive, Line Propagating
5198960|IGL01087|2|69524073|N->K|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|A|T|32|39.0|Non-synonymous|Alive, Line Propagating
5198961|IGL01087|2|70752316|N->K|0.12|Benign|MGI:2441683|Tlk1|tousled-like kinase 1 [Source:MGI Symbol;Acc:MGI:2441683]|Heterozygous||A|T|31|39.0|Non-synonymous|Alive, Line Propagating
5198962|IGL01087|6|83162788|Q->L|0.84|Possibly damaging|MGI:1919087|1700003e16rik|RIKEN cDNA 1700003E16 gene [Source:MGI Symbol;Acc:MGI:1919087]|Heterozygous||A|T|27|37.0|Non-synonymous|Alive, Line Propagating
5198963|IGL01087|6|47509044|T->A||Benign|MGI:1349658|Cul1|cullin 1 [Source:MGI Symbol;Acc:MGI:1349658]|Heterozygous|Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5.|A|G|26|38.0|Non-synonymous|Alive, Line Propagating
5198964|IGL01087|7|66172126|V->G|0.5|Possibly damaging|MGI:2681120|Chsy1|chondroitin sulfate synthase 1 [Source:MGI Symbol;Acc:MGI:2681120]|Heterozygous||T|G|24|40.0|Non-synonymous|Alive, Line Propagating
5198965|IGL01087|10|20325310|D->G|0.99|Probably damaging|MGI:1917580|Bclaf1|BCL2-associated transcription factor 1 [Source:MGI Symbol;Acc:MGI:1917580]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethalilty, impaired lung development, and T cell and B cell homeostasis.|A|G|23|39.0|Non-synonymous|Alive, Line Propagating
5198966|IGL01087|2|102822262|L->H|1.0|Probably damaging|MGI:88338|Cd44|CD44 antigen [Source:MGI Symbol;Acc:MGI:88338]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.|A|T|21|39.0|Non-synonymous|Alive, Line Propagating
5198967|IGL01087|7|80598739|Disrupted splicing|||MGI:1917711|Crtc3|CREB regulated transcription coactivator 3 [Source:MGI Symbol;Acc:MGI:1917711]|Heterozygous|Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature.|T|C|21|39.0|Splice|Alive, Line Propagating
5198968|IGL01087|12|81995339|Disrupted splicing|||MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||G|A|17|39.0|Splice|Alive, Line Propagating
5198969|IGL01087|16|11153182|T->A||Benign|MGI:2445044|Zc3h7a|zinc finger CCCH type containing 7 A [Source:MGI Symbol;Acc:MGI:2445044]|Heterozygous||T|C|16|37.5|Non-synonymous|Alive, Line Propagating
5198970|IGL01087|15|101431825|C->F|0.37|Benign|MGI:3665486|Krt83|keratin 83 [Source:MGI Symbol;Acc:MGI:3665486]|Heterozygous||C|A|12|36.0|Non-synonymous|Alive, Line Propagating
5198971|IGL01087|1|11068104|T->A||Benign|MGI:1923385|Prex2|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 [Source:MGI Symbol;Acc:MGI:1923385]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal Purkinje cell dendrite morphology and a mild motor coordination defect that progressively worsens with age and is more pronounced in females than in males.|A|G|11|40.0|Non-synonymous|Alive, Line Propagating
5200162|IGL01089|2|36377166|Y->F|||MGI:3030172|Olfr338|olfactory receptor 338 [Source:MGI Symbol;Acc:MGI:3030172]|Heterozygous||A|T|271|39.0|Non-synonymous|Line Propagating
5200163|IGL01089|11|100087779|S->P|0.96|Probably damaging|MGI:1309995|Krt32|keratin 32 [Source:MGI Symbol;Acc:MGI:1309995]|Heterozygous||A|G|150|38.0|Non-synonymous|Line Propagating
5200164|IGL01089|6|13663271|M->T|1.0|Probably damaging|MGI:2141466|B630005n14rik|RIKEN cDNA B630005N14 gene [Source:MGI Symbol;Acc:MGI:2141466]|Heterozygous||A|G|142|39.0|Non-synonymous|Line Propagating
5200165|IGL01089|7|125795313|E->G|1.0|Probably damaging|MGI:2442760|D430042o09rik|RIKEN cDNA D430042O09 gene [Source:MGI Symbol;Acc:MGI:2442760]|Heterozygous||A|G|119|35.0|Non-synonymous|Line Propagating
5200166|IGL01089|1|53348277|P->S|1.0|Probably damaging|MGI:1917646|Asnsd1|asparagine synthetase domain containing 1 [Source:MGI Symbol;Acc:MGI:1917646]|Heterozygous||G|A|117|39.0|Non-synonymous|Line Propagating
5200167|IGL01089|19|56913411|Disrupted splicing|||MGI:2147658|Afap1l2|actin filament associated protein 1-like 2 [Source:MGI Symbol;Acc:MGI:2147658]|Heterozygous||A|C|112|35.0|Splice|Line Propagating
5200168|IGL01089|4|94574047|V->A||Benign|MGI:104810|Plaa|phospholipase A2, activating protein [Source:MGI Symbol;Acc:MGI:104810]|Heterozygous||A|G|100|37.0|Non-synonymous|Line Propagating
5200169|IGL01089|7|73409714|V->L|0.79|Possibly damaging|MGI:2679262|Rgma|RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]|Heterozygous||G|T|75|35.0|Non-synonymous|Line Propagating
5200170|IGL01089|5|86906326|V->I||Benign|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||C|T|69|39.0|Non-synonymous|Line Propagating
5200171|IGL01089|11|76003337|E->G|0.41|Benign|MGI:1921480|1700016k19rik|RIKEN cDNA 1700016K19 gene [Source:MGI Symbol;Acc:MGI:1921480]|Heterozygous||A|G|57|37.0|Non-synonymous|Line Propagating
5200172|IGL01089|17|42710158|P->S|1.0|Probably damaging|MGI:2182728|Gpr111|G protein-coupled receptor 111 [Source:MGI Symbol;Acc:MGI:2182728]|Heterozygous||G|A|46|39.5|Non-synonymous|Line Propagating
5200173|IGL01089|8|45348527|L->P|0.97|Probably damaging|MGI:2387177|Fam149a|family with sequence similarity 149, member A [Source:MGI Symbol;Acc:MGI:2387177]|Heterozygous||A|G|46|36.5|Non-synonymous|Line Propagating
5200174|IGL01089|15|55016581|M->V||Benign|MGI:2443028|Taf2|TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:2443028]|Heterozygous||T|C|41|35.0|Non-synonymous|Line Propagating
5200175|IGL01089|6|119320792|R->Q|0.93|Possibly damaging|MGI:2442632, MGI:2141485|Cacna2d4,lrtm2|calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Source:MGI Symbol;Acc:MGI:2442632],leucine-rich repeats and transmembrane domains 2 [Source:MGI Symbol;Acc:MGI:2141485]|Heterozygous|NO_PHENOTYPE,Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction.|C|T|40|39.0|Non-synonymous|Line Propagating
5200176|IGL01089|14|29988335|L->S|1.0|Probably damaging|MGI:1860775|Actr8|ARP8 actin-related protein 8 [Source:MGI Symbol;Acc:MGI:1860775]|Heterozygous||T|C|38|39.0|Non-synonymous|Line Propagating
5200177|IGL01089|6|8234363|Disrupted splicing|||MGI:2182066|Mios|missing oocyte, meiosis regulator, homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2182066]|Heterozygous||T|C|38|36.0|Splice|Line Propagating
5200178|IGL01089|17|81648281|T->A|||MGI:107956|Slc8a1|solute carrier family 8 (sodium/calcium exchanger), member 1 [Source:MGI Symbol;Acc:MGI:107956]|Heterozygous|Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.|T|C|33|35.0|Non-synonymous|Line Propagating
5200179|IGL01089|8|124545243|S->P||Benign|MGI:1923582|Cog2|component of oligomeric golgi complex 2 [Source:MGI Symbol;Acc:MGI:1923582]|Heterozygous||T|C|32|37.0|Non-synonymous|Line Propagating
5200180|IGL01089|7|110348962|I->K|1.0|Probably damaging|MGI:1921831|Sbf2|SET binding factor 2 [Source:MGI Symbol;Acc:MGI:1921831]|Heterozygous|Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.|A|T|29|39.0|Non-synonymous|Line Propagating
5200181|IGL01089|17|81388881|V->A|||MGI:107956|Slc8a1|solute carrier family 8 (sodium/calcium exchanger), member 1 [Source:MGI Symbol;Acc:MGI:107956]|Heterozygous|Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload.|A|G|28|37.5|Non-synonymous|Line Propagating
5200182|IGL01089|9|44707887|K->Stop||N/A|MGI:2143230|Phldb1|pleckstrin homology-like domain, family B, member 1 [Source:MGI Symbol;Acc:MGI:2143230]|Heterozygous||T|A|27|37.0|Non-synonymous|Line Propagating
5200183|IGL01089|1|74731938|Y->F|0.51|Possibly damaging|MGI:88594|Cyp27a1|cytochrome P450, family 27, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88594]|Heterozygous|Mice homozygous for a knock-out allele exhibit signifcantly reduced production of bile acids, up-regulation of cholesterol 7alpha-hydroxylase, increased circulating levels of 7alpha-hydroxycholesterol, and somewhat higher serum 25-hydroxyvitamin D levels.|A|T|26|38.0|Non-synonymous|Line Propagating
5200185|IGL01089|6|38136963|S->P|0.01|Benign|MGI:2669829|D630045j12rik|RIKEN cDNA D630045J12 gene [Source:MGI Symbol;Acc:MGI:2669829]|Heterozygous||A|G|24|37.0|Non-synonymous|Line Propagating
5200186|IGL01089|3|141818202|Disrupted splicing|||MGI:1095412|Unc5c|unc-5 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:1095412]|Heterozygous|Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain.|C|A|21|37.0|Splice|Line Propagating
5200187|IGL01089|12|11091571|T->S|0.93|Possibly damaging|MGI:1098804|Kcns3|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 [Source:MGI Symbol;Acc:MGI:1098804]|Heterozygous||T|A|20|35.0|Non-synonymous|Line Propagating
5200188|IGL01089|9|26881860|N->S||Benign|MGI:2685956|Gm1110|predicted gene 1110 [Source:MGI Symbol;Acc:MGI:2685956]|Heterozygous||T|C|20|37.5|Non-synonymous|Line Propagating
5200189|IGL01089|3|144823522|V->D|0.93|Possibly damaging|MGI:2181989|Clca4|chloride channel calcium activated 4 [Source:MGI Symbol;Acc:MGI:2181989]|Heterozygous||A|T|19|37.0|Non-synonymous|Line Propagating
5200190|IGL01089|1|91168697|V->D|0.01|Benign|MGI:2685663|Rbm44|RNA binding motif protein 44 [Source:MGI Symbol;Acc:MGI:2685663]|Heterozygous||T|A|17|38.0|Non-synonymous|Line Propagating
5200191|IGL01089|4|126684206|Y->C|1.0|Probably damaging|MGI:1347045|Psmb2|proteasome (prosome, macropain) subunit, beta type 2 [Source:MGI Symbol;Acc:MGI:1347045]|Heterozygous||A|G|17|38.0|Non-synonymous|Line Propagating
5200192|IGL01089|13|77020798|E->G|0.21|Benign|MGI:1926021|Mctp1|multiple C2 domains, transmembrane 1 [Source:MGI Symbol;Acc:MGI:1926021]|Heterozygous||A|G|16|38.5|Non-synonymous|Line Propagating
5200193|IGL01089|1|191013390|N->H|0.93|Possibly damaging|MGI:2444881|Mfsd7b|major facilitator superfamily domain containing 7B [Source:MGI Symbol;Acc:MGI:2444881]|Heterozygous|Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background.|T|G|14|40.0|Non-synonymous|Line Propagating
5200194|IGL01089|1|74493046|R->Stop||N/A|MGI:2442483|Usp37|ubiquitin specific peptidase 37 [Source:MGI Symbol;Acc:MGI:2442483]|Heterozygous||G|A|13|37.0|Non-synonymous|Line Propagating
5200195|IGL01089|11|102437848|A->V|0.4|Benign|MGI:2448496|Fam171a2|family with sequence similarity 171, member A2 [Source:MGI Symbol;Acc:MGI:2448496]|Heterozygous||G|A|12|33.0|Non-synonymous|Line Propagating
5200196|IGL01089|15|44483869|Disrupted splicing|||MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||A|G|12|41.0|Splice|Line Propagating
5200197|IGL01089|8|45017857|V->E|0.3|Benign|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|T|A|12|39.0|Non-synonymous|Line Propagating
5200198|IGL01089|14|12215286|H->R|||MGI:97814|Ptprg|protein tyrosine phosphatase, receptor type, G [Source:MGI Symbol;Acc:MGI:97814]|Heterozygous||A|G|10|37.0|Non-synonymous|Line Propagating
5200785|IGL01090|3|28088667|S->P|0.35|Benign|MGI:109585|Pld1|phospholipase D1 [Source:MGI Symbol;Acc:MGI:109585]|Heterozygous||T|C|210|38.0|Non-synonymous|Alive, Line Propagating
5200786|IGL01090|16|36125051|T->A|0.98|Probably damaging|MGI:3524930|Csta|cystatin A [Source:MGI Symbol;Acc:MGI:3524930]|Heterozygous||T|C|208|38.0|Non-synonymous|Alive, Line Propagating
5200787|IGL01090|1|44129291|H->N|0.9|Possibly damaging|MGI:2179809|Bivm|basic, immunoglobulin-like variable motif containing [Source:MGI Symbol;Acc:MGI:2179809]|Heterozygous||C|A|183|39.0|Non-synonymous|Alive, Line Propagating
5200788|IGL01090|13|58409394|S->P|1.0|Probably damaging|MGI:1921636|Rmi1|RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1921636]|Heterozygous|Mice homozygous for a gene trapped allele exhibit decreased weight and increased resistance to diet-induced obesity.|T|C|158|40.0|Non-synonymous|Alive, Line Propagating
5200789|IGL01090|7|46788327|R->H|1.0|Probably damaging|MGI:2180307|Hps5|Hermansky-Pudlak syndrome 5 homolog (human) [Source:MGI Symbol;Acc:MGI:2180307]|Heterozygous|Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis.|C|T|146|38.0|Non-synonymous|Alive, Line Propagating
5200790|IGL01090|8|85081847|D->V|1.0|Probably damaging|MGI:3041257|Bc056474|cDNA sequence BC056474 [Source:MGI Symbol;Acc:MGI:3041257]|Heterozygous||A|T|143|35.0|Non-synonymous|Alive, Line Propagating
5200791|IGL01090|1|87962465|M->L|0.02|Benign|MGI:2443184|Usp40|ubiquitin specific peptidase 40 [Source:MGI Symbol;Acc:MGI:2443184]|Heterozygous||T|A|126|40.0|Non-synonymous|Alive, Line Propagating
5200792|IGL01090|7|126989687|V->A|0.01|Benign|MGI:1925638|Mvp|major vault protein [Source:MGI Symbol;Acc:MGI:1925638]|Heterozygous|Targeted disruption of this gene does not induce hypersensitivity to various cytostatic agents. Homozygotes are viable, healthy and phenotypically normal and exhibit unimpaired dendritic cell maturation and function.|A|G|121|33.0|Non-synonymous|Alive, Line Propagating
5200793|IGL01090|6|70960745|N->K|0.98|Probably damaging|MGI:3511278|Foxi3|forkhead box I3 [Source:MGI Symbol;Acc:MGI:3511278]|Heterozygous||C|A|119|37.0|Non-synonymous|Alive, Line Propagating
5200794|IGL01090|5|136990236|D->G|0.66|Possibly damaging|MGI:1347008|Plod3|procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 [Source:MGI Symbol;Acc:MGI:1347008]|Heterozygous|Homozygous null mice display embryonic lethality, reduced embryonic growth, fragility, and fragmented basement membranes.|A|G|118|35.0|Non-synonymous|Alive, Line Propagating
5200795|IGL01090|17|78347229|V->L|0.99|Probably damaging|MGI:1354756|Crim1|cysteine rich transmembrane BMP regulator 1 (chordin like) [Source:MGI Symbol;Acc:MGI:1354756]|Heterozygous|Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities.|G|T|117|36.0|Non-synonymous|Alive, Line Propagating
5200796|IGL01090|11|51653783|Y->H||Unknown|MGI:2144709|D930048n14rik|RIKEN cDNA D930048N14 gene [Source:MGI Symbol;Acc:MGI:2144709]|Heterozygous||T|C|106|37.5|Non-synonymous|Alive, Line Propagating
5200797|IGL01090|6|42686622|C->F||Benign|MGI:1914665|Fam115a|family with sequence similarity 115, member A [Source:MGI Symbol;Acc:MGI:1914665]|Heterozygous||C|A|105|39.0|Non-synonymous|Alive, Line Propagating
5200798|IGL01090|5|136101993|R->G|0.85|Possibly damaging|MGI:1858600|Rasa4|RAS p21 protein activator 4 [Source:MGI Symbol;Acc:MGI:1858600]|Heterozygous|Mice homozygous for disruptions in this gene display an increased sensitivity to bacterial infections which involves reduced phagocyte function.|A|G|104|38.0|Non-synonymous|Alive, Line Propagating
5200799|IGL01090|2|125394776|Disrupted splicing|||MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|A|G|88|38.0|Splice|Alive, Line Propagating
5200800|IGL01090|7|126796035|H->Q||Benign|MGI:87994|Aldoa|aldolase A, fructose-bisphosphate [Source:MGI Symbol;Acc:MGI:87994]|Heterozygous||A|T|88|38.0|Non-synonymous|Alive, Line Propagating
5200801|IGL01090|7|19136803|Y->C|1.0|Probably damaging|MGI:2444918|Fbxo46|F-box protein 46 [Source:MGI Symbol;Acc:MGI:2444918]|Heterozygous||A|G|86|37.0|Non-synonymous|Alive, Line Propagating
5200802|IGL01090|6|134725949|N->S||Benign|MGI:1917936|Dusp16|dual specificity phosphatase 16 [Source:MGI Symbol;Acc:MGI:1917936]|Heterozygous||T|C|85|38.0|Non-synonymous|Alive, Line Propagating
5200803|IGL01090|2|155206336|V->E|0.83|Possibly damaging|MGI:1202301|Itch|itchy, E3 ubiquitin protein ligase [Source:MGI Symbol;Acc:MGI:1202301]|Heterozygous|The a18H inversion mutation carries a distal breakpoint between exons 1 and 2 of the Itch gene. Mice homozygous for this mutation do not express a functional Itch gene product.|T|A|83|37.0|Non-synonymous|Alive, Line Propagating
5200804|IGL01090|5|86893820|V->F|1.0|Probably damaging|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||C|A|74|38.0|Non-synonymous|Alive, Line Propagating
5200805|IGL01090|12|80199072|Disrupted splicing|||MGI:2137706|Actn1|actinin, alpha 1 [Source:MGI Symbol;Acc:MGI:2137706]|Heterozygous||A|T|72|37.0|Splice|Alive, Line Propagating
5200806|IGL01090|14|20586157|Disrupted splicing|||MGI:1926037|Usp54|ubiquitin specific peptidase 54 [Source:MGI Symbol;Acc:MGI:1926037]|Heterozygous||A|T|71|38.0|Splice|Alive, Line Propagating
5200807|IGL01090|1|165306580|I->T|||MGI:2685054|Gpr161|G protein-coupled receptor 161 [Source:MGI Symbol;Acc:MGI:2685054]|Heterozygous||T|C|67|39.0|Non-synonymous|Alive, Line Propagating
5200808|IGL01090|11|68921952|Disrupted splicing|||MGI:2182079|Odf4|outer dense fiber of sperm tails 4 [Source:MGI Symbol;Acc:MGI:2182079]|Heterozygous||A|G|61|37.0|Splice|Alive, Line Propagating
5200809|IGL01090|1|127930387|Disrupted splicing|||MGI:2445001|Rab3gap1|RAB3 GTPase activating protein subunit 1 [Source:MGI Symbol;Acc:MGI:2445001]|Heterozygous|Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology.|T|C|59|39.0|Splice|Alive, Line Propagating
5200810|IGL01090|6|91919118|S->P|0.74|Possibly damaging|MGI:2685917|4930590j08rik|RIKEN cDNA 4930590J08 gene [Source:MGI Symbol;Acc:MGI:2685917]|Heterozygous||T|C|57|37.0|Non-synonymous|Alive, Line Propagating
5200811|IGL01090|5|123279989|Disrupted splicing|||MGI:1918495|Wdr66|WD repeat domain 66 [Source:MGI Symbol;Acc:MGI:1918495]|Heterozygous||A|C|54|39.0|Splice|Alive, Line Propagating
5200812|IGL01090|3|123482739|V->A|0.91|Possibly damaging|MGI:1100881|Prss12|protease, serine, 12 neurotrypsin (motopsin) [Source:MGI Symbol;Acc:MGI:1100881]|Heterozygous|Mice homozygous for a targeted mutation display hypoactivity and increased anxiety.|T|C|53|37.0|Non-synonymous|Alive, Line Propagating
5200813|IGL01090|9|18876242|K->R||Benign|MGI:3030664|Olfr830|olfactory receptor 830 [Source:MGI Symbol;Acc:MGI:3030664]|Heterozygous||A|G|52|39.5|Non-synonymous|Alive, Line Propagating
5200814|IGL01090|3|154939683|Q->K|0.07|Benign|MGI:2443276|Tnni3k|TNNI3 interacting kinase [Source:MGI Symbol;Acc:MGI:2443276]|Heterozygous||G|T|51|37.0|Non-synonymous|Alive, Line Propagating
5200815|IGL01090|10|130497378|M->T|0.99|Probably damaging|MGI:3645796|Vmn2r87|vomeronasal 2, receptor 87 [Source:MGI Symbol;Acc:MGI:3645796]|Heterozygous||A|G|50|40.0|Non-synonymous|Alive, Line Propagating
5200816|IGL01090|7|12600908|E->G|1.0|Probably damaging|MGI:3644480|Vmn2r53|vomeronasal 2, receptor 53 [Source:MGI Symbol;Acc:MGI:3644480]|Heterozygous||T|C|49|35.0|Non-synonymous|Alive, Line Propagating
5200817|IGL01090|9|66469175|Q->Stop||N/A|MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|C|T|49|39.0|Non-synonymous|Alive, Line Propagating
5200818|IGL01090|4|64000080|Q->R|0.93|Possibly damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|T|C|47|37.0|Non-synonymous|Alive, Line Propagating
5200819|IGL01090|2|162966005|P->H|1.0|Probably damaging|MGI:2676663|L3mbtl1|l(3)mbt-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2676663]|Heterozygous||C|A|44|37.0|Non-synonymous|Alive, Line Propagating
5200820|IGL01090|15|27773007|E->V|0.92|Possibly damaging|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|T|A|43|35.0|Non-synonymous|Alive, Line Propagating
5200821|IGL01090|7|75666531|D->E|0.01|Benign|MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||T|A|42|39.0|Non-synonymous|Alive, Line Propagating
5200822|IGL01090|17|57047233|I->T||Benign|MGI:1914222|Slc25a23|solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 [Source:MGI Symbol;Acc:MGI:1914222]|Heterozygous||A|G|40|36.0|Non-synonymous|Alive, Line Propagating
5200823|IGL01090|8|3719482|S->P|1.0|Probably damaging|MGI:1923113|Clec4g|C-type lectin domain family 4, member g [Source:MGI Symbol;Acc:MGI:1923113]|Heterozygous||A|G|38|39.5|Non-synonymous|Alive, Line Propagating
5200824|IGL01090|6|48490125|S->T|1.0|Probably damaging|MGI:2674311|Sspo|SCO-spondin [Source:MGI Symbol;Acc:MGI:2674311]|Heterozygous||T|A|36|36.0|Non-synonymous|Alive, Line Propagating
5200825|IGL01090|5|103541314|L->Q|||MGI:103293|Ptpn13|protein tyrosine phosphatase, non-receptor type 13 [Source:MGI Symbol;Acc:MGI:103293]|Heterozygous|Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation.|T|A|35|37.0|Non-synonymous|Alive, Line Propagating
5200826|IGL01090|6|34799887|Y->H|0.02|Benign|MGI:1923473|Agbl3|ATP/GTP binding protein-like 3 [Source:MGI Symbol;Acc:MGI:1923473]|Heterozygous||T|C|34|36.5|Non-synonymous|Alive, Line Propagating
5200827|IGL01090|1|59215616|K->R|0.94|Possibly damaging|MGI:1921268|Als2|amyotrophic lateral sclerosis 2 (juvenile) [Source:MGI Symbol;Acc:MGI:1921268]|Heterozygous|Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract.|T|C|31|39.0|Non-synonymous|Alive, Line Propagating
5200828|IGL01090|7|13405487|E->K|0.98|Probably damaging|MGI:1352746|Cabp5|calcium binding protein 5 [Source:MGI Symbol;Acc:MGI:1352746]|Heterozygous||G|A|31|39.0|Non-synonymous|Alive, Line Propagating
5200829|IGL01090|1|162809785|Disrupted splicing|||MGI:2429497|Fmo4|flavin containing monooxygenase 4 [Source:MGI Symbol;Acc:MGI:2429497]|Heterozygous||C|A|29|39.0|Splice|Alive, Line Propagating
5200830|IGL01090|7|7294036|V->A||Benign|MGI:104571|Clcn4-2|chloride channel 4-2 [Source:MGI Symbol;Acc:MGI:104571]|Heterozygous|Mice homozygous for a knock-out allele exhibit no obvious phenotype.|A|G|28|36.5|Non-synonymous|Alive, Line Propagating
5200831|IGL01090|11|79296384|L->P||Unknown|MGI:3642605|Gm9964|predicted gene 9964 [Source:MGI Symbol;Acc:MGI:3642605]|Heterozygous||A|G|24|36.0|Non-synonymous|Alive, Line Propagating
5200833|IGL01090|7|16216256|P->Q|1.0|Probably damaging|MGI:1918973|Dhx34|DEAH (Asp-Glu-Ala-His) box polypeptide 34 [Source:MGI Symbol;Acc:MGI:1918973]|Heterozygous||G|T|18|39.0|Non-synonymous|Alive, Line Propagating
5200834|IGL01090|4|57240833|I->F|1.0|Probably damaging|MGI:105307|Ptpn3|protein tyrosine phosphatase, non-receptor type 3 [Source:MGI Symbol;Acc:MGI:105307]|Heterozygous|Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content.|T|A|15|39.0|Non-synonymous|Alive, Line Propagating
5201418|IGL01092|1|120113477|K->E|0.15|Benign|MGI:94865|Dbi|diazepam binding inhibitor [Source:MGI Symbol;Acc:MGI:94865]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal fur and skin morphology at P16 and impaired metabolic changes at weaning with reduced growth and hepatic cholesterol synthesis.|T|C|176|38.0|Non-synonymous|Line Propagating
5201419|IGL01092|16|21928016|T->S|0.88|Possibly damaging|MGI:2444243|Map3k13|mitogen-activated protein kinase kinase kinase 13 [Source:MGI Symbol;Acc:MGI:2444243]|Heterozygous||A|T|162|37.0|Non-synonymous|Line Propagating
5201420|IGL01092|7|90247105|D->E||Benign|MGI:1918255|Ccdc83|coiled-coil domain containing 83 [Source:MGI Symbol;Acc:MGI:1918255]|Heterozygous||A|T|134|38.0|Non-synonymous|Line Propagating
5201421|IGL01092|7|45377377|D->G|0.98|Probably damaging|MGI:98341|Snrnp70|small nuclear ribonucleoprotein 70 (U1) [Source:MGI Symbol;Acc:MGI:98341]|Heterozygous||T|C|91|36.0|Non-synonymous|Line Propagating
5201422|IGL01092|5|68110562|Disrupted splicing|||MGI:3577767|Grxcr1|glutaredoxin, cysteine rich 1 [Source:MGI Symbol;Acc:MGI:3577767]|Heterozygous||T|C|86|37.5|Splice|Line Propagating
5201423|IGL01092|7|30580507|Y->C|1.0|Probably damaging|MGI:109565|Wbp7|WW domain binding protein 7 [Source:MGI Symbol;Acc:MGI:109565]|Heterozygous||T|C|85|39.0|Non-synonymous|Line Propagating
5201424|IGL01092|4|118753762|I->F|0.58|Possibly damaging|MGI:3031172|Olfr1338|olfactory receptor 1338 [Source:MGI Symbol;Acc:MGI:3031172]|Heterozygous||T|A|83|39.0|Non-synonymous|Line Propagating
5201425|IGL01092|9|86598748|V->D|1.0|Probably damaging|MGI:97043|Me1|malic enzyme 1, NADP(+)-dependent, cytosolic [Source:MGI Symbol;Acc:MGI:97043]|Heterozygous||A|T|79|39.0|Non-synonymous|Line Propagating
5201426|IGL01092|17|24701905|Disrupted splicing|||MGI:2384863|Tbl3|transducin (beta)-like 3 [Source:MGI Symbol;Acc:MGI:2384863]|Heterozygous||T|C|73|37.0|Splice|Line Propagating
5201427|IGL01092|9|38594905|I->R|0.97|Probably damaging|MGI:3030747|Olfr913|olfactory receptor 913 [Source:MGI Symbol;Acc:MGI:3030747]|Heterozygous||T|G|67|38.0|Non-synonymous|Line Propagating
5201428|IGL01092|19|6955322|E->V|0.07|Benign|MGI:104778|Plcb3|phospholipase C, beta 3 [Source:MGI Symbol;Acc:MGI:104778]|Heterozygous|Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids.|T|A|60|31.5|Non-synonymous|Line Propagating
5201429|IGL01092|11|3684042|V->A||Benign|MGI:1921772|Morc2a|microrchidia 2A [Source:MGI Symbol;Acc:MGI:1921772]|Heterozygous||T|C|54|37.0|Non-synonymous|Line Propagating
5201430|IGL01092|2|40750947|C->Y|1.0|Probably damaging|MGI:2151136|Lrp1b|low density lipoprotein-related protein 1B (deleted in tumors) [Source:MGI Symbol;Acc:MGI:2151136]|Heterozygous|Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.|C|T|51|39.0|Non-synonymous|Line Propagating
5201431|IGL01092|5|107578512|L->Q|1.0|Probably damaging|MGI:2141180|Glmn|glomulin, FKBP associated protein [Source:MGI Symbol;Acc:MGI:2141180]|Heterozygous||A|T|51|37.0|Non-synonymous|Line Propagating
5201432|IGL01092|13|103834012|N->S|1.0|Probably damaging|MGI:1890169|Erbb2ip|Erbb2 interacting protein [Source:MGI Symbol;Acc:MGI:1890169]|Heterozygous|Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli.|T|C|44|38.5|Non-synonymous|Line Propagating
5201433|IGL01092|14|54971632|E->G|1.0|Probably damaging|MGI:2155600, MGI:3642848|Myh7,d830015g02rik|Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q8BWC8],myosin, heavy polypeptide 7, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:2155600]|Heterozygous||T|C|42|34.0|Non-synonymous|Line Propagating
5201434|IGL01092|14|30909781|K->I|0.98|Probably damaging|MGI:96620|Itih3|inter-alpha trypsin inhibitor, heavy chain 3 [Source:MGI Symbol;Acc:MGI:96620]|Heterozygous||T|A|38|38.0|Non-synonymous|Line Propagating
5201435|IGL01092|11|117721985|V->A|0.97|Probably damaging|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||T|C|35|38.0|Non-synonymous|Line Propagating
5201436|IGL01092|12|50383515|Disrupted splicing|||MGI:99879|Prkd1|protein kinase D1 [Source:MGI Symbol;Acc:MGI:99879]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality.|T|C|35|38.0|Splice|Line Propagating
5201437|IGL01092|2|131079217|I->N|||MGI:99668|Siglec1|sialic acid binding Ig-like lectin 1, sialoadhesin [Source:MGI Symbol;Acc:MGI:99668]|Heterozygous|Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels.|A|T|34|35.5|Non-synonymous|Line Propagating
5201438|IGL01092|7|30529946|R->G|1.0|Probably damaging|MGI:2673998|Arhgap33|Rho GTPase activating protein 33 [Source:MGI Symbol;Acc:MGI:2673998]|Heterozygous||T|C|34|31.0|Non-synonymous|Line Propagating
5201439|IGL01092|9|113680181|Disrupted splicing|||MGI:1333753|Pdcd6ip|programmed cell death 6 interacting protein [Source:MGI Symbol;Acc:MGI:1333753]|Heterozygous||A|G|34|38.0|Splice|Line Propagating
5201440|IGL01092|8|47544112|T->M|0.34|Benign|MGI:2681000|Rwdd4a|RWD domain containing 4A [Source:MGI Symbol;Acc:MGI:2681000]|Heterozygous||C|T|32|35.5|Non-synonymous|Line Propagating
5201441|IGL01092|7|73441686|H->Q||Benign|MGI:2448567|Chd2|chromodomain helicase DNA binding protein 2 [Source:MGI Symbol;Acc:MGI:2448567]|Heterozygous|Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects.|A|T|28|35.5|Non-synonymous|Line Propagating
5201442|IGL01092|17|88644443|E->G||Benign|MGI:1924307|Ston1|stonin 1 [Source:MGI Symbol;Acc:MGI:1924307]|Heterozygous||A|G|25|37.0|Non-synonymous|Line Propagating
5201443|IGL01092|3|90237738|E->G|1.0|Probably damaging|MGI:1916603|Creb3l4|cAMP responsive element binding protein 3-like 4 [Source:MGI Symbol;Acc:MGI:1916603]|Heterozygous|Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.|T|C|24|36.5|Non-synonymous|Line Propagating
5201444|IGL01092|8|124545280|D->G|1.0|Probably damaging|MGI:1923582|Cog2|component of oligomeric golgi complex 2 [Source:MGI Symbol;Acc:MGI:1923582]|Heterozygous||A|G|23|35.0|Non-synonymous|Line Propagating
5201445|IGL01092|13|42303671|D->G|1.0|Probably damaging|MGI:95283|Edn1|endothelin 1 [Source:MGI Symbol;Acc:MGI:95283]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure.|A|G|20|34.5|Non-synonymous|Line Propagating
5201446|IGL01092|2|130947636|R->Stop||N/A|MGI:1341628|Atrn|attractin [Source:MGI Symbol;Acc:MGI:1341628]|Heterozygous|Some mutant homozygotes exhibit decreases in pheomelanin synthesis, body weight, and adiposity; increases in locomotion, and abnormal myelination and vacuolation of the central nervous system resulting in tremors.|A|T|20|40.0|Non-synonymous|Line Propagating
5201447|IGL01092|2|145919948|K->R||Benign|MGI:1914127|Crnkl1|Crn, crooked neck-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1914127]|Heterozygous||T|C|20|38.0|Non-synonymous|Line Propagating
5201448|IGL01092|12|5017987|S->L|1.0|Probably damaging|MGI:2444798|Atad2b|ATPase family, AAA domain containing 2B [Source:MGI Symbol;Acc:MGI:2444798]|Heterozygous||C|T|19|39.0|Non-synonymous|Line Propagating
5201450|IGL01092|17|24705252|I->N|1.0|Probably damaging|MGI:2384863|Tbl3|transducin (beta)-like 3 [Source:MGI Symbol;Acc:MGI:2384863]|Heterozygous||A|T|16|33.0|Non-synonymous|Line Propagating
5201451|IGL01092|4|140977480|C->G|1.0|Probably damaging|MGI:1914930|Sdhb|succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Source:MGI Symbol;Acc:MGI:1914930]|Heterozygous||T|G|12|37.0|Non-synonymous|Line Propagating
5201452|IGL01092|2|28453860|Disrupted splicing|||MGI:2685193|Ppp1r26|protein phosphatase 1, regulatory subunit 26 [Source:MGI Symbol;Acc:MGI:2685193]|Heterozygous||C|T|11|37.0|Splice|Line Propagating
5201453|IGL01092|14|45303586|D->G|0.19|Benign|MGI:1354385|Ero1l|ERO1-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1354385]|Heterozygous|Mice homozygous for a gene trapped allele exhibit decreased apoptosis and calcium release in macrophages exposed to endoplasmic reticulum stress.|T|C|10|40.0|Non-synonymous|Line Propagating
5202047|IGL01093|2|36568826|V->G|0.99|Probably damaging|MGI:3030178|Olfr344|olfactory receptor 344 [Source:MGI Symbol;Acc:MGI:3030178]|Heterozygous||T|G|88|37.5|Non-synonymous|Line Propagating
5202048|IGL01093|7|108103644|S->T||Benign|MGI:3030317|Olfr483|olfactory receptor 483 [Source:MGI Symbol;Acc:MGI:3030317]|Heterozygous||T|A|58|35.0|Non-synonymous|Line Propagating
5202049|IGL01093|3|93202371|S->P||Unknown|MGI:3645678|Flg2|filaggrin family member 2 [Source:MGI Symbol;Acc:MGI:3645678]|Heterozygous||T|C|45|37.0|Non-synonymous|Line Propagating
5202050|IGL01093|18|37825036|T->A|0.15|Benign|MGI:1935229, MGI:1935205, MGI:1935226, MGI:1935197, MGI:1935215|Pcdhga12,pcdhgb6,pcdhgc5,pcdhga9,pcdhga3|protocadherin gamma subfamily A, 3 [Source:MGI Symbol;Acc:MGI:1935215]|Heterozygous||A|G|40|37.0|Non-synonymous|Line Propagating
5202051|IGL01093|10|130033892|T->A|0.22|Benign|MGI:3030655|Olfr821|olfactory receptor 821 [Source:MGI Symbol;Acc:MGI:3030655]|Heterozygous||A|G|35|38.0|Non-synonymous|Line Propagating
5202052|IGL01093|17|20502819|D->V|0.99|Probably damaging|MGI:2159626|Vmn1r225|vomeronasal 1 receptor 225 [Source:MGI Symbol;Acc:MGI:2159626]|Heterozygous||A|T|31|38.0|Non-synonymous|Line Propagating
5202053|IGL01093|17|22343634|Disrupted splicing|||MGI:2442394|Zfp944|zinc finger protein 944 [Source:MGI Symbol;Acc:MGI:2442394]|Heterozygous||A|G|30|34.0|Splice|Line Propagating
5202054|IGL01093|9|109604973|Q->L||Benign|MGI:3646659|Fbxw24|F-box and WD-40 domain protein 24 [Source:MGI Symbol;Acc:MGI:3646659]|Heterozygous||T|A|30|38.0|Non-synonymous|Line Propagating
5202055|IGL01093|2|130777236|T->A|0.01|Benign|MGI:1923029|4930402h24rik|RIKEN cDNA 4930402H24 gene [Source:MGI Symbol;Acc:MGI:1923029]|Heterozygous||T|C|29|38.0|Non-synonymous|Line Propagating
5202056|IGL01093|10|129625563|F->C|1.0|Probably damaging|MGI:3030632|Olfr798|olfactory receptor 798 [Source:MGI Symbol;Acc:MGI:3030632]|Heterozygous||A|C|27|38.0|Non-synonymous|Line Propagating
5202057|IGL01093|1|155099393|I->T|0.98|Probably damaging|MGI:1337072|Ier5|immediate early response 5 [Source:MGI Symbol;Acc:MGI:1337072]|Heterozygous||A|G|24|36.0|Non-synonymous|Line Propagating
5202058|IGL01093|8|63348959|R->Q||Benign|MGI:1920152|Spock3|sparc/osteonectin, cwcv and kazal-like domains proteoglycan 3 [Source:MGI Symbol;Acc:MGI:1920152]|Heterozygous||G|A|24|38.0|Non-synonymous|Line Propagating
5202059|IGL01093|9|7145611|R->G|0.01|Benign|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|T|C|23|38.0|Non-synonymous|Line Propagating
5202060|IGL01093|13|4581140|Disrupted splicing|||MGI:1924587|Akr1c21|aldo-keto reductase family 1, member C21 [Source:MGI Symbol;Acc:MGI:1924587]|Heterozygous||C|T|22|38.0|Splice|Line Propagating
5202061|IGL01093|6|118465839|A->T|0.01|Benign|MGI:99210|Zfp9|zinc finger protein 9 [Source:MGI Symbol;Acc:MGI:99210]|Heterozygous||C|T|21|37.0|Non-synonymous|Line Propagating
5202062|IGL01093|2|65098237|E->G|1.0|Probably damaging|MGI:2442894|Cobll1|Cobl-like 1 [Source:MGI Symbol;Acc:MGI:2442894]|Heterozygous||T|C|20|39.0|Non-synonymous|Line Propagating
5202063|IGL01093|4|149330269|I->V|0.08|Benign|MGI:1927086|Ube4b|ubiquitination factor E4B, UFD2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1927086]|Heterozygous|Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities.|T|C|19|35.0|Non-synonymous|Line Propagating
5202064|IGL01093|18|65349329|L->P|||MGI:2449492|Alpk2|alpha-kinase 2 [Source:MGI Symbol;Acc:MGI:2449492]|Heterozygous||A|G|18|34.0|Non-synonymous|Line Propagating
5202065|IGL01093|9|20909785|E->K|0.89|Possibly damaging|MGI:94912|Dnmt1|DNA methyltransferase (cytosine-5) 1 [Source:MGI Symbol;Acc:MGI:94912]|Heterozygous|Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci.|C|T|18|37.0|Non-synonymous|Line Propagating
5202066|IGL01093|10|77932280|I->T||Benign|MGI:1351901|Trpm2|transient receptor potential cation channel, subfamily M, member 2 [Source:MGI Symbol;Acc:MGI:1351901]|Heterozygous|Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.|A|G|17|39.0|Non-synonymous|Line Propagating
5202067|IGL01093|8|22939321|D->G|||MGI:2442415|Myst3|MYST histone acetyltransferase (monocytic leukemia) 3 [Source:MGI Symbol;Acc:MGI:2442415]|Heterozygous|Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility.|A|G|15|34.0|Non-synonymous|Line Propagating
5202068|IGL01093|17|57223949|P->Q|1.0|Probably damaging|MGI:88227|C3|complement component 3 [Source:MGI Symbol;Acc:MGI:88227]|Heterozygous|Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.|G|T|14|37.5|Non-synonymous|Line Propagating
5202069|IGL01093|2|87711133|M->L|0.01|Benign|MGI:3030971|Olfr1137|olfactory receptor 1137 [Source:MGI Symbol;Acc:MGI:3030971]|Heterozygous||T|G|14|39.5|Non-synonymous|Line Propagating
5202070|IGL01093|2|125740325|K->N||Benign|MGI:1917604|Secisbp2l|SECIS binding protein 2-like [Source:MGI Symbol;Acc:MGI:1917604]|Heterozygous||C|A|14|34.5|Non-synonymous|Line Propagating
5202071|IGL01093|7|11009617|C->Y|0.09|Benign|MGI:2685243|Zscan4c|zinc finger and SCAN domain containing 4C [Source:MGI Symbol;Acc:MGI:2685243]|Heterozygous||G|A|14|37.0|Non-synonymous|Line Propagating
5202072|IGL01093|2|52095948|H->Q|0.04|Benign|MGI:1098622|Rif1|Rap1 interacting factor 1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1098622]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation.|T|G|13|38.0|Non-synonymous|Line Propagating
5202073|IGL01093|10|128048113|S->G|0.27|Benign|MGI:106095|Naca|nascent polypeptide-associated complex alpha polypeptide [Source:MGI Symbol;Acc:MGI:106095]|Heterozygous|Mice homozygous for a point mutation exhibit decreased bone volume and bone formation associated with accelerated mineralization and immature woven-bone formation. Mice null for the muscle specific isoform die during organogenesis with cardiac abnormalities.|A|G|12|38.0|Non-synonymous|Line Propagating
5202074|IGL01093|2|25660717|V->A|0.02|Benign|MGI:1277241|Lcn5|lipocalin 5 [Source:MGI Symbol;Acc:MGI:1277241]|Heterozygous||T|C|12|32.5|Non-synonymous|Line Propagating
5202075|IGL01093|11|8901345|T->A|1.0|Probably damaging|MGI:2156538|Pkd1l1|polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]|Heterozygous|Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.|T|C|11|38.0|Non-synonymous|Line Propagating
5202076|IGL01093|15|81436768|Y->N|0.95|Possibly damaging|MGI:2445217|Xpnpep3|X-prolyl aminopeptidase (aminopeptidase P) 3, putative [Source:MGI Symbol;Acc:MGI:2445217]|Heterozygous||T|A|10|35.5|Non-synonymous|Line Propagating
5202639|IGL01094|9|109493546|S->P|||MGI:3505706|Fbxw19|F-box and WD-40 domain protein 19 [Source:MGI Symbol;Acc:MGI:3505706]|Heterozygous||A|G|85|37.0|Non-synonymous|Alive
5202640|IGL01094|5|75961760|Y->N||Benign|MGI:96683|Kdr|kinase insert domain protein receptor [Source:MGI Symbol;Acc:MGI:96683]|Heterozygous|Homozygous mice die at early embryonic stages due to failure of blood vessel formation.|A|T|62|37.0|Non-synonymous|Alive
5202641|IGL01094|3|59093655|L->H|0.94|Possibly damaging|MGI:2139916|Med12l|mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)-like [Source:MGI Symbol;Acc:MGI:2139916]|Heterozygous||T|A|58|37.0|Non-synonymous|Alive
5202642|IGL01094|2|180999766|C->Y|0.99|Probably damaging|MGI:1920618|Col20a1|collagen, type XX, alpha 1 [Source:MGI Symbol;Acc:MGI:1920618]|Heterozygous||G|A|37|35.0|Non-synonymous|Alive
5202643|IGL01094|1|177784942|H->Q|1.0|Probably damaging|MGI:87948|Adss|adenylosuccinate synthetase, non muscle [Source:MGI Symbol;Acc:MGI:87948]|Heterozygous||A|T|35|38.0|Non-synonymous|Alive
5202644|IGL01094|2|89493838|V->A|0.01|Benign|MGI:3031076|Olfr1242|olfactory receptor 1242 [Source:MGI Symbol;Acc:MGI:3031076]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive
5202645|IGL01094|4|135751084|P->T|0.8|Possibly damaging|MGI:2663588|Il22ra1|interleukin 22 receptor, alpha 1 [Source:MGI Symbol;Acc:MGI:2663588]|Heterozygous||C|A|30|35.0|Non-synonymous|Alive
5202646|IGL01094|15|44546929|F->L|0.07|Benign|MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||T|C|29|37.0|Non-synonymous|Alive
5202647|IGL01094|1|66695433|D->G|0.98|Probably damaging|MGI:2652882|Unc80|unc-80 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2652882]|Heterozygous||A|G|27|36.0|Non-synonymous|Alive
5202648|IGL01094|16|32405954|N->S|0.45|Possibly damaging|MGI:3645933|Tm4sf19|transmembrane 4 L six family member 19 [Source:MGI Symbol;Acc:MGI:3645933]|Heterozygous||A|G|25|39.0|Non-synonymous|Alive
5202649|IGL01094|17|29526592|R->G||Benign|MGI:3646280|Tmem217|transmembrane protein 217 [Source:MGI Symbol;Acc:MGI:3646280]|Heterozygous||T|C|25|37.0|Non-synonymous|Alive
5202650|IGL01094|6|41443423|V->A|0.95|Possibly damaging|MGI:3641889|Gm10334|predicted gene 10334 [Source:MGI Symbol;Acc:MGI:3641889]|Heterozygous||A|G|24|35.0|Non-synonymous|Alive
5202651|IGL01094|12|9005838|Disrupted splicing|||MGI:1921932|Wdr35|WD repeat domain 35 [Source:MGI Symbol;Acc:MGI:1921932]|Heterozygous||T|C|22|38.5|Splice|Alive
5202652|IGL01094|11|70541306|C->R|0.98|Probably damaging|MGI:892877|Pld2|phospholipase D2 [Source:MGI Symbol;Acc:MGI:892877]|Heterozygous|Mice homozygous for a targeted allele fail to exhibit Abeta42 suppression of LTP and altered brain phosphatidic acid levels.|T|C|21|37.0|Non-synonymous|Alive
5202653|IGL01094|5|74531046|P->T|0.98|Probably damaging|MGI:2443446|Scfd2|Sec1 family domain containing 2 [Source:MGI Symbol;Acc:MGI:2443446]|Heterozygous||G|T|21|38.0|Non-synonymous|Alive
5202654|IGL01094|1|90803933|I->L|||MGI:88461|Col6a3|collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]|Heterozygous||T|G|20|35.5|Non-synonymous|Alive
5202655|IGL01094|15|9507999|N->K|0.65|Possibly damaging|MGI:96562|Il7r|interleukin 7 receptor [Source:MGI Symbol;Acc:MGI:96562]|Heterozygous||A|T|20|36.5|Non-synonymous|Alive
5202656|IGL01094|8|122482138|E->D|0.83|Possibly damaging|MGI:3603204, MGI:5141853|Fam38a,gm20388|family with sequence similarity 38, member A [Source:MGI Symbol;Acc:MGI:3603204],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||T|A|20|35.5|Non-synonymous|Alive
5202657|IGL01094|6|84194386|I->N|1.0|Probably damaging|MGI:1349385|Dysf|dysferlin [Source:MGI Symbol;Acc:MGI:1349385]|Heterozygous|Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.|T|A|17|33.0|Non-synonymous|Alive
5202658|IGL01094|2|130260166|Disrupted splicing|||MGI:2151017|Tmc2|transmembrane channel-like gene family 2 [Source:MGI Symbol;Acc:MGI:2151017]|Heterozygous||T|C|16|38.5|Splice|Alive
5202659|IGL01094|9|67886284|N->D|0.99|Probably damaging|MGI:2444207|Vps13c|vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]|Heterozygous||A|G|16|39.0|Non-synonymous|Alive
5202660|IGL01094|10|20972060|N->D|0.08|Benign|MGI:87971|Ahi1|Abelson helper integration site 1 [Source:MGI Symbol;Acc:MGI:87971]|Heterozygous|Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology.|A|G|13|40.0|Non-synonymous|Alive
5202661|IGL01094|7|24502759|L->P|1.0|Probably damaging|MGI:2449088|Cadm4|cell adhesion molecule 4 [Source:MGI Symbol;Acc:MGI:2449088]|Heterozygous||T|C|12|38.5|Non-synonymous|Alive
5202662|IGL01094|1|184037500|E->V|0.9|Possibly damaging|MGI:1927070|Dusp10|dual specificity phosphatase 10 [Source:MGI Symbol;Acc:MGI:1927070]|Heterozygous|Mice homozygous for a knock-out allele display alterations in both innate and adaptive immune responses.|A|T|11|38.0|Non-synonymous|Alive
5202663|IGL01094|11|108923675|V->M|0.85|Possibly damaging|MGI:1270862|Axin2|axin2 [Source:MGI Symbol;Acc:MGI:1270862]|Heterozygous|Homozygous mutant mice exhibit premature fusion of cranial sutures, enhanced expansion of oseoprogenitors, accelerated ossification, and increased osteoblast proliferation and differentiation.|G|A|10|35.0|Non-synonymous|Alive
5202664|IGL01094|18|65306602|E->D|||MGI:2449492|Alpk2|alpha-kinase 2 [Source:MGI Symbol;Acc:MGI:2449492]|Heterozygous||T|G|10|35.5|Non-synonymous|Alive
5202665|IGL01094|5|72550428|Disrupted splicing|||MGI:1923646|Nfxl1|nuclear transcription factor, X-box binding-like 1 [Source:MGI Symbol;Acc:MGI:1923646]|Heterozygous||A|G|10|40.0|Splice|Alive
5202666|IGL01094|7|12849796|H->Q|1.0|Probably damaging|MGI:1890378|Zfp110|zinc finger protein 110 [Source:MGI Symbol;Acc:MGI:1890378]|Heterozygous|Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally.|T|A|10|36.5|Non-synonymous|Alive
5203227|IGL01095|9|38430515|I->V||Benign|MGI:3030735|Olfr901|olfactory receptor 901 [Source:MGI Symbol;Acc:MGI:3030735]|Heterozygous||A|G|377|38.0|Non-synonymous|Line Propagating
5203228|IGL01095|8|43626096|I->L|0.14|Benign|MGI:3647273|Gm5346|predicted gene 5346 [Source:MGI Symbol;Acc:MGI:3647273]|Heterozygous||T|A|214|39.0|Non-synonymous|Line Propagating
5203229|IGL01095|10|129647629|D->G||Benign|MGI:3030633|Olfr799|olfactory receptor 799 [Source:MGI Symbol;Acc:MGI:3030633]|Heterozygous||A|G|210|37.0|Non-synonymous|Line Propagating
5203230|IGL01095|7|139845654|T->A|0.79|Possibly damaging|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||A|G|165|35.0|Non-synonymous|Line Propagating
5203231|IGL01095|11|101524369|P->S|0.06|Benign|MGI:104537|Brca1|breast cancer 1 [Source:MGI Symbol;Acc:MGI:104537]|Heterozygous|Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence.|G|A|160|39.0|Non-synonymous|Line Propagating
5203232|IGL01095|2|69492432|Y->Stop||N/A|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|A|T|142|35.5|Non-synonymous|Line Propagating
5203233|IGL01095|2|111306621|R->G|0.17|Benign|MGI:3031113|Olfr1279|olfactory receptor 1279 [Source:MGI Symbol;Acc:MGI:3031113]|Heterozygous||A|G|123|39.0|Non-synonymous|Line Propagating
5203234|IGL01095|1|43131681|Y->N|0.04|Benign|MGI:1338762|Fhl2|four and a half LIM domains 2 [Source:MGI Symbol;Acc:MGI:1338762]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal cardiac development and physiology.|A|T|117|35.0|Non-synonymous|Line Propagating
5203235|IGL01095|4|94967869|Disrupted splicing|||MGI:2444584|Mysm1|myb-like, SWIRM and MPN domains 1 [Source:MGI Symbol;Acc:MGI:2444584]|Heterozygous||C|T|115|39.0|Splice|Line Propagating
5203236|IGL01095|9|39942680|V->A|0.16|Benign|MGI:3030808|Olfr974|olfactory receptor 974 [Source:MGI Symbol;Acc:MGI:3030808]|Heterozygous||T|C|109|37.0|Non-synonymous|Line Propagating
5203237|IGL01095|11|49112853|Y->S|1.0|Probably damaging|MGI:3031230|Olfr1396|olfactory receptor 1396 [Source:MGI Symbol;Acc:MGI:3031230]|Heterozygous||T|G|103|38.0|Non-synonymous|Line Propagating
5203238|IGL01095|6|30642969|I->F|0.06|Benign|MGI:88478|Cpa1|carboxypeptidase A1, pancreatic [Source:MGI Symbol;Acc:MGI:88478]|Heterozygous|Mice homozygous for a knock-in allele are viable and fertile.|A|T|101|36.0|Non-synonymous|Line Propagating
5203239|IGL01095|7|141530229|V->A|0.92|Possibly damaging|MGI:1915288|Chid1|chitinase domain containing 1 [Source:MGI Symbol;Acc:MGI:1915288]|Heterozygous||A|G|93|37.0|Non-synonymous|Line Propagating
5203240|IGL01095|1|174213485|N->D||Benign|MGI:98385|Spna1|spectrin alpha 1 [Source:MGI Symbol;Acc:MGI:98385]|Heterozygous|Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition.|A|G|82|38.0|Non-synonymous|Line Propagating
5203241|IGL01095|11|59964291|I->T|1.0|Probably damaging|MGI:1270848|Rasd1|RAS, dexamethasone-induced 1 [Source:MGI Symbol;Acc:MGI:1270848]|Heterozygous|Mice homozygous for disruptions in this gene have a reduced ability to entrain to low intensity light with resulting abnormalities in circadian rhythm.|A|G|80|36.0|Non-synonymous|Line Propagating
5203242|IGL01095|14|69700028|E->G|0.98|Probably damaging|MGI:1919093|R3hcc1|R3H domain and coiled-coil containing 1 [Source:MGI Symbol;Acc:MGI:1919093]|Heterozygous||T|C|70|37.0|Non-synonymous|Line Propagating
5203243|IGL01095|9|50579329|D->V|1.0|Probably damaging|MGI:107936|Il18|interleukin 18 [Source:MGI Symbol;Acc:MGI:107936]|Heterozygous|Mice homozygous for null alleles are deficient in producing IFN-gamma in response to infectious agents and have other impairments of the immune system.|A|T|70|36.5|Non-synonymous|Line Propagating
5203244|IGL01095|2|62524201|T->I|0.87|Possibly damaging|MGI:109608|Fap|fibroblast activation protein [Source:MGI Symbol;Acc:MGI:109608]|Heterozygous|Mice homozygous for a targeted null mutations exhibit no discernable phenotype; mice are viable and fertile with no change in cancer susceptibility.|G|A|63|37.0|Non-synonymous|Line Propagating
5203245|IGL01095|2|115864424|T->A||Benign|MGI:108564|Meis2|Meis homeobox 2 [Source:MGI Symbol;Acc:MGI:108564]|Heterozygous||T|C|61|36.0|Non-synonymous|Line Propagating
5203246|IGL01095|7|131316136|V->A|0.99|Probably damaging|MGI:1202881|Cuzd1|CUB and zona pellucida-like domains 1 [Source:MGI Symbol;Acc:MGI:1202881]|Heterozygous|Mice homozygous for disruption of this gene have a normal phenotype. However, they show an increased sesceptibility to induced pancreatitis.|A|G|56|39.0|Non-synonymous|Line Propagating
5203247|IGL01095|7|139020817|Q->L|||MGI:1921254|Jakmip3|janus kinase and microtubule interacting protein 3 [Source:MGI Symbol;Acc:MGI:1921254]|Heterozygous||A|T|55|36.0|Non-synonymous|Line Propagating
5203248|IGL01095|5|137041809|I->T|1.0|Probably damaging|MGI:1098244|Ap1s1|adaptor protein complex AP-1, sigma 1 [Source:MGI Symbol;Acc:MGI:1098244]|Heterozygous||A|G|53|36.0|Non-synonymous|Line Propagating
5203249|IGL01095|1|160738969|C->W||Benign|MGI:1352507|Rabgap1l|RAB GTPase activating protein 1-like [Source:MGI Symbol;Acc:MGI:1352507]|Heterozygous|Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types.|A|C|49|36.0|Non-synonymous|Line Propagating
5203250|IGL01095|8|67908513|T->M|1.0|Probably damaging|MGI:1918215|Psd3|pleckstrin and Sec7 domain containing 3 [Source:MGI Symbol;Acc:MGI:1918215]|Heterozygous||G|A|49|39.0|Non-synonymous|Line Propagating
5203251|IGL01095|13|74668094|E->G|0.04|Benign|MGI:1933403|Erap1|endoplasmic reticulum aminopeptidase 1 [Source:MGI Symbol;Acc:MGI:1933403]|Heterozygous|Mice homozygous for a targeted mutation may exhibit extramedullary hematopoiesis of the spleen, thymus hyperplasia, or enlarged kidneys at older ages.|A|G|46|38.0|Non-synonymous|Line Propagating
5203252|IGL01095|1|150410140|V->A|||MGI:1922066|Tpr|translocated promoter region [Source:MGI Symbol;Acc:MGI:1922066]|Heterozygous||T|C|37|37.0|Non-synonymous|Line Propagating
5203253|IGL01095|4|102506044|Disrupted splicing|||MGI:99557|Pde4b|phosphodiesterase 4B, cAMP specific [Source:MGI Symbol;Acc:MGI:99557]|Heterozygous|Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation.|T|C|36|34.5|Splice|Line Propagating
5203254|IGL01095|6|106742644|Disrupted splicing|||MGI:96558|Il5ra|interleukin 5 receptor, alpha [Source:MGI Symbol;Acc:MGI:96558]|Heterozygous|Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies.|A|T|36|38.0|Splice|Line Propagating
5203255|IGL01095|7|119951597|L->F||Benign|MGI:2683040|Dnahc3|dynein, axonemal, heavy chain 3 [Source:MGI Symbol;Acc:MGI:2683040]|Heterozygous||C|A|34|38.5|Non-synonymous|Line Propagating
5203256|IGL01095|14|55105114|T->A||Benign|MGI:1328307|Ap1g2|adaptor protein complex AP-1, gamma 2 subunit [Source:MGI Symbol;Acc:MGI:1328307]|Heterozygous||T|C|28|34.0|Non-synonymous|Line Propagating
5203257|IGL01095|17|56997470|H->R||Benign|MGI:1913650|Alkbh7|alkB, alkylation repair homolog 7 (E. coli) [Source:MGI Symbol;Acc:MGI:1913650]|Heterozygous||A|G|28|38.0|Non-synonymous|Line Propagating
5203258|IGL01095|12|64473381|V->A|0.44|Possibly damaging|MGI:3646964|Fscb|fibrous sheath CABYR binding protein [Source:MGI Symbol;Acc:MGI:3646964]|Heterozygous||A|G|25|36.0|Non-synonymous|Line Propagating
5203259|IGL01095|5|120772889|Y->H|1.0|Probably damaging|MGI:2180850|Oas3|2'-5' oligoadenylate synthetase 3 [Source:MGI Symbol;Acc:MGI:2180850]|Heterozygous||A|G|25|33.0|Non-synonymous|Line Propagating
5203260|IGL01095|10|21389281|E->G||Benign|MGI:2653900|Aldh8a1|aldehyde dehydrogenase 8 family, member A1 [Source:MGI Symbol;Acc:MGI:2653900]|Heterozygous||A|G|23|38.0|Non-synonymous|Line Propagating
5203261|IGL01095|17|35246961|S->P||Benign|MGI:99240|Ddx39b|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B [Source:MGI Symbol;Acc:MGI:99240]|Heterozygous||T|C|21|39.0|Non-synonymous|Line Propagating
5203262|IGL01095|9|14809824|S->R||Benign|MGI:1100512|Mre11a|meiotic recombination 11 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1100512]|Heterozygous|Though mutation of this locus affected chromosome stability, mutant mice were no more susceptible to tumorigenesis than wild-type mice. Mutant female mice showed reduced fertility.|T|A|21|36.0|Non-synonymous|Line Propagating
5203263|IGL01095|5|137738084|R->L|0.31|Benign|MGI:2443880|Nyap1|neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 [Source:MGI Symbol;Acc:MGI:2443880]|Heterozygous||C|A|16|35.5|Non-synonymous|Line Propagating
5203264|IGL01095|11|106247499|Y->C|1.0|Probably damaging|MGI:1919297|Ddx42|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 [Source:MGI Symbol;Acc:MGI:1919297]|Heterozygous||A|G|15|33.0|Non-synonymous|Line Propagating
5203265|IGL01095|16|49132015|K->M|1.0|Probably damaging|MGI:3643515|Myh15|myosin, heavy chain 15 [Source:MGI Symbol;Acc:MGI:3643515]|Heterozygous||A|T|13|35.0|Non-synonymous|Line Propagating
5203846|IGL01096|5|109086259|I->F|||MGI:3761377|Vmn2r12|vomeronasal 2, receptor 12 [Source:MGI Symbol;Acc:MGI:3761377]|Heterozygous||T|A|129|38.0|Non-synonymous|Line Propagating
5203847|IGL01096|7|20167636|V->I|||MGI:3647287|Vmn1r94|vomeronasal 1 receptor 94 [Source:MGI Symbol;Acc:MGI:3647287]|Heterozygous||C|T|69|38.0|Non-synonymous|Line Propagating
5203848|IGL01096|4|118809456|V->A|0.64|Possibly damaging|MGI:3031168|Olfr1335|olfactory receptor 1335 [Source:MGI Symbol;Acc:MGI:3031168]|Heterozygous||A|G|56|38.0|Non-synonymous|Line Propagating
5203849|IGL01096|7|140504184|S->T|0.31|Benign|MGI:3030370|Olfr536|olfactory receptor 536 [Source:MGI Symbol;Acc:MGI:3030370]|Heterozygous||A|T|40|38.0|Non-synonymous|Line Propagating
5203850|IGL01096|9|39218116|G->D|0.99|Probably damaging|MGI:3030778|Olfr944|olfactory receptor 944 [Source:MGI Symbol;Acc:MGI:3030778]|Heterozygous||G|A|40|39.0|Non-synonymous|Line Propagating
5203851|IGL01096|6|24104077|T->K|0.79|Possibly damaging|MGI:1859937|Slc13a1|solute carrier family 13 (sodium/sulfate symporters), member 1 [Source:MGI Symbol;Acc:MGI:1859937]|Heterozygous|Homozygous mutant mice exhibit hyposulfatemia, growth retardation, reduced female fertility, and spontaneous clonic seizures.|G|T|39|39.0|Non-synonymous|Line Propagating
5203852|IGL01096|6|67954465|D->G|||MGI:3643848|Igkv9-123|immunoglobulin kappa variable 9-123 [Source:MGI Symbol;Acc:MGI:3643848]|Heterozygous||T|C|36|37.0|Non-synonymous|Line Propagating
5203853|IGL01096|2|57338867|M->L|1.0|Probably damaging|MGI:99778|Gpd2|glycerol phosphate dehydrogenase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:99778]|Heterozygous|Homozygotes for targeted null mutations exhibit diminished hepatic ATP levels, decreased adiposity and fasting blood glucose, and, on an inbred background, reductions in preweaning viability and fertility.|A|T|34|35.0|Non-synonymous|Line Propagating
5203854|IGL01096|2|165296987|Disrupted splicing|||MGI:2153045|Elmo2|engulfment and cell motility 2 [Source:MGI Symbol;Acc:MGI:2153045]|Heterozygous||A|T|32|34.5|Splice|Line Propagating
5203855|IGL01096|10|79477828|E->G|1.0|Probably damaging|MGI:3644559|Vmn2r83|vomeronasal 2, receptor 83 [Source:MGI Symbol;Acc:MGI:3644559]|Heterozygous||A|G|30|36.5|Non-synonymous|Line Propagating
5203856|IGL01096|17|71921896|K->E|0.41|Benign|MGI:103305|Alk|anaplastic lymphoma kinase [Source:MGI Symbol;Acc:MGI:103305]|Heterozygous||T|C|28|35.0|Non-synonymous|Line Propagating
5203857|IGL01096|5|38672788|T->A|||MGI:2140750|Zfp518b|zinc finger protein 518B [Source:MGI Symbol;Acc:MGI:2140750]|Heterozygous||T|C|27|38.0|Non-synonymous|Line Propagating
5203858|IGL01096|7|104012114|L->W|1.0|Probably damaging|MGI:3030473|Olfr639|olfactory receptor 639 [Source:MGI Symbol;Acc:MGI:3030473]|Heterozygous||A|C|26|37.5|Non-synonymous|Line Propagating
5203859|IGL01096|16|95390053|Disrupted splicing|||MGI:95415|Erg|avian erythroblastosis virus E-26 (v-ets) oncogene related [Source:MGI Symbol;Acc:MGI:95415]|Heterozygous||A|G|25|38.0|Splice|Line Propagating
5203860|IGL01096|6|40463253|E->G|0.22|Benign|MGI:3027899|Wee2|WEE1 homolog 2 (S. pombe) [Source:MGI Symbol;Acc:MGI:3027899]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
5203861|IGL01096|1|43960888|P->T|1.0|Probably damaging|MGI:102724|Tpp2|tripeptidyl peptidase II [Source:MGI Symbol;Acc:MGI:102724]|Heterozygous|Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence.|C|A|22|39.0|Non-synonymous|Line Propagating
5203862|IGL01096|1|50930546|Disrupted splicing|||MGI:1861735|Tmeff2|transmembrane protein with EGF-like and two follistatin-like domains 2 [Source:MGI Symbol;Acc:MGI:1861735]|Heterozygous||G|A|20|40.0|Splice|Line Propagating
5203863|IGL01096|15|59350211|Disrupted splicing|||MGI:2146110|E430025e21rik|RIKEN cDNA E430025E21 gene [Source:MGI Symbol;Acc:MGI:2146110]|Heterozygous||T|C|20|37.0|Splice|Line Propagating
5203864|IGL01096|4|44347262|F->I|0.16|Benign|MGI:106924|Melk|maternal embryonic leucine zipper kinase [Source:MGI Symbol;Acc:MGI:106924]|Heterozygous||T|A|20|36.5|Non-synonymous|Line Propagating
5203865|IGL01096|10|118445269|Disrupted splicing|||MGI:107656|Ifng|interferon gamma [Source:MGI Symbol;Acc:MGI:107656]|Heterozygous|Mutants show immune system abnormalities including decreased inflammatory response in one line, and uncontrolled splenocyte proliferation and susceptibility to intracellular pathogens in another.|T|A|19|39.0|Splice|Line Propagating
5203866|IGL01096|8|109575401|M->K||Benign|MGI:96211|Hp|haptoglobin [Source:MGI Symbol;Acc:MGI:96211]|Heterozygous||A|T|19|37.0|Non-synonymous|Line Propagating
5203867|IGL01096|1|32520836|T->N|0.85|Possibly damaging|MGI:3641910, MGI:2159649|Khdrbs2,gm9839|KH domain containing, RNA binding, signal transduction associated 2 [Source:MGI Symbol;Acc:MGI:2159649],predicted gene 9839 [Source:MGI Symbol;Acc:MGI:3641910]|Heterozygous||G|T|18|34.0|Non-synonymous|Line Propagating
5203868|IGL01096|3|100063375|F->L|||MGI:1921612|Spag17|sperm associated antigen 17 [Source:MGI Symbol;Acc:MGI:1921612]|Heterozygous||T|C|18|36.5|Non-synonymous|Line Propagating
5203869|IGL01096|5|138809155|E->G|0.65|Possibly damaging|MGI:2136853|Fam20c|family with sequence similarity 20, member C [Source:MGI Symbol;Acc:MGI:2136853]|Heterozygous||A|G|18|36.5|Non-synonymous|Line Propagating
5203870|IGL01096|1|188678377|N->K|1.0|Probably damaging|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|C|A|17|37.0|Non-synonymous|Line Propagating
5203871|IGL01096|6|40895465|I->N|1.0|Probably damaging|MGI:3608323|Prss58|protease, serine 58 [Source:MGI Symbol;Acc:MGI:3608323]|Heterozygous||A|T|17|37.0|Non-synonymous|Line Propagating
5203872|IGL01096|8|95039593|M->L|0.99|Probably damaging|MGI:1859670|Gpr97|G protein-coupled receptor 97 [Source:MGI Symbol;Acc:MGI:1859670]|Heterozygous|Homozygous null mice display normal B and T cell development.|A|T|16|37.5|Non-synonymous|Line Propagating
5203873|IGL01096|4|65189316|Y->H|1.0|Probably damaging|MGI:97479|Pappa|pregnancy-associated plasma protein A [Source:MGI Symbol;Acc:MGI:97479]|Heterozygous|Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile.|T|C|14|37.0|Non-synonymous|Line Propagating
5203874|IGL01096|11|102154552|Disrupted splicing|||MGI:1923797|Tmem101|transmembrane protein 101 [Source:MGI Symbol;Acc:MGI:1923797]|Heterozygous||C|A|13|38.0|Splice|Line Propagating
5203875|IGL01096|2|88411791|M->T|0.97|Probably damaging|MGI:3031014|Olfr1180|olfactory receptor 1180 [Source:MGI Symbol;Acc:MGI:3031014]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
5203876|IGL01096|5|119883026|T->A||Benign|MGI:102541|Tbx5|T-box 5 [Source:MGI Symbol;Acc:MGI:102541]|Heterozygous||A|G|13|34.0|Non-synonymous|Line Propagating
5203877|IGL01096|11|4221850|E->A|1.0|Probably damaging|MGI:1919212|Gatsl3|GATS protein-like 3 [Source:MGI Symbol;Acc:MGI:1919212]|Heterozygous||A|C|12|39.5|Non-synonymous|Line Propagating
5203878|IGL01096|13|11703544|I->F|0.99|Probably damaging|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|T|A|12|40.0|Non-synonymous|Line Propagating
5203879|IGL01096|9|21108863|Y->H|0.99|Probably damaging|MGI:1929470|Tyk2|tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:1929470]|Heterozygous|Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function.|A|G|11|30.0|Non-synonymous|Line Propagating
5203880|IGL01096|5|104175367|H->Q|0.66|Possibly damaging|MGI:109172|Dspp|dentin sialophosphoprotein [Source:MGI Symbol;Acc:MGI:109172]|Heterozygous|Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors.|T|A|10|38.5|Non-synonymous|Line Propagating
5204437|IGL01097|10|127654932|S->P|1.0|Probably damaging|MGI:103034|Stat6|signal transducer and activator of transcription 6 [Source:MGI Symbol;Acc:MGI:103034]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired IL4 responses, including anti-IgM stimulated B cell proliferation, class switching to IgE, contact sensitivity, and Th2 cytokine production, and show increased resistance to certain infections.|T|C|311|38.0|Non-synonymous|Alive, Line Propagating
5204438|IGL01097|7|103717121|V->F|0.77|Possibly damaging|MGI:3030077|Olfr243|olfactory receptor 243 [Source:MGI Symbol;Acc:MGI:3030077]|Heterozygous||G|T|276|39.0|Non-synonymous|Alive, Line Propagating
5204439|IGL01097|11|98637572|K->E|0.81|Possibly damaging|MGI:3044668|Gsdma3|gasdermin A3 [Source:MGI Symbol;Acc:MGI:3044668]|Heterozygous||A|G|165|39.0|Non-synonymous|Alive, Line Propagating
5204440|IGL01097|10|85119813|I->L|0.14|Benign|MGI:1921488|Mterfd3|MTERF domain containing 3 [Source:MGI Symbol;Acc:MGI:1921488]|Heterozygous|Mice homozygous for a gene-trapped allele gain less weight than wild-type controls, develop a myopathy, and show memory deficits, decreased levels of mitochondrial transcripts, an imbalanced tRNA pool, impaired oxidative phosphorylation, reduced respiratory function, and enlarged mitochondrial mass.|T|A|127|39.0|Non-synonymous|Alive, Line Propagating
5204441|IGL01097|18|37967757|Disrupted splicing|||MGI:2441771|Fchsd1|FCH and double SH3 domains 1 [Source:MGI Symbol;Acc:MGI:2441771]|Heterozygous||T|C|126|34.0|Splice|Alive, Line Propagating
5204442|IGL01097|5|135061081|A->V|0.95|Possibly damaging|MGI:1913388|Wbscr22|Williams Beuren syndrome chromosome region 22 [Source:MGI Symbol;Acc:MGI:1913388]|Heterozygous||G|A|85|37.0|Non-synonymous|Alive, Line Propagating
5204443|IGL01097|6|42790143|Y->D|1.0|Probably damaging|MGI:3030286|Olfr452|olfactory receptor 452 [Source:MGI Symbol;Acc:MGI:3030286]|Heterozygous||T|G|68|39.0|Non-synonymous|Alive, Line Propagating
5204444|IGL01097|2|90776350|A->D|0.73|Possibly damaging|MGI:1860513|Fnbp4|formin binding protein 4 [Source:MGI Symbol;Acc:MGI:1860513]|Heterozygous||C|A|55|37.0|Non-synonymous|Alive, Line Propagating
5204445|IGL01097|7|45853292|N->K|1.0|Probably damaging|MGI:95823|Grin2d|glutamate receptor, ionotropic, NMDA2D (epsilon 4) [Source:MGI Symbol;Acc:MGI:95823]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold.|A|T|52|37.0|Non-synonymous|Alive, Line Propagating
5204446|IGL01097|1|60447346|A->V||Benign|MGI:106913|Abi2|abl-interactor 2 [Source:MGI Symbol;Acc:MGI:106913]|Heterozygous|Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning.|C|T|47|38.0|Non-synonymous|Alive, Line Propagating
5204447|IGL01097|2|163607320|Y->H|1.0|Probably damaging|MGI:1923330|Ttpal|tocopherol (alpha) transfer protein-like [Source:MGI Symbol;Acc:MGI:1923330]|Heterozygous||T|C|38|36.5|Non-synonymous|Alive, Line Propagating
5204448|IGL01097|1|158857148|Y->C|1.0|Probably damaging|MGI:3051647|Pappa2|pappalysin 2 [Source:MGI Symbol;Acc:MGI:3051647]|Heterozygous||T|C|36|37.0|Non-synonymous|Alive, Line Propagating
5204449|IGL01097|16|32144185|V->A|0.44|Possibly damaging|MGI:2445095|Lrrc33|leucine rich repeat containing 33 [Source:MGI Symbol;Acc:MGI:2445095]|Heterozygous||A|G|36|35.0|Non-synonymous|Alive, Line Propagating
5204450|IGL01097|17|28201049|K->E|1.0|Probably damaging|MGI:2687278|Zfp523|zinc finger protein 523 [Source:MGI Symbol;Acc:MGI:2687278]|Heterozygous||A|G|33|38.0|Non-synonymous|Alive, Line Propagating
5204451|IGL01097|7|49571194|A->T|1.0|Probably damaging|MGI:2183691|Nav2|neuron navigator 2 [Source:MGI Symbol;Acc:MGI:2183691]|Heterozygous|Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss.|G|A|32|35.0|Non-synonymous|Alive, Line Propagating
5204452|IGL01097|17|34921569|L->P|1.0|Probably damaging|MGI:1917379|Slc44a4|solute carrier family 44, member 4 [Source:MGI Symbol;Acc:MGI:1917379]|Heterozygous||T|C|28|33.0|Non-synonymous|Alive, Line Propagating
5204453|IGL01097|16|56260647|Disrupted splicing|||MGI:3044955|Impg2|interphotoreceptor matrix proteoglycan 2 [Source:MGI Symbol;Acc:MGI:3044955]|Heterozygous||T|A|22|37.0|Splice|Alive, Line Propagating
5204454|IGL01097|18|35212941|I->N|0.99|Probably damaging|MGI:2389174, MGI:88274|Ctnna1,lrrtm2|leucine rich repeat transmembrane neuronal 2 [Source:MGI Symbol;Acc:MGI:2389174],catenin (cadherin associated protein), alpha 1 [Source:MGI Symbol;Acc:MGI:88274]|Heterozygous|NO_PHENOTYPE,Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis.|A|T|19|39.0|Non-synonymous|Alive, Line Propagating
5204455|IGL01097|2|181547356|Y->H||Benign|MGI:892995|Dnajc5|DnaJ (Hsp40) homolog, subfamily C, member 5 [Source:MGI Symbol;Acc:MGI:892995]|Heterozygous|Mice homozygous for disruptions in this gene die within the first 3 months of live and abnormalities in their neuromuscular synapses. This results in various defects in movement and coordination.|T|C|18|35.5|Non-synonymous|Alive, Line Propagating
5204456|IGL01097|11|113692470|I->T|0.02|Benign|MGI:106356|D11wsu47e|DNA segment, Chr 11, Wayne State University 47, expressed [Source:MGI Symbol;Acc:MGI:106356]|Heterozygous||T|C|16|37.5|Non-synonymous|Alive, Line Propagating
5205025|IGL01098|11|17946059|V->A|0.09|Benign|MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||A|G|274|38.0|Non-synonymous|Line Propagating
5205026|IGL01098|2|151473533|D->G|0.99|Probably damaging|MGI:2685851|4921509c19rik|RIKEN cDNA 4921509C19 gene [Source:MGI Symbol;Acc:MGI:2685851]|Heterozygous||T|C|173|38.0|Non-synonymous|Line Propagating
5205027|IGL01098|2|38947214|Disrupted splicing|||MGI:2444741|Olfml2a|olfactomedin-like 2A [Source:MGI Symbol;Acc:MGI:2444741]|Heterozygous||A|G|112|39.0|Splice|Line Propagating
5205028|IGL01098|18|65991640|F->L|1.0|Probably damaging|MGI:1917611|Lman1|lectin, mannose-binding, 1 [Source:MGI Symbol;Acc:MGI:1917611]|Heterozygous||A|G|104|35.5|Non-synonymous|Line Propagating
5205029|IGL01098|5|21575271|F->L|0.02|Benign|MGI:1921761, MGI:2443416|Lrrc17,fbxl13|leucine rich repeat containing 17 [Source:MGI Symbol;Acc:MGI:1921761],F-box and leucine-rich repeat protein 13 [Source:MGI Symbol;Acc:MGI:2443416]|Heterozygous|Mice homozygous for a targeted allele exhibit normal phenotype.,NO_PHENOTYPE|T|A|99|38.0|Non-synonymous|Line Propagating
5205030|IGL01098|7|19577920|K->N|1.0|Probably damaging|MGI:1926956|Zfp296|zinc finger protein 296 [Source:MGI Symbol;Acc:MGI:1926956]|Heterozygous||A|T|96|37.0|Non-synonymous|Line Propagating
5205031|IGL01098|1|66706515|D->E||Benign|MGI:1913896|Rpe|ribulose-5-phosphate-3-epimerase [Source:MGI Symbol;Acc:MGI:1913896]|Heterozygous||C|A|90|37.0|Non-synonymous|Line Propagating
5205032|IGL01098|8|119602841|Q->K|0.01|Benign|MGI:109576|Taf1c|TATA box binding protein (Tbp)-associated factor, RNA polymerase I, C [Source:MGI Symbol;Acc:MGI:109576]|Heterozygous||G|T|88|33.0|Non-synonymous|Line Propagating
5205033|IGL01098|19|8946717|D->G|1.0|Probably damaging|MGI:1346340|Mta2|metastasis-associated gene family, member 2 [Source:MGI Symbol;Acc:MGI:1346340]|Heterozygous|Mice homozygous for a null allele exhibit partial embryonic and perinatal lethality, reduced weight, shortened lifespan, and increased susceptibility to systemic lupus erythematosus with increased T cell proliferation under Th2 conditions.|A|G|84|36.0|Non-synonymous|Line Propagating
5205034|IGL01098|4|128059052|T->M|1.0|Probably damaging|MGI:2386401|Csmd2|CUB and Sushi multiple domains 2 [Source:MGI Symbol;Acc:MGI:2386401]|Heterozygous||C|T|84|35.0|Non-synonymous|Line Propagating
5205035|IGL01098|8|114445378|G->Stop||N/A|MGI:1931237|Wwox|WW domain-containing oxidoreductase [Source:MGI Symbol;Acc:MGI:1931237]|Heterozygous|Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele.|G|T|81|38.0|Non-synonymous|Line Propagating
5205036|IGL01098|17|54292960|A->T||Benign|MGI:1927126|Slc5a7|solute carrier family 5 (choline transporter), member 7 [Source:MGI Symbol;Acc:MGI:1927126]|Heterozygous|Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology.|C|T|75|37.0|Non-synonymous|Line Propagating
5205037|IGL01098|12|87176671|A->E||Benign|MGI:1923480|Tmed8|transmembrane emp24 domain containing 8 [Source:MGI Symbol;Acc:MGI:1923480]|Heterozygous||G|T|70|30.0|Non-synonymous|Line Propagating
5205038|IGL01098|11|30159385|R->K|0.53|Possibly damaging|MGI:3525633, MGI:3042918, MGI:3042915, MGI:3042917, MGI:98388, MGI:3042916, MGI:3512171, MGI:3527564, MGI:3527560, MGI:3527563, MGI:4418084, MGI:3527565, MGI:3527569, MGI:3527566, MGI:1347107, MGI:3038861, MGI:3042417, MGI:3527570|Spnb2|spectrin beta 2 [Source:MGI Symbol;Acc:MGI:98388]|Heterozygous|Homozygotes for a targeted null mutation exhibit gastrointestinal, hepatic, neural, and cardiac defects. Mutants die around midgestation.|C|T|66|38.0|Non-synonymous|Line Propagating
5205039|IGL01098|10|25994143|I->T|0.99|Probably damaging|MGI:1924470|Tmem200a|transmembrane protein 200A [Source:MGI Symbol;Acc:MGI:1924470]|Heterozygous||A|G|63|39.0|Non-synonymous|Line Propagating
5205040|IGL01098|17|33962730|T->I|0.5|Possibly damaging|MGI:1330304|Vps52|vacuolar protein sorting 52 (yeast) [Source:MGI Symbol;Acc:MGI:1330304]|Heterozygous||C|T|63|36.0|Non-synonymous|Line Propagating
5205041|IGL01098|7|138836462|P->S|0.77|Possibly damaging|MGI:1916796|Mapk1ip1|mitogen-activated protein kinase 1 interacting protein 1 [Source:MGI Symbol;Acc:MGI:1916796]|Heterozygous||G|A|58|38.0|Non-synonymous|Line Propagating
5205042|IGL01098|11|86108862|R->S|1.0|Probably damaging|MGI:2442836|Brip1|BRCA1 interacting protein C-terminal helicase 1 [Source:MGI Symbol;Acc:MGI:2442836]|Heterozygous||G|T|56|37.0|Non-synonymous|Line Propagating
5205043|IGL01098|6|55284742|Disrupted splicing|||MGI:3583959|Fam188b|family with sequence similarity 188, member B [Source:MGI Symbol;Acc:MGI:3583959]|Heterozygous||G|T|55|37.0|Splice|Line Propagating
5205044|IGL01098|12|81724154|S->P|1.0|Probably damaging|MGI:2449952|Map3k9|mitogen-activated protein kinase kinase kinase 9 [Source:MGI Symbol;Acc:MGI:2449952]|Heterozygous|Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan.|A|G|52|35.5|Non-synonymous|Line Propagating
5205045|IGL01098|7|128252521|F->S|1.0|Probably damaging|MGI:102784|Tgfb1i1|transforming growth factor beta 1 induced transcript 1 [Source:MGI Symbol;Acc:MGI:102784]|Heterozygous||T|C|52|37.0|Non-synonymous|Line Propagating
5205046|IGL01098|5|36815556|L->Q|1.0|Probably damaging|MGI:1195262|Man2b2|mannosidase 2, alpha B2 [Source:MGI Symbol;Acc:MGI:1195262]|Heterozygous||A|T|49|36.0|Non-synonymous|Line Propagating
5205047|IGL01098|19|37700002|Q->L|0.12|Benign|MGI:1096359|Cyp26a1|cytochrome P450, family 26, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1096359]|Heterozygous|Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain.|A|T|45|39.0|Non-synonymous|Line Propagating
5205048|IGL01098|5|151572831|V->E|0.67|Possibly damaging|MGI:3645314|Vmn2r18|vomeronasal 2, receptor 18 [Source:MGI Symbol;Acc:MGI:3645314]|Heterozygous||A|T|45|37.0|Non-synonymous|Line Propagating
5205049|IGL01098|9|66461922|Disrupted splicing|||MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|T|A|36|36.0|Splice|Line Propagating
5205050|IGL01098|2|30108220|Disrupted splicing|||MGI:2442511|Zer1|zer-1 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2442511]|Heterozygous||C|T|35|37.0|Splice|Line Propagating
5205051|IGL01098|10|41070743|T->I|1.0|Probably damaging|MGI:2155249|Gpr6|G protein-coupled receptor 6 [Source:MGI Symbol;Acc:MGI:2155249]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|G|A|34|36.5|Non-synonymous|Line Propagating
5205052|IGL01098|10|27031112|I->N|||MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|A|T|32|38.0|Non-synonymous|Line Propagating
5205053|IGL01098|17|20048096|E->G|0.08|Benign|MGI:1316665|Vmn2r104|vomeronasal 2, receptor 104 [Source:MGI Symbol;Acc:MGI:1316665]|Heterozygous||T|C|31|39.0|Non-synonymous|Line Propagating
5205054|IGL01098|4|138320097|Disrupted splicing|||MGI:1916193|Pink1|PTEN induced putative kinase 1 [Source:MGI Symbol;Acc:MGI:1916193]|Heterozygous|Mice homozygous for a null allele exhibit decreased dopamine and catecholamine release, and reduced long term potentional and depression.|A|T|27|36.0|Splice|Line Propagating
5205055|IGL01098|11|117792563|V->A|1.0|Probably damaging|MGI:2669037|Tmc8|transmembrane channel-like gene family 8 [Source:MGI Symbol;Acc:MGI:2669037]|Heterozygous||T|C|26|35.0|Non-synonymous|Line Propagating
5205056|IGL01098|5|147306982|M->L|0.76|Possibly damaging|MGI:88361|Cdx2|caudal type homeobox 2 [Source:MGI Symbol;Acc:MGI:88361]|Heterozygous|Homozygotes for targeted null mutations die prior to gastrulation. Heterozygotes exhibit tail abnormalities, stunted growth, defects of the vertebrae and ribs, and multiple intestinal adenomatous polyps.|T|A|26|37.5|Non-synonymous|Line Propagating
5205057|IGL01098|11|113729502|D->A|1.0|Probably damaging|MGI:1929760|Cdc42ep4|CDC42 effector protein (Rho GTPase binding) 4 [Source:MGI Symbol;Acc:MGI:1929760]|Heterozygous||T|G|19|35.0|Non-synonymous|Line Propagating
5205058|IGL01098|7|130823245|I->T|1.0|Probably damaging|MGI:3045247|Btbd16|BTB (POZ) domain containing 16 [Source:MGI Symbol;Acc:MGI:3045247]|Heterozygous||T|C|18|39.5|Non-synonymous|Line Propagating
5205059|IGL01098|7|109143450|Disrupted splicing|||MGI:102812|Lmo1|LIM domain only 1 [Source:MGI Symbol;Acc:MGI:102812]|Heterozygous|Homozygous mutant mice show no overt phenotype.|A|G|17|31.0|Splice|Line Propagating
5205061|IGL01098|1|133282165|F->L|0.95|Probably damaging|MGI:2388662|Plekha6|pleckstrin homology domain containing, family A member 6 [Source:MGI Symbol;Acc:MGI:2388662]|Heterozygous||T|C|13|35.0|Non-synonymous|Line Propagating
5205062|IGL01098|3|153877982|Disrupted splicing|||MGI:1860077|Msh4|mutS homolog 4 (E. coli) [Source:MGI Symbol;Acc:MGI:1860077]|Heterozygous|Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis.|A|T|10|36.0|Splice|Line Propagating
5205627|IGL01099|1|164194334|N->K|1.0|Probably damaging|MGI:88382|F5|coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]|Heterozygous||T|G|152|38.5|Non-synonymous|Line Propagating
5205628|IGL01099|3|90490602|Disrupted splicing|||MGI:1333745|Snapin|SNAP-associated protein [Source:MGI Symbol;Acc:MGI:1333745]|Heterozygous|Homozygous mice die shortly after birth. No obvious brain morphological abnormalities are seen. Calcium-dependent exocytosis in adrenal chromaffin cells is reduced due to a reduced number of secretory vesicles in releasable pools.|G|A|147|38.0|Splice|Line Propagating
5205629|IGL01099|14|52667665|T->S|||MGI:3642602|Trav6-2|T cell receptor alpha variable 6-2 [Source:MGI Symbol;Acc:MGI:3642602]|Heterozygous||A|T|130|38.0|Non-synonymous|Line Propagating
5205630|IGL01099|8|23108249|G->D|1.0|Probably damaging|MGI:88024|Ank1|ankyrin 1, erythroid [Source:MGI Symbol;Acc:MGI:88024]|Heterozygous|Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy.|G|A|124|37.0|Non-synonymous|Line Propagating
5205631|IGL01099|6|89714596|I->F|0.98|Probably damaging|MGI:2148518|Vmn1r40|vomeronasal 1 receptor 40 [Source:MGI Symbol;Acc:MGI:2148518]|Heterozygous||A|T|122|38.0|Non-synonymous|Line Propagating
5205632|IGL01099|18|21020913|C->S|1.0|Probably damaging|MGI:1929211|Rnf138|ring finger protein 138 [Source:MGI Symbol;Acc:MGI:1929211]|Heterozygous||T|A|120|38.0|Non-synonymous|Line Propagating
5205633|IGL01099|10|78788997|S->P|0.58|Possibly damaging|MGI:1096331|Slc1a6|solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 [Source:MGI Symbol;Acc:MGI:1096331]|Heterozygous|Mice homozygous for disruptions in this gene survive well and display no obvious abnormalities of behavior or brain structure.|T|C|106|38.0|Non-synonymous|Line Propagating
5205634|IGL01099|13|24701207|H->L|0.05|Benign|MGI:2444879|Fam65b|family with sequence similarity 65, member B [Source:MGI Symbol;Acc:MGI:2444879]|Heterozygous||A|T|101|35.0|Non-synonymous|Line Propagating
5205635|IGL01099|13|6603390|Disrupted splicing|||MGI:1891833|Pfkp|phosphofructokinase, platelet [Source:MGI Symbol;Acc:MGI:1891833]|Heterozygous||A|T|95|38.0|Splice|Line Propagating
5205636|IGL01099|1|139547759|I->F|0.99|Probably damaging|MGI:2138169|Cfhr1|complement factor H-related 1 [Source:MGI Symbol;Acc:MGI:2138169]|Heterozygous||T|A|86|40.0|Non-synonymous|Line Propagating
5205637|IGL01099|9|38219743|S->P|0.01|Benign|MGI:3030728|Olfr894|olfactory receptor 894 [Source:MGI Symbol;Acc:MGI:3030728]|Heterozygous||T|C|86|39.0|Non-synonymous|Line Propagating
5205638|IGL01099|7|102484478|D->V|1.0|Probably damaging|MGI:3030378|Olfr544|olfactory receptor 544 [Source:MGI Symbol;Acc:MGI:3030378]|Heterozygous||T|A|84|37.0|Non-synonymous|Line Propagating
5205639|IGL01099|11|93578690|E->K|0.84|Possibly damaging|MGI:1919855|Car10|carbonic anhydrase 10 [Source:MGI Symbol;Acc:MGI:1919855]|Heterozygous||G|A|76|39.0|Non-synonymous|Line Propagating
5205640|IGL01099|8|3258682|Y->C|1.0|Probably damaging|MGI:96575|Insr|insulin receptor [Source:MGI Symbol;Acc:MGI:96575]|Heterozygous|Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. Point mutation heterozygotes exhibit hyperglycemia, hyperinsulinemia and glucosuria.|T|C|76|37.0|Non-synonymous|Line Propagating
5205641|IGL01099|2|53141835|H->L||Unknown|MGI:1860512|Prpf40a|PRP40 pre-mRNA processing factor 40 homolog A (yeast) [Source:MGI Symbol;Acc:MGI:1860512]|Heterozygous||T|A|73|37.0|Non-synonymous|Line Propagating
5205642|IGL01099|7|125865320|H->Q|1.0|Probably damaging|MGI:2442760|D430042o09rik|RIKEN cDNA D430042O09 gene [Source:MGI Symbol;Acc:MGI:2442760]|Heterozygous||T|A|70|36.0|Non-synonymous|Line Propagating
5205643|IGL01099|11|76239550|K->Stop||N/A|MGI:1914451|Glod4|glyoxalase domain containing 4 [Source:MGI Symbol;Acc:MGI:1914451]|Heterozygous||T|A|66|38.0|Non-synonymous|Line Propagating
5205644|IGL01099|18|9848826|R->C|1.0|Probably damaging|MGI:2152907|Colec12|collectin sub-family member 12 [Source:MGI Symbol;Acc:MGI:2152907]|Heterozygous||C|T|65|39.0|Non-synonymous|Line Propagating
5205645|IGL01099|9|38582077|S->P|||MGI:3030746|Olfr912|olfactory receptor 912 [Source:MGI Symbol;Acc:MGI:3030746]|Heterozygous||T|C|62|38.0|Non-synonymous|Line Propagating
5205646|IGL01099|11|69940730|Q->L|0.66|Possibly damaging|MGI:1096372|Ybx2|Y box protein 2 [Source:MGI Symbol;Acc:MGI:1096372]|Heterozygous|Homozygous disruption of this gene leads to both male and female infertility. Spermatogenesis terminates in postmeiotic germ cells with no sperm seen in the epididymis and a marked increase of apoptosis during meiosis. Adult females exhibit a few growing follicles and no corpora lutea.|A|T|61|31.0|Non-synonymous|Line Propagating
5205647|IGL01099|4|137743313|Disrupted splicing|||MGI:87983|Alpl|alkaline phosphatase, liver/bone/kidney [Source:MGI Symbol;Acc:MGI:87983]|Heterozygous|Homozygotes for targeted null mutations exhibit hypophosphatemia, growth impairment, elevated pyridoxal 5'-phosphate levels, seizures, poorly mineralized bone and teeth, and preweaning lethality.|G|A|60|37.0|Splice|Line Propagating
5205649|IGL01099|18|57906020|C->Stop||N/A|MGI:101924|Slc12a2|solute carrier family 12, member 2 [Source:MGI Symbol;Acc:MGI:101924]|Heterozygous|Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality.|T|A|55|37.0|Non-synonymous|Line Propagating
5205650|IGL01099|12|64472101|S->P||Unknown|MGI:3646964|Fscb|fibrous sheath CABYR binding protein [Source:MGI Symbol;Acc:MGI:3646964]|Heterozygous||A|G|52|37.5|Non-synonymous|Line Propagating
5205651|IGL01099|16|44156469|N->I|1.0|Probably damaging|MGI:1919367|Naa50|N(alpha)-acetyltransferase 50, NatE catalytic subunit [Source:MGI Symbol;Acc:MGI:1919367]|Heterozygous||A|T|52|37.5|Non-synonymous|Line Propagating
5205652|IGL01099|17|22039725|K->R|0.02|Benign|MGI:3804969|Gm7052|predicted gene 7052 [Source:MGI Symbol;Acc:MGI:3804969]|Heterozygous||T|C|50|39.0|Non-synonymous|Line Propagating
5205653|IGL01099|3|20151047|M->K|0.15|Benign|MGI:1351614|Gyg|glycogenin [Source:MGI Symbol;Acc:MGI:1351614]|Heterozygous||A|T|49|37.0|Non-synonymous|Line Propagating
5205654|IGL01099|6|115969945|V->L||Benign|MGI:2154244|Plxnd1|plexin D1 [Source:MGI Symbol;Acc:MGI:2154244]|Heterozygous|Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels.|C|A|47|39.0|Non-synonymous|Line Propagating
5205655|IGL01099|1|165539842|I->M||Benign|MGI:2660854|Adcy10|adenylate cyclase 10 [Source:MGI Symbol;Acc:MGI:2660854]|Heterozygous|Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate.|A|G|46|38.5|Non-synonymous|Line Propagating
5205656|IGL01099|7|139920784|H->Q|0.98|Probably damaging|MGI:1923734|Kndc1|kinase non-catalytic C-lobe domain (KIND) containing 1 [Source:MGI Symbol;Acc:MGI:1923734]|Heterozygous|Mice homozygous for a knock-out allele are viable and overtly normal.|C|A|46|37.0|Non-synonymous|Line Propagating
5205657|IGL01099|6|29433618|V->M|0.02|Benign|MGI:95557|Flnc|filamin C, gamma [Source:MGI Symbol;Acc:MGI:95557]|Heterozygous|Mice homozygous for a hypomorphic allele display neonatal lethality, respiratory failure, reduced skeletal muscle mass, and abnormal skeletal muscle fiber morphology.|G|A|45|34.0|Non-synonymous|Line Propagating
5205658|IGL01099|14|68637329|Disrupted splicing|||MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||A|G|43|38.0|Splice|Line Propagating
5205659|IGL01099|16|17091212|M->L|0.98|Probably damaging|MGI:2447857|Ppil2|peptidylprolyl isomerase (cyclophilin)-like 2 [Source:MGI Symbol;Acc:MGI:2447857]|Heterozygous||T|A|43|35.0|Non-synonymous|Line Propagating
5205660|IGL01099|7|44516167|C->R|1.0|Probably damaging|MGI:1336170|Mybpc2|myosin binding protein C, fast-type [Source:MGI Symbol;Acc:MGI:1336170]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
5205661|IGL01099|11|23015894|Disrupted splicing|||MGI:1921123|Fam161a|family with sequence similarity 161, member A [Source:MGI Symbol;Acc:MGI:1921123]|Heterozygous||T|C|42|39.0|Splice|Line Propagating
5205662|IGL01099|7|13084534|K->Stop||N/A|MGI:2182262|Vmn1r85|vomeronasal 1 receptor 85 [Source:MGI Symbol;Acc:MGI:2182262]|Heterozygous||T|A|42|37.5|Non-synonymous|Line Propagating
5205663|IGL01099|19|34573302|I->F|0.99|Probably damaging|MGI:99449|Ifit2|interferon-induced protein with tetratricopeptide repeats 2 [Source:MGI Symbol;Acc:MGI:99449]|Heterozygous||A|T|41|37.0|Non-synonymous|Line Propagating
5205664|IGL01099|2|76728432|Y->H|0.98|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|41|37.0|Non-synonymous|Line Propagating
5205665|IGL01099|9|107540289|V->M|0.7|Possibly damaging|MGI:1929280|Cyb561d2|cytochrome b-561 domain containing 2 [Source:MGI Symbol;Acc:MGI:1929280]|Heterozygous||C|T|41|37.0|Non-synonymous|Line Propagating
5205666|IGL01099|2|66684238|V->D|1.0|Probably damaging|MGI:102965|Scn7a|sodium channel, voltage-gated, type VII, alpha [Source:MGI Symbol;Acc:MGI:102965]|Heterozygous|Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise.|A|T|39|39.0|Non-synonymous|Line Propagating
5205667|IGL01099|7|46205262|S->P|0.99|Probably damaging|MGI:1919338|Ush1c|Usher syndrome 1C [Source:MGI Symbol;Acc:MGI:1919338]|Heterozygous|Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.|A|G|38|36.0|Non-synonymous|Line Propagating
5205668|IGL01099|13|97953972|Disrupted splicing|||MGI:1346016|Rgnef|Rho-guanine nucleotide exchange factor [Source:MGI Symbol;Acc:MGI:1346016]|Heterozygous||A|T|34|37.5|Splice|Line Propagating
5205669|IGL01099|3|114112041|R->Stop||N/A|MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|C|T|32|39.0|Non-synonymous|Line Propagating
5205670|IGL01099|6|131490430|R->Q|0.1|Benign|MGI:3779616|Gm6619|predicted gene 6619 [Source:MGI Symbol;Acc:MGI:3779616]|Heterozygous||G|A|32|39.5|Non-synonymous|Line Propagating
5205671|IGL01099|12|99915445|Disrupted splicing|||MGI:1920036|Tdp1|tyrosyl-DNA phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:1920036]|Heterozygous|Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.|A|T|31|38.0|Splice|Line Propagating
5205672|IGL01099|19|12119876|S->P|0.97|Probably damaging|MGI:2153205|Olfr76|olfactory receptor 76 [Source:MGI Symbol;Acc:MGI:2153205]|Heterozygous||A|G|31|35.0|Non-synonymous|Line Propagating
5205673|IGL01099|15|99239736|S->P||Benign|MGI:1341723|Kcnh3|potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:MGI Symbol;Acc:MGI:1341723]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.|T|C|30|34.5|Non-synonymous|Line Propagating
5205674|IGL01099|3|27463817|I->V|0.31|Benign|MGI:1919257|Fndc3b|fibronectin type III domain containing 3B [Source:MGI Symbol;Acc:MGI:1919257]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis.|T|C|30|40.0|Non-synonymous|Line Propagating
5205675|IGL01099|17|73351509|D->G|1.0|Probably damaging|MGI:2685789|Capn13|calpain 13 [Source:MGI Symbol;Acc:MGI:2685789]|Heterozygous||T|C|28|38.5|Non-synonymous|Line Propagating
5205676|IGL01099|13|105109360|H->L||Benign|MGI:1914013|4933425l06rik|RIKEN cDNA 4933425L06 gene [Source:MGI Symbol;Acc:MGI:1914013]|Heterozygous||A|T|26|38.0|Non-synonymous|Line Propagating
5205677|IGL01099|2|172875262|C->S|1.0|Probably damaging|MGI:103302|Bmp7|bone morphogenetic protein 7 [Source:MGI Symbol;Acc:MGI:103302]|Heterozygous|Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects.|A|T|25|34.0|Non-synonymous|Line Propagating
5205678|IGL01099|2|20807111|L->P||Benign|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
5205679|IGL01099|18|31906789|Q->K|0.89|Possibly damaging|MGI:1921570|Wdr33|WD repeat domain 33 [Source:MGI Symbol;Acc:MGI:1921570]|Heterozygous||C|A|20|35.0|Non-synonymous|Line Propagating
5205680|IGL01099|6|127088145|A->E||Benign|MGI:2442752|9630033f20rik|RIKEN cDNA 9630033F20 gene [Source:MGI Symbol;Acc:MGI:2442752]|Heterozygous||G|T|20|36.0|Non-synonymous|Line Propagating
5205681|IGL01099|11|110074205|Disrupted splicing|||MGI:2386846|Abca8a|ATP-binding cassette, sub-family A (ABC1), member 8a [Source:MGI Symbol;Acc:MGI:2386846]|Heterozygous||G|A|12|37.5|Splice|Line Propagating
5205682|IGL01099|17|69210193|D->G|0.21|Benign|MGI:103008|Epb4.1l3|erythrocyte protein band 4.1-like 3 [Source:MGI Symbol;Acc:MGI:103008]|Heterozygous|Mice homozygous for a disruption in this gene display a normal phenotype.|A|G|10|39.5|Non-synonymous|Line Propagating
5206246|IGL01100|2|37201640|H->L|0.79|Possibly damaging|MGI:3030199|Olfr365|olfactory receptor 365 [Source:MGI Symbol;Acc:MGI:3030199]|Heterozygous||A|T|100|37.0|Non-synonymous|Alive, Line Propagating
5206247|IGL01100|X|74200626|R->H|0.58|Possibly damaging|MGI:1933244|Tktl1|transketolase-like 1 [Source:MGI Symbol;Acc:MGI:1933244]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptibility to DSS-induced colitis.|G|A|95|37.0|Non-synonymous|Alive, Line Propagating
5206248|IGL01100|9|16375228|F->I|0.18|Benign|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||A|T|90|38.0|Non-synonymous|Alive, Line Propagating
5206249|IGL01100|11|110058423|Disrupted splicing|||MGI:2386846|Abca8a|ATP-binding cassette, sub-family A (ABC1), member 8a [Source:MGI Symbol;Acc:MGI:2386846]|Heterozygous||C|T|87|38.0|Splice|Alive, Line Propagating
5206250|IGL01100|3|103040525|R->S|1.0|Probably damaging|MGI:92356|Csde1|cold shock domain containing E1, RNA binding [Source:MGI Symbol;Acc:MGI:92356]|Heterozygous||C|A|81|38.0|Non-synonymous|Alive, Line Propagating
5206252|IGL01100|6|122828391|L->P|1.0|Probably damaging|MGI:1926805|Foxj2|forkhead box J2 [Source:MGI Symbol;Acc:MGI:1926805]|Heterozygous||T|C|56|37.0|Non-synonymous|Alive, Line Propagating
5206253|IGL01100|6|3375863|S->I|0.67|Possibly damaging|MGI:1343184|Samd9l|sterile alpha motif domain containing 9-like [Source:MGI Symbol;Acc:MGI:1343184]|Heterozygous||C|A|45|37.0|Non-synonymous|Alive, Line Propagating
5206254|IGL01100|1|178917244|C->Y||Benign|MGI:2447076|Kif26b|kinesin family member 26B [Source:MGI Symbol;Acc:MGI:2447076]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality with impaired kidney development due to loss of cortical nephrogenic zone mesenchyme and failure of ureteric buds to invade and branch into the mesenchyme.|G|A|41|36.0|Non-synonymous|Alive, Line Propagating
5206255|IGL01100|10|60299929|G->S||Benign|MGI:97783|Psap|prosaposin [Source:MGI Symbol;Acc:MGI:97783]|Heterozygous|Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney.|G|A|41|35.0|Non-synonymous|Alive, Line Propagating
5206256|IGL01100|7|24416951|V->M|1.0|Probably damaging|MGI:1919247|Smg9|smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) [Source:MGI Symbol;Acc:MGI:1919247]|Heterozygous||G|A|41|37.0|Non-synonymous|Alive, Line Propagating
5206257|IGL01100|11|17952576|Disrupted splicing|||MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||A|G|40|37.5|Splice|Alive, Line Propagating
5206258|IGL01100|15|5174318|K->M|1.0|Probably damaging|MGI:2145955|Prkaa1|protein kinase, AMP-activated, alpha 1 catalytic subunit [Source:MGI Symbol;Acc:MGI:2145955]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, and increased spleen weight.|A|T|39|39.0|Non-synonymous|Alive, Line Propagating
5206259|IGL01100|7|104959995|I->F|0.93|Possibly damaging|MGI:3030504|Olfr670|olfactory receptor 670 [Source:MGI Symbol;Acc:MGI:3030504]|Heterozygous||T|A|30|38.0|Non-synonymous|Alive, Line Propagating
5206260|IGL01100|9|104076408|T->A|0.9|Possibly damaging|MGI:2143169|Acad11|acyl-Coenzyme A dehydrogenase family, member 11 [Source:MGI Symbol;Acc:MGI:2143169]|Heterozygous||A|G|30|38.0|Non-synonymous|Alive, Line Propagating
5206261|IGL01100|11|96063023|V->A|1.0|Probably damaging|MGI:1343160|Ube2z|ubiquitin-conjugating enzyme E2Z (putative) [Source:MGI Symbol;Acc:MGI:1343160]|Heterozygous||A|G|29|39.0|Non-synonymous|Alive, Line Propagating
5206262|IGL01100|4|133612958|Y->N|1.0|Probably damaging|MGI:3527792|Zdhhc18|zinc finger, DHHC domain containing 18 [Source:MGI Symbol;Acc:MGI:3527792]|Heterozygous||A|T|24|35.0|Non-synonymous|Alive, Line Propagating
5206263|IGL01100|5|30918404|H->R||Benign|MGI:1926189|Emilin1|elastin microfibril interfacer 1 [Source:MGI Symbol;Acc:MGI:1926189]|Heterozygous|Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities.|A|G|23|33.0|Non-synonymous|Alive, Line Propagating
5206264|IGL01100|12|105713574|N->K|||MGI:1926051|Ak7|adenylate kinase 7 [Source:MGI Symbol;Acc:MGI:1926051]|Heterozygous||T|A|21|35.0|Non-synonymous|Alive, Line Propagating
5206265|IGL01100|9|108805744|S->I|1.0|Probably damaging|MGI:1923750|Ip6k2|inositol hexaphosphate kinase 2 [Source:MGI Symbol;Acc:MGI:1923750]|Heterozygous|Mice homozygous for a knock-out allele exhibit resistance to radiation induced lethality, increased double-strand break repair, and increased incidence of chemically-induced aerodigestive tract carcinoma.|G|T|21|38.0|Non-synonymous|Alive, Line Propagating
5206266|IGL01100|7|99587213|Disrupted splicing|||MGI:99473|Arrb1|arrestin, beta 1 [Source:MGI Symbol;Acc:MGI:99473]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired quenching of rod photocurrent flash responses and greater sensitivity to beta-receptor agonist-stimulated ventricular ejection fraction.|A|T|20|37.5|Splice|Alive, Line Propagating
5206267|IGL01100|8|13475118|V->M||Benign|MGI:95660|Gas6|growth arrest specific 6 [Source:MGI Symbol;Acc:MGI:95660]|Heterozygous|Homozygous null mice are protected against arterial and venous thrombosis, and though platelet aggregation is impaired, spontaneous or excess trauma-induced bleeding is not observed.|C|T|19|35.0|Non-synonymous|Alive, Line Propagating
5206268|IGL01100|6|48596905|E->G|0.9|Possibly damaging|MGI:1889817|Repin1|replication initiator 1 [Source:MGI Symbol;Acc:MGI:1889817]|Heterozygous||A|G|18|35.0|Non-synonymous|Alive, Line Propagating
5206269|IGL01100|2|91158040|R->L|1.0|Probably damaging|MGI:2444672|Madd|MAP-kinase activating death domain [Source:MGI Symbol;Acc:MGI:2444672]|Heterozygous||C|A|17|37.0|Non-synonymous|Alive, Line Propagating
5206270|IGL01100|8|121821843|Q->Stop||N/A|MGI:5141853, MGI:2384569|Gm20388,klhdc4|kelch domain containing 4 [Source:MGI Symbol;Acc:MGI:2384569],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||G|A|17|39.0|Non-synonymous|Alive, Line Propagating
5206271|IGL01100|1|74946442|A->T|1.0|Probably damaging|MGI:96533|Ihh|Indian hedgehog [Source:MGI Symbol;Acc:MGI:96533]|Heterozygous|Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones.|C|T|16|30.5|Non-synonymous|Alive, Line Propagating
5206272|IGL01100|16|37061112|P->T||Benign|MGI:2155399|Polq|polymerase (DNA directed), theta [Source:MGI Symbol;Acc:MGI:2155399]|Heterozygous|Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage.|C|A|16|38.5|Non-synonymous|Alive, Line Propagating
5206273|IGL01100|11|60511158|C->S|0.46|Possibly damaging|MGI:1261811|Myo15|myosin XV [Source:MGI Symbol;Acc:MGI:1261811]|Heterozygous|Mutations in this gene result in profound deafness and neurological behavior.|T|A|15|36.0|Non-synonymous|Alive, Line Propagating
5206274|IGL01100|16|92079222|Disrupted splicing|||MGI:1858226, MGI:2153111|Slc5a3,mrps6|mitochondrial ribosomal protein S6 [Source:MGI Symbol;Acc:MGI:2153111],solute carrier family 5 (inositol transporters), member 3 [Source:MGI Symbol;Acc:MGI:1858226]|Heterozygous|NO_PHENOTYPE,Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves.|A|G|15|40.0|Splice|Alive, Line Propagating
5206275|IGL01100|7|23835624|F->I|||MGI:3809206|Vmn1r176|vomeronasal 1 receptor 176 [Source:MGI Symbol;Acc:MGI:3809206]|Heterozygous||A|T|13|35.0|Non-synonymous|Alive, Line Propagating
5206276|IGL01100|11|9274673|Disrupted splicing|||MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||T|G|12|35.5|Splice|Alive, Line Propagating
5206277|IGL01100|1|189339936|V->A|1.0|Probably damaging|MGI:109366|Kcnk2|potassium channel, subfamily K, member 2 [Source:MGI Symbol;Acc:MGI:109366]|Heterozygous|Homozygous null mice display increased sensitivity to pharmacologically induced seizures and ischemia.|A|G|11|38.0|Non-synonymous|Alive, Line Propagating
5206887|IGL01101|1|139553584|Y->F||Benign|MGI:2138169|Cfhr1|complement factor H-related 1 [Source:MGI Symbol;Acc:MGI:2138169]|Heterozygous||T|A|82|37.0|Non-synonymous|Line Propagating
5206888|IGL01101|14|6767109|S->T|||MGI:3648195|Gm8362|predicted gene 8362 [Source:MGI Symbol;Acc:MGI:3648195]|Heterozygous||A|T|77|37.0|Non-synonymous|Line Propagating
5206889|IGL01101|2|89609847|C->Y||Benign|MGI:3031081|Olfr1247|olfactory receptor 1247 [Source:MGI Symbol;Acc:MGI:3031081]|Heterozygous||C|T|59|38.0|Non-synonymous|Line Propagating
5206890|IGL01101|2|87252462|T->K|1.0|Probably damaging|MGI:3030949|Olfr1115|olfactory receptor 1115 [Source:MGI Symbol;Acc:MGI:3030949]|Heterozygous||C|A|58|36.0|Non-synonymous|Line Propagating
5206891|IGL01101|X|75287387|T->S|0.02|Benign|MGI:88383|F8|coagulation factor VIII [Source:MGI Symbol;Acc:MGI:88383]|Heterozygous|Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.|T|A|57|39.0|Non-synonymous|Line Propagating
5206892|IGL01101|8|45745423|R->L||Benign|MGI:1924574|Sorbs2|sorbin and SH3 domain containing 2 [Source:MGI Symbol;Acc:MGI:1924574]|Heterozygous||G|T|56|38.0|Non-synonymous|Line Propagating
5206893|IGL01101|11|106255632|V->A|0.99|Probably damaging|MGI:1860295|Ftsj3|FtsJ homolog 3 (E. coli) [Source:MGI Symbol;Acc:MGI:1860295]|Heterozygous||A|G|54|34.0|Non-synonymous|Line Propagating
5206894|IGL01101|4|96339095|M->R||Benign|MGI:2140224|Cyp2j11|cytochrome P450, family 2, subfamily j, polypeptide 11 [Source:MGI Symbol;Acc:MGI:2140224]|Heterozygous||A|C|54|39.0|Non-synonymous|Line Propagating
5206895|IGL01101|14|97840204|S->I|0.76|Possibly damaging|MGI:1277991|Dach1|dachshund 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1277991]|Heterozygous|In spite of normal gross morphology, mice homozygous for targeted mutations that inactivate this gene die within 1 day of birth.|C|A|45|38.0|Non-synonymous|Line Propagating
5206896|IGL01101|16|26517877|Y->Stop||N/A|MGI:2685386|Tmem207|transmembrane protein 207 [Source:MGI Symbol;Acc:MGI:2685386]|Heterozygous||A|C|44|38.0|Non-synonymous|Line Propagating
5206897|IGL01101|13|54718135|Disrupted splicing|||MGI:2687323|Cdhr2|cadherin-related family member 2 [Source:MGI Symbol;Acc:MGI:2687323]|Heterozygous||A|G|43|36.0|Splice|Line Propagating
5206898|IGL01101|19|9012887|M->T|0.69|Possibly damaging|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|T|C|41|37.0|Non-synonymous|Line Propagating
5206899|IGL01101|4|18907098|I->F||Benign|MGI:3650508|Cnbd1|cyclic nucleotide binding domain containing 1 [Source:MGI Symbol;Acc:MGI:3650508]|Heterozygous||T|A|34|37.0|Non-synonymous|Line Propagating
5206900|IGL01101|9|7573415|D->E|1.0|Probably damaging|MGI:3039232|Mmp27|matrix metallopeptidase 27 [Source:MGI Symbol;Acc:MGI:3039232]|Heterozygous||T|A|33|37.0|Non-synonymous|Line Propagating
5206901|IGL01101|11|54119305|C->F|0.75|Possibly damaging|MGI:894286|P4ha2|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide [Source:MGI Symbol;Acc:MGI:894286]|Heterozygous||G|T|30|35.0|Non-synonymous|Line Propagating
5206902|IGL01101|14|50140054|M->K|0.06|Benign|MGI:3030562|Olfr728|olfactory receptor 728 [Source:MGI Symbol;Acc:MGI:3030562]|Heterozygous||A|T|28|38.5|Non-synonymous|Line Propagating
5206903|IGL01101|9|79898246|L->F|0.02|Benign|MGI:1917848|Filip1|filamin A interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917848]|Heterozygous||T|A|27|37.0|Non-synonymous|Line Propagating
5206904|IGL01101|4|118435552|V->A|0.86|Possibly damaging|MGI:1859866|Cdc20|cell division cycle 20 [Source:MGI Symbol;Acc:MGI:1859866]|Heterozygous|Mice homozygous for mutations in this gene display embryonic lethality with cell cycle abnormalities. Mice heterozygous for a mutation in this gene display increased tumor incidence and increased incidence of aneuploidy.|A|G|26|37.0|Non-synonymous|Line Propagating
5206905|IGL01101|6|83675857|D->G|0.27|Benign|MGI:2180021|Cd207|CD207 antigen [Source:MGI Symbol;Acc:MGI:2180021]|Heterozygous||T|C|25|38.0|Non-synonymous|Line Propagating
5206906|IGL01101|9|85732622|Disrupted splicing|||MGI:1918677|Ibtk|inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:MGI Symbol;Acc:MGI:1918677]|Heterozygous||C|A|24|40.0|Splice|Line Propagating
5206907|IGL01101|X|8271511|Disrupted splicing|||MGI:2148066|Slc38a5|solute carrier family 38, member 5 [Source:MGI Symbol;Acc:MGI:2148066]|Heterozygous||T|C|23|37.0|Splice|Line Propagating
5206908|IGL01101|X|7076184|M->K|0.07|Benign|MGI:102794|Akap4|A kinase (PRKA) anchor protein 4 [Source:MGI Symbol;Acc:MGI:102794]|Heterozygous|Inactivation of this locus results in male infertility due to impaired sperm motility. Heterozygous mutant females show no reproductive defects.|T|A|22|36.0|Non-synonymous|Line Propagating
5206909|IGL01101|16|14146736|V->I|0.31|Benign|MGI:2444505|Marf1|meiosis arrest female 1 [Source:MGI Symbol;Acc:MGI:2444505]|Heterozygous||C|T|21|39.0|Non-synonymous|Line Propagating
5206910|IGL01101|7|140296104|Q->L|0.73|Possibly damaging|MGI:2443685|5830411n06rik|RIKEN cDNA 5830411N06 gene [Source:MGI Symbol;Acc:MGI:2443685]|Heterozygous||A|T|17|37.0|Non-synonymous|Line Propagating
5206911|IGL01101|11|5793722|D->G|1.0|Probably damaging|MGI:700006|Dbnl|drebrin-like [Source:MGI Symbol;Acc:MGI:700006]|Heterozygous|Targeted mutation causes abnormal structure and function in organs including the spleen, heart and lungs. Vesicle transport is impaired in the brain and neurological impairment is observed.|A|G|16|35.5|Non-synonymous|Line Propagating
5206912|IGL01101|7|135412007|Y->C|1.0|Probably damaging|MGI:3028075|Foxi2|forkhead box I2 [Source:MGI Symbol;Acc:MGI:3028075]|Heterozygous||A|G|15|36.0|Non-synonymous|Line Propagating
5206913|IGL01101|15|94344042|D->V|1.0|Probably damaging|MGI:2660628|Adamts20|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 [Source:MGI Symbol;Acc:MGI:2660628]|Heterozygous|Homozygous mutants have a white belt across the back in the midtrunk region and a white belly patch that coalesces to form a white belt.|T|A|13|39.0|Non-synonymous|Line Propagating
5207506|IGL01102|10|129856628|I->V||Benign|MGI:3030647|Olfr813|olfactory receptor 813 [Source:MGI Symbol;Acc:MGI:3030647]|Heterozygous||A|G|300|39.0|Non-synonymous|Line Propagating
5207507|IGL01102|3|98711679|R->S|0.69|Possibly damaging|MGI:96234|Hsd3b2|hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Source:MGI Symbol;Acc:MGI:96234]|Heterozygous||G|T|258|38.0|Non-synonymous|Line Propagating
5207508|IGL01102|4|144363625|I->V||Benign|MGI:3651680|Gm13119|predicted gene 13119 [Source:MGI Symbol;Acc:MGI:3651680]|Heterozygous||A|G|163|39.0|Non-synonymous|Line Propagating
5207509|IGL01102|19|16651417|Disrupted splicing|||MGI:2444304|Vps13a|vacuolar protein sorting 13A (yeast) [Source:MGI Symbol;Acc:MGI:2444304]|Heterozygous|Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain.|A|G|137|38.0|Splice|Line Propagating
5207510|IGL01102|2|121365060|R->L|0.49|Possibly damaging|MGI:2153816|Strc|stereocilin [Source:MGI Symbol;Acc:MGI:2153816]|Heterozygous|Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology.|C|A|134|38.0|Non-synonymous|Line Propagating
5207511|IGL01102|11|30891755|V->A|0.99|Probably damaging|MGI:2441843|Gpr75|G protein-coupled receptor 75 [Source:MGI Symbol;Acc:MGI:2441843]|Heterozygous||T|C|114|38.0|Non-synonymous|Line Propagating
5207512|IGL01102|5|108842945|Disrupted splicing|||MGI:3643093|Vmn2r9|vomeronasal 2, receptor 9 [Source:MGI Symbol;Acc:MGI:3643093]|Heterozygous||A|G|110|38.0|Splice|Line Propagating
5207513|IGL01102|16|59027829|P->L|0.1|Benign|MGI:3030020|Olfr186|olfactory receptor 186 [Source:MGI Symbol;Acc:MGI:3030020]|Heterozygous||G|A|99|38.0|Non-synonymous|Line Propagating
5207514|IGL01102|3|10335309|V->A|0.04|Benign|MGI:2685251|Slc10a5|solute carrier family 10 (sodium/bile acid cotransporter family), member 5 [Source:MGI Symbol;Acc:MGI:2685251]|Heterozygous||A|G|97|36.0|Non-synonymous|Line Propagating
5207515|IGL01102|10|61614208|V->G|0.95|Possibly damaging|MGI:2685082|Npffr1|neuropeptide FF receptor 1 [Source:MGI Symbol;Acc:MGI:2685082]|Heterozygous||T|G|93|35.0|Non-synonymous|Line Propagating
5207516|IGL01102|7|23273662|I->L|0.99|Probably damaging|MGI:3647238|Gm6902|predicted gene 6902 [Source:MGI Symbol;Acc:MGI:3647238]|Heterozygous||T|A|89|40.0|Non-synonymous|Line Propagating
5207517|IGL01102|8|3688842|D->G|0.94|Possibly damaging|MGI:95497|Fcer2a|Fc receptor, IgE, low affinity II, alpha polypeptide [Source:MGI Symbol;Acc:MGI:95497]|Heterozygous|Mice homozygous for mutations in this gene are essentially normal although IgE levels or IgE mediated responses may be abnormal.|T|C|83|37.0|Non-synonymous|Line Propagating
5207518|IGL01102|18|60270052|V->A|0.48|Possibly damaging|MGI:3643814|Gm4841|predicted gene 4841 [Source:MGI Symbol;Acc:MGI:3643814]|Heterozygous||A|G|82|38.0|Non-synonymous|Line Propagating
5207519|IGL01102|11|101247627|Y->N||Benign|MGI:1859650|Ramp2|receptor (calcitonin) activity modifying protein 2 [Source:MGI Symbol;Acc:MGI:1859650]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality. Mice heterozygous for the null allele exhibit decreased litter size beyond the loss of homozygous embryos.|T|A|78|38.0|Non-synonymous|Line Propagating
5207520|IGL01102|1|93305090|R->H|1.0|Probably damaging|MGI:1918355|Mterfd2|MTERF domain containing 2 [Source:MGI Symbol;Acc:MGI:1918355]|Heterozygous||C|T|77|38.0|Non-synonymous|Line Propagating
5207521|IGL01102|5|31309037|L->P|0.03|Benign|MGI:1096345|Gckr|glucokinase regulatory protein [Source:MGI Symbol;Acc:MGI:1096345]|Heterozygous|Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis.|T|C|77|38.0|Non-synonymous|Line Propagating
5207522|IGL01102|1|82669720|D->G||Unknown|MGI:104688|Col4a3|collagen, type IV, alpha 3 [Source:MGI Symbol;Acc:MGI:104688]|Heterozygous|Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds are mildly increased across all test frequencies.|A|G|74|38.0|Non-synonymous|Line Propagating
5207523|IGL01102|7|128080273|F->L|0.02|Benign|MGI:96607|Itgam|integrin alpha M [Source:MGI Symbol;Acc:MGI:96607]|Heterozygous|Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils.|T|C|69|34.0|Non-synonymous|Line Propagating
5207524|IGL01102|17|56132761|L->I|0.22|Benign|MGI:1202889|Sema6b|sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B [Source:MGI Symbol;Acc:MGI:1202889]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles.|G|T|68|36.0|Non-synonymous|Line Propagating
5207525|IGL01102|1|163934769|C->Stop||N/A|MGI:1921385|Scyl3|SCY1-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1921385]|Heterozygous||T|A|67|37.0|Non-synonymous|Line Propagating
5207526|IGL01102|2|120021858|V->A|0.84|Possibly damaging|MGI:1347004|Mapkbp1|mitogen-activated protein kinase binding protein 1 [Source:MGI Symbol;Acc:MGI:1347004]|Heterozygous||T|C|64|36.5|Non-synonymous|Line Propagating
5207527|IGL01102|2|52619902|A->V|0.02|Benign|MGI:3702045, MGI:103301|Cacnb4,bloc1s2b|calcium channel, voltage-dependent, beta 4 subunit [Source:MGI Symbol;Acc:MGI:103301],biogenesis of lysosome-related organelles complex-1, subunit 2B [Source:MGI Symbol;Acc:MGI:3702045]|Heterozygous|Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency.,NO_PHENOTYPE|C|T|61|36.0|Non-synonymous|Line Propagating
5207528|IGL01102|15|97966944|Y->H|1.0|Probably damaging|MGI:1196384|Tmem106c|transmembrane protein 106C [Source:MGI Symbol;Acc:MGI:1196384]|Heterozygous||T|C|60|35.0|Non-synonymous|Line Propagating
5207529|IGL01102|1|82670255|I->V||Unknown|MGI:104688|Col4a3|collagen, type IV, alpha 3 [Source:MGI Symbol;Acc:MGI:104688]|Heterozygous|Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds are mildly increased across all test frequencies.|A|G|58|37.0|Non-synonymous|Line Propagating
5207530|IGL01102|10|89791378|L->P||Benign|MGI:2442888|Uhrf1bp1l|UHRF1 (ICBP90) binding protein 1-like [Source:MGI Symbol;Acc:MGI:2442888]|Heterozygous||T|C|57|39.0|Non-synonymous|Line Propagating
5207531|IGL01102|6|67423925|I->F|||MGI:2181693|Il23r|interleukin 23 receptor [Source:MGI Symbol;Acc:MGI:2181693]|Heterozygous|Th17 T cells from homozygous null mice have less secretion of IL-9 upon secondary stimulation.|T|A|54|38.0|Non-synonymous|Line Propagating
5207532|IGL01102|15|28410003|Disrupted splicing|||MGI:107718|Dnahc5|dynein, axonemal, heavy chain 5 [Source:MGI Symbol;Acc:MGI:107718]|Heterozygous|Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.|T|A|52|39.0|Splice|Line Propagating
5207533|IGL01102|12|111833219|I->T||Benign|MGI:1336199|Ppp1r13b|protein phosphatase 1, regulatory (inhibitor) subunit 13B [Source:MGI Symbol;Acc:MGI:1336199]|Heterozygous|Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels.|A|G|49|37.0|Non-synonymous|Line Propagating
5207534|IGL01102|14|55642767|T->S|1.0|Probably damaging|MGI:1921390|Tm9sf1|transmembrane 9 superfamily member 1 [Source:MGI Symbol;Acc:MGI:1921390]|Heterozygous||T|A|49|35.0|Non-synonymous|Line Propagating
5207535|IGL01102|18|10080502|D->A|0.94|Possibly damaging|MGI:107927|Rock1|Rho-associated coiled-coil containing protein kinase 1 [Source:MGI Symbol;Acc:MGI:107927]|Heterozygous|Homozygous null mice have open eyes at birth, omphalocele, and most die soon after birth as a result of cannibalization by the mom. Survivors develop inflammation of the eyelid. Another homozygous mutant shows partial lethality around implantation and reduced cardiac fibrosis after pressure overload|T|G|48|37.0|Non-synonymous|Line Propagating
5207536|IGL01102|18|76956911|N->S|1.0|Probably damaging|MGI:1924237|Hdhd2|haloacid dehalogenase-like hydrolase domain containing 2 [Source:MGI Symbol;Acc:MGI:1924237]|Heterozygous||A|G|38|35.5|Non-synonymous|Line Propagating
5207537|IGL01102|3|85665501|Disrupted splicing|||MGI:2444746|Fam160a1|family with sequence similarity 160, member A1 [Source:MGI Symbol;Acc:MGI:2444746]|Heterozygous||A|G|37|35.0|Splice|Line Propagating
5207538|IGL01102|X|7946998|S->P|0.92|Possibly damaging|MGI:1333752|Hdac6|histone deacetylase 6 [Source:MGI Symbol;Acc:MGI:1333752]|Heterozygous|Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density.|A|G|36|36.0|Non-synonymous|Line Propagating
5207539|IGL01102|15|103346675|Y->C|0.69|Possibly damaging|MGI:96604|Itga5|integrin alpha 5 (fibronectin receptor alpha) [Source:MGI Symbol;Acc:MGI:96604]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11.|T|C|35|36.0|Non-synonymous|Line Propagating
5207540|IGL01102|2|33006816|K->E|0.97|Probably damaging|MGI:2139309|Garnl3|GTPase activating RANGAP domain-like 3 [Source:MGI Symbol;Acc:MGI:2139309]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
5207541|IGL01102|5|113849614|M->K|0.02|Benign|MGI:1345964|Coro1c|coronin, actin binding protein 1C [Source:MGI Symbol;Acc:MGI:1345964]|Heterozygous||A|T|31|37.0|Non-synonymous|Line Propagating
5207542|IGL01102|13|81750006|M->T|||MGI:1920102|Mblac2|metallo-beta-lactamase domain containing 2 [Source:MGI Symbol;Acc:MGI:1920102]|Heterozygous||T|C|30|39.0|Non-synonymous|Line Propagating
5207543|IGL01102|2|25433956|Disrupted splicing|||MGI:99606|Abca2|ATP-binding cassette, sub-family A (ABC1), member 2 [Source:MGI Symbol;Acc:MGI:99606]|Heterozygous|Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,|C|T|28|35.5|Splice|Line Propagating
5207544|IGL01102|10|31608503|Y->H|0.7|Possibly damaging|MGI:3610311|Rnf217|ring finger protein 217 [Source:MGI Symbol;Acc:MGI:3610311]|Heterozygous||A|G|25|33.0|Non-synonymous|Line Propagating
5207545|IGL01102|16|45825060|L->P|1.0|Probably damaging|MGI:2444981|Phldb2|pleckstrin homology-like domain, family B, member 2 [Source:MGI Symbol;Acc:MGI:2444981]|Heterozygous||A|G|21|35.0|Non-synonymous|Line Propagating
5207546|IGL01102|7|42613909|L->Stop||N/A|MGI:3036263|9830147e19rik|RIKEN cDNA 9830147E19 gene [Source:MGI Symbol;Acc:MGI:3036263]|Heterozygous||A|T|14|40.0|Non-synonymous|Line Propagating
5207547|IGL01102|2|112367526|Disrupted splicing|||MGI:2135960, MGI:1915282|Emc4,slc12a6|ER membrane protein complex subunit 4 [Source:MGI Symbol;Acc:MGI:1915282],Slc12a6 protein; Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q6P6P5]|Heterozygous|Homozygotes for targeted null mutations exhibit locomotor deficits, reduced exploratory activity, progressive neurodegeneration, hypertension, slow progressive deafness and failure to breed.,NO_PHENOTYPE|C|A|12|36.0|Splice|Line Propagating
5208118|IGL01103|18|37357200|K->E|0.86|Possibly damaging|MGI:2136742|Pcdhb8|protocadherin beta 8 [Source:MGI Symbol;Acc:MGI:2136742]|Heterozygous||A|G|163|37.0|Non-synonymous|Alive, Line Propagating
5208119|IGL01103|12|70056758|T->I|0.17|Benign|MGI:105108|Nin|ninein [Source:MGI Symbol;Acc:MGI:105108]|Heterozygous||G|A|133|39.0|Non-synonymous|Alive, Line Propagating
5208120|IGL01103|18|44275518|E->G|0.07|Benign|MGI:1098590|Npy6r|neuropeptide Y receptor Y6 [Source:MGI Symbol;Acc:MGI:1098590]|Heterozygous||A|G|90|37.0|Non-synonymous|Alive, Line Propagating
5208121|IGL01103|8|106555305|Y->C|1.0|Probably damaging|MGI:88356|Cdh3|cadherin 3 [Source:MGI Symbol;Acc:MGI:88356]|Heterozygous|Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands.|A|G|86|35.0|Non-synonymous|Alive, Line Propagating
5208122|IGL01103|7|102001571|V->A|0.92|Possibly damaging|MGI:2443665|Numa1|nuclear mitotic apparatus protein 1 [Source:MGI Symbol;Acc:MGI:2443665]|Heterozygous|Mice homozygous for a knock-out or hypomorphic allele exhibit embryonic lethality by E9.5.|T|C|74|35.0|Non-synonymous|Alive, Line Propagating
5208123|IGL01103|2|156044441|Disrupted splicing|||MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||C|T|71|35.0|Splice|Alive, Line Propagating
5208124|IGL01103|5|123764220|S->T|0.98|Probably damaging|MGI:2673709|Kntc1|kinetochore associated 1 [Source:MGI Symbol;Acc:MGI:2673709]|Heterozygous||T|A|64|35.0|Non-synonymous|Alive, Line Propagating
5208125|IGL01103|2|36134172|R->Stop||N/A|MGI:1915139|Rbm18|RNA binding motif protein 18 [Source:MGI Symbol;Acc:MGI:1915139]|Heterozygous||G|A|61|37.0|Non-synonymous|Alive, Line Propagating
5208126|IGL01103|10|34126365|C->S||Benign|MGI:2443082|Fam26f|family with sequence similarity 26, member F [Source:MGI Symbol;Acc:MGI:2443082]|Heterozygous||A|T|55|36.0|Non-synonymous|Alive, Line Propagating
5208127|IGL01103|6|41397157|V->D|1.0|Probably damaging|MGI:3646222|Gm5771|predicted gene 5771 [Source:MGI Symbol;Acc:MGI:3646222]|Heterozygous||T|A|54|36.0|Non-synonymous|Alive, Line Propagating
5208128|IGL01103|15|81922496|N->Y|0.87|Possibly damaging|MGI:1926179|Polr3h|polymerase (RNA) III (DNA directed) polypeptide H [Source:MGI Symbol;Acc:MGI:1926179]|Heterozygous||T|A|52|37.0|Non-synonymous|Alive, Line Propagating
5208129|IGL01103|7|104329899|C->R|||MGI:4821264|Trim34b|tripartite motif-containing 34B [Source:MGI Symbol;Acc:MGI:4821264]|Heterozygous||T|C|49|39.0|Non-synonymous|Alive, Line Propagating
5208130|IGL01103|18|58556764|S->T||Benign|MGI:3036230|Slc27a6|solute carrier family 27 (fatty acid transporter), member 6 [Source:MGI Symbol;Acc:MGI:3036230]|Heterozygous||T|A|41|37.0|Non-synonymous|Alive, Line Propagating
5208131|IGL01103|9|32423940|N->D|1.0|Probably damaging|MGI:95554|Fli1|Friend leukemia integration 1 [Source:MGI Symbol;Acc:MGI:95554]|Heterozygous|Mice homozygous for most knock-out allele exhibit abnormal hematopoietic and immune systems.|T|C|39|38.0|Non-synonymous|Alive, Line Propagating
5208132|IGL01103|3|138547651|Disrupted splicing|||MGI:95305|Eif4e|eukaryotic translation initiation factor 4E [Source:MGI Symbol;Acc:MGI:95305]|Heterozygous|Mice homozygous for a knock-in allele exhibit resistance to developing prostate intraepithelial neoplasia.|A|G|34|39.0|Splice|Alive, Line Propagating
5208133|IGL01103|1|163261962|T->A|1.0|Probably damaging|MGI:97712|Prrx1|paired related homeobox 1 [Source:MGI Symbol;Acc:MGI:97712]|Heterozygous|Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality.|T|C|32|37.0|Non-synonymous|Alive, Line Propagating
5208134|IGL01103|17|35024942|V->A|0.97|Probably damaging|MGI:1306798|Vwa7|von Willebrand factor A domain containing 7 [Source:MGI Symbol;Acc:MGI:1306798]|Heterozygous||T|C|32|35.0|Non-synonymous|Alive, Line Propagating
5208135|IGL01103|1|119567847|D->G||Benign|MGI:103006|Epb4.1l5|erythrocyte protein band 4.1-like 5 [Source:MGI Symbol;Acc:MGI:103006]|Heterozygous|Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation.|T|C|31|39.0|Non-synonymous|Alive, Line Propagating
5208136|IGL01103|6|53819038|Y->H|1.0|Probably damaging|MGI:1914123|Tril|TLR4 interactor with leucine-rich repeats [Source:MGI Symbol;Acc:MGI:1914123]|Heterozygous||A|G|31|33.0|Non-synonymous|Alive, Line Propagating
5208137|IGL01103|5|110655863|A->V||Benign|MGI:1916913|Ddx51|DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 [Source:MGI Symbol;Acc:MGI:1916913]|Heterozygous||C|T|28|35.0|Non-synonymous|Alive, Line Propagating
5208138|IGL01103|8|69743126|T->A|0.73|Possibly damaging|MGI:5141887, MGI:4867078|Gm20422,zfp963|zinc finger protein 963 [Source:MGI Symbol;Acc:MGI:4867078],predicted gene 20422 [Source:MGI Symbol;Acc:MGI:5141887]|Heterozygous||T|C|28|38.0|Non-synonymous|Alive, Line Propagating
5208139|IGL01103|14|75227093|Disrupted splicing|||MGI:104808|Lcp1|lymphocyte cytosolic protein 1 [Source:MGI Symbol;Acc:MGI:104808]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils.|T|A|20|36.5|Splice|Alive, Line Propagating
5208140|IGL01103|6|48597953|Disrupted splicing|||MGI:1889817|Repin1|replication initiator 1 [Source:MGI Symbol;Acc:MGI:1889817]|Heterozygous||G|T|20|34.5|Splice|Alive, Line Propagating
5208141|IGL01103|17|87746767|G->R|0.99|Probably damaging|MGI:2684043|Kcnk12|potassium channel, subfamily K, member 12 [Source:MGI Symbol;Acc:MGI:2684043]|Heterozygous||C|T|18|35.0|Non-synonymous|Alive, Line Propagating
5208142|IGL01103|2|120701847|N->D|||MGI:3045258|Stard9|START domain containing 9 [Source:MGI Symbol;Acc:MGI:3045258]|Heterozygous||A|G|17|34.0|Non-synonymous|Alive, Line Propagating
5208143|IGL01103|14|51145622|N->D|0.07|Benign|MGI:97919|Rnase1|ribonuclease, RNase A family, 1 (pancreatic) [Source:MGI Symbol;Acc:MGI:97919]|Heterozygous||T|C|16|36.0|Non-synonymous|Alive, Line Propagating
5208144|IGL01103|5|134492350|S->P|0.96|Probably damaging|MGI:1313136|Clip2|CAP-GLY domain containing linker protein 2 [Source:MGI Symbol;Acc:MGI:1313136]|Heterozygous|Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination.|A|G|15|37.0|Non-synonymous|Alive, Line Propagating
5208145|IGL01103|9|58880799|C->R|0.01|Benign|MGI:1097159|Neo1|neogenin [Source:MGI Symbol;Acc:MGI:1097159]|Heterozygous|Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development.|A|G|12|32.0|Non-synonymous|Alive, Line Propagating
5208147|IGL01103|16|44243543|C->Stop||N/A|MGI:2443155|Sidt1|SID1 transmembrane family, member 1 [Source:MGI Symbol;Acc:MGI:2443155]|Heterozygous||A|T|10|35.0|Non-synonymous|Alive, Line Propagating
5208775|IGL01104|12|24584454|K->R|1.0|Probably damaging|MGI:2182540|Grhl1|grainyhead-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2182540]|Heterozygous|Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation.|A|G|95|38.0|Non-synonymous|Alive, Line Propagating
5208776|IGL01104|4|132711929|F->L|1.0|Probably damaging|MGI:109339|Eya3|eyes absent 3 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:109339]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior.|T|A|64|35.5|Non-synonymous|Alive, Line Propagating
5208777|IGL01104|X|71667227|L->H|1.0|Probably damaging|MGI:1333877|Gpr50|G-protein-coupled receptor 50 [Source:MGI Symbol;Acc:MGI:1333877]|Heterozygous|Mice homozygous for a targeted disruption of this gene display alterations in energy balance and metabolism.|T|A|61|38.0|Non-synonymous|Alive, Line Propagating
5208778|IGL01104|7|84940788|I->T|||MGI:3642776|Vmn2r65|vomeronasal 2, receptor 65 [Source:MGI Symbol;Acc:MGI:3642776]|Heterozygous||A|G|57|39.0|Non-synonymous|Alive, Line Propagating
5208779|IGL01104|9|16375728|V->G|0.94|Possibly damaging|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||A|C|54|38.0|Non-synonymous|Alive, Line Propagating
5208780|IGL01104|7|7396566|C->S|||MGI:3757688|Vmn2r31|vomeronasal 2, receptor 31 [Source:MGI Symbol;Acc:MGI:3757688]|Heterozygous||A|T|51|39.0|Non-synonymous|Alive, Line Propagating
5208781|IGL01104|X|93971887|D->V|0.86|Possibly damaging|MGI:2147954|Au015836|expressed sequence AU015836 [Source:MGI Symbol;Acc:MGI:2147954]|Heterozygous||A|T|50|35.0|Non-synonymous|Alive, Line Propagating
5208782|IGL01104|8|85231184|T->A|0.49|Possibly damaging|MGI:3030205|Olfr371|olfactory receptor 371 [Source:MGI Symbol;Acc:MGI:3030205]|Heterozygous||A|G|45|37.0|Non-synonymous|Alive, Line Propagating
5208783|IGL01104|2|137084378|I->L|0.24|Benign|MGI:1095416|Jag1|jagged 1 [Source:MGI Symbol;Acc:MGI:1095416]|Heterozygous|Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements.|T|A|42|37.0|Non-synonymous|Alive, Line Propagating
5208784|IGL01104|11|94543640|T->A|0.93|Possibly damaging|MGI:3039628|Rsad1|radical S-adenosyl methionine domain containing 1 [Source:MGI Symbol;Acc:MGI:3039628]|Heterozygous||T|C|39|36.0|Non-synonymous|Alive, Line Propagating
5208785|IGL01104|2|160909783|V->E|1.0|Probably damaging|MGI:2389142|Emilin3|elastin microfibril interfacer 3 [Source:MGI Symbol;Acc:MGI:2389142]|Heterozygous||A|T|39|36.0|Non-synonymous|Alive, Line Propagating
5208786|IGL01104|X|13160903|V->A|0.64|Possibly damaging|MGI:894681|Usp9x|ubiquitin specific peptidase 9, X chromosome [Source:MGI Symbol;Acc:MGI:894681]|Heterozygous||T|C|39|38.0|Non-synonymous|Alive, Line Propagating
5208787|IGL01104|9|15998460|L->H|1.0|Probably damaging|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||A|T|38|37.0|Non-synonymous|Alive, Line Propagating
5208788|IGL01104|19|4356738|Disrupted splicing|||MGI:1354736|Kdm2a|lysine (K)-specific demethylase 2A [Source:MGI Symbol;Acc:MGI:1354736]|Heterozygous||A|G|37|38.0|Splice|Alive, Line Propagating
5208789|IGL01104|15|99843700|S->A|0.99|Probably damaging|MGI:1920992|Lima1|LIM domain and actin binding 1 [Source:MGI Symbol;Acc:MGI:1920992]|Heterozygous||A|C|32|37.0|Non-synonymous|Alive, Line Propagating
5208790|IGL01104|6|125683556|C->R|1.0|Probably damaging|MGI:98941|Vwf|Von Willebrand factor homolog [Source:MGI Symbol;Acc:MGI:98941]|Heterozygous|Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood.|T|C|31|38.0|Non-synonymous|Alive, Line Propagating
5208791|IGL01104|12|102493814|M->K|0.92|Possibly damaging|MGI:1351475|Golga5|golgi autoantigen, golgin subfamily a, 5 [Source:MGI Symbol;Acc:MGI:1351475]|Heterozygous||T|A|30|36.5|Non-synonymous|Alive, Line Propagating
5208792|IGL01104|5|21986967|R->G|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|T|C|29|35.0|Non-synonymous|Alive, Line Propagating
5208793|IGL01104|8|92901755|D->Y|1.0|Probably damaging|MGI:1916793, MGI:3606214|Lpcat2,capns2|lysophosphatidylcholine acyltransferase 2 [Source:MGI Symbol;Acc:MGI:3606214],calpain, small subunit 2 [Source:MGI Symbol;Acc:MGI:1916793]|Heterozygous||G|T|24|38.0|Non-synonymous|Alive, Line Propagating
5208794|IGL01104|17|29336222|D->G|1.0|Probably damaging|MGI:1929261|Mtch1|mitochondrial carrier homolog 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1929261]|Heterozygous||T|C|23|35.0|Non-synonymous|Alive, Line Propagating
5208795|IGL01104|19|8607965|T->A|0.19|Benign|MGI:1336187|Slc22a8|solute carrier family 22 (organic anion transporter), member 8 [Source:MGI Symbol;Acc:MGI:1336187]|Heterozygous|Mice homozygous for a null allele exhibit decreased urinary urate levels.|A|G|22|32.5|Non-synonymous|Alive, Line Propagating
5208796|IGL01104|5|148077009|A->V|0.01|Benign|MGI:1915388|Mtus2|microtubule associated tumor suppressor candidate 2 [Source:MGI Symbol;Acc:MGI:1915388]|Heterozygous||C|T|21|32.0|Non-synonymous|Alive, Line Propagating
5208797|IGL01104|10|77547194|M->V|1.0|Probably damaging|MGI:96611|Itgb2|integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]|Heterozygous|Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.|A|G|20|36.0|Non-synonymous|Alive, Line Propagating
5208798|IGL01104|16|18814837|F->S|1.0|Probably damaging|MGI:109353|Ufd1l|ubiquitin fusion degradation 1 like [Source:MGI Symbol;Acc:MGI:109353]|Heterozygous|Mice heterozygous for a knock-out allele are viable with no obvious heart defects.|T|C|20|39.5|Non-synonymous|Alive, Line Propagating
5208799|IGL01104|8|13055686|G->D|1.0|Probably damaging|MGI:103107|F10|coagulation factor X [Source:MGI Symbol;Acc:MGI:103107]|Heterozygous|Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages.|G|A|20|37.0|Non-synonymous|Alive, Line Propagating
5208800|IGL01104|1|89726075|Disrupted splicing|||MGI:2653690|Agap1|ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 [Source:MGI Symbol;Acc:MGI:2653690]|Heterozygous||T|A|19|37.0|Splice|Alive, Line Propagating
5208801|IGL01104|1|170874473|H->P|0.53|Possibly damaging|MGI:1890614|Dusp12|dual specificity phosphatase 12 [Source:MGI Symbol;Acc:MGI:1890614]|Heterozygous||T|G|18|38.0|Non-synonymous|Alive, Line Propagating
5208802|IGL01104|1|135364784|T->I|||MGI:2135671|Lmod1|leiomodin 1 (smooth muscle) [Source:MGI Symbol;Acc:MGI:2135671]|Heterozygous||C|T|17|34.0|Non-synonymous|Alive, Line Propagating
5208803|IGL01104|16|5094491|Q->R|||MGI:1194898|Ppl|periplakin [Source:MGI Symbol;Acc:MGI:1194898]|Heterozygous|Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities.|T|C|16|37.0|Non-synonymous|Alive, Line Propagating
5208805|IGL01104|3|69027584|I->T|0.04|Benign|MGI:1917349|Smc4|structural maintenance of chromosomes 4 [Source:MGI Symbol;Acc:MGI:1917349]|Heterozygous||T|C|13|38.0|Non-synonymous|Alive, Line Propagating
5208806|IGL01104|2|160961927|R->Q|1.0|Probably damaging|MGI:1918639|Chd6|chromodomain helicase DNA binding protein 6 [Source:MGI Symbol;Acc:MGI:1918639]|Heterozygous|Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia.|C|T|11|37.0|Non-synonymous|Alive, Line Propagating
5209419|IGL01105|7|86811664|I->F|||MGI:3643879|Vmn2r77|vomeronasal 2, receptor 77 [Source:MGI Symbol;Acc:MGI:3643879]|Heterozygous||A|T|266|39.0|Non-synonymous|Alive, Line Propagating
5209420|IGL01105|11|99948633|I->M||Unknown|MGI:3650333|Krtap9-5|keratin associated protein 9-5 [Source:MGI Symbol;Acc:MGI:3650333]|Heterozygous||A|G|162|37.0|Non-synonymous|Alive, Line Propagating
5209421|IGL01105|15|98878498|E->D||Benign|MGI:1916409|Rhebl1|Ras homolog enriched in brain like 1 [Source:MGI Symbol;Acc:MGI:1916409]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with no gross defects.|C|A|147|36.0|Non-synonymous|Alive, Line Propagating
5209422|IGL01105|13|77100912|Disrupted splicing|||MGI:2145448|Ankrd32|ankyrin repeat domain 32 [Source:MGI Symbol;Acc:MGI:2145448]|Heterozygous|Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes do not show any major cell cycle defects.|T|C|127|39.0|Splice|Alive, Line Propagating
5209423|IGL01105|5|98004943|Disrupted splicing|||MGI:1919164|Antxr2|anthrax toxin receptor 2 [Source:MGI Symbol;Acc:MGI:1919164]|Heterozygous|Mice homozygous for a null mutation display femaly infertility and are highly resistant to Bacillus anthracis or anthrax toxin induced lethality.|G|T|89|38.0|Splice|Alive, Line Propagating
5209424|IGL01105|8|66418877|T->S||Benign|MGI:1920175|March1|membrane-associated ring finger (C3HC4) 1 [Source:MGI Symbol;Acc:MGI:1920175]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology.|A|T|85|35.0|Non-synonymous|Alive, Line Propagating
5209425|IGL01105|18|38275347|E->D|||MGI:1855700|Pcdh12|protocadherin 12 [Source:MGI Symbol;Acc:MGI:1855700]|Heterozygous|Mice homozygous for a targeted mutation are viable, fertile and do not display any obvious histomorphological abnormalities.|T|A|81|34.0|Non-synonymous|Alive, Line Propagating
5209426|IGL01105|18|77133156|D->E|1.0|Probably damaging|MGI:1096566|Pias2|protein inhibitor of activated STAT 2 [Source:MGI Symbol;Acc:MGI:1096566]|Heterozygous|An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.|T|A|81|38.0|Non-synonymous|Alive, Line Propagating
5209427|IGL01105|13|27202425|V->A|0.01|Benign|MGI:1351649|Prl3c1|prolactin family 3, subfamily c, member 1 [Source:MGI Symbol;Acc:MGI:1351649]|Heterozygous||T|C|79|39.0|Non-synonymous|Alive, Line Propagating
5209428|IGL01105|4|154972465|Disrupted splicing|||MGI:2387466|Pank4|pantothenate kinase 4 [Source:MGI Symbol;Acc:MGI:2387466]|Heterozygous||C|T|76|35.0|Splice|Alive, Line Propagating
5209429|IGL01105|8|69902812|T->A|0.21|Benign|MGI:2148775|Tssk6|testis-specific serine kinase 6 [Source:MGI Symbol;Acc:MGI:2148775]|Heterozygous|Homozygous null males are infertile and exhibit decreased sperm numbers and sperm motility, abnormal sperm head morphology and reduced DNA compaction in spermatozoa.|A|G|72|32.5|Non-synonymous|Alive, Line Propagating
5209430|IGL01105|9|107995861|Disrupted splicing|||MGI:1916648|Cdhr4|cadherin-related family member 4 [Source:MGI Symbol;Acc:MGI:1916648]|Heterozygous||C|T|71|37.0|Splice|Alive, Line Propagating
5209431|IGL01105|9|15089024|T->A|0.72|Possibly damaging|MGI:2685355|Hephl1|hephaestin-like 1 [Source:MGI Symbol;Acc:MGI:2685355]|Heterozygous||T|C|70|37.0|Non-synonymous|Alive, Line Propagating
5209432|IGL01105|9|49010250|V->E|1.0|Probably damaging|MGI:2442293|Usp28|ubiquitin specific peptidase 28 [Source:MGI Symbol;Acc:MGI:2442293]|Heterozygous||T|A|66|38.0|Non-synonymous|Alive, Line Propagating
5209433|IGL01105|19|23331002|D->V|0.45|Possibly damaging|MGI:1918988|Mamdc2|MAM domain containing 2 [Source:MGI Symbol;Acc:MGI:1918988]|Heterozygous||T|A|58|38.0|Non-synonymous|Alive, Line Propagating
5209434|IGL01105|8|66704776|K->R||Benign|MGI:104963|Npy1r|neuropeptide Y receptor Y1 [Source:MGI Symbol;Acc:MGI:104963]|Heterozygous|Homozygotes for targeted null mutations exhibit moderate obesity, mild hyperinsulinemia, reduced activity and energy expenditure, lowered fast-induced refeeding, hyperalgesia, increased neuropathic pain, and resistance to barbiturates.|A|G|58|38.0|Non-synonymous|Alive, Line Propagating
5209435|IGL01105|11|105972059|V->E|1.0|Probably damaging|MGI:87874|Ace|angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 [Source:MGI Symbol;Acc:MGI:87874]|Heterozygous|Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility.|T|A|57|35.0|Non-synonymous|Alive, Line Propagating
5209436|IGL01105|2|112751805|S->P|0.98|Probably damaging|MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|A|G|57|36.0|Non-synonymous|Alive, Line Propagating
5209437|IGL01105|11|32577740|V->L|0.08|Benign|MGI:1099439|Stk10|serine/threonine kinase 10 [Source:MGI Symbol;Acc:MGI:1099439]|Heterozygous|Targeted disruption of this gene results in enhanced cell adhesion in mitogen-stimulated T cells.|G|T|56|36.0|Non-synonymous|Alive, Line Propagating
5209438|IGL01105|3|54362710|I->S|0.99|Probably damaging|MGI:1926321|Postn|periostin, osteoblast specific factor [Source:MGI Symbol;Acc:MGI:1926321]|Heterozygous|Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities.|T|G|56|37.0|Non-synonymous|Alive, Line Propagating
5209439|IGL01105|11|3355475|Disrupted splicing|||MGI:1197517|Limk2|LIM motif-containing protein kinase 2 [Source:MGI Symbol;Acc:MGI:1197517]|Heterozygous|Male homozygotes for targeted null mutations exhibit small testes and partial degeneration of spermatogenic cells in the seminiferous tubules, but are fertile. Mutant kidneys have fewer glomeruli and dilated renal tubules, but function normally.|G|A|45|36.0|Splice|Alive, Line Propagating
5209440|IGL01105|10|50981534|H->R|0.11|Benign|MGI:98306|Sim1|single-minded homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:98306]|Heterozygous|Mice homozygous for disruptions of this gene die at birth with abnormalities in the paraventricular and supraoptic nuclei. Heterozygous mutant mice are obese and may also be diabetic, hyperinsulinemic and insulin resistant.|A|G|42|31.5|Non-synonymous|Alive, Line Propagating
5209441|IGL01105|4|109661626|V->I|1.0|Probably damaging|MGI:105388|Cdkn2c|cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) [Source:MGI Symbol;Acc:MGI:105388]|Heterozygous|Homozygotes for targeted null mutations exhibit kidney and mammary gland cortical cysts, Leydig cell hyperplasia, reduced testosterone levels, late developing thymic lymphomas and pituitary tumors, gigantism, and organomegaly.|C|T|42|38.0|Non-synonymous|Alive, Line Propagating
5209442|IGL01105|15|77781478|M->I||Benign|MGI:107717|Myh9|myosin, heavy polypeptide 9, non-muscle [Source:MGI Symbol;Acc:MGI:107717]|Heterozygous|Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance but no kidney or hematopoietic defects. Mice homozygous for a conditional allele activated in T cells exhibit impaired T cell migration and adhesion.|C|T|41|30.0|Non-synonymous|Alive, Line Propagating
5209443|IGL01105|19|44298058|I->N|0.33|Benign|MGI:98240|Scd2|stearoyl-Coenzyme A desaturase 2 [Source:MGI Symbol;Acc:MGI:98240]|Heterozygous|Homozygous null mice display neonatal lethality with variable penetrance depending on stain background, impaired skin barrier function, abnormal epidermal morphology, and abnormal lipid homeostasis in the skin and liver.|T|A|41|37.0|Non-synonymous|Alive, Line Propagating
5209444|IGL01105|3|104464168|R->Stop||N/A|MGI:2443718|Lrig2|leucine-rich repeats and immunoglobulin-like domains 2 [Source:MGI Symbol;Acc:MGI:2443718]|Heterozygous||G|A|41|38.0|Non-synonymous|Alive, Line Propagating
5209445|IGL01105|7|55933445|I->N|1.0|Probably damaging|MGI:1913918|Nipa2|non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) [Source:MGI Symbol;Acc:MGI:1913918]|Heterozygous||A|T|40|38.0|Non-synonymous|Alive, Line Propagating
5209447|IGL01105|16|78941263|Y->H|1.0|Probably damaging|MGI:2179069|Chodl|chondrolectin [Source:MGI Symbol;Acc:MGI:2179069]|Heterozygous||T|C|30|38.0|Non-synonymous|Alive, Line Propagating
5209448|IGL01105|8|126298814|P->Q|1.0|Probably damaging|MGI:2444426|Slc35f3|solute carrier family 35, member F3 [Source:MGI Symbol;Acc:MGI:2444426]|Heterozygous||C|A|30|35.0|Non-synonymous|Alive, Line Propagating
5209449|IGL01105|2|26209685|V->A|0.77|Possibly damaging|MGI:2387194|Qsox2|quiescin Q6 sulfhydryl oxidase 2 [Source:MGI Symbol;Acc:MGI:2387194]|Heterozygous||A|G|29|38.0|Non-synonymous|Alive, Line Propagating
5209450|IGL01105|19|25424316|S->T|0.71|Possibly damaging|MGI:2147707|Kank1|KN motif and ankyrin repeat domains 1 [Source:MGI Symbol;Acc:MGI:2147707]|Heterozygous||T|A|28|35.5|Non-synonymous|Alive, Line Propagating
5209451|IGL01105|8|88161893|D->G|0.03|Benign|MGI:2444491|Heatr3|HEAT repeat containing 3 [Source:MGI Symbol;Acc:MGI:2444491]|Heterozygous||A|G|26|36.5|Non-synonymous|Alive, Line Propagating
5209452|IGL01105|6|108381333|S->N|0.01|Benign|MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|G|A|25|35.0|Non-synonymous|Alive, Line Propagating
5209453|IGL01105|11|105328741|D->G|0.79|Possibly damaging|MGI:107818|Mrc2|mannose receptor, C type 2 [Source:MGI Symbol;Acc:MGI:107818]|Heterozygous|Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.|A|G|23|34.0|Non-synonymous|Alive, Line Propagating
5209454|IGL01105|5|92249196|S->P|0.36|Benign|MGI:1342304|Ppef2|protein phosphatase, EF hand calcium-binding domain 2 [Source:MGI Symbol;Acc:MGI:1342304]|Heterozygous|Homozygotes for a targeted null mutation appear to be phenotypically normal.|A|G|22|35.5|Non-synonymous|Alive, Line Propagating
5209455|IGL01105|6|23321700|Disrupted splicing|||MGI:2443963|Cadps2|Ca2+-dependent activator protein for secretion 2 [Source:MGI Symbol;Acc:MGI:2443963]|Heterozygous|Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior.|A|G|22|38.0|Splice|Alive, Line Propagating
5209456|IGL01105|8|109662241|V->L|0.74|Possibly damaging|MGI:2664670|Pkd1l3|polycystic kidney disease 1 like 3 [Source:MGI Symbol;Acc:MGI:2664670]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function.|G|T|22|34.5|Non-synonymous|Alive, Line Propagating
5209457|IGL01105|2|155067361|D->G|0.04|Benign|MGI:87968|Ahcy|S-adenosylhomocysteine hydrolase [Source:MGI Symbol;Acc:MGI:87968]|Heterozygous|See the ax allele for a deletion that includes the Ahcy gene.|T|C|19|35.0|Non-synonymous|Alive, Line Propagating
5210035|IGL01106|15|98650940|R->Q|0.95|Possibly damaging|MGI:1921601|Ddx23|DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 [Source:MGI Symbol;Acc:MGI:1921601]|Heterozygous||C|T|144|36.0|Non-synonymous|Line Propagating
5210036|IGL01106|3|146137264|T->A||Benign|MGI:1890500|Mcoln3|mucolipin 3 [Source:MGI Symbol;Acc:MGI:1890500]|Heterozygous|Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile.|A|G|109|37.0|Non-synonymous|Line Propagating
5210037|IGL01106|1|22379447|D->V|||MGI:2152971|Rims1|regulating synaptic membrane exocytosis 1 [Source:MGI Symbol;Acc:MGI:2152971]|Heterozygous|Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.|T|A|107|35.0|Non-synonymous|Line Propagating
5210038|IGL01106|2|91695952|D->G|1.0|Probably damaging|MGI:1196429|Atg13|autophagy related 13 [Source:MGI Symbol;Acc:MGI:1196429]|Heterozygous||T|C|92|35.0|Non-synonymous|Line Propagating
5210039|IGL01106|2|86146216|V->M|0.03|Benign|MGI:3030874|Olfr1040|olfactory receptor 1040 [Source:MGI Symbol;Acc:MGI:3030874]|Heterozygous||C|T|91|37.0|Non-synonymous|Line Propagating
5210040|IGL01106|19|30585278|I->L||Benign|MGI:108174|Prkg1|protein kinase, cGMP-dependent, type I [Source:MGI Symbol;Acc:MGI:108174]|Heterozygous|Mutant mice exhibit defects associated with disrupted NO/cGMP signalling, including abnormal smooth muscle function (peristalsis and heart contractility) and penile erectile deficiency. Conditional disruption in the hippocampus results in impaired LTP.|T|A|67|38.0|Non-synonymous|Line Propagating
5210041|IGL01106|1|131260055|Disrupted splicing|||MGI:1929612|Ikbke|inhibitor of kappaB kinase epsilon [Source:MGI Symbol;Acc:MGI:1929612]|Heterozygous|Homozygous null mice are viable and fertile.|A|G|66|38.0|Splice|Line Propagating
5210042|IGL01106|10|70448816|Disrupted splicing|||MGI:1918971|Fam13c|family with sequence similarity 13, member C [Source:MGI Symbol;Acc:MGI:1918971]|Heterozygous||T|C|64|36.0|Splice|Line Propagating
5210043|IGL01106|4|132370805|F->S|0.06|Benign|MGI:2140327|Phactr4|phosphatase and actin regulator 4 [Source:MGI Symbol;Acc:MGI:2140327]|Heterozygous|Mice homozygous for a null allele exhibit embryonic and neonatal lethality, exencephaly, neural tube defects, coloboma, and altered cell cycles.|A|G|49|38.0|Non-synonymous|Line Propagating
5210044|IGL01106|3|131240970|Y->N|0.94|Possibly damaging|MGI:96009|Hadh|hydroxyacyl-Coenzyme A dehydrogenase [Source:MGI Symbol;Acc:MGI:96009]|Heterozygous||A|T|45|34.0|Non-synonymous|Line Propagating
5210045|IGL01106|4|136572328|Disrupted splicing|||MGI:1196256|Kdm1a|lysine (K)-specific demethylase 1A [Source:MGI Symbol;Acc:MGI:1196256]|Heterozygous|Mice homozygous for a null allele exhibit early embryonic lethality (E7.5) due to failure of egg cylinder elongation, and failure to gastrulate.|A|G|45|39.0|Splice|Line Propagating
5210046|IGL01106|12|30257988|K->Stop||N/A|MGI:1919541|Sntg2|syntrophin, gamma 2 [Source:MGI Symbol;Acc:MGI:1919541]|Heterozygous||T|A|44|36.0|Non-synonymous|Line Propagating
5210047|IGL01106|16|33035600|I->L|1.0|Probably damaging|MGI:1916957|Iqcg|IQ motif containing G [Source:MGI Symbol;Acc:MGI:1916957]|Heterozygous||T|A|44|38.0|Non-synonymous|Line Propagating
5210048|IGL01106|3|107037864|E->G|0.41|Benign|MGI:96660|Kcna3|potassium voltage-gated channel, shaker-related subfamily, member 3 [Source:MGI Symbol;Acc:MGI:96660]|Heterozygous|Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism.|A|G|44|36.0|Non-synonymous|Line Propagating
5210049|IGL01106|4|82922257|T->A|0.08|Benign|MGI:2670972|Frem1|Fras1 related extracellular matrix protein 1 [Source:MGI Symbol;Acc:MGI:2670972]|Heterozygous||T|C|44|38.0|Non-synonymous|Line Propagating
5210050|IGL01106|9|119102785|E->K|0.06|Benign|MGI:2443671|Dlec1|deleted in lung and esophageal cancer 1 [Source:MGI Symbol;Acc:MGI:2443671]|Heterozygous||G|A|43|37.0|Non-synonymous|Line Propagating
5210051|IGL01106|1|132521884|Disrupted splicing|||MGI:104518|Cntn2|contactin 2 [Source:MGI Symbol;Acc:MGI:104518]|Heterozygous|Targeted mutation of this locus results in molecular abnormalities in the central nervous system.|A|G|40|37.0|Splice|Line Propagating
5210052|IGL01106|2|125351706|T->A|0.02|Benign|MGI:95489|Fbn1|fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]|Heterozygous|Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema.|T|C|40|37.5|Non-synonymous|Line Propagating
5210053|IGL01106|5|123762603|K->E||Benign|MGI:2673709|Kntc1|kinetochore associated 1 [Source:MGI Symbol;Acc:MGI:2673709]|Heterozygous||A|G|39|39.0|Non-synonymous|Line Propagating
5210054|IGL01106|7|4541157|T->A|1.0|Probably damaging|MGI:1926368|Syt5|synaptotagmin V [Source:MGI Symbol;Acc:MGI:1926368]|Heterozygous||T|C|38|36.0|Non-synonymous|Line Propagating
5210055|IGL01106|7|118983861|K->E|0.01|Benign|MGI:1927596|Gprc5b|G protein-coupled receptor, family C, group 5, member B [Source:MGI Symbol;Acc:MGI:1927596]|Heterozygous||T|C|37|35.0|Non-synonymous|Line Propagating
5210056|IGL01106|11|45933663|Q->Stop||N/A|MGI:1919540|Lsm11|U7 snRNP-specific Sm-like protein LSM11 [Source:MGI Symbol;Acc:MGI:1919540]|Heterozygous||G|A|36|35.0|Non-synonymous|Line Propagating
5210057|IGL01106|9|124350452|Disrupted splicing|||MGI:3700744|Nlrp4g|NLR family, pyrin domain containing 4G [Source:MGI Symbol;Acc:MGI:3700744]|Heterozygous||A|T|33|40.0|Splice|Line Propagating
5210058|IGL01106|1|132304700|S->C|0.01|Benign|MGI:2442630|Klhdc8a|kelch domain containing 8A [Source:MGI Symbol;Acc:MGI:2442630]|Heterozygous||A|T|31|35.0|Non-synonymous|Line Propagating
5210059|IGL01106|9|66476438|Disrupted splicing|||MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|T|A|31|37.0|Splice|Line Propagating
5210060|IGL01106|13|93084612|L->P|1.0|Probably damaging|MGI:1923719|Cmya5|cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]|Heterozygous||A|G|26|37.0|Non-synonymous|Line Propagating
5210062|IGL01106|3|41675319|Disrupted splicing|||MGI:1914411|Sclt1|sodium channel and clathrin linker 1 [Source:MGI Symbol;Acc:MGI:1914411]|Heterozygous||T|C|25|37.0|Splice|Line Propagating
5210063|IGL01106|13|49654481|I->V|0.15|Benign|MGI:1918180|Nol8|nucleolar protein 8 [Source:MGI Symbol;Acc:MGI:1918180]|Heterozygous||A|G|21|37.0|Non-synonymous|Line Propagating
5210064|IGL01106|6|113193863|T->S|0.03|Benign|MGI:3057108|Lhfpl4|lipoma HMGIC fusion partner-like protein 4 [Source:MGI Symbol;Acc:MGI:3057108]|Heterozygous||T|A|17|37.0|Non-synonymous|Line Propagating
5210656|IGL01107|17|19521356|Y->C|1.0|Probably damaging|MGI:3648026|Vmn2r100|vomeronasal 2, receptor 100 [Source:MGI Symbol;Acc:MGI:3648026]|Heterozygous||A|G|150|38.0|Non-synonymous|Alive, Line Propagating
5210657|IGL01107|15|101475425|L->Q|1.0|Probably damaging|MGI:109362|Krt86|keratin 86 [Source:MGI Symbol;Acc:MGI:109362]|Heterozygous||T|A|132|39.0|Non-synonymous|Alive, Line Propagating
5210658|IGL01107|15|10599711|Disrupted splicing|||MGI:1922896|Rai14|retinoic acid induced 14 [Source:MGI Symbol;Acc:MGI:1922896]|Heterozygous||C|T|78|38.0|Splice|Alive, Line Propagating
5210659|IGL01107|2|153002889|Disrupted splicing|||MGI:1913589|Ttll9|tubulin tyrosine ligase-like family, member 9 [Source:MGI Symbol;Acc:MGI:1913589]|Heterozygous||C|A|71|36.0|Splice|Alive, Line Propagating
5210660|IGL01107|5|140717177|S->L|1.0|Probably damaging|MGI:1891679|Baat1|BRCA1-associated ATM activator 1 [Source:MGI Symbol;Acc:MGI:1891679]|Heterozygous||C|T|71|35.0|Non-synonymous|Alive, Line Propagating
5210661|IGL01107|19|18957328|L->Stop||N/A|MGI:1343464|Rorb|RAR-related orphan receptor beta [Source:MGI Symbol;Acc:MGI:1343464]|Heterozygous|Mice homozygous for disruptions in this gene have impaired vision and a variety of behavioral abnormalities.|A|T|70|38.0|Non-synonymous|Alive, Line Propagating
5210662|IGL01107|1|36829581|S->G|1.0|Probably damaging|MGI:1927110|Tmem131|transmembrane protein 131 [Source:MGI Symbol;Acc:MGI:1927110]|Heterozygous||T|C|67|39.0|Non-synonymous|Alive, Line Propagating
5210663|IGL01107|8|72731105|C->R||Benign|MGI:107158|Sin3b|transcriptional regulator, SIN3B (yeast) [Source:MGI Symbol;Acc:MGI:107158]|Heterozygous|Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation.|T|C|61|37.0|Non-synonymous|Alive, Line Propagating
5210664|IGL01107|6|131687111|V->A|0.01|Benign|MGI:2681195|Tas2r105|taste receptor, type 2, member 105 [Source:MGI Symbol;Acc:MGI:2681195]|Heterozygous||A|G|59|37.0|Non-synonymous|Alive, Line Propagating
5210665|IGL01107|3|59331524|E->G|0.94|Possibly damaging|MGI:1923481|Igsf10|immunoglobulin superfamily, member 10 [Source:MGI Symbol;Acc:MGI:1923481]|Heterozygous||T|C|54|37.5|Non-synonymous|Alive, Line Propagating
5210666|IGL01107|1|74919183|Disrupted splicing|||MGI:2444274|Ccdc108|coiled-coil domain containing 108 [Source:MGI Symbol;Acc:MGI:2444274]|Heterozygous||C|T|47|34.0|Splice|Alive, Line Propagating
5210667|IGL01107|7|17204925|L->F|0.09|Benign|MGI:1891361|Psg29|pregnancy-specific glycoprotein 29 [Source:MGI Symbol;Acc:MGI:1891361]|Heterozygous||G|T|47|40.0|Non-synonymous|Alive, Line Propagating
5210668|IGL01107|6|78383245|D->G|0.48|Possibly damaging|MGI:109408|Reg3a|regenerating islet-derived 3 alpha [Source:MGI Symbol;Acc:MGI:109408]|Heterozygous||A|G|46|38.5|Non-synonymous|Alive, Line Propagating
5210669|IGL01107|4|154280244|N->S||Benign|MGI:2446219|Arhgef16|Rho guanine nucleotide exchange factor (GEF) 16 [Source:MGI Symbol;Acc:MGI:2446219]|Heterozygous||T|C|43|36.0|Non-synonymous|Alive, Line Propagating
5210670|IGL01107|13|73494828|F->I|0.88|Possibly damaging|MGI:2384812|Lpcat1|lysophosphatidylcholine acyltransferase 1 [Source:MGI Symbol;Acc:MGI:2384812]|Heterozygous|Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function.|T|A|42|36.5|Non-synonymous|Alive, Line Propagating
5210671|IGL01107|4|144393094|I->N||Benign|MGI:1924882|Pramef12|PRAME family member 12 [Source:MGI Symbol;Acc:MGI:1924882]|Heterozygous||A|T|38|37.0|Non-synonymous|Alive, Line Propagating
5210672|IGL01107|4|137938658|L->Q|1.0|Probably damaging|MGI:1101357|Ece1|endothelin converting enzyme 1 [Source:MGI Symbol;Acc:MGI:1101357]|Heterozygous|Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality.|T|A|33|37.0|Non-synonymous|Alive, Line Propagating
5210673|IGL01107|7|125575914|L->F|0.02|Benign|MGI:105367|Il4ra|interleukin 4 receptor, alpha [Source:MGI Symbol;Acc:MGI:105367]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and altered susceptibility to infection.|G|T|33|38.0|Non-synonymous|Alive, Line Propagating
5210674|IGL01107|7|45093328|D->G|1.0|Probably damaging|MGI:103017|Fcgrt|Fc receptor, IgG, alpha chain transporter [Source:MGI Symbol;Acc:MGI:103017]|Heterozygous|Homozygous mutation of this gene results in defective perinatal transport of maternal IgG, increased clearance of IgG, and diminished IgG antibody response after immunization.|T|C|30|35.0|Non-synonymous|Alive, Line Propagating
5210675|IGL01107|7|46209901|L->P|1.0|Probably damaging|MGI:1919338|Ush1c|Usher syndrome 1C [Source:MGI Symbol;Acc:MGI:1919338]|Heterozygous|Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.|A|G|30|32.0|Non-synonymous|Alive, Line Propagating
5210676|IGL01107|16|56006007|Y->H|||MGI:1915443|Rpl24|ribosomal protein L24 [Source:MGI Symbol;Acc:MGI:1915443]|Heterozygous|Heterozygous mutants have short kinked tail, ventral spotting, malocclusion, white feet, and anomalies of the spine and eyes; homozygotes die in utero.|T|C|29|37.0|Non-synonymous|Alive, Line Propagating
5210677|IGL01107|19|6989501|R->H|0.01|Benign|MGI:1927346|Dnajc4|DnaJ (Hsp40) homolog, subfamily C, member 4 [Source:MGI Symbol;Acc:MGI:1927346]|Heterozygous||C|T|29|37.0|Non-synonymous|Alive, Line Propagating
5210678|IGL01107|8|105304177|Disrupted splicing|||MGI:103012|E2f4|E2F transcription factor 4 [Source:MGI Symbol;Acc:MGI:103012]|Heterozygous|Homozygous null mice die postnatally of an increased susceptibility to bacterial infection and exhibit craniofacial defects, erythroid abnormalities, and growth retardation.|T|A|28|35.5|Splice|Alive, Line Propagating
5210679|IGL01107|14|57865589|E->V|0.42|Benign|MGI:1923215|Zdhhc20|zinc finger, DHHC domain containing 20 [Source:MGI Symbol;Acc:MGI:1923215]|Heterozygous||T|A|26|37.0|Non-synonymous|Alive, Line Propagating
5210680|IGL01107|7|109711838|T->M|1.0|Probably damaging|MGI:3041226|Akip1|A kinase (PRKA) interacting protein 1 [Source:MGI Symbol;Acc:MGI:3041226]|Heterozygous||C|T|25|37.0|Non-synonymous|Alive, Line Propagating
5210681|IGL01107|2|30797936|F->Y|0.09|Benign|MGI:1923631|1700001o22rik|RIKEN cDNA 1700001O22 gene [Source:MGI Symbol;Acc:MGI:1923631]|Heterozygous||A|T|21|35.0|Non-synonymous|Alive, Line Propagating
5210682|IGL01107|8|36099931|T->A|0.02|Benign|MGI:1196223|D8ertd82e|DNA segment, Chr 8, ERATO Doi 82, expressed [Source:MGI Symbol;Acc:MGI:1196223]|Heterozygous||A|G|20|38.0|Non-synonymous|Alive, Line Propagating
5210683|IGL01107|2|52111303|T->A||Benign|MGI:1098622|Rif1|Rap1 interacting factor 1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1098622]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation.|A|G|19|39.0|Non-synonymous|Alive, Line Propagating
5210684|IGL01107|9|110221937|H->N|1.0|Probably damaging|MGI:1203524|Smarcc1|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 [Source:MGI Symbol;Acc:MGI:1203524]|Heterozygous|Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation.|C|A|18|38.5|Non-synonymous|Alive, Line Propagating
5210685|IGL01107|17|27786069|Disrupted splicing|||MGI:106281|D17wsu92e|DNA segment, Chr 17, Wayne State University 92, expressed [Source:MGI Symbol;Acc:MGI:106281]|Heterozygous||A|T|16|37.5|Splice|Alive, Line Propagating
5210686|IGL01107|6|85952370|Disrupted splicing|||MGI:1919352|Dusp11|dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) [Source:MGI Symbol;Acc:MGI:1919352]|Heterozygous||A|G|16|38.0|Splice|Alive, Line Propagating
5210687|IGL01107|12|71194468|Disrupted splicing|||MGI:1924217|2700049a03rik|RIKEN cDNA 2700049A03 gene [Source:MGI Symbol;Acc:MGI:1924217]|Heterozygous||T|C|14|37.5|Splice|Alive, Line Propagating
5211278|IGL01108|10|62296708|K->R|0.04|Benign|MGI:96103|Hk1|hexokinase 1 [Source:MGI Symbol;Acc:MGI:96103]|Heterozygous|Homozygous mutant mice exhibit hemolytic anemia with extensive tissue iron deposition and reticulocytosis and female infertility.|T|C|292|35.0|Non-synonymous|Alive, Line Propagating
5211279|IGL01108|7|41427584|R->K|||MGI:3703084|Vmn2r57|vomeronasal 2, receptor 57 [Source:MGI Symbol;Acc:MGI:3703084]|Heterozygous||C|T|226|39.0|Non-synonymous|Alive, Line Propagating
5211280|IGL01108|4|52825727|T->I|1.0|Probably damaging|MGI:3030109|Olfr275|olfactory receptor 275 [Source:MGI Symbol;Acc:MGI:3030109]|Heterozygous||C|T|105|39.0|Non-synonymous|Alive, Line Propagating
5211281|IGL01108|11|59256309|N->D||Benign|MGI:98956|Wnt3a|wingless-related MMTV integration site 3A [Source:MGI Symbol;Acc:MGI:98956]|Heterozygous|Homozygous null mutants die at embryonic day 10.5-12.5 with failed development of caudal somites, notochord and structures rostral to hindlimbs. Homozygotes for a hypomorphic allele have vertebral defects and a short tail due to loss of caudal vertebrae.|T|C|104|35.0|Non-synonymous|Alive, Line Propagating
5211282|IGL01108|9|110428686|M->K|0.99|Probably damaging|MGI:2143315|Klhl18|kelch-like 18 (Drosophila) [Source:MGI Symbol;Acc:MGI:2143315]|Heterozygous||A|T|101|34.0|Non-synonymous|Alive, Line Propagating
5211283|IGL01108|7|72185815|T->A|0.77|Possibly damaging|MGI:2685335|Mctp2|multiple C2 domains, transmembrane 2 [Source:MGI Symbol;Acc:MGI:2685335]|Heterozygous||T|C|83|37.0|Non-synonymous|Alive, Line Propagating
5211284|IGL01108|16|52047451|Disrupted splicing|||MGI:2146430|Cblb|Casitas B-lineage lymphoma b [Source:MGI Symbol;Acc:MGI:2146430]|Heterozygous|Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis.|T|A|76|37.0|Splice|Alive, Line Propagating
5211285|IGL01108|9|7176771|S->P|0.88|Possibly damaging|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|A|G|69|34.0|Non-synonymous|Alive, Line Propagating
5211286|IGL01108|7|46812498|A->T|||MGI:1277216|Gtf2h1|general transcription factor II H, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1277216]|Heterozygous||G|A|67|39.0|Non-synonymous|Alive, Line Propagating
5211287|IGL01108|18|32264585|V->A|1.0|Probably damaging|MGI:95414|Ercc3|excision repair cross-complementing rodent repair deficiency, complementation group 3 [Source:MGI Symbol;Acc:MGI:95414]|Heterozygous|Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation.|T|C|64|36.0|Non-synonymous|Alive, Line Propagating
5211288|IGL01108|11|115897181|N->K|0.23|Benign|MGI:2156841|Recql5|RecQ protein-like 5 [Source:MGI Symbol;Acc:MGI:2156841]|Heterozygous|Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers.|A|T|58|35.0|Non-synonymous|Alive, Line Propagating
5211289|IGL01108|2|181597214|Y->H|1.0|Probably damaging|MGI:2443872|Samd10|sterile alpha motif domain containing 10 [Source:MGI Symbol;Acc:MGI:2443872]|Heterozygous||A|G|53|32.0|Non-synonymous|Alive, Line Propagating
5211290|IGL01108|14|64095984|K->I|1.0|Probably damaging|MGI:1921465|Prss51|protease, serine, 51 [Source:MGI Symbol;Acc:MGI:1921465]|Heterozygous||A|T|52|34.0|Non-synonymous|Alive, Line Propagating
5211291|IGL01108|13|77125475|Disrupted splicing|||MGI:2145448|Ankrd32|ankyrin repeat domain 32 [Source:MGI Symbol;Acc:MGI:2145448]|Heterozygous|Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes do not show any major cell cycle defects.|A|T|45|39.0|Splice|Alive, Line Propagating
5211292|IGL01108|14|56607440|I->S||Benign|MGI:2685589|Parp4|poly (ADP-ribose) polymerase family, member 4 [Source:MGI Symbol;Acc:MGI:2685589]|Heterozygous||T|G|45|37.0|Non-synonymous|Alive, Line Propagating
5211293|IGL01108|16|4916155|Disrupted splicing|||MGI:2447670|Mgrn1|mahogunin, ring finger 1 [Source:MGI Symbol;Acc:MGI:2447670]|Heterozygous|Homozygotes for mutant alleles exhibit darkening of agouti hair and suppression of the obesity associated with certain agouti mutations. Homozygotes for an induced null mutation also have curly whiskers and develop a progressive spongiform neuropathology.|G|T|43|38.0|Splice|Alive, Line Propagating
5211294|IGL01108|16|90792814|A->T|1.0|Probably damaging|MGI:2146468|Urb1|URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]|Heterozygous||C|T|43|36.0|Non-synonymous|Alive, Line Propagating
5211295|IGL01108|1|188862825|R->L|0.01|Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|G|T|41|37.0|Non-synonymous|Alive, Line Propagating
5211296|IGL01108|8|85065977|Disrupted splicing|||MGI:1915878|Fbxw9|F-box and WD-40 domain protein 9 [Source:MGI Symbol;Acc:MGI:1915878]|Heterozygous||A|G|40|33.5|Splice|Alive, Line Propagating
5211297|IGL01108|6|91493005|R->W|1.0|Probably damaging|MGI:103557|Xpc|xeroderma pigmentosum, complementation group C [Source:MGI Symbol;Acc:MGI:103557]|Heterozygous|Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair.|G|A|39|38.0|Non-synonymous|Alive, Line Propagating
5211298|IGL01108|1|87386937|I->V||Benign|MGI:2138584, MGI:3781032|Gigyf2,kcnj13|GRB10 interacting GYF protein 2 [Source:MGI Symbol;Acc:MGI:2138584],potassium inwardly-rectifying channel, subfamily J, member 13 [Source:MGI Symbol;Acc:MGI:3781032]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.,NO_PHENOTYPE|T|C|38|38.0|Non-synonymous|Alive, Line Propagating
5211299|IGL01108|12|84173691|E->G|1.0|Probably damaging|MGI:2685106|C130039o16rik|RIKEN cDNA C130039O16 gene [Source:MGI Symbol;Acc:MGI:2685106]|Heterozygous||T|C|35|34.0|Non-synonymous|Alive, Line Propagating
5211300|IGL01108|14|80021899|V->A|0.01|Benign|MGI:2685142|Olfm4|olfactomedin 4 [Source:MGI Symbol;Acc:MGI:2685142]|Heterozygous||T|C|34|39.0|Non-synonymous|Alive, Line Propagating
5211301|IGL01108|X|139083137|V->I|1.0|Probably damaging|MGI:3041197|Serpina7|serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 [Source:MGI Symbol;Acc:MGI:3041197]|Heterozygous||C|T|30|39.5|Non-synonymous|Alive, Line Propagating
5211302|IGL01108|12|54916731|I->T|||MGI:1309478|Baz1a|bromodomain adjacent to zinc finger domain 1A [Source:MGI Symbol;Acc:MGI:1309478]|Heterozygous||A|G|26|37.0|Non-synonymous|Alive, Line Propagating
5211303|IGL01108|9|62757621|E->G|||MGI:2442114|Itga11|integrin alpha 11 [Source:MGI Symbol;Acc:MGI:2442114]|Heterozygous|Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.|A|G|26|37.5|Non-synonymous|Alive, Line Propagating
5211304|IGL01108|6|40897344|C->R|1.0|Probably damaging|MGI:3608323|Prss58|protease, serine 58 [Source:MGI Symbol;Acc:MGI:3608323]|Heterozygous||A|G|22|37.5|Non-synonymous|Alive, Line Propagating
5211305|IGL01108|11|65849980|T->S|0.5|Possibly damaging|MGI:1289279|Dnahc9|dynein, axonemal, heavy chain 9 [Source:MGI Symbol;Acc:MGI:1289279]|Heterozygous||T|A|21|35.0|Non-synonymous|Alive, Line Propagating
5211306|IGL01108|19|32008681|Disrupted splicing|||MGI:1859310|Asah2|N-acylsphingosine amidohydrolase 2 [Source:MGI Symbol;Acc:MGI:1859310]|Heterozygous|Mice homozygous for a targeted null mutation are defective in the intestinal digestion of dietary ceramide but exhibit a normal life span with no obvious abnormalities or significant alterations in total ceramide levels in major organ tissues.|A|G|20|40.0|Splice|Alive, Line Propagating
5211307|IGL01108|7|121914332|Disrupted splicing|||MGI:104696|Scnn1b|sodium channel, nonvoltage-gated 1 beta [Source:MGI Symbol;Acc:MGI:104696]|Heterozygous|Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype.|G|T|20|36.0|Splice|Alive, Line Propagating
5211308|IGL01108|2|70678578|S->R|0.99|Probably damaging|MGI:2135962|Gorasp2|golgi reassembly stacking protein 2 [Source:MGI Symbol;Acc:MGI:2135962]|Heterozygous||T|A|19|38.0|Non-synonymous|Alive, Line Propagating
5211309|IGL01108|15|33497287|Q->R||Benign|MGI:1889205|Pgcp|plasma glutamate carboxypeptidase [Source:MGI Symbol;Acc:MGI:1889205]|Heterozygous||A|G|18|34.0|Non-synonymous|Alive, Line Propagating
5211311|IGL01108|10|79867521|D->V|1.0|Probably damaging|MGI:2388640|Bc005764|cDNA sequence BC005764 [Source:MGI Symbol;Acc:MGI:2388640]|Heterozygous||T|A|12|33.5|Non-synonymous|Alive, Line Propagating
5211894|IGL01109|2|88729065|D->G|1.0|Probably damaging|MGI:3031031|Olfr1197|olfactory receptor 1197 [Source:MGI Symbol;Acc:MGI:3031031]|Heterozygous||T|C|180|37.0|Non-synonymous|Line Propagating
5211895|IGL01109|15|92339577|Y->Stop||N/A|MGI:105980|Cntn1|contactin 1 [Source:MGI Symbol;Acc:MGI:105980]|Heterozygous|Homozygous mutation of this gene results in progressive ataxia and death by 18 days of age. Mutant animals exhibit growth retardation and a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cell axon morphology.|C|A|150|38.0|Non-synonymous|Line Propagating
5211896|IGL01109|4|111448641|L->P|0.82|Possibly damaging|MGI:1918244, MGI:1914871|Bend5,agbl4|BEN domain containing 5 [Source:MGI Symbol;Acc:MGI:1914871],ATP/GTP binding protein-like 4 [Source:MGI Symbol;Acc:MGI:1918244]|Heterozygous||T|C|127|38.0|Non-synonymous|Line Propagating
5211897|IGL01109|9|39771997|M->V|0.67|Possibly damaging|MGI:3030802|Olfr968|olfactory receptor 968 [Source:MGI Symbol;Acc:MGI:3030802]|Heterozygous||T|C|127|38.0|Non-synonymous|Line Propagating
5211898|IGL01109|2|88124679|Q->R|1.0|Probably damaging|MGI:3031000|Olfr1166|olfactory receptor 1166 [Source:MGI Symbol;Acc:MGI:3031000]|Heterozygous||T|C|96|38.0|Non-synonymous|Line Propagating
5211899|IGL01109|2|86538330|D->V||Benign|MGI:3030913|Olfr1079|olfactory receptor 1079 [Source:MGI Symbol;Acc:MGI:3030913]|Heterozygous||T|A|89|39.0|Non-synonymous|Line Propagating
5211900|IGL01109|11|73008215|V->A|0.79|Possibly damaging|MGI:1098235|P2rx1|purinergic receptor P2X, ligand-gated ion channel, 1 [Source:MGI Symbol;Acc:MGI:1098235]|Heterozygous|Homozygotes for a targeted null mutation exhibit low male fertility due to impaired vas deferens contraction and reduced numbers of ejaculated sperm. Mutants also show mild hypertension and reduced susceptibility to experimental thromboembolism.|T|C|80|35.0|Non-synonymous|Line Propagating
5211901|IGL01109|2|111292519|D->N|1.0|Probably damaging|MGI:3031112|Olfr1278|olfactory receptor 1278 [Source:MGI Symbol;Acc:MGI:3031112]|Heterozygous||G|A|79|39.0|Non-synonymous|Line Propagating
5211902|IGL01109|19|13364699|I->V|||MGI:3031301|Olfr1467|olfactory receptor 1467 [Source:MGI Symbol;Acc:MGI:3031301]|Heterozygous||A|G|78|37.0|Non-synonymous|Line Propagating
5211903|IGL01109|5|87008306|T->I|0.62|Possibly damaging|MGI:3576100|Ugt2b35|UDP glucuronosyltransferase 2 family, polypeptide B35 [Source:MGI Symbol;Acc:MGI:3576100]|Heterozygous||C|T|75|39.0|Non-synonymous|Line Propagating
5211904|IGL01109|19|39462885|Disrupted splicing|||MGI:1306819|Cyp2c38|cytochrome P450, family 2, subfamily c, polypeptide 38 [Source:MGI Symbol;Acc:MGI:1306819]|Heterozygous||A|G|74|39.0|Splice|Line Propagating
5211905|IGL01109|4|60006001|N->K|1.0|Probably damaging|MGI:3650962|Mup6|major urinary protein 6 [Source:MGI Symbol;Acc:MGI:3650962]|Heterozygous||T|A|72|38.0|Non-synonymous|Line Propagating
5211906|IGL01109|15|91738832|N->K|1.0|Probably damaging|MGI:1913975|Lrrk2|leucine-rich repeat kinase 2 [Source:MGI Symbol;Acc:MGI:1913975]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.|T|A|63|37.0|Non-synonymous|Line Propagating
5211907|IGL01109|7|4937112|L->Stop||N/A|MGI:3606211|Ssc5d|scavenger receptor cysteine rich domain containing (5 domains) [Source:MGI Symbol;Acc:MGI:3606211]|Heterozygous||T|A|61|37.0|Non-synonymous|Line Propagating
5211908|IGL01109|10|88906392|S->T|0.99|Probably damaging|MGI:2384916|Slc5a8|solute carrier family 5 (iodide transporter), member 8 [Source:MGI Symbol;Acc:MGI:2384916]|Heterozygous|Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine.|T|A|48|37.0|Non-synonymous|Line Propagating
5211909|IGL01109|8|13764606|V->A||Benign|MGI:1917207|Cdc16|CDC16 cell division cycle 16 [Source:MGI Symbol;Acc:MGI:1917207]|Heterozygous||T|C|46|38.0|Non-synonymous|Line Propagating
5211910|IGL01109|X|120400914|V->I|0.52|Possibly damaging|MGI:2442849|Pcdh11x|protocadherin 11 X-linked [Source:MGI Symbol;Acc:MGI:2442849]|Heterozygous||G|A|42|38.0|Non-synonymous|Line Propagating
5211911|IGL01109|19|56436745|D->E||Benign|MGI:109383|Casp7|caspase 7 [Source:MGI Symbol;Acc:MGI:109383]|Heterozygous|Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development.|T|A|41|37.0|Non-synonymous|Line Propagating
5211912|IGL01109|4|132693000|Y->Stop||N/A|MGI:109339|Eya3|eyes absent 3 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:109339]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior.|C|A|41|37.0|Non-synonymous|Line Propagating
5211913|IGL01109|11|29188288|V->E|0.19|Benign|MGI:2144474|Smek2|SMEK homolog 2, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:2144474]|Heterozygous||T|A|40|38.5|Non-synonymous|Line Propagating
5211914|IGL01109|1|151411139|S->P|0.99|Probably damaging|MGI:1914125|Swt1|SWT1 RNA endoribonuclease homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914125]|Heterozygous||A|G|38|37.5|Non-synonymous|Line Propagating
5211915|IGL01109|11|69393784|D->Y|0.71|Possibly damaging|MGI:2685586|Cyb5d1|cytochrome b5 domain containing 1 [Source:MGI Symbol;Acc:MGI:2685586]|Heterozygous||C|A|36|38.0|Non-synonymous|Line Propagating
5211916|IGL01109|19|17123879|D->G|0.93|Possibly damaging|MGI:1925004|Prune2|prune homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925004]|Heterozygous||A|G|36|37.0|Non-synonymous|Line Propagating
5211917|IGL01109|14|47714721|N->I|||MGI:109153|Ktn1|kinectin 1 [Source:MGI Symbol;Acc:MGI:109153]|Heterozygous|Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.|A|T|35|38.0|Non-synonymous|Line Propagating
5211918|IGL01109|11|6348790|V->A|1.0|Probably damaging|MGI:1098267|Ogdh|oxoglutarate dehydrogenase (lipoamide) [Source:MGI Symbol;Acc:MGI:1098267]|Heterozygous||T|C|32|35.0|Non-synonymous|Line Propagating
5211919|IGL01109|4|106663163|Y->C|0.87|Possibly damaging|MGI:1919604|Ttc4|tetratricopeptide repeat domain 4 [Source:MGI Symbol;Acc:MGI:1919604]|Heterozygous||T|C|32|36.0|Non-synonymous|Line Propagating
5211920|IGL01109|7|12969435|T->A|0.01|Benign|MGI:2444641|Zfp324|zinc finger protein 324 [Source:MGI Symbol;Acc:MGI:2444641]|Heterozygous||A|G|32|36.5|Non-synonymous|Line Propagating
5211921|IGL01109|10|62879774|M->L|0.61|Possibly damaging|MGI:1098693|Tet1|tet methylcytosine dioxygenase 1 [Source:MGI Symbol;Acc:MGI:1098693]|Heterozygous||T|A|31|35.0|Non-synonymous|Line Propagating
5211922|IGL01109|9|72488067|N->I|1.0|Probably damaging|MGI:1201610|Tex9|testis expressed gene 9 [Source:MGI Symbol;Acc:MGI:1201610]|Heterozygous||T|A|31|39.0|Non-synonymous|Line Propagating
5211923|IGL01109|11|59133762|D->G|||MGI:2681862|Obscn|obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]|Heterozygous||T|C|28|37.0|Non-synonymous|Line Propagating
5211924|IGL01109|18|65307140|D->G|||MGI:2449492|Alpk2|alpha-kinase 2 [Source:MGI Symbol;Acc:MGI:2449492]|Heterozygous||T|C|28|39.0|Non-synonymous|Line Propagating
5211925|IGL01109|13|41316234|H->L||Benign|MGI:97302|Nedd9|neural precursor cell expressed, developmentally down-regulated gene 9 [Source:MGI Symbol;Acc:MGI:97302]|Heterozygous||T|A|27|34.0|Non-synonymous|Line Propagating
5211926|IGL01109|19|6298147|M->K|1.0|Probably damaging|MGI:1341878|Ehd1|EH-domain containing 1 [Source:MGI Symbol;Acc:MGI:1341878]|Heterozygous|Mice homozygous for a knock-out allele show perinatal and postnatal lethality, decreased body weight, and male infertility due to defective spermatogenesis; female homozygotes may display malocclusion and variable ocular defects, including congenital central cataracts.|T|A|27|37.0|Non-synonymous|Line Propagating
5211927|IGL01109|16|48929674|M->V||Benign|MGI:1917433|Dzip3|DAZ interacting protein 3, zinc finger [Source:MGI Symbol;Acc:MGI:1917433]|Heterozygous||T|C|26|40.0|Non-synonymous|Line Propagating
5211928|IGL01109|5|52848628|T->A|0.95|Possibly damaging|MGI:1098673|Anapc4|anaphase promoting complex subunit 4 [Source:MGI Symbol;Acc:MGI:1098673]|Heterozygous||A|G|26|39.0|Non-synonymous|Line Propagating
5211929|IGL01109|9|53490293|I->M|0.99|Probably damaging|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|T|C|26|40.0|Non-synonymous|Line Propagating
5211930|IGL01109|6|103715393|Y->D|1.0|Probably damaging|MGI:1098266|Chl1|cell adhesion molecule with homology to L1CAM [Source:MGI Symbol;Acc:MGI:1098266]|Heterozygous|Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior.|T|G|25|38.0|Non-synonymous|Line Propagating
5211931|IGL01109|15|9367268|F->V|0.93|Possibly damaging|MGI:2145969|Ugt3a2|UDP glycosyltransferases 3 family, polypeptide A2 [Source:MGI Symbol;Acc:MGI:2145969]|Heterozygous||T|G|21|39.0|Non-synonymous|Line Propagating
5211932|IGL01109|4|41195155|N->S|1.0|Probably damaging|MGI:1916176|Ubap2|ubiquitin-associated protein 2 [Source:MGI Symbol;Acc:MGI:1916176]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
5211933|IGL01109|2|76549527|T->A|||MGI:2139014|Osbpl6|oxysterol binding protein-like 6 [Source:MGI Symbol;Acc:MGI:2139014]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
5211934|IGL01109|16|91806201|Disrupted splicing|||MGI:1338069|Itsn1|intersectin 1 (SH3 domain protein 1A) [Source:MGI Symbol;Acc:MGI:1338069]|Heterozygous|Homozygous for a gene trapped allele exhibit embryonic lethal. Mice homozygous for a null allele exhibit some postnatal lethality and impaired vesicle recycling in surviving mice.|C|T|13|38.0|Splice|Line Propagating
5212535|IGL01110|2|139977618|S->P|0.99|Probably damaging|MGI:1923062|Tasp1|taspase, threonine aspartase 1 [Source:MGI Symbol;Acc:MGI:1923062]|Heterozygous|Mice homozygous for a knock-out allele display prenatal and early postnatal lethality, reduced body size, impaired suckling behavior, homeotic transformations of the axial skeleton, and cell cycle defects.|A|G|128|38.0|Non-synonymous|Line Propagating
5212536|IGL01110|9|39737397|V->A|0.09|Benign|MGI:2659178|Olfr150|olfactory receptor 150 [Source:MGI Symbol;Acc:MGI:2659178]|Heterozygous||T|C|122|38.0|Non-synonymous|Line Propagating
5212537|IGL01110|1|14283130|S->P|1.0|Probably damaging|MGI:109344|Eya1|eyes absent 1 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:109344]|Heterozygous|Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.|A|G|98|39.0|Non-synonymous|Line Propagating
5212538|IGL01110|9|67250582|C->Stop||N/A|MGI:1917799|Tln2|talin 2 [Source:MGI Symbol;Acc:MGI:1917799]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.|G|T|92|36.0|Non-synonymous|Line Propagating
5212539|IGL01110|11|75165519|L->Q|0.98|Probably damaging|MGI:1338010|Hic1|hypermethylated in cancer 1 [Source:MGI Symbol;Acc:MGI:1338010]|Heterozygous|Homozygotes for a targeted null mutation exhibit varying abnormalities, such as acrania, exencephaly, cleft palate, limb defects, and omphalocele, and die perinatally. Heterozygotes develop tumors, including lymphomas, sarcomas, and epithelial cancers.|A|T|70|35.0|Non-synonymous|Line Propagating
5212540|IGL01110|4|98413024|N->T|0.99|Probably damaging|MGI:1277960|Inadl|InaD-like (Drosophila) [Source:MGI Symbol;Acc:MGI:1277960]|Heterozygous||A|C|66|39.0|Non-synonymous|Line Propagating
5212541|IGL01110|11|57289381|E->G|1.0|Probably damaging|MGI:95808|Gria1|glutamate receptor, ionotropic, AMPA1 (alpha 1) [Source:MGI Symbol;Acc:MGI:95808]|Heterozygous|Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.|A|G|58|37.0|Non-synonymous|Line Propagating
5212542|IGL01110|10|41498410|V->I||Benign|MGI:1920325|Ppil6|peptidylprolyl isomerase (cyclophilin)-like 6 [Source:MGI Symbol;Acc:MGI:1920325]|Heterozygous||G|A|55|38.0|Non-synonymous|Line Propagating
5212543|IGL01110|X|143807250|P->H|1.0|Probably damaging|MGI:1100850|Capn6|calpain 6 [Source:MGI Symbol;Acc:MGI:1100850]|Heterozygous||G|T|53|38.0|Non-synonymous|Line Propagating
5212544|IGL01110|9|7384921|D->N|||MGI:1933847|Mmp1b|matrix metallopeptidase 1b (interstitial collagenase) [Source:MGI Symbol;Acc:MGI:1933847]|Heterozygous||C|T|51|37.0|Non-synonymous|Line Propagating
5212545|IGL01110|15|89021257|V->L|||MGI:1891384|Mov10l1|Moloney leukemia virus 10-like 1 [Source:MGI Symbol;Acc:MGI:1891384]|Heterozygous|Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells.|G|T|42|37.0|Non-synonymous|Line Propagating
5212546|IGL01110|11|68528826|Disrupted splicing|||MGI:2144613|Pik3r6|phosphoinositide-3-kinase, regulatory subunit 6 [Source:MGI Symbol;Acc:MGI:2144613]|Heterozygous||G|A|38|37.0|Splice|Line Propagating
5212547|IGL01110|13|113045684|V->I|0.13|Benign|MGI:1916840, MGI:3644472|Cdc20b,gpx8|glutathione peroxidase 8 (putative) [Source:MGI Symbol;Acc:MGI:1916840],cell division cycle 20B [Source:MGI Symbol;Acc:MGI:3644472]|Heterozygous||C|T|38|34.5|Non-synonymous|Line Propagating
5212548|IGL01110|14|57549790|F->V|1.0|Probably damaging|MGI:1915293|N6amt2|N-6 adenine-specific DNA methyltransferase 2 (putative) [Source:MGI Symbol;Acc:MGI:1915293]|Heterozygous||A|C|36|38.0|Non-synonymous|Line Propagating
5212549|IGL01110|15|16855926|D->G|||MGI:107433|Cdh9|cadherin 9 [Source:MGI Symbol;Acc:MGI:107433]|Heterozygous||A|G|36|39.0|Non-synonymous|Line Propagating
5212550|IGL01110|15|75975195|C->S|1.0|Probably damaging|MGI:1916270|Zfp707|zinc finger protein 707 [Source:MGI Symbol;Acc:MGI:1916270]|Heterozygous||T|A|35|35.0|Non-synonymous|Line Propagating
5212551|IGL01110|19|4006577|E->G|0.84|Possibly damaging|MGI:1926250|Doc2g|double C2, gamma [Source:MGI Symbol;Acc:MGI:1926250]|Heterozygous||A|G|34|36.0|Non-synonymous|Line Propagating
5212552|IGL01110|14|47394326|Disrupted splicing|||MGI:2183453|Dlgap5|discs, large (Drosophila) homolog-associated protein 5 [Source:MGI Symbol;Acc:MGI:2183453]|Heterozygous|Mice homozygous for a null mutation display female infertility resulting from a defect in decidualization.|A|G|32|38.0|Splice|Line Propagating
5212553|IGL01110|2|86958921|C->Y|1.0|Probably damaging|MGI:3030933|Olfr1099|olfactory receptor 1099 [Source:MGI Symbol;Acc:MGI:3030933]|Heterozygous||C|T|30|39.0|Non-synonymous|Line Propagating
5212554|IGL01110|5|30461725|F->S|1.0|Probably damaging|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|G|27|36.0|Non-synonymous|Line Propagating
5212555|IGL01110|19|4892925|S->L|0.87|Possibly damaging|MGI:1277215|Bbs1|Bardet-Biedl syndrome 1 (human) [Source:MGI Symbol;Acc:MGI:1277215]|Heterozygous|Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.|G|A|26|31.0|Non-synonymous|Line Propagating
5212556|IGL01110|2|27215113|Q->L|0.1|Benign|MGI:2183102|Sardh|sarcosine dehydrogenase [Source:MGI Symbol;Acc:MGI:2183102]|Heterozygous||T|A|24|39.0|Non-synonymous|Line Propagating
5212557|IGL01110|6|47963412|E->G|0.65|Possibly damaging|MGI:2141515|Zfp956|zinc finger protein 956 [Source:MGI Symbol;Acc:MGI:2141515]|Heterozygous||A|G|17|39.0|Non-synonymous|Line Propagating
5212558|IGL01110|11|100970474|Disrupted splicing|||MGI:1277968|Ptrf|polymerase I and transcript release factor [Source:MGI Symbol;Acc:MGI:1277968]|Heterozygous|Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance.|C|A|16|35.0|Splice|Line Propagating
5213140|IGL01111|7|26936458|K->E|1.0|Probably damaging|MGI:3648316|Cyp2a22|cytochrome P450, family 2, subfamily a, polypeptide 22 [Source:MGI Symbol;Acc:MGI:3648316]|Heterozygous||T|C|109|38.0|Non-synonymous|Line Propagating
5213141|IGL01111|8|64749047|C->R|0.94|Possibly damaging|MGI:1924363|Klhl2|kelch-like 2, Mayven (Drosophila) [Source:MGI Symbol;Acc:MGI:1924363]|Heterozygous||A|G|83|38.0|Non-synonymous|Line Propagating
5213142|IGL01111|2|90733209|I->T||Benign|MGI:1926227|Nup160|nucleoporin 160 [Source:MGI Symbol;Acc:MGI:1926227]|Heterozygous||T|C|82|38.0|Non-synonymous|Line Propagating
5213143|IGL01111|7|103755373|T->S|0.01|Benign|MGI:3030464|Olfr630|olfactory receptor 630 [Source:MGI Symbol;Acc:MGI:3030464]|Heterozygous||T|A|81|36.0|Non-synonymous|Line Propagating
5213144|IGL01111|10|77542000|L->P|0.8|Possibly damaging|MGI:96611|Itgb2|integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]|Heterozygous|Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.|T|C|75|38.0|Non-synonymous|Line Propagating
5213145|IGL01111|9|121810084|Disrupted splicing|||MGI:1920144|Ccdc13|coiled-coil domain containing 13 [Source:MGI Symbol;Acc:MGI:1920144]|Heterozygous||T|C|72|37.0|Splice|Line Propagating
5213146|IGL01111|4|136657410|S->T||Benign|MGI:99611|Ephb2|Eph receptor B2 [Source:MGI Symbol;Acc:MGI:99611]|Heterozygous|Mice homozygous for a null allele exhibit abnormal axon guidance, circling, head bobbing, and hyperactivity.|A|T|64|34.0|Non-synonymous|Line Propagating
5213147|IGL01111|19|36597120|H->L|1.0|Probably damaging|MGI:2442663|Hectd2|HECT domain containing 2 [Source:MGI Symbol;Acc:MGI:2442663]|Heterozygous||A|T|60|41.0|Non-synonymous|Line Propagating
5213148|IGL01111|2|130736598|D->E|0.21|Benign|MGI:1923029|4930402h24rik|RIKEN cDNA 4930402H24 gene [Source:MGI Symbol;Acc:MGI:1923029]|Heterozygous||G|T|57|37.0|Non-synonymous|Line Propagating
5213149|IGL01111|17|86098533|A->E|||MGI:1925836|Srbd1|S1 RNA binding domain 1 [Source:MGI Symbol;Acc:MGI:1925836]|Heterozygous||G|T|56|38.0|Non-synonymous|Line Propagating
5213150|IGL01111|3|104801405|S->T|0.81|Possibly damaging|MGI:97054|Mov10|Moloney leukemia virus 10 [Source:MGI Symbol;Acc:MGI:97054]|Heterozygous||A|T|56|38.0|Non-synonymous|Line Propagating
5213151|IGL01111|10|79247997|D->E|0.99|Probably damaging|MGI:2684056|Vmn2r81|vomeronasal 2, receptor 81 [Source:MGI Symbol;Acc:MGI:2684056]|Heterozygous||T|A|48|40.0|Non-synonymous|Line Propagating
5213152|IGL01111|4|130221725|D->V||Benign|MGI:2685699|Gm853|predicted gene 853 [Source:MGI Symbol;Acc:MGI:2685699]|Heterozygous||T|A|46|36.5|Non-synonymous|Line Propagating
5213153|IGL01111|7|91449763|Y->H|0.38|Benign|MGI:1344351|Dlg2|discs, large homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1344351]|Heterozygous|Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.|T|C|46|37.0|Non-synonymous|Line Propagating
5213154|IGL01111|18|31772070|Y->Stop||N/A|MGI:2442711|Ammecr1l|AMME chromosomal region gene 1-like [Source:MGI Symbol;Acc:MGI:2442711]|Heterozygous||T|A|44|38.5|Non-synonymous|Line Propagating
5213155|IGL01111|5|71633629|Y->C|1.0|Probably damaging|MGI:95616|Gabra4|gamma-aminobutyric acid (GABA) A receptor, subunit alpha 4 [Source:MGI Symbol;Acc:MGI:95616]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|C|39|39.0|Non-synonymous|Line Propagating
5213156|IGL01111|7|42616287|K->E|1.0|Probably damaging|MGI:3036263|9830147e19rik|RIKEN cDNA 9830147E19 gene [Source:MGI Symbol;Acc:MGI:3036263]|Heterozygous||T|C|37|40.0|Non-synonymous|Line Propagating
5213157|IGL01111|18|34315136|T->I|0.01|Benign|MGI:88039|Apc|adenomatosis polyposis coli [Source:MGI Symbol;Acc:MGI:88039]|Heterozygous|Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.|C|T|36|39.0|Non-synonymous|Line Propagating
5213158|IGL01111|19|56345558|Y->N|1.0|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||A|T|33|38.0|Non-synonymous|Line Propagating
5213159|IGL01111|2|76778323|G->D|1.0|Probably damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|C|T|33|37.0|Non-synonymous|Line Propagating
5213160|IGL01111|4|101814655|N->Y|0.45|Possibly damaging|MGI:104993|Lepr|leptin receptor [Source:MGI Symbol;Acc:MGI:104993]|Heterozygous|Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting.|A|T|33|36.0|Non-synonymous|Line Propagating
5213161|IGL01111|1|54530943|K->R|0.84|Possibly damaging|MGI:2443342|Pgap1|post-GPI attachment to proteins 1 [Source:MGI Symbol;Acc:MGI:2443342]|Heterozygous|Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive.|T|C|32|39.0|Non-synonymous|Line Propagating
5213162|IGL01111|8|72175856|V->A|1.0|Probably damaging|MGI:96960|Rab8a|RAB8A, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:96960]|Heterozygous|Mice homozygous for a null allele die 3 to 4 weeks after birth and exhibit cachexia, diarrhea, intestinal swelling, shortened microvilli with inclusion bodies, and a failure to absorb nutrients.|T|C|32|37.5|Non-synonymous|Line Propagating
5213163|IGL01111|7|126129568|T->A||Benign|MGI:2429950|Xpo6|exportin 6 [Source:MGI Symbol;Acc:MGI:2429950]|Heterozygous||T|C|30|35.0|Non-synonymous|Line Propagating
5213164|IGL01111|1|52142961|Disrupted splicing|||MGI:103063|Stat1|signal transducer and activator of transcription 1 [Source:MGI Symbol;Acc:MGI:103063]|Heterozygous|Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass.|G|A|28|39.5|Splice|Line Propagating
5213165|IGL01111|10|53977013|Disrupted splicing|||MGI:104677|Man1a|mannosidase 1, alpha [Source:MGI Symbol;Acc:MGI:104677]|Heterozygous||A|T|27|37.0|Splice|Line Propagating
5213166|IGL01111|5|63807300|D->V|1.0|Probably damaging|MGI:1920464|3110047p20rik|RIKEN cDNA 3110047P20 gene [Source:MGI Symbol;Acc:MGI:1920464]|Heterozygous||A|T|27|38.0|Non-synonymous|Line Propagating
5213167|IGL01111|5|147578336|I->T|1.0|Probably damaging|MGI:95558|Flt1|FMS-like tyrosine kinase 1 [Source:MGI Symbol;Acc:MGI:95558]|Heterozygous|Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.|A|G|26|36.5|Non-synonymous|Line Propagating
5213168|IGL01111|9|53159948|K->E|0.99|Probably damaging|MGI:1924841|Ddx10|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 [Source:MGI Symbol;Acc:MGI:1924841]|Heterozygous||T|C|26|37.0|Non-synonymous|Line Propagating
5213169|IGL01111|1|75497145|V->E||Benign|MGI:2138628|Obsl1|obscurin-like 1 [Source:MGI Symbol;Acc:MGI:2138628]|Heterozygous||A|T|25|34.0|Non-synonymous|Line Propagating
5213170|IGL01111|15|81684898|V->A|0.71|Possibly damaging|MGI:2443584|L3mbtl2|l(3)mbt-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2443584]|Heterozygous||T|C|23|35.0|Non-synonymous|Line Propagating
5213171|IGL01111|6|72519829|T->A|0.08|Benign|MGI:1918380|Sh2d6|SH2 domain containing 6 [Source:MGI Symbol;Acc:MGI:1918380]|Heterozygous||T|C|21|35.0|Non-synonymous|Line Propagating
5213172|IGL01111|13|93441021|R->G|0.98|Probably damaging|MGI:1913096|Jmy|junction-mediating and regulatory protein [Source:MGI Symbol;Acc:MGI:1913096]|Heterozygous||T|C|20|35.5|Non-synonymous|Line Propagating
5213173|IGL01111|14|66834232|E->G|0.98|Probably damaging|MGI:1349763|Dpysl2|dihydropyrimidinase-like 2 [Source:MGI Symbol;Acc:MGI:1349763]|Heterozygous||T|C|20|36.5|Non-synonymous|Line Propagating
5213174|IGL01111|12|118142934|Disrupted splicing|||MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|A|T|17|39.0|Splice|Line Propagating
5213175|IGL01111|3|132694407|H->R|0.64|Possibly damaging|MGI:2445052|Tbck|TBC1 domain containing kinase [Source:MGI Symbol;Acc:MGI:2445052]|Heterozygous||A|G|17|38.0|Non-synonymous|Line Propagating
5213176|IGL01111|16|36012889|Disrupted splicing|||MGI:103560|Kpna1|karyopherin (importin) alpha 1 [Source:MGI Symbol;Acc:MGI:103560]|Heterozygous|Mice homozygous for a gene trap allele do not display any nervous system or behavioral abnormalities.|A|G|16|39.0|Splice|Line Propagating
5213177|IGL01111|4|43096927|E->G|0.46|Possibly damaging|MGI:1342278|Unc13b|unc-13 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:1342278]|Heterozygous|Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures.|A|G|16|38.0|Non-synonymous|Line Propagating
5213178|IGL01111|11|45948224|D->E|0.9|Possibly damaging|MGI:1913878|Thg1l|tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913878]|Heterozygous||A|T|15|37.0|Non-synonymous|Line Propagating
5213179|IGL01111|5|120532935|V->M|0.77|Possibly damaging|MGI:2180781|Slc24a6|solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 [Source:MGI Symbol;Acc:MGI:2180781]|Heterozygous||G|A|15|40.0|Non-synonymous|Line Propagating
5213180|IGL01111|7|44965554|H->R|0.07|Benign|MGI:2446526|Cpt1c|carnitine palmitoyltransferase 1c [Source:MGI Symbol;Acc:MGI:2446526]|Heterozygous|Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance.|T|C|12|36.5|Non-synonymous|Line Propagating
5213181|IGL01111|11|53464048|E->G|0.79|Possibly damaging|MGI:1919024|Shroom1|shroom family member 1 [Source:MGI Symbol;Acc:MGI:1919024]|Heterozygous||A|G|11|35.0|Non-synonymous|Line Propagating
5213182|IGL01111|7|133658553|Y->Stop||N/A|MGI:1919831|2700050l05rik|RIKEN cDNA 2700050L05 gene [Source:MGI Symbol;Acc:MGI:1919831]|Heterozygous||T|A|11|39.0|Non-synonymous|Line Propagating
5213183|IGL01111|16|97558719|Q->L||Benign|MGI:97244|Mx2|myxovirus (influenza virus) resistance 2 [Source:MGI Symbol;Acc:MGI:97244]|Heterozygous|Mx1+ strains do not express MX2 protein. The Mx2 gene in BALB/cJ and CBA/J is interrupted by an open reading frame mutation. Mutagenesis correcting the frameshift permits Mx2 expression in 3T3 cells. This protein did not inhibit influenza virus but conferred resistance to vesicular stomatitis virus.|A|T|10|37.0|Non-synonymous|Line Propagating
5213788|IGL01112|9|118482266|A->T|1.0|Probably damaging|MGI:1201683|Eomes|eomesodermin homolog (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:1201683]|Heterozygous|Homozygous null mice display embryonic lethality, fail to implant, and lack trophoectoderm outgrowth.|G|A|152|35.0|Non-synonymous|Line Propagating
5213789|IGL01112|15|101545523|F->S|0.98|Probably damaging|MGI:2149248|Krt82|keratin 82 [Source:MGI Symbol;Acc:MGI:2149248]|Heterozygous||A|G|80|38.0|Non-synonymous|Line Propagating
5213790|IGL01112|2|76740359|R->Q||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|C|T|78|39.0|Non-synonymous|Line Propagating
5213791|IGL01112|7|41425043|E->G|||MGI:3703084|Vmn2r57|vomeronasal 2, receptor 57 [Source:MGI Symbol;Acc:MGI:3703084]|Heterozygous||T|C|70|38.0|Non-synonymous|Line Propagating
5213792|IGL01112|7|102966028|Disrupted splicing|||MGI:3030410|Olfr576|olfactory receptor 576 [Source:MGI Symbol;Acc:MGI:3030410]|Heterozygous||A|G|69|38.0|Splice|Line Propagating
5213793|IGL01112|12|114391715|T->I|||MGI:4439854|Ighv6-3|immunoglobulin heavy variable 6-3 [Source:MGI Symbol;Acc:MGI:4439854]|Heterozygous||G|A|66|39.0|Non-synonymous|Line Propagating
5213794|IGL01112|14|41132570|N->I|0.49|Possibly damaging|MGI:109518|Sftpa1|surfactant associated protein A1 [Source:MGI Symbol;Acc:MGI:109518]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.|A|T|58|36.5|Non-synonymous|Line Propagating
5213795|IGL01112|14|88467200|M->K||Benign|MGI:2443376|Pcdh20|protocadherin 20 [Source:MGI Symbol;Acc:MGI:2443376]|Heterozygous||A|T|58|37.5|Non-synonymous|Line Propagating
5213796|IGL01112|6|108176016|F->S|1.0|Probably damaging|MGI:1889844|Sumf1|sulfatase modifying factor 1 [Source:MGI Symbol;Acc:MGI:1889844]|Heterozygous|Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration.|A|G|57|35.0|Non-synonymous|Line Propagating
5213797|IGL01112|1|150632552|Disrupted splicing|||MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||A|T|52|39.0|Splice|Line Propagating
5213798|IGL01112|7|135714016|I->N|0.99|Probably damaging|MGI:106035|Mki67|antigen identified by monoclonal antibody Ki 67 [Source:MGI Symbol;Acc:MGI:106035]|Heterozygous||A|T|52|38.0|Non-synonymous|Line Propagating
5213799|IGL01112|15|77526437|D->V|1.0|Probably damaging|MGI:1920912|Apol7c|apolipoprotein L 7c [Source:MGI Symbol;Acc:MGI:1920912]|Heterozygous||T|A|50|38.0|Non-synonymous|Line Propagating
5213800|IGL01112|18|20094622|I->V|0.04|Benign|MGI:109173|Dsc1|desmocollin 1 [Source:MGI Symbol;Acc:MGI:109173]|Heterozygous|Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16.|T|C|50|37.0|Non-synonymous|Line Propagating
5213801|IGL01112|5|64102882|I->F|0.48|Possibly damaging|MGI:97564|Pgm1|phosphoglucomutase 1 [Source:MGI Symbol;Acc:MGI:97564]|Heterozygous|Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable.|A|T|50|37.0|Non-synonymous|Line Propagating
5213802|IGL01112|2|121173601|V->A|0.01|Benign|MGI:1196293|Tubgcp4|tubulin, gamma complex associated protein 4 [Source:MGI Symbol;Acc:MGI:1196293]|Heterozygous||T|C|49|36.0|Non-synonymous|Line Propagating
5213803|IGL01112|6|83653200|I->M||Benign|MGI:1859834|Clec4f|C-type lectin domain family 4, member f [Source:MGI Symbol;Acc:MGI:1859834]|Heterozygous||T|C|43|39.0|Non-synonymous|Line Propagating
5213804|IGL01112|7|144637145|I->V|||MGI:2142149|Ano1|anoctamin 1, calcium activated chloride channel [Source:MGI Symbol;Acc:MGI:2142149]|Heterozygous|Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology.|T|C|39|35.0|Non-synonymous|Line Propagating
5213805|IGL01112|10|4410793|Disrupted splicing|||MGI:1913334|Rmnd1|required for meiotic nuclear division 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913334]|Heterozygous||T|C|38|38.5|Splice|Line Propagating
5213806|IGL01112|8|57485089|F->L|0.97|Probably damaging|MGI:1929129|Sap30|sin3 associated polypeptide [Source:MGI Symbol;Acc:MGI:1929129]|Heterozygous||A|G|38|39.0|Non-synonymous|Line Propagating
5213807|IGL01112|17|35194600|T->A|0.09|Benign|MGI:104796|Ltb|lymphotoxin B [Source:MGI Symbol;Acc:MGI:104796]|Heterozygous|Homozygotes for targeted null mutations lack peripheral lymph nodes, Peyer's patches, splenic germinal centers and follicular dendritic cells. Mutants exhibit lymphocytosis in the circulation and peritoneal cavity with infiltrations of the lung and liver.|A|G|37|35.0|Non-synonymous|Line Propagating
5213808|IGL01112|12|100916803|D->E|0.02|Benign|MGI:1915589|Ccdc88c|coiled-coil domain containing 88C [Source:MGI Symbol;Acc:MGI:1915589]|Heterozygous||G|T|31|36.0|Non-synonymous|Line Propagating
5213809|IGL01112|5|121306950|M->I|||MGI:3647820|Gm15800|predicted gene 15800 [Source:MGI Symbol;Acc:MGI:3647820]|Heterozygous||G|T|27|40.0|Non-synonymous|Line Propagating
5213810|IGL01112|2|167512539|M->T|1.0|Probably damaging|MGI:1933159|Rnf114|ring finger protein 114 [Source:MGI Symbol;Acc:MGI:1933159]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
5213811|IGL01112|16|3748912|C->S|0.07|Benign|MGI:1921370|Zfp263|zinc finger protein 263 [Source:MGI Symbol;Acc:MGI:1921370]|Heterozygous||T|A|23|38.0|Non-synonymous|Line Propagating
5213812|IGL01112|16|37017309|N->K|1.0|Probably damaging|MGI:2155399|Polq|polymerase (DNA directed), theta [Source:MGI Symbol;Acc:MGI:2155399]|Heterozygous|Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage.|T|A|22|39.5|Non-synonymous|Line Propagating
5213813|IGL01112|3|122957718|Q->L|1.0|Probably damaging|MGI:2139607|Usp53|ubiquitin specific peptidase 53 [Source:MGI Symbol;Acc:MGI:2139607]|Heterozygous||T|A|22|37.5|Non-synonymous|Line Propagating
5213814|IGL01112|7|126450307|V->A|0.64|Possibly damaging|MGI:105058|Atp2a1|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Source:MGI Symbol;Acc:MGI:105058]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology.|A|G|22|34.0|Non-synonymous|Line Propagating
5213815|IGL01112|7|141605019|Disrupted splicing|||MGI:101920|Ap2a2|adaptor protein complex AP-2, alpha 2 subunit [Source:MGI Symbol;Acc:MGI:101920]|Heterozygous||A|T|22|33.5|Splice|Line Propagating
5213816|IGL01112|18|36762079|Disrupted splicing|||MGI:1915186|Wdr55|WD repeat domain 55 [Source:MGI Symbol;Acc:MGI:1915186]|Heterozygous|Homozygous null mice display embryonic lethality.|T|C|20|38.0|Splice|Line Propagating
5213817|IGL01112|7|82869703|S->T|||MGI:1918252|Mex3b|mex3 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:1918252]|Heterozygous||T|A|20|35.0|Non-synonymous|Line Propagating
5213818|IGL01112|8|123246030|N->K|0.4|Benign|MGI:5141853|1300018i17rik,gm20388|RIKEN cDNA 1300018I17 gene [Source:MGI Symbol;Acc:MGI:1914143],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||G|T|20|35.5|Non-synonymous|Line Propagating
5213819|IGL01112|12|71072733|Disrupted splicing|||MGI:2444354|Arid4a|AT rich interactive domain 4A (RBP1-like) [Source:MGI Symbol;Acc:MGI:2444354]|Heterozygous|Mice homozygous for a knock-out allelle exhibit altered DNA methylation patterns, disrupted hematopoeisis and a portion develop acute myeloid leukemia.|T|C|19|36.0|Splice|Line Propagating
5213820|IGL01112|2|76710464|R->S||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|A|13|32.0|Non-synonymous|Line Propagating
5213821|IGL01112|9|67311811|R->L|1.0|Probably damaging|MGI:1917799|Tln2|talin 2 [Source:MGI Symbol;Acc:MGI:1917799]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.|C|A|13|39.0|Non-synonymous|Line Propagating
5213822|IGL01112|18|43766994|C->S||Unknown|MGI:2153470|Scgb3a2|secretoglobin, family 3A, member 2 [Source:MGI Symbol;Acc:MGI:2153470]|Heterozygous||T|A|12|38.5|Non-synonymous|Line Propagating
5213823|IGL01112|5|14681069|H->L|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|T|12|33.5|Non-synonymous|Line Propagating
5213824|IGL01112|19|30158513|Disrupted splicing|||MGI:1341155|Gldc|glycine decarboxylase [Source:MGI Symbol;Acc:MGI:1341155]|Heterozygous||C|T|10|39.0|Splice|Line Propagating
5213825|IGL01112|3|116924273|S->P|1.0|Probably damaging|MGI:2148896|Palmd|palmdelphin [Source:MGI Symbol;Acc:MGI:2148896]|Heterozygous||A|G|10|37.0|Non-synonymous|Line Propagating
5214416|IGL01113|17|19394256|V->A|||MGI:3644540|Vmn2r99|vomeronasal 2, receptor 99 [Source:MGI Symbol;Acc:MGI:3644540]|Heterozygous||T|C|417|38.0|Non-synonymous|Alive, Line Propagating
5214417|IGL01113|15|74813727|M->I||Benign|MGI:3644767|Gml|GPI anchored molecule like protein [Source:MGI Symbol;Acc:MGI:3644767]|Heterozygous||C|A|176|38.5|Non-synonymous|Alive, Line Propagating
5214418|IGL01113|8|43626152|H->R|1.0|Probably damaging|MGI:3647273|Gm5346|predicted gene 5346 [Source:MGI Symbol;Acc:MGI:3647273]|Heterozygous||T|C|153|38.0|Non-synonymous|Alive, Line Propagating
5214419|IGL01113|2|36850619|D->V|1.0|Probably damaging|MGI:3030184|Olfr350|olfactory receptor 350 [Source:MGI Symbol;Acc:MGI:3030184]|Heterozygous||A|T|126|38.0|Non-synonymous|Alive, Line Propagating
5214420|IGL01113|8|119582578|I->N|1.0|Probably damaging|MGI:1915520|Dnaaf1|dynein, axonemal assembly factor 1 [Source:MGI Symbol;Acc:MGI:1915520]|Heterozygous||T|A|106|35.0|Non-synonymous|Alive, Line Propagating
5214421|IGL01113|11|67202180|T->A|0.02|Benign|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|A|G|82|38.0|Non-synonymous|Alive, Line Propagating
5214422|IGL01113|13|102774236|C->F|1.0|Probably damaging|MGI:1918885|Mast4|microtubule associated serine/threonine kinase family member 4 [Source:MGI Symbol;Acc:MGI:1918885]|Heterozygous||C|A|74|37.0|Non-synonymous|Alive, Line Propagating
5214423|IGL01113|7|135397142|D->G||Unknown|MGI:1926057|4930544l04rik|RIKEN cDNA 4930544L04 gene [Source:MGI Symbol;Acc:MGI:1926057]|Heterozygous||A|G|71|38.0|Non-synonymous|Alive, Line Propagating
5214424|IGL01113|7|126767825|S->R||Benign|MGI:1915866|Gdpd3|glycerophosphodiester phosphodiesterase domain containing 3 [Source:MGI Symbol;Acc:MGI:1915866]|Heterozygous||C|A|67|37.0|Non-synonymous|Alive, Line Propagating
5214425|IGL01113|4|134148761|V->I|0.05|Benign|MGI:1917262|Ccdc21|coiled-coil domain containing 21 [Source:MGI Symbol;Acc:MGI:1917262]|Heterozygous||C|T|65|39.0|Non-synonymous|Alive, Line Propagating
5214426|IGL01113|13|81489028|F->L||Benign|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|A|T|62|39.0|Non-synonymous|Alive, Line Propagating
5214427|IGL01113|6|113060060|S->P|0.9|Possibly damaging|MGI:1277973|Thumpd3|THUMP domain containing 3 [Source:MGI Symbol;Acc:MGI:1277973]|Heterozygous||T|C|61|37.0|Non-synonymous|Alive, Line Propagating
5214428|IGL01113|4|121318324|C->F|0.98|Probably damaging|MGI:3652130|Gm12888|predicted gene 12888 [Source:MGI Symbol;Acc:MGI:3652130]|Heterozygous||C|A|60|38.0|Non-synonymous|Alive, Line Propagating
5214429|IGL01113|12|38781792|Disrupted splicing|||MGI:99254|Etv1|ets variant gene 1 [Source:MGI Symbol;Acc:MGI:99254]|Heterozygous||T|C|57|38.0|Splice|Alive, Line Propagating
5214430|IGL01113|4|83661810|W->L|0.99|Probably damaging|MGI:1922152|Ccdc171|coiled-coil domain containing 171 [Source:MGI Symbol;Acc:MGI:1922152]|Heterozygous||G|T|50|39.5|Non-synonymous|Alive, Line Propagating
5214431|IGL01113|19|56310116|T->A|0.04|Benign|MGI:1196378|Habp2|hyaluronic acid binding protein 2 [Source:MGI Symbol;Acc:MGI:1196378]|Heterozygous||A|G|49|36.0|Non-synonymous|Alive, Line Propagating
5214432|IGL01113|14|21092393|N->S|1.0|Probably damaging|MGI:87930|Adk|adenosine kinase [Source:MGI Symbol;Acc:MGI:87930]|Heterozygous|Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation.|A|G|46|38.0|Non-synonymous|Alive, Line Propagating
5214433|IGL01113|14|29300731|Disrupted splicing|||MGI:1338890|Cacna2d3|calcium channel, voltage-dependent, alpha2/delta subunit 3 [Source:MGI Symbol;Acc:MGI:1338890]|Heterozygous|Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity.|A|G|45|35.0|Splice|Alive, Line Propagating
5214434|IGL01113|7|86321153|D->E||Benign|MGI:3030142|Olfr308|olfactory receptor 308 [Source:MGI Symbol;Acc:MGI:3030142]|Heterozygous||A|T|40|40.0|Non-synonymous|Alive, Line Propagating
5214435|IGL01113|3|126780412|A->E|1.0|Probably damaging|MGI:1341265|Camk2d|calcium/calmodulin-dependent protein kinase II, delta [Source:MGI Symbol;Acc:MGI:1341265]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress.|C|A|38|36.5|Non-synonymous|Alive, Line Propagating
5214436|IGL01113|6|83179897|S->P|0.08|Benign|MGI:107745|Dctn1|dynactin 1 [Source:MGI Symbol;Acc:MGI:107745]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis.|T|C|37|34.0|Non-synonymous|Alive, Line Propagating
5214437|IGL01113|6|70215788|P->S|||MGI:3526936, MGI:4439867, MGI:3045410, MGI:2680928, MGI:3525629, MGI:3624752, MGI:3589938, MGI:3526938, MGI:3526935, MGI:3526937|Ac158672.1||Heterozygous||C|T|35|37.0|Non-synonymous|Alive, Line Propagating
5214438|IGL01113|8|70338284|D->E||Benign|MGI:107995|Upf1|UPF1 regulator of nonsense transcripts homolog (yeast) [Source:MGI Symbol;Acc:MGI:107995]|Heterozygous|Mice homozygous for a targeted null mutation are viable in the pre-implantation period but resorb in the early post-implantation period.|A|C|34|37.0|Non-synonymous|Alive, Line Propagating
5214439|IGL01113|5|149429907|I->T|0.02|Benign|MGI:1917967|6330406i15rik|RIKEN cDNA 6330406I15 gene [Source:MGI Symbol;Acc:MGI:1917967]|Heterozygous||T|C|31|38.0|Non-synonymous|Alive, Line Propagating
5214440|IGL01113|18|49912751|K->R|||MGI:2443926|Dmxl1|Dmx-like 1 [Source:MGI Symbol;Acc:MGI:2443926]|Heterozygous||A|G|28|36.0|Non-synonymous|Alive, Line Propagating
5214441|IGL01113|12|70031779|L->M|1.0|Probably damaging|MGI:105108|Nin|ninein [Source:MGI Symbol;Acc:MGI:105108]|Heterozygous||G|T|26|37.0|Non-synonymous|Alive, Line Propagating
5214442|IGL01113|13|41042143|W->R|1.0|Probably damaging|MGI:96913|Mak|male germ cell-associated kinase [Source:MGI Symbol;Acc:MGI:96913]|Heterozygous|Males homozygous for a targeted null mutation exhibit slight reductions in litter size and sperm motility in vitro.|A|T|26|36.5|Non-synonymous|Alive, Line Propagating
5214443|IGL01113|6|18270253|Y->C|1.0|Probably damaging|MGI:88388|Cftr|cystic fibrosis transmembrane conductance regulator [Source:MGI Symbol;Acc:MGI:88388]|Heterozygous|Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.|A|G|25|34.0|Non-synonymous|Alive, Line Propagating
5214444|IGL01113|17|35929559|N->K|0.95|Possibly damaging|MGI:1289273|Ppp1r10|protein phosphatase 1, regulatory subunit 10 [Source:MGI Symbol;Acc:MGI:1289273]|Heterozygous||T|A|17|39.0|Non-synonymous|Alive, Line Propagating
5214445|IGL01113|1|107051059|Q->Stop||N/A|MGI:3573933|Serpinb3a|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A [Source:MGI Symbol;Acc:MGI:3573933]|Heterozygous||G|A|15|34.0|Non-synonymous|Alive, Line Propagating
5214446|IGL01113|4|41115749|D->G|1.0|Probably damaging|MGI:2140151|Nol6|nucleolar protein family 6 (RNA-associated) [Source:MGI Symbol;Acc:MGI:2140151]|Heterozygous||T|C|15|37.0|Non-synonymous|Alive, Line Propagating
5214447|IGL01113|8|91260739|Disrupted splicing|||MGI:1920563|Rpgrip1l|Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563]|Heterozygous|Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.|T|C|15|39.0|Splice|Alive, Line Propagating
5214448|IGL01113|15|77963315|T->M|1.0|Probably damaging|MGI:1933181|Eif3d|eukaryotic translation initiation factor 3, subunit D [Source:MGI Symbol;Acc:MGI:1933181]|Heterozygous||G|A|14|36.5|Non-synonymous|Alive, Line Propagating
5214449|IGL01113|5|113570739|V->A|1.0|Probably damaging|MGI:2445030|Wscd2|WSC domain containing 2 [Source:MGI Symbol;Acc:MGI:2445030]|Heterozygous||T|C|10|36.0|Non-synonymous|Alive, Line Propagating
5215049|IGL01114|9|14464197|Y->H|1.0|Probably damaging|MGI:3606484|Kdm4d|lysine (K)-specific demethylase 4D [Source:MGI Symbol;Acc:MGI:3606484]|Heterozygous||A|G|133|36.0|Non-synonymous|Line Propagating
5215050|IGL01114|9|19883548|Y->Stop||N/A|MGI:3030696|Olfr862|olfactory receptor 862 [Source:MGI Symbol;Acc:MGI:3030696]|Heterozygous||A|T|110|39.5|Non-synonymous|Line Propagating
5215051|IGL01114|5|31498401|D->Y|0.98|Probably damaging|MGI:1921504|Gpn1|GPN-loop GTPase 1 [Source:MGI Symbol;Acc:MGI:1921504]|Heterozygous||G|T|75|39.0|Non-synonymous|Line Propagating
5215052|IGL01114|5|120916844|V->I|0.01|Benign|MGI:2140770|Oas1d|2'-5' oligoadenylate synthetase 1D [Source:MGI Symbol;Acc:MGI:2140770]|Heterozygous|Homozygous null females exhibit reduced fertility due to defects in ovarian follicle development and decreased efficiency of ovulation.|G|A|75|39.0|Non-synonymous|Line Propagating
5215053|IGL01114|19|13191234|D->G|||MGI:3031296|Olfr1462|olfactory receptor 1462 [Source:MGI Symbol;Acc:MGI:3031296]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
5215054|IGL01114|4|128369130|T->I|0.05|Benign|MGI:2386401|Csmd2|CUB and Sushi multiple domains 2 [Source:MGI Symbol;Acc:MGI:2386401]|Heterozygous||C|T|71|37.0|Non-synonymous|Line Propagating
5215055|IGL01114|10|4558550|D->E|||MGI:2685067|Ccdc170|coiled-coil domain containing 170 [Source:MGI Symbol;Acc:MGI:2685067]|Heterozygous||C|A|65|37.0|Non-synonymous|Line Propagating
5215056|IGL01114|17|25373222|V->A|0.01|Benign|MGI:1349391|Tpsg1|tryptase gamma 1 [Source:MGI Symbol;Acc:MGI:1349391]|Heterozygous||T|C|65|35.0|Non-synonymous|Line Propagating
5215057|IGL01114|15|98598976|V->M|||MGI:87917|Adcy6|adenylate cyclase 6 [Source:MGI Symbol;Acc:MGI:87917]|Heterozygous|Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle.|C|T|52|35.0|Non-synonymous|Line Propagating
5215058|IGL01114|7|120361420|Y->D|0.66|Possibly damaging|MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||T|G|48|35.0|Non-synonymous|Line Propagating
5215059|IGL01114|17|32052819|P->S|0.26|Benign|MGI:1919712|Rrp1b|ribosomal RNA processing 1 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919712]|Heterozygous||C|T|47|39.0|Non-synonymous|Line Propagating
5215060|IGL01114|1|34579289|I->V||Unknown|MGI:1920839|1700101i19rik|RIKEN cDNA 1700101I19 gene [Source:MGI Symbol;Acc:MGI:1920839]|Heterozygous||T|C|46|40.0|Non-synonymous|Line Propagating
5215061|IGL01114|14|50850639|V->M|1.0|Probably damaging|MGI:109573|Tep1|telomerase associated protein 1 [Source:MGI Symbol;Acc:MGI:109573]|Heterozygous|Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length.|C|T|45|38.0|Non-synonymous|Line Propagating
5215062|IGL01114|1|111860061|R->Stop||N/A|MGI:2442948|Dsel|dermatan sulfate epimerase-like [Source:MGI Symbol;Acc:MGI:2442948]|Heterozygous||G|A|44|39.5|Non-synonymous|Line Propagating
5215063|IGL01114|8|72744505|K->R|0.14|Benign|MGI:107158|Sin3b|transcriptional regulator, SIN3B (yeast) [Source:MGI Symbol;Acc:MGI:107158]|Heterozygous|Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation.|A|G|39|37.0|Non-synonymous|Line Propagating
5215064|IGL01114|12|101989839|N->K|0.9|Possibly damaging|MGI:1861601|Cpsf2|cleavage and polyadenylation specific factor 2 [Source:MGI Symbol;Acc:MGI:1861601]|Heterozygous||T|G|38|38.0|Non-synonymous|Line Propagating
5215065|IGL01114|7|19047573|D->G|||MGI:1915438|Sympk|symplekin [Source:MGI Symbol;Acc:MGI:1915438]|Heterozygous||A|G|33|36.0|Non-synonymous|Line Propagating
5215066|IGL01114|12|103437533|Disrupted splicing|||MGI:1277180|Ifi27l1|interferon, alpha-inducible protein 27 like 1 [Source:MGI Symbol;Acc:MGI:1277180]|Heterozygous||T|C|27|37.0|Splice|Line Propagating
5215067|IGL01114|12|110967779|D->G|0.54|Possibly damaging|MGI:2144865|Tecpr2|tectonin beta-propeller repeat containing 2 [Source:MGI Symbol;Acc:MGI:2144865]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
5215068|IGL01114|3|96893549|F->I||Benign|MGI:1914799|Gpr89|G protein-coupled receptor 89 [Source:MGI Symbol;Acc:MGI:1914799]|Heterozygous||A|T|25|40.0|Non-synonymous|Line Propagating
5215069|IGL01114|13|24857156|L->Q|0.96|Probably damaging|MGI:3036268|D130043k22rik|RIKEN cDNA D130043K22 gene [Source:MGI Symbol;Acc:MGI:3036268]|Heterozygous||T|A|24|36.0|Non-synonymous|Line Propagating
5215070|IGL01114|7|46104664|K->R||Benign|MGI:1352629|Abcc8|ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:MGI Symbol;Acc:MGI:1352629]|Heterozygous|Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.|T|C|24|36.0|Non-synonymous|Line Propagating
5215071|IGL01114|5|72305011|D->E|0.8|Possibly damaging|MGI:1349451|Corin|corin [Source:MGI Symbol;Acc:MGI:1349451]|Heterozygous|Homozygous null mice display hypertension that is enhanced by high-salt diet and pregnancy, increased body weight, and cardiac hypertrophy.|A|C|22|38.5|Non-synonymous|Line Propagating
5215072|IGL01114|9|53388579|Disrupted splicing|||MGI:1923765|Kdelc2|KDEL (Lys-Asp-Glu-Leu) containing 2 [Source:MGI Symbol;Acc:MGI:1923765]|Heterozygous||T|C|21|35.0|Splice|Line Propagating
5215073|IGL01114|2|27005190|I->V|0.03|Benign|MGI:2685556|Adamts13|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 [Source:MGI Symbol;Acc:MGI:2685556]|Heterozygous||A|G|20|36.0|Non-synonymous|Line Propagating
5215074|IGL01114|2|104258166|S->Stop||N/A|MGI:2181743|D430041d05rik|RIKEN cDNA D430041D05 gene [Source:MGI Symbol;Acc:MGI:2181743]|Heterozygous||G|T|20|34.0|Non-synonymous|Line Propagating
5215075|IGL01114|7|24872576|P->L|1.0|Probably damaging|MGI:1918491|Dmrtc2|doublesex and mab-3 related transcription factor like family C2 [Source:MGI Symbol;Acc:MGI:1918491]|Heterozygous|Males homozygous for a targeted allele are sterile.|C|T|19|39.0|Non-synonymous|Line Propagating
5215076|IGL01114|2|83876728|W->Stop||N/A|MGI:2444579|Fam171b|family with sequence similarity 171, member B [Source:MGI Symbol;Acc:MGI:2444579]|Heterozygous||G|A|16|37.5|Non-synonymous|Line Propagating
5215077|IGL01114|1|80213135|Y->C|1.0|Probably damaging|MGI:3026880|Fam124b|family with sequence similarity 124, member B [Source:MGI Symbol;Acc:MGI:3026880]|Heterozygous||T|C|12|33.0|Non-synonymous|Line Propagating
5215078|IGL01114|13|91757592|Disrupted splicing|||MGI:1921406|Acot12|acyl-CoA thioesterase 12 [Source:MGI Symbol;Acc:MGI:1921406]|Heterozygous||T|A|12|38.0|Splice|Line Propagating
5215657|IGL01115|16|69861651|W->Stop||N/A|MGI:2668488|Speer2|spermatogenesis associated glutamate (E)-rich protein 2 [Source:MGI Symbol;Acc:MGI:2668488]|Heterozygous||C|T|172|36.5|Non-synonymous|Line Propagating
5215658|IGL01115|9|107534582|L->Q|0.95|Probably damaging|MGI:1930765|Tmem115|transmembrane protein 115 [Source:MGI Symbol;Acc:MGI:1930765]|Heterozygous||T|A|118|36.0|Non-synonymous|Line Propagating
5215659|IGL01115|14|31545128|Disrupted splicing|||MGI:1338761|Colq|collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Source:MGI Symbol;Acc:MGI:1338761]|Heterozygous|Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation.|A|G|113|38.0|Splice|Line Propagating
5215660|IGL01115|8|106878688|T->A|0.32|Benign|MGI:109599|Has3|hyaluronan synthase 3 [Source:MGI Symbol;Acc:MGI:109599]|Heterozygous|Mice homozygous for a null allele are viable and fertile with normal static and dynamic compliances and display a reduced high tidal volume ventilation-induced inflammatory response.|A|G|93|35.0|Non-synonymous|Line Propagating
5215661|IGL01115|11|118285960|L->F|1.0|Probably damaging|MGI:1919594|Usp36|ubiquitin specific peptidase 36 [Source:MGI Symbol;Acc:MGI:1919594]|Heterozygous||G|A|74|36.0|Non-synonymous|Line Propagating
5215662|IGL01115|19|10900203|T->M|0.94|Possibly damaging|MGI:106247|Prpf19|PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:106247]|Heterozygous|Mice homozygous for a null allele die prior to implantation and have defective cell proliferation.|C|T|70|39.0|Non-synonymous|Line Propagating
5215663|IGL01115|19|28944442|R->G|0.4|Benign|MGI:1918036|4430402i18rik|RIKEN cDNA 4430402I18 gene [Source:MGI Symbol;Acc:MGI:1918036]|Heterozygous||T|C|61|37.0|Non-synonymous|Line Propagating
5215664|IGL01115|14|67714697|V->A|0.96|Probably damaging|MGI:1919787|Cdca2|cell division cycle associated 2 [Source:MGI Symbol;Acc:MGI:1919787]|Heterozygous||A|G|60|37.0|Non-synonymous|Line Propagating
5215665|IGL01115|1|88095245|Q->L|0.12|Benign|MGI:3576092, MGI:3580642, MGI:3032636, MGI:3576090|Ugt1a10,ugt1a7c,ugt1a8,ugt1a9|UDP glycosyltransferase 1 family, polypeptide A10 [Source:MGI Symbol;Acc:MGI:3580642],UDP glucuronosyltransferase 1 family, polypeptide A8 [Source:MGI Symbol;Acc:MGI:3576090],UDP glucuronosyltransferase 1 family, polypeptide A7C [Source:MGI Symbol;Acc:MGI:3032636],UDP glucuronosyltransferase 1 family, polypeptide A9 [Source:MGI Symbol;Acc:MGI:3576092]|Heterozygous||A|T|58|37.0|Non-synonymous|Line Propagating
5215666|IGL01115|16|56259440|P->S|0.54|Possibly damaging|MGI:3044955|Impg2|interphotoreceptor matrix proteoglycan 2 [Source:MGI Symbol;Acc:MGI:3044955]|Heterozygous||C|T|58|38.0|Non-synonymous|Line Propagating
5215667|IGL01115|8|117557329|W->R|1.0|Probably damaging|MGI:97616|Plcg2|phospholipase C, gamma 2 [Source:MGI Symbol;Acc:MGI:97616]|Heterozygous|Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.|T|C|58|34.0|Non-synonymous|Line Propagating
5215668|IGL01115|13|100443720|Disrupted splicing|||MGI:1298223|Naip1|NLR family, apoptosis inhibitory protein 1 [Source:MGI Symbol;Acc:MGI:1298223]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|T|A|55|37.0|Splice|Line Propagating
5215669|IGL01115|17|33242580|K->Stop||N/A|MGI:4834570|Zfp955a|zinc finger protein 955A [Source:MGI Symbol;Acc:MGI:4834570]|Heterozygous||T|A|52|39.5|Non-synonymous|Line Propagating
5215670|IGL01115|19|47075082|V->A|||MGI:2442144|Taf5|TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:2442144]|Heterozygous||T|C|48|35.0|Non-synonymous|Line Propagating
5215671|IGL01115|4|43258492|V->E|0.94|Possibly damaging|MGI:1342278|Unc13b|unc-13 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:1342278]|Heterozygous|Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures.|T|A|48|31.5|Non-synonymous|Line Propagating
5215672|IGL01115|6|17654123|N->S|0.57|Possibly damaging|MGI:106222|Capza2|capping protein (actin filament) muscle Z-line, alpha 2 [Source:MGI Symbol;Acc:MGI:106222]|Heterozygous||A|G|48|39.0|Non-synonymous|Line Propagating
5215673|IGL01115|16|91659458|T->A|0.21|Benign|MGI:98353|Son|Son DNA binding protein [Source:MGI Symbol;Acc:MGI:98353]|Heterozygous||A|G|47|39.0|Non-synonymous|Line Propagating
5215674|IGL01115|2|148707169|Y->C|0.99|Probably damaging|MGI:104562|Napb|N-ethylmaleimide sensitive fusion protein attachment protein beta [Source:MGI Symbol;Acc:MGI:104562]|Heterozygous|Mice homozygous for a knock-out allele exhibit seizures, ataxia, abnormal synaptic vesicle priming, and premature death.|T|C|45|39.0|Non-synonymous|Line Propagating
5215675|IGL01115|6|48906197|S->P|1.0|Probably damaging|MGI:1923757|Abp1|amiloride binding protein 1 (amine oxidase, copper-containing) [Source:MGI Symbol;Acc:MGI:1923757]|Heterozygous||T|C|43|35.0|Non-synonymous|Line Propagating
5215676|IGL01115|8|72200619|S->P|0.92|Possibly damaging|MGI:2676364|Hsh2d|hematopoietic SH2 domain containing [Source:MGI Symbol;Acc:MGI:2676364]|Heterozygous||T|C|42|36.5|Non-synonymous|Line Propagating
5215677|IGL01115|9|23399689|Disrupted splicing|||MGI:1920480|Bmper|BMP-binding endothelial regulator [Source:MGI Symbol;Acc:MGI:1920480]|Heterozygous|Mice homozygous for a knock-out mutation exhibit neonatal lethality associated with abnormal lung and skeleton development. Mice heterozygous for a null allele exhibit abnromal lung development.|T|C|39|38.0|Splice|Line Propagating
5215678|IGL01115|15|6847201|Disrupted splicing|||MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|A|G|37|39.0|Splice|Line Propagating
5215679|IGL01115|10|79859962|Disrupted splicing|||MGI:97791|Ptbp1|polypyrimidine tract binding protein 1 [Source:MGI Symbol;Acc:MGI:97791]|Heterozygous||T|A|35|39.0|Splice|Line Propagating
5215680|IGL01115|7|135670764|D->E|1.0|Probably damaging|MGI:97813|Ptpre|protein tyrosine phosphatase, receptor type, E [Source:MGI Symbol;Acc:MGI:97813]|Heterozygous||T|A|35|38.0|Non-synonymous|Line Propagating
5215681|IGL01115|1|75192615|L->P|||MGI:1098746|Ankzf1|ankyrin repeat and zinc finger domain containing 1 [Source:MGI Symbol;Acc:MGI:1098746]|Heterozygous||T|C|33|35.0|Non-synonymous|Line Propagating
5215682|IGL01115|14|69721323|S->P|0.96|Probably damaging|MGI:1913922|Chmp7|charged multivesicular body protein 7 [Source:MGI Symbol;Acc:MGI:1913922]|Heterozygous||A|G|33|37.0|Non-synonymous|Line Propagating
5215683|IGL01115|2|87635384|D->G|1.0|Probably damaging|MGI:3030966|Olfr1132|olfactory receptor 1132 [Source:MGI Symbol;Acc:MGI:3030966]|Heterozygous||T|C|33|38.0|Non-synonymous|Line Propagating
5215684|IGL01115|3|157546691|S->P||Unknown|MGI:1858211|Zranb2|zinc finger, RAN-binding domain containing 2 [Source:MGI Symbol;Acc:MGI:1858211]|Heterozygous||T|C|28|37.5|Non-synonymous|Line Propagating
5215685|IGL01115|16|45660789|D->G|1.0|Probably damaging|MGI:2686594|Tmprss7|transmembrane serine protease 7 [Source:MGI Symbol;Acc:MGI:2686594]|Heterozygous||T|C|23|37.0|Non-synonymous|Line Propagating
5215686|IGL01115|17|46310426|T->A||Benign|MGI:2386976|Abcc10|ATP-binding cassette, sub-family C (CFTR/MRP), member 10 [Source:MGI Symbol;Acc:MGI:2386976]|Heterozygous|Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells.|T|C|20|36.0|Non-synonymous|Line Propagating
5215687|IGL01115|2|131074502|N->S|||MGI:99668|Siglec1|sialic acid binding Ig-like lectin 1, sialoadhesin [Source:MGI Symbol;Acc:MGI:99668]|Heterozygous|Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels.|T|C|20|31.0|Non-synonymous|Line Propagating
5215688|IGL01115|3|45392775|T->A|0.99|Probably damaging|MGI:1338042|Pcdh10|protocadherin 10 [Source:MGI Symbol;Acc:MGI:1338042]|Heterozygous|Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon.|A|G|20|37.0|Non-synonymous|Line Propagating
5215689|IGL01115|5|122264207|S->P||Benign|MGI:3603820|Tctn1|tectonic family member 1 [Source:MGI Symbol;Acc:MGI:3603820]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
5215690|IGL01115|6|149009748|Disrupted splicing|||MGI:2444273|Dennd5b|DENN/MADD domain containing 5B [Source:MGI Symbol;Acc:MGI:2444273]|Heterozygous||A|G|15|39.0|Splice|Line Propagating
5215691|IGL01115|16|57276117|Disrupted splicing|||MGI:1918277|Tmem30c|transmembrane protein 30C [Source:MGI Symbol;Acc:MGI:1918277]|Heterozygous||T|A|14|35.0|Splice|Line Propagating
5216261|IGL01116|1|52090723|I->K|0.99|Probably damaging|MGI:103062, MGI:3782114|Stat4,gm3940|predicted gene 3940 [Source:MGI Symbol;Acc:MGI:3782114],signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]|Heterozygous||A|T|154|38.0|Non-synonymous|Line Propagating
5216262|IGL01116|6|69400051|G->E|||MGI:2680928, MGI:3643587, MGI:3525629, MGI:3045410, MGI:3589938, MGI:3526937, MGI:3624752, MGI:3526936, MGI:3526935, MGI:3526938|Ac156953.2|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QNZ9]|Heterozygous||C|T|110|38.0|Non-synonymous|Line Propagating
5216263|IGL01116|14|59323182|I->K|0.12|Benign|MGI:3645789|Gm4902|predicted gene 4902 [Source:MGI Symbol;Acc:MGI:3645789]|Heterozygous||A|T|109|39.0|Non-synonymous|Line Propagating
5216265|IGL01116|14|32959977|D->E|0.99|Probably damaging|MGI:3584510|Wdfy4|WD repeat and FYVE domain containing 4 [Source:MGI Symbol;Acc:MGI:3584510]|Heterozygous||A|T|92|38.0|Non-synonymous|Line Propagating
5216266|IGL01116|6|69700937|S->L|||MGI:2685915|Igkv4-50|immunoglobulin kappa variable 4-50 [Source:MGI Symbol;Acc:MGI:2685915]|Heterozygous||G|A|89|37.0|Non-synonymous|Line Propagating
5216267|IGL01116|5|109340428|L->Q|0.99|Probably damaging|MGI:3647194|Vmn2r16|vomeronasal 2, receptor 16 [Source:MGI Symbol;Acc:MGI:3647194]|Heterozygous||T|A|85|40.0|Non-synonymous|Line Propagating
5216268|IGL01116|14|50035050|M->L|0.28|Benign|MGI:3030559|Olfr725|olfactory receptor 725 [Source:MGI Symbol;Acc:MGI:3030559]|Heterozygous||T|A|76|39.0|Non-synonymous|Line Propagating
5216269|IGL01116|4|133247128|S->G|0.92|Possibly damaging|MGI:1855691|Map3k6|mitogen-activated protein kinase kinase kinase 6 [Source:MGI Symbol;Acc:MGI:1855691]|Heterozygous|Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis.|A|G|74|36.5|Non-synonymous|Line Propagating
5216270|IGL01116|18|53194423|Disrupted splicing|||MGI:1915054|Snx2|sorting nexin 2 [Source:MGI Symbol;Acc:MGI:1915054]|Heterozygous|Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities.|C|T|72|38.0|Splice|Line Propagating
5216271|IGL01116|2|125098482|M->T|0.36|Benign|MGI:104592|Myef2|myelin basic protein expression factor 2, repressor [Source:MGI Symbol;Acc:MGI:104592]|Heterozygous||A|G|71|38.0|Non-synonymous|Line Propagating
5216272|IGL01116|1|6802632|D->G|0.01|Benign|MGI:2446700|St18|suppression of tumorigenicity 18 [Source:MGI Symbol;Acc:MGI:2446700]|Heterozygous||A|G|67|38.0|Non-synonymous|Line Propagating
5216273|IGL01116|7|27239857|V->A|0.48|Possibly damaging|MGI:1924139|Adck4|aarF domain containing kinase 4 [Source:MGI Symbol;Acc:MGI:1924139]|Heterozygous||T|C|67|35.0|Non-synonymous|Line Propagating
5216274|IGL01116|15|96693185|Disrupted splicing|||MGI:1915010|Slc38a2|solute carrier family 38, member 2 [Source:MGI Symbol;Acc:MGI:1915010]|Heterozygous||T|C|58|40.0|Splice|Line Propagating
5216275|IGL01116|1|180972089|I->V|0.48|Possibly damaging|MGI:2384789|Tmem63a|transmembrane protein 63a [Source:MGI Symbol;Acc:MGI:2384789]|Heterozygous||A|G|55|35.0|Non-synonymous|Line Propagating
5216276|IGL01116|2|71293352|Disrupted splicing|||MGI:1926080|Slc25a12|solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:MGI Symbol;Acc:MGI:1926080]|Heterozygous|Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.|A|T|54|37.0|Splice|Line Propagating
5216277|IGL01116|4|43640248|S->P|0.95|Possibly damaging|MGI:97372|Npr2|natriuretic peptide receptor 2 [Source:MGI Symbol;Acc:MGI:97372]|Heterozygous||T|C|45|39.0|Non-synonymous|Line Propagating
5216278|IGL01116|2|70289386|L->P|||MGI:2448580|Myo3b|myosin IIIB [Source:MGI Symbol;Acc:MGI:2448580]|Heterozygous||T|C|42|39.5|Non-synonymous|Line Propagating
5216279|IGL01116|12|118886176|M->L||Benign|MGI:1924956|Abcb5|ATP-binding cassette, sub-family B (MDR/TAP), member 5 [Source:MGI Symbol;Acc:MGI:1924956]|Heterozygous||T|A|40|38.0|Non-synonymous|Line Propagating
5216280|IGL01116|18|39111803|V->A|0.97|Probably damaging|MGI:1918552|Arhgap26|Rho GTPase activating protein 26 [Source:MGI Symbol;Acc:MGI:1918552]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
5216281|IGL01116|8|111112710|I->T|0.98|Probably damaging|MGI:2442188|Pdpr|pyruvate dehydrogenase phosphatase regulatory subunit [Source:MGI Symbol;Acc:MGI:2442188]|Heterozygous||T|C|35|40.0|Non-synonymous|Line Propagating
5216282|IGL01116|15|79251232|S->R|0.99|Probably damaging|MGI:1929519|Slc16a8|solute carrier family 16 (monocarboxylic acid transporters), member 8 [Source:MGI Symbol;Acc:MGI:1929519]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced visual function, putatively due to changes in the ionic composition of the outer retina.|T|G|34|35.0|Non-synonymous|Line Propagating
5216283|IGL01116|8|13405404|D->G|||MGI:1345146|Grk1|G protein-coupled receptor kinase 1 [Source:MGI Symbol;Acc:MGI:1345146]|Heterozygous|Analysis of homozygous null mice revealed abnormal photoresponses and light-induced apoptosis in rods. Mutant mice may serve as models of Oguchi disease and retinal degeneration.|A|G|34|36.0|Non-synonymous|Line Propagating
5216284|IGL01116|12|114223033|S->P|||MGI:4439763|Ighv7-4|immunoglobulin heavy variable 7-4 [Source:MGI Symbol;Acc:MGI:4439763]|Heterozygous||A|G|33|37.0|Non-synonymous|Line Propagating
5216285|IGL01116|2|91154543|Disrupted splicing|||MGI:2444672|Madd|MAP-kinase activating death domain [Source:MGI Symbol;Acc:MGI:2444672]|Heterozygous||A|G|32|37.0|Splice|Line Propagating
5216286|IGL01116|9|108566869|R->Q|0.2|Benign|MGI:1913956|Ndufaf3|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 [Source:MGI Symbol;Acc:MGI:1913956]|Heterozygous||C|T|32|35.0|Non-synonymous|Line Propagating
5216287|IGL01116|13|59649656|K->R|0.99|Probably damaging|MGI:1917329|Golm1|golgi membrane protein 1 [Source:MGI Symbol;Acc:MGI:1917329]|Heterozygous|Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis.|T|C|31|38.0|Non-synonymous|Line Propagating
5216288|IGL01116|15|76498203|V->A||Benign|MGI:96238|Hsf1|heat shock factor 1 [Source:MGI Symbol;Acc:MGI:96238]|Heterozygous|Inactivation of this gene results in female infertility. Additional abnormalities observed in one line of targeted mice include placental defects, growth retardation, loss of the classical heat shock response, and impaired immune response.|T|C|31|38.0|Non-synonymous|Line Propagating
5216289|IGL01116|12|91648748|N->K|0.13|Benign|MGI:1918272|Ston2|stonin 2 [Source:MGI Symbol;Acc:MGI:1918272]|Heterozygous||G|T|30|37.0|Non-synonymous|Line Propagating
5216290|IGL01116|14|122891755|N->S|1.0|Probably damaging|MGI:2385008|A2ld1|AIG2-like domain 1 [Source:MGI Symbol;Acc:MGI:2385008]|Heterozygous||T|C|30|35.0|Non-synonymous|Line Propagating
5216291|IGL01116|1|59186004|Disrupted splicing|||MGI:1921268|Als2|amyotrophic lateral sclerosis 2 (juvenile) [Source:MGI Symbol;Acc:MGI:1921268]|Heterozygous|Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract.|T|C|29|39.0|Splice|Line Propagating
5216292|IGL01116|13|55543453|S->T|0.09|Benign|MGI:2385851|Fam193b|family with sequence similarity 193, member B [Source:MGI Symbol;Acc:MGI:2385851]|Heterozygous||A|T|29|34.0|Non-synonymous|Line Propagating
5216293|IGL01116|7|29100202|Disrupted splicing|||MGI:99659|Ryr1|ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]|Heterozygous|Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.|A|G|28|37.0|Splice|Line Propagating
5216294|IGL01116|17|45638880|Disrupted splicing|||MGI:1352490|Capn11|calpain 11 [Source:MGI Symbol;Acc:MGI:1352490]|Heterozygous||A|T|25|36.0|Splice|Line Propagating
5216295|IGL01116|19|4902839|Disrupted splicing|||MGI:1277215|Bbs1|Bardet-Biedl syndrome 1 (human) [Source:MGI Symbol;Acc:MGI:1277215]|Heterozygous|Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons.|A|G|25|37.0|Splice|Line Propagating
5216296|IGL01116|3|88055005|E->G|0.99|Probably damaging|MGI:1913864|Gpatch4|G patch domain containing 4 [Source:MGI Symbol;Acc:MGI:1913864]|Heterozygous||A|G|25|39.0|Non-synonymous|Line Propagating
5216297|IGL01116|1|175901397|C->S||Benign|MGI:1349427|Exo1|exonuclease 1 [Source:MGI Symbol;Acc:MGI:1349427]|Heterozygous|Homozygous mutation of this gene results in reduced life span, lymphoma development, and male/female sterilty due to defective meiosis.|T|A|24|34.5|Non-synonymous|Line Propagating
5216298|IGL01116|11|68531450|Y->C||Benign|MGI:2144613|Pik3r6|phosphoinositide-3-kinase, regulatory subunit 6 [Source:MGI Symbol;Acc:MGI:2144613]|Heterozygous||A|G|24|35.0|Non-synonymous|Line Propagating
5216299|IGL01116|11|57236975|N->D|1.0|Probably damaging|MGI:95808|Gria1|glutamate receptor, ionotropic, AMPA1 (alpha 1) [Source:MGI Symbol;Acc:MGI:95808]|Heterozygous|Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.|A|G|23|39.0|Non-synonymous|Line Propagating
5216300|IGL01116|2|25213179|Disrupted splicing|||MGI:1921722|4933433c11rik|RIKEN cDNA 4933433C11 gene [Source:MGI Symbol;Acc:MGI:1921722]|Heterozygous||A|G|21|37.0|Splice|Line Propagating
5216301|IGL01116|1|161083287|S->I|0.97|Probably damaging|MGI:1917704|Cenpl|centromere protein L [Source:MGI Symbol;Acc:MGI:1917704]|Heterozygous||G|T|20|38.0|Non-synonymous|Line Propagating
5216302|IGL01116|17|84606928|D->V|0.57|Possibly damaging|MGI:2146813|Plekhh2|pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 [Source:MGI Symbol;Acc:MGI:2146813]|Heterozygous||A|T|20|33.0|Non-synonymous|Line Propagating
5216303|IGL01116|5|139771682|D->G|||MGI:1915760|Ints1|integrator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1915760]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.|T|C|20|35.0|Non-synonymous|Line Propagating
5216304|IGL01116|4|144972750|K->N||Unknown|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||C|A|18|40.0|Non-synonymous|Line Propagating
5216305|IGL01116|5|129864972|Disrupted splicing|||MGI:97579|Phkg1|phosphorylase kinase gamma 1 [Source:MGI Symbol;Acc:MGI:97579]|Heterozygous||T|C|17|38.0|Splice|Line Propagating
5216306|IGL01116|10|79866923|T->A|1.0|Probably damaging|MGI:2388640|Bc005764|cDNA sequence BC005764 [Source:MGI Symbol;Acc:MGI:2388640]|Heterozygous||T|C|15|37.0|Non-synonymous|Line Propagating
5216307|IGL01116|19|41606385|W->L|0.98|Probably damaging|MGI:1315203|Slit1|slit homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315203]|Heterozygous|Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology.|C|A|13|40.0|Non-synonymous|Line Propagating
5216308|IGL01116|17|80445500|V->D|1.0|Probably damaging|MGI:98354|Sos1|son of sevenless homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:98354]|Heterozygous|Homozygous null mutant embryos exhibit placental and cardiovascular defects resulting in death around mid-gestation. When heterozygous, these mutations enhance the eye defects of homozygous mutants of the epidermal growth factor receptor gene.|A|T|12|35.5|Non-synonymous|Line Propagating
5216309|IGL01116|11|73984318|C->S|1.0|Probably damaging|MGI:3030232|Olfr398|olfactory receptor 398 [Source:MGI Symbol;Acc:MGI:3030232]|Heterozygous||A|T|10|37.0|Non-synonymous|Line Propagating
5216310|IGL01116|15|89281989|F->S|||MGI:1918724|Ppp6r2|protein phosphatase 6, regulatory subunit 2 [Source:MGI Symbol;Acc:MGI:1918724]|Heterozygous||T|C|10|39.0|Non-synonymous|Line Propagating
5216311|IGL01116|X|7812466|G->D||Benign|MGI:1859616|Gripap1|GRIP1 associated protein 1 [Source:MGI Symbol;Acc:MGI:1859616]|Heterozygous||G|A|10|38.5|Non-synonymous|Line Propagating
5217489|IGL01118|12|87773442|N->Y|||MGI:3780242|Gm2075|predicted pseudogene 2075 [Source:MGI Symbol;Acc:MGI:3780242]|Heterozygous||T|A|197|39.0|Non-synonymous|Alive, Line Propagating
5217490|IGL01118|5|124595668|V->A|0.88|Possibly damaging|MGI:1277143|Gtf2h3|general transcription factor IIH, polypeptide 3 [Source:MGI Symbol;Acc:MGI:1277143]|Heterozygous||T|C|163|38.0|Non-synonymous|Alive, Line Propagating
5217491|IGL01118|6|70698994|S->C|||MGI:3526936, MGI:3526937, MGI:3526938, MGI:3624752, MGI:1330850, MGI:2680928, MGI:3525629, MGI:3045410, MGI:3526935, MGI:3589938|Ac153612.2||Heterozygous||A|T|116|38.0|Non-synonymous|Alive, Line Propagating
5217492|IGL01118|1|32519843|M->K|0.15|Benign|MGI:3641910, MGI:2159649|Khdrbs2,gm9839|KH domain containing, RNA binding, signal transduction associated 2 [Source:MGI Symbol;Acc:MGI:2159649],predicted gene 9839 [Source:MGI Symbol;Acc:MGI:3641910]|Heterozygous||A|T|102|40.0|Non-synonymous|Alive, Line Propagating
5217493|IGL01118|19|9012578|D->V|0.52|Possibly damaging|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|A|T|81|38.0|Non-synonymous|Alive, Line Propagating
5217494|IGL01118|X|36888757|F->S|1.0|Probably damaging|MGI:1924536|Nkrf|NF-kappaB repressing factor [Source:MGI Symbol;Acc:MGI:1924536]|Heterozygous|Homozygous female and hemizygous male null mice are viable and fertile with normal inflammatory responses, response to infection, peripheral blood cell populations and skin morphology.|A|G|81|38.0|Non-synonymous|Alive, Line Propagating
5217495|IGL01118|4|60659780|F->I|1.0|Probably damaging|MGI:3709617|Mup11|major urinary protein 11 [Source:MGI Symbol;Acc:MGI:3709617]|Heterozygous||A|T|65|36.0|Non-synonymous|Alive, Line Propagating
5217496|IGL01118|11|79546986|C->S|1.0|Probably damaging|MGI:97306|Nf1|neurofibromatosis 1 [Source:MGI Symbol;Acc:MGI:97306]|Heterozygous|Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits.|T|A|60|38.0|Non-synonymous|Alive, Line Propagating
5217497|IGL01118|16|20186304|S->A|0.23|Benign|MGI:2447762|Yeats2|YEATS domain containing 2 [Source:MGI Symbol;Acc:MGI:2447762]|Heterozygous||T|G|56|40.0|Non-synonymous|Alive, Line Propagating
5217498|IGL01118|7|18428092|V->D|1.0|Probably damaging|MGI:1891360|Psg28|pregnancy-specific glycoprotein 28 [Source:MGI Symbol;Acc:MGI:1891360]|Heterozygous||A|T|53|38.0|Non-synonymous|Alive, Line Propagating
5217499|IGL01118|10|78057286|F->S|1.0|Probably damaging|MGI:1859287|Dnmt3l|DNA (cytosine-5-)-methyltransferase 3-like [Source:MGI Symbol;Acc:MGI:1859287]|Heterozygous|Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation.|T|C|51|36.0|Non-synonymous|Alive, Line Propagating
5217500|IGL01118|10|24076861|H->L|1.0|Probably damaging|MGI:2685076|Taar8a|trace amine-associated receptor 8A [Source:MGI Symbol;Acc:MGI:2685076]|Heterozygous||A|T|48|36.5|Non-synonymous|Alive, Line Propagating
5217501|IGL01118|6|85424210|S->P|0.01|Benign|MGI:3053002|Noto|notochord homolog (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:3053002]|Heterozygous||T|C|48|35.0|Non-synonymous|Alive, Line Propagating
5217502|IGL01118|2|24442932|Disrupted splicing|||MGI:97492|Pax8|paired box gene 8 [Source:MGI Symbol;Acc:MGI:97492]|Heterozygous|Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.|T|C|39|38.0|Splice|Alive, Line Propagating
5217503|IGL01118|3|124401409|R->Q|0.27|Benign|MGI:1919074|1700006a11rik|RIKEN cDNA 1700006A11 gene [Source:MGI Symbol;Acc:MGI:1919074]|Heterozygous||C|T|38|38.0|Non-synonymous|Alive, Line Propagating
5217504|IGL01118|5|61810063|M->L|||MGI:105977|G6pd2|glucose-6-phosphate dehydrogenase 2 [Source:MGI Symbol;Acc:MGI:105977]|Heterozygous||A|T|33|38.0|Non-synonymous|Alive, Line Propagating
5217505|IGL01118|9|9831560|Y->C|0.21|Benign|MGI:3042287|Cntn5|contactin 5 [Source:MGI Symbol;Acc:MGI:3042287]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive, Line Propagating
5217506|IGL01118|11|120475214|V->A|1.0|Probably damaging|MGI:104681|Hgs|HGF-regulated tyrosine kinase substrate [Source:MGI Symbol;Acc:MGI:104681]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis with decreased size and no embryo turning. In addition, one allele shows cardia bifida, no foregut formation, failure of chorioallantoic fusion and neural tube, somite and allantois defects.|T|C|32|36.0|Non-synonymous|Alive, Line Propagating
5217507|IGL01118|17|25854687|L->Q|||MGI:1921267|Wdr90|WD repeat domain 90 [Source:MGI Symbol;Acc:MGI:1921267]|Heterozygous||A|T|28|37.5|Non-synonymous|Alive, Line Propagating
5217508|IGL01118|7|79098653|S->R|0.01|Benign|MGI:99602|Acan|aggrecan [Source:MGI Symbol;Acc:MGI:99602]|Heterozygous|Mutations in this gene result in dwarfism, skeletal abnormalities, and cranial facial defects. Neonatal death is due to pulmonary hypoplasia.|T|A|22|39.0|Non-synonymous|Alive, Line Propagating
5217509|IGL01118|X|104598106|Q->K|0.22|Benign|MGI:1915336|Zdhhc15|zinc finger, DHHC domain containing 15 [Source:MGI Symbol;Acc:MGI:1915336]|Heterozygous||G|T|22|39.0|Non-synonymous|Alive, Line Propagating
5217510|IGL01118|6|132893315|N->S||Benign|MGI:2681217|Tas2r113|taste receptor, type 2, member 113 [Source:MGI Symbol;Acc:MGI:2681217]|Heterozygous||A|G|21|39.0|Non-synonymous|Alive, Line Propagating
5217511|IGL01118|2|86753970|I->T|||MGI:3030924|Olfr1090|olfactory receptor 1090 [Source:MGI Symbol;Acc:MGI:3030924]|Heterozygous||A|G|20|39.0|Non-synonymous|Alive, Line Propagating
5217512|IGL01118|10|93531568|D->E||Benign|MGI:1919011|Amdhd1|amidohydrolase domain containing 1 [Source:MGI Symbol;Acc:MGI:1919011]|Heterozygous||A|T|19|37.0|Non-synonymous|Alive, Line Propagating
5217513|IGL01118|11|60187438|F->S|1.0|Probably damaging|MGI:103291|Rai1|retinoic acid induced 1 [Source:MGI Symbol;Acc:MGI:103291]|Heterozygous|Mice homozygous for disruptions of this gene usually die as embryos. Survivors have shortened life spans and show severe craniofacial and axial skeleton defects.|T|C|19|30.0|Non-synonymous|Alive, Line Propagating
5217514|IGL01118|16|17902932|I->N|1.0|Probably damaging|MGI:107854|Dgcr14|DiGeorge syndrome critical region gene 14 [Source:MGI Symbol;Acc:MGI:107854]|Heterozygous||A|T|18|37.0|Non-synonymous|Alive, Line Propagating
5217515|IGL01118|5|8674687|R->H|1.0|Probably damaging|MGI:97570|Abcb1a|ATP-binding cassette, sub-family B (MDR/TAP), member 1A [Source:MGI Symbol;Acc:MGI:97570]|Heterozygous|Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine.|G|A|18|38.5|Non-synonymous|Alive, Line Propagating
5217516|IGL01118|3|100967097|Disrupted splicing|||MGI:1921294|Ttf2|transcription termination factor, RNA polymerase II [Source:MGI Symbol;Acc:MGI:1921294]|Heterozygous||A|G|17|39.0|Splice|Alive, Line Propagating
5217517|IGL01118|7|64235824|T->A|0.24|Benign|MGI:1330305|Trpm1|transient receptor potential cation channel, subfamily M, member 1 [Source:MGI Symbol;Acc:MGI:1330305]|Heterozygous|Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses.|A|G|16|37.0|Non-synonymous|Alive, Line Propagating
5217518|IGL01118|7|30242781|H->R|0.96|Probably damaging|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||T|C|14|34.0|Non-synonymous|Alive, Line Propagating
5217519|IGL01118|11|70134189|E->G|0.01|Benign|MGI:2385729|Mgl2|macrophage galactose N-acetyl-galactosamine specific lectin 2 [Source:MGI Symbol;Acc:MGI:2385729]|Heterozygous||A|G|11|39.0|Non-synonymous|Alive, Line Propagating
5218760|IGL01120|17|19792997|T->S||Benign|MGI:3644032|Vmn2r103|vomeronasal 2, receptor 103 [Source:MGI Symbol;Acc:MGI:3644032]|Heterozygous||A|T|92|37.0|Non-synonymous|Alive
5218761|IGL01120|5|36021252|E->G|0.88|Possibly damaging|MGI:1932289|Sorcs2|sortilin-related VPS10 domain containing receptor 2 [Source:MGI Symbol;Acc:MGI:1932289]|Heterozygous||T|C|85|37.0|Non-synonymous|Alive
5218762|IGL01120|7|108055567|M->R|0.83|Possibly damaging|MGI:3030313|Olfr479|olfactory receptor 479 [Source:MGI Symbol;Acc:MGI:3030313]|Heterozygous||T|G|70|39.0|Non-synonymous|Alive
5218763|IGL01120|11|57317669|K->E|0.99|Probably damaging|MGI:95808|Gria1|glutamate receptor, ionotropic, AMPA1 (alpha 1) [Source:MGI Symbol;Acc:MGI:95808]|Heterozygous|Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine.|A|G|68|39.0|Non-synonymous|Alive
5218764|IGL01120|13|67177166|Disrupted splicing|||MGI:3044162|Rsl1|regulator of sex limited protein 1 [Source:MGI Symbol;Acc:MGI:3044162]|Heterozygous||T|C|56|38.0|Splice|Alive
5218765|IGL01120|11|84907278|L->P|0.85|Possibly damaging|MGI:1913446|Myo19|myosin XIX [Source:MGI Symbol;Acc:MGI:1913446]|Heterozygous||T|C|53|35.0|Non-synonymous|Alive
5218766|IGL01120|19|45640516|A->E|0.03|Benign|MGI:1354698|Fbxw4|F-box and WD-40 domain protein 4 [Source:MGI Symbol;Acc:MGI:1354698]|Heterozygous|Homozygotes for a spontaneous null mutation lack feet except for a single fused digit and die prenatally. Heterozygotes, in the presence of a recessive modifying allele, show loss of digits, frequently with fused metatarsal and metacarpal bones.|G|T|49|40.0|Non-synonymous|Alive
5218767|IGL01120|10|117770241|Disrupted splicing|||MGI:2143854|Nup107|nucleoporin 107 [Source:MGI Symbol;Acc:MGI:2143854]|Heterozygous||A|G|40|37.5|Splice|Alive
5218768|IGL01120|2|66526972|K->R|||MGI:107636|Scn9a|sodium channel, voltage-gated, type IX, alpha [Source:MGI Symbol;Acc:MGI:107636]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.|T|C|40|38.0|Non-synonymous|Alive
5218769|IGL01120|3|101897166|L->P|||MGI:3607704|Slc22a15|solute carrier family 22 (organic anion/cation transporter), member 15 [Source:MGI Symbol;Acc:MGI:3607704]|Heterozygous||A|G|38|38.0|Non-synonymous|Alive
5218770|IGL01120|5|135011475|Disrupted splicing|||MGI:1916008|Abhd11|abhydrolase domain containing 11 [Source:MGI Symbol;Acc:MGI:1916008]|Heterozygous||T|A|38|35.5|Splice|Alive
5218771|IGL01120|4|91264072|M->K|0.95|Possibly damaging|MGI:1100887|Elavl2|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) [Source:MGI Symbol;Acc:MGI:1100887]|Heterozygous||A|T|37|38.0|Non-synonymous|Alive
5218772|IGL01120|12|17308293|E->K|1.0|Probably damaging|MGI:1916025|Atp6v1c2|ATPase, H+ transporting, lysosomal V1 subunit C2 [Source:MGI Symbol;Acc:MGI:1916025]|Heterozygous||C|T|35|37.0|Non-synonymous|Alive
5218773|IGL01120|10|79816787|Disrupted splicing|||MGI:1261814|Palm|paralemmin [Source:MGI Symbol;Acc:MGI:1261814]|Heterozygous||A|G|34|35.0|Splice|Alive
5218774|IGL01120|5|146102861|S->T||Benign|MGI:3769707|Cyp3a59|cytochrome P450, subfamily 3A, polypeptide 59 [Source:MGI Symbol;Acc:MGI:3769707]|Heterozygous||T|A|34|32.5|Non-synonymous|Alive
5218775|IGL01120|6|41031673|Y->N|1.0|Probably damaging|MGI:1914623|2210010c04rik|RIKEN cDNA 2210010C04 gene [Source:MGI Symbol;Acc:MGI:1914623]|Heterozygous||A|T|33|38.0|Non-synonymous|Alive
5218776|IGL01120|17|48237249|T->A|0.59|Possibly damaging|MGI:1930005|Trem1|triggering receptor expressed on myeloid cells 1 [Source:MGI Symbol;Acc:MGI:1930005]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive
5218777|IGL01120|15|44505312|Disrupted splicing|||MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||G|A|31|41.0|Splice|Alive
5218778|IGL01120|4|66840425|T->I||Benign|MGI:96824|Tlr4|toll-like receptor 4 [Source:MGI Symbol;Acc:MGI:96824]|Heterozygous|Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria.|C|T|29|39.0|Non-synonymous|Alive
5218779|IGL01120|17|25322133|K->E|0.14|Benign|MGI:2149952|Prss29|protease, serine, 29 [Source:MGI Symbol;Acc:MGI:2149952]|Heterozygous||A|G|28|38.0|Non-synonymous|Alive
5218780|IGL01120|2|94371796|E->G|1.0|Probably damaging|MGI:1921819|Ttc17|tetratricopeptide repeat domain 17 [Source:MGI Symbol;Acc:MGI:1921819]|Heterozygous||T|C|28|35.0|Non-synonymous|Alive
5218781|IGL01120|4|40730248|I->N|0.99|Probably damaging|MGI:1270129|Dnaja1|DnaJ (Hsp40) homolog, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:1270129]|Heterozygous|Male mice homozygous for a knock-out allele exhibit decreased postnatal growth and reduced fertility with severe defects in late stages of spermatogenesis that involve aberrant androgen receptor signaling in Sertoli cells and disruption of Sertoli-germ cell adherens junctions.|T|A|28|39.5|Non-synonymous|Alive
5218782|IGL01120|5|89132379|H->Q|1.0|Probably damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|C|A|28|37.0|Non-synonymous|Alive
5218783|IGL01120|7|141084182|L->Stop||N/A|MGI:1891830|Pkp3|plakophilin 3 [Source:MGI Symbol;Acc:MGI:1891830]|Heterozygous|Mice homozygous for a null allele exhibit retarded hair growth, epidermal thickening and abnormal hair follicles that lead to secondary alopecia and acute dermatitis.|T|A|28|37.0|Non-synonymous|Alive
5218784|IGL01120|13|55409071|L->H|1.0|Probably damaging|MGI:1345284|Slc34a1|solute carrier family 34 (sodium phosphate), member 1 [Source:MGI Symbol;Acc:MGI:1345284]|Heterozygous|Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status.|T|A|25|36.0|Non-synonymous|Alive
5218785|IGL01120|9|53461122|Disrupted splicing|||MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|T|C|25|34.0|Splice|Alive
5218786|IGL01120|9|66428880|F->S||Benign|MGI:2384589|Herc1|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 [Source:MGI Symbol;Acc:MGI:2384589]|Heterozygous|Homozygotes for this spontaneous mutation exhibit an abnormal cerebellar Purkinje cell layer and Purkinje cell degeneration.|T|C|25|39.0|Non-synonymous|Alive
5218787|IGL01120|11|82806022|V->I|0.93|Possibly damaging|MGI:1914588|Rffl|ring finger and FYVE like domain containing protein [Source:MGI Symbol;Acc:MGI:1914588]|Heterozygous|Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype.|C|T|23|39.0|Non-synonymous|Alive
5218788|IGL01120|12|98844019|V->I||Benign|MGI:2442513|Eml5|echinoderm microtubule associated protein like 5 [Source:MGI Symbol;Acc:MGI:2442513]|Heterozygous||C|T|22|39.0|Non-synonymous|Alive
5218789|IGL01120|5|145152243|Disrupted splicing|||MGI:1919049|Ptcd1|pentatricopeptide repeat domain 1 [Source:MGI Symbol;Acc:MGI:1919049]|Heterozygous||C|T|22|38.0|Splice|Alive
5218790|IGL01120|7|140296559|L->P|0.04|Benign|MGI:2443685|5830411n06rik|RIKEN cDNA 5830411N06 gene [Source:MGI Symbol;Acc:MGI:2443685]|Heterozygous||T|C|22|37.5|Non-synonymous|Alive
5218791|IGL01120|X|135746363|I->T|0.99|Probably damaging|MGI:2148026|Armcx5|armadillo repeat containing, X-linked 5 [Source:MGI Symbol;Acc:MGI:2148026]|Heterozygous||T|C|21|40.0|Non-synonymous|Alive
5218792|IGL01120|14|72556662|T->I|0.46|Possibly damaging|MGI:1196463|Fndc3a|fibronectin type III domain containing 3A [Source:MGI Symbol;Acc:MGI:1196463]|Heterozygous|Males homozygous for an insertional mutation are sterile; females are fertile. In mutant males, spermatids form multinucleated syncytia and fail to mature, while Sertoli cells exhibit abnormal cytoplasmic vacuoles.|G|A|19|39.0|Non-synonymous|Alive
5218793|IGL01120|3|93201168|S->A||Unknown|MGI:3645678|Flg2|filaggrin family member 2 [Source:MGI Symbol;Acc:MGI:3645678]|Heterozygous||T|G|19|37.0|Non-synonymous|Alive
5218794|IGL01120|11|120720010|V->A||Benign|MGI:2387183|Lrrc45|leucine rich repeat containing 45 [Source:MGI Symbol;Acc:MGI:2387183]|Heterozygous||T|C|18|35.0|Non-synonymous|Alive
5218795|IGL01120|3|122278737|Disrupted splicing|||MGI:1923173|Dnttip2|deoxynucleotidyltransferase, terminal, interacting protein 2 [Source:MGI Symbol;Acc:MGI:1923173]|Heterozygous||C|T|18|38.5|Splice|Alive
5218796|IGL01120|9|27003774|M->K|0.15|Benign|MGI:1925112|Thyn1|thymocyte nuclear protein 1 [Source:MGI Symbol;Acc:MGI:1925112]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive
5218797|IGL01120|17|24505369|T->A|0.6|Possibly damaging|MGI:2442952|Caskin1|CASK interacting protein 1 [Source:MGI Symbol;Acc:MGI:2442952]|Heterozygous||A|G|16|35.0|Non-synonymous|Alive
5218798|IGL01120|6|11962740|V->A|0.18|Benign|MGI:1923539|Phf14|PHD finger protein 14 [Source:MGI Symbol;Acc:MGI:1923539]|Heterozygous||T|C|14|39.0|Non-synonymous|Alive
5218799|IGL01120|9|110727130|H->R|1.0|Probably damaging|MGI:97801|Pth1r|parathyroid hormone 1 receptor [Source:MGI Symbol;Acc:MGI:97801]|Heterozygous|Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization.|T|C|14|35.0|Non-synonymous|Alive
5218800|IGL01120|17|45539668|D->V|0.88|Possibly damaging|MGI:98640|Tcte1|t-complex-associated testis expressed 1 [Source:MGI Symbol;Acc:MGI:98640]|Heterozygous||A|T|13|32.0|Non-synonymous|Alive
5218801|IGL01120|7|104553345|V->A||Benign|MGI:3030485|Olfr651|olfactory receptor 651 [Source:MGI Symbol;Acc:MGI:3030485]|Heterozygous||T|C|13|40.0|Non-synonymous|Alive
5218802|IGL01120|7|45184198|S->Y|0.98|Probably damaging|MGI:2687329|Ccdc155|coiled-coil domain containing 155 [Source:MGI Symbol;Acc:MGI:2687329]|Heterozygous||G|T|12|36.5|Non-synonymous|Alive
5218803|IGL01120|5|135967963|D->Y|1.0|Probably damaging|MGI:1924709|Srcrb4d|scavenger receptor cysteine rich domain containing, group B (4 domains) [Source:MGI Symbol;Acc:MGI:1924709]|Heterozygous||C|A|11|37.0|Non-synonymous|Alive
5219417|IGL01121|X|149804328|R->S|0.97|Probably damaging|MGI:3710639|Gm15097|predicted gene 15097 [Source:MGI Symbol;Acc:MGI:3710639]|Heterozygous||A|T|220|39.0|Non-synonymous|Line Propagating
5219418|IGL01121|X|24552615|D->N|0.04|Benign|MGI:3782476|Gm4297|predicted gene 4297 [Source:MGI Symbol;Acc:MGI:3782476]|Heterozygous||C|T|162|40.0|Non-synonymous|Line Propagating
5219419|IGL01121|17|18136504|V->A|0.67|Possibly damaging|MGI:3645072|Vmn2r91|vomeronasal 2, receptor 91 [Source:MGI Symbol;Acc:MGI:3645072]|Heterozygous||T|C|159|38.0|Non-synonymous|Line Propagating
5219420|IGL01121|18|62755148|A->V|||MGI:1919803|2700046a07rik|RIKEN cDNA 2700046A07 gene [Source:MGI Symbol;Acc:MGI:1919803]|Heterozygous||G|A|106|35.0|Non-synonymous|Line Propagating
5219421|IGL01121|7|24351551|Y->F||Benign|MGI:1924192|Lypd5|Ly6/Plaur domain containing 5 [Source:MGI Symbol;Acc:MGI:1924192]|Heterozygous||A|T|97|35.0|Non-synonymous|Line Propagating
5219422|IGL01121|17|19589674|G->C|0.86|Possibly damaging|MGI:3648468|Vmn2r101|vomeronasal 2, receptor 101 [Source:MGI Symbol;Acc:MGI:3648468]|Heterozygous||G|T|95|37.0|Non-synonymous|Line Propagating
5219423|IGL01121|10|129332935|I->T||Benign|MGI:3030615|Olfr781|olfactory receptor 781 [Source:MGI Symbol;Acc:MGI:3030615]|Heterozygous||T|C|67|39.0|Non-synonymous|Line Propagating
5219424|IGL01121|17|45639132|S->P|0.01|Benign|MGI:1352490|Capn11|calpain 11 [Source:MGI Symbol;Acc:MGI:1352490]|Heterozygous||A|G|61|37.0|Non-synonymous|Line Propagating
5219425|IGL01121|15|7873174|K->E|||MGI:1921020|Wdr70|WD repeat domain 70 [Source:MGI Symbol;Acc:MGI:1921020]|Heterozygous||T|C|60|39.0|Non-synonymous|Line Propagating
5219426|IGL01121|5|145184568|V->L|0.77|Possibly damaging|MGI:1927558|Atp5j2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 [Source:MGI Symbol;Acc:MGI:1927558]|Heterozygous||C|A|51|37.0|Non-synonymous|Line Propagating
5219427|IGL01121|16|20610647|E->G|0.07|Benign|MGI:1098592|Alg3|asparagine-linked glycosylation 3 (alpha-1,3-mannosyltransferase) [Source:MGI Symbol;Acc:MGI:1098592]|Heterozygous||T|C|49|38.0|Non-synonymous|Line Propagating
5219428|IGL01121|17|74631038|I->K|||MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|T|A|47|39.0|Non-synonymous|Line Propagating
5219429|IGL01121|7|29574001|I->L|0.1|Benign|MGI:3045259|4930432e11rik|RIKEN cDNA 4930432E11 gene [Source:MGI Symbol;Acc:MGI:3045259]|Heterozygous||A|T|47|39.0|Non-synonymous|Line Propagating
5219430|IGL01121|7|129628022|Y->H|||MGI:1932404|Wdr11|WD repeat domain 11 [Source:MGI Symbol;Acc:MGI:1920230]|Heterozygous||T|C|47|37.0|Non-synonymous|Line Propagating
5219431|IGL01121|16|48944881|D->G||Benign|MGI:1917433|Dzip3|DAZ interacting protein 3, zinc finger [Source:MGI Symbol;Acc:MGI:1917433]|Heterozygous||T|C|44|38.5|Non-synonymous|Line Propagating
5219432|IGL01121|6|60975944|D->G|||MGI:1918195|Mmrn1|multimerin 1 [Source:MGI Symbol;Acc:MGI:1918195]|Heterozygous||A|G|43|38.0|Non-synonymous|Line Propagating
5219433|IGL01121|9|15998401|T->S|0.17|Benign|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||T|A|42|37.0|Non-synonymous|Line Propagating
5219434|IGL01121|2|51627989|T->I|1.0|Probably damaging|MGI:2681300|Tas2r134|taste receptor, type 2, member 134 [Source:MGI Symbol;Acc:MGI:2681300]|Heterozygous||C|T|40|37.0|Non-synonymous|Line Propagating
5219435|IGL01121|11|104335596|S->P|0.98|Probably damaging|MGI:1923969|Kansl1|KAT8 regulatory NSL complex subunit 1 [Source:MGI Symbol;Acc:MGI:1923969]|Heterozygous||A|G|33|39.0|Non-synonymous|Line Propagating
5219436|IGL01121|12|118050695|D->G|0.5|Possibly damaging|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|T|C|33|36.0|Non-synonymous|Line Propagating
5219437|IGL01121|6|41702409|D->G||Benign|MGI:1346053|Kel|Kell blood group [Source:MGI Symbol;Acc:MGI:1346053]|Heterozygous||T|C|32|39.0|Non-synonymous|Line Propagating
5219438|IGL01121|1|182748657|V->I|0.53|Possibly damaging|MGI:3618292|4922505e12rik|RIKEN cDNA 4922505E12 gene [Source:MGI Symbol;Acc:MGI:3618292]|Heterozygous||C|T|29|37.0|Non-synonymous|Line Propagating
5219439|IGL01121|7|48867821|Q->Stop||N/A|MGI:1922038|E2f8|E2F transcription factor 8 [Source:MGI Symbol;Acc:MGI:1922038]|Heterozygous|Mice homozygous for a knock-out allele develop normally through puberty and live to old age.|G|A|28|33.5|Non-synonymous|Line Propagating
5219440|IGL01121|12|103165631|C->Y|0.03|Benign|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||G|A|27|37.0|Non-synonymous|Line Propagating
5219441|IGL01121|15|66005977|Disrupted splicing|||MGI:1336181|Kcnq3|potassium voltage-gated channel, subfamily Q, member 3 [Source:MGI Symbol;Acc:MGI:1336181]|Heterozygous|Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death.|A|T|25|37.0|Splice|Line Propagating
5219442|IGL01121|11|52814637|F->L||Benign|MGI:2443199|Fstl4|follistatin-like 4 [Source:MGI Symbol;Acc:MGI:2443199]|Heterozygous|Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure.|T|C|24|39.0|Non-synonymous|Line Propagating
5219443|IGL01121|3|106735664|S->Stop||N/A|MGI:2445214|Lrif1|ligand dependent nuclear receptor interacting factor 1 [Source:MGI Symbol;Acc:MGI:2445214]|Heterozygous||C|A|24|39.0|Non-synonymous|Line Propagating
5219444|IGL01121|2|126088232|Disrupted splicing|||MGI:95521, MGI:1923073|4930525f21rik,fgf7|fibroblast growth factor 7 [Source:MGI Symbol;Acc:MGI:95521],RIKEN cDNA 4930525F21 gene [Source:MGI Symbol;Acc:MGI:1923073]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE|C|T|23|40.0|Splice|Line Propagating
5219445|IGL01121|3|95776550|L->P|1.0|Probably damaging|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||A|G|23|36.0|Non-synonymous|Line Propagating
5219446|IGL01121|14|8222656|H->R|0.45|Possibly damaging|MGI:1918643|Kctd6|potassium channel tetramerisation domain containing 6 [Source:MGI Symbol;Acc:MGI:1918643]|Heterozygous||A|G|22|39.0|Non-synonymous|Line Propagating
5219447|IGL01121|15|55082325|Disrupted splicing|||MGI:1919357|Dscc1|defective in sister chromatid cohesion 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919357]|Heterozygous||A|G|22|37.0|Splice|Line Propagating
5219448|IGL01121|5|53897062|L->Stop||N/A|MGI:1914499|Tbc1d19|TBC1 domain family, member 19 [Source:MGI Symbol;Acc:MGI:1914499]|Heterozygous||T|A|22|39.0|Non-synonymous|Line Propagating
5219449|IGL01121|16|57040790|D->N|0.47|Possibly damaging|MGI:1916707|2310005g13rik|RIKEN cDNA 2310005G13 gene [Source:MGI Symbol;Acc:MGI:1916707]|Heterozygous||C|T|21|38.0|Non-synonymous|Line Propagating
5219450|IGL01121|5|73007586|C->R|1.0|Probably damaging|MGI:3606480|Slc10a4|solute carrier family 10 (sodium/bile acid cotransporter family), member 4 [Source:MGI Symbol;Acc:MGI:3606480]|Heterozygous||T|C|21|36.0|Non-synonymous|Line Propagating
5219451|IGL01121|10|127583853|C->Stop||N/A|MGI:96828|Lrp1|low density lipoprotein receptor-related protein 1 [Source:MGI Symbol;Acc:MGI:96828]|Heterozygous|Mice homozygous for a null allele exhibit lethality during late organogenesis.|A|T|20|34.0|Non-synonymous|Line Propagating
5219452|IGL01121|4|75954201|Disrupted splicing|||MGI:97812|Ptprd|protein tyrosine phosphatase, receptor type, D [Source:MGI Symbol;Acc:MGI:97812]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake.|A|T|20|40.0|Splice|Line Propagating
5219453|IGL01121|10|18511710|V->G|0.98|Probably damaging|MGI:106390|Nhsl1|NHS-like 1 [Source:MGI Symbol;Acc:MGI:106390]|Heterozygous||T|G|19|38.0|Non-synonymous|Line Propagating
5219454|IGL01121|11|84964346|Disrupted splicing|||MGI:1096574|Car4|carbonic anhydrase 4 [Source:MGI Symbol;Acc:MGI:1096574]|Heterozygous|Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive.|A|T|18|39.0|Splice|Line Propagating
5219455|IGL01121|17|44017884|I->L|0.24|Benign|MGI:1858219|Rcan2|regulator of calcineurin 2 [Source:MGI Symbol;Acc:MGI:1858219]|Heterozygous|Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity.|A|T|16|36.5|Non-synonymous|Line Propagating
5219456|IGL01121|7|4993247|C->F||Benign|MGI:1915740|Zfp579|zinc finger protein 579 [Source:MGI Symbol;Acc:MGI:1915740]|Heterozygous||C|A|16|39.5|Non-synonymous|Line Propagating
5219457|IGL01121|12|101988706|E->D|1.0|Probably damaging|MGI:1861601|Cpsf2|cleavage and polyadenylation specific factor 2 [Source:MGI Symbol;Acc:MGI:1861601]|Heterozygous||G|T|15|35.0|Non-synonymous|Line Propagating
5219458|IGL01121|16|33919989|D->Y|||MGI:96614|Itgb5|integrin beta 5 [Source:MGI Symbol;Acc:MGI:96614]|Heterozygous|Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro.|G|T|12|34.0|Non-synonymous|Line Propagating
5219459|IGL01121|3|122009863|E->G|0.57|Possibly damaging|MGI:2443818|Arhgap29|Rho GTPase activating protein 29 [Source:MGI Symbol;Acc:MGI:2443818]|Heterozygous||A|G|12|38.5|Non-synonymous|Line Propagating
5220062|IGL01122|19|39072177|Disrupted splicing|||MGI:1919553|Cyp2c65|cytochrome P450, family 2, subfamily c, polypeptide 65 [Source:MGI Symbol;Acc:MGI:1919553]|Heterozygous||A|G|112|38.0|Splice|Alive, Line Propagating
5220063|IGL01122|9|95490234|Q->K||Benign|MGI:1915208|U2surp|U2 snRNP-associated SURP domain containing [Source:MGI Symbol;Acc:MGI:1915208]|Heterozygous||G|T|75|38.0|Non-synonymous|Alive, Line Propagating
5220064|IGL01122|4|143728401|D->G|0.36|Benign|MGI:3650231|Gm13078|predicted gene 13078 [Source:MGI Symbol;Acc:MGI:3650231]|Heterozygous||A|G|70|39.0|Non-synonymous|Alive, Line Propagating
5220065|IGL01122|9|109386671|S->T|1.0|Probably damaging|MGI:3643290|Fbxw22|F-box and WD-40 domain protein 22 [Source:MGI Symbol;Acc:MGI:3643290]|Heterozygous||A|T|67|38.0|Non-synonymous|Alive, Line Propagating
5220066|IGL01122|12|55297802|G->D|0.04|Benign|MGI:1930009|Ppp2r3c|protein phosphatase 2, regulatory subunit B'', gamma [Source:MGI Symbol;Acc:MGI:1930009]|Heterozygous||C|T|61|39.0|Non-synonymous|Alive, Line Propagating
5220067|IGL01122|2|120698479|T->K|||MGI:3045258|Stard9|START domain containing 9 [Source:MGI Symbol;Acc:MGI:3045258]|Heterozygous||C|A|59|40.0|Non-synonymous|Alive, Line Propagating
5220068|IGL01122|5|86663517|T->K||Benign|MGI:2442893|Tmprss11bnl|transmembrane protease, serine 11b N terminal like [Source:MGI Symbol;Acc:MGI:2442893]|Heterozygous||G|T|58|37.0|Non-synonymous|Alive, Line Propagating
5220069|IGL01122|17|24893346|A->T|0.02|Benign|MGI:1919889|Eme2|essential meiotic endonuclease 1 homolog 2 (S. pombe) [Source:MGI Symbol;Acc:MGI:1919889]|Heterozygous||C|T|57|36.0|Non-synonymous|Alive, Line Propagating
5220070|IGL01122|2|118876880|Disrupted splicing|||MGI:1929242|Ivd|isovaleryl coenzyme A dehydrogenase [Source:MGI Symbol;Acc:MGI:1929242]|Heterozygous||T|A|52|38.0|Splice|Alive, Line Propagating
5220071|IGL01122|8|61120966|V->I|1.0|Probably damaging|MGI:97303|Nek1|NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]|Heterozygous|Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.|G|A|47|38.0|Non-synonymous|Alive, Line Propagating
5220072|IGL01122|10|60299474|V->A|0.01|Benign|MGI:97783|Psap|prosaposin [Source:MGI Symbol;Acc:MGI:97783]|Heterozygous|Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney.|T|C|46|38.0|Non-synonymous|Alive, Line Propagating
5220073|IGL01122|17|22603007|I->N|||MGI:3644292|Vmn2r112|vomeronasal 2, receptor 112 [Source:MGI Symbol;Acc:MGI:3644292]|Heterozygous||T|A|44|39.5|Non-synonymous|Alive, Line Propagating
5220074|IGL01122|2|89575423|I->T||Benign|MGI:3031079|Olfr1245|olfactory receptor 1245 [Source:MGI Symbol;Acc:MGI:3031079]|Heterozygous||A|G|40|40.0|Non-synonymous|Alive, Line Propagating
5220075|IGL01122|X|101281543|Disrupted splicing|||MGI:1926212|Med12|mediator of RNA polymerase II transcription, subunit 12 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1926212]|Heterozygous||T|C|39|38.0|Splice|Alive, Line Propagating
5220076|IGL01122|1|174332398|Y->C|1.0|Probably damaging|MGI:1913539|1810030j14rik|RIKEN cDNA 1810030J14 gene [Source:MGI Symbol;Acc:MGI:1913539]|Heterozygous||A|G|38|35.0|Non-synonymous|Alive, Line Propagating
5220077|IGL01122|7|92442608|M->V|0.6|Possibly damaging|MGI:1344351|Dlg2|discs, large homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1344351]|Heterozygous|Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.|A|G|34|39.0|Non-synonymous|Alive, Line Propagating
5220078|IGL01122|5|138162373|K->E|0.05|Benign|MGI:1349439|Cops6|COP9 (constitutive photomorphogenic) homolog, subunit 6 (Arabidopsis thaliana) [Source:MGI Symbol;Acc:MGI:1349439]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality. Mice heterozygous for a gene trap allele exhibit increased sensitivity to irradiation and decreased incidence of ionizing radiation-induced tumors.|A|G|33|39.0|Non-synonymous|Alive, Line Propagating
5220079|IGL01122|10|52391815|I->N|1.0|Probably damaging|MGI:1913900|Nepn|nephrocan [Source:MGI Symbol;Acc:MGI:1913900]|Heterozygous||T|A|31|35.0|Non-synonymous|Alive, Line Propagating
5220080|IGL01122|4|126864252|N->S|0.99|Probably damaging|MGI:1915035, MGI:2140475|Zmym4,au040320|expressed sequence AU040320 [Source:MGI Symbol;Acc:MGI:2140475],zinc finger, MYM-type 4 [Source:MGI Symbol;Acc:MGI:1915035]|Heterozygous||T|C|27|37.0|Non-synonymous|Alive, Line Propagating
5220081|IGL01122|9|101211645|L->P|0.06|Benign|MGI:2442104|Ppp2r3a|protein phosphatase 2, regulatory subunit B'', alpha [Source:MGI Symbol;Acc:MGI:2442104]|Heterozygous||A|G|27|39.0|Non-synonymous|Alive, Line Propagating
5220082|IGL01122|16|90248630|S->P||Unknown|MGI:2146350|Scaf4|SR-related CTD-associated factor 4 [Source:MGI Symbol;Acc:MGI:2146350]|Heterozygous||A|G|26|35.0|Non-synonymous|Alive, Line Propagating
5220083|IGL01122|X|105082691|Disrupted splicing|||MGI:1914933|2610029g23rik|RIKEN cDNA 2610029G23 gene [Source:MGI Symbol;Acc:MGI:1914933]|Heterozygous||T|C|26|40.0|Splice|Alive, Line Propagating
5220084|IGL01122|2|59494495|K->I|1.0|Probably damaging|MGI:1923997|Dapl1|death associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1923997]|Heterozygous||A|T|24|36.5|Non-synonymous|Alive, Line Propagating
5220085|IGL01122|4|154253807|R->W|1.0|Probably damaging|MGI:1919351|Megf6|multiple EGF-like-domains 6 [Source:MGI Symbol;Acc:MGI:1919351]|Heterozygous||C|T|24|34.5|Non-synonymous|Alive, Line Propagating
5220086|IGL01122|5|76870675|Stop->Q||N/A|MGI:2444817|C530008m17rik|RIKEN cDNA C530008M17 gene [Source:MGI Symbol;Acc:MGI:2444817]|Heterozygous||T|C|24|35.0|Non-synonymous|Alive, Line Propagating
5220087|IGL01122|9|58016306|I->T|0.99|Probably damaging|MGI:88582|Cyp11a1|cytochrome P450, family 11, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88582]|Heterozygous|Homozygous null mice are exhibit a steroid deficiency and die within days of birth showing signs of dehydration. Males are feminized with female external genitalia and underdeveloped gonads.|T|C|24|37.0|Non-synonymous|Alive, Line Propagating
5220088|IGL01122|X|169246670|K->N|0.12|Benign|MGI:1196332|Arhgap6|Rho GTPase activating protein 6 [Source:MGI Symbol;Acc:MGI:1196332]|Heterozygous|Mice homozygous for a targeted null mutation do not exhibit any observable abnormalities.|A|T|22|36.0|Non-synonymous|Alive, Line Propagating
5220089|IGL01122|11|46456427|Y->C|1.0|Probably damaging|MGI:2159682|Havcr2|hepatitis A virus cellular receptor 2 [Source:MGI Symbol;Acc:MGI:2159682]|Heterozygous||A|G|21|40.0|Non-synonymous|Alive, Line Propagating
5220090|IGL01122|16|90804458|S->T|0.12|Benign|MGI:2146468|Urb1|URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]|Heterozygous||A|T|21|38.0|Non-synonymous|Alive, Line Propagating
5220092|IGL01122|12|81732126|D->G|0.95|Possibly damaging|MGI:2449952|Map3k9|mitogen-activated protein kinase kinase kinase 9 [Source:MGI Symbol;Acc:MGI:2449952]|Heterozygous|Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan.|T|C|19|37.0|Non-synonymous|Alive, Line Propagating
5220093|IGL01122|14|30810311|I->V|1.0|Probably damaging|MGI:1859609|Sfmbt1|Scm-like with four mbt domains 1 [Source:MGI Symbol;Acc:MGI:1859609]|Heterozygous||A|G|19|38.0|Non-synonymous|Alive, Line Propagating
5220094|IGL01122|8|69798905|L->Q|1.0|Probably damaging|MGI:2180801|Atp13a1|ATPase type 13A1 [Source:MGI Symbol;Acc:MGI:2180801]|Heterozygous||T|A|18|34.5|Non-synonymous|Alive, Line Propagating
5220095|IGL01122|1|106173436|R->L|0.9|Possibly damaging|MGI:2138327|Phlpp1|PH domain and leucine rich repeat protein phosphatase 1 [Source:MGI Symbol;Acc:MGI:2138327]|Heterozygous|Mice homozygous for a null mutation display impairment in the ability to stabilize the circadian period after light induced resetting.|G|T|17|40.0|Non-synonymous|Alive, Line Propagating
5220096|IGL01122|8|84614793|Disrupted splicing|||MGI:109482|Cacna1a|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482]|Heterozygous|Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.|T|C|15|35.0|Splice|Alive, Line Propagating
5220097|IGL01122|7|4442695|K->R||Benign|MGI:1918732|Rdh13|retinol dehydrogenase 13 (all-trans and 9-cis) [Source:MGI Symbol;Acc:MGI:1918732]|Heterozygous||T|C|13|35.0|Non-synonymous|Alive, Line Propagating
5220098|IGL01122|9|121168292|I->T|0.03|Benign|MGI:1921622|Ulk4|unc-51-like kinase 4 [Source:MGI Symbol;Acc:MGI:1921622]|Heterozygous||A|G|12|37.5|Non-synonymous|Alive, Line Propagating
5220099|IGL01122|1|75410035|L->P|1.0|Probably damaging|MGI:109282|Speg|SPEG complex locus [Source:MGI Symbol;Acc:MGI:109282]|Heterozygous|Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.|T|C|10|35.5|Non-synonymous|Alive, Line Propagating
5220708|IGL01123|13|22395401|W->R||Benign|MGI:2159660|Vmn1r200|vomeronasal 1 receptor 200 [Source:MGI Symbol;Acc:MGI:2159660]|Heterozygous||T|C|116|39.0|Non-synonymous|Line Propagating
5220709|IGL01123|9|73933197|Y->C||Benign|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|T|C|84|35.0|Non-synonymous|Line Propagating
5220710|IGL01123|7|27240084|V->I|1.0|Probably damaging|MGI:1924139|Adck4|aarF domain containing kinase 4 [Source:MGI Symbol;Acc:MGI:1924139]|Heterozygous||G|A|77|36.0|Non-synonymous|Line Propagating
5220711|IGL01123|14|79428612|V->A|||MGI:2685141|Kbtbd7|kelch repeat and BTB (POZ) domain containing 7 [Source:MGI Symbol;Acc:MGI:2685141]|Heterozygous||T|C|66|39.0|Non-synonymous|Line Propagating
5220712|IGL01123|2|132056816|N->K||Benign|MGI:1859682|Slc23a2|solute carrier family 23 (nucleobase transporters), member 2 [Source:MGI Symbol;Acc:MGI:1859682]|Heterozygous|Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress.|A|C|65|38.0|Non-synonymous|Line Propagating
5220713|IGL01123|4|112804682|L->P|0.01|Benign|MGI:3649262|Skint6|selection and upkeep of intraepithelial T cells 6 [Source:MGI Symbol;Acc:MGI:3649262]|Heterozygous||A|G|48|39.0|Non-synonymous|Line Propagating
5220714|IGL01123|7|81973707|Q->Stop||N/A|MGI:1097164|Bnc1|basonuclin 1 [Source:MGI Symbol;Acc:MGI:1097164]|Heterozygous|Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium.|G|A|48|39.0|Non-synonymous|Line Propagating
5220715|IGL01123|19|6391394|N->S||Benign|MGI:97830|Pygm|muscle glycogen phosphorylase [Source:MGI Symbol;Acc:MGI:97830]|Heterozygous||A|G|46|35.5|Non-synonymous|Line Propagating
5220716|IGL01123|4|127935850|T->S||Benign|MGI:3616080|Ck137956|cDNA sequence CK137956 [Source:MGI Symbol;Acc:MGI:3616080]|Heterozygous||T|A|46|35.0|Non-synonymous|Line Propagating
5220717|IGL01123|6|124778819|D->E||Benign|MGI:1315192|Lrrc23|leucine rich repeat containing 23 [Source:MGI Symbol;Acc:MGI:1315192]|Heterozygous||G|T|44|38.0|Non-synonymous|Line Propagating
5220718|IGL01123|3|38957269|I->L||Benign|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||A|T|40|38.0|Non-synonymous|Line Propagating
5220719|IGL01123|10|81022415|M->L|0.01|Benign|MGI:2183442|Diras1|DIRAS family, GTP-binding RAS-like 1 [Source:MGI Symbol;Acc:MGI:2183442]|Heterozygous||T|A|39|35.0|Non-synonymous|Line Propagating
5220720|IGL01123|9|55545462|G->C|1.0|Probably damaging|MGI:109156|Isl2|insulin related protein 2 (islet 2) [Source:MGI Symbol;Acc:MGI:109156]|Heterozygous||G|T|39|38.0|Non-synonymous|Line Propagating
5220721|IGL01123|5|125419088|S->P|0.06|Benign|MGI:3028576|Dhx37|DEAH (Asp-Glu-Ala-His) box polypeptide 37 [Source:MGI Symbol;Acc:MGI:3028576]|Heterozygous||A|G|38|35.5|Non-synonymous|Line Propagating
5220722|IGL01123|13|100304438|E->G|0.01|Benign|MGI:1298222|Naip6|NLR family, apoptosis inhibitory protein 6 [Source:MGI Symbol;Acc:MGI:1298222]|Heterozygous||T|C|37|38.0|Non-synonymous|Line Propagating
5220723|IGL01123|2|15048978|I->V|0.77|Possibly damaging|MGI:1921705|Nsun6|NOL1/NOP2/Sun domain family member 6 [Source:MGI Symbol;Acc:MGI:1921705]|Heterozygous||T|C|35|40.0|Non-synonymous|Line Propagating
5220724|IGL01123|4|148453037|S->P|0.01|Benign|MGI:1928394|Mtor|mechanistic target of rapamycin (serine/threonine kinase) [Source:MGI Symbol;Acc:MGI:1928394]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality by E12.5 due to abnormal embryogenesis. Mice homozygous for an ENU mutation exhibit embryonic lethality by E12.5 with abnormal embryogenesis and brain development. Mice homozygous for a gene trap allele exhibit abnormal embryogenesis.|T|C|35|38.0|Non-synonymous|Line Propagating
5220725|IGL01123|11|94483395|T->A||Benign|MGI:2183449|Spata20|spermatogenesis associated 20 [Source:MGI Symbol;Acc:MGI:2183449]|Heterozygous||T|C|34|34.5|Non-synonymous|Line Propagating
5220726|IGL01123|11|94972287|Q->L|1.0|Probably damaging|MGI:894698|Sgca|sarcoglycan, alpha (dystrophin-associated glycoprotein) [Source:MGI Symbol;Acc:MGI:894698]|Heterozygous|Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy.|T|A|34|35.5|Non-synonymous|Line Propagating
5220727|IGL01123|10|116188317|T->A||Benign|MGI:109559|Ptprr|protein tyrosine phosphatase, receptor type, R [Source:MGI Symbol;Acc:MGI:109559]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.|A|G|33|35.0|Non-synonymous|Line Propagating
5220728|IGL01123|12|84357664|W->R||Benign|MGI:2443027|Fam161b|family with sequence similarity 161, member B [Source:MGI Symbol;Acc:MGI:2443027]|Heterozygous||A|G|28|34.5|Non-synonymous|Line Propagating
5220729|IGL01123|3|101835130|T->M|0.85|Possibly damaging|MGI:2446273|Mab21l3|mab-21-like 3 (C. elegans) [Source:MGI Symbol;Acc:MGI:2446273]|Heterozygous||G|A|28|38.0|Non-synonymous|Line Propagating
5220730|IGL01123|9|108115986|F->I|0.98|Probably damaging|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|A|T|28|37.5|Non-synonymous|Line Propagating
5220731|IGL01123|10|52120809|Y->N|1.0|Probably damaging|MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|A|T|23|39.0|Non-synonymous|Line Propagating
5220732|IGL01123|8|17534928|L->Q|0.68|Possibly damaging|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||A|T|23|35.0|Non-synonymous|Line Propagating
5220733|IGL01123|1|87986123|T->I|0.04|Benign|MGI:2443184|Usp40|ubiquitin specific peptidase 40 [Source:MGI Symbol;Acc:MGI:2443184]|Heterozygous||G|A|21|37.0|Non-synonymous|Line Propagating
5220734|IGL01123|12|103694006|S->P|||MGI:1915598|Serpina1f|serine (or cysteine) peptidase inhibitor, clade A, member 1F [Source:MGI Symbol;Acc:MGI:1915598]|Heterozygous||A|G|20|39.0|Non-synonymous|Line Propagating
5220735|IGL01123|15|98837148|M->V|||MGI:2682319|Mll2|myeloid/lymphoid or mixed-lineage leukemia 2 [Source:MGI Symbol;Acc:MGI:2682319]|Heterozygous||T|C|20|36.0|Non-synonymous|Line Propagating
5220736|IGL01123|X|72836833|D->N|0.02|Benign|MGI:1888498|Gabrq|gamma-aminobutyric acid (GABA) A receptor, subunit theta [Source:MGI Symbol;Acc:MGI:1888498]|Heterozygous|Males hemizygous for a mutation in this gene exhibit decreased prepulse inhibition.|G|A|20|37.0|Non-synonymous|Line Propagating
5220737|IGL01123|5|135391706|V->D|0.9|Possibly damaging|MGI:2137624|Pom121|nuclear pore membrane protein 121 [Source:MGI Symbol;Acc:MGI:2137624]|Heterozygous||A|T|19|37.0|Non-synonymous|Line Propagating
5220738|IGL01123|8|107039219|Disrupted splicing|||MGI:1890520|Vps4a|vacuolar protein sorting 4a (yeast) [Source:MGI Symbol;Acc:MGI:1890520]|Heterozygous||T|C|19|37.0|Splice|Line Propagating
5220739|IGL01123|11|22836490|T->S||Benign|MGI:1889505|B3gnt2|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:1889505]|Heterozygous|Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety.|T|A|18|36.5|Non-synonymous|Line Propagating
5220740|IGL01123|11|88941328|N->S|0.87|Possibly damaging|MGI:1921867|Scpep1|serine carboxypeptidase 1 [Source:MGI Symbol;Acc:MGI:1921867]|Heterozygous|Mice homozygous for a gene trapped allele exhibit no abnormal phenotype. Mice homozygous for a knock-out allele exhibit abnormal blood vessel healing.|T|C|17|35.0|Non-synonymous|Line Propagating
5220741|IGL01123|11|94570450|E->G||Benign|MGI:2388287|Acsf2|acyl-CoA synthetase family member 2 [Source:MGI Symbol;Acc:MGI:2388287]|Heterozygous||T|C|17|34.0|Non-synonymous|Line Propagating
5220742|IGL01123|17|9668147|S->T||Benign|MGI:1914793|Pabpc6|poly(A) binding protein, cytoplasmic 6 [Source:MGI Symbol;Acc:MGI:1914793]|Heterozygous||A|T|17|34.0|Non-synonymous|Line Propagating
5220743|IGL01123|10|28973938|D->E|1.0|Probably damaging|MGI:1914969|2310057j18rik|RIKEN cDNA 2310057J18 gene [Source:MGI Symbol;Acc:MGI:1914969]|Heterozygous||G|T|16|39.5|Non-synonymous|Line Propagating
5220744|IGL01123|2|19201805|P->L|0.99|Probably damaging|MGI:1918132|Armc3|armadillo repeat containing 3 [Source:MGI Symbol;Acc:MGI:1918132]|Heterozygous||C|T|16|40.0|Non-synonymous|Line Propagating
5220745|IGL01123|2|113834773|Disrupted splicing|||MGI:2444300|Arhgap11a|Rho GTPase activating protein 11A [Source:MGI Symbol;Acc:MGI:2444300]|Heterozygous||T|C|15|40.0|Splice|Line Propagating
5220746|IGL01123|4|57757627|Q->Stop|0.66|N/A|MGI:5141924|Gm20459|predicted gene 20459 [Source:MGI Symbol;Acc:MGI:5141924]|Heterozygous||C|T|15|40.0|Non-synonymous|Line Propagating
5220747|IGL01123|8|60526614|E->V|0.1|Benign|MGI:1345167|Aadat|aminoadipate aminotransferase [Source:MGI Symbol;Acc:MGI:1345167]|Heterozygous|Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities.|A|T|15|38.0|Non-synonymous|Line Propagating
5220748|IGL01123|10|5344921|Y->Stop||N/A|MGI:1927152|Syne1|Nesprin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q6ZWR6]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|G|T|13|37.0|Non-synonymous|Line Propagating
5220749|IGL01123|13|92492522|V->A|1.0|Probably damaging|MGI:2145181|Zfyve16|zinc finger, FYVE domain containing 16 [Source:MGI Symbol;Acc:MGI:2145181]|Heterozygous||A|G|13|39.0|Non-synonymous|Line Propagating
5220750|IGL01123|14|51994346|Q->K|0.9|Possibly damaging|MGI:2685515|Arhgef40|Rho guanine nucleotide exchange factor (GEF) 40 [Source:MGI Symbol;Acc:MGI:2685515]|Heterozygous||C|A|13|36.0|Non-synonymous|Line Propagating
5220751|IGL01123|6|34846976|Q->Stop||N/A|MGI:1923473|Agbl3|ATP/GTP binding protein-like 3 [Source:MGI Symbol;Acc:MGI:1923473]|Heterozygous||C|T|12|39.0|Non-synonymous|Line Propagating
5220752|IGL01123|10|107686218|F->Y|0.87|Possibly damaging|MGI:1096349|Ptprq|protein tyrosine phosphatase, receptor type, Q [Source:MGI Symbol;Acc:MGI:1096349]|Heterozygous|Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.|A|T|11|34.0|Non-synonymous|Line Propagating
5220753|IGL01123|4|130950011|I->T|0.57|Possibly damaging|MGI:106591|Matn1|matrilin 1, cartilage matrix protein [Source:MGI Symbol;Acc:MGI:106591]|Heterozygous|Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects.|T|C|11|35.0|Non-synonymous|Line Propagating
5220754|IGL01123|18|58104081|T->A|0.25|Benign|MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|T|C|10|37.5|Non-synonymous|Line Propagating
5221377|IGL01124|6|148777376|E->V|0.92|Possibly damaging|MGI:2444611|Ipo8|importin 8 [Source:MGI Symbol;Acc:MGI:2444611]|Heterozygous||T|A|82|37.0|Non-synonymous|Line Propagating
5221378|IGL01124|19|39093510|Disrupted splicing|||MGI:1919553|Cyp2c65|cytochrome P450, family 2, subfamily c, polypeptide 65 [Source:MGI Symbol;Acc:MGI:1919553]|Heterozygous||T|A|77|38.0|Splice|Line Propagating
5221379|IGL01124|15|8153679|M->K|0.98|Probably damaging|MGI:2181182|Nup155|nucleoporin 155 [Source:MGI Symbol;Acc:MGI:2181182]|Heterozygous|Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration.|T|A|74|37.0|Non-synonymous|Line Propagating
5221380|IGL01124|2|87783376|F->L|||MGI:1313139|Olfr152|olfactory receptor 152 [Source:MGI Symbol;Acc:MGI:1313139]|Heterozygous||T|C|71|38.0|Non-synonymous|Line Propagating
5221381|IGL01124|11|58502194|S->T|||MGI:3030165|Olfr331|olfactory receptor 331 [Source:MGI Symbol;Acc:MGI:3030165]|Heterozygous||A|T|62|37.0|Non-synonymous|Line Propagating
5221382|IGL01124|11|3526326|Disrupted splicing|||MGI:1354727|Smtn|smoothelin [Source:MGI Symbol;Acc:MGI:1354727]|Heterozygous|Mice homozygous for disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appear normal.|A|G|54|35.0|Splice|Line Propagating
5221383|IGL01124|7|13102929|I->V|||MGI:4438438|Vmn1r86|vomeronasal 1 receptor 86 [Source:MGI Symbol;Acc:MGI:4438438]|Heterozygous||T|C|54|38.0|Non-synonymous|Line Propagating
5221384|IGL01124|10|77945825|Disrupted splicing|||MGI:1351901|Trpm2|transient receptor potential cation channel, subfamily M, member 2 [Source:MGI Symbol;Acc:MGI:1351901]|Heterozygous|Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.|A|T|51|38.0|Splice|Line Propagating
5221385|IGL01124|2|13478093|Q->K|0.16|Benign|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|G|T|46|39.0|Non-synonymous|Line Propagating
5221386|IGL01124|17|12650862|Disrupted splicing|||MGI:108111|Slc22a1|solute carrier family 22 (organic cation transporter), member 1 [Source:MGI Symbol;Acc:MGI:108111]|Heterozygous|Mice homozygous for a targeted mutation are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations.|T|A|42|36.0|Splice|Line Propagating
5221387|IGL01124|4|120269152|T->A|0.74|Possibly damaging|MGI:2676586|Foxo6|forkhead box O6 [Source:MGI Symbol;Acc:MGI:2676586]|Heterozygous||T|C|40|37.5|Non-synonymous|Line Propagating
5221388|IGL01124|2|120914905|M->V||Benign|MGI:1277977|Ubr1|ubiquitin protein ligase E3 component n-recognin 1 [Source:MGI Symbol;Acc:MGI:1277977]|Heterozygous|Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.|T|C|37|39.0|Non-synonymous|Line Propagating
5221389|IGL01124|9|49037213|S->T|0.97|Probably damaging|MGI:2442293|Usp28|ubiquitin specific peptidase 28 [Source:MGI Symbol;Acc:MGI:2442293]|Heterozygous||T|A|36|35.0|Non-synonymous|Line Propagating
5221390|IGL01124|5|64816780|M->V|0.28|Benign|MGI:1342773|Klf3|Kruppel-like factor 3 (basic) [Source:MGI Symbol;Acc:MGI:1342773]|Heterozygous|Homozygous null mice display reduced viability and are visibly smaller than controls by the time of weaning. Homozygotes possess significantly less white adipose tissue and their fat pads contain smaller and fewer cells while mutant MEFs exhibit enhanced adipocyte differentiation.|A|G|35|37.0|Non-synonymous|Line Propagating
5221391|IGL01124|17|48249801|L->R|1.0|Probably damaging|MGI:1930003|Trem3|triggering receptor expressed on myeloid cells 3 [Source:MGI Symbol;Acc:MGI:1930003]|Heterozygous||T|G|34|35.0|Non-synonymous|Line Propagating
5221392|IGL01124|6|123139078|A->V||Unknown|MGI:1349412|Clec4a2|C-type lectin domain family 4, member a2 [Source:MGI Symbol;Acc:MGI:1349412]|Heterozygous||C|T|34|35.0|Non-synonymous|Line Propagating
5221393|IGL01124|6|21217217|S->P|1.0|Probably damaging|MGI:102663|Kcnd2|potassium voltage-gated channel, Shal-related family, member 2 [Source:MGI Symbol;Acc:MGI:102663]|Heterozygous|Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli.|T|C|33|37.0|Non-synonymous|Line Propagating
5221394|IGL01124|17|12255200|F->S||Unknown|MGI:1346875|Map3k4|mitogen-activated protein kinase kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1346875]|Heterozygous|Homozygous null mice exhibit some perinatal lethality and survivors appear smaller. On certain genetic backgrounds, heterozygous X/Y mice may develop as phenotypic females or hermaphrodites. The sex-reversal phenotype is dependent on a combination of strain-specific autosomal and Y-linked alleles.|T|C|29|38.0|Non-synonymous|Line Propagating
5221395|IGL01124|5|14714329|I->T|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|T|C|29|39.0|Non-synonymous|Line Propagating
5221396|IGL01124|16|32768730|V->I||Unknown|MGI:2153525|Muc4|mucin 4 [Source:MGI Symbol;Acc:MGI:2153525]|Heterozygous||G|A|27|39.0|Non-synonymous|Line Propagating
5221397|IGL01124|7|4497345|Disrupted splicing|||MGI:1924258|Ppp1r12c|protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:MGI Symbol;Acc:MGI:1924258]|Heterozygous||A|G|26|37.0|Splice|Line Propagating
5221398|IGL01124|9|79703847|S->P|1.0|Probably damaging|MGI:88448|Col12a1|collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]|Heterozygous||A|G|25|38.0|Non-synonymous|Line Propagating
5221399|IGL01124|10|81324350|S->P|0.9|Possibly damaging|MGI:1917562|Cactin|cactin, spliceosome C complex subunit [Source:MGI Symbol;Acc:MGI:1917562]|Heterozygous||T|C|23|37.0|Non-synonymous|Line Propagating
5221400|IGL01124|14|74757063|D->E|0.17|Benign|MGI:2443390|Lrch1|leucine-rich repeats and calponin homology (CH) domain containing 1 [Source:MGI Symbol;Acc:MGI:2443390]|Heterozygous||A|T|23|39.0|Non-synonymous|Line Propagating
5221401|IGL01124|3|90269074|T->S|1.0|Probably damaging|MGI:2446201|Dennd4b|DENN/MADD domain containing 4B [Source:MGI Symbol;Acc:MGI:2446201]|Heterozygous||A|T|22|35.0|Non-synonymous|Line Propagating
5221402|IGL01124|10|60131387|D->G||Unknown|MGI:1891351|Spock2|sparc/osteonectin, cwcv and kazal-like domains proteoglycan 2 [Source:MGI Symbol;Acc:MGI:1891351]|Heterozygous||A|G|21|35.0|Non-synonymous|Line Propagating
5221403|IGL01124|13|27159107|R->Q|||MGI:2660938|Prl3d3|prolactin family 3, subfamily d, member 3 [Source:MGI Symbol;Acc:MGI:2660938]|Heterozygous||G|A|21|39.0|Non-synonymous|Line Propagating
5221404|IGL01124|2|67508615|L->P|1.0|Probably damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
5221405|IGL01124|15|95296179|T->M|1.0|Probably damaging|MGI:1858510|Nell2|NEL-like 2 [Source:MGI Symbol;Acc:MGI:1858510]|Heterozygous|Homozygous null mice display enhanced long term potentiation in the dentate gyrus of the hippocampus.|G|A|19|36.0|Non-synonymous|Line Propagating
5221406|IGL01124|4|108588787|Disrupted splicing|||MGI:1328337|Orc1|origin recognition complex, subunit 1 [Source:MGI Symbol;Acc:MGI:1328337]|Heterozygous||T|C|19|40.0|Splice|Line Propagating
5221407|IGL01124|10|50732473|I->T|0.95|Possibly damaging|MGI:1925237|Ascc3|activating signal cointegrator 1 complex subunit 3 [Source:MGI Symbol;Acc:MGI:1925237]|Heterozygous||T|C|18|39.5|Non-synonymous|Line Propagating
5221408|IGL01124|4|136936083|G->D|1.0|Probably damaging|MGI:109378|Epha8|Eph receptor A8 [Source:MGI Symbol;Acc:MGI:109378]|Heterozygous|Mice homozygous for this targeted mutation are viable, fertile, and grossly normal but exhibit a commissural defect, whereby tectal axons fail to project from the superior colliculus of the midbrain to the contralateral inferior colliculus and instead project to the ipsilateral cervical spinal cord.|C|T|18|35.0|Non-synonymous|Line Propagating
5221409|IGL01124|4|49490391|I->T|0.73|Possibly damaging|MGI:106642|Baat|bile acid-Coenzyme A: amino acid N-acyltransferase [Source:MGI Symbol;Acc:MGI:106642]|Heterozygous||A|G|17|37.0|Non-synonymous|Line Propagating
5221410|IGL01124|7|92910208|E->G||Benign|MGI:1919711|Prcp|prolylcarboxypeptidase (angiotensinase C) [Source:MGI Symbol;Acc:MGI:1919711]|Heterozygous|Mice homozygous for a gene trap allele exhibit decreased body length, weight, and fat pads with resistance to diet-induced obesity.|A|G|17|39.0|Non-synonymous|Line Propagating
5221411|IGL01124|1|140183261|F->I||Unknown|MGI:88385|Cfh|complement component factor h [Source:MGI Symbol;Acc:MGI:88385]|Heterozygous|Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.|A|T|16|38.5|Non-synonymous|Line Propagating
5221412|IGL01124|1|171896443|Y->C||Unknown|MGI:3642358|Gm10521|predicted gene 10521 [Source:MGI Symbol;Acc:MGI:3642358]|Heterozygous||A|G|16|39.5|Non-synonymous|Line Propagating
5221413|IGL01124|14|30970262|N->D||Benign|MGI:1344404|Nek4|NIMA (never in mitosis gene a)-related expressed kinase 4 [Source:MGI Symbol;Acc:MGI:1344404]|Heterozygous||A|G|12|39.5|Non-synonymous|Line Propagating
5221414|IGL01124|4|59886404|Disrupted splicing|||MGI:2443882|Snx30|sorting nexin family member 30 [Source:MGI Symbol;Acc:MGI:2443882]|Heterozygous||T|C|12|38.5|Splice|Line Propagating
5221415|IGL01124|7|74284547|Y->H|1.0|Probably damaging|MGI:1351867|Slco3a1|solute carrier organic anion transporter family, member 3a1 [Source:MGI Symbol;Acc:MGI:1351867]|Heterozygous||A|G|11|35.0|Non-synonymous|Line Propagating
5221416|IGL01124|1|162958261|R->C|1.0|Probably damaging|MGI:1100496|Fmo3|flavin containing monooxygenase 3 [Source:MGI Symbol;Acc:MGI:1100496]|Heterozygous||G|A|10|40.0|Non-synonymous|Line Propagating
5221417|IGL01124|13|27316364|M->K|0.37|Benign|MGI:1206579|Prl6a1|prolactin family 6, subfamily a, member 1 [Source:MGI Symbol;Acc:MGI:1206579]|Heterozygous||T|A|10|37.5|Non-synonymous|Line Propagating
5221418|IGL01124|14|34544200|E->D|0.18|Benign|MGI:1344412|Ldb3|LIM domain binding 3 [Source:MGI Symbol;Acc:MGI:1344412]|Heterozygous|Homozygous mutation of this gene results in lethality within a few days after birth from muscle abnormalities. Mutant mice exhibit myopathy, dysphagia, heart vascular congestion, dilated heart ventricles, cyanosis, and respiratory distress.|T|A|10|36.5|Non-synonymous|Line Propagating
5221419|IGL01124|X|8986588|E->G|0.29|Benign|MGI:3713070|Gm14458|predicted gene 14458 [Source:MGI Symbol;Acc:MGI:3713070]|Heterozygous||T|C|10|35.5|Non-synonymous|Line Propagating
5222020|IGL01125|15|63861457|D->V||Benign|MGI:3580656|Gsdmc3|gasdermin C3 [Source:MGI Symbol;Acc:MGI:3580656]|Heterozygous||T|A|102|35.0|Non-synonymous|Line Propagating
5222021|IGL01125|11|33633202|D->E|1.0|Probably damaging|MGI:1917607|Kcnip1|Kv channel-interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917607]|Heterozygous||A|T|97|39.0|Non-synonymous|Line Propagating
5222022|IGL01125|9|45749632|Disrupted splicing|||MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|G|T|90|37.0|Splice|Line Propagating
5222023|IGL01125|7|105069601|I->F||Benign|MGI:3030512|Olfr678|olfactory receptor 678 [Source:MGI Symbol;Acc:MGI:3030512]|Heterozygous||A|T|72|39.0|Non-synonymous|Line Propagating
5222024|IGL01125|1|193184464|Disrupted splicing|||MGI:2441706|Traf3ip3|TRAF3 interacting protein 3 [Source:MGI Symbol;Acc:MGI:2441706]|Heterozygous||T|C|71|36.0|Splice|Line Propagating
5222025|IGL01125|6|77244453|R->C|1.0|Probably damaging|MGI:2389173, MGI:88275|Ctnna2,lrrtm1|leucine rich repeat transmembrane neuronal 1 [Source:MGI Symbol;Acc:MGI:2389173],catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with grossly normal brain morphology. Mice homozygous for another knock-out allele exhibit impaired cognitive function and altered hippocampal synapse morphology.,Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|C|T|58|36.0|Non-synonymous|Line Propagating
5222026|IGL01125|19|50228201|T->A|||MGI:1929666|Sorcs1|VPS10 domain receptor protein SORCS 1 [Source:MGI Symbol;Acc:MGI:1929666]|Heterozygous|Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.|T|C|57|37.0|Non-synonymous|Line Propagating
5222027|IGL01125|11|77977289|Disrupted splicing|||MGI:104745|Sez6|seizure related gene 6 [Source:MGI Symbol;Acc:MGI:104745]|Heterozygous|Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination.|T|C|54|36.5|Splice|Line Propagating
5222028|IGL01125|X|124132807|I->F|0.97|Probably damaging|MGI:3643045|Vmn2r121|vomeronasal 2, receptor 121 [Source:MGI Symbol;Acc:MGI:3643045]|Heterozygous||T|A|52|35.5|Non-synonymous|Line Propagating
5222029|IGL01125|2|156303184|Disrupted splicing|||MGI:2444148|Phf20|PHD finger protein 20 [Source:MGI Symbol;Acc:MGI:2444148]|Heterozygous||G|A|49|37.0|Splice|Line Propagating
5222030|IGL01125|X|160492708|T->I|1.0|Probably damaging|MGI:2446854|Gpr64|G protein-coupled receptor 64 [Source:MGI Symbol;Acc:MGI:2446854]|Heterozygous|Hemizygous null male mice display reduced fertility, oligozoospermia, teratozoospermia, asthenozoospermia, abnormal epididymis morphology, and abnormal fluid accumulation resulting in enlarged testes and dilated seminiferous tubules.|C|T|49|37.0|Non-synonymous|Line Propagating
5222031|IGL01125|1|24224645|Disrupted splicing|||MGI:88465|Col9a1|collagen, type IX, alpha 1 [Source:MGI Symbol;Acc:MGI:88465]|Heterozygous|Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone.|A|G|43|37.0|Splice|Line Propagating
5222032|IGL01125|3|126798285|Disrupted splicing|||MGI:1341265|Camk2d|calcium/calmodulin-dependent protein kinase II, delta [Source:MGI Symbol;Acc:MGI:1341265]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress.|A|G|40|37.0|Splice|Line Propagating
5222033|IGL01125|7|106082814|N->K|||MGI:3608893, MGI:2680361, MGI:5434048, MGI:5313110, MGI:4438566, MGI:3589937|Ac165356.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QPZ6]|Heterozygous||A|T|38|40.0|Non-synonymous|Line Propagating
5222034|IGL01125|17|12271962|S->L|1.0|Probably damaging|MGI:1346875|Map3k4|mitogen-activated protein kinase kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1346875]|Heterozygous|Homozygous null mice exhibit some perinatal lethality and survivors appear smaller. On certain genetic backgrounds, heterozygous X/Y mice may develop as phenotypic females or hermaphrodites. The sex-reversal phenotype is dependent on a combination of strain-specific autosomal and Y-linked alleles.|G|A|35|35.0|Non-synonymous|Line Propagating
5222035|IGL01125|X|9446744|N->I|0.28|Benign|MGI:88574|Cybb|cytochrome b-245, beta polypeptide [Source:MGI Symbol;Acc:MGI:88574]|Heterozygous||T|A|34|37.0|Non-synonymous|Line Propagating
5222036|IGL01125|10|19597413|Disrupted splicing|||MGI:107655|Ifngr1|interferon gamma receptor 1 [Source:MGI Symbol;Acc:MGI:107655]|Heterozygous|Mice homozygous for a mutant allele exhibit increased susceptibility to viral infection and experimental autoimmune uveoretinitis.|C|T|31|40.0|Splice|Line Propagating
5222037|IGL01125|13|55245617|S->P|1.0|Probably damaging|MGI:1276545|Nsd1|nuclear receptor-binding SET-domain protein 1 [Source:MGI Symbol;Acc:MGI:1276545]|Heterozygous|Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10.|T|C|30|39.0|Non-synonymous|Line Propagating
5222038|IGL01125|2|101642001|I->T|0.88|Possibly damaging|MGI:97848|Rag1|recombination activating gene 1 [Source:MGI Symbol;Acc:MGI:97848]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination.|A|G|28|33.5|Non-synonymous|Line Propagating
5222039|IGL01125|2|71089805|V->A|0.09|Benign|MGI:1923013|Dcaf17|DDB1 and CUL4 associated factor 17 [Source:MGI Symbol;Acc:MGI:1923013]|Heterozygous||T|C|27|39.0|Non-synonymous|Line Propagating
5222040|IGL01125|6|48492888|C->S|1.0|Probably damaging|MGI:2674311|Sspo|SCO-spondin [Source:MGI Symbol;Acc:MGI:2674311]|Heterozygous||T|A|27|35.0|Non-synonymous|Line Propagating
5222041|IGL01125|4|18112066|K->E|0.02|Benign|MGI:1276107|Mmp16|matrix metallopeptidase 16 [Source:MGI Symbol;Acc:MGI:1276107]|Heterozygous|Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a null allele exhibit reduced skeletal growth.|A|G|24|39.5|Non-synonymous|Line Propagating
5222042|IGL01125|5|41635894|M->T||Benign|MGI:1917285|Rab28|RAB28, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1917285]|Heterozygous||A|G|24|40.5|Non-synonymous|Line Propagating
5222043|IGL01125|5|108444592|Disrupted splicing|||MGI:2442629|Mfsd7a|major facilitator superfamily domain containing 7A [Source:MGI Symbol;Acc:MGI:2442629]|Heterozygous||A|G|24|38.5|Splice|Line Propagating
5222044|IGL01125|14|31667776|F->I||Benign|MGI:1347001|Btd|biotinidase [Source:MGI Symbol;Acc:MGI:1347001]|Heterozygous|Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet.|T|A|23|37.0|Non-synonymous|Line Propagating
5222045|IGL01125|7|42260126|Y->C|||MGI:1351347|Vmn2r61|vomeronasal 2, receptor 61 [Source:MGI Symbol;Acc:MGI:1351347]|Heterozygous||A|G|22|39.5|Non-synonymous|Line Propagating
5222046|IGL01125|4|152046609|C->F|0.48|Possibly damaging|MGI:1921285|Nol9|nucleolar protein 9 [Source:MGI Symbol;Acc:MGI:1921285]|Heterozygous||G|T|21|35.0|Non-synonymous|Line Propagating
5222047|IGL01125|15|102322938|F->S|0.15|Benign|MGI:2146156|Espl1|extra spindle poles-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146156]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation. Conditional null mice display abnormal mitosis during liver regeneration.|T|C|18|37.5|Non-synonymous|Line Propagating
5222048|IGL01125|2|73910949|Disrupted splicing|||MGI:2442035|Atp5g3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9) [Source:MGI Symbol;Acc:MGI:2442035]|Heterozygous||A|G|18|34.0|Splice|Line Propagating
5222049|IGL01125|11|102054221|Disrupted splicing|||MGI:1289168|Cd300lg|CD300 antigen like family member G [Source:MGI Symbol;Acc:MGI:1289168]|Heterozygous||A|T|17|38.0|Splice|Line Propagating
5222050|IGL01125|14|70218252|H->Q|0.76|Possibly damaging|MGI:107162|Ppp3cc|protein phosphatase 3, catalytic subunit, gamma isoform [Source:MGI Symbol;Acc:MGI:107162]|Heterozygous||G|T|12|40.0|Non-synonymous|Line Propagating
5222051|IGL01125|11|67220660|M->L||Benign|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|A|T|10|36.0|Non-synonymous|Line Propagating
5222679|IGL01126|1|88055987|A->E|0.01|Benign|MGI:3580642|Ugt1a10|UDP glycosyltransferase 1 family, polypeptide A10 [Source:MGI Symbol;Acc:MGI:3580642]|Heterozygous||C|A|78|37.0|Non-synonymous|Alive, Line Propagating
5222681|IGL01126|17|32397405|T->A|0.39|Benign|MGI:2444128|Rasal3|RAS protein activator like 3 [Source:MGI Symbol;Acc:MGI:2444128]|Heterozygous||T|C|59|37.0|Non-synonymous|Alive, Line Propagating
5222682|IGL01126|8|85946101|M->T|0.02|Benign|MGI:97578|Phkb|phosphorylase kinase beta [Source:MGI Symbol;Acc:MGI:97578]|Heterozygous||T|C|57|39.0|Non-synonymous|Alive, Line Propagating
5222683|IGL01126|2|76707246|H->Q||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|T|43|38.0|Non-synonymous|Alive, Line Propagating
5222684|IGL01126|1|127824331|K->Stop||N/A|MGI:1203481|Ysk4|Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1203481]|Heterozygous||T|A|36|36.0|Non-synonymous|Alive, Line Propagating
5222685|IGL01126|4|129634365|Disrupted splicing|||MGI:105968|Txlna|taxilin alpha [Source:MGI Symbol;Acc:MGI:105968]|Heterozygous||A|G|29|37.0|Splice|Alive, Line Propagating
5222686|IGL01126|8|70251874|L->P|1.0|Probably damaging|MGI:2678085|Sugp2|SURP and G patch domain containing 2 [Source:MGI Symbol;Acc:MGI:2678085]|Heterozygous||T|C|29|37.0|Non-synonymous|Alive, Line Propagating
5222687|IGL01126|14|70463357|S->G|0.04|Benign|MGI:1860417|Phyhip|phytanoyl-CoA hydroxylase interacting protein [Source:MGI Symbol;Acc:MGI:1860417]|Heterozygous||A|G|27|39.0|Non-synonymous|Alive, Line Propagating
5222688|IGL01126|19|7674283|N->D|0.85|Possibly damaging|MGI:2442751|Slc22a19|solute carrier family 22 (organic anion transporter), member 19 [Source:MGI Symbol;Acc:MGI:2442751]|Heterozygous||T|C|27|37.0|Non-synonymous|Alive, Line Propagating
5222690|IGL01126|4|98973552|Disrupted splicing|||MGI:1914549|Dock7|dedicator of cytokinesis 7 [Source:MGI Symbol;Acc:MGI:1914549]|Heterozygous|Mice homozygous for mutations of this gene exhibit coat color dilution, white tail tip, and on some genetic backgrounds a white belly spot.|A|G|22|36.0|Splice|Alive, Line Propagating
5222691|IGL01126|1|167364574|T->I|0.1|Benign|MGI:1861622|Aldh9a1|aldehyde dehydrogenase 9, subfamily A1 [Source:MGI Symbol;Acc:MGI:1861622]|Heterozygous||C|T|21|38.0|Non-synonymous|Alive, Line Propagating
5222692|IGL01126|13|50423300|E->G|0.98|Probably damaging|MGI:1923584|Fbxw17|F-box and WD-40 domain protein 17 [Source:MGI Symbol;Acc:MGI:1923584]|Heterozygous||A|G|16|35.0|Non-synonymous|Alive, Line Propagating
5222693|IGL01126|15|28302399|F->V|0.21|Benign|MGI:107718|Dnahc5|dynein, axonemal, heavy chain 5 [Source:MGI Symbol;Acc:MGI:107718]|Heterozygous|Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.|T|G|16|39.0|Non-synonymous|Alive, Line Propagating
5222695|IGL01126|16|38407639|D->G||Benign|MGI:1934677|Pla1a|phospholipase A1 member A [Source:MGI Symbol;Acc:MGI:1934677]|Heterozygous||T|C|14|38.0|Non-synonymous|Alive, Line Propagating
5222696|IGL01126|16|15669321|V->D||Benign|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|A|13|39.0|Non-synonymous|Alive, Line Propagating
5222697|IGL01126|9|7116588|I->V||Benign|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|T|C|13|39.0|Non-synonymous|Alive, Line Propagating
5222698|IGL01126|4|139402555|M->K||Unknown|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||T|A|10|39.0|Non-synonymous|Alive, Line Propagating
5223956|IGL01128|19|13619746|E->K|1.0|Probably damaging|MGI:3031321|Olfr1487|olfactory receptor 1487 [Source:MGI Symbol;Acc:MGI:3031321]|Heterozygous||G|A|163|39.0|Non-synonymous|Line Propagating
5223957|IGL01128|14|50533949|D->G|||MGI:3030577|Olfr743|olfactory receptor 743 [Source:MGI Symbol;Acc:MGI:3030577]|Heterozygous||A|G|119|36.0|Non-synonymous|Line Propagating
5223958|IGL01128|3|138133997|Disrupted splicing|||MGI:106926|Mttp|microsomal triglyceride transfer protein [Source:MGI Symbol;Acc:MGI:106926]|Heterozygous|Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles.|T|A|99|39.0|Splice|Line Propagating
5223959|IGL01128|1|54428876|F->V|0.28|Benign|MGI:2138383|Gtf3c3|general transcription factor IIIC, polypeptide 3 [Source:MGI Symbol;Acc:MGI:2138383]|Heterozygous||A|C|88|39.0|Non-synonymous|Line Propagating
5223960|IGL01128|10|52142328|Q->Stop||N/A|MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|G|A|75|38.0|Non-synonymous|Line Propagating
5223961|IGL01128|12|64980876|T->A|||MGI:2684313|Fam179b|family with sequence similarity 179, member B [Source:MGI Symbol;Acc:MGI:2684313]|Heterozygous||A|G|64|39.0|Non-synonymous|Line Propagating
5223962|IGL01128|15|81630006|K->E||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|A|G|61|39.0|Non-synonymous|Line Propagating
5223963|IGL01128|1|59969018|F->Y|0.99|Probably damaging|MGI:1920000|Fam117b|family with sequence similarity 117, member B [Source:MGI Symbol;Acc:MGI:1920000]|Heterozygous||T|A|56|35.0|Non-synonymous|Line Propagating
5223964|IGL01128|1|22534175|V->D||Unknown|MGI:2152971|Rims1|regulating synaptic membrane exocytosis 1 [Source:MGI Symbol;Acc:MGI:2152971]|Heterozygous|Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.|A|T|55|34.0|Non-synonymous|Line Propagating
5223965|IGL01128|2|181570337|E->G|1.0|Probably damaging|MGI:1915806|Uckl1|uridine-cytidine kinase 1-like 1 [Source:MGI Symbol;Acc:MGI:1915806]|Heterozygous||T|C|46|36.0|Non-synonymous|Line Propagating
5223966|IGL01128|5|14232115|P->S|1.0|Probably damaging|MGI:1340034|Sema3e|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E [Source:MGI Symbol;Acc:MGI:1340034]|Heterozygous|Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc.|C|T|46|37.0|Non-synonymous|Line Propagating
5223967|IGL01128|10|80549739|D->G|0.99|Probably damaging|MGI:1914182|Rexo1|REX1, RNA exonuclease 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914182]|Heterozygous||T|C|42|37.0|Non-synonymous|Line Propagating
5223968|IGL01128|10|81530884|A->S|1.0|Probably damaging|MGI:95766|Gna11|guanine nucleotide binding protein, alpha 11 [Source:MGI Symbol;Acc:MGI:95766]|Heterozygous|Mice deficient for this gene do not exhibit any detectable abnormalities.|C|A|41|35.0|Non-synonymous|Line Propagating
5223969|IGL01128|17|51805289|V->A|1.0|Probably damaging|MGI:105084|Satb1|special AT-rich sequence binding protein 1 [Source:MGI Symbol;Acc:MGI:105084]|Heterozygous|Homozygous mice for a targeted null mutation exhibit reduced size of the lymphoid organs, abnormalities in T cell development, general growth retardation and die by 3-4 weeks of age.|A|G|38|36.5|Non-synonymous|Line Propagating
5223971|IGL01128|1|36644354|V->E|0.48|Possibly damaging|MGI:3026913|Fam178b|family with sequence similarity 178, member B [Source:MGI Symbol;Acc:MGI:3026913]|Heterozygous||A|T|33|35.0|Non-synonymous|Line Propagating
5223972|IGL01128|X|101320092|T->S|0.02|Benign|MGI:2444609|Nlgn3|neuroligin 3 [Source:MGI Symbol;Acc:MGI:2444609]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired context and cued conditioning, hyperactivity, abnormal social investigation, abnormal vocalization, decreased brain size, and impaired olfaction.|A|T|33|36.0|Non-synonymous|Line Propagating
5223974|IGL01128|17|67042101|C->S|1.0|Probably damaging|MGI:102694|Ptprm|protein tyrosine phosphatase, receptor type, M [Source:MGI Symbol;Acc:MGI:102694]|Heterozygous||A|T|30|36.5|Non-synonymous|Line Propagating
5223975|IGL01128|2|26951471|W->L|0.09|Benign|MGI:2685557|Gm711|predicted gene 711 [Source:MGI Symbol;Acc:MGI:2685557]|Heterozygous||G|T|30|37.5|Non-synonymous|Line Propagating
5223976|IGL01128|5|108592370|M->L|0.14|Benign|MGI:2442153|Gak|cyclin G associated kinase [Source:MGI Symbol;Acc:MGI:2442153]|Heterozygous||T|A|29|40.0|Non-synonymous|Line Propagating
5223977|IGL01128|17|12396699|Disrupted splicing|||MGI:97620|Plg|plasminogen [Source:MGI Symbol;Acc:MGI:97620]|Heterozygous|Homozygous null mutants exhibit retarded growth, variable rectal prolapse, impaired fertility and lactation in females, early mortality, and widespread fibrin deposition and thrombotic lesions in liver, lung, stomach and other tissues.|A|T|21|39.0|Splice|Line Propagating
5223978|IGL01128|18|34417015|Y->N|1.0|Probably damaging|MGI:1858231|Pkd2l2|polycystic kidney disease 2-like 2 [Source:MGI Symbol;Acc:MGI:1858231]|Heterozygous|Mice homozygous for a targeted gene disruption display hyperactivity.|T|A|21|37.0|Non-synonymous|Line Propagating
5223979|IGL01128|7|30190133|I->V||Benign|MGI:88266|Capns1|calpain, small subunit 1 [Source:MGI Symbol;Acc:MGI:88266]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrahging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver.|T|C|21|38.0|Non-synonymous|Line Propagating
5223980|IGL01128|9|71724561|Q->K|0.43|Benign|MGI:1915428|Cgnl1|cingulin-like 1 [Source:MGI Symbol;Acc:MGI:1915428]|Heterozygous||G|T|21|37.0|Non-synonymous|Line Propagating
5223981|IGL01128|14|21660860|R->H||Benign|MGI:1858746|Myst4|MYST histone acetyltransferase monocytic leukemia 4 [Source:MGI Symbol;Acc:MGI:1858746]|Heterozygous|Reduced expression of this gene results in developmental defects of the skeleton and brain, particularly the cerebral cortex.|G|A|20|34.0|Non-synonymous|Line Propagating
5223982|IGL01128|10|45353848|F->L|0.58|Possibly damaging|MGI:1346013|Bves|blood vessel epicardial substance [Source:MGI Symbol;Acc:MGI:1346013]|Heterozygous|Homozygous mutation of this gene results in delayed muscle regeneration following induced injury.|T|A|17|37.0|Non-synonymous|Line Propagating
5223983|IGL01128|10|21074433|T->A||Benign|MGI:87971|Ahi1|Abelson helper integration site 1 [Source:MGI Symbol;Acc:MGI:87971]|Heterozygous|Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology.|A|G|16|31.0|Non-synonymous|Line Propagating
5223985|IGL01128|16|20161968|Disrupted splicing|||MGI:2447762|Yeats2|YEATS domain containing 2 [Source:MGI Symbol;Acc:MGI:2447762]|Heterozygous||T|A|13|36.0|Splice|Line Propagating
5223987|IGL01128|5|134559480|D->G|0.96|Probably damaging|MGI:2684898|Syna|syncytin a [Source:MGI Symbol;Acc:MGI:2684898]|Heterozygous||T|C|12|37.5|Non-synonymous|Line Propagating
5223988|IGL01128|6|124909417|D->G|1.0|Probably damaging|MGI:106588|Lag3|lymphocyte-activation gene 3 [Source:MGI Symbol;Acc:MGI:106588]|Heterozygous|Mice homozygous for disruptions in this gene have a generally normal phenotype but do display reduced natural killer cell activity and increased T cell response to infection.|T|C|12|40.0|Non-synonymous|Line Propagating
5224606|IGL01129|5|146098279|M->V||Benign|MGI:3769707|Cyp3a59|cytochrome P450, subfamily 3A, polypeptide 59 [Source:MGI Symbol;Acc:MGI:3769707]|Heterozygous||A|G|93|39.0|Non-synonymous|Line Propagating
5224607|IGL01129|X|67920604|F->L|0.66|Possibly damaging|MGI:1914030|4933436i01rik|RIKEN cDNA 4933436I01 gene [Source:MGI Symbol;Acc:MGI:1914030]|Heterozygous||A|T|78|39.0|Non-synonymous|Line Propagating
5224609|IGL01129|6|57390497|F->Y|0.67|Possibly damaging|MGI:2159462|Vmn1r18|vomeronasal 1 receptor 18 [Source:MGI Symbol;Acc:MGI:2159462]|Heterozygous||A|T|53|38.0|Non-synonymous|Line Propagating
5224610|IGL01129|8|22169758|G->D|0.16|Benign|MGI:1931797|Ckap2|cytoskeleton associated protein 2 [Source:MGI Symbol;Acc:MGI:1931797]|Heterozygous||C|T|45|40.0|Non-synonymous|Line Propagating
5224611|IGL01129|5|67342143|G->C|1.0|Probably damaging|MGI:1923690|Slc30a9|solute carrier family 30 (zinc transporter), member 9 [Source:MGI Symbol;Acc:MGI:1923690]|Heterozygous||G|T|42|39.0|Non-synonymous|Line Propagating
5224612|IGL01129|5|76149746|Disrupted splicing|||MGI:1930252|Srd5a3|steroid 5 alpha-reductase 3 [Source:MGI Symbol;Acc:MGI:1930252]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects.|A|G|42|35.0|Splice|Line Propagating
5224613|IGL01129|2|148690996|P->Q|0.71|Possibly damaging|MGI:1921783|Gzf1|GDNF-inducible zinc finger protein 1 [Source:MGI Symbol;Acc:MGI:1921783]|Heterozygous||C|A|39|40.0|Non-synonymous|Line Propagating
5224614|IGL01129|7|12153238|T->S|||MGI:2159646|Vmn1r78|vomeronasal 1 receptor 78 [Source:MGI Symbol;Acc:MGI:2159646]|Heterozygous||A|T|39|39.0|Non-synonymous|Line Propagating
5224615|IGL01129|16|32994965|D->E|0.01|Benign|MGI:1917394|Lrch3|leucine-rich repeats and calponin homology (CH) domain containing 3 [Source:MGI Symbol;Acc:MGI:1917394]|Heterozygous||T|A|34|36.5|Non-synonymous|Line Propagating
5224616|IGL01129|3|26913184|Disrupted splicing|||MGI:1918112|Spata16|spermatogenesis associated 16 [Source:MGI Symbol;Acc:MGI:1918112]|Heterozygous||C|T|31|36.0|Splice|Line Propagating
5224617|IGL01129|18|67237444|G->Stop||N/A|MGI:2661311|Mppe1|metallophosphoesterase 1 [Source:MGI Symbol;Acc:MGI:2661311]|Heterozygous||C|A|30|39.0|Non-synonymous|Line Propagating
5224618|IGL01129|7|24640593|M->V|0.01|Benign|MGI:1919684|Lypd3|Ly6/Plaur domain containing 3 [Source:MGI Symbol;Acc:MGI:1919684]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
5224619|IGL01129|7|106956427|N->D|0.94|Possibly damaging|MGI:104713|Olfr6|olfactory receptor 6 [Source:MGI Symbol;Acc:MGI:104713]|Heterozygous||T|C|27|38.0|Non-synonymous|Line Propagating
5224620|IGL01129|1|69896522|S->C|0.81|Possibly damaging|MGI:1913972|Spag16|sperm associated antigen 16 [Source:MGI Symbol;Acc:MGI:1913972]|Heterozygous|Chimeric males carrying one copy of the mutated allele have impaired spermatogenesis, a significant loss of germ cells at the round spermatid stage, and disorganized sperm axoneme structure. No offspring carrying the mutated allele are produced from matings using male chimeras.|A|T|26|38.0|Non-synonymous|Line Propagating
5224621|IGL01129|6|37353634|Disrupted splicing|||MGI:2442695|Creb3l2|cAMP responsive element binding protein 3-like 2 [Source:MGI Symbol;Acc:MGI:2442695]|Heterozygous|Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation.|A|T|22|37.0|Splice|Line Propagating
5224622|IGL01129|6|92158416|D->E|0.02|Benign|MGI:1352466|Nr2c2|nuclear receptor subfamily 2, group C, member 2 [Source:MGI Symbol;Acc:MGI:1352466]|Heterozygous|Homozygous null mice display reduced body size, reduced male fertility, and impaired spermatogenesis.|T|A|22|38.0|Non-synonymous|Line Propagating
5224623|IGL01129|16|97408430|N->K|0.02|Benign|MGI:1860440|Bace2|beta-site APP-cleaving enzyme 2 [Source:MGI Symbol;Acc:MGI:1860440]|Heterozygous|Homozygous mutation of this gene results in impaired APP processing by neurons and glia.|T|G|18|40.0|Non-synonymous|Line Propagating
5224624|IGL01129|3|114185873|Disrupted splicing|||MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|T|C|16|37.0|Splice|Line Propagating
5224625|IGL01129|14|75335999|D->N|0.99|Probably damaging|MGI:1914552|Zc3h13|zinc finger CCCH type containing 13 [Source:MGI Symbol;Acc:MGI:1914552]|Heterozygous||G|A|14|37.5|Non-synonymous|Line Propagating
5224626|IGL01129|2|35183386|Disrupted splicing|||MGI:1915615|Rab14|RAB14, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1915615]|Heterozygous||T|C|14|37.0|Splice|Line Propagating
5224628|IGL01129|7|127521651|V->A|0.79|Possibly damaging|MGI:2444036|Srcap|Snf2-related CREBBP activator protein [Source:MGI Symbol;Acc:MGI:2444036]|Heterozygous||T|C|13|38.0|Non-synonymous|Line Propagating
5224629|IGL01129|11|88183254|S->T||Benign|MGI:2144281|Cuedc1|CUE domain containing 1 [Source:MGI Symbol;Acc:MGI:2144281]|Heterozygous||T|A|12|34.5|Non-synonymous|Line Propagating
5224630|IGL01129|12|4775505|V->E|1.0|Probably damaging|MGI:1920121|Pfn4|profilin family, member 4 [Source:MGI Symbol;Acc:MGI:1920121]|Heterozygous||T|A|12|34.0|Non-synonymous|Line Propagating
5224631|IGL01129|5|136304718|Disrupted splicing|||MGI:88568|Cux1|cut-like homeobox 1 [Source:MGI Symbol;Acc:MGI:88568]|Heterozygous|Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.|G|A|10|37.0|Splice|Line Propagating
5225216|IGL01130|11|17946358|D->E|0.51|Possibly damaging|MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||A|T|147|37.0|Non-synonymous|Alive
5225217|IGL01130|4|61518962|I->F||Benign|MGI:3780250|Mup16|major urinary protein 16 [Source:MGI Symbol;Acc:MGI:3780250]|Heterozygous||T|A|122|39.0|Non-synonymous|Alive
5225219|IGL01130|4|145072403|V->I|1.0|Probably damaging|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||C|T|70|38.5|Non-synonymous|Alive
5225220|IGL01130|13|54796188|V->A|0.67|Possibly damaging|MGI:1921507|Tspan17|tetraspanin 17 [Source:MGI Symbol;Acc:MGI:1921507]|Heterozygous||T|C|58|37.0|Non-synonymous|Alive
5225221|IGL01130|19|13341846|F->L|0.2|Benign|MGI:3031300|Olfr1466|olfactory receptor 1466 [Source:MGI Symbol;Acc:MGI:3031300]|Heterozygous||C|A|50|38.0|Non-synonymous|Alive
5225222|IGL01130|6|132910099|N->I|0.76|Possibly damaging|MGI:2681269|Tas2r125|taste receptor, type 2, member 125 [Source:MGI Symbol;Acc:MGI:2681269]|Heterozygous||A|T|50|40.0|Non-synonymous|Alive
5225223|IGL01130|7|19006120|A->S|1.0|Probably damaging|MGI:2442159|Irf2bp1|interferon regulatory factor 2 binding protein 1 [Source:MGI Symbol;Acc:MGI:2442159]|Heterozygous||G|T|41|37.0|Non-synonymous|Alive
5225225|IGL01130|4|88835973|I->T|1.0|Probably damaging|MGI:107663|Ifna5|interferon alpha 5 [Source:MGI Symbol;Acc:MGI:107663]|Heterozygous||T|C|37|37.0|Non-synonymous|Alive
5225226|IGL01130|3|116110968|I->K|0.99|Probably damaging|MGI:98926|Vcam1|vascular cell adhesion molecule 1 [Source:MGI Symbol;Acc:MGI:98926]|Heterozygous|Most homozygous null mutants die by embryonic day 12.5 due to defective placenta and failure of chorion/allantois fusion, and heart developmental anomalies. Survivors are generally normal, but have high numbers of circulating blood mononuclear leukocytes.|A|T|35|37.0|Non-synonymous|Alive
5225227|IGL01130|10|42810860|S->G|0.95|Possibly damaging|MGI:2155302|Sec63|SEC63-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2155302]|Heterozygous||A|G|34|39.0|Non-synonymous|Alive
5225228|IGL01130|13|112892006|N->S||Benign|MGI:1919448|Skiv2l2|superkiller viralicidic activity 2-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919448]|Heterozygous||T|C|34|40.0|Non-synonymous|Alive
5225229|IGL01130|14|56130237|C->Y|1.0|Probably damaging|MGI:109255|Gzmd|granzyme D [Source:MGI Symbol;Acc:MGI:109255]|Heterozygous||C|T|34|38.0|Non-synonymous|Alive
5225230|IGL01130|1|75125889|L->Q|1.0|Probably damaging|MGI:104516|Slc23a3|solute carrier family 23 (nucleobase transporters), member 3 [Source:MGI Symbol;Acc:MGI:104516]|Heterozygous||A|T|33|39.0|Non-synonymous|Alive
5225231|IGL01130|12|7987913|A->E|0.02|Benign|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|C|A|31|40.0|Non-synonymous|Alive
5225232|IGL01130|9|72686119|Disrupted splicing|||MGI:97297|Nedd4|neural precursor cell expressed, developmentally down-regulated 4 [Source:MGI Symbol;Acc:MGI:97297]|Heterozygous|Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development.|G|T|31|38.0|Splice|Alive
5225233|IGL01130|10|116048400|Disrupted splicing|||MGI:109559|Ptprr|protein tyrosine phosphatase, receptor type, R [Source:MGI Symbol;Acc:MGI:109559]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.|A|G|27|37.0|Splice|Alive
5225234|IGL01130|9|37277380|R->W|0.98|Probably damaging|MGI:2444488|Ccdc15|coiled-coil domain containing 15 [Source:MGI Symbol;Acc:MGI:2444488]|Heterozygous||G|A|25|37.0|Non-synonymous|Alive
5225235|IGL01130|16|19530755|H->R|1.0|Probably damaging|MGI:3030002|Olfr168|olfactory receptor 168 [Source:MGI Symbol;Acc:MGI:3030002]|Heterozygous||T|C|24|38.0|Non-synonymous|Alive
5225236|IGL01130|4|155832013|Disrupted splicing|||MGI:1913327|Aurkaip1|aurora kinase A interacting protein 1 [Source:MGI Symbol;Acc:MGI:1913327]|Heterozygous||A|G|22|35.5|Splice|Alive
5225237|IGL01130|9|109112560|D->G|1.0|Probably damaging|MGI:2154238|Plxnb1|plexin B1 [Source:MGI Symbol;Acc:MGI:2154238]|Heterozygous|Homozygous null mutants are normal in embryonic development or in the adult, including angiogenic response induced by implanted tumors.|A|G|22|38.0|Non-synonymous|Alive
5225238|IGL01130|11|87103650|W->R|0.9|Possibly damaging|MGI:2444496|Prr11|proline rich 11 [Source:MGI Symbol;Acc:MGI:2444496]|Heterozygous||A|G|21|39.0|Non-synonymous|Alive
5225239|IGL01130|9|64862426|D->N|1.0|Probably damaging|MGI:2142979|Dennd4a|DENN/MADD domain containing 4A [Source:MGI Symbol;Acc:MGI:2142979]|Heterozygous||G|A|21|37.0|Non-synonymous|Alive
5225240|IGL01130|9|91384218|Y->C|||MGI:107201|Zic4|zinc finger protein of the cerebellum 4 [Source:MGI Symbol;Acc:MGI:107201]|Heterozygous|Mice heterozygous for a knock-out allele exhibit posterior cerebellar hypoplasia and a mild defect in anterior cerebellar foliation.|A|G|19|34.0|Non-synonymous|Alive
5225241|IGL01130|13|38006173|R->S|1.0|Probably damaging|MGI:1918463|Cage1|cancer antigen 1 [Source:MGI Symbol;Acc:MGI:1918463]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive
5225242|IGL01130|5|52862262|T->A|0.54|Possibly damaging|MGI:1098673|Anapc4|anaphase promoting complex subunit 4 [Source:MGI Symbol;Acc:MGI:1098673]|Heterozygous||A|G|18|37.0|Non-synonymous|Alive
5225243|IGL01130|4|129196941|S->P|1.0|Probably damaging|MGI:2147627|Yars|tyrosyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2147627]|Heterozygous||T|C|16|35.5|Non-synonymous|Alive
5225244|IGL01130|5|144024470|I->T|0.33|Benign|MGI:97401|Ocm|oncomodulin [Source:MGI Symbol;Acc:MGI:97401]|Heterozygous|Mice homozygous for a knock-out allele exhibti deafness.|A|G|16|39.5|Non-synonymous|Alive
5225245|IGL01130|18|77981054|D->V|0.98|Probably damaging|MGI:1918673|Epg5|ectopic P-granules autophagy protein 5 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1918673]|Heterozygous||A|T|15|34.0|Non-synonymous|Alive
5225246|IGL01130|11|114780768|I->V|0.12|Benign|MGI:2447024|Kif19a|kinesin family member 19A [Source:MGI Symbol;Acc:MGI:2447024]|Heterozygous||A|G|14|36.5|Non-synonymous|Alive
5225247|IGL01130|3|90065550|Y->F|0.31|Benign|MGI:1920795|1700094d03rik|RIKEN cDNA 1700094D03 gene [Source:MGI Symbol;Acc:MGI:1920795]|Heterozygous||A|T|14|36.0|Non-synonymous|Alive
5225248|IGL01130|15|76188869|Disrupted splicing|||MGI:1277961|Plec|plectin [Source:MGI Symbol;Acc:MGI:1277961]|Heterozygous|Targeted mutations of this gene result in neonatal death, skin blistering, impaired myofibril integrity, reduced hemidesmosome number, and disintegration of intercalated disks in the heart. Mice lacking isoform 1 are viable with no skin blistering but leukocyte recruitment to wounds is impaired.|A|G|13|35.0|Splice|Alive
5225249|IGL01130|7|28150738|C->F|1.0|Probably damaging|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||G|T|13|37.0|Non-synonymous|Alive
5225250|IGL01130|7|97507812|I->V||Benign|MGI:1917164|Ints4|integrator complex subunit 4 [Source:MGI Symbol;Acc:MGI:1917164]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive
5225251|IGL01130|9|15970030|I->T|0.28|Benign|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||A|G|13|36.0|Non-synonymous|Alive
5225252|IGL01130|11|115800743|N->S||Benign|MGI:2157062|Caskin2|CASK-interacting protein 2 [Source:MGI Symbol;Acc:MGI:2157062]|Heterozygous||T|C|11|36.0|Non-synonymous|Alive
5225835|IGL01131|16|32753901|T->N|0.98|Probably damaging|MGI:2153525|Muc4|mucin 4 [Source:MGI Symbol;Acc:MGI:2153525]|Heterozygous||C|A|190|37.0|Non-synonymous|Alive, Line Propagating
5225836|IGL01131|15|9365162|I->N|1.0|Probably damaging|MGI:2145969|Ugt3a2|UDP glycosyltransferases 3 family, polypeptide A2 [Source:MGI Symbol;Acc:MGI:2145969]|Heterozygous||T|A|109|37.0|Non-synonymous|Alive, Line Propagating
5225837|IGL01131|4|117172365|V->M|0.88|Possibly damaging|MGI:1921054|Kif2c|kinesin family member 2C [Source:MGI Symbol;Acc:MGI:1921054]|Heterozygous||C|T|101|37.0|Non-synonymous|Alive, Line Propagating
5225838|IGL01131|6|121321641|Y->C|1.0|Probably damaging|MGI:95629|Slc6a13|solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:MGI Symbol;Acc:MGI:95629]|Heterozygous||A|G|86|35.0|Non-synonymous|Alive, Line Propagating
5225839|IGL01131|19|10857622|Disrupted splicing|||MGI:1929691|Slc15a3|solute carrier family 15, member 3 [Source:MGI Symbol;Acc:MGI:1929691]|Heterozygous||G|A|55|36.0|Splice|Alive, Line Propagating
5225840|IGL01131|7|20023537|D->G|1.0|Probably damaging|MGI:2675377|Nlrp9b|NLR family, pyrin domain containing 9B [Source:MGI Symbol;Acc:MGI:2675377]|Heterozygous||A|G|54|39.0|Non-synonymous|Alive, Line Propagating
5225841|IGL01131|18|32269889|Stop->W||N/A|MGI:95414|Ercc3|excision repair cross-complementing rodent repair deficiency, complementation group 3 [Source:MGI Symbol;Acc:MGI:95414]|Heterozygous|Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation.|A|G|51|35.0|Non-synonymous|Alive, Line Propagating
5225842|IGL01131|19|13234739|D->G||Benign|MGI:3031297|Olfr1463|olfactory receptor 1463 [Source:MGI Symbol;Acc:MGI:3031297]|Heterozygous||A|G|48|39.0|Non-synonymous|Alive, Line Propagating
5225843|IGL01131|11|50392023|L->P|1.0|Probably damaging|MGI:2429762|Rufy1|RUN and FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:2429762]|Heterozygous||A|G|46|38.0|Non-synonymous|Alive, Line Propagating
5225844|IGL01131|6|29536103|E->G|0.98|Probably damaging|MGI:1350924|Irf5|interferon regulatory factor 5 [Source:MGI Symbol;Acc:MGI:1350924]|Heterozygous|Homozygous null mice exhibit resistance to lethal shock induced by either unmethylated DNA or lipopolysaccharide which correlates with a marked decrease in the serum levels of proinflammatory cytokines.|A|G|46|37.5|Non-synonymous|Alive, Line Propagating
5225845|IGL01131|2|69499239|C->Y|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|C|T|37|39.0|Non-synonymous|Alive, Line Propagating
5225846|IGL01131|1|79713872|V->I||Benign|MGI:1916618|Wdfy1|WD repeat and FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:1916618]|Heterozygous||C|T|36|36.5|Non-synonymous|Alive, Line Propagating
5225847|IGL01131|7|132715782|E->G|1.0|Probably damaging|MGI:1925188|Fam53b|family with sequence similarity 53, member B [Source:MGI Symbol;Acc:MGI:1925188]|Heterozygous||T|C|36|38.0|Non-synonymous|Alive, Line Propagating
5225848|IGL01131|9|44821170|A->T||Unknown|MGI:96995|Mll1|myeloid/lymphoid or mixed-lineage leukemia 1 [Source:MGI Symbol;Acc:MGI:96995]|Heterozygous|Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.|C|T|35|34.0|Non-synonymous|Alive, Line Propagating
5225849|IGL01131|6|129584170|F->L|0.96|Probably damaging|MGI:2662547|Klre1|killer cell lectin-like receptor family E member 1 [Source:MGI Symbol;Acc:MGI:2662547]|Heterozygous|Homozygous null mice are viable and fertile and display impaired natural killer cell mediated allogeneic cytotoxicity.|T|C|32|39.5|Non-synonymous|Alive, Line Propagating
5225850|IGL01131|8|95424659|D->G|0.94|Possibly damaging|MGI:107428|Gtl3|gene trap locus 3 [Source:MGI Symbol;Acc:MGI:107428]|Heterozygous||T|C|31|36.0|Non-synonymous|Alive, Line Propagating
5225851|IGL01131|6|148150598|V->A|0.1|Benign|MGI:2687035|Far2|fatty acyl CoA reductase 2 [Source:MGI Symbol;Acc:MGI:2687035]|Heterozygous||T|C|30|38.0|Non-synonymous|Alive, Line Propagating
5225852|IGL01131|2|60758836|M->V||Benign|MGI:1861774|Rbms1|RNA binding motif, single stranded interacting protein 1 [Source:MGI Symbol;Acc:MGI:1861774]|Heterozygous|Only about half the expected number of mice homozygous for disruptions in this gene are produced in matings of heterozygotes. Embryo sizes are reduced. Females have smaller than normal uteri and decreased levels of progesterone during estrus.|T|C|26|37.5|Non-synonymous|Alive, Line Propagating
5225853|IGL01131|4|19543318|D->G|1.0|Probably damaging|MGI:1917818|Cpne3|copine III [Source:MGI Symbol;Acc:MGI:1917818]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive, Line Propagating
5225854|IGL01131|1|169522364|Disrupted splicing|||MGI:1914227|Nuf2|NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914227]|Heterozygous||T|C|25|33.0|Splice|Alive, Line Propagating
5225856|IGL01131|14|110751576|L->Q|1.0|Probably damaging|MGI:2443198|Slitrk6|SLIT and NTRK-like family, member 6 [Source:MGI Symbol;Acc:MGI:2443198]|Heterozygous|Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia.|A|T|24|37.5|Non-synonymous|Alive, Line Propagating
5225857|IGL01131|13|22883159|N->D||Unknown|MGI:2159683|Vmn1r212|vomeronasal 1 receptor 212 [Source:MGI Symbol;Acc:MGI:2159683]|Heterozygous||T|C|23|40.0|Non-synonymous|Alive, Line Propagating
5225858|IGL01131|9|73564053|N->S||Benign|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|T|C|22|36.0|Non-synonymous|Alive, Line Propagating
5225859|IGL01131|14|55872685|K->E|0.65|Possibly damaging|MGI:2652872|Nynrin|NYN domain and retroviral integrase containing [Source:MGI Symbol;Acc:MGI:2652872]|Heterozygous||A|G|21|37.0|Non-synonymous|Alive, Line Propagating
5225861|IGL01131|11|120814619|E->G||Benign|MGI:95485|Fasn|fatty acid synthase [Source:MGI Symbol;Acc:MGI:95485]|Heterozygous|Targeted mutation of this locus has implicated its product in embryogenesis as all homozygotes and most heterozygotes die prior to birth.|T|C|18|37.0|Non-synonymous|Alive, Line Propagating
5225862|IGL01131|1|131755542|Disrupted splicing|||MGI:2444594|Slc26a9|solute carrier family 26, member 9 [Source:MGI Symbol;Acc:MGI:2444594]|Heterozygous|Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion.|T|C|16|37.5|Splice|Alive, Line Propagating
5225864|IGL01131|14|56585760|Disrupted splicing|||MGI:2685589|Parp4|poly (ADP-ribose) polymerase family, member 4 [Source:MGI Symbol;Acc:MGI:2685589]|Heterozygous||C|A|12|35.0|Splice|Alive, Line Propagating
5226462|IGL01132|2|86639166|C->S||Benign|MGI:3030918|Olfr1084|olfactory receptor 1084 [Source:MGI Symbol;Acc:MGI:3030918]|Heterozygous||A|T|231|39.0|Non-synonymous|Alive, Line Propagating
5226463|IGL01132|9|19808654|S->N|0.63|Possibly damaging|MGI:3030693|Olfr859|olfactory receptor 859 [Source:MGI Symbol;Acc:MGI:3030693]|Heterozygous||G|A|203|38.0|Non-synonymous|Alive, Line Propagating
5226464|IGL01132|6|130364274|C->Stop||N/A|MGI:101907|Klra1|killer cell lectin-like receptor, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:101907]|Heterozygous||A|T|151|38.0|Non-synonymous|Alive, Line Propagating
5226465|IGL01132|8|3851274|T->A|0.09|Benign|MGI:2157948|Cd209e|CD209e antigen [Source:MGI Symbol;Acc:MGI:2157948]|Heterozygous||T|C|136|38.0|Non-synonymous|Alive, Line Propagating
5226466|IGL01132|7|109570005|Disrupted splicing|||MGI:108517|St5|suppression of tumorigenicity 5 [Source:MGI Symbol;Acc:MGI:108517]|Heterozygous||A|G|132|35.0|Splice|Alive, Line Propagating
5226467|IGL01132|10|129501646|V->A|1.0|Probably damaging|MGI:3030624|Olfr790|olfactory receptor 790 [Source:MGI Symbol;Acc:MGI:3030624]|Heterozygous||T|C|89|38.0|Non-synonymous|Alive, Line Propagating
5226468|IGL01132|8|36146357|V->A|0.97|Probably damaging|MGI:1196223|D8ertd82e|DNA segment, Chr 8, ERATO Doi 82, expressed [Source:MGI Symbol;Acc:MGI:1196223]|Heterozygous||T|C|81|36.0|Non-synonymous|Alive, Line Propagating
5226469|IGL01132|15|98597851|N->S|||MGI:87917|Adcy6|adenylate cyclase 6 [Source:MGI Symbol;Acc:MGI:87917]|Heterozygous|Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle.|T|C|71|36.0|Non-synonymous|Alive, Line Propagating
5226470|IGL01132|19|20727040|H->R|0.96|Probably damaging|MGI:1347050|Aldh1a7|aldehyde dehydrogenase family 1, subfamily A7 [Source:MGI Symbol;Acc:MGI:1347050]|Heterozygous||T|C|62|38.0|Non-synonymous|Alive, Line Propagating
5226471|IGL01132|15|76300957|S->N|0.92|Possibly damaging|MGI:1922725|Oplah|5-oxoprolinase (ATP-hydrolysing) [Source:MGI Symbol;Acc:MGI:1922725]|Heterozygous||C|T|57|35.0|Non-synonymous|Alive, Line Propagating
5226472|IGL01132|6|116659607|Disrupted splicing|||MGI:2386853|Rassf4|Ras association (RalGDS/AF-6) domain family member 4 [Source:MGI Symbol;Acc:MGI:2386853]|Heterozygous||C|T|49|36.0|Splice|Alive, Line Propagating
5226473|IGL01132|12|104774551|Disrupted splicing|||MGI:2136957|Clmn|calmin [Source:MGI Symbol;Acc:MGI:2136957]|Heterozygous||T|A|37|38.0|Splice|Alive, Line Propagating
5226474|IGL01132|2|110597822|V->A|0.84|Possibly damaging|MGI:2138890|Slc5a12|solute carrier family 5 (sodium/glucose cotransporter), member 12 [Source:MGI Symbol;Acc:MGI:2138890]|Heterozygous||T|C|37|37.0|Non-synonymous|Alive, Line Propagating
5226475|IGL01132|18|71682174|Y->Stop||N/A|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|A|T|36|39.0|Non-synonymous|Alive, Line Propagating
5226476|IGL01132|19|10223205|Y->H|||MGI:2684944|Gm98|predicted gene 98 [Source:MGI Symbol;Acc:MGI:2684944]|Heterozygous||A|G|36|36.0|Non-synonymous|Alive, Line Propagating
5226477|IGL01132|2|29804302|I->T||Benign|MGI:1347347|Slc27a4|solute carrier family 27 (fatty acid transporter), member 4 [Source:MGI Symbol;Acc:MGI:1347347]|Heterozygous|Homozygous mutant mice are not viable. While mice of one mutant line die during early development, mice of other mutant lines die at birth exhibiting abnormal skin.|T|C|35|37.0|Non-synonymous|Alive, Line Propagating
5226480|IGL01132|3|52345159|R->W|1.0|Probably damaging|MGI:1890077|Foxo1|forkhead box O1 [Source:MGI Symbol;Acc:MGI:1890077]|Heterozygous|Homozygous null embryos die at E10.5-E11.5 from vasculature defects. Heterozygote null mice have slightly elevated glycogen levels. Conditionally targeted homozygotes display hemangiomas or defects in na�ve T cell homeostasis depending on the targeted cell type.|C|T|28|36.5|Non-synonymous|Alive, Line Propagating
5226481|IGL01132|11|68768268|M->L|0.78|Possibly damaging|MGI:1930780|Myh10|myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, cardiac abnormalities, and hydroencephaly.|A|T|27|38.0|Non-synonymous|Alive, Line Propagating
5226482|IGL01132|17|74603060|S->P|||MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|T|C|27|34.0|Non-synonymous|Alive, Line Propagating
5226483|IGL01132|17|45539862|A->S|0.71|Possibly damaging|MGI:98640|Tcte1|t-complex-associated testis expressed 1 [Source:MGI Symbol;Acc:MGI:98640]|Heterozygous||G|T|25|32.0|Non-synonymous|Alive, Line Propagating
5226484|IGL01132|8|110842781|I->V||Benign|MGI:1289341|Sf3b3|splicing factor 3b, subunit 3 [Source:MGI Symbol;Acc:MGI:1289341]|Heterozygous||T|C|24|37.0|Non-synonymous|Alive, Line Propagating
5226485|IGL01132|2|93791073|M->I||Benign|MGI:108050|Ext2|exostoses (multiple) 2 [Source:MGI Symbol;Acc:MGI:108050]|Heterozygous|Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs.|C|T|22|38.5|Non-synonymous|Alive, Line Propagating
5226486|IGL01132|9|45752328|R->Stop||N/A|MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|C|T|20|33.0|Non-synonymous|Alive, Line Propagating
5226488|IGL01132|8|117196444|Disrupted splicing|||MGI:1890619|Gan|giant axonal neuropathy [Source:MGI Symbol;Acc:MGI:1890619]|Heterozygous|Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype.|T|A|17|34.0|Splice|Alive, Line Propagating
5226489|IGL01132|7|19200539|S->C|0.85|Possibly damaging|MGI:1919455|Eml2|echinoderm microtubule associated protein like 2 [Source:MGI Symbol;Acc:MGI:1919455]|Heterozygous||A|T|16|36.5|Non-synonymous|Alive, Line Propagating
5227082|IGL01133|12|81421446|T->A|0.89|Possibly damaging|MGI:104731|Adam4|a disintegrin and metallopeptidase domain 4 [Source:MGI Symbol;Acc:MGI:104731]|Heterozygous||T|C|202|38.0|Non-synonymous|Line Propagating
5227083|IGL01133|11|101411960|F->L|0.18|Benign|MGI:1916934|Aarsd1,aarsd1|Alanyl-tRNA synthetase domain containing 1; Alanyl-tRNA-editing protein Aarsd1 [Source:UniProtKB/TrEMBL;Acc:A2A4P3],alanyl-tRNA synthetase domain containing 1 [Source:MGI Symbol;Acc:MGI:1916934]|Heterozygous||G|T|105|36.0|Non-synonymous|Line Propagating
5227084|IGL01133|7|26210235|G->D|1.0|Probably damaging|MGI:88600|Cyp2b9|cytochrome P450, family 2, subfamily b, polypeptide 9 [Source:MGI Symbol;Acc:MGI:88600]|Heterozygous||G|A|77|37.0|Non-synonymous|Line Propagating
5227085|IGL01133|11|29234414|V->G|1.0|Probably damaging|MGI:1913994|Ccdc104|coiled-coil domain containing 104 [Source:MGI Symbol;Acc:MGI:1913994]|Heterozygous||A|C|68|39.0|Non-synonymous|Line Propagating
5227086|IGL01133|5|98498381|Disrupted splicing|||MGI:1916571|1700007g11rik|RIKEN cDNA 1700007G11 gene [Source:MGI Symbol;Acc:MGI:1916571]|Heterozygous||T|C|61|37.0|Splice|Line Propagating
5227087|IGL01133|13|18031449|T->A|||MGI:1270159|Vdac3-ps1|voltage-dependent anion channel 3, pseudogene 1 [Source:MGI Symbol;Acc:MGI:1270159]|Heterozygous||T|C|54|38.0|Non-synonymous|Line Propagating
5227088|IGL01133|2|39023472|T->A||Benign|MGI:1924149|Golga1|golgi autoantigen, golgin subfamily a, 1 [Source:MGI Symbol;Acc:MGI:1924149]|Heterozygous||T|C|48|38.0|Non-synonymous|Line Propagating
5227089|IGL01133|11|98157986|Y->Stop||N/A|MGI:1100846|Med1|mediator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1100846]|Heterozygous|Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5.|A|T|46|38.0|Non-synonymous|Line Propagating
5227090|IGL01133|15|101848193|D->E|0.98|Probably damaging|MGI:96698|Krt1|keratin 1 [Source:MGI Symbol;Acc:MGI:96698]|Heterozygous|Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age.|A|T|43|38.0|Non-synonymous|Line Propagating
5227091|IGL01133|16|33727287|H->Y||Benign|MGI:1924696|Heg1|HEG homolog 1 (zebrafish) [Source:MGI Symbol;Acc:MGI:1924696]|Heterozygous|Homozygous null mice display partial penetrance of prenatal and postnatal lethality with abnormal heart development, henorrhages, and leaky lymphatic vessels.|C|T|41|38.0|Non-synonymous|Line Propagating
5227092|IGL01133|15|79076920|Y->H|0.78|Possibly damaging|MGI:2386251|Eif3l|eukaryotic translation initiation factor 3, subunit L [Source:MGI Symbol;Acc:MGI:2386251]|Heterozygous||T|C|40|35.0|Non-synonymous|Line Propagating
5227093|IGL01133|2|34725398|Y->C|0.98|Probably damaging|MGI:1913941|Gapvd1|GTPase activating protein and VPS9 domains 1 [Source:MGI Symbol;Acc:MGI:1913941]|Heterozygous||T|C|40|38.0|Non-synonymous|Line Propagating
5227094|IGL01133|17|26975011|Disrupted splicing|||MGI:1918022|Zbtb9|zinc finger and BTB domain containing 9 [Source:MGI Symbol;Acc:MGI:1918022]|Heterozygous||G|T|39|34.0|Splice|Line Propagating
5227095|IGL01133|5|104517662|T->A|0.02|Benign|MGI:3040669|Bc005561|cDNA sequence BC005561 [Source:MGI Symbol;Acc:MGI:3040669]|Heterozygous||A|G|37|34.0|Non-synonymous|Line Propagating
5227096|IGL01133|13|96614802|E->G|0.95|Possibly damaging|MGI:1915268|Col4a3bp|collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [Source:MGI Symbol;Acc:MGI:1915268]|Heterozygous|Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation.|A|G|34|37.0|Non-synonymous|Line Propagating
5227098|IGL01133|7|102679141|Disrupted splicing|||MGI:2142077|Trim68|tripartite motif-containing 68 [Source:MGI Symbol;Acc:MGI:2142077]|Heterozygous||A|T|31|36.0|Splice|Line Propagating
5227100|IGL01133|12|55642348|I->V|0.4|Benign|MGI:1931050|Ralgapa1|Ral GTPase activating protein, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:1931050]|Heterozygous||T|C|25|38.0|Non-synonymous|Line Propagating
5227101|IGL01133|12|55642359|H->R|1.0|Probably damaging|MGI:1931050|Ralgapa1|Ral GTPase activating protein, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:1931050]|Heterozygous||T|C|25|39.0|Non-synonymous|Line Propagating
5227103|IGL01133|4|131843596|S->T|0.03|Benign|MGI:1349441|Mecr|mitochondrial trans-2-enoyl-CoA reductase [Source:MGI Symbol;Acc:MGI:1349441]|Heterozygous||T|A|22|31.5|Non-synonymous|Line Propagating
5227104|IGL01133|12|104121499|I->T|||MGI:1921319|Serpina3a|serine (or cysteine) peptidase inhibitor, clade A, member 3A [Source:MGI Symbol;Acc:MGI:1921319]|Heterozygous||T|C|21|38.0|Non-synonymous|Line Propagating
5227105|IGL01133|1|174250526|S->G|0.05|Benign|MGI:3030253|Olfr419|olfactory receptor 419 [Source:MGI Symbol;Acc:MGI:3030253]|Heterozygous||T|C|20|39.5|Non-synonymous|Line Propagating
5227106|IGL01133|13|99900040|I->L|0.4|Benign|MGI:1351330|Cartpt|CART prepropeptide [Source:MGI Symbol;Acc:MGI:1351330]|Heterozygous|Homozygous null mice exhibit increases in food consumption, body weight, and fat mass when fed a high-fat diet, but not on a regular diet. Mice homozygous for another disruption in this gene have increased body weight at older ages, impaired insulin secretion and glucose intolerance.|T|G|20|35.0|Non-synonymous|Line Propagating
5227107|IGL01133|7|86148032|Disrupted splicing|||MGI:3648311|Vmn2r75|vomeronasal 2, receptor 75 [Source:MGI Symbol;Acc:MGI:3648311]|Heterozygous||A|G|20|39.0|Splice|Line Propagating
5227108|IGL01133|7|116145241|Disrupted splicing|||MGI:2445094|Plekha7|pleckstrin homology domain containing, family A member 7 [Source:MGI Symbol;Acc:MGI:2445094]|Heterozygous||G|T|20|40.5|Splice|Line Propagating
5227109|IGL01133|7|29987808|Disrupted splicing|||MGI:2142347|Zfp568|zinc finger protein 568 [Source:MGI Symbol;Acc:MGI:2142347]|Heterozygous|Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to close neural tube.|T|A|18|37.0|Splice|Line Propagating
5227110|IGL01133|10|97694539|F->L||Unknown|MGI:1913966|4921510h08rik|RIKEN cDNA 4921510H08 gene [Source:MGI Symbol;Acc:MGI:1913966]|Heterozygous||T|C|17|38.0|Non-synonymous|Line Propagating
5227111|IGL01133|19|44527041|F->S|0.99|Probably damaging|MGI:2685187|Sec31b|Sec31 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2685187]|Heterozygous||A|G|17|36.0|Non-synonymous|Line Propagating
5227112|IGL01133|15|8645687|I->T|0.48|Possibly damaging|MGI:99917|Slc1a3|solute carrier family 1 (glial high affinity glutamate transporter), member 3 [Source:MGI Symbol;Acc:MGI:99917]|Heterozygous|Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system.|A|G|16|35.0|Non-synonymous|Line Propagating
5227114|IGL01133|4|141489901|K->R||Unknown|MGI:1891706|Spen|SPEN homolog, transcriptional regulator (Drosophila) [Source:MGI Symbol;Acc:MGI:1891706]|Heterozygous|Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells.|T|C|16|38.0|Non-synonymous|Line Propagating
5227115|IGL01133|10|59416417|A->S|0.01|Benign|MGI:1917086|Pla2g12b|phospholipase A2, group XIIB [Source:MGI Symbol;Acc:MGI:1917086]|Heterozygous||G|T|15|32.0|Non-synonymous|Line Propagating
5227116|IGL01133|5|144752445|S->P|0.75|Possibly damaging|MGI:3607706|Tmem130|transmembrane protein 130 [Source:MGI Symbol;Acc:MGI:3607706]|Heterozygous||A|G|15|36.0|Non-synonymous|Line Propagating
5227117|IGL01133|11|23595434|D->E|1.0|Probably damaging|MGI:1918925|0610010f05rik|RIKEN cDNA 0610010F05 gene [Source:MGI Symbol;Acc:MGI:1918925]|Heterozygous||A|T|14|36.0|Non-synonymous|Line Propagating
5227118|IGL01133|15|8650993|Y->C|1.0|Probably damaging|MGI:99917|Slc1a3|solute carrier family 1 (glial high affinity glutamate transporter), member 3 [Source:MGI Symbol;Acc:MGI:99917]|Heterozygous|Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system.|T|C|12|35.0|Non-synonymous|Line Propagating
5227731|IGL01134|7|26081700|I->N|1.0|Probably damaging|MGI:88599|Cyp2b13|cytochrome P450, family 2, subfamily b, polypeptide 13 [Source:MGI Symbol;Acc:MGI:88599]|Heterozygous||T|A|106|37.0|Non-synonymous|Alive, Line Propagating
5227732|IGL01134|15|82760901|A->S|0.26|Benign|MGI:1919004|Cyp2d40|cytochrome P450, family 2, subfamily d, polypeptide 40 [Source:MGI Symbol;Acc:MGI:1919004]|Heterozygous||C|A|103|35.0|Non-synonymous|Alive, Line Propagating
5227733|IGL01134|7|81319078|R->Q|0.98|Probably damaging|MGI:1277116|Pde8a|phosphodiesterase 8A [Source:MGI Symbol;Acc:MGI:1277116]|Heterozygous|Targeted disruption of this gene results in a 4-fold increase in basal release of testosterone in isolated Leydig cells as well as a significant increase in the sensitivity to luteinizing hormone, measured as testosterone released into the media.|G|A|91|39.0|Non-synonymous|Alive, Line Propagating
5227734|IGL01134|3|79512503|Y->Stop||N/A|MGI:2683054|Fnip2|folliculin interacting protein 2 [Source:MGI Symbol;Acc:MGI:2683054]|Heterozygous||G|T|75|36.0|Non-synonymous|Alive, Line Propagating
5227735|IGL01134|8|72193531|D->V|0.51|Possibly damaging|MGI:2676364|Hsh2d|hematopoietic SH2 domain containing [Source:MGI Symbol;Acc:MGI:2676364]|Heterozygous||A|T|69|33.0|Non-synonymous|Alive, Line Propagating
5227736|IGL01134|8|125863150|V->I||Benign|MGI:2445010|Pcnxl2|pecanex-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2445010]|Heterozygous||C|T|68|35.5|Non-synonymous|Alive, Line Propagating
5227737|IGL01134|11|84251279|H->Q|0.01|Benign|MGI:108451|Acaca|acetyl-Coenzyme A carboxylase alpha [Source:MGI Symbol;Acc:MGI:108451]|Heterozygous|Homozygous null mice display embryonic lethality before embryo turning with growth arrest at the egg cylinder stage.|T|G|65|36.0|Non-synonymous|Alive, Line Propagating
5227738|IGL01134|9|7573297|M->R|0.06|Benign|MGI:3039232|Mmp27|matrix metallopeptidase 27 [Source:MGI Symbol;Acc:MGI:3039232]|Heterozygous||T|G|62|40.0|Non-synonymous|Alive, Line Propagating
5227739|IGL01134|19|21417065|S->P|1.0|Probably damaging|MGI:95678|Gda|guanine deaminase [Source:MGI Symbol;Acc:MGI:95678]|Heterozygous||A|G|61|38.0|Non-synonymous|Alive, Line Propagating
5227740|IGL01134|4|132205478|F->I|1.0|Probably damaging|MGI:2444233|Ythdf2|YTH domain family 2 [Source:MGI Symbol;Acc:MGI:2444233]|Heterozygous||A|T|60|38.0|Non-synonymous|Alive, Line Propagating
5227741|IGL01134|2|66504968|Y->H|||MGI:107636|Scn9a|sodium channel, voltage-gated, type IX, alpha [Source:MGI Symbol;Acc:MGI:107636]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.|A|G|59|38.0|Non-synonymous|Alive, Line Propagating
5227742|IGL01134|5|88108519|S->P|0.95|Possibly damaging|MGI:102762|Smr2|submaxillary gland androgen regulated protein 2 [Source:MGI Symbol;Acc:MGI:102762]|Heterozygous||T|C|53|39.0|Non-synonymous|Alive, Line Propagating
5227743|IGL01134|17|31987404|L->S|1.0|Probably damaging|MGI:1921627|Hsf2bp|heat shock transcription factor 2 binding protein [Source:MGI Symbol;Acc:MGI:1921627]|Heterozygous||A|G|52|40.0|Non-synonymous|Alive, Line Propagating
5227744|IGL01134|16|64926138|T->S|0.01|Benign|MGI:99842|Htr1f|5-hydroxytryptamine (serotonin) receptor 1F [Source:MGI Symbol;Acc:MGI:99842]|Heterozygous|Mice homozygous for disruptions in this gene display decreased temperature sensitivity and physiological abnormalities in nerve fibers.|T|A|47|37.0|Non-synonymous|Alive, Line Propagating
5227745|IGL01134|6|124858857|R->G|0.95|Possibly damaging|MGI:1315214|Gpr162|G protein-coupled receptor 162 [Source:MGI Symbol;Acc:MGI:1315214]|Heterozygous||T|C|41|35.0|Non-synonymous|Alive, Line Propagating
5227746|IGL01134|7|20023187|I->M||Benign|MGI:2675377|Nlrp9b|NLR family, pyrin domain containing 9B [Source:MGI Symbol;Acc:MGI:2675377]|Heterozygous||A|G|40|37.5|Non-synonymous|Alive, Line Propagating
5227747|IGL01134|8|107388955|D->G|0.94|Possibly damaging|MGI:103187|Nqo1|NAD(P)H dehydrogenase, quinone 1 [Source:MGI Symbol;Acc:MGI:103187]|Heterozygous|Targeted null mice display increased toxicity to menadione, insulin resistance, an altered intracellular redox status, as well as decreased pyridine nucleotide synthesis, gluconeogenesis and fatty acid metabolism, leading to reduced quantities of abdominal adipose tissue.|T|C|38|37.0|Non-synonymous|Alive, Line Propagating
5227748|IGL01134|1|164191979|R->S|0.93|Possibly damaging|MGI:88382|F5|coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]|Heterozygous||A|T|37|39.0|Non-synonymous|Alive, Line Propagating
5227749|IGL01134|9|111391781|S->P||Benign|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|C|33|37.0|Non-synonymous|Alive, Line Propagating
5227750|IGL01134|3|134240659|I->V|0.97|Probably damaging|MGI:2442112|Cxxc4|CXXC finger 4 [Source:MGI Symbol;Acc:MGI:2442112]|Heterozygous||A|G|31|38.0|Non-synonymous|Alive, Line Propagating
5227751|IGL01134|1|42903397|I->M|0.76|Possibly damaging|MGI:1916777|Mrps9|mitochondrial ribosomal protein S9 [Source:MGI Symbol;Acc:MGI:1916777]|Heterozygous||A|G|30|37.0|Non-synonymous|Alive, Line Propagating
5227752|IGL01134|4|25620446|Q->K|0.02|Benign|MGI:1330859|Fut9|fucosyltransferase 9 [Source:MGI Symbol;Acc:MGI:1330859]|Heterozygous|Homozygous mutant mice are viable and do not exhibit any overt abnormalities.|G|T|30|38.0|Non-synonymous|Alive, Line Propagating
5227753|IGL01134|15|80212176|N->K|0.52|Possibly damaging|MGI:104532|Mgat3|mannoside acetylglucosaminyltransferase 3 [Source:MGI Symbol;Acc:MGI:104532]|Heterozygous|Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation.|C|A|27|36.0|Non-synonymous|Alive, Line Propagating
5227754|IGL01134|3|59042275|E->K|0.36|Benign|MGI:2139916|Med12l|mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)-like [Source:MGI Symbol;Acc:MGI:2139916]|Heterozygous||G|A|26|37.5|Non-synonymous|Alive, Line Propagating
5227755|IGL01134|12|52937217|A->E|0.2|Benign|MGI:3050566|Akap6|A kinase (PRKA) anchor protein 6 [Source:MGI Symbol;Acc:MGI:3050566]|Heterozygous||C|A|25|35.0|Non-synonymous|Alive, Line Propagating
5227756|IGL01134|13|18866150|S->G|0.11|Benign|MGI:1929215|Vps41|vacuolar protein sorting 41 (yeast) [Source:MGI Symbol;Acc:MGI:1929215]|Heterozygous||A|G|24|37.5|Non-synonymous|Alive, Line Propagating
5227758|IGL01134|5|14252770|R->G|1.0|Probably damaging|MGI:1340034|Sema3e|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E [Source:MGI Symbol;Acc:MGI:1340034]|Heterozygous|Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc.|A|G|21|35.0|Non-synonymous|Alive, Line Propagating
5227759|IGL01134|15|4915152|S->T||Benign|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||T|A|20|39.0|Non-synonymous|Alive, Line Propagating
5227761|IGL01134|5|149204293|F->L|0.57|Possibly damaging|MGI:2442342|Uspl1|ubiquitin specific peptidase like 1 [Source:MGI Symbol;Acc:MGI:2442342]|Heterozygous||T|A|17|38.0|Non-synonymous|Alive, Line Propagating
5227762|IGL01134|11|87604067|T->M|0.98|Probably damaging|MGI:2180699|Mtmr4|myotubularin related protein 4 [Source:MGI Symbol;Acc:MGI:2180699]|Heterozygous||C|T|16|38.0|Non-synonymous|Alive, Line Propagating
5227763|IGL01134|7|26809831|N->S|0.02|Benign|MGI:109612|Cyp2g1|cytochrome P450, family 2, subfamily g, polypeptide 1 [Source:MGI Symbol;Acc:MGI:109612]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype.|A|G|14|36.5|Non-synonymous|Alive, Line Propagating
5228369|IGL01135|7|17902471|I->F|0.93|Possibly damaging|MGI:3647191|Gm5155|predicted gene 5155 [Source:MGI Symbol;Acc:MGI:3647191]|Heterozygous||A|T|130|38.0|Non-synonymous|Alive, Line Propagating
5228370|IGL01135|4|125632415|T->I||Benign|MGI:95816|Grik3|glutamate receptor, ionotropic, kainate 3 [Source:MGI Symbol;Acc:MGI:95816]|Heterozygous|Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation.|C|T|106|37.0|Non-synonymous|Alive, Line Propagating
5228371|IGL01135|13|3548855|Disrupted splicing|||MGI:99845|Gdi2|guanosine diphosphate (GDP) dissociation inhibitor 2 [Source:MGI Symbol;Acc:MGI:99845]|Heterozygous||A|G|105|37.0|Splice|Alive, Line Propagating
5228372|IGL01135|7|106678193|A->T|0.83|Possibly damaging|MGI:3030527|Olfr693|olfactory receptor 693 [Source:MGI Symbol;Acc:MGI:3030527]|Heterozygous||C|T|96|37.5|Non-synonymous|Alive, Line Propagating
5228373|IGL01135|2|84818887|S->P||Benign|MGI:1915928|Smtnl1|smoothelin-like 1 [Source:MGI Symbol;Acc:MGI:1915928]|Heterozygous|Mice homozygous for a null allele exhibit vascular and muscular adaptations normally found in exercised animals as well as increased exercise endurance.|A|G|86|38.0|Non-synonymous|Alive, Line Propagating
5228374|IGL01135|9|85326599|V->A|0.99|Probably damaging|MGI:2670964|Fam46a|family with sequence similarity 46, member A [Source:MGI Symbol;Acc:MGI:2670964]|Heterozygous||A|G|72|35.0|Non-synonymous|Alive, Line Propagating
5228375|IGL01135|8|45024840|F->I|0.99|Probably damaging|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|T|A|63|36.0|Non-synonymous|Alive, Line Propagating
5228376|IGL01135|17|3696252|T->S||Unknown|MGI:2681162|Nox3|NADPH oxidase 3 [Source:MGI Symbol;Acc:MGI:2681162]|Heterozygous||T|A|57|38.0|Non-synonymous|Alive, Line Propagating
5228377|IGL01135|1|65251635|N->K|0.46|Possibly damaging|MGI:1335106|Pikfyve|phosphoinositide kinase, FYVE finger containing [Source:MGI Symbol;Acc:MGI:1335106]|Heterozygous|Mice homozygous for a knock-out allele die prior to implantation with reduced cell numbers in the inner cell mass and trophectoderm and failure to form or maintain the blastocoele.|T|A|55|39.0|Non-synonymous|Alive, Line Propagating
5228378|IGL01135|1|191548330|T->K|1.0|Probably damaging|MGI:1924093|Dtl|denticleless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924093]|Heterozygous|Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation.|G|T|51|38.0|Non-synonymous|Alive, Line Propagating
5228379|IGL01135|9|73484893|V->A|0.99|Probably damaging|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|A|G|50|38.0|Non-synonymous|Alive, Line Propagating
5228380|IGL01135|14|7909736|V->I||Benign|MGI:2446089|Flnb|filamin, beta [Source:MGI Symbol;Acc:MGI:2446089]|Heterozygous|Mouse homozygous for disruption of coding region due to a gene trapped vector exhibit partial prenatal and postnatal lethality, alteration in skeletal system including fusion of vertebrae and other skeletal elements.|G|A|49|37.0|Non-synonymous|Alive, Line Propagating
5228381|IGL01135|1|164303930|Disrupted splicing|||MGI:1201607|Blzf1|basic leucine zipper nuclear factor 1 [Source:MGI Symbol;Acc:MGI:1201607]|Heterozygous||A|G|48|38.0|Splice|Alive, Line Propagating
5228382|IGL01135|6|85477908|S->T|0.09|Benign|MGI:1261912|Fbxo41|F-box protein 41 [Source:MGI Symbol;Acc:MGI:1261912]|Heterozygous||A|T|47|34.0|Non-synonymous|Alive, Line Propagating
5228383|IGL01135|2|121361150|D->A|1.0|Probably damaging|MGI:99441|Ckmt1|creatine kinase, mitochondrial 1, ubiquitous [Source:MGI Symbol;Acc:MGI:99441]|Heterozygous|Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition.|A|C|45|38.0|Non-synonymous|Alive, Line Propagating
5228384|IGL01135|1|140354555|Disrupted splicing|||MGI:3036273|Kcnt2|potassium channel, subfamily T, member 2 [Source:MGI Symbol;Acc:MGI:3036273]|Heterozygous||T|C|43|39.0|Splice|Alive, Line Propagating
5228385|IGL01135|9|106212828|I->V||Benign|MGI:1346078|Twf2|twinfilin, actin-binding protein, homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1346078]|Heterozygous||A|G|42|37.0|Non-synonymous|Alive, Line Propagating
5228386|IGL01135|2|13521260|Disrupted splicing|||MGI:1274787|Trdmt1|tRNA aspartic acid methyltransferase 1 [Source:MGI Symbol;Acc:MGI:1274787]|Heterozygous|Mice homozygous for disruptions in this gene have a decreased proportion of natural killer cells in the peripheral blood.|T|C|41|37.0|Splice|Alive, Line Propagating
5228387|IGL01135|1|72665219|N->S|0.07|Benign|MGI:2442559|Ankar|ankyrin and armadillo repeat containing [Source:MGI Symbol;Acc:MGI:2442559]|Heterozygous||T|C|34|39.0|Non-synonymous|Alive, Line Propagating
5228388|IGL01135|7|118382047|G->S|0.98|Probably damaging|MGI:104966|Syt17|synaptotagmin XVII [Source:MGI Symbol;Acc:MGI:104966]|Heterozygous||C|T|34|35.0|Non-synonymous|Alive, Line Propagating
5228389|IGL01135|5|107215028|H->Q|0.99|Probably damaging|MGI:104637|Tgfbr3|transforming growth factor, beta receptor III [Source:MGI Symbol;Acc:MGI:104637]|Heterozygous|Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system.|A|T|33|36.0|Non-synonymous|Alive, Line Propagating
5228390|IGL01135|5|35588752|V->E||Benign|MGI:1933156|Acox3|acyl-Coenzyme A oxidase 3, pristanoyl [Source:MGI Symbol;Acc:MGI:1933156]|Heterozygous||T|A|30|34.0|Non-synonymous|Alive, Line Propagating
5228391|IGL01135|16|23115776|R->C|1.0|Probably damaging|MGI:2146571|Rfc4|replication factor C (activator 1) 4 [Source:MGI Symbol;Acc:MGI:2146571]|Heterozygous||G|A|29|38.0|Non-synonymous|Alive, Line Propagating
5228393|IGL01135|10|39948072|M->T|0.11|Benign|MGI:3773841|G630090e17rik|RIKEN cDNA G630090E17 gene [Source:MGI Symbol;Acc:MGI:3773841]|Heterozygous||A|G|28|35.0|Non-synonymous|Alive, Line Propagating
5228394|IGL01135|13|105445284|V->A|0.88|Possibly damaging|MGI:96273|Htr1a|5-hydroxytryptamine (serotonin) receptor 1A [Source:MGI Symbol;Acc:MGI:96273]|Heterozygous|Homozygotes for targeted null mutations show a common phenotype, including augmented anxious-like behavior in the elevated plus-maze, open-field, and novel object tests, reduced immobility in the forced-swim or tail-suspension test, and changes in density of 5-HTT binding in several brain regions.|T|C|23|35.0|Non-synonymous|Alive, Line Propagating
5228395|IGL01135|15|82853900|M->L||Benign|MGI:108399|Tcf20|transcription factor 20 [Source:MGI Symbol;Acc:MGI:108399]|Heterozygous||T|A|22|35.5|Non-synonymous|Alive, Line Propagating
5228397|IGL01135|18|42395966|Q->Stop||N/A|MGI:102523|Pou4f3|POU domain, class 4, transcription factor 3 [Source:MGI Symbol;Acc:MGI:102523]|Heterozygous|Affected mice are slightly smaller than their littermates and exhibit vertical head-tossing, circling and general hyperactive behavior typical of the shaker-waltzer class of mutants.|C|T|21|36.0|Non-synonymous|Alive, Line Propagating
5228398|IGL01135|3|105732035|T->S||Benign|MGI:97852|Rap1a|RAS-related protein-1a [Source:MGI Symbol;Acc:MGI:97852]|Heterozygous|Mice homozygous for a null allele exhibit impaired leukocyte migration and decreased angiogenesis.|T|A|14|39.0|Non-synonymous|Alive, Line Propagating
5228399|IGL01135|12|18533374|R->H|||MGI:1917882|5730507c01rik|RIKEN cDNA 5730507C01 gene [Source:MGI Symbol;Acc:MGI:1917882]|Heterozygous||G|A|13|38.0|Non-synonymous|Alive, Line Propagating
5228400|IGL01135|3|87931761|D->V|0.96|Probably damaging|MGI:2140076|Isg20l2|interferon stimulated exonuclease gene 20-like 2 [Source:MGI Symbol;Acc:MGI:2140076]|Heterozygous||A|T|13|38.0|Non-synonymous|Alive, Line Propagating
5228987|IGL01136|X|8421530|S->Stop||N/A|MGI:1915235|Ssxb1|synovial sarcoma, X member B, breakpoint 1 [Source:MGI Symbol;Acc:MGI:1915235]|Heterozygous||C|A|264|39.0|Non-synonymous|Alive
5228988|IGL01136|12|114646710|Y->Stop||N/A|MGI:3052201, MGI:3581248, MGI:4361843, MGI:4439781|Ac090843.3||Heterozygous||A|T|198|37.5|Non-synonymous|Alive
5228990|IGL01136|13|23163365|F->L|1.0|Probably damaging|MGI:2159676|Vmn1r219|vomeronasal 1 receptor 219 [Source:MGI Symbol;Acc:MGI:2159676]|Heterozygous||T|A|138|39.0|Non-synonymous|Alive
5228991|IGL01136|12|114523677|C->Stop||N/A|MGI:3581248, MGI:3052201, MGI:3648785, MGI:4361843|Ac073561.4||Heterozygous||A|T|121|35.0|Non-synonymous|Alive
5228992|IGL01136|3|154256596|Disrupted splicing|||MGI:3035141|Slc44a5|solute carrier family 44, member 5 [Source:MGI Symbol;Acc:MGI:3035141]|Heterozygous||C|T|117|39.0|Splice|Alive
5228993|IGL01136|6|58874293|I->T||Benign|MGI:1921248|Herc3|hect domain and RLD 3 [Source:MGI Symbol;Acc:MGI:1921248]|Heterozygous||T|C|117|37.0|Non-synonymous|Alive
5228994|IGL01136|8|23181778|N->K||Benign|MGI:2142716|Agpat6|1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) [Source:MGI Symbol;Acc:MGI:2142716]|Heterozygous|Nursing mothers homozygous for a gene trap allele display underdeveloped mammary glands that are depleted in intracellular fat droplets and lack the ability to produce diacylglycerol- and triacylglycerol-rich milk; pups nursed by mutant mothers die neonatally unless transferred to foster mothers.|A|T|114|35.0|Non-synonymous|Alive
5228995|IGL01136|17|8898867|T->M|1.0|Probably damaging|MGI:1345143|Pde10a|phosphodiesterase 10A [Source:MGI Symbol;Acc:MGI:1345143]|Heterozygous|Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. Females are smaller in size. A hypomorphic allele results in increased social behavior.|C|T|109|39.0|Non-synonymous|Alive
5228996|IGL01136|11|9298682|R->S||Benign|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||C|A|108|37.5|Non-synonymous|Alive
5228997|IGL01136|6|57234311|D->E|||MGI:2148528|Vmn1r14|vomeronasal 1 receptor 14 [Source:MGI Symbol;Acc:MGI:2148528]|Heterozygous||T|A|104|37.0|Non-synonymous|Alive
5228998|IGL01136|8|80504791|I->V|0.35|Benign|MGI:95880|Gypa|glycophorin A [Source:MGI Symbol;Acc:MGI:95880]|Heterozygous|Mice homozygous for a targeted null mutation are viable and fertile; however, mutant erythrocytes had a reduced percentage of O-linked glycoproteins in the membranes, and were sensitive to hypoosmotic stress.|A|G|101|38.0|Non-synonymous|Alive
5228999|IGL01136|10|26917003|Disrupted splicing|||MGI:1921160|Arhgap18|Rho GTPase activating protein 18 [Source:MGI Symbol;Acc:MGI:1921160]|Heterozygous||A|T|98|38.0|Splice|Alive
5229000|IGL01136|5|14911503|L->P|0.06|Benign|MGI:3704245|Gm9758|predicted gene 9758 [Source:MGI Symbol;Acc:MGI:3704245]|Heterozygous||A|G|92|36.0|Non-synonymous|Alive
5229001|IGL01136|17|55592403|I->F|0.21|Benign|MGI:3761695|Vmn2r118|vomeronasal 2, receptor 118 [Source:MGI Symbol;Acc:MGI:3761695]|Heterozygous||T|A|88|40.0|Non-synonymous|Alive
5229002|IGL01136|9|87713505|R->W|||MGI:1923615|Tbx18|T-box18 [Source:MGI Symbol;Acc:MGI:1923615]|Heterozygous|Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib, and spinal nerve morphology.|T|A|88|35.5|Non-synonymous|Alive
5229003|IGL01136|4|136999505|M->L||Benign|MGI:2682254|Zbtb40|zinc finger and BTB domain containing 40 [Source:MGI Symbol;Acc:MGI:2682254]|Heterozygous||T|A|61|38.0|Non-synonymous|Alive
5229004|IGL01136|5|53651377|D->V||Benign|MGI:96522|Rbpj|recombination signal binding protein for immunoglobulin kappa J region [Source:MGI Symbol;Acc:MGI:96522]|Heterozygous|Homozygous null mutants show retarded growth, incomplete turning, microencephaly, placenta defects and die by midgestation. Heterozygotes have learning/memory defects. Conditional mutants lack marginal zone B cells, show hair loss and epidermal defects.|A|T|57|38.0|Non-synonymous|Alive
5229005|IGL01136|5|74212288|V->A|0.39|Benign|MGI:2443446|Scfd2|Sec1 family domain containing 2 [Source:MGI Symbol;Acc:MGI:2443446]|Heterozygous||A|G|54|36.0|Non-synonymous|Alive
5229006|IGL01136|12|13377462|H->Y|0.05|Benign|MGI:1918419|Nbas|neuroblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1918419]|Heterozygous||C|T|53|41.0|Non-synonymous|Alive
5229007|IGL01136|17|17385579|Disrupted splicing|||MGI:1914295|Riok2|RIO kinase 2 (yeast) [Source:MGI Symbol;Acc:MGI:1914295]|Heterozygous||A|G|50|40.0|Splice|Alive
5229008|IGL01136|18|12204822|N->S|||MGI:1097712|Npc1|Niemann Pick type C1 [Source:MGI Symbol;Acc:MGI:1097712]|Heterozygous|Homozygotes for spontaneous and chemically induced mutations may exhibit lysosomal storage of non-esterified cholesterol, neurodegeneration, ataxia, presence of foam cells, sterility, and shortened lifespan.|T|C|50|38.0|Non-synonymous|Alive
5229009|IGL01136|9|21991620|S->R|0.08|Benign|MGI:1924859|Ccdc151|coiled-coil domain containing 151 [Source:MGI Symbol;Acc:MGI:1924859]|Heterozygous||A|T|48|34.0|Non-synonymous|Alive
5229010|IGL01136|X|73856718|N->S|0.04|Benign|MGI:96721|L1cam|L1 cell adhesion molecule [Source:MGI Symbol;Acc:MGI:96721]|Heterozygous|Homozygous null mutants have reduced size, lessened sensitivity to touch and pain, weakness and incoordination of hind-legs, reduced corticospinal tract, impaired guidance of retinal and corticospinal axons, and in some cases, enlarged lateral ventricles. A hypomorphic line shows background effects.|T|C|48|35.5|Non-synonymous|Alive
5229011|IGL01136|9|66863460|I->V||Benign|MGI:2442982|Rab8b|RAB8B, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:2442982]|Heterozygous||T|C|47|39.0|Non-synonymous|Alive
5229012|IGL01136|17|34385658|F->S|||MGI:1932027|Btnl1|butyrophilin-like 1 [Source:MGI Symbol;Acc:MGI:1932027]|Heterozygous||T|C|45|37.0|Non-synonymous|Alive
5229013|IGL01136|3|83071370|E->G|1.0|Probably damaging|MGI:1858197|Plrg1|pleiotropic regulator 1, PRL1 homolog (Arabidopsis) [Source:MGI Symbol;Acc:MGI:1858197]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality by E1.5.|A|G|40|38.0|Non-synonymous|Alive
5229014|IGL01136|3|86542566|Disrupted splicing|||MGI:1933162|Lrba|LPS-responsive beige-like anchor [Source:MGI Symbol;Acc:MGI:1933162]|Heterozygous||T|C|39|35.0|Splice|Alive
5229015|IGL01136|8|81952190|L->Stop||N/A|MGI:2158925|Inpp4b|inositol polyphosphate-4-phosphatase, type II [Source:MGI Symbol;Acc:MGI:2158925]|Heterozygous||T|G|37|37.0|Non-synonymous|Alive
5229016|IGL01136|8|87687960|F->L|0.99|Probably damaging|MGI:1891217|Zfp423|zinc finger protein 423 [Source:MGI Symbol;Acc:MGI:1891217]|Heterozygous||G|T|37|35.0|Non-synonymous|Alive
5229017|IGL01136|13|113346519|S->P|0.96|Probably damaging|MGI:3040697|Bc067074|cDNA sequence BC067074 [Source:MGI Symbol;Acc:MGI:3040697]|Heterozygous||T|C|36|38.5|Non-synonymous|Alive
5229018|IGL01136|18|90537077|E->G|0.65|Possibly damaging|MGI:2442418|Tmx3|thioredoxin-related transmembrane protein 3 [Source:MGI Symbol;Acc:MGI:2442418]|Heterozygous||A|G|33|37.0|Non-synonymous|Alive
5229019|IGL01136|1|9888902|M->I|0.9|Possibly damaging|MGI:2182368|Sgk3|serum/glucocorticoid regulated kinase 3 [Source:MGI Symbol;Acc:MGI:2182368]|Heterozygous|Mutations in this gene result in hair and vibrissae abnormalities due to defects in hair follicle morphogenesis.|G|A|31|37.0|Non-synonymous|Alive
5229020|IGL01136|17|32229616|T->M||Unknown|MGI:1888520|Brd4|bromodomain containing 4 [Source:MGI Symbol;Acc:MGI:1888520]|Heterozygous|Homozygotes for a gene-trap null mutation die soon after implantation. Heterozygotes exhibit impaired pre- and postnatal growth, head malformations, lack of subcutaneous fat, cataracts, and abnormal liver cells.|G|A|28|38.0|Non-synonymous|Alive
5229021|IGL01136|1|191582392|Disrupted splicing|||MGI:1924315|Ints7|integrator complex subunit 7 [Source:MGI Symbol;Acc:MGI:1924315]|Heterozygous||T|C|27|37.0|Splice|Alive
5229022|IGL01136|10|128246435|A->T|0.99|Probably damaging|MGI:1321393|Timeless|timeless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1321393]|Heterozygous|Mice homozygous for a targeted mutation exhibit early embryonic lethality at aprroximately the time of implantation.|G|A|26|30.5|Non-synonymous|Alive
5229023|IGL01136|3|95938014|S->Stop||N/A|MGI:1913721|Anp32e|acidic (leucine-rich) nuclear phosphoprotein 32 family, member E [Source:MGI Symbol;Acc:MGI:1913721]|Heterozygous|Mice homozygous for a gene trapped allele exhibit mild neurological deficits. Mice homozygous for a knock-out allele are phenotypically normal.|C|A|24|38.0|Non-synonymous|Alive
5229024|IGL01136|19|21852321|F->L|1.0|Probably damaging|MGI:1890373|Tmem2|transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1890373]|Heterozygous||T|C|23|35.0|Non-synonymous|Alive
5229025|IGL01136|7|25203592|R->L|0.97|Probably damaging|MGI:1914629|Dedd2|death effector domain-containing DNA binding protein 2 [Source:MGI Symbol;Acc:MGI:1914629]|Heterozygous||C|A|22|34.0|Non-synonymous|Alive
5229026|IGL01136|15|52333586|S->P|0.99|Probably damaging|MGI:2442682|Slc30a8|solute carrier family 30 (zinc transporter), member 8 [Source:MGI Symbol;Acc:MGI:2442682]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion.|T|C|21|38.0|Non-synonymous|Alive
5229027|IGL01136|7|64753151|Disrupted splicing|||MGI:1261791|Apba2|amyloid beta (A4) precursor protein-binding, family A, member 2 [Source:MGI Symbol;Acc:MGI:1261791]|Heterozygous|Mice homozygous for disruptions in this gene show a selective deficit in motivated approach behavior, but not in motivated avoidance behavior.|A|T|21|33.0|Splice|Alive
5229028|IGL01136|2|122190653|K->N||Benign|MGI:1921651|4933406j08rik|RIKEN cDNA 4933406J08 gene [Source:MGI Symbol;Acc:MGI:1921651]|Heterozygous||A|T|18|39.0|Non-synonymous|Alive
5229029|IGL01136|8|125760986|Disrupted splicing|||MGI:2445010|Pcnxl2|pecanex-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2445010]|Heterozygous||T|A|18|36.5|Splice|Alive
5229030|IGL01136|9|110622141|I->N|1.0|Probably damaging|MGI:1914419|Nradd|neurotrophin receptor associated death domain [Source:MGI Symbol;Acc:MGI:1914419]|Heterozygous||A|T|17|37.0|Non-synonymous|Alive
5229031|IGL01136|3|28926557|S->F||Unknown|MGI:2686373|Gm1527|predicted gene 1527 [Source:MGI Symbol;Acc:MGI:2686373]|Heterozygous||C|T|16|39.0|Non-synonymous|Alive
5229032|IGL01136|11|90657780|I->V||Benign|MGI:1919193|Tom1l1|target of myb1-like 1 (chicken) [Source:MGI Symbol;Acc:MGI:1919193]|Heterozygous||T|C|15|35.0|Non-synonymous|Alive
5229033|IGL01136|4|31988587|Disrupted splicing|||MGI:1346877|Map3k7|mitogen-activated protein kinase kinase kinase 7 [Source:MGI Symbol;Acc:MGI:1346877]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis and may have impaired vascular remodeling, edema, or an open, wavy neural tube. Mice with conditional deletion in immune cells show impaired cell development and activation.|A|T|14|39.0|Splice|Alive
5229034|IGL01136|17|63487923|I->K|1.0|Probably damaging|MGI:1354704|Fbxl17|F-box and leucine-rich repeat protein 17 [Source:MGI Symbol;Acc:MGI:1354704]|Heterozygous||A|T|13|39.0|Non-synonymous|Alive
5229035|IGL01136|5|87534014|S->N|1.0|Probably damaging|MGI:2136282|Sult1b1|sulfotransferase family 1B, member 1 [Source:MGI Symbol;Acc:MGI:2136282]|Heterozygous||C|T|11|36.0|Non-synonymous|Alive
5229630|IGL01137|16|59361972|M->R||Benign|MGI:3030043|Olfr209|olfactory receptor 209 [Source:MGI Symbol;Acc:MGI:3030043]|Heterozygous||A|C|216|39.0|Non-synonymous|Line Propagating
5229631|IGL01137|2|86657711|I->N|||MGI:3030919|Olfr1085|olfactory receptor 1085 [Source:MGI Symbol;Acc:MGI:3030919]|Heterozygous||A|T|186|38.0|Non-synonymous|Line Propagating
5229632|IGL01137|X|136526611|T->A|0.95|Possibly damaging|MGI:2652397|Kir3dl1|killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 [Source:MGI Symbol;Acc:MGI:2652397]|Heterozygous||A|G|169|38.0|Non-synonymous|Line Propagating
5229633|IGL01137|19|13028030|F->I|0.48|Possibly damaging|MGI:3031287|Olfr1453|olfactory receptor 1453 [Source:MGI Symbol;Acc:MGI:3031287]|Heterozygous||A|T|146|39.0|Non-synonymous|Line Propagating
5229634|IGL01137|6|41547817|I->T|||MGI:4835227|Trbc2|T cell receptor beta, constant 2 [Source:MGI Symbol;Acc:MGI:4835227]|Heterozygous||T|C|133|37.0|Non-synonymous|Line Propagating
5229635|IGL01137|11|78049507|Y->H|0.86|Possibly damaging|MGI:103309|Flot2|flotillin 2 [Source:MGI Symbol;Acc:MGI:103309]|Heterozygous||T|C|131|37.0|Non-synonymous|Line Propagating
5229636|IGL01137|16|66815350|T->I|1.0|Probably damaging|MGI:2442722|Cadm2|cell adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:2442722]|Heterozygous||G|A|69|39.0|Non-synonymous|Line Propagating
5229637|IGL01137|7|109329568|I->V||Benign|MGI:2152419|Stk33|serine/threonine kinase 33 [Source:MGI Symbol;Acc:MGI:2152419]|Heterozygous||T|C|68|39.0|Non-synonymous|Line Propagating
5229638|IGL01137|1|105809422|D->N|0.77|Possibly damaging|MGI:1314891|Tnfrsf11a|tumor necrosis factor receptor superfamily, member 11a [Source:MGI Symbol;Acc:MGI:1314891]|Heterozygous|Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology.|G|A|63|38.0|Non-synonymous|Line Propagating
5229639|IGL01137|15|94394611|Disrupted splicing|||MGI:2660628|Adamts20|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 [Source:MGI Symbol;Acc:MGI:2660628]|Heterozygous|Homozygous mutants have a white belt across the back in the midtrunk region and a white belly patch that coalesces to form a white belt.|C|A|63|38.0|Splice|Line Propagating
5229640|IGL01137|X|136214494|D->Y|0.94|Possibly damaging|MGI:1328321|Bex1|brain expressed gene 1 [Source:MGI Symbol;Acc:MGI:1328321]|Heterozygous|Mice homozygous for a gene trapped allele display impaired exercise performance and abnormal muscle regeneration.|C|A|62|37.0|Non-synonymous|Line Propagating
5229641|IGL01137|15|77769542|D->G|0.25|Benign|MGI:107717|Myh9|myosin, heavy polypeptide 9, non-muscle [Source:MGI Symbol;Acc:MGI:107717]|Heterozygous|Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance but no kidney or hematopoietic defects. Mice homozygous for a conditional allele activated in T cells exhibit impaired T cell migration and adhesion.|T|C|60|36.0|Non-synonymous|Line Propagating
5229642|IGL01137|7|26814259|S->G|0.74|Possibly damaging|MGI:109612|Cyp2g1|cytochrome P450, family 2, subfamily g, polypeptide 1 [Source:MGI Symbol;Acc:MGI:109612]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype.|A|G|58|36.0|Non-synonymous|Line Propagating
5229643|IGL01137|6|24556522|D->E||Benign|MGI:1926160|Asb15|ankyrin repeat and SOCS box-containing 15 [Source:MGI Symbol;Acc:MGI:1926160]|Heterozygous||T|A|57|38.0|Non-synonymous|Line Propagating
5229644|IGL01137|14|74757092|V->M|0.99|Probably damaging|MGI:2443390|Lrch1|leucine-rich repeats and calponin homology (CH) domain containing 1 [Source:MGI Symbol;Acc:MGI:2443390]|Heterozygous||C|T|54|39.0|Non-synonymous|Line Propagating
5229645|IGL01137|4|43091291|R->H|1.0|Probably damaging|MGI:1342278|Unc13b|unc-13 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:1342278]|Heterozygous|Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures.|G|A|54|39.0|Non-synonymous|Line Propagating
5229646|IGL01137|9|119137311|I->T|1.0|Probably damaging|MGI:2443671|Dlec1|deleted in lung and esophageal cancer 1 [Source:MGI Symbol;Acc:MGI:2443671]|Heterozygous||T|C|53|36.0|Non-synonymous|Line Propagating
5229647|IGL01137|8|122884336|T->A|0.94|Possibly damaging|MGI:5141853, MGI:1924337|Ankrd11,gm20388|ankyrin repeat domain 11 [Source:MGI Symbol;Acc:MGI:1924337],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous|Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.,NO_PHENOTYPE|T|C|50|36.5|Non-synonymous|Line Propagating
5229648|IGL01137|11|75469511|Y->H|0.9|Possibly damaging|MGI:1917141|Tlcd2|TLC domain containing 2 [Source:MGI Symbol;Acc:MGI:1917141]|Heterozygous||T|C|46|38.5|Non-synonymous|Line Propagating
5229649|IGL01137|4|141466367|C->Stop||N/A|MGI:107410|Zbtb17|zinc finger and BTB domain containing 17 [Source:MGI Symbol;Acc:MGI:107410]|Heterozygous|Embryonic development of homozygous null mice is severely impaired and death occurs prior to E8.5.|T|A|41|35.0|Non-synonymous|Line Propagating
5229650|IGL01137|9|24658562|T->I|0.73|Possibly damaging|MGI:2444662|Dpy19l2|dpy-19-like 2 (C. elegans) [Source:MGI Symbol;Acc:MGI:2444662]|Heterozygous||G|A|41|37.0|Non-synonymous|Line Propagating
5229651|IGL01137|5|27714488|F->S|0.64|Possibly damaging|MGI:94921|Dpp6|dipeptidylpeptidase 6 [Source:MGI Symbol;Acc:MGI:94921]|Heterozygous||T|C|38|35.0|Non-synonymous|Line Propagating
5229652|IGL01137|13|55669717|Y->Stop||N/A|MGI:1920895|Ddx46|DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 [Source:MGI Symbol;Acc:MGI:1920895]|Heterozygous||T|A|37|38.0|Non-synonymous|Line Propagating
5229653|IGL01137|1|132521297|Disrupted splicing|||MGI:104518|Cntn2|contactin 2 [Source:MGI Symbol;Acc:MGI:104518]|Heterozygous|Targeted mutation of this locus results in molecular abnormalities in the central nervous system.|T|C|35|35.0|Splice|Line Propagating
5229654|IGL01137|11|77827829|F->V|0.8|Possibly damaging|MGI:2667185|Myo18a|myosin XVIIIA [Source:MGI Symbol;Acc:MGI:2667185]|Heterozygous||T|G|32|37.0|Non-synonymous|Line Propagating
5229655|IGL01137|7|105180488|V->A|0.97|Probably damaging|MGI:3030519|Olfr685|olfactory receptor 685 [Source:MGI Symbol;Acc:MGI:3030519]|Heterozygous||A|G|32|38.0|Non-synonymous|Line Propagating
5229656|IGL01137|13|108671132|Q->L|0.33|Benign|MGI:3643406|Gm9000|predicted gene 9000 [Source:MGI Symbol;Acc:MGI:3643406]|Heterozygous||A|T|31|37.0|Non-synonymous|Line Propagating
5229657|IGL01137|15|57254278|G->V|0.95|Possibly damaging|MGI:2446114|Slc22a22|solute carrier family 22 (organic cation transporter), member 22 [Source:MGI Symbol;Acc:MGI:2446114]|Heterozygous||C|A|31|36.0|Non-synonymous|Line Propagating
5229658|IGL01137|9|104160490|Y->H|||MGI:2676368|Dnajc13|DnaJ (Hsp40) homolog, subfamily C, member 13 [Source:MGI Symbol;Acc:MGI:2676368]|Heterozygous||A|G|31|40.0|Non-synonymous|Line Propagating
5229659|IGL01137|16|38518385|H->Q|0.04|Benign|MGI:1922139|Timmdc1|translocase of inner mitochondrial membrane domain containing 1 [Source:MGI Symbol;Acc:MGI:1922139]|Heterozygous||A|T|30|38.5|Non-synonymous|Line Propagating
5229660|IGL01137|10|63152854|E->G|0.2|Benign|MGI:1916052|Mypn|myopalladin [Source:MGI Symbol;Acc:MGI:1916052]|Heterozygous||T|C|29|38.0|Non-synonymous|Line Propagating
5229661|IGL01137|6|120762028|L->V|1.0|Probably damaging|MGI:1923799|Cecr2|cat eye syndrome chromosome region, candidate 2 [Source:MGI Symbol;Acc:MGI:1923799]|Heterozygous|Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background.|T|G|27|37.0|Non-synonymous|Line Propagating
5229662|IGL01137|14|79103647|L->P|1.0|Probably damaging|MGI:1919008|Vwa8|von Willebrand factor A domain containing 8 [Source:MGI Symbol;Acc:MGI:1919008]|Heterozygous||T|C|24|37.0|Non-synonymous|Line Propagating
5229663|IGL01137|3|130007444|S->N||Benign|MGI:2139764|Sec24b|Sec24 related gene family, member B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2139764]|Heterozygous|Mice homozygous for an ENU induced mutation exhibit craniorachischisis, abnormal embryo shape, omphalocele, disoriented hair cells, and failure of eyelid fusion.|C|T|24|40.0|Non-synonymous|Line Propagating
5229664|IGL01137|14|20456580|Q->Stop||N/A|MGI:88031|Anxa7|annexin A7 [Source:MGI Symbol;Acc:MGI:88031]|Heterozygous||G|A|23|40.0|Non-synonymous|Line Propagating
5229665|IGL01137|4|141838754|V->L|1.0|Probably damaging|MGI:1923951|Ctrc|chymotrypsin C (caldecrin) [Source:MGI Symbol;Acc:MGI:1923951]|Heterozygous||C|A|21|35.0|Non-synonymous|Line Propagating
5229666|IGL01137|1|128181875|R->C|1.0|Probably damaging|MGI:2448514|R3hdm1|R3H domain containing 1 [Source:MGI Symbol;Acc:MGI:2448514]|Heterozygous||C|T|16|39.0|Non-synonymous|Line Propagating
5229667|IGL01137|11|60709999|N->K|0.27|Benign|MGI:102682|Llgl1|lethal giant larvae homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:102682]|Heterozygous|Homozygous mutant mice die neonatally exhibiting hydroencephaly. Neural progenitor cell physiology is abnormal, resulting in a loss of cell polarity and the development of neuroepithelial rosette-like structures throughout the brain.|T|A|15|37.0|Non-synonymous|Line Propagating
5229668|IGL01137|9|78205922|Y->H|0.8|Possibly damaging|MGI:1309515|Gsta4|glutathione S-transferase, alpha 4 [Source:MGI Symbol;Acc:MGI:1309515]|Heterozygous|Mice homozygous for disruptions in this gene display increased sensitivity to oxidative stress, increased alanine and aspartate transaminase levels, increased susceptibility to bacterial infection, reduced litter size, and impaired glucose tolerance.|T|C|14|39.0|Non-synonymous|Line Propagating
5230279|IGL01138|8|80701076|K->M|0.19|Benign|MGI:1935129|Smarca5|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Source:MGI Symbol;Acc:MGI:1935129]|Heterozygous|Homozygous mutant mice die during early embryonic development.|T|A|180|38.0|Non-synonymous|Line Propagating
5230280|IGL01138|4|43835617|L->P|1.0|Probably damaging|MGI:1352684|Olfr157|olfactory receptor 157 [Source:MGI Symbol;Acc:MGI:1352684]|Heterozygous||A|G|130|36.5|Non-synonymous|Line Propagating
5230281|IGL01138|11|58206144|N->S||Benign|MGI:107729|Igtp|interferon gamma induced GTPase [Source:MGI Symbol;Acc:MGI:107729]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype. They do have a severely compromised response to Toxoplasma gondii infections however|A|G|124|37.0|Non-synonymous|Line Propagating
5230282|IGL01138|17|19382623|T->S|||MGI:3644540|Vmn2r99|vomeronasal 2, receptor 99 [Source:MGI Symbol;Acc:MGI:3644540]|Heterozygous||A|T|110|38.0|Non-synonymous|Line Propagating
5230283|IGL01138|19|56355538|S->C|0.99|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||T|A|106|34.0|Non-synonymous|Line Propagating
5230284|IGL01138|17|22202668|Disrupted splicing|||MGI:3643318|Gm4944|predicted gene 4944 [Source:MGI Symbol;Acc:MGI:3643318]|Heterozygous||G|A|88|37.0|Splice|Line Propagating
5230285|IGL01138|5|113852161|Disrupted splicing|||MGI:1345964|Coro1c|coronin, actin binding protein 1C [Source:MGI Symbol;Acc:MGI:1345964]|Heterozygous||G|A|82|34.0|Splice|Line Propagating
5230286|IGL01138|12|104103744|Y->C|1.0|Probably damaging|MGI:107817|Serpina5|serine (or cysteine) peptidase inhibitor, clade A, member 5 [Source:MGI Symbol;Acc:MGI:107817]|Heterozygous|Mice homozygous for disruptions in this gene are phenotypically normal with the exception that males are infertile.|A|G|77|38.0|Non-synonymous|Line Propagating
5230287|IGL01138|12|54930325|E->G|||MGI:1309478|Baz1a|bromodomain adjacent to zinc finger domain 1A [Source:MGI Symbol;Acc:MGI:1309478]|Heterozygous||T|C|64|38.5|Non-synonymous|Line Propagating
5230288|IGL01138|17|84664847|R->S|1.0|Probably damaging|MGI:1351659|Abcg5|ATP-binding cassette, sub-family G (WHITE), member 5 [Source:MGI Symbol;Acc:MGI:1351659]|Heterozygous|Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death.|T|A|63|38.0|Non-synonymous|Line Propagating
5230289|IGL01138|2|3202620|V->A|0.02|Benign|MGI:2442917|Fam171a1|family with sequence similarity 171, member A1 [Source:MGI Symbol;Acc:MGI:2442917]|Heterozygous||T|C|58|36.0|Non-synonymous|Line Propagating
5230290|IGL01138|16|37045869|Y->F|0.2|Benign|MGI:2155399|Polq|polymerase (DNA directed), theta [Source:MGI Symbol;Acc:MGI:2155399]|Heterozygous|Animals carrying a homozygous mutation at this locus display elevated levels of chromosomal damage.|A|T|54|39.0|Non-synonymous|Line Propagating
5230291|IGL01138|9|79678053|D->G|1.0|Probably damaging|MGI:88448|Col12a1|collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]|Heterozygous||T|C|54|37.5|Non-synonymous|Line Propagating
5230292|IGL01138|5|123450156|R->W|||MGI:2141183|Mlxip|MLX interacting protein [Source:MGI Symbol;Acc:MGI:2141183]|Heterozygous||C|T|50|36.5|Non-synonymous|Line Propagating
5230293|IGL01138|8|4234084|N->S|0.3|Benign|MGI:1919517|Lrrc8e|leucine rich repeat containing 8 family, member E [Source:MGI Symbol;Acc:MGI:1919517]|Heterozygous||A|G|49|38.0|Non-synonymous|Line Propagating
5230294|IGL01138|13|60854859|V->A|0.01|Benign|MGI:1922258|4930486l24rik|RIKEN cDNA 4930486L24 gene [Source:MGI Symbol;Acc:MGI:1922258]|Heterozygous||A|G|48|39.0|Non-synonymous|Line Propagating
5230295|IGL01138|15|35446770|Disrupted splicing|||MGI:1916380|Vps13b|vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]|Heterozygous||T|C|47|38.0|Splice|Line Propagating
5230296|IGL01138|16|81517579|I->K|0.99|Probably damaging|MGI:97282|Ncam2|neural cell adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:97282]|Heterozygous|A gene trap insertion into an intron of this gene results in no obvious phenotype.|T|A|47|39.0|Non-synonymous|Line Propagating
5230297|IGL01138|X|6585203|S->P|0.99|Probably damaging|MGI:2685570|Shroom4|shroom family member 4 [Source:MGI Symbol;Acc:MGI:2685570]|Heterozygous||T|C|46|39.0|Non-synonymous|Line Propagating
5230298|IGL01138|2|26983042|S->P|1.0|Probably damaging|MGI:2685556|Adamts13|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 [Source:MGI Symbol;Acc:MGI:2685556]|Heterozygous||T|C|43|35.0|Non-synonymous|Line Propagating
5230299|IGL01138|7|16848811|S->P|0.99|Probably damaging|MGI:2141917|Prkd2|protein kinase D2 [Source:MGI Symbol;Acc:MGI:2141917]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation.|T|C|42|34.0|Non-synonymous|Line Propagating
5230300|IGL01138|1|139517212|N->K|||MGI:88379|F13b|coagulation factor XIII, beta subunit [Source:MGI Symbol;Acc:MGI:88379]|Heterozygous||T|A|41|38.0|Non-synonymous|Line Propagating
5230301|IGL01138|11|65041449|F->S|0.96|Probably damaging|MGI:2144423|Arhgap44|Rho GTPase activating protein 44 [Source:MGI Symbol;Acc:MGI:2144423]|Heterozygous||A|G|39|39.0|Non-synonymous|Line Propagating
5230302|IGL01138|2|58052695|L->M|0.95|Possibly damaging|MGI:1925017|Ermn|ermin, ERM-like protein [Source:MGI Symbol;Acc:MGI:1925017]|Heterozygous||G|T|38|39.5|Non-synonymous|Line Propagating
5230303|IGL01138|7|16945163|T->K|||MGI:3645856|Pnmal2|PNMA-like 2 [Source:MGI Symbol;Acc:MGI:3645856]|Heterozygous||C|A|35|37.0|Non-synonymous|Line Propagating
5230304|IGL01138|10|107494398|R->G|1.0|Probably damaging|MGI:97253|Myf6|myogenic factor 6 [Source:MGI Symbol;Acc:MGI:97253]|Heterozygous|Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect.|T|C|34|36.0|Non-synonymous|Line Propagating
5230305|IGL01138|7|143074569|M->L||Benign|MGI:1861718|Trpm5|transient receptor potential cation channel, subfamily M, member 5 [Source:MGI Symbol;Acc:MGI:1861718]|Heterozygous|Homozygous mutant mice demonstrate abnormal taste perception, responding to sour and salty stimuli but not to sweet, or bitter stimuli.|T|A|34|37.5|Non-synonymous|Line Propagating
5230306|IGL01138|X|56623431|D->G|1.0|Probably damaging|MGI:2443511|Slc9a6|solute carrier family 9 (sodium/hydrogen exchanger), member 6 [Source:MGI Symbol;Acc:MGI:2443511]|Heterozygous|Male mice hemizygous for a targeted mutation display hyperactivity and susceptibility to pharmacologically induced seizures.|A|G|34|37.5|Non-synonymous|Line Propagating
5230307|IGL01138|10|127184170|F->L|||MGI:1277173|Arhgef25|Rho guanine nucleotide exchange factor (GEF) 25 [Source:MGI Symbol;Acc:MGI:1277173]|Heterozygous||A|G|32|37.0|Non-synonymous|Line Propagating
5230308|IGL01138|8|95003457|C->S|1.0|Probably damaging|MGI:1340051|Gpr56|G protein-coupled receptor 56 [Source:MGI Symbol;Acc:MGI:1340051]|Heterozygous|Mice homozygous for a null allele exhibit neuronal ectopias in the frontoparietal cortex due to disruptions in the pial basement membrane.|T|A|32|37.0|Non-synonymous|Line Propagating
5230309|IGL01138|1|90807510|I->F|||MGI:88461|Col6a3|collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]|Heterozygous||T|A|25|37.0|Non-synonymous|Line Propagating
5230310|IGL01138|12|108856022|R->C|1.0|Probably damaging|MGI:2144766|Slc25a47|solute carrier family 25, member 47 [Source:MGI Symbol;Acc:MGI:2144766]|Heterozygous||C|T|24|32.0|Non-synonymous|Line Propagating
5230311|IGL01138|17|47400384|E->D||Benign|MGI:102770|Guca1a|guanylate cyclase activator 1a (retina) [Source:MGI Symbol;Acc:MGI:102770]|Heterozygous|Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function.|C|A|24|37.0|Non-synonymous|Line Propagating
5230312|IGL01138|12|69616849|Disrupted splicing|||MGI:98355|Sos2|son of sevenless homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:98355]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.|C|T|22|37.0|Splice|Line Propagating
5230313|IGL01138|2|129630165|V->A|1.0|Probably damaging|MGI:108563|Sirpa|signal-regulatory protein alpha [Source:MGI Symbol;Acc:MGI:108563]|Heterozygous|Homozygous null mice display mild thrombocytopenia, fatty livers, decreased body weight, decreased proportion of single positive T cells, enhanced peritoneal macrophage phagocytosis and impaired Langerhans cell migration.|T|C|21|39.0|Non-synonymous|Line Propagating
5230314|IGL01138|4|152106978|R->W|1.0|Probably damaging|MGI:2652860|Plekhg5|pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:MGI Symbol;Acc:MGI:2652860]|Heterozygous|Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.|C|T|21|39.0|Non-synonymous|Line Propagating
5230315|IGL01138|15|60823118|I->F|0.67|Possibly damaging|MGI:3026924|Fam84b|family with sequence similarity 84, member B [Source:MGI Symbol;Acc:MGI:3026924]|Heterozygous||T|A|20|34.5|Non-synonymous|Line Propagating
5230316|IGL01138|2|31172016|L->Q|0.02|Benign|MGI:2139054|Gpr107|G protein-coupled receptor 107 [Source:MGI Symbol;Acc:MGI:2139054]|Heterozygous||T|A|20|38.0|Non-synonymous|Line Propagating
5230317|IGL01138|2|153661441|D->V||Benign|MGI:1261819|Dnmt3b|DNA methyltransferase 3B [Source:MGI Symbol;Acc:MGI:1261819]|Heterozygous|Homozygotes for a targeted null mutation exhibit growth retardation and rostral neural tube defects, and die prenatally. Mutants exhibit slight under-methylation of endogenous viral DNA and substantial demethylation of minor satellite DNA.|A|T|20|33.0|Non-synonymous|Line Propagating
5230318|IGL01138|6|31432990|N->Y|0.94|Possibly damaging|MGI:1351638|Mkln1|muskelin 1, intracellular mediator containing kelch motifs [Source:MGI Symbol;Acc:MGI:1351638]|Heterozygous|Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation.|A|T|20|38.5|Non-synonymous|Line Propagating
5230319|IGL01138|12|40180699|L->P|0.8|Possibly damaging|MGI:2685735|Gm889|predicted gene 889 [Source:MGI Symbol;Acc:MGI:2685735]|Heterozygous||A|G|18|37.0|Non-synonymous|Line Propagating
5230320|IGL01138|3|51690558|S->P|0.82|Possibly damaging|MGI:2389461|Maml3|mastermind like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2389461]|Heterozygous||A|G|17|35.0|Non-synonymous|Line Propagating
5230321|IGL01138|6|35208084|E->Stop||N/A|MGI:2141625|Nup205|nucleoporin 205 [Source:MGI Symbol;Acc:MGI:2141625]|Heterozygous||G|T|13|37.0|Non-synonymous|Line Propagating
5230322|IGL01138|2|52111522|L->I|1.0|Probably damaging|MGI:1098622|Rif1|Rap1 interacting factor 1 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1098622]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a gene trap allele exhibit embryonic and postnatal lethality, reduced fertility, and decreased cell proliferation.|C|A|11|39.0|Non-synonymous|Line Propagating
5230916|IGL01139|3|64491405|S->P|||MGI:3649074|Vmn2r5|vomeronasal 2, receptor 5 [Source:MGI Symbol;Acc:MGI:3649074]|Heterozygous||A|G|147|37.0|Non-synonymous|Alive, Line Propagating
5230917|IGL01139|16|20214393|V->I|0.01|Benign|MGI:2447762|Yeats2|YEATS domain containing 2 [Source:MGI Symbol;Acc:MGI:2447762]|Heterozygous||G|A|144|37.0|Non-synonymous|Alive, Line Propagating
5230918|IGL01139|6|71138734|V->D|1.0|Probably damaging|MGI:3041254|Thnsl2|threonine synthase-like 2 (bacterial) [Source:MGI Symbol;Acc:MGI:3041254]|Heterozygous||A|T|69|38.0|Non-synonymous|Alive, Line Propagating
5230919|IGL01139|11|59078352|A->V|||MGI:2681862|Obscn|obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]|Heterozygous||G|A|58|35.0|Non-synonymous|Alive, Line Propagating
5230920|IGL01139|7|24925951|Disrupted splicing|||MGI:1353510|Arhgef1|Rho guanine nucleotide exchange factor (GEF) 1 [Source:MGI Symbol;Acc:MGI:1353510]|Heterozygous|Homozygous mutation of this gene results in impaired humoral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation.|T|A|56|35.0|Splice|Alive, Line Propagating
5230921|IGL01139|7|119786737|Disrupted splicing|||MGI:1918401|Eri2|exoribonuclease 2 [Source:MGI Symbol;Acc:MGI:1918401]|Heterozygous||A|G|56|36.5|Splice|Alive, Line Propagating
5230922|IGL01139|X|8246592|R->C|0.99|Probably damaging|MGI:1859648|Ftsj1|FtsJ homolog 1 (E. coli) [Source:MGI Symbol;Acc:MGI:1859648]|Heterozygous||G|A|54|37.5|Non-synonymous|Alive, Line Propagating
5230923|IGL01139|3|104005602|D->G|1.0|Probably damaging|MGI:1332671|Phtf1|putative homeodomain transcription factor 1 [Source:MGI Symbol;Acc:MGI:1332671]|Heterozygous||A|G|48|37.0|Non-synonymous|Alive, Line Propagating
5230924|IGL01139|17|33176782|Y->N|||MGI:1333751|Olfr55|olfactory receptor 55 [Source:MGI Symbol;Acc:MGI:1333751]|Heterozygous||T|A|45|35.0|Non-synonymous|Alive, Line Propagating
5230925|IGL01139|18|25066344|P->S|0.02|Benign|MGI:1925847|Fhod3|formin homology 2 domain containing 3 [Source:MGI Symbol;Acc:MGI:1925847]|Heterozygous||C|T|45|38.0|Non-synonymous|Alive, Line Propagating
5230926|IGL01139|9|54458964|P->S|1.0|Probably damaging|MGI:2444630|Dmxl2|Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630]|Heterozygous||G|A|45|37.0|Non-synonymous|Alive, Line Propagating
5230927|IGL01139|13|36730216|C->R|1.0|Probably damaging|MGI:1915654|Nrn1|neuritin 1 [Source:MGI Symbol;Acc:MGI:1915654]|Heterozygous||A|G|44|35.0|Non-synonymous|Alive, Line Propagating
5230928|IGL01139|19|16640625|D->G|0.98|Probably damaging|MGI:2444304|Vps13a|vacuolar protein sorting 13A (yeast) [Source:MGI Symbol;Acc:MGI:2444304]|Heterozygous|Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain.|T|C|44|36.5|Non-synonymous|Alive, Line Propagating
5230929|IGL01139|9|26818227|T->I|||MGI:1918143|Glb1l3|galactosidase, beta 1 like 3 [Source:MGI Symbol;Acc:MGI:1918143]|Heterozygous||G|A|43|38.0|Non-synonymous|Alive, Line Propagating
5230930|IGL01139|3|144966269|I->N|||MGI:2139744|Clca6|chloride channel calcium activated 6 [Source:MGI Symbol;Acc:MGI:2139744]|Heterozygous||A|T|42|39.0|Non-synonymous|Alive, Line Propagating
5230931|IGL01139|8|67908535|Y->N|1.0|Probably damaging|MGI:1918215|Psd3|pleckstrin and Sec7 domain containing 3 [Source:MGI Symbol;Acc:MGI:1918215]|Heterozygous||A|T|41|37.0|Non-synonymous|Alive, Line Propagating
5230932|IGL01139|11|3221143|D->E|1.0|Probably damaging|MGI:1921453|Eif4enif1|eukaryotic translation initiation factor 4E nuclear import factor 1 [Source:MGI Symbol;Acc:MGI:1921453]|Heterozygous||T|A|39|39.0|Non-synonymous|Alive, Line Propagating
5230933|IGL01139|2|85674497|Y->S|0.99|Probably damaging|MGI:3030840|Olfr1006|olfactory receptor 1006 [Source:MGI Symbol;Acc:MGI:3030840]|Heterozygous||T|G|37|38.0|Non-synonymous|Alive, Line Propagating
5230934|IGL01139|15|100424215|A->T||Unknown|MGI:3646320|Gm5475|predicted gene 5475 [Source:MGI Symbol;Acc:MGI:3646320]|Heterozygous||G|A|34|30.5|Non-synonymous|Alive, Line Propagating
5230935|IGL01139|X|13104576|Disrupted splicing|||MGI:894681|Usp9x|ubiquitin specific peptidase 9, X chromosome [Source:MGI Symbol;Acc:MGI:894681]|Heterozygous||A|G|34|40.0|Splice|Alive, Line Propagating
5230936|IGL01139|3|86642662|T->A|0.66|Possibly damaging|MGI:1933162|Lrba|LPS-responsive beige-like anchor [Source:MGI Symbol;Acc:MGI:1933162]|Heterozygous||A|G|31|39.0|Non-synonymous|Alive, Line Propagating
5230937|IGL01139|4|144777689|Y->Stop||N/A|MGI:2685284|Gm438|predicted gene 438 [Source:MGI Symbol;Acc:MGI:2685284]|Heterozygous||A|T|30|37.0|Non-synonymous|Alive, Line Propagating
5230938|IGL01139|X|74151224|M->K|0.52|Possibly damaging|MGI:2686384|Tex28|testis expressed 28 [Source:MGI Symbol;Acc:MGI:2686384]|Heterozygous||A|T|30|37.5|Non-synonymous|Alive, Line Propagating
5230939|IGL01139|5|88464517|Disrupted splicing|||MGI:104655|Ambn|ameloblastin [Source:MGI Symbol;Acc:MGI:104655]|Heterozygous|Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.|C|T|28|40.0|Splice|Alive, Line Propagating
5230940|IGL01139|12|98964545|Q->Stop||N/A|MGI:1923510|Ttc8|tetratricopeptide repeat domain 8 [Source:MGI Symbol;Acc:MGI:1923510]|Heterozygous|Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation.|C|T|27|39.0|Non-synonymous|Alive, Line Propagating
5230941|IGL01139|X|160072879|M->K|0.95|Possibly damaging|MGI:2448588|Map3k15|mitogen-activated protein kinase kinase kinase 15 [Source:MGI Symbol;Acc:MGI:2448588]|Heterozygous||T|A|27|39.0|Non-synonymous|Alive, Line Propagating
5230942|IGL01139|15|6778268|K->Q|1.0|Probably damaging|MGI:1926007|Rictor|RPTOR independent companion of MTOR, complex 2 [Source:MGI Symbol;Acc:MGI:1926007]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology.|A|C|26|39.0|Non-synonymous|Alive, Line Propagating
5230943|IGL01139|X|134950396|I->V|0.01|Benign|MGI:1933192|Nxf2|nuclear RNA export factor 2 [Source:MGI Symbol;Acc:MGI:1933192]|Heterozygous|Male mice heterogyzous for the null allele exhibit reduced fertility associated with abnormal meiosis or reduced spermatogonia proliferation depending on strain background.|T|C|26|36.5|Non-synonymous|Alive, Line Propagating
5230944|IGL01139|1|125405885|I->N|0.99|Probably damaging|MGI:1921367|Actr3|ARP3 actin-related protein 3 [Source:MGI Symbol;Acc:MGI:1921367]|Heterozygous|Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis.|A|T|25|34.0|Non-synonymous|Alive, Line Propagating
5230945|IGL01139|16|87416009|S->P||Benign|MGI:1926163|Ltn1|listerin E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:1926163]|Heterozygous|Mice homozygous for a gene trap allele display embryonic lethality. Mice homozygous for a point mutation display progressive neuron degeneration and age dependent motor deficits.|A|G|25|36.0|Non-synonymous|Alive, Line Propagating
5230946|IGL01139|2|90148545|V->E|0.2|Benign|MGI:3782398|Gm4222|predicted gene 4222 [Source:MGI Symbol;Acc:MGI:3782398]|Heterozygous||T|A|24|37.0|Non-synonymous|Alive, Line Propagating
5230947|IGL01139|6|91030097|L->H|0.55|Possibly damaging|MGI:1859555|Nup210|nucleoporin 210 [Source:MGI Symbol;Acc:MGI:1859555]|Heterozygous||A|T|22|39.0|Non-synonymous|Alive, Line Propagating
5230948|IGL01139|17|46250457|Disrupted splicing|||MGI:106280|Yipf3|Yip1 domain family, member 3 [Source:MGI Symbol;Acc:MGI:106280]|Heterozygous||G|A|20|39.0|Splice|Alive, Line Propagating
5230949|IGL01139|18|5705061|V->A|0.77|Possibly damaging|MGI:1344313|Zeb1|zinc finger E-box binding homeobox 1 [Source:MGI Symbol;Acc:MGI:1344313]|Heterozygous|Mutations at this locus affect thymus organization and homozygotes exhibit severe thymic T cell deficiency. Some mutations also exhibit extensive skeletal abnormalities. Homozygotes generally die at birth.|T|C|20|39.0|Non-synonymous|Alive, Line Propagating
5230950|IGL01139|7|44606292|D->G||Unknown|MGI:1919210|Myh14|myosin, heavy polypeptide 14 [Source:MGI Symbol;Acc:MGI:1919210]|Heterozygous||T|C|20|35.5|Non-synonymous|Alive, Line Propagating
5230952|IGL01139|5|137322842|M->I|1.0|Probably damaging|MGI:1933532|Slc12a9|solute carrier family 12 (potassium/chloride transporters), member 9 [Source:MGI Symbol;Acc:MGI:1933532]|Heterozygous||C|T|19|37.0|Non-synonymous|Alive, Line Propagating
5230953|IGL01139|4|133693997|S->R|0.55|Possibly damaging|MGI:1935147|Arid1a|AT rich interactive domain 1A (SWI-like) [Source:MGI Symbol;Acc:MGI:1935147]|Heterozygous|Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5.|A|C|18|39.5|Non-synonymous|Alive, Line Propagating
5230954|IGL01139|9|45101019|T->N|1.0|Probably damaging|MGI:2685484|Amica1|adhesion molecule, interacts with CXADR antigen 1 [Source:MGI Symbol;Acc:MGI:2685484]|Heterozygous||C|A|18|39.0|Non-synonymous|Alive, Line Propagating
5230955|IGL01139|12|57306035|Y->Stop||N/A|MGI:1920740|Mipol1|mirror-image polydactyly gene 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1920740]|Heterozygous||C|A|15|38.0|Non-synonymous|Alive, Line Propagating
5230956|IGL01139|5|90608966|T->A|||MGI:1920496|Rassf6|Ras association (RalGDS/AF-6) domain family member 6 [Source:MGI Symbol;Acc:MGI:1920496]|Heterozygous||T|C|15|34.0|Non-synonymous|Alive, Line Propagating
5230957|IGL01139|9|103223604|V->D|1.0|Probably damaging|MGI:98821, MGI:5141890|Trf,gm20425|transferrin [Source:MGI Symbol;Acc:MGI:98821],predicted gene 20425 [Source:MGI Symbol;Acc:MGI:5141890]|Heterozygous|Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores.,NO_PHENOTYPE|A|T|13|35.0|Non-synonymous|Alive, Line Propagating
5230958|IGL01139|14|7945989|S->G|0.58|Possibly damaging|MGI:2446089|Flnb|filamin, beta [Source:MGI Symbol;Acc:MGI:2446089]|Heterozygous|Mouse homozygous for disruption of coding region due to a gene trapped vector exhibit partial prenatal and postnatal lethality, alteration in skeletal system including fusion of vertebrae and other skeletal elements.|A|G|12|31.5|Non-synonymous|Alive, Line Propagating
5230959|IGL01139|7|81595914|L->P|1.0|Probably damaging|MGI:2142282|Whamm|WAS protein homolog associated with actin, golgi membranes and microtubules [Source:MGI Symbol;Acc:MGI:2142282]|Heterozygous||T|C|12|37.0|Non-synonymous|Alive, Line Propagating
5230960|IGL01139|8|13319887|R->Q|0.79|Possibly damaging|MGI:2444946|Tmco3|transmembrane and coiled-coil domains 3 [Source:MGI Symbol;Acc:MGI:2444946]|Heterozygous||G|A|12|37.5|Non-synonymous|Alive, Line Propagating
5230961|IGL01139|14|45343710|T->I|0.18|Benign|MGI:1914339|Psmc6|proteasome (prosome, macropain) 26S subunit, ATPase, 6 [Source:MGI Symbol;Acc:MGI:1914339]|Heterozygous||C|T|10|38.0|Non-synonymous|Alive, Line Propagating
5230962|IGL01139|5|111421449|D->G|0.89|Possibly damaging|MGI:1261813|Mn1|meningioma 1 [Source:MGI Symbol;Acc:MGI:1261813]|Heterozygous|Homozygous null mice die shortly after birth due to cleft palate. Development of several bones in the skull was abnormal with completely absent alisphenoid, squamosal, and vomer bones, hypoplastic basisphenoid, pterygoid, and presphenoid bones, and thin frontal, parietal, and interparietal bones.|A|G|10|36.0|Non-synonymous|Alive, Line Propagating
5231578|IGL01140|2|75979915|V->A||Benign|MGI:1926052|Ttc30a1|tetratricopeptide repeat domain 30A1 [Source:MGI Symbol;Acc:MGI:1926052]|Heterozygous||A|G|190|39.0|Non-synonymous|Line Propagating
5231579|IGL01140|19|13479787|T->I|0.77|Possibly damaging|MGI:3031309|Olfr1475|olfactory receptor 1475 [Source:MGI Symbol;Acc:MGI:3031309]|Heterozygous||G|A|148|38.0|Non-synonymous|Line Propagating
5231580|IGL01140|2|85430140|T->A||Benign|MGI:3030828|Olfr994|olfactory receptor 994 [Source:MGI Symbol;Acc:MGI:3030828]|Heterozygous||T|C|120|38.0|Non-synonymous|Line Propagating
5231581|IGL01140|12|21206316|V->A|0.84|Possibly damaging|MGI:2685438|Asap2|ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:2685438]|Heterozygous||T|C|109|37.0|Non-synonymous|Line Propagating
5231582|IGL01140|7|85565171|Q->Stop||N/A|MGI:3761314|Vmn2r70|vomeronasal 2, receptor 70 [Source:MGI Symbol;Acc:MGI:3761314]|Heterozygous||G|A|97|39.0|Non-synonymous|Line Propagating
5231583|IGL01140|15|59651627|Y->C|1.0|Probably damaging|MGI:2443397|Trib1|tribbles homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2443397]|Heterozygous|Macrophages from mice homozygous for a knock-out allele exhibit impaired IL12 response to LPS, MALP-1, or CpG DNA.|A|G|91|35.0|Non-synonymous|Line Propagating
5231584|IGL01140|2|83915328|S->P|0.01|Benign|MGI:1919111|Zswim2|zinc finger, SWIM domain containing 2 [Source:MGI Symbol;Acc:MGI:1919111]|Heterozygous||A|G|84|39.0|Non-synonymous|Line Propagating
5231585|IGL01140|5|90524867|E->G|0.99|Probably damaging|MGI:2429409|Afm|afamin [Source:MGI Symbol;Acc:MGI:2429409]|Heterozygous||A|G|79|38.0|Non-synonymous|Line Propagating
5231586|IGL01140|12|105809597|C->Stop||N/A|MGI:109301|Papola|poly (A) polymerase alpha [Source:MGI Symbol;Acc:MGI:109301]|Heterozygous||C|A|77|40.0|Non-synonymous|Line Propagating
5231587|IGL01140|6|113789971|V->I|0.87|Possibly damaging|MGI:105368|Atp2b2|ATPase, Ca++ transporting, plasma membrane 2 [Source:MGI Symbol;Acc:MGI:105368]|Heterozygous|Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss.|C|T|64|39.0|Non-synonymous|Line Propagating
5231588|IGL01140|18|34636332|Y->H|0.04|Benign|MGI:1098815|Cdc23|CDC23 cell division cycle 23 [Source:MGI Symbol;Acc:MGI:1098815]|Heterozygous||A|G|56|37.0|Non-synonymous|Line Propagating
5231589|IGL01140|11|49634943|E->Stop||N/A|MGI:95561|Flt4|FMS-like tyrosine kinase 4 [Source:MGI Symbol;Acc:MGI:95561]|Heterozygous|Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphatic vessels, and lymphedema.|G|T|53|35.0|Non-synonymous|Line Propagating
5231590|IGL01140|6|34762261|S->T|0.48|Possibly damaging|MGI:88250|Cald1|caldesmon 1 [Source:MGI Symbol;Acc:MGI:88250]|Heterozygous|Some homozygous mutant mice develop hernia and those that do, die within 5-7 hours after birth.|T|A|53|38.0|Non-synonymous|Line Propagating
5231591|IGL01140|19|39018649|L->P||Benign|MGI:1919332|Cyp2c55|cytochrome P450, family 2, subfamily c, polypeptide 55 [Source:MGI Symbol;Acc:MGI:1919332]|Heterozygous||T|C|49|39.0|Non-synonymous|Line Propagating
5231592|IGL01140|14|50320275|I->F|0.76|Possibly damaging|MGI:3030568|Olfr734|olfactory receptor 734 [Source:MGI Symbol;Acc:MGI:3030568]|Heterozygous||T|A|48|39.0|Non-synonymous|Line Propagating
5231593|IGL01140|6|121882734|T->A|0.03|Benign|MGI:99837|Mug1|murinoglobulin 1 [Source:MGI Symbol;Acc:MGI:99837]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and phenotypically normal under standard conditions but show increased mortality in response to diet-induced acute pancreatitis along with hepatic cell necrosis and inflammatory infiltration, and increased plasma amylase and lipase levels.|A|G|48|37.5|Non-synonymous|Line Propagating
5231594|IGL01140|15|57263338|T->A|1.0|Probably damaging|MGI:2446114|Slc22a22|solute carrier family 22 (organic cation transporter), member 22 [Source:MGI Symbol;Acc:MGI:2446114]|Heterozygous||T|C|47|39.0|Non-synonymous|Line Propagating
5231595|IGL01140|15|99082146|Q->H|1.0|Probably damaging|MGI:1925983|Troap|trophinin associated protein [Source:MGI Symbol;Acc:MGI:1925983]|Heterozygous||G|T|47|38.0|Non-synonymous|Line Propagating
5231596|IGL01140|11|69329879|K->R||Benign|MGI:1336208|Kcnab3|potassium voltage-gated channel, shaker-related subfamily, beta member 3 [Source:MGI Symbol;Acc:MGI:1336208]|Heterozygous||A|G|44|39.0|Non-synonymous|Line Propagating
5231597|IGL01140|7|35547911|Stop->Q||N/A|MGI:94203|Nudt19|nudix (nucleoside diphosphate linked moiety X)-type motif 19 [Source:MGI Symbol;Acc:MGI:94203]|Heterozygous||A|G|43|37.0|Non-synonymous|Line Propagating
5231598|IGL01140|15|91899399|E->D|0.98|Probably damaging|MGI:2676278|Muc19|mucin 19 [Source:MGI Symbol;Acc:MGI:2676278]|Heterozygous||A|T|40|35.0|Non-synonymous|Line Propagating
5231599|IGL01140|1|75489756|Disrupted splicing|||MGI:2138628|Obsl1|obscurin-like 1 [Source:MGI Symbol;Acc:MGI:2138628]|Heterozygous||T|A|39|37.0|Splice|Line Propagating
5231600|IGL01140|3|28078237|L->I|0.01|Benign|MGI:109585|Pld1|phospholipase D1 [Source:MGI Symbol;Acc:MGI:109585]|Heterozygous||C|A|39|38.0|Non-synonymous|Line Propagating
5231601|IGL01140|3|146427843|Y->C|0.01|Benign|MGI:2139150|Ssx2ip|synovial sarcoma, X breakpoint 2 interacting protein [Source:MGI Symbol;Acc:MGI:2139150]|Heterozygous||A|G|37|39.0|Non-synonymous|Line Propagating
5231602|IGL01140|1|87774853|I->V||Benign|MGI:1924290|Atg16l1|autophagy related 16-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1924290]|Heterozygous|Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorph alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease.|A|G|36|38.0|Non-synonymous|Line Propagating
5231603|IGL01140|1|87823364|E->G|0.02|Benign|MGI:98227|Sag|retinal S-antigen [Source:MGI Symbol;Acc:MGI:98227]|Heterozygous||A|G|36|37.0|Non-synonymous|Line Propagating
5231604|IGL01140|7|12891022|Y->C||Benign|MGI:2389445|Zfp128|zinc finger protein 128 [Source:MGI Symbol;Acc:MGI:2389445]|Heterozygous||A|G|34|35.5|Non-synonymous|Line Propagating
5231605|IGL01140|8|57958322|R->S|||MGI:3530896, MGI:3512172, MGI:2680362, MGI:3040399, MGI:3527051, MGI:3527050, MGI:3527052|Ac116875.1|polypeptide N-acetylgalactosaminyltransferase-like 6 [Source:RefSeq peptide;Acc:NP_778197]|Heterozygous||T|A|33|37.0|Non-synonymous|Line Propagating
5231606|IGL01140|8|110398062|V->I|0.02|Benign|MGI:2389007|Hydin|HYDIN, axonemal central pair apparatus protein [Source:MGI Symbol;Acc:MGI:2389007]|Heterozygous|Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.|G|A|33|37.0|Non-synonymous|Line Propagating
5231607|IGL01140|11|93924432|E->G|0.99|Probably damaging|MGI:2143977|Mbtd1|mbt domain containing 1 [Source:MGI Symbol;Acc:MGI:2143977]|Heterozygous||A|G|27|37.0|Non-synonymous|Line Propagating
5231608|IGL01140|13|104236234|Disrupted splicing|||MGI:1926210|Cenpk|centromere protein K [Source:MGI Symbol;Acc:MGI:1926210]|Heterozygous||T|A|26|38.0|Splice|Line Propagating
5231609|IGL01140|2|127531205|Disrupted splicing|||MGI:2138997|Prom2|prominin 2 [Source:MGI Symbol;Acc:MGI:2138997]|Heterozygous||T|C|26|37.5|Splice|Line Propagating
5231610|IGL01140|2|90700565|M->I|0.9|Possibly damaging|MGI:1926227|Nup160|nucleoporin 160 [Source:MGI Symbol;Acc:MGI:1926227]|Heterozygous||G|T|25|39.0|Non-synonymous|Line Propagating
5231611|IGL01140|3|138156698|Disrupted splicing|||MGI:1920421|Trmt10a|tRNA methyltransferase 10 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1920421]|Heterozygous||G|A|25|37.0|Splice|Line Propagating
5231612|IGL01140|3|95538725|E->G|1.0|Probably damaging|MGI:107341|Ctss|cathepsin S [Source:MGI Symbol;Acc:MGI:107341]|Heterozygous|Homozygous null mice are resistant to the development of experimental autoimmune myasthenia gravis and showed reduced T and B cell responses to acetylcholine receptor.|A|G|21|39.0|Non-synonymous|Line Propagating
5231613|IGL01140|17|67802933|V->A|||MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|T|C|20|35.0|Non-synonymous|Line Propagating
5231614|IGL01140|4|127049642|F->L|0.96|Probably damaging|MGI:1915560|Zmym1|zinc finger, MYM domain containing 1 [Source:MGI Symbol;Acc:MGI:1915560]|Heterozygous||A|G|20|33.5|Non-synonymous|Line Propagating
5231615|IGL01140|7|131311794|C->S|1.0|Probably damaging|MGI:1202881|Cuzd1|CUB and zona pellucida-like domains 1 [Source:MGI Symbol;Acc:MGI:1202881]|Heterozygous|Mice homozygous for disruption of this gene have a normal phenotype. However, they show an increased sesceptibility to induced pancreatitis.|A|T|20|39.0|Non-synonymous|Line Propagating
5231616|IGL01140|10|40076925|Y->C|1.0|Probably damaging|MGI:1919722|Slc16a10|solute carrier family 16 (monocarboxylic acid transporters), member 10 [Source:MGI Symbol;Acc:MGI:1919722]|Heterozygous||T|C|19|37.0|Non-synonymous|Line Propagating
5231617|IGL01140|17|32629053|S->P|0.03|Benign|MGI:3780112|Gm9705|predicted gene 9705 [Source:MGI Symbol;Acc:MGI:3780112]|Heterozygous||T|C|19|38.0|Non-synonymous|Line Propagating
5231618|IGL01140|7|19523462|T->A|||MGI:1916797|Nkpd1|NTPase, KAP family P-loop domain containing 1 [Source:MGI Symbol;Acc:MGI:1916797]|Heterozygous||A|G|19|33.0|Non-synonymous|Line Propagating
5231619|IGL01140|14|22596517|A->V||Benign|MGI:1923883|1700112e06rik|RIKEN cDNA 1700112E06 gene [Source:MGI Symbol;Acc:MGI:1923883]|Heterozygous||C|T|18|37.5|Non-synonymous|Line Propagating
5231620|IGL01140|9|115176002|P->S||Benign|MGI:1921736|Osbpl10|oxysterol binding protein-like 10 [Source:MGI Symbol;Acc:MGI:1921736]|Heterozygous||C|T|17|34.0|Non-synonymous|Line Propagating
5231621|IGL01140|14|54617807|T->I|0.68|Possibly damaging|MGI:1194513|Psmb5|proteasome (prosome, macropain) subunit, beta type 5 [Source:MGI Symbol;Acc:MGI:1194513]|Heterozygous||G|A|11|35.0|Non-synonymous|Line Propagating
5232213|IGL01141|16|36308064|E->G|||MGI:3648404|Gm4758|predicted gene 4758 [Source:MGI Symbol;Acc:MGI:3648404]|Heterozygous||A|G|202|37.0|Non-synonymous|Alive, Line Propagating
5232214|IGL01141|6|121870499|N->S||Benign|MGI:99837|Mug1|murinoglobulin 1 [Source:MGI Symbol;Acc:MGI:99837]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and phenotypically normal under standard conditions but show increased mortality in response to diet-induced acute pancreatitis along with hepatic cell necrosis and inflammatory infiltration, and increased plasma amylase and lipase levels.|A|G|184|37.5|Non-synonymous|Alive, Line Propagating
5232215|IGL01141|7|107990551|F->S|1.0|Probably damaging|MGI:3030311|Olfr477|olfactory receptor 477 [Source:MGI Symbol;Acc:MGI:3030311]|Heterozygous||T|C|146|38.0|Non-synonymous|Alive, Line Propagating
5232216|IGL01141|2|65495113|N->S|0.41|Benign|MGI:98249|Scn3a|sodium channel, voltage-gated, type III, alpha [Source:MGI Symbol;Acc:MGI:98249]|Heterozygous|Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance.|T|C|96|38.0|Non-synonymous|Alive, Line Propagating
5232217|IGL01141|10|129722945|I->L||Benign|MGI:3030639|Olfr805|olfactory receptor 805 [Source:MGI Symbol;Acc:MGI:3030639]|Heterozygous||T|A|91|37.0|Non-synonymous|Alive, Line Propagating
5232218|IGL01141|11|77449726|E->G|1.0|Probably damaging|MGI:2679255|Ssh2|slingshot homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2679255]|Heterozygous||A|G|76|38.5|Non-synonymous|Alive, Line Propagating
5232219|IGL01141|19|60851014|E->G|0.72|Possibly damaging|MGI:2137680|Sfxn4|sideroflexin 4 [Source:MGI Symbol;Acc:MGI:2137680]|Heterozygous||T|C|76|36.5|Non-synonymous|Alive, Line Propagating
5232220|IGL01141|12|83951794|Q->R|1.0|Probably damaging|MGI:1919202|2410016o06rik|RIKEN cDNA 2410016O06 gene [Source:MGI Symbol;Acc:MGI:1919202]|Heterozygous||A|G|71|37.0|Non-synonymous|Alive, Line Propagating
5232221|IGL01141|9|111219715|R->W|1.0|Probably damaging|MGI:1918518|Lrrfip2|leucine rich repeat (in FLII) interacting protein 2 [Source:MGI Symbol;Acc:MGI:1918518]|Heterozygous||C|T|68|38.0|Non-synonymous|Alive, Line Propagating
5232222|IGL01141|11|20308644|Disrupted splicing|||MGI:2135601|Slc1a4|solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 [Source:MGI Symbol;Acc:MGI:2135601]|Heterozygous||A|T|63|39.0|Splice|Alive, Line Propagating
5232223|IGL01141|6|134621785|L->F|0.09|Benign|MGI:1914979|Mansc1|MANSC domain containing 1 [Source:MGI Symbol;Acc:MGI:1914979]|Heterozygous||C|A|59|39.0|Non-synonymous|Alive, Line Propagating
5232224|IGL01141|13|112989027|D->G|1.0|Probably damaging|MGI:2145534|Ccno|cyclin O [Source:MGI Symbol;Acc:MGI:2145534]|Heterozygous||A|G|57|37.0|Non-synonymous|Alive, Line Propagating
5232225|IGL01141|11|46237699|I->T|0.04|Benign|MGI:2443410, MGI:1924134|Fndc9,cyfip2|cytoplasmic FMR1 interacting protein 2 [Source:MGI Symbol;Acc:MGI:1924134],fibronectin type III domain containing 9 [Source:MGI Symbol;Acc:MGI:2443410]|Heterozygous||T|C|56|37.0|Non-synonymous|Alive, Line Propagating
5232226|IGL01141|10|80835313|P->Q|1.0|Probably damaging|MGI:3609246|Lingo3|leucine rich repeat and Ig domain containing 3 [Source:MGI Symbol;Acc:MGI:3609246]|Heterozygous||G|T|54|35.0|Non-synonymous|Alive, Line Propagating
5232227|IGL01141|2|155709028|Y->H|1.0|Probably damaging|MGI:1915540|Edem2|ER degradation enhancer, mannosidase alpha-like 2 [Source:MGI Symbol;Acc:MGI:1915540]|Heterozygous||A|G|54|37.0|Non-synonymous|Alive, Line Propagating
5232228|IGL01141|11|105886474|Disrupted splicing|||MGI:2444121|Tanc2|tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:MGI Symbol;Acc:MGI:2444121]|Heterozygous|Mice homozygous for a gene trap vector die prior to E12.|A|G|51|40.0|Splice|Alive, Line Propagating
5232229|IGL01141|13|99434761|I->T|1.0|Probably damaging|MGI:1306778|Mtap1b|microtubule-associated protein 1B [Source:MGI Symbol;Acc:MGI:1306778]|Heterozygous|Mice homozygous for one knock-out allele die prior to E8.5. While mice homozygous for other knock-out alleles exhibit behavioral, visual system, and nervous system defects.|A|G|48|37.0|Non-synonymous|Alive, Line Propagating
5232230|IGL01141|7|48448027|T->P|0.05|Benign|MGI:3033115|Mrgprb1|MAS-related GPR, member B1 [Source:MGI Symbol;Acc:MGI:3033115]|Heterozygous||T|G|47|34.0|Non-synonymous|Alive, Line Propagating
5232231|IGL01141|11|72982665|I->T|1.0|Probably damaging|MGI:1194503|Atp2a3|ATPase, Ca++ transporting, ubiquitous [Source:MGI Symbol;Acc:MGI:1194503]|Heterozygous|Homozygous mutation of this gene results in reduced endothelial-dependent relaxation in the aorta.|T|C|44|39.0|Non-synonymous|Alive, Line Propagating
5232232|IGL01141|10|89640635|V->A||Benign|MGI:1289172|Scyl2|SCY1-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1289172]|Heterozygous||A|G|42|37.0|Non-synonymous|Alive, Line Propagating
5232233|IGL01141|3|154714016|K->R||Benign|MGI:1919095|4922501l14rik|RIKEN cDNA 4922501L14 gene [Source:MGI Symbol;Acc:MGI:1919095]|Heterozygous||A|G|41|39.0|Non-synonymous|Alive, Line Propagating
5232234|IGL01141|16|16869087|M->V||Benign|MGI:98936|Vpreb1|pre-B lymphocyte gene 1 [Source:MGI Symbol;Acc:MGI:98936]|Heterozygous|Homozygous null mutants have fewer cells with functional pre-B cell receptors. Double knockouts homozygous for null mutations at Vpreb1 and Vpreb2 show impaired B-cell development. Fewer B-cells are found in bone marrow, spleen and peritoneum.|T|C|39|38.0|Non-synonymous|Alive, Line Propagating
5232235|IGL01141|15|58909567|Disrupted splicing|||MGI:1916944|Tatdn1|TatD DNase domain containing 1 [Source:MGI Symbol;Acc:MGI:1916944]|Heterozygous||A|T|34|40.0|Splice|Alive, Line Propagating
5232236|IGL01141|9|53853500|I->V||Benign|MGI:1913652|Sln|sarcolipin [Source:MGI Symbol;Acc:MGI:1913652]|Heterozygous|Mice homozygous for a null allele exhibit increased cardiac contractility.|A|G|34|37.0|Non-synonymous|Alive, Line Propagating
5232237|IGL01141|9|56258527|F->L|0.04|Benign|MGI:2442366|C230081a13rik|RIKEN cDNA C230081A13 gene [Source:MGI Symbol;Acc:MGI:2442366]|Heterozygous||A|G|34|37.0|Non-synonymous|Alive, Line Propagating
5232238|IGL01141|17|26190041|E->K|1.0|Probably damaging|MGI:1096327|Axin1|axin 1 [Source:MGI Symbol;Acc:MGI:1096327]|Heterozygous|Mutant homozygotes die at embryonic day 8-10, exhibiting neuroectodermal defects and axial duplications. Heterozygotes exhibit skeletal, cardiac, and neurological defects including short, bent tails, and deafness with circling behavior.|G|A|32|37.0|Non-synonymous|Alive, Line Propagating
5232239|IGL01141|11|101178807|Disrupted splicing|||MGI:1858201|Cntnap1|contactin associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1858201]|Heterozygous|Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and and ataxia.|G|A|31|37.0|Splice|Alive, Line Propagating
5232240|IGL01141|11|100386249|D->E||Benign|MGI:96650|Jup|junction plakoglobin [Source:MGI Symbol;Acc:MGI:96650]|Heterozygous|Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes.|A|T|28|37.5|Non-synonymous|Alive, Line Propagating
5232241|IGL01141|11|109937730|D->E|1.0|Probably damaging|MGI:1351668|Abca8b|ATP-binding cassette, sub-family A (ABC1), member 8b [Source:MGI Symbol;Acc:MGI:1351668]|Heterozygous||A|T|28|33.5|Non-synonymous|Alive, Line Propagating
5232242|IGL01141|5|21969033|F->C|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|A|C|28|40.0|Non-synonymous|Alive, Line Propagating
5232243|IGL01141|16|15726704|T->A|0.27|Benign|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|A|G|26|39.0|Non-synonymous|Alive, Line Propagating
5232244|IGL01141|7|56212841|V->A|0.15|Benign|MGI:103234|Herc2|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2 [Source:MGI Symbol;Acc:MGI:103234]|Heterozygous|Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.|T|C|26|38.0|Non-synonymous|Alive, Line Propagating
5232245|IGL01141|10|94788757|T->K|0.09|Benign|MGI:1924298|Ccdc41|coiled-coil domain containing 41 [Source:MGI Symbol;Acc:MGI:1924298]|Heterozygous||C|A|25|39.0|Non-synonymous|Alive, Line Propagating
5232246|IGL01141|5|21919069|P->Q|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|G|T|24|35.0|Non-synonymous|Alive, Line Propagating
5232247|IGL01141|6|6956141|F->I|1.0|Probably damaging|MGI:1913288|Acn9|ACN9 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913288]|Heterozygous||T|A|23|37.0|Non-synonymous|Alive, Line Propagating
5232248|IGL01141|5|31518435|P->S|1.0|Probably damaging|MGI:1919445|Supt7l|suppressor of Ty 7 (S. cerevisiae)-like [Source:MGI Symbol;Acc:MGI:1919445]|Heterozygous||G|A|22|40.0|Non-synonymous|Alive, Line Propagating
5232249|IGL01141|19|12462785|F->I|0.92|Possibly damaging|MGI:1333743|Mpeg1|macrophage expressed gene 1 [Source:MGI Symbol;Acc:MGI:1333743]|Heterozygous||T|A|21|38.0|Non-synonymous|Alive, Line Propagating
5232250|IGL01141|6|91782897|Q->K|||MGI:2681173|Grip2|glutamate receptor interacting protein 2 [Source:MGI Symbol;Acc:MGI:2681173]|Heterozygous||G|T|21|37.0|Non-synonymous|Alive, Line Propagating
5232251|IGL01141|8|94649855|V->A||Benign|MGI:1914860|Rspry1|ring finger and SPRY domain containing 1 [Source:MGI Symbol;Acc:MGI:1914860]|Heterozygous||T|C|20|37.0|Non-synonymous|Alive, Line Propagating
5232252|IGL01141|5|112329503|P->L|0.31|Benign|MGI:1930075|Tfip11|tuftelin interacting protein 11 [Source:MGI Symbol;Acc:MGI:1930075]|Heterozygous||C|T|19|39.0|Non-synonymous|Alive, Line Propagating
5232253|IGL01141|2|121362993|I->F|0.88|Possibly damaging|MGI:99441|Ckmt1|creatine kinase, mitochondrial 1, ubiquitous [Source:MGI Symbol;Acc:MGI:99441]|Heterozygous|Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition.|A|T|18|39.5|Non-synonymous|Alive, Line Propagating
5232254|IGL01141|2|24441150|S->P|1.0|Probably damaging|MGI:97492|Pax8|paired box gene 8 [Source:MGI Symbol;Acc:MGI:97492]|Heterozygous|Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.|A|G|11|35.0|Non-synonymous|Alive, Line Propagating
5233454|IGL01143|13|64920816|Y->Stop||N/A|MGI:1925374|Spata31|spermatogenesis associated 31 [Source:MGI Symbol;Acc:MGI:1925374]|Heterozygous||T|G|153|39.0|Non-synonymous|Line Propagating
5233455|IGL01143|17|20462465|A->S|0.16|Benign|MGI:3643822|Vmn2r108|vomeronasal 2, receptor 108 [Source:MGI Symbol;Acc:MGI:3643822]|Heterozygous||C|A|151|39.0|Non-synonymous|Line Propagating
5233456|IGL01143|4|120698623|D->A|1.0|Probably damaging|MGI:1926803|Kcnq4|potassium voltage-gated channel, subfamily Q, member 4 [Source:MGI Symbol;Acc:MGI:1926803]|Heterozygous||T|G|124|36.0|Non-synonymous|Line Propagating
5233457|IGL01143|14|73238637|D->N|0.99|Probably damaging|MGI:1914418, MGI:97874|Lpar6,rb1|lysophosphatidic acid receptor 6 [Source:MGI Symbol;Acc:MGI:1914418],retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.,NO_PHENOTYPE|G|A|105|38.0|Non-synonymous|Line Propagating
5233458|IGL01143|8|93271830|Disrupted splicing|||MGI:2142687|Ces1f|carboxylesterase 1F [Source:MGI Symbol;Acc:MGI:2142687]|Heterozygous||C|T|99|39.0|Splice|Line Propagating
5233459|IGL01143|3|151500229|Disrupted splicing|||MGI:2655562|Eltd1|EGF, latrophilin seven transmembrane domain containing 1 [Source:MGI Symbol;Acc:MGI:2655562]|Heterozygous||A|G|88|39.0|Splice|Line Propagating
5233460|IGL01143|8|75058457|T->A|0.1|Benign|MGI:1338026|Tom1|target of myb1 homolog (chicken) [Source:MGI Symbol;Acc:MGI:1338026]|Heterozygous||A|G|74|39.0|Non-synonymous|Line Propagating
5233461|IGL01143|12|118012740|D->V|1.0|Probably damaging|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|T|A|68|36.0|Non-synonymous|Line Propagating
5233462|IGL01143|9|38473042|M->I|||MGI:3030739|Olfr905|olfactory receptor 905 [Source:MGI Symbol;Acc:MGI:3030739]|Heterozygous||G|T|65|38.0|Non-synonymous|Line Propagating
5233463|IGL01143|1|182747852|L->Q|0.99|Probably damaging|MGI:3618292|4922505e12rik|RIKEN cDNA 4922505E12 gene [Source:MGI Symbol;Acc:MGI:3618292]|Heterozygous||A|T|59|36.0|Non-synonymous|Line Propagating
5233464|IGL01143|16|87957600|Disrupted splicing|||MGI:95814|Grik1|glutamate receptor, ionotropic, kainate 1 [Source:MGI Symbol;Acc:MGI:95814]|Heterozygous|Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced.|G|T|59|37.0|Splice|Line Propagating
5233465|IGL01143|14|66089522|R->Q|1.0|Probably damaging|MGI:99500|Ephx2|epoxide hydrolase 2, cytoplasmic [Source:MGI Symbol;Acc:MGI:99500]|Heterozygous|Males homozygous for a targeted null mutation display a significant reduction in blood pressure both in the absence and presence of dietary salt loading. Both sexes exhibit altered arachidonic acid metabolism and reduced renal formation of epoxyeicosatrienoic and dihydroxyeicosatrienoic acids.|C|T|57|37.0|Non-synonymous|Line Propagating
5233466|IGL01143|2|172879482|H->N||Benign|MGI:103302|Bmp7|bone morphogenetic protein 7 [Source:MGI Symbol;Acc:MGI:103302]|Heterozygous|Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects.|G|T|55|35.0|Non-synonymous|Line Propagating
5233467|IGL01143|6|82729552|I->V|0.99|Probably damaging|MGI:1315197|Hk2|hexokinase 2 [Source:MGI Symbol;Acc:MGI:1315197]|Heterozygous|Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet.|T|C|53|38.0|Non-synonymous|Line Propagating
5233468|IGL01143|12|76564982|Disrupted splicing|||MGI:2388284|Plekhg3|pleckstrin homology domain containing, family G (with RhoGef domain) member 3 [Source:MGI Symbol;Acc:MGI:2388284]|Heterozygous||T|C|49|34.0|Splice|Line Propagating
5233469|IGL01143|13|81419351|D->E||Benign|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|A|C|49|38.0|Non-synonymous|Line Propagating
5233470|IGL01143|16|90951976|E->G|1.0|Probably damaging|MGI:1354961|Synj1|synaptojanin 1 [Source:MGI Symbol;Acc:MGI:1354961]|Heterozygous|Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth.|T|C|47|36.0|Non-synonymous|Line Propagating
5233471|IGL01143|8|45035532|T->K|0.32|Benign|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|C|A|47|37.0|Non-synonymous|Line Propagating
5233472|IGL01143|12|35132160|D->G|||MGI:2661416|Snx13|sorting nexin 13 [Source:MGI Symbol;Acc:MGI:2661416]|Heterozygous|Homozygous null mice are growth retarded and die at midgestation with defects in neural tube closure, vasculogenesis and placental development. Mutant visceral yolk sac endoderm cells exhibit altered endocytic compartments, abundant autophagic vacuoles and mislocalization of endocytic markers.|A|G|42|37.0|Non-synonymous|Line Propagating
5233473|IGL01143|18|84677317|Disrupted splicing|||MGI:1913304|Cndp2|CNDP dipeptidase 2 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:1913304]|Heterozygous||A|G|40|35.0|Splice|Line Propagating
5233474|IGL01143|4|109442813|Disrupted splicing|||MGI:2444350|Ttc39a|tetratricopeptide repeat domain 39A [Source:MGI Symbol;Acc:MGI:2444350]|Heterozygous||T|C|39|37.0|Splice|Line Propagating
5233475|IGL01143|4|155092304|Y->H|1.0|Probably damaging|MGI:1924116|Morn1|MORN repeat containing 1 [Source:MGI Symbol;Acc:MGI:1924116]|Heterozygous||T|C|38|35.0|Non-synonymous|Line Propagating
5233476|IGL01143|2|87753934|N->D||Benign|MGI:3030975|Olfr1141|olfactory receptor 1141 [Source:MGI Symbol;Acc:MGI:3030975]|Heterozygous||T|C|36|38.0|Non-synonymous|Line Propagating
5233477|IGL01143|2|92366339|Y->C|0.56|Possibly damaging|MGI:2443769|Gyltl1b|glycosyltransferase-like 1B [Source:MGI Symbol;Acc:MGI:2443769]|Heterozygous||T|C|36|33.0|Non-synonymous|Line Propagating
5233478|IGL01143|3|99939298|D->G|||MGI:1921612|Spag17|sperm associated antigen 17 [Source:MGI Symbol;Acc:MGI:1921612]|Heterozygous||A|G|35|37.0|Non-synonymous|Line Propagating
5233479|IGL01143|5|134196553|T->A|0.99|Probably damaging|MGI:2149780|Gtf2ird2|GTF2I repeat domain containing 2 [Source:MGI Symbol;Acc:MGI:2149780]|Heterozygous||A|G|35|36.0|Non-synonymous|Line Propagating
5233480|IGL01143|1|16769948|D->G|||MGI:3644176|Gm5828|predicted gene 5828 [Source:MGI Symbol;Acc:MGI:3644176]|Heterozygous||T|C|32|37.0|Non-synonymous|Line Propagating
5233481|IGL01143|19|13095112|F->I|1.0|Probably damaging|MGI:3031291|Olfr1457|olfactory receptor 1457 [Source:MGI Symbol;Acc:MGI:3031291]|Heterozygous||A|T|28|39.0|Non-synonymous|Line Propagating
5233482|IGL01143|4|108244994|V->E|0.01|Benign|MGI:2685277|Zyg11b|zyg-ll homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:2685277]|Heterozygous||A|T|28|36.5|Non-synonymous|Line Propagating
5233483|IGL01143|15|10530689|I->T|0.98|Probably damaging|MGI:1923027|Ttc23l|tetratricopeptide repeat domain 23-like [Source:MGI Symbol;Acc:MGI:1923027]|Heterozygous||A|G|27|35.0|Non-synonymous|Line Propagating
5233484|IGL01143|8|104429453|D->G|0.93|Possibly damaging|MGI:107738|Dync1li2|dynein, cytoplasmic 1 light intermediate chain 2 [Source:MGI Symbol;Acc:MGI:107738]|Heterozygous||T|C|25|35.0|Non-synonymous|Line Propagating
5233485|IGL01143|1|170302825|M->I|||MGI:3649135|Gm7694|predicted gene 7694 [Source:MGI Symbol;Acc:MGI:3649135]|Heterozygous||C|T|24|38.0|Non-synonymous|Line Propagating
5233486|IGL01143|10|85654471|Disrupted splicing|||MGI:1921257|Btbd11|BTB (POZ) domain containing 11 [Source:MGI Symbol;Acc:MGI:1921257]|Heterozygous||A|T|22|34.0|Splice|Line Propagating
5233487|IGL01143|5|138271402|M->T|0.96|Probably damaging|MGI:1916254|Gal3st4|galactose-3-O-sulfotransferase 4 [Source:MGI Symbol;Acc:MGI:1916254]|Heterozygous||A|G|22|38.0|Non-synonymous|Line Propagating
5233488|IGL01143|2|127780136|V->I|0.94|Possibly damaging|MGI:1858233|Nphp1|nephronophthisis 1 (juvenile) homolog (human) [Source:MGI Symbol;Acc:MGI:1858233]|Heterozygous|Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor degeneration.|C|T|21|39.0|Non-synonymous|Line Propagating
5233489|IGL01143|17|56063336|D->E|0.84|Possibly damaging|MGI:1351331|Chaf1a|chromatin assembly factor 1, subunit A (p150) [Source:MGI Symbol;Acc:MGI:1351331]|Heterozygous|Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.|T|A|18|39.0|Non-synonymous|Line Propagating
5233490|IGL01143|14|65037421|V->I|0.01|Benign|MGI:1098533|Ints9|integrator complex subunit 9 [Source:MGI Symbol;Acc:MGI:1098533]|Heterozygous||G|A|17|38.0|Non-synonymous|Line Propagating
5233491|IGL01143|18|67804375|D->E|0.97|Probably damaging|MGI:1918049|Cep192|centrosomal protein 192 [Source:MGI Symbol;Acc:MGI:1918049]|Heterozygous||T|A|17|39.0|Non-synonymous|Line Propagating
5233492|IGL01143|18|37442637|W->R||Benign|MGI:2136748|Pcdhb13|protocadherin beta 13 [Source:MGI Symbol;Acc:MGI:2136748]|Heterozygous||T|C|16|38.0|Non-synonymous|Line Propagating
5233493|IGL01143|7|35301572|Disrupted splicing|||MGI:1914721|Gpatch1|G patch domain containing 1 [Source:MGI Symbol;Acc:MGI:1914721]|Heterozygous||A|G|14|39.0|Splice|Line Propagating
5233494|IGL01143|8|95534260|V->A|0.97|Probably damaging|MGI:3606076|Ccdc113|coiled-coil domain containing 113 [Source:MGI Symbol;Acc:MGI:3606076]|Heterozygous||T|C|13|37.0|Non-synonymous|Line Propagating
5233495|IGL01143|16|3990888|K->R|0.97|Probably damaging|MGI:106299|Slx4|SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:106299]|Heterozygous|Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis.|T|C|10|39.5|Non-synonymous|Line Propagating
5234087|IGL01144|10|62598550|K->N||Unknown|MGI:1860494|Ddx21|DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 [Source:MGI Symbol;Acc:MGI:1860494]|Heterozygous||T|A|149|37.0|Non-synonymous|Line Propagating
5234088|IGL01144|7|122975946|D->E|1.0|Probably damaging|MGI:894835|Rbbp6|retinoblastoma binding protein 6 [Source:MGI Symbol;Acc:MGI:894835]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis.|T|A|132|39.0|Non-synonymous|Line Propagating
5234089|IGL01144|2|181995021|N->D|||MGI:3769929|Gm14496|predicted gene 14496 [Source:MGI Symbol;Acc:MGI:3769929]|Heterozygous||A|G|120|40.0|Non-synonymous|Line Propagating
5234090|IGL01144|9|73075568|Disrupted splicing|||MGI:1861441|Rab27a|RAB27A, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1861441]|Heterozygous|Homozygotes have abnormal melanocyte development producing abnormal pigmentation and a gray coat color.|G|A|110|38.0|Splice|Line Propagating
5234091|IGL01144|4|147932754|Q->K||Benign|MGI:99907|Plod1|procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 [Source:MGI Symbol;Acc:MGI:99907]|Heterozygous|Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection.|G|T|75|39.0|Non-synonymous|Line Propagating
5234092|IGL01144|14|101444663|Y->N|1.0|Probably damaging|MGI:2429660|Tbc1d4|TBC1 domain family, member 4 [Source:MGI Symbol;Acc:MGI:2429660]|Heterozygous|Mice homozygous for a knock-in allele show a slightly reduced body size, glucose intolerance, impaired insulin sensitivity, deregulated GLUT4 trafficking, abnormal glucose uptake in muscle and adipose cells, increased testis and heart weight in male mice, and reduced spleen weight in female mice.|A|T|74|39.0|Non-synonymous|Line Propagating
5234093|IGL01144|1|174187263|D->E|0.79|Possibly damaging|MGI:98385|Spna1|spectrin alpha 1 [Source:MGI Symbol;Acc:MGI:98385]|Heterozygous|Homozygotes for spontaneous mutations exhibit microcytic, hypochromic, hemolytic anemia, jaundice, and high neonatal mortality. Heterozygotes of some alleles may exhibit a mild spherocytic transition.|T|A|73|39.0|Non-synonymous|Line Propagating
5234094|IGL01144|5|139345126|K->E|1.0|Probably damaging|MGI:1915283|Cox19|COX19 cytochrome c oxidase assembly homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915283]|Heterozygous||T|C|66|34.0|Non-synonymous|Line Propagating
5234095|IGL01144|17|46957321|I->T|0.97|Probably damaging|MGI:1861099|Ubr2|ubiquitin protein ligase E3 component n-recognin 2 [Source:MGI Symbol;Acc:MGI:1861099]|Heterozygous|On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero.|A|G|60|39.0|Non-synonymous|Line Propagating
5234096|IGL01144|X|104083953|S->P|0.98|Probably damaging|MGI:2148050|C77370|expressed sequence C77370 [Source:MGI Symbol;Acc:MGI:2148050]|Heterozygous||A|G|60|38.0|Non-synonymous|Line Propagating
5234097|IGL01144|2|76720829|Y->Stop||N/A|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|T|51|36.0|Non-synonymous|Line Propagating
5234098|IGL01144|7|110329903|T->K|0.99|Probably damaging|MGI:1921831|Sbf2|SET binding factor 2 [Source:MGI Symbol;Acc:MGI:1921831]|Heterozygous|Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.|G|T|46|38.5|Non-synonymous|Line Propagating
5234099|IGL01144|5|145195996|R->S|0.82|Possibly damaging|MGI:1914485|Zkscan14|zinc finger with KRAB and SCAN domains 14 [Source:MGI Symbol;Acc:MGI:1914485]|Heterozygous||G|T|35|36.0|Non-synonymous|Line Propagating
5234100|IGL01144|12|25010926|I->T|1.0|Probably damaging|MGI:1924730|Kidins220|kinase D-interacting substrate 220 [Source:MGI Symbol;Acc:MGI:1924730]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons.|T|C|32|39.0|Non-synonymous|Line Propagating
5234101|IGL01144|17|35926564|R->C|1.0|Probably damaging|MGI:1289273|Ppp1r10|protein phosphatase 1, regulatory subunit 10 [Source:MGI Symbol;Acc:MGI:1289273]|Heterozygous||C|T|30|39.0|Non-synonymous|Line Propagating
5234102|IGL01144|6|43304001|V->A|0.02|Benign|MGI:108011|Nobox|NOBOX oogenesis homeobox [Source:MGI Symbol;Acc:MGI:108011]|Heterozygous|Mice homozygous for disruptions in this gene display oocyte degeneration after birth, atrophic ovaries, and female infertility.|A|G|29|36.0|Non-synonymous|Line Propagating
5234103|IGL01144|7|100503224|D->G|0.84|Possibly damaging|MGI:1916637|Dnajb13|DnaJ (Hsp40) related, subfamily B, member 13 [Source:MGI Symbol;Acc:MGI:1916637]|Heterozygous||T|C|26|35.0|Non-synonymous|Line Propagating
5234104|IGL01144|13|43037524|D->N|||MGI:2659021|Phactr1|phosphatase and actin regulator 1 [Source:MGI Symbol;Acc:MGI:2659021]|Heterozygous||G|A|17|37.0|Non-synonymous|Line Propagating
5234105|IGL01144|14|70191568|S->A|0.8|Possibly damaging|MGI:700013|Sorbs3|sorbin and SH3 domain containing 3 [Source:MGI Symbol;Acc:MGI:700013]|Heterozygous|Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo.|A|C|16|38.5|Non-synonymous|Line Propagating
5234106|IGL01144|7|45047458|E->G||Unknown|MGI:2679002|Prr12|proline rich 12 [Source:MGI Symbol;Acc:MGI:2679002]|Heterozygous||T|C|13|35.0|Non-synonymous|Line Propagating
5234689|IGL01145|9|36120702|D->E|||MGI:3643162|Gm5916|predicted gene 5916 [Source:MGI Symbol;Acc:MGI:3643162]|Heterozygous||A|T|112|39.0|Non-synonymous|Line Propagating
5234690|IGL01145|15|37944560|P->L|1.0|Probably damaging|MGI:2155865|Rrm2b|ribonucleotide reductase M2 B (TP53 inducible) [Source:MGI Symbol;Acc:MGI:2155865]|Heterozygous|Loss of both functional copies of this gene results in growth retardation, multiple organ failure, and ultimately premature death due to kidney failure. Spontaneous mutation rates and apoptosis are increased in the kidneys due to an attenuation of dNTP pools and a resulting impairment of DNA repair.|G|A|85|39.0|Non-synonymous|Line Propagating
5234691|IGL01145|9|78312956|M->V|||MGI:106620|Omt2a|oocyte maturation, alpha [Source:MGI Symbol;Acc:MGI:106620]|Heterozygous||T|C|84|38.0|Non-synonymous|Line Propagating
5234692|IGL01145|4|58811501|D->E|0.12|Benign|MGI:2140220|Ai314180|expressed sequence AI314180 [Source:MGI Symbol;Acc:MGI:2140220]|Heterozygous||A|C|76|39.0|Non-synonymous|Line Propagating
5234693|IGL01145|2|164907502|T->K||Benign|MGI:2682313|Zfp335|zinc finger protein 335 [Source:MGI Symbol;Acc:MGI:2682313]|Heterozygous||G|T|74|35.0|Non-synonymous|Line Propagating
5234694|IGL01145|13|100409121|S->P|0.69|Possibly damaging|MGI:1298223|Naip1|NLR family, apoptosis inhibitory protein 1 [Source:MGI Symbol;Acc:MGI:1298223]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|71|38.0|Non-synonymous|Line Propagating
5234695|IGL01145|19|39170961|E->D||Benign|MGI:1917138|Cyp2c66|cytochrome P450, family 2, subfamily c, polypeptide 66 [Source:MGI Symbol;Acc:MGI:1917138]|Heterozygous||G|T|71|39.0|Non-synonymous|Line Propagating
5234696|IGL01145|9|51074046|T->I||Benign|MGI:2685357|Layn|layilin [Source:MGI Symbol;Acc:MGI:2685357]|Heterozygous||G|A|66|37.0|Non-synonymous|Line Propagating
5234697|IGL01145|17|25963050|V->A|1.0|Probably damaging|MGI:1355075|Solh|small optic lobes homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1355075]|Heterozygous||A|G|65|35.0|Non-synonymous|Line Propagating
5234698|IGL01145|10|79741137|V->A|0.19|Benign|MGI:1915843|Polrmt|polymerase (RNA) mitochondrial (DNA directed) [Source:MGI Symbol;Acc:MGI:1915843]|Heterozygous||A|G|54|37.5|Non-synonymous|Line Propagating
5234699|IGL01145|8|26059344|M->I||Benign|MGI:2443554|Hook3|hook homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2443554]|Heterozygous||C|T|54|40.0|Non-synonymous|Line Propagating
5234700|IGL01145|15|27818167|Disrupted splicing|||MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|G|A|46|38.0|Splice|Line Propagating
5234701|IGL01145|3|5245347|E->G|0.98|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||A|G|45|38.0|Non-synonymous|Line Propagating
5234702|IGL01145|4|132709995|I->V|0.99|Probably damaging|MGI:109339|Eya3|eyes absent 3 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:109339]|Heterozygous|Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior.|A|G|45|37.0|Non-synonymous|Line Propagating
5234703|IGL01145|7|29151473|S->P||Benign|MGI:2386851|Rasgrp4|RAS guanyl releasing protein 4 [Source:MGI Symbol;Acc:MGI:2386851]|Heterozygous||T|C|44|38.0|Non-synonymous|Line Propagating
5234704|IGL01145|8|107367215|I->N|0.86|Possibly damaging|MGI:1859333|Nfat5|nuclear factor of activated T cells 5 [Source:MGI Symbol;Acc:MGI:1859333]|Heterozygous|Homozygous null mutation of this gene results in progressive renal atrophy and disruption of osmoprotective gene expression.|T|A|39|35.0|Non-synonymous|Line Propagating
5234705|IGL01145|7|98712903|Disrupted splicing|||MGI:1920231|Prkrir|protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) [Source:MGI Symbol;Acc:MGI:1920231]|Heterozygous||A|G|34|39.0|Splice|Line Propagating
5234706|IGL01145|1|54762259|Disrupted splicing|||MGI:3045243|Ankrd44|ankyrin repeat domain 44 [Source:MGI Symbol;Acc:MGI:3045243]|Heterozygous||A|G|33|37.0|Splice|Line Propagating
5234707|IGL01145|4|155885126|Y->C|0.06|Benign|MGI:1919207|Cpsf3l|cleavage and polyadenylation specific factor 3-like [Source:MGI Symbol;Acc:MGI:1919207]|Heterozygous||A|G|33|39.0|Non-synonymous|Line Propagating
5234708|IGL01145|11|59983467|L->P|0.96|Probably damaging|MGI:104535|Pemt|phosphatidylethanolamine N-methyltransferase [Source:MGI Symbol;Acc:MGI:104535]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype on normal diets but display liver abnormalities on choline deficient diets or high fat and cholesterol diets.|A|G|32|39.0|Non-synonymous|Line Propagating
5234709|IGL01145|4|104780580|Y->F|0.38|Benign|MGI:88236|C8b|complement component 8, beta polypeptide [Source:MGI Symbol;Acc:MGI:88236]|Heterozygous|In a controlled microbial environment (clean) laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype.|A|T|32|38.0|Non-synonymous|Line Propagating
5234710|IGL01145|6|142303364|R->S|1.0|Probably damaging|MGI:96382|Iapp|islet amyloid polypeptide [Source:MGI Symbol;Acc:MGI:96382]|Heterozygous|Homozygous inactivation of this locus increases glucose tolerance in a gender-dependent manner and results in decreased bone density due to increased bone resorption.|C|A|32|37.0|Non-synonymous|Line Propagating
5234711|IGL01145|17|56767627|Disrupted splicing|||MGI:2147092|Dus3l|dihydrouridine synthase 3-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147092]|Heterozygous||T|C|31|39.0|Splice|Line Propagating
5234712|IGL01145|3|28604167|Disrupted splicing|||MGI:1916264|Tnik|TRAF2 and NCK interacting kinase [Source:MGI Symbol;Acc:MGI:1916264]|Heterozygous||A|G|31|38.0|Splice|Line Propagating
5234713|IGL01145|7|79099282|D->A|1.0|Probably damaging|MGI:99602|Acan|aggrecan [Source:MGI Symbol;Acc:MGI:99602]|Heterozygous|Mutations in this gene result in dwarfism, skeletal abnormalities, and cranial facial defects. Neonatal death is due to pulmonary hypoplasia.|A|C|28|37.0|Non-synonymous|Line Propagating
5234714|IGL01145|12|81992035|S->P|0.92|Possibly damaging|MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||T|C|27|32.0|Non-synonymous|Line Propagating
5234715|IGL01145|2|155826435|Disrupted splicing|||MGI:1196288|Eif6|eukaryotic translation initiation factor 6 [Source:MGI Symbol;Acc:MGI:1196288]|Heterozygous|Mice homozygous for a knock-out allele exhibit lethality prior to E3.5 and mice heterozygous for the allele exhibit reduced body, liver and adipose tissue weights associated with a reduced translation rate and delayed G1/S phase transition.|A|G|26|35.0|Splice|Line Propagating
5234716|IGL01145|8|22625386|V->D|0.9|Possibly damaging|MGI:2385299|Dkk4|dickkopf homolog 4 (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:2385299]|Heterozygous||T|A|26|33.5|Non-synonymous|Line Propagating
5234717|IGL01145|11|118047173|I->F|0.91|Possibly damaging|MGI:1917176|Dnahc17|dynein, axonemal, heavy chain 17 [Source:MGI Symbol;Acc:MGI:1917176]|Heterozygous||T|A|22|34.0|Non-synonymous|Line Propagating
5234718|IGL01145|2|91487051|I->T|0.99|Probably damaging|MGI:2442252|Lrp4|low density lipoprotein receptor-related protein 4 [Source:MGI Symbol;Acc:MGI:2442252]|Heterozygous|Homozygous mice have malformed digits on all 4 feet, some exhibiting brachydactyly, some syndactyly.|T|C|22|39.0|Non-synonymous|Line Propagating
5234719|IGL01145|9|59855375|F->L|0.08|Benign|MGI:107735|Myo9a|myosin IXa [Source:MGI Symbol;Acc:MGI:107735]|Heterozygous||T|A|18|40.0|Non-synonymous|Line Propagating
5234720|IGL01145|18|37989179|M->V||Benign|MGI:2147274|Arap3|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Source:MGI Symbol;Acc:MGI:2147274]|Heterozygous||T|C|17|36.0|Non-synonymous|Line Propagating
5234721|IGL01145|11|115853805|H->R|||MGI:1918843|Llgl2|lethal giant larvae homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918843]|Heterozygous||A|G|14|31.0|Non-synonymous|Line Propagating
5234722|IGL01145|7|98449963|S->T|0.04|Benign|MGI:106030|Gucy2d|guanylate cyclase 2d [Source:MGI Symbol;Acc:MGI:106030]|Heterozygous|Mice homozugous for a null allele lack olfactory response to uroguanylin and guanylin.|T|A|13|34.0|Non-synonymous|Line Propagating
5234723|IGL01145|11|96801566|D->V||Benign|MGI:105369|Cbx1|chromobox 1 [Source:MGI Symbol;Acc:MGI:105369]|Heterozygous|An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.|A|T|11|38.0|Non-synonymous|Line Propagating
5234724|IGL01145|5|72586204|Disrupted splicing|||MGI:3645333|Gm5868|predicted gene 5868 [Source:MGI Symbol;Acc:MGI:3645333]|Heterozygous||A|T|10|36.0|Splice|Line Propagating
5235324|IGL01146|6|40966283|I->T|1.0|Probably damaging|MGI:1920876|1810009j06rik|RIKEN cDNA 1810009J06 gene [Source:MGI Symbol;Acc:MGI:1920876]|Heterozygous||T|C|171|39.0|Non-synonymous|Alive, Line Propagating
5235325|IGL01146|2|130770671|Disrupted splicing|||MGI:1923029|4930402h24rik|RIKEN cDNA 4930402H24 gene [Source:MGI Symbol;Acc:MGI:1923029]|Heterozygous||C|T|89|37.0|Splice|Alive, Line Propagating
5235326|IGL01146|5|25308512|M->L|||MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|T|G|89|40.0|Non-synonymous|Alive, Line Propagating
5235327|IGL01146|8|111890682|C->Y|1.0|Probably damaging|MGI:1931825|Chst5|carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 [Source:MGI Symbol;Acc:MGI:1931825]|Heterozygous|Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing.|C|T|86|35.0|Non-synonymous|Alive, Line Propagating
5235328|IGL01146|10|52358867|V->A|0.21|Benign|MGI:2149946|Gopc|golgi associated PDZ and coiled-coil motif containing [Source:MGI Symbol;Acc:MGI:2149946]|Heterozygous|Mice homozygous for a null allele show male sterility with globozoospermia characterized by a complete lack of acrosomes due to failure of vesicle transport from the Golgi apparatus, a malformed sperm nucleus, and abnormal mitochondrial arrangement in the mitochondrial sheath of mutant spermatozoa.|A|G|82|37.0|Non-synonymous|Alive, Line Propagating
5235329|IGL01146|12|113544220|Y->F|1.0|Probably damaging|MGI:2676316|Adam6a|a disintegrin and metallopeptidase domain 6A [Source:MGI Symbol;Acc:MGI:2676316]|Heterozygous||A|T|81|35.0|Non-synonymous|Alive, Line Propagating
5235330|IGL01146|9|106305304|Y->H|0.02|Benign|MGI:1917485|Poc1a|POC1 centriolar protein homolog A (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1917485]|Heterozygous||T|C|68|37.0|Non-synonymous|Alive, Line Propagating
5235331|IGL01146|18|61989511|D->Y|0.92|Possibly damaging|MGI:2444417|Sh3tc2|SH3 domain and tetratricopeptide repeats 2 [Source:MGI Symbol;Acc:MGI:2444417]|Heterozygous|Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.|G|T|63|37.0|Non-synonymous|Alive, Line Propagating
5235332|IGL01146|11|74930428|Y->Stop||N/A|MGI:2144117|Smg6|Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) [Source:MGI Symbol;Acc:MGI:2144117]|Heterozygous||T|G|59|37.0|Non-synonymous|Alive, Line Propagating
5235333|IGL01146|1|166634952|D->V|||MGI:3643320|Gm4847|predicted gene 4847 [Source:MGI Symbol;Acc:MGI:3643320]|Heterozygous||T|A|55|37.0|Non-synonymous|Alive, Line Propagating
5235334|IGL01146|6|142804308|G->D|0.03|Benign|MGI:2685612|Gm766|predicted gene 766 [Source:MGI Symbol;Acc:MGI:2685612]|Heterozygous||C|T|55|39.0|Non-synonymous|Alive, Line Propagating
5235335|IGL01146|13|48819607|L->Q|0.98|Probably damaging|MGI:1338034|Phf2|PHD finger protein 2 [Source:MGI Symbol;Acc:MGI:1338034]|Heterozygous||A|T|54|37.0|Non-synonymous|Alive, Line Propagating
5235336|IGL01146|11|94742594|D->Y||Benign|MGI:1858429|Cdc34-ps|cell division cycle 34 homolog, pseudogene (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1858429]|Heterozygous||G|T|52|35.0|Non-synonymous|Alive, Line Propagating
5235337|IGL01146|2|155562037|V->A|0.15|Benign|MGI:1890410|Acss2|acyl-CoA synthetase short-chain family member 2 [Source:MGI Symbol;Acc:MGI:1890410]|Heterozygous||T|C|51|36.0|Non-synonymous|Alive, Line Propagating
5235338|IGL01146|18|61518010|I->N|0.84|Possibly damaging|MGI:3045339|Arhgef37|Rho guanine nucleotide exchange factor (GEF) 37 [Source:MGI Symbol;Acc:MGI:3045339]|Heterozygous||A|T|49|38.0|Non-synonymous|Alive, Line Propagating
5235339|IGL01146|5|21740478|Disrupted splicing|||MGI:1920328|Pmpcb|peptidase (mitochondrial processing) beta [Source:MGI Symbol;Acc:MGI:1920328]|Heterozygous||T|A|40|39.0|Splice|Alive, Line Propagating
5235340|IGL01146|10|53907519|E->G|0.02|Benign|MGI:104677|Man1a|mannosidase 1, alpha [Source:MGI Symbol;Acc:MGI:104677]|Heterozygous||T|C|35|38.0|Non-synonymous|Alive, Line Propagating
5235341|IGL01146|2|156312614|S->T||Unknown|MGI:1918123|4921517l17rik|RIKEN cDNA 4921517L17 gene [Source:MGI Symbol;Acc:MGI:1918123]|Heterozygous||T|A|35|34.0|Non-synonymous|Alive, Line Propagating
5235342|IGL01146|7|116157473|Disrupted splicing|||MGI:2445094|Plekha7|pleckstrin homology domain containing, family A member 7 [Source:MGI Symbol;Acc:MGI:2445094]|Heterozygous||G|A|33|38.0|Splice|Alive, Line Propagating
5235343|IGL01146|3|92123197|C->Stop||N/A|MGI:1925680|Prr9|proline rich 9 [Source:MGI Symbol;Acc:MGI:1925680]|Heterozygous||A|T|32|37.0|Non-synonymous|Alive, Line Propagating
5235344|IGL01146|4|45031369|L->S|0.45|Possibly damaging|MGI:1929022|Polr1e|polymerase (RNA) I polypeptide E [Source:MGI Symbol;Acc:MGI:1929022]|Heterozygous||T|C|32|38.0|Non-synonymous|Alive, Line Propagating
5235345|IGL01146|6|3700144|Y->F|1.0|Probably damaging|MGI:101950|Calcr|calcitonin receptor [Source:MGI Symbol;Acc:MGI:101950]|Heterozygous|Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype.|T|A|32|35.0|Non-synonymous|Alive, Line Propagating
5235347|IGL01146|2|133561300|Q->L|0.02|Benign|MGI:88177|Bmp2|bone morphogenetic protein 2 [Source:MGI Symbol;Acc:MGI:88177]|Heterozygous|Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity.|A|T|30|40.0|Non-synonymous|Alive, Line Propagating
5235348|IGL01146|16|16314325|D->G||Benign|MGI:1921256|Dnm1l|dynamin 1-like [Source:MGI Symbol;Acc:MGI:1921256]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5.|T|C|27|39.0|Non-synonymous|Alive, Line Propagating
5235349|IGL01146|6|108664940|S->P||Benign|MGI:1097714|Bhlhe40|basic helix-loop-helix family, member e40 [Source:MGI Symbol;Acc:MGI:1097714]|Heterozygous|Homozygous mutation of this gene results in impaired immune function and hyperplasia of the lymphoid organs. Aging mutant animals exhibit autoimmune disease.|T|C|27|35.0|Non-synonymous|Alive, Line Propagating
5235350|IGL01146|4|102255263|S->T||Benign|MGI:99557|Pde4b|phosphodiesterase 4B, cAMP specific [Source:MGI Symbol;Acc:MGI:99557]|Heterozygous|Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation.|T|A|25|39.0|Non-synonymous|Alive, Line Propagating
5235351|IGL01146|11|116350086|H->R|0.03|Benign|MGI:2442484|Rnf157|ring finger protein 157 [Source:MGI Symbol;Acc:MGI:2442484]|Heterozygous||T|C|22|35.0|Non-synonymous|Alive, Line Propagating
5235352|IGL01146|3|94364463|Disrupted splicing|||MGI:2685505|C2cd4d|C2 calcium-dependent domain containing 4D [Source:MGI Symbol;Acc:MGI:2685505]|Heterozygous||A|G|20|38.0|Splice|Alive, Line Propagating
5235353|IGL01146|19|56809317|E->G|1.0|Probably damaging|MGI:2445022|A630007b06rik|RIKEN cDNA A630007B06 gene [Source:MGI Symbol;Acc:MGI:2445022]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive, Line Propagating
5235354|IGL01146|17|33065383|L->S|0.08|Benign|MGI:1921292|4921501e09rik|RIKEN cDNA 4921501E09 gene [Source:MGI Symbol;Acc:MGI:1921292]|Heterozygous||A|G|17|37.0|Non-synonymous|Alive, Line Propagating
5235355|IGL01146|19|6831128|F->L|0.99|Probably damaging|MGI:1930076|Rps6ka4|ribosomal protein S6 kinase, polypeptide 4 [Source:MGI Symbol;Acc:MGI:1930076]|Heterozygous|No phenotypic information associated with mutations in this gene have been reported.|A|G|17|33.0|Non-synonymous|Alive, Line Propagating
5235356|IGL01146|5|112428409|S->P|1.0|Probably damaging|MGI:1935121|Sez6l|seizure related 6 homolog like [Source:MGI Symbol;Acc:MGI:1935121]|Heterozygous|Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.|A|G|14|35.0|Non-synonymous|Alive, Line Propagating
5235357|IGL01146|16|76403367|Q->Stop||N/A|MGI:3708621|Gm9843|predicted gene 9843 [Source:MGI Symbol;Acc:MGI:3708621]|Heterozygous||G|A|11|38.0|Non-synonymous|Alive, Line Propagating
5235934|IGL01147|4|118589001|V->E|0.98|Probably damaging|MGI:2686209|Wdr65|WD repeat domain 65 [Source:MGI Symbol;Acc:MGI:2686209]|Heterozygous||A|T|301|35.0|Non-synonymous|Line Propagating
5235935|IGL01147|6|70260938|Disrupted splicing|||MGI:3589938, MGI:3525629, MGI:3526935, MGI:3526938, MGI:3045410, MGI:3526936, MGI:2680928, MGI:3624752, MGI:3526937|Ac158672.2||Heterozygous||A|G|211|40.0|Splice|Line Propagating
5235936|IGL01147|6|57002641|L->H|1.0|Probably damaging|MGI:2159456|Vmn1r6|vomeronasal 1 receptor 6 [Source:MGI Symbol;Acc:MGI:2159456]|Heterozygous||T|A|200|36.0|Non-synonymous|Line Propagating
5235937|IGL01147|17|36671307|H->L|0.91|Possibly damaging|MGI:95913|H2-m1|histocompatibility 2, M region locus 1 [Source:MGI Symbol;Acc:MGI:95913]|Heterozygous||T|A|93|37.0|Non-synonymous|Line Propagating
5235938|IGL01147|7|22790779|S->P|||MGI:3646143|Vmn1r158|vomeronasal 1 receptor 158 [Source:MGI Symbol;Acc:MGI:3646143]|Heterozygous||A|G|82|37.0|Non-synonymous|Line Propagating
5235939|IGL01147|10|24774907|T->K|1.0|Probably damaging|MGI:2143702|Enpp3|ectonucleotide pyrophosphatase/phosphodiesterase 3 [Source:MGI Symbol;Acc:MGI:2143702]|Heterozygous||G|T|60|38.0|Non-synonymous|Line Propagating
5235940|IGL01147|13|64135439|S->P|1.0|Probably damaging|MGI:2442266|Zfp367|zinc finger protein 367 [Source:MGI Symbol;Acc:MGI:2442266]|Heterozygous||A|G|54|35.0|Non-synonymous|Line Propagating
5235941|IGL01147|17|80636718|Disrupted splicing|||MGI:2154405|Map4k3|mitogen-activated protein kinase kinase kinase kinase 3 [Source:MGI Symbol;Acc:MGI:2154405]|Heterozygous||A|T|54|37.5|Splice|Line Propagating
5235942|IGL01147|8|106660884|T->K|1.0|Probably damaging|MGI:88354|Cdh1|cadherin 1 [Source:MGI Symbol;Acc:MGI:88354]|Heterozygous|In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.|C|A|53|37.0|Non-synonymous|Line Propagating
5235943|IGL01147|7|90177592|S->I|0.52|Possibly damaging|MGI:2385902|Picalm|phosphatidylinositol binding clathrin assembly protein [Source:MGI Symbol;Acc:MGI:2385902]|Heterozygous|Mice homozygous for different ENU-induced mutations are small and runted and display anemia of variable severity.|G|T|50|37.0|Non-synonymous|Line Propagating
5235944|IGL01147|X|138220576|Disrupted splicing|||MGI:1913106|Il1rapl2|interleukin 1 receptor accessory protein-like 2 [Source:MGI Symbol;Acc:MGI:1913106]|Heterozygous||C|T|49|39.0|Splice|Line Propagating
5235945|IGL01147|11|94343785|Disrupted splicing|||MGI:1923658|Abcc3|ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [Source:MGI Symbol;Acc:MGI:1923658]|Heterozygous|Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation|A|G|47|39.0|Splice|Line Propagating
5235946|IGL01147|3|142829009|N->S|0.58|Possibly damaging|MGI:109211|Pkn2|protein kinase N2 [Source:MGI Symbol;Acc:MGI:109211]|Heterozygous||T|C|41|39.0|Non-synonymous|Line Propagating
5235947|IGL01147|7|56156949|S->P|0.12|Benign|MGI:103234|Herc2|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2 [Source:MGI Symbol;Acc:MGI:103234]|Heterozygous|Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.|T|C|40|37.5|Non-synonymous|Line Propagating
5235948|IGL01147|7|105555736|T->K|1.0|Probably damaging|MGI:98325|Smpd1|sphingomyelin phosphodiesterase 1, acid lysosomal [Source:MGI Symbol;Acc:MGI:98325]|Heterozygous||C|A|39|38.0|Non-synonymous|Line Propagating
5235949|IGL01147|X|37096933|E->G|0.95|Possibly damaging|MGI:1915384|Upf3b|UPF3 regulator of nonsense transcripts homolog B (yeast) [Source:MGI Symbol;Acc:MGI:1915384]|Heterozygous||T|C|38|38.5|Non-synonymous|Line Propagating
5235950|IGL01147|4|85347196|Disrupted splicing|||MGI:700009|Sh3gl2|SH3-domain GRB2-like 2 [Source:MGI Symbol;Acc:MGI:700009]|Heterozygous||A|C|37|38.0|Splice|Line Propagating
5235951|IGL01147|10|5052691|Q->Stop||N/A|MGI:1927152|Syne1|synaptic nuclear envelope 1 [Source:MGI Symbol;Acc:MGI:1927152]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|G|A|33|37.0|Non-synonymous|Line Propagating
5235952|IGL01147|7|46098769|K->E||Benign|MGI:107501|Kcnj11|potassium inwardly rectifying channel, subfamily J, member 11 [Source:MGI Symbol;Acc:MGI:107501]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death.|T|C|32|34.0|Non-synonymous|Line Propagating
5235953|IGL01147|1|180589580|I->T|0.28|Benign|MGI:1340806|Parp1|poly (ADP-ribose) polymerase family, member 1 [Source:MGI Symbol;Acc:MGI:1340806]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are grossly phenotypically normal. Depending on the allele, homozygotes may display epidermal hyperplasia, obesity, extreme sensitivity to radiation and alkylating agents.|T|C|30|39.0|Non-synonymous|Line Propagating
5235954|IGL01147|19|46644369|V->E|0.05|Benign|MGI:107577|D19wsu162e|DNA segment, Chr 19, Wayne State University 162, expressed [Source:MGI Symbol;Acc:MGI:107577]|Heterozygous||T|A|30|38.0|Non-synonymous|Line Propagating
5235955|IGL01147|X|20928742|R->C|1.0|Probably damaging|MGI:97545|Cfp|complement factor properdin [Source:MGI Symbol;Acc:MGI:97545]|Heterozygous|Homozygotes for targeted null mutations have defects in the alternative complement pathway.|G|A|30|35.0|Non-synonymous|Line Propagating
5235956|IGL01147|13|12437912|S->P|||MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||T|C|28|36.0|Non-synonymous|Line Propagating
5235958|IGL01147|8|71683403|S->P||Benign|MGI:99928|Jak3|Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]|Heterozygous|Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.|T|C|26|38.5|Non-synonymous|Line Propagating
5235959|IGL01147|19|56901634|S->P|1.0|Probably damaging|MGI:2684334|Vwa2|von Willebrand factor A domain containing 2 [Source:MGI Symbol;Acc:MGI:2684334]|Heterozygous||T|C|24|39.0|Non-synonymous|Line Propagating
5235960|IGL01147|1|133393135|T->S||Benign|MGI:98361|Sox13|SRY-box containing gene 13 [Source:MGI Symbol;Acc:MGI:98361]|Heterozygous|Mice homozygous for a knock-out allele display impaired development of gamma-delta T cells and severe postnatal growth defects.|T|A|23|34.0|Non-synonymous|Line Propagating
5235961|IGL01147|6|126944852|D->G|0.01|Benign|MGI:107893|D6wsu163e|DNA segment, Chr 6, Wayne State University 163, expressed [Source:MGI Symbol;Acc:MGI:107893]|Heterozygous||A|G|23|39.0|Non-synonymous|Line Propagating
5235962|IGL01147|7|88302271|V->D|0.53|Possibly damaging|MGI:109553|Ctsc|cathepsin C [Source:MGI Symbol;Acc:MGI:109553]|Heterozygous|Homozygotes for some targeted null mutations exhibit cytotoxic lymphocytes with inactive granzymes A and B which are incapable of granule-mediated apoptosis. Mutant mast cells lack activated chymase activity. Homozygotes for other alleles display a scruffy coat with age and behavioral abnormalities|T|A|20|38.0|Non-synonymous|Line Propagating
5235963|IGL01147|1|30804169|D->G|1.0|Probably damaging|MGI:2446126|Phf3|PHD finger protein 3 [Source:MGI Symbol;Acc:MGI:2446126]|Heterozygous||T|C|19|33.0|Non-synonymous|Line Propagating
5235964|IGL01147|X|20060752|I->T|1.0|Probably damaging|MGI:1891767|Chst7|carbohydrate (N-acetylglucosamino) sulfotransferase 7 [Source:MGI Symbol;Acc:MGI:1891767]|Heterozygous||T|C|18|35.0|Non-synonymous|Line Propagating
5235965|IGL01147|9|86798558|T->M|0.94|Possibly damaging|MGI:109132|Snap91|synaptosomal-associated protein 91 [Source:MGI Symbol;Acc:MGI:109132]|Heterozygous||G|A|16|37.0|Non-synonymous|Line Propagating
5235966|IGL01147|15|27881320|E->G|0.35|Benign|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|T|C|14|36.0|Non-synonymous|Line Propagating
5235967|IGL01147|4|134089264|Disrupted splicing|||MGI:1334463|Aim1l|absent in melanoma 1-like [Source:MGI Symbol;Acc:MGI:1334463]|Heterozygous||G|A|14|38.5|Splice|Line Propagating
5235968|IGL01147|10|127050386|T->I|0.89|Possibly damaging|MGI:1098274|Cyp27b1|cytochrome P450, family 27, subfamily b, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1098274]|Heterozygous|Homozygotes for targeted null mutations exhibit hypocalcemia, hyperparathyroidism, retarded growth, enlarged lymph nodes, and rickets. Females have uterine hypoplasia and lack corpora lutea, resulting in infertility.|C|T|12|37.0|Non-synonymous|Line Propagating
5235969|IGL01147|2|119742773|L->P||Benign|MGI:1333822|Itpka|inositol 1,4,5-trisphosphate 3-kinase A [Source:MGI Symbol;Acc:MGI:1333822]|Heterozygous|Mice homozygous for a knock-out allele display enhanced long term potentiation in the hippocampal CA1 region.|T|C|11|30.0|Non-synonymous|Line Propagating
5236560|IGL01149|2|32034700|S->I|0.97|Probably damaging|MGI:1095411|Nup214|nucleoporin 214 [Source:MGI Symbol;Acc:MGI:1095411]|Heterozygous|Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export.|G|T|110|35.0|Non-synonymous|Line Propagating
5236561|IGL01149|4|107107111|F->S||Benign|MGI:3045328|Cdcp2|CUB domain containing protein 2 [Source:MGI Symbol;Acc:MGI:3045328]|Heterozygous||T|C|105|37.0|Non-synonymous|Line Propagating
5236562|IGL01149|2|119331109|C->R|1.0|Probably damaging|MGI:1859388|Dll4|delta-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1859388]|Heterozygous|Homozygous null mice display embryonic lethality, absent vascular remodeling, small hearts, and embryonic growth retardation. Heterozygous null mice display background dependent partial or complete embryonic lethality, impaired vascular remodeling, and embryonic growth retardation.|T|C|100|33.0|Non-synonymous|Line Propagating
5236563|IGL01149|14|50345614|A->E|0.99|Probably damaging|MGI:3030569|Olfr735|olfactory receptor 735 [Source:MGI Symbol;Acc:MGI:3030569]|Heterozygous||G|T|84|38.0|Non-synonymous|Line Propagating
5236564|IGL01149|13|13980685|I->F|0.07|Benign|MGI:2145517|B3galnt2|UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:2145517]|Heterozygous||A|T|79|39.0|Non-synonymous|Line Propagating
5236565|IGL01149|4|144673779|D->G|0.4|Benign|MGI:2685282|Gm436|predicted gene 436 [Source:MGI Symbol;Acc:MGI:2685282]|Heterozygous||T|C|73|37.0|Non-synonymous|Line Propagating
5236566|IGL01149|8|106179600|S->P|0.37|Benign|MGI:2142598|Slc7a6|solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 [Source:MGI Symbol;Acc:MGI:2142598]|Heterozygous||T|C|69|34.0|Non-synonymous|Line Propagating
5236567|IGL01149|2|119332745|Y->H|1.0|Probably damaging|MGI:1859388|Dll4|delta-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1859388]|Heterozygous|Homozygous null mice display embryonic lethality, absent vascular remodeling, small hearts, and embryonic growth retardation. Heterozygous null mice display background dependent partial or complete embryonic lethality, impaired vascular remodeling, and embryonic growth retardation.|T|C|65|38.0|Non-synonymous|Line Propagating
5236568|IGL01149|5|75610876|T->M|0.9|Possibly damaging|MGI:96677|Kit|kit oncogene [Source:MGI Symbol;Acc:MGI:96677]|Heterozygous|Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hemopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.|C|T|64|39.0|Non-synonymous|Line Propagating
5236569|IGL01149|10|127174177|Disrupted splicing|||MGI:2143920|Slc26a10|solute carrier family 26, member 10 [Source:MGI Symbol;Acc:MGI:2143920]|Heterozygous||G|A|63|38.0|Splice|Line Propagating
5236570|IGL01149|2|179874144|T->A|0.93|Possibly damaging|MGI:99218|Cdh4|cadherin 4 [Source:MGI Symbol;Acc:MGI:99218]|Heterozygous|Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.|A|G|62|37.0|Non-synonymous|Line Propagating
5236571|IGL01149|2|111101137|E->V||Unknown|MGI:3651375|Gm13941|predicted gene 13941 [Source:MGI Symbol;Acc:MGI:3651375]|Heterozygous||T|A|46|38.0|Non-synonymous|Line Propagating
5236572|IGL01149|2|111484101|S->P|0.59|Possibly damaging|MGI:3031123|Olfr1289|olfactory receptor 1289 [Source:MGI Symbol;Acc:MGI:3031123]|Heterozygous||T|C|45|39.0|Non-synonymous|Line Propagating
5236573|IGL01149|11|7137385|N->H|0.98|Probably damaging|MGI:99677|Adcy1|adenylate cyclase 1 [Source:MGI Symbol;Acc:MGI:99677]|Heterozygous|Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities.|A|C|44|37.5|Non-synonymous|Line Propagating
5236574|IGL01149|7|99813880|H->R||Benign|MGI:1355305|Neu3|neuraminidase 3 [Source:MGI Symbol;Acc:MGI:1355305]|Heterozygous||T|C|44|39.0|Non-synonymous|Line Propagating
5236575|IGL01149|13|77112648|I->N|0.98|Probably damaging|MGI:2145448|Ankrd32|ankyrin repeat domain 32 [Source:MGI Symbol;Acc:MGI:2145448]|Heterozygous|Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes do not show any major cell cycle defects.|A|T|38|39.0|Non-synonymous|Line Propagating
5236576|IGL01149|13|92508283|H->R|1.0|Probably damaging|MGI:2145181|Zfyve16|zinc finger, FYVE domain containing 16 [Source:MGI Symbol;Acc:MGI:2145181]|Heterozygous||T|C|38|38.0|Non-synonymous|Line Propagating
5236577|IGL01149|2|121184783|D->G|0.19|Benign|MGI:1196293|Tubgcp4|tubulin, gamma complex associated protein 4 [Source:MGI Symbol;Acc:MGI:1196293]|Heterozygous||A|G|38|38.0|Non-synonymous|Line Propagating
5236578|IGL01149|2|63979760|R->G|0.9|Possibly damaging|MGI:1890647|Fign|fidgetin [Source:MGI Symbol;Acc:MGI:1890647]|Heterozygous|Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal defects.|T|C|35|37.0|Non-synonymous|Line Propagating
5236579|IGL01149|19|6312205|Disrupted splicing|||MGI:2652845|Cdc42bpg|CDC42 binding protein kinase gamma (DMPK-like) [Source:MGI Symbol;Acc:MGI:2652845]|Heterozygous||T|A|33|37.0|Splice|Line Propagating
5236580|IGL01149|8|105347807|V->A|0.97|Probably damaging|MGI:2679008|Fhod1|formin homology 2 domain containing 1 [Source:MGI Symbol;Acc:MGI:2679008]|Heterozygous||A|G|32|33.5|Non-synonymous|Line Propagating
5236581|IGL01149|2|129460312|Disrupted splicing|||MGI:3045317|F830045p16rik|RIKEN cDNA F830045P16 gene [Source:MGI Symbol;Acc:MGI:3045317]|Heterozygous||A|G|28|40.0|Splice|Line Propagating
5236582|IGL01149|5|76542244|Disrupted splicing|||MGI:2445020|Exoc1|exocyst complex component 1 [Source:MGI Symbol;Acc:MGI:2445020]|Heterozygous||A|G|26|35.0|Splice|Line Propagating
5236583|IGL01149|13|51676455|Disrupted splicing|||MGI:1922670|Secisbp2|SECIS binding protein 2 [Source:MGI Symbol;Acc:MGI:1922670]|Heterozygous||T|C|23|37.0|Splice|Line Propagating
5236584|IGL01149|1|180074572|S->P|0.99|Probably damaging|MGI:2441841|Cdc42bpa|CDC42 binding protein kinase alpha [Source:MGI Symbol;Acc:MGI:2441841]|Heterozygous||T|C|18|40.0|Non-synonymous|Line Propagating
5236586|IGL01149|9|20171530|L->I|0.99|Probably damaging|MGI:3030704|Olfr870|olfactory receptor 870 [Source:MGI Symbol;Acc:MGI:3030704]|Heterozygous||G|T|17|34.0|Non-synonymous|Line Propagating
5236587|IGL01149|19|10600651|L->P|1.0|Probably damaging|MGI:2385084|Dak|dihydroxyacetone kinase 2 homolog (yeast) [Source:MGI Symbol;Acc:MGI:2385084]|Heterozygous||A|G|14|39.0|Non-synonymous|Line Propagating
5236588|IGL01149|3|19895112|D->G||Unknown|MGI:1918058|4632415l05rik|RIKEN cDNA 4632415L05 gene [Source:MGI Symbol;Acc:MGI:1918058]|Heterozygous||A|G|14|35.0|Non-synonymous|Line Propagating
5236590|IGL01149|4|126573178|M->R|0.92|Possibly damaging|MGI:2445153|Clspn|claspin [Source:MGI Symbol;Acc:MGI:2445153]|Heterozygous||T|G|12|35.0|Non-synonymous|Line Propagating
5237148|IGL01150|2|164777833|I->N|1.0|Probably damaging|MGI:98780|Tnnc2|troponin C2, fast [Source:MGI Symbol;Acc:MGI:98780]|Heterozygous||A|T|298|37.0|Non-synonymous|Line Propagating
5237149|IGL01150|7|49452521|T->P|0.02|Benign|MGI:2183691|Nav2|neuron navigator 2 [Source:MGI Symbol;Acc:MGI:2183691]|Heterozygous|Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss.|A|C|155|36.0|Non-synonymous|Line Propagating
5237150|IGL01150|4|114845064|T->I|0.1|Benign|MGI:3649998|Gm12830|predicted gene 12830 [Source:MGI Symbol;Acc:MGI:3649998]|Heterozygous||C|T|147|38.0|Non-synonymous|Line Propagating
5237151|IGL01150|4|41757786|Disrupted splicing|||MGI:95638|Galt|galactose-1-phosphate uridyl transferase [Source:MGI Symbol;Acc:MGI:95638]|Heterozygous|Homozygotes for a targeted null mutation exhibit abnormal galactose metabolism, but lack symptoms of acute toxicity seen in humans with galactosemia.|T|C|120|37.0|Splice|Line Propagating
5237152|IGL01150|16|22959159|Disrupted splicing|||MGI:2146636|Hrg|histidine-rich glycoprotein [Source:MGI Symbol;Acc:MGI:2146636]|Heterozygous|Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal.|A|G|119|39.0|Splice|Line Propagating
5237153|IGL01150|3|107626731|Disrupted splicing|||MGI:2443884|Fam40a|family with sequence similarity 40, member A [Source:MGI Symbol;Acc:MGI:2443884]|Heterozygous||C|T|97|37.0|Splice|Line Propagating
5237154|IGL01150|2|65497365|Disrupted splicing|||MGI:98249|Scn3a|sodium channel, voltage-gated, type III, alpha [Source:MGI Symbol;Acc:MGI:98249]|Heterozygous|Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance.|C|A|93|38.0|Splice|Line Propagating
5237155|IGL01150|11|44869100|L->P|1.0|Probably damaging|MGI:95275|Ebf1|early B cell factor 1 [Source:MGI Symbol;Acc:MGI:95275]|Heterozygous|Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age.|T|C|92|39.0|Non-synonymous|Line Propagating
5237156|IGL01150|12|115067574|Disrupted splicing|||MGI:3052201, MGI:3645478, MGI:3581248|Ac079181.2||Heterozygous||T|C|78|37.0|Splice|Line Propagating
5237157|IGL01150|6|68835143|Disrupted splicing|||MGI:4439829|Igkv12-89|immunoglobulin kappa chain variable 12-89 [Source:MGI Symbol;Acc:MGI:4439829]|Heterozygous||A|G|76|39.0|Splice|Line Propagating
5237158|IGL01150|14|65860202|M->K|0.99|Probably damaging|MGI:1914429|Ccdc25|coiled-coil domain containing 25 [Source:MGI Symbol;Acc:MGI:1914429]|Heterozygous||T|A|73|39.0|Non-synonymous|Line Propagating
5237159|IGL01150|13|84292407|R->Stop||N/A|MGI:1919995|Tmem161b|transmembrane protein 161B [Source:MGI Symbol;Acc:MGI:1919995]|Heterozygous||C|T|67|38.0|Non-synonymous|Line Propagating
5237160|IGL01150|2|88462075|V->A|0.44|Possibly damaging|MGI:3031017|Olfr1183|olfactory receptor 1183 [Source:MGI Symbol;Acc:MGI:3031017]|Heterozygous||T|C|60|36.0|Non-synonymous|Line Propagating
5237161|IGL01150|4|58070302|I->F|0.94|Possibly damaging|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||T|A|57|36.0|Non-synonymous|Line Propagating
5237162|IGL01150|2|30892708|R->S|1.0|Probably damaging|MGI:1927593|Ptges|prostaglandin E synthase [Source:MGI Symbol;Acc:MGI:1927593]|Heterozygous|Homozygous null mice are fertile and display a decreased inflammatory response.|G|T|54|37.0|Non-synonymous|Line Propagating
5237163|IGL01150|7|56181133|W->R|1.0|Probably damaging|MGI:103234|Herc2|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2 [Source:MGI Symbol;Acc:MGI:103234]|Heterozygous|Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.|T|A|53|38.0|Non-synonymous|Line Propagating
5237164|IGL01150|1|154205364|H->L|1.0|Probably damaging|MGI:2685049|Zfp648|zinc finger protein 648 [Source:MGI Symbol;Acc:MGI:2685049]|Heterozygous||A|T|52|35.0|Non-synonymous|Line Propagating
5237165|IGL01150|3|126438784|D->G||Benign|MGI:2443513|Arsj|arylsulfatase J [Source:MGI Symbol;Acc:MGI:2443513]|Heterozygous||A|G|49|38.0|Non-synonymous|Line Propagating
5237166|IGL01150|8|124542891|F->S|0.99|Probably damaging|MGI:1923582|Cog2|component of oligomeric golgi complex 2 [Source:MGI Symbol;Acc:MGI:1923582]|Heterozygous||T|C|48|38.0|Non-synonymous|Line Propagating
5237167|IGL01150|7|102659492|K->Q|0.01|Benign|MGI:3030389|Olfr555|olfactory receptor 555 [Source:MGI Symbol;Acc:MGI:3030389]|Heterozygous||A|C|47|38.0|Non-synonymous|Line Propagating
5237168|IGL01150|4|145149275|N->S||Benign|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||T|C|44|36.5|Non-synonymous|Line Propagating
5237169|IGL01150|8|31917875|T->I|1.0|Probably damaging|MGI:96083|Nrg1|neuregulin 1 [Source:MGI Symbol;Acc:MGI:96083]|Heterozygous|Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors.|G|A|44|37.0|Non-synonymous|Line Propagating
5237170|IGL01150|4|129322875|Disrupted splicing|||MGI:1194912|Rbbp4|retinoblastoma binding protein 4 [Source:MGI Symbol;Acc:MGI:1194912]|Heterozygous||T|C|42|39.0|Splice|Line Propagating
5237171|IGL01150|3|32712164|I->V||Benign|MGI:1861453|Actl6a|actin-like 6A [Source:MGI Symbol;Acc:MGI:1861453]|Heterozygous||A|G|40|37.0|Non-synonymous|Line Propagating
5237172|IGL01150|9|19375239|I->N|1.0|Probably damaging|MGI:3030681|Olfr847|olfactory receptor 847 [Source:MGI Symbol;Acc:MGI:3030681]|Heterozygous||A|T|40|39.0|Non-synonymous|Line Propagating
5237173|IGL01150|14|29183641|V->I|0.92|Possibly damaging|MGI:1338890|Cacna2d3|calcium channel, voltage-dependent, alpha2/delta subunit 3 [Source:MGI Symbol;Acc:MGI:1338890]|Heterozygous|Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity.|C|T|39|37.0|Non-synonymous|Line Propagating
5237174|IGL01150|2|164732203|Disrupted splicing|||MGI:1923897|Wfdc3|WAP four-disulfide core domain 3 [Source:MGI Symbol;Acc:MGI:1923897]|Heterozygous||A|T|39|37.0|Splice|Line Propagating
5237175|IGL01150|11|102393776|V->A|0.79|Possibly damaging|MGI:1858752|Rundc3a|RUN domain containing 3A [Source:MGI Symbol;Acc:MGI:1858752]|Heterozygous||T|C|36|34.5|Non-synonymous|Line Propagating
5237176|IGL01150|11|106777432|Disrupted splicing|||MGI:1354947|Polg2|polymerase (DNA directed), gamma 2, accessory subunit [Source:MGI Symbol;Acc:MGI:1354947]|Heterozygous||T|C|33|37.0|Splice|Line Propagating
5237177|IGL01150|13|54731118|S->T||Benign|MGI:2687323|Cdhr2|cadherin-related family member 2 [Source:MGI Symbol;Acc:MGI:2687323]|Heterozygous||T|A|31|36.0|Non-synonymous|Line Propagating
5237178|IGL01150|11|4076238|Disrupted splicing|||MGI:3617848|Sec14l3|SEC14-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3617848]|Heterozygous||T|C|30|34.0|Splice|Line Propagating
5237179|IGL01150|5|35281141|F->S|1.0|Probably damaging|MGI:87936|Adra2c|adrenergic receptor, alpha 2c [Source:MGI Symbol;Acc:MGI:87936]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are viable and fertile and appear grossly normal.|T|C|29|35.0|Non-synonymous|Line Propagating
5237180|IGL01150|5|8702550|D->G|0.77|Possibly damaging|MGI:97570|Abcb1a|ATP-binding cassette, sub-family B (MDR/TAP), member 1A [Source:MGI Symbol;Acc:MGI:97570]|Heterozygous|Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine.|A|G|26|36.0|Non-synonymous|Line Propagating
5237181|IGL01150|5|14676912|I->T|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|T|C|26|38.0|Non-synonymous|Line Propagating
5237182|IGL01150|6|149068085|V->A|0.02|Benign|MGI:2444273|Dennd5b|DENN/MADD domain containing 5B [Source:MGI Symbol;Acc:MGI:2444273]|Heterozygous||A|G|19|38.0|Non-synonymous|Line Propagating
5237185|IGL01150|10|5443154|S->P|1.0|Probably damaging|MGI:1927152|Syne1|Nesprin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q6ZWR6]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|A|G|14|34.5|Non-synonymous|Line Propagating
5237186|IGL01150|13|14195374|Q->Stop||N/A|MGI:2137512|Arid4b|AT rich interactive domain 4B (RBP1-like) [Source:MGI Symbol;Acc:MGI:2137512]|Heterozygous|Mice homozygous for a null allele die pre-implantation.|C|T|12|40.5|Non-synonymous|Line Propagating
5237187|IGL01150|19|56930186|Y->C|0.92|Possibly damaging|MGI:2147658|Afap1l2|actin filament associated protein 1-like 2 [Source:MGI Symbol;Acc:MGI:2147658]|Heterozygous||T|C|11|39.0|Non-synonymous|Line Propagating
5237188|IGL01150|1|151717721|V->A|0.01|Benign|MGI:2137237|Fam129a|family with sequence similarity 129, member A [Source:MGI Symbol;Acc:MGI:2137237]|Heterozygous|Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities.|T|C|10|35.5|Non-synonymous|Line Propagating
5237751|IGL01151|7|15758591|I->T|||MGI:2149035|Obox5|oocyte specific homeobox 5 [Source:MGI Symbol;Acc:MGI:2149035]|Heterozygous||T|C|203|37.0|Non-synonymous|Line Propagating
5237752|IGL01151|7|85857878|Y->F|1.0|Probably damaging|MGI:3646433|Vmn2r73|vomeronasal 2, receptor 73 [Source:MGI Symbol;Acc:MGI:3646433]|Heterozygous||T|A|182|37.0|Non-synonymous|Line Propagating
5237753|IGL01151|9|109721780|V->A|0.23|Benign|MGI:3646662|Fbxw26|F-box and WD-40 domain protein 26 [Source:MGI Symbol;Acc:MGI:3646662]|Heterozygous||A|G|152|39.0|Non-synonymous|Line Propagating
5237754|IGL01151|13|100299093|Y->F||Benign|MGI:1298222|Naip6|NLR family, apoptosis inhibitory protein 6 [Source:MGI Symbol;Acc:MGI:1298222]|Heterozygous||T|A|136|39.0|Non-synonymous|Line Propagating
5237755|IGL01151|2|87607979|D->V|0.93|Possibly damaging|MGI:3030964|Olfr1130|olfactory receptor 1130 [Source:MGI Symbol;Acc:MGI:3030964]|Heterozygous||A|T|111|37.0|Non-synonymous|Line Propagating
5237756|IGL01151|1|130422906|V->E|0.81|Possibly damaging|MGI:104849|Daf2|decay accelerating factor 2 [Source:MGI Symbol;Acc:MGI:104849]|Heterozygous||A|T|91|35.0|Non-synonymous|Line Propagating
5237757|IGL01151|1|165321509|L->F|||MGI:2685054|Gpr161|G protein-coupled receptor 161 [Source:MGI Symbol;Acc:MGI:2685054]|Heterozygous||G|T|75|39.0|Non-synonymous|Line Propagating
5237758|IGL01151|11|83487371|S->P|0.96|Probably damaging|MGI:1917689|Taf15|TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:1917689]|Heterozygous||T|C|71|37.0|Non-synonymous|Line Propagating
5237759|IGL01151|17|27091529|F->V|0.72|Possibly damaging|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|T|G|69|36.0|Non-synonymous|Line Propagating
5237760|IGL01151|8|61020077|Y->C|1.0|Probably damaging|MGI:97303|Nek1|NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]|Heterozygous|Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.|A|G|68|37.0|Non-synonymous|Line Propagating
5237761|IGL01151|15|81623472|M->K||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|T|A|52|38.0|Non-synonymous|Line Propagating
5237762|IGL01151|1|170589276|I->N|0.92|Possibly damaging|MGI:1917979|Nos1ap|nitric oxide synthase 1 (neuronal) adaptor protein [Source:MGI Symbol;Acc:MGI:1917979]|Heterozygous||A|T|51|35.0|Non-synonymous|Line Propagating
5237763|IGL01151|13|112493651|S->T||Benign|MGI:96560|Il6st|interleukin 6 signal transducer [Source:MGI Symbol;Acc:MGI:96560]|Heterozygous|Homozygotes for targeted null mutations show myocardial and hematological defects and die between embryonic day 12.5 and term. Conditional mutants show female infertility and neurological, cardiac, hematopoietic, immunological, hepatic, and lung defects.|T|A|49|39.0|Non-synonymous|Line Propagating
5237764|IGL01151|18|37412195|I->N|0.82|Possibly damaging|MGI:2136745|Pcdhb10|protocadherin beta 10 [Source:MGI Symbol;Acc:MGI:2136745]|Heterozygous||T|A|47|37.0|Non-synonymous|Line Propagating
5237765|IGL01151|4|133411989|I->F|0.99|Probably damaging|MGI:102462|Slc9a1|solute carrier family 9 (sodium/hydrogen exchanger), member 1 [Source:MGI Symbol;Acc:MGI:102462]|Heterozygous|Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.|A|T|47|37.0|Non-synonymous|Line Propagating
5237766|IGL01151|8|81013840|S->R|0.92|Possibly damaging|MGI:1922091|Usp38|ubiquitin specific peptidase 38 [Source:MGI Symbol;Acc:MGI:1922091]|Heterozygous||A|T|44|36.0|Non-synonymous|Line Propagating
5237767|IGL01151|3|142500594|L->P|1.0|Probably damaging|MGI:2429943|Gbp5|guanylate binding protein 5 [Source:MGI Symbol;Acc:MGI:2429943]|Heterozygous||T|C|43|39.0|Non-synonymous|Line Propagating
5237768|IGL01151|12|85171736|L->P|1.0|Probably damaging|MGI:105095|Pgf|placental growth factor [Source:MGI Symbol;Acc:MGI:105095]|Heterozygous|Mice homozygous for disruptions in this gene display subtle abnormalities related to reduced angiogenesis. Body weight at birth is reduced and body fat is significantly reduced.|A|G|42|38.0|Non-synonymous|Line Propagating
5237769|IGL01151|3|104051374|G->V|||MGI:1923484|Magi3|membrane associated guanylate kinase, WW and PDZ domain containing 3 [Source:MGI Symbol;Acc:MGI:1923484]|Heterozygous||C|A|42|40.0|Non-synonymous|Line Propagating
5237770|IGL01151|8|91275149|L->P|0.99|Probably damaging|MGI:1920563|Rpgrip1l|Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563]|Heterozygous|Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.|A|G|33|37.0|Non-synonymous|Line Propagating
5237771|IGL01151|14|20765959|D->G|1.0|Probably damaging|MGI:88259|Camk2g|calcium/calmodulin-dependent protein kinase II gamma [Source:MGI Symbol;Acc:MGI:88259]|Heterozygous|Mice homozygous for a knock-out allele exhibit female infertility and decreased sensitivity of macrophages to ER stress-induced apoptosis.|T|C|30|38.0|Non-synonymous|Line Propagating
5237772|IGL01151|6|128435791|T->A|0.72|Possibly damaging|MGI:95543|Fkbp4|FK506 binding protein 4 [Source:MGI Symbol;Acc:MGI:95543]|Heterozygous|Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation.|T|C|30|35.5|Non-synonymous|Line Propagating
5237773|IGL01151|8|15029176|D->Y|1.0|Probably damaging|MGI:1922151|Kbtbd11|kelch repeat and BTB (POZ) domain containing 11 [Source:MGI Symbol;Acc:MGI:1922151]|Heterozygous||G|T|30|34.0|Non-synonymous|Line Propagating
5237774|IGL01151|7|119477219|V->A|0.98|Probably damaging|MGI:102674|Umod|uromodulin [Source:MGI Symbol;Acc:MGI:102674]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptible to bladder infection and abnormal kidney function. Mice homozygous for an ENU-generated allele exhibit abnormal kidney function and decreased metabolic rate, weight, and bone density.|A|G|25|38.0|Non-synonymous|Line Propagating
5237775|IGL01151|7|92605200|Disrupted splicing|||MGI:1921095|Ankrd42|ankyrin repeat domain 42 [Source:MGI Symbol;Acc:MGI:1921095]|Heterozygous||A|G|22|36.5|Splice|Line Propagating
5237776|IGL01151|19|24138810|I->T|0.94|Possibly damaging|MGI:1341872|Tjp2|tight junction protein 2 [Source:MGI Symbol;Acc:MGI:1341872]|Heterozygous|Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.|A|G|17|38.0|Non-synonymous|Line Propagating
5237778|IGL01151|13|81405399|Q->R|0.3|Benign|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|C|12|40.0|Non-synonymous|Line Propagating
5237779|IGL01151|7|119718195|R->Q|0.96|Probably damaging|MGI:2444479|Thumpd1|THUMP domain containing 1 [Source:MGI Symbol;Acc:MGI:2444479]|Heterozygous||C|T|11|39.0|Non-synonymous|Line Propagating
5238353|IGL01152|11|33623620|Disrupted splicing|||MGI:2685092|D130052b06rik|RIKEN cDNA D130052B06 gene [Source:MGI Symbol;Acc:MGI:2685092]|Heterozygous||G|T|475|35.0|Splice|Alive, Line Propagating
5238354|IGL01152|7|108346949|A->T||Benign|MGI:3030327|Olfr493|olfactory receptor 493 [Source:MGI Symbol;Acc:MGI:3030327]|Heterozygous||C|T|177|39.0|Non-synonymous|Alive, Line Propagating
5238355|IGL01152|3|89230754|T->K|0.26|Benign|MGI:97231|Muc1|mucin 1, transmembrane [Source:MGI Symbol;Acc:MGI:97231]|Heterozygous|Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation.|C|A|151|39.0|Non-synonymous|Alive, Line Propagating
5238356|IGL01152|11|97337411|E->G|0.04|Benign|MGI:2443409|Gpr179|G protein-coupled receptor 179 [Source:MGI Symbol;Acc:MGI:2443409]|Heterozygous||T|C|144|37.0|Non-synonymous|Alive, Line Propagating
5238357|IGL01152|2|121370795|M->T||Benign|MGI:2153816|Strc|stereocilin [Source:MGI Symbol;Acc:MGI:2153816]|Heterozygous|Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology.|A|G|131|35.0|Non-synonymous|Alive, Line Propagating
5238358|IGL01152|5|121463799|I->V|||MGI:1924712|Tmem116|transmembrane protein 116 [Source:MGI Symbol;Acc:MGI:1924712]|Heterozygous||A|G|107|39.0|Non-synonymous|Alive, Line Propagating
5238359|IGL01152|9|19920949|V->M|1.0|Probably damaging|MGI:2153206|Olfr77|olfactory receptor 77 [Source:MGI Symbol;Acc:MGI:2153206]|Heterozygous||G|A|103|38.0|Non-synonymous|Alive, Line Propagating
5238360|IGL01152|2|134813659|Y->C|1.0|Probably damaging|MGI:97613|Plcb1|phospholipase C, beta 1 [Source:MGI Symbol;Acc:MGI:97613]|Heterozygous|Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo.|A|G|101|39.0|Non-synonymous|Alive, Line Propagating
5238361|IGL01152|14|56552300|N->S||Benign|MGI:2684927|Cenpj|centromere protein J [Source:MGI Symbol;Acc:MGI:2684927]|Heterozygous||T|C|98|38.0|Non-synonymous|Alive, Line Propagating
5238362|IGL01152|12|104471605|K->N|1.0|Probably damaging|MGI:95841|Gsc|goosecoid homeobox [Source:MGI Symbol;Acc:MGI:95841]|Heterozygous|Homozygotes for targeted null mutations exhibit craniofacial abnormalities affecting the mandible, nasal cavities and pits, tongue, and inner ear, and skeletal defects involving ribs, sternum, shoulder and hip. Mutants die neonatally.|C|A|97|35.0|Non-synonymous|Alive, Line Propagating
5238363|IGL01152|15|68110504|R->S|0.98|Probably damaging|MGI:2681865|Zfat|zinc finger and AT hook domain containing [Source:MGI Symbol;Acc:MGI:2681865]|Heterozygous||T|A|92|37.0|Non-synonymous|Alive, Line Propagating
5238364|IGL01152|12|80199046|K->R|1.0|Probably damaging|MGI:2137706|Actn1|actinin, alpha 1 [Source:MGI Symbol;Acc:MGI:2137706]|Heterozygous||T|C|87|35.0|Non-synonymous|Alive, Line Propagating
5238365|IGL01152|15|83613570|F->I|1.0|Probably damaging|MGI:1890616|Scube1|signal peptide, CUB domain, EGF-like 1 [Source:MGI Symbol;Acc:MGI:1890616]|Heterozygous|A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia.|A|T|85|34.0|Non-synonymous|Alive, Line Propagating
5238366|IGL01152|3|89176511|F->I|0.81|Possibly damaging|MGI:1098669|Clk2|CDC-like kinase 2 [Source:MGI Symbol;Acc:MGI:1098669]|Heterozygous||T|A|80|35.5|Non-synonymous|Alive, Line Propagating
5238367|IGL01152|2|92370639|L->P|0.17|Benign|MGI:2443769|Gyltl1b|glycosyltransferase-like 1B [Source:MGI Symbol;Acc:MGI:2443769]|Heterozygous||A|G|73|38.0|Non-synonymous|Alive, Line Propagating
5238368|IGL01152|5|75075791|I->F|1.0|Probably damaging|MGI:95843|Gsx2|GS homeobox 2 [Source:MGI Symbol;Acc:MGI:95843]|Heterozygous|Mice homozygous for a targeted null mutation die within 24 hrs after birth, displaying an early misspecification of precursors in the lateral ganglionic eminence that leads to disruptions in striatal and olfactory bulb development.|A|T|73|35.0|Non-synonymous|Alive, Line Propagating
5238369|IGL01152|2|163636911|Y->H|0.99|Probably damaging|MGI:1349457|Serinc3|serine incorporator 3 [Source:MGI Symbol;Acc:MGI:1349457]|Heterozygous||A|G|72|37.0|Non-synonymous|Alive, Line Propagating
5238370|IGL01152|16|38602239|H->L|0.92|Possibly damaging|MGI:1333857|Arhgap31|Rho GTPase activating protein 31 [Source:MGI Symbol;Acc:MGI:1333857]|Heterozygous||T|A|70|34.0|Non-synonymous|Alive, Line Propagating
5238371|IGL01152|3|105986172|D->E|0.84|Possibly damaging|MGI:106661|Ovgp1|oviductal glycoprotein 1 [Source:MGI Symbol;Acc:MGI:106661]|Heterozygous|Mice homozygous for disruptions in this gene show no phenotypic abnormalities. Female reproduction is essentially normal.|T|A|62|35.0|Non-synonymous|Alive, Line Propagating
5238372|IGL01152|4|107885006|Disrupted splicing|||MGI:1330312|Magoh|mago-nashi homolog, proliferation-associated (Drosophila) [Source:MGI Symbol;Acc:MGI:1330312]|Heterozygous|Phenotype (Marker Detail Clip): Homozygous null mutation in this gene is embryonic lethal and heterozygous mice are postnatal lethal with incomplete penetrance with reduced body size and microcephaly.|A|C|61|37.0|Splice|Alive, Line Propagating
5238373|IGL01152|1|92915899|H->R|||MGI:1914170|Rnpepl1|arginyl aminopeptidase (aminopeptidase B)-like 1 [Source:MGI Symbol;Acc:MGI:1914170]|Heterozygous||A|G|58|33.5|Non-synonymous|Alive, Line Propagating
5238374|IGL01152|16|17522453|Q->K|0.79|Possibly damaging|MGI:1914113|Lztr1|leucine-zipper-like transcriptional regulator, 1 [Source:MGI Symbol;Acc:MGI:1914113]|Heterozygous||C|A|53|37.0|Non-synonymous|Alive, Line Propagating
5238375|IGL01152|12|38084234|N->K|0.01|Benign|MGI:2442474|Dgkb|diacylglycerol kinase, beta [Source:MGI Symbol;Acc:MGI:2442474]|Heterozygous|Mice homozygous for a transposon distruption have defects in long term potentiation, synapase morphology, and in spatial reference and working memory.|T|A|50|38.5|Non-synonymous|Alive, Line Propagating
5238376|IGL01152|2|91263776|D->G||Benign|MGI:1891410|Pacsin3|protein kinase C and casein kinase substrate in neurons 3 [Source:MGI Symbol;Acc:MGI:1891410]|Heterozygous||A|G|50|35.0|Non-synonymous|Alive, Line Propagating
5238377|IGL01152|9|95692923|N->Y|0.93|Possibly damaging|MGI:1923727|Pcolce2|procollagen C-endopeptidase enhancer 2 [Source:MGI Symbol;Acc:MGI:1923727]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable abnormalities in thymus or T cell development.|A|T|50|39.0|Non-synonymous|Alive, Line Propagating
5238378|IGL01152|X|38543370|M->V|0.52|Possibly damaging|MGI:1919834|Cul4b|cullin 4B [Source:MGI Symbol;Acc:MGI:1919834]|Heterozygous||T|C|50|40.0|Non-synonymous|Alive, Line Propagating
5238379|IGL01152|1|166408478|E->G|0.99|Probably damaging|MGI:1918842|Pogk|pogo transposable element with KRAB domain [Source:MGI Symbol;Acc:MGI:1918842]|Heterozygous||T|C|46|37.0|Non-synonymous|Alive, Line Propagating
5238380|IGL01152|5|86901203|E->G|0.95|Possibly damaging|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||T|C|44|37.0|Non-synonymous|Alive, Line Propagating
5238381|IGL01152|9|110139625|E->A|0.41|Benign|MGI:1203524|Smarcc1|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 [Source:MGI Symbol;Acc:MGI:1203524]|Heterozygous|Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation.|A|C|44|39.0|Non-synonymous|Alive, Line Propagating
5238382|IGL01152|X|92119824|W->R|0.36|Benign|MGI:3045344|Mageb18|melanoma antigen family B, 18 [Source:MGI Symbol;Acc:MGI:3045344]|Heterozygous||A|G|43|38.0|Non-synonymous|Alive, Line Propagating
5238383|IGL01152|1|58413452|C->S|1.0|Probably damaging|MGI:107403|Clk1|CDC-like kinase 1 [Source:MGI Symbol;Acc:MGI:107403]|Heterozygous||A|T|41|39.0|Non-synonymous|Alive, Line Propagating
5238384|IGL01152|18|35680873|N->S||Benign|MGI:1923844|Dnajc18|DnaJ (Hsp40) homolog, subfamily C, member 18 [Source:MGI Symbol;Acc:MGI:1923844]|Heterozygous||T|C|40|37.0|Non-synonymous|Alive, Line Propagating
5238385|IGL01152|5|63806529|D->G|0.66|Possibly damaging|MGI:1920464|3110047p20rik|RIKEN cDNA 3110047P20 gene [Source:MGI Symbol;Acc:MGI:1920464]|Heterozygous||A|G|40|37.0|Non-synonymous|Alive, Line Propagating
5238386|IGL01152|10|27208429|R->H|||MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|C|T|38|39.5|Non-synonymous|Alive, Line Propagating
5238387|IGL01152|4|134325676|A->V|||MGI:2447992|Trim63|tripartite motif-containing 63 [Source:MGI Symbol;Acc:MGI:2447992]|Heterozygous|A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury.|C|T|38|38.5|Non-synonymous|Alive, Line Propagating
5238388|IGL01152|9|22435164|H->L||Benign|MGI:1915533|9530077c05rik|RIKEN cDNA 9530077C05 gene [Source:MGI Symbol;Acc:MGI:1915533]|Heterozygous||A|T|35|37.0|Non-synonymous|Alive, Line Propagating
5238389|IGL01152|11|66072056|R->H|0.94|Possibly damaging|MGI:1289279|Dnahc9|dynein, axonemal, heavy chain 9 [Source:MGI Symbol;Acc:MGI:1289279]|Heterozygous||C|T|33|39.0|Non-synonymous|Alive, Line Propagating
5238390|IGL01152|12|13360958|L->F|1.0|Probably damaging|MGI:1918419|Nbas|neuroblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1918419]|Heterozygous||C|T|32|39.0|Non-synonymous|Alive, Line Propagating
5238391|IGL01152|1|74592015|M->V|0.15|Benign|MGI:1914071|Bcs1l|BCS1-like (yeast) [Source:MGI Symbol;Acc:MGI:1914071]|Heterozygous||A|G|31|40.0|Non-synonymous|Alive, Line Propagating
5238392|IGL01152|5|8950678|V->M|0.01|Benign|MGI:97569|Abcb4|ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.|G|A|31|37.0|Non-synonymous|Alive, Line Propagating
5238393|IGL01152|14|118599385|S->P|0.98|Probably damaging|MGI:2443111|Abcc4|ATP-binding cassette, sub-family C (CFTR/MRP), member 4 [Source:MGI Symbol;Acc:MGI:2443111]|Heterozygous|Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fliud barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology.|A|G|30|35.0|Non-synonymous|Alive, Line Propagating
5238394|IGL01152|7|4784026|Disrupted splicing|||MGI:1925302|Tmem190|transmembrane protein 190 [Source:MGI Symbol;Acc:MGI:1925302]|Heterozygous||T|C|29|36.0|Splice|Alive, Line Propagating
5238395|IGL01152|10|83522886|R->Stop||N/A|MGI:2444680|Aldh1l2|aldehyde dehydrogenase 1 family, member L2 [Source:MGI Symbol;Acc:MGI:2444680]|Heterozygous||T|A|28|35.5|Non-synonymous|Alive, Line Propagating
5238396|IGL01152|7|48021486|H->R||Benign|MGI:3033139|Mrgprx1|MAS-related GPR, member X1 [Source:MGI Symbol;Acc:MGI:3033139]|Heterozygous||T|C|27|40.0|Non-synonymous|Alive, Line Propagating
5238397|IGL01152|11|55169847|Disrupted splicing|||MGI:1891430|Slc36a2|solute carrier family 36 (proton/amino acid symporter), member 2 [Source:MGI Symbol;Acc:MGI:1891430]|Heterozygous||T|A|26|36.5|Splice|Alive, Line Propagating
5238398|IGL01152|5|150542390|N->I|0.74|Possibly damaging|MGI:109337|Brca2|breast cancer 2 [Source:MGI Symbol;Acc:MGI:109337]|Heterozygous|Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas.|A|T|26|39.5|Non-synonymous|Alive, Line Propagating
5238399|IGL01152|1|192833639|I->L||Unknown|MGI:2445118|A730013g03rik|RIKEN cDNA A730013G03 gene [Source:MGI Symbol;Acc:MGI:2445118]|Heterozygous||T|G|22|35.0|Non-synonymous|Alive, Line Propagating
5238400|IGL01152|12|30001937|D->E|0.7|Possibly damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||T|A|22|39.0|Non-synonymous|Alive, Line Propagating
5238401|IGL01152|5|67847206|P->Q|0.1|Benign|MGI:1330848|Atp8a1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:MGI Symbol;Acc:MGI:1330848]|Heterozygous|Homozygous mutant mice are viable, fertile and phenotypically normal.|G|T|22|38.0|Non-synonymous|Alive, Line Propagating
5238402|IGL01152|9|65135164|E->A|0.64|Possibly damaging|MGI:1858497|Igdcc4|immunoglobulin superfamily, DCC subclass, member 4 [Source:MGI Symbol;Acc:MGI:1858497]|Heterozygous||A|C|22|39.0|Non-synonymous|Alive, Line Propagating
5238403|IGL01152|2|58025393|I->L|0.45|Possibly damaging|MGI:2179403|Galnt5|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 [Source:MGI Symbol;Acc:MGI:2179403]|Heterozygous|An unpublished knockout mutation is reported to have no overt phenotypic consequences.|A|T|20|40.0|Non-synonymous|Alive, Line Propagating
5238404|IGL01152|3|81922211|Y->S||Unknown|MGI:3642361|Gm9989|predicted gene 9989 [Source:MGI Symbol;Acc:MGI:3642361]|Heterozygous||T|G|20|40.0|Non-synonymous|Alive, Line Propagating
5238405|IGL01152|14|73205870|S->I|0.96|Probably damaging|MGI:97874|Rb1|retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.|C|A|17|38.0|Non-synonymous|Alive, Line Propagating
5238406|IGL01152|5|53116333|H->N|0.96|Probably damaging|MGI:1916941|Sel1l3|sel-1 suppressor of lin-12-like 3 (C. elegans) [Source:MGI Symbol;Acc:MGI:1916941]|Heterozygous||G|T|17|37.0|Non-synonymous|Alive, Line Propagating
5238407|IGL01152|X|7878422|A->D||Unknown|MGI:97587|Pim2|proviral integration site 2 [Source:MGI Symbol;Acc:MGI:97587]|Heterozygous|Homozygous null mice display reduced T cell proliferation in response to suboptimal alphaCD3 activation. Mice homozygous for a null allele exhibit reduced LPS-stimulated IL6 production from splenotcytes.|C|A|16|32.0|Non-synonymous|Alive, Line Propagating
5238994|IGL01153|7|101994744|E->V|1.0|Probably damaging|MGI:2443665|Numa1|nuclear mitotic apparatus protein 1 [Source:MGI Symbol;Acc:MGI:2443665]|Heterozygous|Mice homozygous for a knock-out or hypomorphic allele exhibit embryonic lethality by E9.5.|A|T|136|37.5|Non-synonymous|Alive, Line Propagating
5238995|IGL01153|9|124124612|T->K|0.99|Probably damaging|MGI:107182|Ccr5|chemokine (C-C motif) receptor 5 [Source:MGI Symbol;Acc:MGI:107182]|Heterozygous|Mice that are homozygous for null alleles have leukocytes with defective migration and adhesion, are more susceptibility to fungal & bacterial infections, have increased length of allograft survival, and have decreased susceptibility to endotoxin shock.|C|A|104|39.0|Non-synonymous|Alive, Line Propagating
5238996|IGL01153|6|33008567|Disrupted splicing|||MGI:1913325|Chchd3|coiled-coil-helix-coiled-coil-helix domain containing 3 [Source:MGI Symbol;Acc:MGI:1913325]|Heterozygous||A|T|92|38.0|Splice|Alive, Line Propagating
5238998|IGL01153|3|113556075|V->A|0.97|Probably damaging|MGI:88019|Amy1|amylase 1, salivary [Source:MGI Symbol;Acc:MGI:88019]|Heterozygous||A|G|78|38.0|Non-synonymous|Alive, Line Propagating
5238999|IGL01153|10|129526995|I->N|0.78|Possibly damaging|MGI:3030625|Olfr791|olfactory receptor 791 [Source:MGI Symbol;Acc:MGI:3030625]|Heterozygous||T|A|76|37.0|Non-synonymous|Alive, Line Propagating
5239000|IGL01153|X|151399805|Disrupted splicing|||MGI:2387687|Fam120c|family with sequence similarity 120C [Source:MGI Symbol;Acc:MGI:2387687]|Heterozygous||T|C|65|37.0|Splice|Alive, Line Propagating
5239001|IGL01153|3|5561364|H->Q||Benign|MGI:1916672|Pex2|peroxisomal biogenesis factor 2 [Source:MGI Symbol;Acc:MGI:107486]|Heterozygous||A|T|58|38.0|Non-synonymous|Alive, Line Propagating
5239002|IGL01153|13|81419128|I->V|0.38|Benign|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|C|56|38.0|Non-synonymous|Alive, Line Propagating
5239003|IGL01153|14|101608015|D->G|0.23|Benign|MGI:2429660|Tbc1d4|TBC1 domain family, member 4 [Source:MGI Symbol;Acc:MGI:2429660]|Heterozygous|Mice homozygous for a knock-in allele show a slightly reduced body size, glucose intolerance, impaired insulin sensitivity, deregulated GLUT4 trafficking, abnormal glucose uptake in muscle and adipose cells, increased testis and heart weight in male mice, and reduced spleen weight in female mice.|T|C|51|30.0|Non-synonymous|Alive, Line Propagating
5239004|IGL01153|7|44966668|E->K|0.87|Possibly damaging|MGI:2446526|Cpt1c|carnitine palmitoyltransferase 1c [Source:MGI Symbol;Acc:MGI:2446526]|Heterozygous|Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance.|C|T|51|38.0|Non-synonymous|Alive, Line Propagating
5239005|IGL01153|7|44734568|S->P|1.0|Probably damaging|MGI:2442697|Zfp473|zinc finger protein 473 [Source:MGI Symbol;Acc:MGI:2442697]|Heterozygous||A|G|49|39.0|Non-synonymous|Alive, Line Propagating
5239006|IGL01153|14|20377881|T->A|0.74|Possibly damaging|MGI:2145567|Fam149b|family with sequence similarity 149, member B [Source:MGI Symbol;Acc:MGI:2145567]|Heterozygous||A|G|47|37.0|Non-synonymous|Alive, Line Propagating
5239007|IGL01153|7|45808389|Y->C|1.0|Probably damaging|MGI:1334255|Cyth2|cytohesin 2 [Source:MGI Symbol;Acc:MGI:1334255]|Heterozygous||T|C|47|37.0|Non-synonymous|Alive, Line Propagating
5239008|IGL01153|X|49062138|Disrupted splicing|||MGI:2384799|Enox2|ecto-NOX disulfide-thiol exchanger 2 [Source:MGI Symbol;Acc:MGI:2384799]|Heterozygous||C|A|45|40.0|Splice|Alive, Line Propagating
5239009|IGL01153|7|16837921|G->D|0.76|Possibly damaging|MGI:2142346|Strn4|striatin, calmodulin binding protein 4 [Source:MGI Symbol;Acc:MGI:2142346]|Heterozygous||G|A|40|39.0|Non-synonymous|Alive, Line Propagating
5239010|IGL01153|7|89849636|T->P|0.94|Possibly damaging|MGI:1916679|Me3|malic enzyme 3, NADP(+)-dependent, mitochondrial [Source:MGI Symbol;Acc:MGI:1916679]|Heterozygous||A|C|37|37.0|Non-synonymous|Alive, Line Propagating
5239011|IGL01153|18|22769793|R->L|1.0|Probably damaging|MGI:2441684|Nol4|nucleolar protein 4 [Source:MGI Symbol;Acc:MGI:2441684]|Heterozygous||C|A|36|38.5|Non-synonymous|Alive, Line Propagating
5239012|IGL01153|13|49711805|N->D|1.0|Probably damaging|MGI:2145219|Iars|isoleucine-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2145219]|Heterozygous||A|G|35|37.0|Non-synonymous|Alive, Line Propagating
5239013|IGL01153|3|127602406|G->R|1.0|Probably damaging|MGI:1918893|4930422g04rik|RIKEN cDNA 4930422G04 gene [Source:MGI Symbol;Acc:MGI:1918893]|Heterozygous||G|A|35|39.0|Non-synonymous|Alive, Line Propagating
5239014|IGL01153|12|102744876|Y->Stop||N/A|MGI:2443862, MGI:4845848|Tmem251,ak010878|transmembrane protein 251 [Source:MGI Symbol;Acc:MGI:2443862],cDNA sequence AK010878 [Source:MGI Symbol;Acc:MGI:4845848]|Heterozygous||T|A|34|37.0|Non-synonymous|Alive, Line Propagating
5239015|IGL01153|16|20632794|M->K|0.91|Possibly damaging|MGI:1101356|Ece2|endothelin converting enzyme 2 [Source:MGI Symbol;Acc:MGI:1101356]|Heterozygous|Homozygous mutant mice develop normally, are viable and healthy, and exhibit normal fertility in both sexes, as well as a normal life span.|T|A|30|37.0|Non-synonymous|Alive, Line Propagating
5239016|IGL01153|6|58860336|H->Q|0.23|Benign|MGI:1921248|Herc3|hect domain and RLD 3 [Source:MGI Symbol;Acc:MGI:1921248]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive, Line Propagating
5239017|IGL01153|18|31957317|Disrupted splicing|||MGI:2385067|Lims2|LIM and senescent cell antigen like domains 2 [Source:MGI Symbol;Acc:MGI:2385067]|Heterozygous|Homozygous null mice are viable and fertile with no gross abnormalities. Mice homozygous for a different targeted allele exhibit decreased fractional shortening and increased area affected following myocardial infarct.|A|G|27|35.0|Splice|Alive, Line Propagating
5239018|IGL01153|1|57965391|S->P|0.96|Probably damaging|MGI:3603813|Kctd18|potassium channel tetramerisation domain containing 18 [Source:MGI Symbol;Acc:MGI:3603813]|Heterozygous||A|G|25|36.0|Non-synonymous|Alive, Line Propagating
5239019|IGL01153|2|32725084|K->R|0.91|Possibly damaging|MGI:1351631|Sh2d3c|SH2 domain containing 3C [Source:MGI Symbol;Acc:MGI:1351631]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size.|A|G|25|39.0|Non-synonymous|Alive, Line Propagating
5239020|IGL01153|X|73780062|V->A|0.96|Probably damaging|MGI:1099463|Idh3g|isocitrate dehydrogenase 3 (NAD+), gamma [Source:MGI Symbol;Acc:MGI:1099463]|Heterozygous||A|G|24|39.0|Non-synonymous|Alive, Line Propagating
5239021|IGL01153|19|34128829|V->E|1.0|Probably damaging|MGI:1277101|Ankrd22|ankyrin repeat domain 22 [Source:MGI Symbol;Acc:MGI:1277101]|Heterozygous||A|T|22|37.5|Non-synonymous|Alive, Line Propagating
5239022|IGL01153|1|166202350|K->E|0.98|Probably damaging|MGI:2138453|Mael|maelstrom homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2138453]|Heterozygous|Male mice homozygous for a null allele are infertile and display small testes, a complete block of spermatogenesis due to apoptosis during meiotic prophase I, defects in homologous chromosome synapsis, DNA damage, reduced DNA methylation, and derepression of L1 retrotransposons in the adult testis.|T|C|20|40.0|Non-synonymous|Alive, Line Propagating
5239023|IGL01153|17|12915806|L->P|0.27|Benign|MGI:1914931|Mrpl18|mitochondrial ribosomal protein L18 [Source:MGI Symbol;Acc:MGI:1914931]|Heterozygous||A|G|19|38.0|Non-synonymous|Alive, Line Propagating
5239024|IGL01153|16|22862680|D->E|0.68|Possibly damaging|MGI:1915088|Dnajb11|DnaJ (Hsp40) homolog, subfamily B, member 11 [Source:MGI Symbol;Acc:MGI:1915088]|Heterozygous||T|A|18|36.5|Non-synonymous|Alive, Line Propagating
5239025|IGL01153|7|126871032|W->R|0.98|Probably damaging|MGI:1915919|Taok2|TAO kinase 2 [Source:MGI Symbol;Acc:MGI:1915919]|Heterozygous||A|G|17|38.0|Non-synonymous|Alive, Line Propagating
5239026|IGL01153|17|34201241|Y->C|0.05|Benign|MGI:1346527|Psmb8|proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) [Source:MGI Symbol;Acc:MGI:1346527]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens.|A|G|16|37.0|Non-synonymous|Alive, Line Propagating
5239027|IGL01153|7|127344531|Y->H|0.02|Benign|MGI:2384582|Zfp768|zinc finger protein 768 [Source:MGI Symbol;Acc:MGI:2384582]|Heterozygous||A|G|14|36.5|Non-synonymous|Alive, Line Propagating
5239028|IGL01153|8|116983810|D->V|0.98|Probably damaging|MGI:1915383|Gcsh|glycine cleavage system protein H (aminomethyl carrier) [Source:MGI Symbol;Acc:MGI:1915383]|Heterozygous||T|A|14|38.0|Non-synonymous|Alive, Line Propagating
5239029|IGL01153|17|7780042|Disrupted splicing|||MGI:1915905|Fndc1|fibronectin type III domain containing 1 [Source:MGI Symbol;Acc:MGI:1915905]|Heterozygous||A|T|13|34.0|Splice|Alive, Line Propagating
5239625|IGL01154|7|18524699|D->N|0.04|Benign|MGI:1891357|Psg25|pregnancy-specific glycoprotein 25 [Source:MGI Symbol;Acc:MGI:1891357]|Heterozygous||C|T|359|39.0|Non-synonymous|Alive, Line Propagating
5239626|IGL01154|6|67954534|Disrupted splicing|||MGI:3643848|Igkv9-123|immunoglobulin kappa variable 9-123 [Source:MGI Symbol;Acc:MGI:3643848]|Heterozygous||G|T|197|38.0|Splice|Alive, Line Propagating
5239627|IGL01154|2|90037468|L->P|||MGI:3031099|Olfr1265|olfactory receptor 1265 [Source:MGI Symbol;Acc:MGI:3031099]|Heterozygous||T|C|184|39.0|Non-synonymous|Alive, Line Propagating
5239628|IGL01154|2|121343179|T->A|1.0|Probably damaging|MGI:2443281|Ppip5k1|diphosphoinositol pentakisphosphate kinase 1 [Source:MGI Symbol;Acc:MGI:2443281]|Heterozygous||T|C|168|37.0|Non-synonymous|Alive, Line Propagating
5239629|IGL01154|8|110653607|Disrupted splicing|||MGI:2157980|Vac14|Vac14 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2157980]|Heterozygous|Mice homozygous for a null mutation display early postnatal lethality with lesions in multiple regions of the brain. Mice homozygous for a hypomorphic allele exhibit postnatal lethality, spongiform degeneration, enlarged brain ventricles and coat color dilution.|T|C|168|38.0|Splice|Alive, Line Propagating
5239631|IGL01154|16|36159937|Disrupted splicing|||MGI:3524944|Stfa2l1|stefin A2 like 1 [Source:MGI Symbol;Acc:MGI:3524944]|Heterozygous||C|T|152|39.0|Splice|Alive, Line Propagating
5239632|IGL01154|13|77281094|F->V|0.6|Possibly damaging|MGI:1919621|2210408i21rik|RIKEN cDNA 2210408I21 gene [Source:MGI Symbol;Acc:MGI:1919621]|Heterozygous||T|G|144|35.0|Non-synonymous|Alive, Line Propagating
5239633|IGL01154|10|83520373|D->G|1.0|Probably damaging|MGI:2444680|Aldh1l2|aldehyde dehydrogenase 1 family, member L2 [Source:MGI Symbol;Acc:MGI:2444680]|Heterozygous||T|C|143|38.0|Non-synonymous|Alive, Line Propagating
5239634|IGL01154|5|25284399|V->A|||MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|A|G|123|39.0|Non-synonymous|Alive, Line Propagating
5239635|IGL01154|2|91648006|Disrupted splicing|||MGI:2685857|Zfp408|zinc finger protein 408 [Source:MGI Symbol;Acc:MGI:2685857]|Heterozygous||T|C|108|35.5|Splice|Alive, Line Propagating
5239636|IGL01154|11|69641433|Disrupted splicing|||MGI:1346074|Fxr2|fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.|T|C|100|38.0|Splice|Alive, Line Propagating
5239637|IGL01154|4|149365470|F->S|0.99|Probably damaging|MGI:1927086|Ube4b|ubiquitination factor E4B, UFD2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1927086]|Heterozygous|Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities.|A|G|93|37.0|Non-synonymous|Alive, Line Propagating
5239638|IGL01154|11|36041544|L->P|1.0|Probably damaging|MGI:1345184|Tenm2|teneurin transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1345184]|Heterozygous||A|G|91|36.0|Non-synonymous|Alive, Line Propagating
5239639|IGL01154|18|37996734|S->T||Benign|MGI:2147274|Arap3|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Source:MGI Symbol;Acc:MGI:2147274]|Heterozygous||A|T|87|38.0|Non-synonymous|Alive, Line Propagating
5239640|IGL01154|7|102948839|S->P|||MGI:3030408|Olfr574|olfactory receptor 574 [Source:MGI Symbol;Acc:MGI:3030408]|Heterozygous||T|C|83|37.0|Non-synonymous|Alive, Line Propagating
5239641|IGL01154|10|111486675|N->K|0.99|Probably damaging|MGI:1855693|Nap1l1|nucleosome assembly protein 1-like 1 [Source:MGI Symbol;Acc:MGI:1855693]|Heterozygous||T|A|82|38.0|Non-synonymous|Alive, Line Propagating
5239642|IGL01154|2|154144000|D->E||Benign|MGI:1338036|Bpifa1|BPI fold containing family A, member 1 [Source:MGI Symbol;Acc:MGI:1338036]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptiblity to Mycoplasma pneumoniae infection.|T|A|80|38.0|Non-synonymous|Alive, Line Propagating
5239643|IGL01154|1|189680333|E->D|0.86|Possibly damaging|MGI:1313302|Cenpf|centromere protein F [Source:MGI Symbol;Acc:MGI:1313302]|Heterozygous||T|A|74|37.0|Non-synonymous|Alive, Line Propagating
5239644|IGL01154|4|53701074|M->V||Benign|MGI:2442443|Fsd1l|fibronectin type III and SPRY domain containing 1-like [Source:MGI Symbol;Acc:MGI:2442443]|Heterozygous||A|G|69|39.0|Non-synonymous|Alive, Line Propagating
5239645|IGL01154|2|27006194|Y->H||Benign|MGI:2685556|Adamts13|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 [Source:MGI Symbol;Acc:MGI:2685556]|Heterozygous||T|C|60|37.5|Non-synonymous|Alive, Line Propagating
5239646|IGL01154|18|43590679|Disrupted splicing|||MGI:1923467|Jakmip2|janus kinase and microtubule interacting protein 2 [Source:MGI Symbol;Acc:MGI:1923467]|Heterozygous||T|C|58|38.0|Splice|Alive, Line Propagating
5239647|IGL01154|4|14811732|Y->N|1.0|Probably damaging|MGI:1919451|Otud6b|OTU domain containing 6B [Source:MGI Symbol;Acc:MGI:1919451]|Heterozygous||A|T|57|38.0|Non-synonymous|Alive, Line Propagating
5239648|IGL01154|6|121673542|S->Stop||N/A|MGI:2449119|A2m|alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]|Heterozygous||C|A|57|37.0|Non-synonymous|Alive, Line Propagating
5239649|IGL01154|13|30757421|H->Q|1.0|Probably damaging|MGI:1096873|Irf4|interferon regulatory factor 4 [Source:MGI Symbol;Acc:MGI:1096873]|Heterozygous|Mice homozygous for disruptions in this gene display immune system abnormalities involving development of both T and B cells and affecting susceptibility to both bacterial and viral infections.|T|A|55|38.0|Non-synonymous|Alive, Line Propagating
5239650|IGL01154|7|84943521|T->A|||MGI:3642776|Vmn2r65|vomeronasal 2, receptor 65 [Source:MGI Symbol;Acc:MGI:3642776]|Heterozygous||T|C|54|38.0|Non-synonymous|Alive, Line Propagating
5239651|IGL01154|8|70242699|D->E|1.0|Probably damaging|MGI:2678085|Sugp2|SURP and G patch domain containing 2 [Source:MGI Symbol;Acc:MGI:2678085]|Heterozygous||T|A|50|37.0|Non-synonymous|Alive, Line Propagating
5239652|IGL01154|7|16723961|T->K|0.39|Benign|MGI:1347247|Ceacam9|carcinoembryonic antigen-related cell adhesion molecule 9 [Source:MGI Symbol;Acc:MGI:1347247]|Heterozygous|Animals homozygous for a mutation in this gene are fertile, viable, and exhibit normal growth and development with normal reproductive system morphology and physiology.|C|A|48|38.5|Non-synonymous|Alive, Line Propagating
5239653|IGL01154|15|74838534|Q->L||Benign|MGI:88583|Cyp11b1|cytochrome P450, family 11, subfamily b, polypeptide 1 [Source:MGI Symbol;Acc:MGI:88583]|Heterozygous|Mice homozygous for a null allele exhibit adrenal hypertrophy, abnormal organ weights, abnormal hormone levels, abnormal urine chemistry, hypokalemia, increased blood pressure, and female infertility.|T|A|47|38.0|Non-synonymous|Alive, Line Propagating
5239654|IGL01154|10|98996888|V->E|||MGI:104653|Atp2b1|ATPase, Ca++ transporting, plasma membrane 1 [Source:MGI Symbol;Acc:MGI:104653]|Heterozygous|Homozygous null mice display embryonic lethality.|T|A|46|35.0|Non-synonymous|Alive, Line Propagating
5239655|IGL01154|3|33803099|Y->F|||MGI:1914370|Ttc14|tetratricopeptide repeat domain 14 [Source:MGI Symbol;Acc:MGI:1914370]|Heterozygous||A|T|46|37.5|Non-synonymous|Alive, Line Propagating
5239656|IGL01154|3|75541233|M->R|1.0|Probably damaging|MGI:1928396|Pdcd10|programmed cell death 10 [Source:MGI Symbol;Acc:MGI:1928396]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality due to impaired hematopoeisis, vasculogenesis, and abnormal heart morphology.|A|C|45|38.0|Non-synonymous|Alive, Line Propagating
5239657|IGL01154|12|101625681|A->E|0.99|Probably damaging|MGI:2443988|Catsperb|cation channel, sperm-associated, beta [Source:MGI Symbol;Acc:MGI:2443988]|Heterozygous||C|A|43|38.0|Non-synonymous|Alive, Line Propagating
5239658|IGL01154|2|69690060|Disrupted splicing|||MGI:2444596|Fastkd1|FAST kinase domains 1 [Source:MGI Symbol;Acc:MGI:2444596]|Heterozygous||T|C|43|38.0|Splice|Alive, Line Propagating
5239659|IGL01154|7|5053268|T->I|0.11|Benign|MGI:1916242|Zfp580|zinc finger protein 580 [Source:MGI Symbol;Acc:MGI:1916242]|Heterozygous||C|T|42|35.0|Non-synonymous|Alive, Line Propagating
5239660|IGL01154|5|124410249|I->N|0.8|Possibly damaging|MGI:2384298|Sbno1|sno, strawberry notch homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2384298]|Heterozygous||A|T|41|39.0|Non-synonymous|Alive, Line Propagating
5239661|IGL01154|5|114406252|N->S|1.0|Probably damaging|MGI:1891295|Ube3b|ubiquitin protein ligase E3B [Source:MGI Symbol;Acc:MGI:1891295]|Heterozygous||A|G|40|37.0|Non-synonymous|Alive, Line Propagating
5239662|IGL01154|11|94359232|Disrupted splicing|||MGI:1923658|Abcc3|ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [Source:MGI Symbol;Acc:MGI:1923658]|Heterozygous|Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation|T|C|39|35.0|Splice|Alive, Line Propagating
5239663|IGL01154|5|147576156|Y->H|0.01|Benign|MGI:95558|Flt1|FMS-like tyrosine kinase 1 [Source:MGI Symbol;Acc:MGI:95558]|Heterozygous|Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage.|A|G|37|36.0|Non-synonymous|Alive, Line Propagating
5239664|IGL01154|15|28458656|T->S|0.32|Benign|MGI:107718|Dnahc5|dynein, axonemal, heavy chain 5 [Source:MGI Symbol;Acc:MGI:107718]|Heterozygous|Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.|A|T|36|37.0|Non-synonymous|Alive, Line Propagating
5239665|IGL01154|5|76606796|Disrupted splicing|||MGI:2681869|Cep135|centrosomal protein 135 [Source:MGI Symbol;Acc:MGI:2681869]|Heterozygous||A|T|35|36.0|Splice|Alive, Line Propagating
5239666|IGL01154|10|80313069|E->G|||MGI:1346052|Apc2|adenomatosis polyposis coli 2 [Source:MGI Symbol;Acc:MGI:1346052]|Heterozygous||A|G|33|35.0|Non-synonymous|Alive, Line Propagating
5239667|IGL01154|17|27434737|C->Stop||N/A|MGI:1351341|Grm4|glutamate receptor, metabotropic 4 [Source:MGI Symbol;Acc:MGI:1351341]|Heterozygous|Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential.|A|T|33|37.0|Non-synonymous|Alive, Line Propagating
5239669|IGL01154|9|58859079|T->A|0.39|Benign|MGI:1298209|Hcn4|hyperpolarization-activated, cyclic nucleotide-gated K+ 4 [Source:MGI Symbol;Acc:MGI:1298209]|Heterozygous|Mice homozygous for disruptions in this gene experience embryonic lethality. Death occurs between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death.|A|G|31|32.0|Non-synonymous|Alive, Line Propagating
5239670|IGL01154|5|66745958|E->Stop||N/A|MGI:1924819|Limch1|LIM and calponin homology domains 1 [Source:MGI Symbol;Acc:MGI:1924819]|Heterozygous||G|T|27|35.0|Non-synonymous|Alive, Line Propagating
5239671|IGL01154|9|111386400|D->E||Benign|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|A|27|38.0|Non-synonymous|Alive, Line Propagating
5239672|IGL01154|10|5360848|F->L|1.0|Probably damaging|MGI:1927152|Syne1|Nesprin-1 [Source:UniProtKB/Swiss-Prot;Acc:Q6ZWR6]|Heterozygous|Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.|G|T|25|39.0|Non-synonymous|Alive, Line Propagating
5239674|IGL01154|4|3585473|K->Stop||N/A|MGI:2151797|Tgs1|trimethylguanosine synthase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2151797]|Heterozygous||A|T|20|38.0|Non-synonymous|Alive, Line Propagating
5239675|IGL01154|1|13579449|Disrupted splicing|||MGI:1919515|Tram1|translocating chain-associating membrane protein 1 [Source:MGI Symbol;Acc:MGI:1919515]|Heterozygous||C|T|14|39.5|Splice|Alive, Line Propagating
5239676|IGL01154|12|104958069|F->S||Benign|MGI:2442408|4831426i19rik|RIKEN cDNA 4831426I19 gene [Source:MGI Symbol;Acc:MGI:2442408]|Heterozygous||A|G|13|33.0|Non-synonymous|Alive, Line Propagating
5239677|IGL01154|4|47208450|T->P|0.68|Possibly damaging|MGI:88449|Col15a1|collagen, type XV, alpha 1 [Source:MGI Symbol;Acc:MGI:88449]|Heterozygous|Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium.|A|C|12|34.0|Non-synonymous|Alive, Line Propagating
5239678|IGL01154|7|138882211|A->V||Benign|MGI:1289252|Ppp2r2d|protein phosphatase 2, regulatory subunit B, delta isoform [Source:MGI Symbol;Acc:MGI:1289252]|Heterozygous||C|T|10|37.0|Non-synonymous|Alive, Line Propagating
5240256|IGL01155|1|172956924|I->N|0.24|Benign|MGI:106648|Olfr16|olfactory receptor 16 [Source:MGI Symbol;Acc:MGI:106648]|Heterozygous||T|A|210|39.0|Non-synonymous|Alive, Line Propagating
5240257|IGL01155|8|45023949|A->T|0.01|Benign|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|G|A|180|38.0|Non-synonymous|Alive, Line Propagating
5240258|IGL01155|11|44404088|S->T|0.03|Benign|MGI:96540|Il12b|interleukin 12b [Source:MGI Symbol;Acc:MGI:96540]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system physiology.|T|A|162|37.0|Non-synonymous|Alive, Line Propagating
5240259|IGL01155|7|128145035|M->K|0.05|Benign|MGI:96609|Itgax|integrin alpha X [Source:MGI Symbol;Acc:MGI:96609]|Heterozygous|Mice homozygous for a targeted allele exhibit increased T cell proliferation, increased susceptibility to bacterial infection, and decreased susceptibility to EAE.|T|A|123|38.0|Non-synonymous|Alive, Line Propagating
5240260|IGL01155|5|81560893|I->N|0.14|Benign|MGI:2441950|Lphn3|latrophilin 3 [Source:MGI Symbol;Acc:MGI:2441950]|Heterozygous||T|A|103|37.0|Non-synonymous|Alive, Line Propagating
5240261|IGL01155|17|8441745|S->L|0.04|Benign|MGI:98472|T|brachyury [Source:MGI Symbol;Acc:MGI:98472]|Heterozygous|Mice carrying a t haplotype and heterozygous for a dominant brachyury allele are tailless. Mice inheriting specific combinations of t haplotypes may show transmission ratio distortion, recombination suppression, male sterility, or lethality.|C|T|95|37.0|Non-synonymous|Alive, Line Propagating
5240262|IGL01155|7|75569936|D->G|1.0|Probably damaging|MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||A|G|90|38.0|Non-synonymous|Alive, Line Propagating
5240263|IGL01155|14|70199341|V->A|1.0|Probably damaging|MGI:700013|Sorbs3|sorbin and SH3 domain containing 3 [Source:MGI Symbol;Acc:MGI:700013]|Heterozygous|Homozygous mutants are generally normal, viable, and fertile, except showing delayed wound healing in response to full-thickness skin injury in vivo.|A|G|88|38.5|Non-synonymous|Alive, Line Propagating
5240264|IGL01155|14|79384715|K->N|1.0|Probably damaging|MGI:1914147|Naa16|N(alpha)-acetyltransferase 16, NatA auxiliary subunit [Source:MGI Symbol;Acc:MGI:1914147]|Heterozygous||T|A|81|39.0|Non-synonymous|Alive, Line Propagating
5240265|IGL01155|2|65717748|S->A|0.99|Probably damaging|MGI:98248|Scn2a1|sodium channel, voltage-gated, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:98248]|Heterozygous|Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.|T|G|80|36.0|Non-synonymous|Alive, Line Propagating
5240266|IGL01155|19|46332649|V->F|0.96|Probably damaging|MGI:1914366|Cuedc2|CUE domain containing 2 [Source:MGI Symbol;Acc:MGI:1914366]|Heterozygous||C|A|71|36.0|Non-synonymous|Alive, Line Propagating
5240267|IGL01155|11|49175691|F->L|0.25|Benign|MGI:2442439|Btnl9|butyrophilin-like 9 [Source:MGI Symbol;Acc:MGI:2442439]|Heterozygous||A|G|63|37.0|Non-synonymous|Alive, Line Propagating
5240268|IGL01155|3|32542836|M->V|0.08|Benign|MGI:1914664|Mfn1|mitofusin 1 [Source:MGI Symbol;Acc:MGI:1914664]|Heterozygous|Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported.|A|G|61|38.0|Non-synonymous|Alive, Line Propagating
5240269|IGL01155|18|43981147|H->Q|0.01|Benign|MGI:1919682|Spink5|serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]|Heterozygous|Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.|T|A|59|40.0|Non-synonymous|Alive, Line Propagating
5240270|IGL01155|8|73131989|S->G||Benign|MGI:1342270|Large|like-glycosyltransferase [Source:MGI Symbol;Acc:MGI:1342270]|Heterozygous|Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months.|T|C|53|38.0|Non-synonymous|Alive, Line Propagating
5240271|IGL01155|11|78348609|N->S|1.0|Probably damaging|MGI:1328357|Unc119|unc-119 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1328357]|Heterozygous|Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months.|A|G|51|38.0|Non-synonymous|Alive, Line Propagating
5240272|IGL01155|11|107080727|T->A|0.93|Possibly damaging|MGI:2444008|Bptf|bromodomain PHD finger transcription factor [Source:MGI Symbol;Acc:MGI:2444008]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone.|T|C|50|30.5|Non-synonymous|Alive, Line Propagating
5240273|IGL01155|5|37187089|L->P|0.99|Probably damaging|MGI:2685889|Gm1043|predicted gene 1043 [Source:MGI Symbol;Acc:MGI:2685889]|Heterozygous||T|C|50|39.0|Non-synonymous|Alive, Line Propagating
5240274|IGL01155|16|33040875|V->A|0.99|Probably damaging|MGI:1916957|Iqcg|IQ motif containing G [Source:MGI Symbol;Acc:MGI:1916957]|Heterozygous||A|G|49|37.0|Non-synonymous|Alive, Line Propagating
5240275|IGL01155|2|127043445|T->K|1.0|Probably damaging|MGI:1336993|Ap4e1|adaptor-related protein complex AP-4, epsilon 1 [Source:MGI Symbol;Acc:MGI:1336993]|Heterozygous||C|A|43|40.0|Non-synonymous|Alive, Line Propagating
5240276|IGL01155|10|45353859|I->K|1.0|Probably damaging|MGI:1346013|Bves|blood vessel epicardial substance [Source:MGI Symbol;Acc:MGI:1346013]|Heterozygous|Homozygous mutation of this gene results in delayed muscle regeneration following induced injury.|T|A|36|39.0|Non-synonymous|Alive, Line Propagating
5240278|IGL01155|2|41770935|T->A|0.01|Benign|MGI:2151136|Lrp1b|low density lipoprotein-related protein 1B (deleted in tumors) [Source:MGI Symbol;Acc:MGI:2151136]|Heterozygous|Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.|T|C|34|40.0|Non-synonymous|Alive, Line Propagating
5240279|IGL01155|10|75640892|T->I|0.96|Probably damaging|MGI:1918983|Susd2|sushi domain containing 2 [Source:MGI Symbol;Acc:MGI:1918983]|Heterozygous||G|A|33|39.0|Non-synonymous|Alive, Line Propagating
5240280|IGL01155|7|143569849|Y->F|0.7|Possibly damaging|MGI:1351477|Cars|cysteinyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1351477]|Heterozygous||T|A|32|39.5|Non-synonymous|Alive, Line Propagating
5240281|IGL01155|16|15862410|S->A|0.03|Benign|MGI:1922845|Mzt2|mitotic spindle organizing protein 2 [Source:MGI Symbol;Acc:MGI:1922845]|Heterozygous||A|C|30|37.0|Non-synonymous|Alive, Line Propagating
5240282|IGL01155|5|117945926|I->N|0.99|Probably damaging|MGI:97360|Nos1|nitric oxide synthase 1, neuronal [Source:MGI Symbol;Acc:MGI:97360]|Heterozygous||T|A|29|37.0|Non-synonymous|Alive, Line Propagating
5240283|IGL01155|6|114314465|Disrupted splicing|||MGI:95627|Slc6a1|solute carrier family 6 (neurotransmitter transporter, GABA), member 1 [Source:MGI Symbol;Acc:MGI:95627]|Heterozygous|Homozygous hypomorphic mice display abnormal inhibitory postsynaptic currents, and abnormal GABA uptake and release.|A|T|28|37.0|Splice|Alive, Line Propagating
5240284|IGL01155|10|127726134|Disrupted splicing|||MGI:98476|Tac2|tachykinin 2 [Source:MGI Symbol;Acc:MGI:98476]|Heterozygous||G|A|26|36.0|Splice|Alive, Line Propagating
5240285|IGL01155|13|70604082|V->E|0.12|Benign|MGI:2385865|Bc018507|cDNA sequence BC018507 [Source:MGI Symbol;Acc:MGI:2385865]|Heterozygous||A|T|25|37.0|Non-synonymous|Alive, Line Propagating
5240286|IGL01155|1|10198982|Disrupted splicing|||MGI:2442988|Arfgef1|ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2442988]|Heterozygous||G|A|22|37.0|Splice|Alive, Line Propagating
5240287|IGL01155|9|120168234|T->K||Benign|MGI:108511|Mobp|myelin-associated oligodendrocytic basic protein [Source:MGI Symbol;Acc:MGI:108511]|Heterozygous|Mice homozygous for one null allele show abnormal myelin arrangements but do not exhibit an overt behavorial phenotype. Mice homozygous for another allele have normal myelin.|C|A|21|35.0|Non-synonymous|Alive, Line Propagating
5240288|IGL01155|4|104999386|T->I||Benign|MGI:2685466|1700024p16rik|RIKEN cDNA 1700024P16 gene [Source:MGI Symbol;Acc:MGI:2685466]|Heterozygous||C|T|19|36.0|Non-synonymous|Alive, Line Propagating
5240289|IGL01155|11|98968184|E->G|0.69|Possibly damaging|MGI:97856|Rara|retinoic acid receptor, alpha [Source:MGI Symbol;Acc:MGI:97856]|Heterozygous|Homozygotes for targeted null mutations show high neonatal mortality due to maternal cannibalization, failure to thrive, and excess mortality during the postnatal period. Male survivors exhibit testicular degeneration.|A|G|18|35.0|Non-synonymous|Alive, Line Propagating
5240290|IGL01155|19|11629655|Disrupted splicing|||MGI:2158468|Ms4a3|membrane-spanning 4-domains, subfamily A, member 3 [Source:MGI Symbol;Acc:MGI:2158468]|Heterozygous||T|C|17|39.0|Splice|Alive, Line Propagating
5240291|IGL01155|16|4547359|P->T|0.77|Possibly damaging|MGI:103239|Tfap4|transcription factor AP4 [Source:MGI Symbol;Acc:MGI:103239]|Heterozygous||G|T|16|37.0|Non-synonymous|Alive, Line Propagating
5240293|IGL01155|16|4043978|Q->Stop||N/A|MGI:1915265|Trap1|TNF receptor-associated protein 1 [Source:MGI Symbol;Acc:MGI:1915265]|Heterozygous||G|A|12|37.5|Non-synonymous|Alive, Line Propagating
5240294|IGL01155|3|82008588|T->A|0.01|Benign|MGI:1929259|Accn5|amiloride-sensitive cation channel 5, intestinal [Source:MGI Symbol;Acc:MGI:1929259]|Heterozygous||A|G|12|36.5|Non-synonymous|Alive, Line Propagating
5240295|IGL01155|7|141806943|Disrupted splicing|||MGI:104697|Muc5ac|mucin 5, subtypes A and C, tracheobronchial/gastric [Source:MGI Symbol;Acc:MGI:104697]|Heterozygous||C|T|10|39.5|Splice|Alive, Line Propagating
5240876|IGL01148|1|32545654|S->P|0.62|Possibly damaging|MGI:3644687, MGI:2159649|Khdrbs2,gm5415|KH domain containing, RNA binding, signal transduction associated 2 [Source:MGI Symbol;Acc:MGI:2159649],predicted gene 5415 [Source:MGI Symbol;Acc:MGI:3644687]|Heterozygous||A|G|164|38.0|Non-synonymous|Line Propagating
5240877|IGL01148|17|30135400|T->S||Benign|MGI:1096572|Zfand3|zinc finger, AN1-type domain 3 [Source:MGI Symbol;Acc:MGI:1096572]|Heterozygous||A|T|160|37.0|Non-synonymous|Line Propagating
5240878|IGL01148|10|89413504|G->D|0.06|Benign|MGI:1918780|Gas2l3|growth arrest-specific 2 like 3 [Source:MGI Symbol;Acc:MGI:1918780]|Heterozygous||C|T|146|38.0|Non-synonymous|Line Propagating
5240879|IGL01148|19|8948304|C->R|1.0|Probably damaging|MGI:1346340|Mta2|metastasis-associated gene family, member 2 [Source:MGI Symbol;Acc:MGI:1346340]|Heterozygous|Mice homozygous for a null allele exhibit partial embryonic and perinatal lethality, reduced weight, shortened lifespan, and increased susceptibility to systemic lupus erythematosus with increased T cell proliferation under Th2 conditions.|T|C|131|37.0|Non-synonymous|Line Propagating
5240880|IGL01148|2|130614685|F->L||Benign|MGI:2139469|Fastkd5|FAST kinase domains 5 [Source:MGI Symbol;Acc:MGI:2139469]|Heterozygous||A|G|112|38.0|Non-synonymous|Line Propagating
5240881|IGL01148|6|84908226|K->E||Benign|MGI:1923164|Exoc6b|exocyst complex component 6B [Source:MGI Symbol;Acc:MGI:1923164]|Heterozygous||T|C|108|39.0|Non-synonymous|Line Propagating
5240882|IGL01148|14|57439732|S->P|||MGI:98715|Ift88|intraflagellar transport 88 [Source:MGI Symbol;Acc:MGI:98715]|Heterozygous|Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.|T|C|83|38.0|Non-synonymous|Line Propagating
5240883|IGL01148|17|35342678|Y->C|1.0|Probably damaging|MGI:95931|H2-q2|histocompatibility 2, Q region locus 2 [Source:MGI Symbol;Acc:MGI:95931]|Heterozygous||A|G|82|35.0|Non-synonymous|Line Propagating
5240884|IGL01148|7|64243564|I->V|0.93|Possibly damaging|MGI:1330305|Trpm1|transient receptor potential cation channel, subfamily M, member 1 [Source:MGI Symbol;Acc:MGI:1330305]|Heterozygous|Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses.|A|G|81|38.0|Non-synonymous|Line Propagating
5240885|IGL01148|1|26685172|E->G|1.0|Probably damaging|MGI:3588222|4931408c20rik|RIKEN cDNA 4931408C20 gene [Source:MGI Symbol;Acc:MGI:3588222]|Heterozygous||T|C|77|39.0|Non-synonymous|Line Propagating
5240886|IGL01148|11|69890903|C->Stop||N/A|MGI:2388270|Acap1|ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Source:MGI Symbol;Acc:MGI:2388270]|Heterozygous||A|T|71|37.0|Non-synonymous|Line Propagating
5240887|IGL01148|15|32681495|V->M||Benign|MGI:107556|Sema5a|sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A [Source:MGI Symbol;Acc:MGI:107556]|Heterozygous|Homozygous null mice die between E11.5 and E12.5 and exhibit decreased complexity of the hierarchically organized branches of the cranial cardinal veins. Mice homozygous for a second targeted mutation appear normal.|G|A|70|38.0|Non-synonymous|Line Propagating
5240888|IGL01148|10|31316334|I->T|0.98|Probably damaging|MGI:1916942|Hddc2|HD domain containing 2 [Source:MGI Symbol;Acc:MGI:1916942]|Heterozygous||T|C|64|39.0|Non-synonymous|Line Propagating
5240889|IGL01148|6|131686852|R->S|0.99|Probably damaging|MGI:2681195|Tas2r105|taste receptor, type 2, member 105 [Source:MGI Symbol;Acc:MGI:2681195]|Heterozygous||T|A|63|38.0|Non-synonymous|Line Propagating
5240890|IGL01148|4|137546658|M->K||Unknown|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|T|A|47|36.0|Non-synonymous|Line Propagating
5240891|IGL01148|13|6573105|R->G||Benign|MGI:1916867|Pitrm1|pitrilysin metallepetidase 1 [Source:MGI Symbol;Acc:MGI:1916867]|Heterozygous||A|G|46|37.0|Non-synonymous|Line Propagating
5240892|IGL01148|5|31159824|K->E|1.0|Probably damaging|MGI:1919002|Gtf3c2|general transcription factor IIIC, polypeptide 2, beta [Source:MGI Symbol;Acc:MGI:1919002]|Heterozygous||T|C|43|35.0|Non-synonymous|Line Propagating
5240893|IGL01148|5|142885825|M->V|||MGI:2444450|Fbxl18|F-box and leucine-rich repeat protein 18 [Source:MGI Symbol;Acc:MGI:2444450]|Heterozygous||T|C|43|38.0|Non-synonymous|Line Propagating
5240894|IGL01148|7|26557581|E->G|1.0|Probably damaging|MGI:2675292|Nlrp9a|NLR family, pyrin domain containing 9A [Source:MGI Symbol;Acc:MGI:2675292]|Heterozygous||A|G|42|39.0|Non-synonymous|Line Propagating
5240895|IGL01148|2|57111971|V->M||Benign|MGI:1352456|Nr4a2|nuclear receptor subfamily 4, group A, member 2 [Source:MGI Symbol;Acc:MGI:1352456]|Heterozygous|Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age.|C|T|41|38.0|Non-synonymous|Line Propagating
5240896|IGL01148|2|121046675|Disrupted splicing|||MGI:1921426|Tgm5|transglutaminase 5 [Source:MGI Symbol;Acc:MGI:1921426]|Heterozygous||A|G|36|38.5|Splice|Line Propagating
5240897|IGL01148|15|89371721|I->M|0.45|Possibly damaging|MGI:3818630|Sco2|SCO cytochrome oxidase deficient homolog 2 (yeast) [Source:MGI Symbol;Acc:MGI:3818630]|Heterozygous||T|C|35|37.0|Non-synonymous|Line Propagating
5240898|IGL01148|15|82330660|Y->H|1.0|Probably damaging|MGI:1261422|Naga|N-acetyl galactosaminidase, alpha [Source:MGI Symbol;Acc:MGI:1261422]|Heterozygous||A|G|34|35.0|Non-synonymous|Line Propagating
5240899|IGL01148|6|147252575|T->M|0.97|Probably damaging|MGI:97800|Pthlh|parathyroid hormone-like peptide [Source:MGI Symbol;Acc:MGI:97800]|Heterozygous|Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption.|G|A|32|37.5|Non-synonymous|Line Propagating
5240900|IGL01148|11|98043561|K->Stop||N/A|MGI:2144518|Stac2|SH3 and cysteine rich domain 2 [Source:MGI Symbol;Acc:MGI:2144518]|Heterozygous||T|A|31|36.0|Non-synonymous|Line Propagating
5240901|IGL01148|2|120039038|F->L|0.82|Possibly damaging|MGI:2384819|Pla2g4b|phospholipase A2, group IVB (cytosolic) [Source:MGI Symbol;Acc:MGI:2384819]|Heterozygous||T|C|31|36.0|Non-synonymous|Line Propagating
5240902|IGL01148|5|93270887|D->N|0.98|Probably damaging|MGI:1095734|Ccng2|cyclin G2 [Source:MGI Symbol;Acc:MGI:1095734]|Heterozygous||G|A|27|37.0|Non-synonymous|Line Propagating
5240903|IGL01148|5|111338356|V->D|1.0|Probably damaging|MGI:1927542|Pitpnb|phosphatidylinositol transfer protein, beta [Source:MGI Symbol;Acc:MGI:1927542]|Heterozygous|Homozygous null mice die before E7.5.|T|A|27|37.0|Non-synonymous|Line Propagating
5240904|IGL01148|10|111276563|Disrupted splicing|||MGI:2443807|Osbpl8|oxysterol binding protein-like 8 [Source:MGI Symbol;Acc:MGI:2443807]|Heterozygous||G|T|24|39.5|Splice|Line Propagating
5240905|IGL01148|6|18382818|P->L|||MGI:1353467|Cttnbp2|cortactin binding protein 2 [Source:MGI Symbol;Acc:MGI:1353467]|Heterozygous||G|A|24|39.5|Non-synonymous|Line Propagating
5240906|IGL01148|17|45601668|P->T||Unknown|MGI:3649059|Gm7325|predicted gene 7325 [Source:MGI Symbol;Acc:MGI:3649059]|Heterozygous||G|T|21|36.0|Non-synonymous|Line Propagating
5240907|IGL01148|2|89326024|T->K|||MGI:3031066|Olfr1232|olfactory receptor 1232 [Source:MGI Symbol;Acc:MGI:3031066]|Heterozygous||G|T|20|39.0|Non-synonymous|Line Propagating
5240908|IGL01148|18|20320925|V->E|1.0|Probably damaging|MGI:94930|Dsg1a|desmoglein 1 alpha [Source:MGI Symbol;Acc:MGI:94930]|Heterozygous||T|A|16|41.0|Non-synonymous|Line Propagating
5240909|IGL01148|12|79260870|H->Y|0.08|Benign|MGI:1924767|Zfyve26|zinc finger, FYVE domain containing 26 [Source:MGI Symbol;Acc:MGI:1924767]|Heterozygous||G|A|12|35.0|Non-synonymous|Line Propagating
5240910|IGL01148|2|35784193|N->I|0.98|Probably damaging|MGI:1921660|Ttll11|tubulin tyrosine ligase-like family, member 11 [Source:MGI Symbol;Acc:MGI:1921660]|Heterozygous||T|A|11|33.0|Non-synonymous|Line Propagating
5241503|IGL01076|4|134749982|D->G|0.57|Possibly damaging|MGI:2140175|Ldlrap1|low density lipoprotein receptor adaptor protein 1 [Source:MGI Symbol;Acc:MGI:2140175]|Heterozygous|Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH).|T|C|19|37.0|Non-synonymous|Line Propagating
5241504|IGL01076|7|10372083|D->E|||MGI:3056574|Nlrp4d|NLR family, pyrin domain containing 4D [Source:MGI Symbol;Acc:MGI:3056574]|Heterozygous||A|T|13|38.0|Non-synonymous|Line Propagating
5241505|IGL01076|7|43954855|F->S|1.0|Probably damaging|MGI:892018|Klk1b8|kallikrein 1-related peptidase b8 [Source:MGI Symbol;Acc:MGI:892018]|Heterozygous||T|C|10|40.0|Non-synonymous|Line Propagating
5241934|IGL01091|16|32753927|I->F|0.87|Possibly damaging|MGI:2153525|Muc4|mucin 4 [Source:MGI Symbol;Acc:MGI:2153525]|Heterozygous||A|T|29|38.0|Non-synonymous|Line Propagating
5241935|IGL01091|1|129776334|F->S|0.09|Benign|MGI:2443925|Thsd7b|thrombospondin, type I, domain containing 7B [Source:MGI Symbol;Acc:MGI:2443925]|Heterozygous||T|C|14|40.0|Non-synonymous|Line Propagating
5242369|IGL01160|X|77842571|N->S|0.21|Benign|MGI:1860484|Pbsn|probasin [Source:MGI Symbol;Acc:MGI:1860484]|Heterozygous||T|C|280|36.0|Non-synonymous|Line Propagating
5242370|IGL01160|8|122408250|S->P|||MGI:1923264, MGI:5141853|Zc3h18,gm20388|zinc finger CCCH-type containing 18 [Source:MGI Symbol;Acc:MGI:1923264],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||T|C|235|34.0|Non-synonymous|Line Propagating
5242371|IGL01160|8|105986444|V->M|0.96|Probably damaging|MGI:2442042|Dpep2|dipeptidase 2 [Source:MGI Symbol;Acc:MGI:2442042]|Heterozygous||C|T|204|36.0|Non-synonymous|Line Propagating
5242372|IGL01160|7|5486478|M->K|||MGI:3645468|Vmn2r28|vomeronasal 2, receptor 28 [Source:MGI Symbol;Acc:MGI:3645468]|Heterozygous||A|T|191|39.0|Non-synonymous|Line Propagating
5242373|IGL01160|2|89125728|M->K|0.99|Probably damaging|MGI:3031056|Olfr1222|olfactory receptor 1222 [Source:MGI Symbol;Acc:MGI:3031056]|Heterozygous||A|T|166|37.0|Non-synonymous|Line Propagating
5242374|IGL01160|7|92661686|S->P|||MGI:1919579|Pcf11|cleavage and polyadenylation factor subunit homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919579]|Heterozygous||A|G|142|38.0|Non-synonymous|Line Propagating
5242375|IGL01160|13|23461737|T->M||Benign|MGI:103118|Btn1a1|butyrophilin, subfamily 1, member A1 [Source:MGI Symbol;Acc:MGI:103118]|Heterozygous|Homozygous null mice display impaired lactation and abnormal lipid accumulation in the mammary gland.|G|A|113|38.0|Non-synonymous|Line Propagating
5242376|IGL01160|5|109557570|T->A|0.57|Possibly damaging|MGI:1889506|Crlf2|cytokine receptor-like factor 2 [Source:MGI Symbol;Acc:MGI:1889506]|Heterozygous|Homozygous null mice are overtly normal and maintain normal lymphopoiesis.|T|C|99|33.0|Non-synonymous|Line Propagating
5242377|IGL01160|7|44998796|D->E|0.81|Possibly damaging|MGI:1859179|Irf3|interferon regulatory factor 3 [Source:MGI Symbol;Acc:MGI:1859179]|Heterozygous|Homozygous null mice are more susceptible to viral infection and exhibit lower serum interferon levels in response to viral infection.|C|A|99|35.0|Non-synonymous|Line Propagating
5242378|IGL01160|5|31110185|V->A|0.09|Benign|MGI:3045263|Dnajc5g|DnaJ (Hsp40) homolog, subfamily C, member 5 gamma [Source:MGI Symbol;Acc:MGI:3045263]|Heterozygous||T|C|98|36.0|Non-synonymous|Line Propagating
5242379|IGL01160|13|58381976|V->A|||MGI:1917403|2210016f16rik|RIKEN cDNA 2210016F16 gene [Source:MGI Symbol;Acc:MGI:1917403]|Heterozygous||A|G|95|34.0|Non-synonymous|Line Propagating
5242380|IGL01160|15|74980032|I->N|0.49|Possibly damaging|MGI:1888480|Ly6i|lymphocyte antigen 6 complex, locus I [Source:MGI Symbol;Acc:MGI:1888480]|Heterozygous||A|T|77|37.0|Non-synonymous|Line Propagating
5242381|IGL01160|17|37806050|R->G|0.91|Possibly damaging|MGI:2177507|Olfr124|olfactory receptor 124 [Source:MGI Symbol;Acc:MGI:2177507]|Heterozygous||A|G|74|38.0|Non-synonymous|Line Propagating
5242382|IGL01160|19|7003258|A->T||Benign|MGI:2147790|Fermt3|fermitin family homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2147790]|Heterozygous|Disruption of this marker results in lethality in the first week after birth, abnormal erythropoiesis and platelet function, and severe hemorrhage.|C|T|72|35.0|Non-synonymous|Line Propagating
5242383|IGL01160|13|25119329|D->G|0.02|Benign|MGI:2652818|Dcdc2a|doublecortin domain containing 2a [Source:MGI Symbol;Acc:MGI:2652818]|Heterozygous||A|G|69|35.0|Non-synonymous|Line Propagating
5242384|IGL01160|17|12704775|D->G||Benign|MGI:96435|Igf2r|insulin-like growth factor 2 receptor [Source:MGI Symbol;Acc:MGI:96435]|Heterozygous||T|C|59|37.0|Non-synonymous|Line Propagating
5242385|IGL01160|3|55121756|F->I|1.0|Probably damaging|MGI:2139806|Spg20|spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) [Source:MGI Symbol;Acc:MGI:2139806]|Heterozygous||T|A|57|36.0|Non-synonymous|Line Propagating
5242386|IGL01160|13|67391013|S->L|1.0|Probably damaging|MGI:1920057|Zfp429|zinc finger protein 429 [Source:MGI Symbol;Acc:MGI:1920057]|Heterozygous||G|A|53|35.0|Non-synonymous|Line Propagating
5242387|IGL01160|14|54735124|V->A|0.99|Probably damaging|MGI:1355323|Slc7a8|solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 [Source:MGI Symbol;Acc:MGI:1355323]|Heterozygous|Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures.|A|G|44|35.0|Non-synonymous|Line Propagating
5242388|IGL01160|16|35947998|I->F|1.0|Probably damaging|MGI:1933117|Parp9|poly (ADP-ribose) polymerase family, member 9 [Source:MGI Symbol;Acc:MGI:1933117]|Heterozygous||A|T|44|36.0|Non-synonymous|Line Propagating
5242389|IGL01160|5|30381535|M->K||Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|T|43|35.0|Non-synonymous|Line Propagating
5242390|IGL01160|6|24876481|S->T|0.52|Possibly damaging|MGI:1921718|Hyal5|hyaluronoglucosaminidase 5 [Source:MGI Symbol;Acc:MGI:1921718]|Heterozygous|Reproduction is normal in mice with null mutations at this marker.|T|A|41|35.0|Non-synonymous|Line Propagating
5242391|IGL01160|X|75288061|M->K|0.54|Possibly damaging|MGI:88383|F8|coagulation factor VIII [Source:MGI Symbol;Acc:MGI:88383]|Heterozygous|Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.|A|T|40|39.0|Non-synonymous|Line Propagating
5242392|IGL01160|14|52183132|D->E|||MGI:1890948|Supt16h|suppressor of Ty 16 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1890948]|Heterozygous||A|T|39|37.0|Non-synonymous|Line Propagating
5242393|IGL01160|2|111983933|L->P|0.96|Probably damaging|MGI:3031143|Olfr1309|olfactory receptor 1309 [Source:MGI Symbol;Acc:MGI:3031143]|Heterozygous||A|G|37|37.0|Non-synonymous|Line Propagating
5242394|IGL01160|12|72579377|V->G|1.0|Probably damaging|MGI:1914958|Pcnxl4|pecanex-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1914958]|Heterozygous||T|G|35|35.0|Non-synonymous|Line Propagating
5242395|IGL01160|9|103480168|V->A||Benign|MGI:1333828|Bfsp2|beaded filament structural protein 2, phakinin [Source:MGI Symbol;Acc:MGI:1333828]|Heterozygous|Mutations at this locus result in eye abnormalities.|A|G|33|35.0|Non-synonymous|Line Propagating
5242396|IGL01160|10|77770883|C->F|||MGI:3781416|Gm3238|predicted gene 3238 [Source:MGI Symbol;Acc:MGI:3781416]|Heterozygous||C|A|31|35.0|Non-synonymous|Line Propagating
5242397|IGL01160|9|20917319|P->S||Benign|MGI:94912|Dnmt1|DNA methyltransferase (cytosine-5) 1 [Source:MGI Symbol;Acc:MGI:94912]|Heterozygous|Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci.|G|A|31|37.0|Non-synonymous|Line Propagating
5242398|IGL01160|7|3675518|Y->C|||MGI:2669035|Tmc4|transmembrane channel-like gene family 4 [Source:MGI Symbol;Acc:MGI:2669035]|Heterozygous||T|C|29|36.0|Non-synonymous|Line Propagating
5242399|IGL01160|9|45942726|L->P|1.0|Probably damaging|MGI:2446134|Sidt2|SID1 transmembrane family, member 2 [Source:MGI Symbol;Acc:MGI:2446134]|Heterozygous||A|G|29|34.0|Non-synonymous|Line Propagating
5242400|IGL01160|X|83924961|L->P|0.99|Probably damaging|MGI:94909|Dmd|dystrophin, muscular dystrophy [Source:MGI Symbol;Acc:MGI:94909]|Heterozygous|Hemizygous males and homozygous mutant females show progressive muscle atrophy, increased K+ and Ca+ in muscle with age, increased blood pyruvate kinase and other symptoms of Duchenne and Becker muscular dystrophy. Alleles vary in severity and may include cardiovascular and digestive system defects.|T|C|27|37.0|Non-synonymous|Line Propagating
5242401|IGL01160|8|12844609|T->A|0.04|Benign|MGI:1354735|Atp11a|ATPase, class VI, type 11A [Source:MGI Symbol;Acc:MGI:1354735]|Heterozygous||A|G|26|35.0|Non-synonymous|Line Propagating
5242402|IGL01160|3|145507713|G->S|1.0|Probably damaging|MGI:1918605|Col24a1|collagen, type XXIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1918605]|Heterozygous||G|A|23|35.0|Non-synonymous|Line Propagating
5242403|IGL01160|9|106906688|S->R|||MGI:2429763|Dock3|dedicator of cyto-kinesis 3 [Source:MGI Symbol;Acc:MGI:2429763]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy.|A|T|23|36.0|Non-synonymous|Line Propagating
5242404|IGL01160|7|103787636|G->R|||MGI:1341911|Olfr67|olfactory receptor 67 [Source:MGI Symbol;Acc:MGI:1341911]|Heterozygous||C|T|20|39.0|Non-synonymous|Line Propagating
5242405|IGL01160|11|5531532|S->G|0.04|Benign|MGI:2144383|Ccdc117|coiled-coil domain containing 117 [Source:MGI Symbol;Acc:MGI:2144383]|Heterozygous||T|C|19|38.0|Non-synonymous|Line Propagating
5242406|IGL01160|5|69519317|I->V|0.01|Benign|MGI:1922831|Yipf7|Yip1 domain family, member 7 [Source:MGI Symbol;Acc:MGI:1922831]|Heterozygous||T|C|18|37.0|Non-synonymous|Line Propagating
5242407|IGL01160|7|97685584|T->M|1.0|Probably damaging|MGI:2682305|Rsf1|remodeling and spacing factor 1 [Source:MGI Symbol;Acc:MGI:2682305]|Heterozygous||C|T|16|35.0|Non-synonymous|Line Propagating
5242408|IGL01160|2|122524796|Disrupted splicing|||MGI:3702173|Gm14085|predicted gene 14085 [Source:MGI Symbol;Acc:MGI:3702173]|Heterozygous||A|C|308|37.0|Splice|Line Propagating
5242409|IGL01160|14|53505782|Disrupted splicing|||MGI:3525635, MGI:1345654, MGI:3042921, MGI:2150405, MGI:3656498|Ac161872.5||Heterozygous||G|A|100|39.0|Splice|Line Propagating
5242410|IGL01160|2|140825042|Disrupted splicing|||MGI:1920149|Macrod2|MACRO domain containing 2 [Source:MGI Symbol;Acc:MGI:1920149]|Heterozygous||T|C|66|37.0|Splice|Line Propagating
5242411|IGL01160|2|113287798|Disrupted splicing|||MGI:1922525|Tmco5b|transmembrane and coiled-coil domains 5B [Source:MGI Symbol;Acc:MGI:1922525]|Heterozygous||G|T|63|37.0|Splice|Line Propagating
5242412|IGL01160|7|19307114|Disrupted splicing|||MGI:95575|Fosb|FBJ osteosarcoma oncogene B [Source:MGI Symbol;Acc:MGI:95575]|Heterozygous||A|G|62|35.0|Splice|Line Propagating
5242413|IGL01160|X|134060729|Disrupted splicing|||MGI:1343054|Cstf2|cleavage stimulation factor, 3' pre-RNA subunit 2 [Source:MGI Symbol;Acc:MGI:1343054]|Heterozygous||T|A|53|35.0|Splice|Line Propagating
5242414|IGL01160|19|3276750|Disrupted splicing|||MGI:99954|Ighmbp2|immunoglobulin mu binding protein 2 [Source:MGI Symbol;Acc:MGI:99954]|Heterozygous|Mutations in this gene result in progressive degeneration of spinal motor neurons and muscle atrophy.|G|T|34|36.5|Splice|Line Propagating
5243021|IGL01161|3|36090125|N->T|0.84|Possibly damaging|MGI:1914272|Acad9|acyl-Coenzyme A dehydrogenase family, member 9 [Source:MGI Symbol;Acc:MGI:1914272]|Heterozygous||A|C|234|36.0|Non-synonymous|Line Propagating
5243022|IGL01161|15|74813839|Y->S|1.0|Probably damaging|MGI:3644767|Gml|GPI anchored molecule like protein [Source:MGI Symbol;Acc:MGI:3644767]|Heterozygous||T|G|190|36.0|Non-synonymous|Line Propagating
5243023|IGL01161|2|164885788|L->H|0.99|Probably damaging|MGI:2443858|Pcif1|PDX1 C-terminal inhibiting factor 1 [Source:MGI Symbol;Acc:MGI:2443858]|Heterozygous||T|A|102|32.5|Non-synonymous|Line Propagating
5243024|IGL01161|7|104688381|V->A|0.19|Benign|MGI:3030495|Olfr661|olfactory receptor 661 [Source:MGI Symbol;Acc:MGI:3030495]|Heterozygous||T|C|78|39.0|Non-synonymous|Line Propagating
5243025|IGL01161|2|30255810|L->Q|0.9|Possibly damaging|MGI:2652847|Lrrc8a|leucine rich repeat containing 8A [Source:MGI Symbol;Acc:MGI:2652847]|Heterozygous||T|A|77|35.0|Non-synonymous|Line Propagating
5243026|IGL01161|11|21323273|I->L|0.9|Possibly damaging|MGI:2183447|Ugp2|UDP-glucose pyrophosphorylase 2 [Source:MGI Symbol;Acc:MGI:2183447]|Heterozygous||T|A|68|36.0|Non-synonymous|Line Propagating
5243027|IGL01161|7|17151857|N->K||Benign|MGI:3646296|Ceacam3|carcinoembryonic antigen-related cell adhesion molecule 3 [Source:MGI Symbol;Acc:MGI:3646296]|Heterozygous||T|A|68|35.0|Non-synonymous|Line Propagating
5243028|IGL01161|11|35867276|D->Y|1.0|Probably damaging|MGI:2388637|Wwc1|WW, C2 and coiled-coil domain containing 1 [Source:MGI Symbol;Acc:MGI:2388637]|Heterozygous||C|A|64|35.0|Non-synonymous|Line Propagating
5243029|IGL01161|10|18093895|S->P|0.94|Possibly damaging|MGI:1196373|Reps1|RalBP1 associated Eps domain containing protein [Source:MGI Symbol;Acc:MGI:1196373]|Heterozygous||T|C|57|37.0|Non-synonymous|Line Propagating
5243030|IGL01161|10|115202530|I->V|0.98|Probably damaging|MGI:1913937|Tbc1d15|TBC1 domain family, member 15 [Source:MGI Symbol;Acc:MGI:1913937]|Heterozygous||T|C|53|35.0|Non-synonymous|Line Propagating
5243031|IGL01161|10|75926821|M->K||Benign|MGI:97008|Mmp11|matrix metallopeptidase 11 [Source:MGI Symbol;Acc:MGI:97008]|Heterozygous|Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas.|A|T|48|30.5|Non-synonymous|Line Propagating
5243032|IGL01161|4|108681064|H->Y|0.19|Benign|MGI:2652838|Zfyve9|zinc finger, FYVE domain containing 9 [Source:MGI Symbol;Acc:MGI:2652838]|Heterozygous||G|A|44|36.0|Non-synonymous|Line Propagating
5243033|IGL01161|11|55284191|N->D||Benign|MGI:2685369|Fat2|FAT tumor suppressor homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685369]|Heterozygous||T|C|41|36.0|Non-synonymous|Line Propagating
5243034|IGL01161|12|52516860|V->M|0.95|Probably damaging|MGI:1332637|Arhgap5|Rho GTPase activating protein 5 [Source:MGI Symbol;Acc:MGI:1332637]|Heterozygous|Homozygotes die at birth, are 30% smaller, do not inflate their lungs, and show a small thymus, abnormal adipocyte differentiation and brain defects in the corpus callosum, anterior commissure and lateral ventricles. Mutant MEFs show impaired adipogenesis but undergo myogenesis in response to IGF-1.|G|A|41|37.0|Non-synonymous|Line Propagating
5243035|IGL01161|2|103705118|D->E|0.48|Possibly damaging|MGI:2139365|Abtb2|ankyrin repeat and BTB (POZ) domain containing 2 [Source:MGI Symbol;Acc:MGI:2139365]|Heterozygous||T|A|37|34.0|Non-synonymous|Line Propagating
5243036|IGL01161|3|115954110|V->A|0.51|Possibly damaging|MGI:1913750|Slc30a7|solute carrier family 30 (zinc transporter), member 7 [Source:MGI Symbol;Acc:MGI:1913750]|Heterozygous|Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed.|A|G|36|35.0|Non-synonymous|Line Propagating
5243037|IGL01161|1|87153193|D->G|0.63|Possibly damaging|MGI:1343461|Ecel1|endothelin converting enzyme-like 1 [Source:MGI Symbol;Acc:MGI:1343461]|Heterozygous|Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation.|T|C|35|34.0|Non-synonymous|Line Propagating
5243038|IGL01161|4|156009306|M->K||Benign|MGI:108079|Sdf4|stromal cell derived factor 4 [Source:MGI Symbol;Acc:MGI:108079]|Heterozygous||T|A|35|36.0|Non-synonymous|Line Propagating
5243039|IGL01161|13|117656922|Y->H||Unknown|MGI:1096392|Hcn1|hyperpolarization-activated, cyclic nucleotide-gated K+ 1 [Source:MGI Symbol;Acc:MGI:1096392]|Heterozygous|Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal.|T|C|32|35.0|Non-synonymous|Line Propagating
5243040|IGL01161|4|58146569|P->S|0.63|Possibly damaging|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||G|A|32|34.0|Non-synonymous|Line Propagating
5243041|IGL01161|17|5342399|R->Q|1.0|Probably damaging|MGI:1926129|Arid1b|AT rich interactive domain 1B (SWI-like) [Source:MGI Symbol;Acc:MGI:1926129]|Heterozygous||G|A|31|35.0|Non-synonymous|Line Propagating
5243042|IGL01161|4|106436844|H->N|0.01|Benign|MGI:1919936|Usp24|ubiquitin specific peptidase 24 [Source:MGI Symbol;Acc:MGI:1919936]|Heterozygous||C|A|30|36.0|Non-synonymous|Line Propagating
5243043|IGL01161|6|4619833|P->S|0.16|Benign|MGI:2384865|Casd1|CAS1 domain containing 1 [Source:MGI Symbol;Acc:MGI:2384865]|Heterozygous||C|T|28|36.5|Non-synonymous|Line Propagating
5243044|IGL01161|8|84994931|V->I|0.84|Possibly damaging|MGI:2181664|Hook2|hook homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2181664]|Heterozygous||G|A|26|33.0|Non-synonymous|Line Propagating
5243045|IGL01161|19|4319251|F->S||Benign|MGI:1354736|Kdm2a|lysine (K)-specific demethylase 2A [Source:MGI Symbol;Acc:MGI:1354736]|Heterozygous||A|G|22|35.0|Non-synonymous|Line Propagating
5243046|IGL01161|8|114369889|N->S|0.25|Benign|MGI:2142534|Vat1l|vesicle amine transport protein 1 homolog-like (T. californica) [Source:MGI Symbol;Acc:MGI:2142534]|Heterozygous||A|G|21|35.0|Non-synonymous|Line Propagating
5243047|IGL01161|15|27749781|N->I|0.99|Probably damaging|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|T|A|20|34.0|Non-synonymous|Line Propagating
5243048|IGL01161|8|68892625|K->Stop||N/A|MGI:96820|Lpl|lipoprotein lipase [Source:MGI Symbol;Acc:MGI:96820]|Heterozygous|Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels.|A|T|20|35.0|Non-synonymous|Line Propagating
5243049|IGL01161|11|59731573|V->E|1.0|Probably damaging|MGI:1349438|Mprip|myosin phosphatase Rho interacting protein [Source:MGI Symbol;Acc:MGI:1349438]|Heterozygous||T|A|19|35.0|Non-synonymous|Line Propagating
5243050|IGL01161|19|10605707|M->R|1.0|Probably damaging|MGI:1202384|Ddb1|damage specific DNA binding protein 1 [Source:MGI Symbol;Acc:MGI:1202384]|Heterozygous|Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation.|T|G|16|35.0|Non-synonymous|Line Propagating
5243051|IGL01161|7|17978510|I->F|0.93|Possibly damaging|MGI:1914246|Ceacam11|carcinoembryonic antigen-related cell adhesion molecule 11 [Source:MGI Symbol;Acc:MGI:1914246]|Heterozygous||A|T|14|37.5|Non-synonymous|Line Propagating
5243052|IGL01161|7|107425149|R->L|0.98|Probably damaging|MGI:1926373|Syt9|synaptotagmin IX [Source:MGI Symbol;Acc:MGI:1926373]|Heterozygous|Mice homozygous for a null allele exhibit 50% embryonic lethality while cre-mediated removal of a conditional allele impairs inhibitions of postsynaptic currents.|G|T|12|37.0|Non-synonymous|Line Propagating
5243053|IGL01161|X|136271469|F->S|0.96|Probably damaging|MGI:1338016|Ngfrap1|nerve growth factor receptor (TNFRSF16) associated protein 1 [Source:MGI Symbol;Acc:MGI:1338016]|Heterozygous||T|C|11|35.0|Non-synonymous|Line Propagating
5243054|IGL01161|9|57679893|E->K|0.97|Probably damaging|MGI:88589|Cyp1a2|cytochrome P450, family 1, subfamily a, polypeptide 2 [Source:MGI Symbol;Acc:MGI:88589]|Heterozygous|Mice homozygous for a null allele display resitance to some signs of TCDD induced toxicity but do not display any gross abnormalities in the abscence of treatment.|C|T|10|35.0|Non-synonymous|Line Propagating
5243055|IGL01161|11|73296718|Disrupted splicing|||MGI:2181407|Trpv3|transient receptor potential cation channel, subfamily V, member 3 [Source:MGI Symbol;Acc:MGI:2181407]|Heterozygous|Homozygous null mice have strong deficits in response to innocuous and noxious heat but not in other sensory modalities.|A|G|89|36.0|Splice|Line Propagating
5243056|IGL01161|X|48673248|Disrupted splicing|||MGI:2668412|Gpr119|G-protein coupled receptor 119 [Source:MGI Symbol;Acc:MGI:2668412]|Heterozygous||G|T|37|35.0|Splice|Line Propagating
5243057|IGL01161|11|103861885|Disrupted splicing|||MGI:104560|Nsf|N-ethylmaleimide sensitive fusion protein [Source:MGI Symbol;Acc:MGI:104560]|Heterozygous||C|T|29|37.0|Splice|Line Propagating
5243058|IGL01161|13|15548398|Disrupted splicing|||MGI:95729|Gli3|GLI-Kruppel family member GLI3 [Source:MGI Symbol;Acc:MGI:95729]|Heterozygous|Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.|A|G|25|39.0|Splice|Line Propagating
5243059|IGL01161|18|73770816|Disrupted splicing|||MGI:2147351|Me2|malic enzyme 2, NAD(+)-dependent, mitochondrial [Source:MGI Symbol;Acc:MGI:2147351]|Heterozygous||A|T|21|36.0|Splice|Line Propagating
5243060|IGL01161|6|67361865|Disrupted splicing|||MGI:1270861|Il12rb2|interleukin 12 receptor, beta 2 [Source:MGI Symbol;Acc:MGI:1270861]|Heterozygous|Mice homozygous for a knock-out allele have defects in IFN-gamma production and cytotoxic T lymphocyte and NK cytotoxicity, develop an autoimmune/lymphoproliferative disorder associated with higher susceptibility to spontaneous tumor formation, but show reduced in vivo growth of B16 melanoma tumors.|T|C|20|35.5|Splice|Line Propagating
5243061|IGL01161|17|33644753|Disrupted splicing|||MGI:3576625|Pram1|PML-RAR alpha-regulated adaptor molecule 1 [Source:MGI Symbol;Acc:MGI:3576625]|Heterozygous||A|T|15|36.0|Splice|Line Propagating
5975721|IGL01010|7|18478330|S->G|0.37|Benign|MGI:1891358|Psg26|pregnancy-specific glycoprotein 26 [Source:MGI Symbol;Acc:MGI:1891358]|Heterozygous||T|C|312|39.0|Non-synonymous|Cryopreserved
5975722|IGL01010|19|5731265|S->P|1.0|Probably damaging|MGI:1913482|Sssca1|Sjogren's syndrome/scleroderma autoantigen 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1913482]|Heterozygous||A|G|136|35.0|Non-synonymous|Cryopreserved
5975723|IGL01010|2|86314944|I->N|0.35|Benign|MGI:3030887|Olfr1053|olfactory receptor 1053 [Source:MGI Symbol;Acc:MGI:3030887]|Heterozygous||A|T|125|38.0|Non-synonymous|Cryopreserved
5975724|IGL01010|14|42187566|I->L|||MGI:3781750|Gm3573|predicted gene 3573 [Source:MGI Symbol;Acc:MGI:3781750]|Heterozygous||T|A|115|37.0|Non-synonymous|Cryopreserved
5975725|IGL01010|1|184819316|I->L||Benign|MGI:1914497|Mosc2|MOCO sulphurase C-terminal domain containing 2 [Source:MGI Symbol;Acc:MGI:1914497]|Heterozygous||T|G|97|37.0|Non-synonymous|Cryopreserved
5975726|IGL01010|9|78461643|K->R|||MGI:1915541|Mto1|mitochondrial translation optimization 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915541]|Heterozygous||A|G|82|39.5|Non-synonymous|Cryopreserved
5975727|IGL01010|10|88960600|T->I|0.14|Benign|MGI:2443344|Ano4|anoctamin 4 [Source:MGI Symbol;Acc:MGI:2443344]|Heterozygous||G|A|77|35.0|Non-synonymous|Cryopreserved
5975728|IGL01010|14|49037755|L->P|1.0|Probably damaging|MGI:2145645|Exoc5|exocyst complex component 5 [Source:MGI Symbol;Acc:MGI:2145645]|Heterozygous||A|G|77|40.0|Non-synonymous|Cryopreserved
5975729|IGL01010|3|103346715|Q->Stop||N/A|MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|C|T|77|39.0|Non-synonymous|Cryopreserved
5975730|IGL01010|13|100154938|V->D|0.99|Probably damaging|MGI:1298226|Naip2|NLR family, apoptosis inhibitory protein 2 [Source:MGI Symbol;Acc:MGI:1298226]|Heterozygous||A|T|75|37.0|Non-synonymous|Cryopreserved
5975731|IGL01010|11|86502766|M->V||Benign|MGI:1270849|Rps6kb1|ribosomal protein S6 kinase, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1270849]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced prenatal growth, glucose intolerance, and hypoinsulinemia associated with diminished pancreatic beta cell size.|T|C|70|37.0|Non-synonymous|Cryopreserved
5975732|IGL01010|15|12827289|T->M||Unknown|MGI:1261425|Drosha|drosha, ribonuclease type III [Source:MGI Symbol;Acc:MGI:1261425]|Heterozygous||C|T|61|37.0|Non-synonymous|Cryopreserved
5975733|IGL01010|9|116129980|L->Q|0.55|Possibly damaging|MGI:98729|Tgfbr2|transforming growth factor, beta receptor II [Source:MGI Symbol;Acc:MGI:98729]|Heterozygous|Homozygotes for targeted null mutations die in midgestation with impaired yolk sac hematopoiesis and vasculogenesis. Selective knockouts in bone marrow cells and cranial neural crest show inflammation and cleft palate/calvarial defects, respectively.|A|T|61|38.0|Non-synonymous|Cryopreserved
5975734|IGL01010|17|73827489|D->G|0.99|Probably damaging|MGI:1928900|Ehd3|EH-domain containing 3 [Source:MGI Symbol;Acc:MGI:1928900]|Heterozygous|Mice homozygous for a knock-out allele are healthy and fertile.|A|G|46|37.5|Non-synonymous|Cryopreserved
5975735|IGL01010|14|19417361|T->S|||MGI:5433902, MGI:3663091|Ac242409.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QP72]|Heterozygous||T|A|42|40.5|Non-synonymous|Cryopreserved
5975736|IGL01010|9|100945933|E->G|0.04|Benign|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||A|G|42|40.0|Non-synonymous|Cryopreserved
5975737|IGL01010|11|70465916|Y->H|1.0|Probably damaging|MGI:3603821|Zmynd15|zinc finger, MYND-type containing 15 [Source:MGI Symbol;Acc:MGI:3603821]|Heterozygous||T|C|38|35.0|Non-synonymous|Cryopreserved
5975738|IGL01010|12|11092426|M->V|0.04|Benign|MGI:1098804|Kcns3|potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 [Source:MGI Symbol;Acc:MGI:1098804]|Heterozygous||T|C|34|39.0|Non-synonymous|Cryopreserved
5975739|IGL01010|8|72445215|S->R|0.01|Benign|MGI:1919504|1700030k09rik|RIKEN cDNA 1700030K09 gene [Source:MGI Symbol;Acc:MGI:1919504]|Heterozygous||C|A|33|40.0|Non-synonymous|Cryopreserved
5975740|IGL01010|2|25520438|R->Stop||N/A|MGI:101835|Traf2|TNF receptor-associated factor 2 [Source:MGI Symbol;Acc:MGI:101835]|Heterozygous|Increased lethaltiy is observed with homozygous null mice. Offspring are runted and exhibit atrophic thymii and spleens with reduced numbers of lymphocytes.|G|A|32|36.5|Non-synonymous|Cryopreserved
5975741|IGL01010|3|73049273|G->D|0.96|Probably damaging|MGI:2679447|Slitrk3|SLIT and NTRK-like family, member 3 [Source:MGI Symbol;Acc:MGI:2679447]|Heterozygous||C|T|29|35.0|Non-synonymous|Cryopreserved
5975742|IGL01010|16|91643092|R->Stop||N/A|MGI:95654|Gart|phosphoribosylglycinamide formyltransferase [Source:MGI Symbol;Acc:MGI:95654]|Heterozygous||G|A|27|37.0|Non-synonymous|Cryopreserved
5975743|IGL01010|10|41071151|M->T||Benign|MGI:2155249|Gpr6|G protein-coupled receptor 6 [Source:MGI Symbol;Acc:MGI:2155249]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|A|G|25|35.0|Non-synonymous|Cryopreserved
5975744|IGL01010|10|107023849|Disrupted splicing|||MGI:2685720|Acss3|acyl-CoA synthetase short-chain family member 3 [Source:MGI Symbol;Acc:MGI:2685720]|Heterozygous||G|T|62|39.0|Splice|Cryopreserved
5975745|IGL01010|7|106874253|Disrupted splicing|||MGI:3030539|Olfr705|olfactory receptor 705 [Source:MGI Symbol;Acc:MGI:3030539]|Heterozygous||T|C|54|38.0|Splice|Cryopreserved
5975746|IGL01010|7|130902254|Disrupted splicing|||MGI:2442213|Plekha1|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Source:MGI Symbol;Acc:MGI:2442213]|Heterozygous|Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight.|T|C|16|39.0|Splice|Cryopreserved
5975747|IGL01010|11|3996914|Disrupted splicing|||MGI:1858277|Gal3st1|galactose-3-O-sulfotransferase 1 [Source:MGI Symbol;Acc:MGI:1858277]|Heterozygous|Homozygotes for a targeted null mutation exhibit hindlimb weakness and progressive ataxia beginning at six weeks of age. Homozygous males exhibit sterility with a block in spermatogenesis prior to the first meiotic division.|T|C|14|38.0|Splice|Cryopreserved
5975748|IGL01011|14|53047584|T->M|||MGI:3704436|Trav16d-dv11|T cell receptor alpha variable 16D-DV11 [Source:MGI Symbol;Acc:MGI:3704436]|Heterozygous||C|T|606|39.0|Non-synonymous|Cryopreserved
5975749|IGL01011|6|57002544|L->V|0.1|Benign|MGI:2159456|Vmn1r6|vomeronasal 1 receptor 6 [Source:MGI Symbol;Acc:MGI:2159456]|Heterozygous||T|G|421|39.0|Non-synonymous|Cryopreserved
5975750|IGL01011|11|73375007|Q->L||Benign|MGI:3030210|Olfr376|olfactory receptor 376 [Source:MGI Symbol;Acc:MGI:3030210]|Heterozygous||A|T|317|39.0|Non-synonymous|Cryopreserved
5975751|IGL01011|9|14464219|D->E|0.01|Benign|MGI:3606484|Kdm4d|lysine (K)-specific demethylase 4D [Source:MGI Symbol;Acc:MGI:3606484]|Heterozygous||A|T|292|38.0|Non-synonymous|Cryopreserved
5975752|IGL01011|7|140704437|Y->F|||MGI:3030375|Olfr541|olfactory receptor 541 [Source:MGI Symbol;Acc:MGI:3030375]|Heterozygous||A|T|239|37.0|Non-synonymous|Cryopreserved
5975754|IGL01011|14|52231532|G->V|0.87|Possibly damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|C|A|146|38.0|Non-synonymous|Cryopreserved
5975755|IGL01011|1|74434887|S->P|1.0|Probably damaging|MGI:98930|Vil1|villin 1 [Source:MGI Symbol;Acc:MGI:98930]|Heterozygous|Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed.|T|C|145|36.0|Non-synonymous|Cryopreserved
5975756|IGL01011|17|71849939|I->V|0.03|Benign|MGI:1919100|Clip4|CAP-GLY domain containing linker protein family, member 4 [Source:MGI Symbol;Acc:MGI:1919100]|Heterozygous||A|G|144|39.0|Non-synonymous|Cryopreserved
5975757|IGL01011|6|36524438|N->S|0.29|Benign|MGI:88397|Chrm2|cholinergic receptor, muscarinic 2, cardiac [Source:MGI Symbol;Acc:MGI:88397]|Heterozygous|Homozygous mutants have slightly decreased body weight (5%) compared to wild-type animals and are resistant to the tremorogenic, analgesic, and hypothermic responses to oxotremorine.|A|G|137|36.0|Non-synonymous|Cryopreserved
5975758|IGL01011|2|76814290|V->A|0.9|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|134|36.0|Non-synonymous|Cryopreserved
5975759|IGL01011|9|62912855|T->A||Benign|MGI:1913125|Pias1|protein inhibitor of activated STAT 1 [Source:MGI Symbol;Acc:MGI:1913125]|Heterozygous|Homozygous null mice display partial perinatal lethality, reduced body size, decreased susceptibility to viral infection, and increased susceptibility to bacterial infection and LPS-induced endotoxin shock.|T|C|126|35.5|Non-synonymous|Cryopreserved
5975760|IGL01011|1|53299118|V->A||Benign|MGI:2181669|Ormdl1|ORM1-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2181669]|Heterozygous||T|C|115|39.0|Non-synonymous|Cryopreserved
5975761|IGL01011|7|45458646|D->E|0.61|Possibly damaging|MGI:95589|Ftl1|ferritin light chain 1 [Source:MGI Symbol;Acc:MGI:95589]|Heterozygous||A|T|108|39.0|Non-synonymous|Cryopreserved
5975762|IGL01011|16|59074430|T->S|||MGI:3030024|Olfr190|olfactory receptor 190 [Source:MGI Symbol;Acc:MGI:3030024]|Heterozygous||T|A|106|39.0|Non-synonymous|Cryopreserved
5975763|IGL01011|3|90009256|Q->Stop||N/A|MGI:1921633|Ubap2l|ubiquitin associated protein 2-like [Source:MGI Symbol;Acc:MGI:1921633]|Heterozygous||G|A|103|35.0|Non-synonymous|Cryopreserved
5975764|IGL01011|1|171938099|H->Q||Benign|MGI:1353620|Slamf6|SLAM family member 6 [Source:MGI Symbol;Acc:MGI:1353620]|Heterozygous|Mice homozygous for one null allele show no overt phenotype. Mice homozygous for another null allele show impaired IL-4 production by CD4+ T cells, reduced inflammatory response to L. mexicana infection, high susceptibility to S. typhimurium infection, and defective neutrophil bactericidal activity.|T|A|94|40.0|Non-synonymous|Cryopreserved
5975765|IGL01011|9|57258246|C->S|0.83|Possibly damaging|MGI:1921461|1700017b05rik|RIKEN cDNA 1700017B05 gene [Source:MGI Symbol;Acc:MGI:1921461]|Heterozygous||A|T|85|37.0|Non-synonymous|Cryopreserved
5975766|IGL01011|11|115124333|S->P|0.85|Possibly damaging|MGI:2442359|Cd300lf|CD300 antigen like family member F [Source:MGI Symbol;Acc:MGI:2442359]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination.|A|G|83|37.0|Non-synonymous|Cryopreserved
5975767|IGL01011|9|45683672|D->G|1.0|Probably damaging|MGI:2150309|Dscaml1|Down syndrome cell adhesion molecule like 1 [Source:MGI Symbol;Acc:MGI:2150309]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina.|A|G|83|35.0|Non-synonymous|Cryopreserved
5975768|IGL01011|17|80183280|T->A|0.09|Benign|MGI:2442420|Galm|galactose mutarotase [Source:MGI Symbol;Acc:MGI:2442420]|Heterozygous||A|G|81|37.0|Non-synonymous|Cryopreserved
5975769|IGL01011|7|84285829|D->V|0.04|Benign|MGI:107188|Arnt2|aryl hydrocarbon receptor nuclear translocator 2 [Source:MGI Symbol;Acc:MGI:107188]|Heterozygous|Mice homozygous for targeted mutations that inactivate this gene die shortly after birth, displaying impaired development of secretory neurones in the hypothalamus.|T|A|74|35.0|Non-synonymous|Cryopreserved
5975770|IGL01011|10|14409798|I->S|0.92|Possibly damaging|MGI:1916151|Gpr126|G protein-coupled receptor 126 [Source:MGI Symbol;Acc:MGI:1916151]|Heterozygous|Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure.|A|C|71|40.0|Non-synonymous|Cryopreserved
5975771|IGL01011|11|121513096|S->T||Benign|MGI:2442210, MGI:1919686|Tbcd,zfp750|zinc finger protein 750 [Source:MGI Symbol;Acc:MGI:2442210],tubulin-specific chaperone d [Source:MGI Symbol;Acc:MGI:1919686]|Heterozygous||A|T|68|36.0|Non-synonymous|Cryopreserved
5975772|IGL01011|14|26603054|V->F|1.0|Probably damaging|MGI:2442980|Fam116a|family with sequence similarity 116, member A [Source:MGI Symbol;Acc:MGI:2442980]|Heterozygous||G|T|67|39.0|Non-synonymous|Cryopreserved
5975773|IGL01011|14|53560035|T->I|||MGI:1345654, MGI:3042921, MGI:4439369, MGI:2150405, MGI:3656498, MGI:3525635|Ac161872.2||Heterozygous||C|T|64|37.5|Non-synonymous|Cryopreserved
5975774|IGL01011|9|44505179|D->G|0.36|Benign|MGI:1933114|Bcl9l|B cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]|Heterozygous|Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.|A|G|63|35.0|Non-synonymous|Cryopreserved
5975775|IGL01011|1|82682301|V->A||Unknown|MGI:104688|Col4a3|collagen, type IV, alpha 3 [Source:MGI Symbol;Acc:MGI:104688]|Heterozygous|Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds are mildly increased across all test frequencies.|T|C|60|36.0|Non-synonymous|Cryopreserved
5975776|IGL01011|17|3415028|D->V|0.03|Benign|MGI:1344338|Tiam2|T cell lymphoma invasion and metastasis 2 [Source:MGI Symbol;Acc:MGI:1344338]|Heterozygous||A|T|55|36.0|Non-synonymous|Cryopreserved
5975777|IGL01011|6|87845700|R->H|0.99|Probably damaging|MGI:88431|Cnbp|cellular nucleic acid binding protein [Source:MGI Symbol;Acc:MGI:88431]|Heterozygous||C|T|52|35.0|Non-synonymous|Cryopreserved
5975778|IGL01011|1|71263632|I->V||Benign|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|T|C|51|38.0|Non-synonymous|Cryopreserved
5975779|IGL01011|13|56804540|G->D|1.0|Probably damaging|MGI:1349470|Trpc7|transient receptor potential cation channel, subfamily C, member 7 [Source:MGI Symbol;Acc:MGI:1349470]|Heterozygous||C|T|50|38.5|Non-synonymous|Cryopreserved
5975780|IGL01011|6|77244235|N->S|1.0|Probably damaging|MGI:88275, MGI:2389173|Ctnna2,lrrtm1|leucine rich repeat transmembrane neuronal 1 [Source:MGI Symbol;Acc:MGI:2389173],catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with grossly normal brain morphology. Mice homozygous for another knock-out allele exhibit impaired cognitive function and altered hippocampal synapse morphology.,Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|A|G|50|36.0|Non-synonymous|Cryopreserved
5975781|IGL01011|12|35098280|D->E|||MGI:2661416|Snx13|sorting nexin 13 [Source:MGI Symbol;Acc:MGI:2661416]|Heterozygous|Homozygous null mice are growth retarded and die at midgestation with defects in neural tube closure, vasculogenesis and placental development. Mutant visceral yolk sac endoderm cells exhibit altered endocytic compartments, abundant autophagic vacuoles and mislocalization of endocytic markers.|T|A|48|38.5|Non-synonymous|Cryopreserved
5975782|IGL01011|6|15438019|Stop->R||N/A|MGI:2148705|Foxp2|forkhead box P2 [Source:MGI Symbol;Acc:MGI:2148705]|Heterozygous|Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity.|T|A|44|38.5|Non-synonymous|Cryopreserved
5975783|IGL01011|2|112629785|D->N|0.33|Benign|MGI:1921518|Aven|apoptosis, caspase activation inhibitor [Source:MGI Symbol;Acc:MGI:1921518]|Heterozygous||G|A|43|39.0|Non-synonymous|Cryopreserved
5975784|IGL01011|8|109562691|I->V||Benign|MGI:1927617|Dhx38|DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Source:MGI Symbol;Acc:MGI:1927617]|Heterozygous||T|C|43|37.0|Non-synonymous|Cryopreserved
5975785|IGL01011|1|58240775|R->Stop||N/A|MGI:1919122|Aox4|aldehyde oxidase 4 [Source:MGI Symbol;Acc:MGI:1919122]|Heterozygous|Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment.|C|T|40|35.0|Non-synonymous|Cryopreserved
5975786|IGL01011|10|127239196|V->E|0.02|Benign|MGI:109564|Kif5a|kinesin family member 5A [Source:MGI Symbol;Acc:MGI:109564]|Heterozygous|Homozygotes for a targeted null mutation die at birth. Most mutants for a postnatal conditional knockout allele exhibit fatal seizures around 3 weeks of age, but about 1/4 survive to 3 months or older.|A|T|39|35.0|Non-synonymous|Cryopreserved
5975787|IGL01011|15|27736489|D->G|0.31|Benign|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|T|C|39|38.0|Non-synonymous|Cryopreserved
5975788|IGL01011|4|137559335|T->I|1.0|Probably damaging|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|C|T|36|35.0|Non-synonymous|Cryopreserved
5975789|IGL01011|13|23696049|L->F|||MGI:1888530|Hist1h1t|histone cluster 1, H1t [Source:MGI Symbol;Acc:MGI:1888530]|Heterozygous|Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility.|C|T|35|39.0|Non-synonymous|Cryopreserved
5975790|IGL01011|13|76122665|C->Y|||MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||G|A|35|37.0|Non-synonymous|Cryopreserved
5975791|IGL01011|2|174345738|D->G||Unknown|MGI:95777, MGI:5313030|Gm20721,gnas|GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Source:MGI Symbol;Acc:MGI:95777],predicted gene, 20721 [Source:MGI Symbol;Acc:MGI:5313030]|Heterozygous|NO_PHENOTYPE,Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.|A|G|35|36.0|Non-synonymous|Cryopreserved
5975792|IGL01011|7|122078472|E->G|1.0|Probably damaging|MGI:107301|Ubfd1|ubiquitin family domain containing 1 [Source:MGI Symbol;Acc:MGI:107301]|Heterozygous||A|G|30|40.0|Non-synonymous|Cryopreserved
5975793|IGL01011|3|152276690|T->K|0.03|Benign|MGI:1924567|Fam73a|family with sequence similarity 73, member A [Source:MGI Symbol;Acc:MGI:1924567]|Heterozygous||G|T|29|35.0|Non-synonymous|Cryopreserved
5975794|IGL01011|15|97793935|E->D|0.01|Benign|MGI:1891835|Hdac7|histone deacetylase 7 [Source:MGI Symbol;Acc:MGI:1891835]|Heterozygous|Deletion of this gene result in embryonic lethality by E11, due to vascular defects which are due to endothelial cell adhesion defects.|T|A|23|36.0|Non-synonymous|Cryopreserved
5975795|IGL01011|4|134529200|T->I|0.01|Benign|MGI:1924074|Fam54b|family with sequence similarity 54, member B [Source:MGI Symbol;Acc:MGI:1924074]|Heterozygous||G|A|22|40.0|Non-synonymous|Cryopreserved
5975796|IGL01011|12|4965984|N->S|0.01|Benign|MGI:2444798|Atad2b|ATPase family, AAA domain containing 2B [Source:MGI Symbol;Acc:MGI:2444798]|Heterozygous||A|G|18|37.5|Non-synonymous|Cryopreserved
5975797|IGL01011|8|108793594|H->Q||Benign|MGI:99948|Zfhx3|zinc finger homeobox 3 [Source:MGI Symbol;Acc:MGI:99948]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal pituitary development.|T|A|18|39.0|Non-synonymous|Cryopreserved
5975798|IGL01011|2|120979219|K->N|0.16|Benign|MGI:2139461|Tmem62|transmembrane protein 62 [Source:MGI Symbol;Acc:MGI:2139461]|Heterozygous||G|T|13|39.0|Non-synonymous|Cryopreserved
5975799|IGL01011|13|38220764|D->G|0.56|Possibly damaging|MGI:1915047|Snrnp48|small nuclear ribonucleoprotein 48 (U11/U12) [Source:MGI Symbol;Acc:MGI:1915047]|Heterozygous||A|G|12|33.0|Non-synonymous|Cryopreserved
5975800|IGL01011|11|60476992|I->V|0.54|Possibly damaging|MGI:1261811|Myo15|myosin XV [Source:MGI Symbol;Acc:MGI:1261811]|Heterozygous|Mutations in this gene result in profound deafness and neurological behavior.|A|G|11|35.0|Non-synonymous|Cryopreserved
5975801|IGL01011|15|101628134|S->G||Benign|MGI:3646939|Gm5414|predicted gene 5414 [Source:MGI Symbol;Acc:MGI:3646939]|Heterozygous||T|C|11|37.0|Non-synonymous|Cryopreserved
5975802|IGL01011|9|70316589|Disrupted splicing|||MGI:106621|Myo1e|myosin IE [Source:MGI Symbol;Acc:MGI:106621]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects.|T|C|75|38.0|Splice|Cryopreserved
5975803|IGL01011|18|58095240|Disrupted splicing|||MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|G|A|73|37.0|Splice|Cryopreserved
5975804|IGL01011|3|79612061|Disrupted splicing|||MGI:106100|Etfdh|electron transferring flavoprotein, dehydrogenase [Source:MGI Symbol;Acc:MGI:106100]|Heterozygous||A|T|56|38.0|Splice|Cryopreserved
5975805|IGL01011|5|90760523|Disrupted splicing|||MGI:1096868|Cxcl5|chemokine (C-X-C motif) ligand 5 [Source:MGI Symbol;Acc:MGI:1096868]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased chemokine scavenging, decrease suscetibility to bacterial infection, and altered neutrophil physiology.|T|C|38|35.0|Splice|Cryopreserved
5975806|IGL01011|4|41195328|Disrupted splicing|||MGI:1916176|Ubap2|ubiquitin-associated protein 2 [Source:MGI Symbol;Acc:MGI:1916176]|Heterozygous||G|A|30|35.0|Splice|Cryopreserved
5975807|IGL01012|9|39623365|M->L|0.01|Benign|MGI:3030794|Olfr960|olfactory receptor 960 [Source:MGI Symbol;Acc:MGI:3030794]|Heterozygous||A|T|324|37.0|Non-synonymous|Cryopreserved
5975808|IGL01012|6|146345161|R->W|1.0|Probably damaging|MGI:99418|Itpr2|inositol 1,4,5-triphosphate receptor 2 [Source:MGI Symbol;Acc:MGI:99418]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile with no apparent abnormalities in pancreatic and salivary secretion. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.|G|A|246|39.0|Non-synonymous|Cryopreserved
5975809|IGL01012|16|25987248|C->G|1.0|Probably damaging|MGI:2146663|Leprel1|leprecan-like 1 [Source:MGI Symbol;Acc:MGI:2146663]|Heterozygous||A|C|244|35.0|Non-synonymous|Cryopreserved
5975810|IGL01012|18|67812406|N->K|0.22|Benign|MGI:1918049|Cep192|centrosomal protein 192 [Source:MGI Symbol;Acc:MGI:1918049]|Heterozygous||T|A|218|39.0|Non-synonymous|Cryopreserved
5975811|IGL01012|6|48537815|I->T|0.01|Benign|MGI:1923502|Atp6v0e2|ATPase, H+ transporting, lysosomal V0 subunit E2 [Source:MGI Symbol;Acc:MGI:1923502]|Heterozygous||T|C|217|35.0|Non-synonymous|Cryopreserved
5975812|IGL01012|8|129178357|T->A||Unknown|MGI:1922703|1700008f21rik|RIKEN cDNA 1700008F21 gene [Source:MGI Symbol;Acc:MGI:1922703]|Heterozygous||A|G|183|39.0|Non-synonymous|Cryopreserved
5975813|IGL01012|2|57364530|N->S||Benign|MGI:99778|Gpd2|glycerol phosphate dehydrogenase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:99778]|Heterozygous|Homozygotes for targeted null mutations exhibit diminished hepatic ATP levels, decreased adiposity and fasting blood glucose, and, on an inbred background, reductions in preweaning viability and fertility.|A|G|165|38.0|Non-synonymous|Cryopreserved
5975814|IGL01012|6|123729596|T->A||Benign|MGI:3646826|Vmn2r23|vomeronasal 2, receptor 23 [Source:MGI Symbol;Acc:MGI:3646826]|Heterozygous||A|G|145|38.0|Non-synonymous|Cryopreserved
5975815|IGL01012|7|123286568|H->Q||Unknown|MGI:1917747|Arhgap17|Rho GTPase activating protein 17 [Source:MGI Symbol;Acc:MGI:1917747]|Heterozygous||A|T|145|35.0|Non-synonymous|Cryopreserved
5975816|IGL01012|9|110362420|P->H|1.0|Probably damaging|MGI:2135958|Scap|SREBF chaperone [Source:MGI Symbol;Acc:MGI:2135958]|Heterozygous||C|A|143|37.0|Non-synonymous|Cryopreserved
5975817|IGL01012|2|52196361|N->K||Benign|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|T|127|39.0|Non-synonymous|Cryopreserved
5975818|IGL01012|11|115012297|I->F||Unknown|MGI:3649405|Gm11709|predicted gene 11709 [Source:MGI Symbol;Acc:MGI:3649405]|Heterozygous||T|A|121|38.0|Non-synonymous|Cryopreserved
5975819|IGL01012|9|100855859|A->E|0.95|Possibly damaging|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||C|A|107|37.0|Non-synonymous|Cryopreserved
5975820|IGL01012|18|77017554|V->F|0.83|Possibly damaging|MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||C|A|102|38.0|Non-synonymous|Cryopreserved
5975821|IGL01012|6|61638490|T->A||Benign|MGI:3045354|Fam190a|family with sequence similarity 190, member A [Source:MGI Symbol;Acc:MGI:3045354]|Heterozygous||A|G|88|39.0|Non-synonymous|Cryopreserved
5975822|IGL01012|17|14926247|H->L|1.0|Probably damaging|MGI:1918932|Wdr27|WD repeat domain 27 [Source:MGI Symbol;Acc:MGI:1918932]|Heterozygous||T|A|87|38.0|Non-synonymous|Cryopreserved
5975823|IGL01012|6|115899491|Y->N|0.95|Possibly damaging|MGI:1932386|Ift122|intraflagellar transport 122 [Source:MGI Symbol;Acc:MGI:1932386]|Heterozygous|Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects.|T|A|82|37.0|Non-synonymous|Cryopreserved
5975824|IGL01012|15|102227585|S->L|0.04|Benign|MGI:96616|Itgb7|integrin beta 7 [Source:MGI Symbol;Acc:MGI:96616]|Heterozygous|Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration|G|A|75|38.0|Non-synonymous|Cryopreserved
5975825|IGL01012|17|74307754|L->I|1.0|Probably damaging|MGI:1913560|Dpy30|dpy-30 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1913560]|Heterozygous||A|T|70|37.0|Non-synonymous|Cryopreserved
5975826|IGL01012|1|58997348|V->E|0.02|Benign|MGI:1920713|Als2cr11|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (human) [Source:MGI Symbol;Acc:MGI:1920713]|Heterozygous||A|T|67|39.0|Non-synonymous|Cryopreserved
5975827|IGL01012|7|105641138|Y->Stop||N/A|MGI:1315196|Fxc1|fractured callus expressed transcript 1 [Source:MGI Symbol;Acc:MGI:1315196]|Heterozygous||C|A|62|35.0|Non-synonymous|Cryopreserved
5975828|IGL01012|5|31136958|S->A|0.02|Benign|MGI:1889623|Trim54|tripartite motif-containing 54 [Source:MGI Symbol;Acc:MGI:1889623]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction.|T|G|61|36.0|Non-synonymous|Cryopreserved
5975829|IGL01012|18|61839701|M->K|0.98|Probably damaging|MGI:2442582|Ablim3|actin binding LIM protein family, member 3 [Source:MGI Symbol;Acc:MGI:2442582]|Heterozygous||A|T|60|35.0|Non-synonymous|Cryopreserved
5975830|IGL01012|18|73675809|N->I|1.0|Probably damaging|MGI:894293|Smad4|SMAD family member 4 [Source:MGI Symbol;Acc:MGI:894293]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum.|T|A|60|38.5|Non-synonymous|Cryopreserved
5975831|IGL01012|4|152118428|V->A||Benign|MGI:1934667|Tnfrsf25|tumor necrosis factor receptor superfamily, member 25 [Source:MGI Symbol;Acc:MGI:1934667]|Heterozygous|Homozygous mutant mice show no developmental defects or impairments of early thymocyte development. Negative selection and anti-CD3-induced apoptosis, however, are significantly impaired.|T|C|60|37.0|Non-synonymous|Cryopreserved
5975832|IGL01012|5|118734028|D->N|||MGI:2670178|Med13l|mediator complex subunit 13-like [Source:MGI Symbol;Acc:MGI:2670178]|Heterozygous||G|A|59|35.0|Non-synonymous|Cryopreserved
5975833|IGL01012|15|101461019|D->G|0.11|Benign|MGI:1928858|Krt81|keratin 81 [Source:MGI Symbol;Acc:MGI:1928858]|Heterozygous||T|C|55|34.0|Non-synonymous|Cryopreserved
5975834|IGL01012|9|54950679|C->Y||Unknown|MGI:3575512|Ay074887|cDNA sequence AY074887 [Source:MGI Symbol;Acc:MGI:3575512]|Heterozygous||C|T|54|35.5|Non-synonymous|Cryopreserved
5975835|IGL01012|19|11791788|K->E|0.64|Possibly damaging|MGI:103077|Stx3|syntaxin 3 [Source:MGI Symbol;Acc:MGI:103077]|Heterozygous||T|C|52|36.0|Non-synonymous|Cryopreserved
5975836|IGL01012|8|13033409|E->V|0.98|Probably damaging|MGI:109325|F7|coagulation factor VII [Source:MGI Symbol;Acc:MGI:109325]|Heterozygous|Mice homozygous for a targeted null mutation developed normally through embryogenesis, and exhibited no vascular defects; however, 70% of homozygous neonates suffered fatal intra-abdominal haemorrhaging and died within 24 hours after birth.|A|T|49|35.0|Non-synonymous|Cryopreserved
5975837|IGL01012|13|34990329|L->Stop||N/A|MGI:1346064|Eci2|enoyl-Coenzyme A delta isomerase 2 [Source:MGI Symbol;Acc:MGI:1346064]|Heterozygous||A|T|48|39.5|Non-synonymous|Cryopreserved
5975838|IGL01012|9|58157228|E->G|1.0|Probably damaging|MGI:1349645|Islr|immunoglobulin superfamily containing leucine-rich repeat [Source:MGI Symbol;Acc:MGI:1349645]|Heterozygous||T|C|47|38.0|Non-synonymous|Cryopreserved
5975839|IGL01012|18|64504968|A->E|1.0|Probably damaging|MGI:1917473|Nars|asparaginyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1917473]|Heterozygous||G|T|41|37.0|Non-synonymous|Cryopreserved
5975840|IGL01012|6|48677917|V->A|||MGI:3511744|Gimap9|GTPase, IMAP family member 9 [Source:MGI Symbol;Acc:MGI:3511744]|Heterozygous||T|C|40|38.0|Non-synonymous|Cryopreserved
5975841|IGL01012|8|15917341|K->R||Benign|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||T|C|40|35.5|Non-synonymous|Cryopreserved
5975842|IGL01012|19|36442868|C->S|0.55|Possibly damaging|MGI:1923505|Pcgf5|polycomb group ring finger 5 [Source:MGI Symbol;Acc:MGI:1923505]|Heterozygous||T|A|39|40.0|Non-synonymous|Cryopreserved
5975843|IGL01012|8|94587362|R->W|1.0|Probably damaging|MGI:1919637|Fam192a|family with sequence similarity 192, member A [Source:MGI Symbol;Acc:MGI:1919637]|Heterozygous||G|A|38|37.5|Non-synonymous|Cryopreserved
5975844|IGL01012|5|129746439|I->T|0.53|Possibly damaging|MGI:1278343|Gbas|glioblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1278343]|Heterozygous||T|C|35|35.0|Non-synonymous|Cryopreserved
5975845|IGL01012|2|146421739|Q->L|0.72|Possibly damaging|MGI:3036245|Ralgapa2|Ral GTPase activating protein, alpha subunit 2 (catalytic) [Source:MGI Symbol;Acc:MGI:3036245]|Heterozygous||T|A|33|39.0|Non-synonymous|Cryopreserved
5975846|IGL01012|11|116283170|T->S|1.0|Probably damaging|MGI:1337018|Galr2|galanin receptor 2 [Source:MGI Symbol;Acc:MGI:1337018]|Heterozygous|Mice homozygous for disruptions in this gene display a reduction in exploratory activity. There is also a modest shift in the distribution of different lymphocyte cell types.|A|T|32|36.0|Non-synonymous|Cryopreserved
5975847|IGL01012|17|25070355|D->G|1.0|Probably damaging|MGI:3039635, MGI:2146906|Tmem204,ift140|transmembrane protein 204 [Source:MGI Symbol;Acc:MGI:3039635],intraflagellar transport 140 [Source:MGI Symbol;Acc:MGI:2146906]|Heterozygous||T|C|31|35.0|Non-synonymous|Cryopreserved
5975848|IGL01012|11|65184625|G->R|0.98|Probably damaging|MGI:2137495|Myocd|myocardin [Source:MGI Symbol;Acc:MGI:2137495]|Heterozygous|Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle.|C|T|30|39.0|Non-synonymous|Cryopreserved
5975849|IGL01012|17|13013577|A->V|0.15|Benign|MGI:98352|Sod2|superoxide dismutase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:98352]|Heterozygous|Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age.|C|T|30|39.0|Non-synonymous|Cryopreserved
5975850|IGL01012|14|48252730|R->Stop||N/A|MGI:1891445|Peli2|pellino 2 [Source:MGI Symbol;Acc:MGI:1891445]|Heterozygous||C|T|29|35.0|Non-synonymous|Cryopreserved
5975851|IGL01012|3|103833414|D->E|1.0|Probably damaging|MGI:2685412|Bcl2l15|BCLl2-like 15 [Source:MGI Symbol;Acc:MGI:2685412]|Heterozygous||T|A|29|36.0|Non-synonymous|Cryopreserved
5975852|IGL01012|5|70778169|K->R||Benign|MGI:103156|Gabrg1|gamma-aminobutyric acid (GABA) A receptor, subunit gamma 1 [Source:MGI Symbol;Acc:MGI:103156]|Heterozygous||T|C|29|40.0|Non-synonymous|Cryopreserved
5975853|IGL01012|10|49272956|D->A|1.0|Probably damaging|MGI:95815|Grik2|glutamate receptor, ionotropic, kainate 2 (beta 2) [Source:MGI Symbol;Acc:MGI:95815]|Heterozygous|Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration.|T|G|28|37.5|Non-synonymous|Cryopreserved
5975854|IGL01012|10|21146260|V->I|0.71|Possibly damaging|MGI:97249|Myb|myeloblastosis oncogene [Source:MGI Symbol;Acc:MGI:97249]|Heterozygous|Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected.|C|T|27|38.0|Non-synonymous|Cryopreserved
5975855|IGL01012|12|103112455|D->E|0.99|Probably damaging|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|A|25|37.0|Non-synonymous|Cryopreserved
5975856|IGL01012|16|45143832|V->A|1.0|Probably damaging|MGI:1921352|Slc35a5|solute carrier family 35, member A5 [Source:MGI Symbol;Acc:MGI:1921352]|Heterozygous||A|G|24|38.5|Non-synonymous|Cryopreserved
5975857|IGL01012|4|86342189|F->S|0.6|Possibly damaging|MGI:1924989|Adamtsl1|ADAMTS-like 1 [Source:MGI Symbol;Acc:MGI:1924989]|Heterozygous||T|C|22|39.0|Non-synonymous|Cryopreserved
5975858|IGL01012|13|83655595|M->K|0.8|Possibly damaging|MGI:99458|Mef2c|myocyte enhancer factor 2C [Source:MGI Symbol;Acc:MGI:99458]|Heterozygous|Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos.|T|A|18|39.0|Non-synonymous|Cryopreserved
5975859|IGL01012|1|53761037|S->T||Benign|MGI:2138162|Stk17b|serine/threonine kinase 17b (apoptosis-inducing) [Source:MGI Symbol;Acc:MGI:2138162]|Heterozygous|Homozygous null mice display abnormal T cell numbers, increased T cell proliferation, abnormal cytokine physiology, and decreased susceptibility to experimental autoimmune encephalomyelitis.|A|T|17|39.0|Non-synonymous|Cryopreserved
5975860|IGL01012|18|42054192|D->E|0.34|Benign|MGI:2444628|Sh3rf2|SH3 domain containing ring finger 2 [Source:MGI Symbol;Acc:MGI:2444628]|Heterozygous||T|A|16|38.0|Non-synonymous|Cryopreserved
5975861|IGL01012|8|14979977|S->P||Benign|MGI:2444453|Arhgef10|Rho guanine nucleotide exchange factor (GEF) 10 [Source:MGI Symbol;Acc:MGI:2444453]|Heterozygous||T|C|14|38.0|Non-synonymous|Cryopreserved
5975862|IGL01012|11|96025459|F->L|0.04|Benign|MGI:107504|Gip|gastric inhibitory polypeptide [Source:MGI Symbol;Acc:MGI:107504]|Heterozygous||C|A|12|37.0|Non-synonymous|Cryopreserved
5975863|IGL01012|8|70913910|N->K||Benign|MGI:2443304|Mtap1s|microtubule-associated protein 1S [Source:MGI Symbol;Acc:MGI:2443304]|Heterozygous|Mice homozygous for a knock-out allele exhibit defective biogenesis and degradation of autophagosomes.|C|A|12|38.5|Non-synonymous|Cryopreserved
5975864|IGL01012|19|56930261|E->G|0.86|Possibly damaging|MGI:2147658|Afap1l2|actin filament associated protein 1-like 2 [Source:MGI Symbol;Acc:MGI:2147658]|Heterozygous||T|C|10|38.0|Non-synonymous|Cryopreserved
5975865|IGL01012|9|120116494|Disrupted splicing|||MGI:2384782|Slc25a38|solute carrier family 25, member 38 [Source:MGI Symbol;Acc:MGI:2384782]|Heterozygous||T|C|241|35.0|Splice|Cryopreserved
5975866|IGL01012|6|148789063|Disrupted splicing|||MGI:2444611|Ipo8|importin 8 [Source:MGI Symbol;Acc:MGI:2444611]|Heterozygous||A|G|95|38.0|Splice|Cryopreserved
5975867|IGL01012|19|13781573|Disrupted splicing|||MGI:3031330|Olfr1496|olfactory receptor 1496 [Source:MGI Symbol;Acc:MGI:3031330]|Heterozygous||T|C|48|40.0|Splice|Cryopreserved
5975868|IGL01012|7|29161523|Disrupted splicing|||MGI:2142186|Spred3|sprouty-related, EVH1 domain containing 3 [Source:MGI Symbol;Acc:MGI:2142186]|Heterozygous||T|A|31|35.0|Splice|Cryopreserved
5975869|IGL01012|10|58540915|Disrupted splicing|||MGI:1923388|Ccdc138|coiled-coil domain containing 138 [Source:MGI Symbol;Acc:MGI:1923388]|Heterozygous||G|A|28|38.0|Splice|Cryopreserved
5975870|IGL01012|4|143950214|Disrupted splicing|||MGI:3649968|Gm13109|predicted gene 13109 [Source:MGI Symbol;Acc:MGI:3649968]|Heterozygous||T|A|28|40.0|Splice|Cryopreserved
5975871|IGL01012|11|99780005|Disrupted splicing|||MGI:3652306|Krtap4-8|keratin associated protein 4-8 [Source:MGI Symbol;Acc:MGI:3652306]|Heterozygous||T|A|24|34.0|Splice|Cryopreserved
5975872|IGL01012|14|55544069|Disrupted splicing|||MGI:1860456|Pck2|phosphoenolpyruvate carboxykinase 2 (mitochondrial) [Source:MGI Symbol;Acc:MGI:1860456]|Heterozygous||T|C|23|35.0|Splice|Cryopreserved
5975873|IGL01012|9|71130549|Disrupted splicing|||MGI:1891066|Aqp9|aquaporin 9 [Source:MGI Symbol;Acc:MGI:1891066]|Heterozygous|Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection.|A|G|15|40.0|Splice|Cryopreserved
5975874|IGL01013|16|20282790|A->S|0.93|Possibly damaging|MGI:1277152|Parl|presenilin associated, rhomboid-like [Source:MGI Symbol;Acc:MGI:1277152]|Heterozygous|Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy.|C|A|167|39.0|Non-synonymous|Cryopreserved
5975875|IGL01013|2|127232472|E->K|0.9|Possibly damaging|MGI:2444401|Snrnp200|small nuclear ribonucleoprotein 200 (U5) [Source:MGI Symbol;Acc:MGI:2444401]|Heterozygous||G|A|93|37.0|Non-synonymous|Cryopreserved
5975876|IGL01013|10|4030716|Q->K|1.0|Probably damaging|MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||C|A|78|38.5|Non-synonymous|Cryopreserved
5975877|IGL01013|10|41267786|M->V||Benign|MGI:2143585|Fig4|FIG4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143585]|Heterozygous|Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.|T|C|65|40.0|Non-synonymous|Cryopreserved
5975878|IGL01013|9|21399691|N->D|0.9|Possibly damaging|MGI:1339973|Ilf3|interleukin enhancer binding factor 3 [Source:MGI Symbol;Acc:MGI:1339973]|Heterozygous|Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers, myocyte degeneration and elevated apoptosis.|A|G|63|37.0|Non-synonymous|Cryopreserved
5975879|IGL01013|2|121535497|S->P||Benign|MGI:1926186|Wdr76|WD repeat domain 76 [Source:MGI Symbol;Acc:MGI:1926186]|Heterozygous||T|C|54|35.0|Non-synonymous|Cryopreserved
5975880|IGL01013|14|26949476|Y->N|0.11|Benign|MGI:1920243|Appl1|adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 [Source:MGI Symbol;Acc:MGI:1920243]|Heterozygous|Mouse fibroblast cells homozygous for a knock-out allele exhibit reduced HGF-induced cell survival and migration.|A|T|51|38.0|Non-synonymous|Cryopreserved
5975881|IGL01013|5|76886206|E->D|0.99|Probably damaging|MGI:2442517|Aasdh|aminoadipate-semialdehyde dehydrogenase [Source:MGI Symbol;Acc:MGI:2442517]|Heterozygous||T|A|48|39.0|Non-synonymous|Cryopreserved
5975882|IGL01013|8|88742362|L->R|1.0|Probably damaging|MGI:1921506|Cyld|cylindromatosis (turban tumor syndrome) [Source:MGI Symbol;Acc:MGI:1921506]|Heterozygous|Mice homozygous for a targeted deletion of exon 9 display short, kinky tails and neonatal lethality associated with cyanosis, atelectasis, unexpanded lung saccules and hyperplastic mesenchyme. Mice homozygous for a targeted deletion of exons 7 and 8 exhibit abnormal B cell morphology and physiology.|T|G|48|38.5|Non-synonymous|Cryopreserved
5975883|IGL01013|5|8993575|Y->H|0.16|Benign|MGI:1921364|Crot|carnitine O-octanoyltransferase [Source:MGI Symbol;Acc:MGI:1921364]|Heterozygous||A|G|47|36.0|Non-synonymous|Cryopreserved
5975884|IGL01013|9|27334304|R->L|1.0|Probably damaging|MGI:2685354|Igsf9b|immunoglobulin superfamily, member 9B [Source:MGI Symbol;Acc:MGI:2685354]|Heterozygous||G|T|43|35.0|Non-synonymous|Cryopreserved
5975885|IGL01013|4|53038185|L->Stop||N/A|MGI:99607|Abca1|ATP-binding cassette, sub-family A (ABC1), member 1 [Source:MGI Symbol;Acc:MGI:99607]|Heterozygous|Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.|A|T|41|35.0|Non-synonymous|Cryopreserved
5975886|IGL01013|5|14793834|M->L|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|T|40|37.0|Non-synonymous|Cryopreserved
5975887|IGL01013|14|61370517|I->K|1.0|Probably damaging|MGI:1100863|Kpna3|karyopherin (importin) alpha 3 [Source:MGI Symbol;Acc:MGI:1100863]|Heterozygous||A|T|38|39.0|Non-synonymous|Cryopreserved
5975888|IGL01013|10|62944433|T->A|0.77|Possibly damaging|MGI:1920382|Slc25a16|solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16 [Source:MGI Symbol;Acc:MGI:1920382]|Heterozygous||A|G|34|37.0|Non-synonymous|Cryopreserved
5975889|IGL01013|10|41740869|R->Stop||N/A|MGI:1915511|Cep57l1|centrosomal protein 57-like 1 [Source:MGI Symbol;Acc:MGI:1915511]|Heterozygous||G|A|33|40.0|Non-synonymous|Cryopreserved
5975890|IGL01013|11|105625065|R->Q|0.86|Possibly damaging|MGI:2444121|Tanc2|tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:MGI Symbol;Acc:MGI:2444121]|Heterozygous|Mice homozygous for a gene trap vector die prior to E12.|G|A|33|40.0|Non-synonymous|Cryopreserved
5975891|IGL01013|2|14328425|W->R|1.0|Probably damaging|MGI:97142|Mrc1|mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]|Heterozygous|Male homozygotes for one targeted null mutation are reported to die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable.|T|C|33|37.0|Non-synonymous|Cryopreserved
5975892|IGL01013|18|20689013|V->A|1.0|Probably damaging|MGI:1928380|B4galt6|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 [Source:MGI Symbol;Acc:MGI:1928380]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|32|38.5|Non-synonymous|Cryopreserved
5975893|IGL01013|7|141648066|C->Stop||N/A|MGI:2663233|Muc6|mucin 6, gastric [Source:MGI Symbol;Acc:MGI:2663233]|Heterozygous||A|T|29|36.0|Non-synonymous|Cryopreserved
5975894|IGL01013|2|126323087|R->L|0.42|Benign|MGI:1859664|Atp8b4|ATPase, class I, type 8B, member 4 [Source:MGI Symbol;Acc:MGI:1859664]|Heterozygous||C|A|27|35.0|Non-synonymous|Cryopreserved
5975895|IGL01013|15|76599297|Q->Stop||N/A|MGI:2679722|Cpsf1|cleavage and polyadenylation specific factor 1 [Source:MGI Symbol;Acc:MGI:2679722]|Heterozygous||G|A|25|37.0|Non-synonymous|Cryopreserved
5975896|IGL01013|11|117722029|V->L|0.92|Possibly damaging|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||G|T|24|38.5|Non-synonymous|Cryopreserved
5975897|IGL01013|15|79146129|Y->C|1.0|Probably damaging|MGI:1349393|Polr2f|polymerase (RNA) II (DNA directed) polypeptide F [Source:MGI Symbol;Acc:MGI:1349393]|Heterozygous||A|G|23|34.0|Non-synonymous|Cryopreserved
5975898|IGL01013|17|25789054|E->G|0.24|Benign|MGI:2685784|Ccdc78|coiled-coil domain containing 78 [Source:MGI Symbol;Acc:MGI:2685784]|Heterozygous||A|G|22|35.0|Non-synonymous|Cryopreserved
5975899|IGL01013|9|3002230|Y->F||Benign|MGI:3642024|Gm10722|predicted gene 10722 [Source:MGI Symbol;Acc:MGI:3642024]|Heterozygous||A|T|22|35.5|Non-synonymous|Cryopreserved
5975900|IGL01013|15|89376310|H->Y|1.0|Probably damaging|MGI:1920212|Tymp|thymidine phosphorylase [Source:MGI Symbol;Acc:MGI:1920212]|Heterozygous|Mice homozygous for a null allele exhibit reduced thymidine phosphorylase activity and increased thymidine levels.|G|A|19|36.0|Non-synonymous|Cryopreserved
5975901|IGL01013|5|66283601|I->T|0.87|Possibly damaging|MGI:1918168|Nsun7|NOL1/NOP2/Sun domain family, member 7 [Source:MGI Symbol;Acc:MGI:1918168]|Heterozygous|Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath.|T|C|19|38.0|Non-synonymous|Cryopreserved
5975902|IGL01013|10|41581339|P->L|||MGI:1923223|Ccdc162|coiled-coil domain containing 162 [Source:MGI Symbol;Acc:MGI:1923223]|Heterozygous||G|A|18|40.0|Non-synonymous|Cryopreserved
5975903|IGL01013|1|72650989|I->F|0.36|Benign|MGI:2442559|Ankar|ankyrin and armadillo repeat containing [Source:MGI Symbol;Acc:MGI:2442559]|Heterozygous||T|A|17|39.0|Non-synonymous|Cryopreserved
5975904|IGL01013|3|63327860|N->S|0.99|Probably damaging|MGI:97004|Mme|membrane metallo endopeptidase [Source:MGI Symbol;Acc:MGI:97004]|Heterozygous||A|G|17|40.0|Non-synonymous|Cryopreserved
5975905|IGL01013|12|66284227|D->G|0.17|Benign|MGI:3647985|Rpl10l|ribosomal protein L10-like [Source:MGI Symbol;Acc:MGI:3647985]|Heterozygous||T|C|16|35.0|Non-synonymous|Cryopreserved
5975906|IGL01013|19|6404383|H->L|0.97|Probably damaging|MGI:1333849|Rasgrp2|RAS, guanyl releasing protein 2 [Source:MGI Symbol;Acc:MGI:1333849]|Heterozygous|Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection.|A|T|12|34.5|Non-synonymous|Cryopreserved
5975907|IGL01013|4|140729003|L->P|0.91|Possibly damaging|MGI:2655198|Padi6|peptidyl arginine deiminase, type VI [Source:MGI Symbol;Acc:MGI:2655198]|Heterozygous|Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility.|A|G|12|38.0|Non-synonymous|Cryopreserved
5975908|IGL01013|6|24604135|Q->K|0.98|Probably damaging|MGI:2135672|Lmod2|leiomodin 2 (cardiac) [Source:MGI Symbol;Acc:MGI:2135672]|Heterozygous||C|A|12|37.0|Non-synonymous|Cryopreserved
5975909|IGL01013|10|7839956|I->T|0.99|Probably damaging|MGI:3045313|Zc3h12d|zinc finger CCCH type containing 12D [Source:MGI Symbol;Acc:MGI:3045313]|Heterozygous||T|C|11|37.0|Non-synonymous|Cryopreserved
5975910|IGL01013|19|5729369|D->E||Benign|MGI:106595|Fam89b|family with sequence similarity 89, member B [Source:MGI Symbol;Acc:MGI:106595]|Heterozygous||G|T|11|35.0|Non-synonymous|Cryopreserved
5975911|IGL01013|7|139017573|E->A|||MGI:1921254|Jakmip3|janus kinase and microtubule interacting protein 3 [Source:MGI Symbol;Acc:MGI:1921254]|Heterozygous||A|C|11|38.0|Non-synonymous|Cryopreserved
5975912|IGL01013|5|33762590|C->S|0.73|Possibly damaging|MGI:1932557|Letm1|leucine zipper-EF-hand containing transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:1932557]|Heterozygous||A|T|10|39.0|Non-synonymous|Cryopreserved
5975913|IGL01013|8|109579021|Disrupted splicing|||MGI:96211|Hp|haptoglobin [Source:MGI Symbol;Acc:MGI:96211]|Heterozygous||C|A|86|35.0|Splice|Cryopreserved
5975914|IGL01013|10|56201959|Disrupted splicing|||MGI:2442827|D630037f22rik|RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]|Heterozygous|Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.|G|T|27|39.0|Splice|Cryopreserved
5975915|IGL01013|12|69827526|Disrupted splicing|||MGI:1925503|Map4k5|mitogen-activated protein kinase kinase kinase kinase 5 [Source:MGI Symbol;Acc:MGI:1925503]|Heterozygous|Mice homozygous for a knock-out allele are viable and phenotypically normal but show impaired canonical and noncanonical Wnt signaling in progenitor B lymphocytes.|T|C|27|35.0|Splice|Cryopreserved
5975916|IGL01013|13|112997585|Disrupted splicing|||MGI:3648807|Mcin|multiciliate cell differentiation [Source:MGI Symbol;Acc:MGI:3648807]|Heterozygous||T|A|20|35.0|Splice|Cryopreserved
5975917|IGL01013|5|65031395|Disrupted splicing|||MGI:1915553|Fam114a1|family with sequence similarity 114, member A1 [Source:MGI Symbol;Acc:MGI:1915553]|Heterozygous||G|A|13|41.0|Splice|Cryopreserved
5975918|IGL01013|19|55919627|Disrupted splicing|||MGI:1202879|Tcf7l2|transcription factor 7 like 2, T cell specific, HMG box [Source:MGI Symbol;Acc:MGI:1202879]|Heterozygous|Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth.|T|C|10|36.0|Splice|Cryopreserved
5975919|IGL01014|2|89943260|Y->C|1.0|Probably damaging|MGI:3031093|Olfr1259|olfactory receptor 1259 [Source:MGI Symbol;Acc:MGI:3031093]|Heterozygous||T|C|212|37.0|Non-synonymous|Cryopreserved
5975920|IGL01014|6|129385430|N->Y|0.98|Probably damaging|MGI:1918433|Clec12b|C-type lectin domain family 12, member B [Source:MGI Symbol;Acc:MGI:1918433]|Heterozygous||T|A|188|35.5|Non-synonymous|Cryopreserved
5975921|IGL01014|3|69726386|V->I||Benign|MGI:2140103|Nmd3|NMD3 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2140103]|Heterozygous||G|A|139|38.0|Non-synonymous|Cryopreserved
5975922|IGL01014|2|52287158|M->I|0.12|Benign|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||C|A|132|38.0|Non-synonymous|Cryopreserved
5975923|IGL01014|5|52151924|V->D|1.0|Probably damaging|MGI:1099786|Dhx15|DEAH (Asp-Glu-Ala-His) box polypeptide 15 [Source:MGI Symbol;Acc:MGI:1099786]|Heterozygous||A|T|120|36.0|Non-synonymous|Cryopreserved
5975924|IGL01014|11|5872293|Q->K||Benign|MGI:1097163|Pold2|polymerase (DNA directed), delta 2, regulatory subunit [Source:MGI Symbol;Acc:MGI:1097163]|Heterozygous||G|T|98|37.0|Non-synonymous|Cryopreserved
5975925|IGL01014|12|75905277|D->N|0.82|Possibly damaging|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|G|A|90|39.0|Non-synonymous|Cryopreserved
5975926|IGL01014|16|96016173|F->L|0.06|Benign|MGI:1890651|Brwd1|bromodomain and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:1890651]|Heterozygous|Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages.|A|G|89|39.0|Non-synonymous|Cryopreserved
5975927|IGL01014|13|109949502|V->A|0.34|Benign|MGI:99555|Pde4d|phosphodiesterase 4D, cAMP specific [Source:MGI Symbol;Acc:MGI:99555]|Heterozygous|Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability.|T|C|84|36.5|Non-synonymous|Cryopreserved
5975928|IGL01014|1|189822633|R->Q|||MGI:102467|Ptpn14|protein tyrosine phosphatase, non-receptor type 14 [Source:MGI Symbol;Acc:MGI:102467]|Heterozygous|Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia.|G|A|83|35.0|Non-synonymous|Cryopreserved
5975929|IGL01014|7|101554908|C->F|||MGI:107546|Art2a-ps|ADP-ribosyltransferase 2a, pseudogene [Source:MGI Symbol;Acc:MGI:107546]|Heterozygous|A targeted mutation in this gene indirectly regulates T-cell apoptosis.|C|A|61|37.0|Non-synonymous|Cryopreserved
5975930|IGL01014|2|22332473|I->V|||MGI:2183924|Myo3a|myosin IIIA [Source:MGI Symbol;Acc:MGI:2183924]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration.|A|G|54|37.0|Non-synonymous|Cryopreserved
5975931|IGL01014|16|45394700|T->I|0.24|Benign|MGI:1196990|Cd200|CD200 antigen [Source:MGI Symbol;Acc:MGI:1196990]|Heterozygous|Mice homozygous for disruptions in this gene have increased levels of all macrophage lineages. Macrophage are activated and mice display an increased susceptibility to autoimmune disease.|G|A|51|38.0|Non-synonymous|Cryopreserved
5975932|IGL01014|11|120817229|K->E|0.5|Possibly damaging|MGI:95485|Fasn|fatty acid synthase [Source:MGI Symbol;Acc:MGI:95485]|Heterozygous|Targeted mutation of this locus has implicated its product in embryogenesis as all homozygotes and most heterozygotes die prior to birth.|T|C|46|40.0|Non-synonymous|Cryopreserved
5975933|IGL01014|7|64872634|D->E|0.04|Benign|MGI:1917888, MGI:1913897|Ndnl2,fam189a1|family with sequence similarity 189, member A1 [Source:MGI Symbol;Acc:MGI:1917888],necdin-like 2 [Source:MGI Symbol;Acc:MGI:1913897]|Heterozygous||G|T|46|35.0|Non-synonymous|Cryopreserved
5975934|IGL01014|6|23496874|N->K|0.2|Benign|MGI:2443963|Cadps2|Ca2+-dependent activator protein for secretion 2 [Source:MGI Symbol;Acc:MGI:2443963]|Heterozygous|Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior.|A|T|44|39.0|Non-synonymous|Cryopreserved
5975935|IGL01014|1|171574288|Y->C|1.0|Probably damaging|MGI:109294|Cd244|CD244 natural killer cell receptor 2B4 [Source:MGI Symbol;Acc:MGI:109294]|Heterozygous|Mice homozygous for a knock-out allele exhibit altered natural killer (NK) cell cytolysis.|A|G|43|38.0|Non-synonymous|Cryopreserved
5975936|IGL01014|1|58322801|F->S|0.27|Benign|MGI:3529596|Aox3l1|aldehyde oxidase 3-like 1 [Source:MGI Symbol;Acc:MGI:3529596]|Heterozygous||T|C|40|38.0|Non-synonymous|Cryopreserved
5975937|IGL01014|6|18423895|N->I|||MGI:1353467|Cttnbp2|cortactin binding protein 2 [Source:MGI Symbol;Acc:MGI:1353467]|Heterozygous||T|A|39|39.0|Non-synonymous|Cryopreserved
5975938|IGL01014|2|112021132|S->P|0.99|Probably damaging|MGI:3031145|Olfr1311|olfactory receptor 1311 [Source:MGI Symbol;Acc:MGI:3031145]|Heterozygous||A|G|36|39.5|Non-synonymous|Cryopreserved
5975939|IGL01014|9|104203218|I->T|||MGI:2676368|Dnajc13|DnaJ (Hsp40) homolog, subfamily C, member 13 [Source:MGI Symbol;Acc:MGI:2676368]|Heterozygous||A|G|34|35.5|Non-synonymous|Cryopreserved
5975940|IGL01014|9|109106034|H->L|0.12|Benign|MGI:2154238|Plxnb1|plexin B1 [Source:MGI Symbol;Acc:MGI:2154238]|Heterozygous|Homozygous null mutants are normal in embryonic development or in the adult, including angiogenic response induced by implanted tumors.|A|T|33|37.0|Non-synonymous|Cryopreserved
5975941|IGL01014|7|141214039|Q->R|0.85|Possibly damaging|MGI:1919250|1600016n20rik|RIKEN cDNA 1600016N20 gene [Source:MGI Symbol;Acc:MGI:1919250]|Heterozygous||T|C|28|38.5|Non-synonymous|Cryopreserved
5975942|IGL01014|7|139875660|M->I||Benign|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||G|A|27|39.0|Non-synonymous|Cryopreserved
5975943|IGL01014|10|60307522|T->A|||MGI:1890219|Cdh23|cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|T|C|26|37.0|Non-synonymous|Cryopreserved
5975944|IGL01014|2|87747125|F->L|0.01|Benign|MGI:3030974|Olfr1140|olfactory receptor 1140 [Source:MGI Symbol;Acc:MGI:3030974]|Heterozygous||T|C|26|39.5|Non-synonymous|Cryopreserved
5975945|IGL01014|7|139875661|H->Y|0.98|Probably damaging|MGI:1277167|Gpr123|G protein-coupled receptor 123 [Source:MGI Symbol;Acc:MGI:1277167]|Heterozygous||C|T|26|39.0|Non-synonymous|Cryopreserved
5975946|IGL01014|16|17649797|T->S|0.08|Benign|MGI:1919565|Ccdc74a|coiled-coil domain containing 74A [Source:MGI Symbol;Acc:MGI:1919565]|Heterozygous||A|T|25|35.0|Non-synonymous|Cryopreserved
5975947|IGL01014|2|85196215|I->T|0.04|Benign|MGI:2685197|Lrrc55|leucine rich repeat containing 55 [Source:MGI Symbol;Acc:MGI:2685197]|Heterozygous||A|G|25|37.0|Non-synonymous|Cryopreserved
5975948|IGL01014|8|22320882|Y->F|||MGI:2446460|Tpte|transmembrane phosphatase with tensin homology [Source:MGI Symbol;Acc:MGI:2446460]|Heterozygous||A|T|23|39.0|Non-synonymous|Cryopreserved
5975949|IGL01014|2|174297974|A->V||Unknown|MGI:95777|Gnas|GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Source:MGI Symbol;Acc:MGI:95777]|Heterozygous|Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.|C|T|21|35.0|Non-synonymous|Cryopreserved
5975950|IGL01014|4|43499502|R->C|1.0|Probably damaging|MGI:3036286|Arhgef39|Rho guanine nucleotide exchange factor (GEF) 39 [Source:MGI Symbol;Acc:MGI:3036286]|Heterozygous||G|A|19|35.0|Non-synonymous|Cryopreserved
5975951|IGL01014|4|119393579|R->L|0.98|Probably damaging|MGI:1920582|Ccdc30|coiled-coil domain containing 30 [Source:MGI Symbol;Acc:MGI:1920582]|Heterozygous||C|A|19|40.0|Non-synonymous|Cryopreserved
5975952|IGL01014|4|155657730|V->M|1.0|Probably damaging|MGI:2679684|Mib2|mindbomb homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2679684]|Heterozygous||C|T|19|37.0|Non-synonymous|Cryopreserved
5975953|IGL01014|5|115256983|L->Q|1.0|Probably damaging|MGI:1859162|Rnf10|ring finger protein 10 [Source:MGI Symbol;Acc:MGI:1859162]|Heterozygous||A|T|18|39.5|Non-synonymous|Cryopreserved
5975954|IGL01014|5|3968683|E->G|0.22|Benign|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||A|G|16|35.0|Non-synonymous|Cryopreserved
5975955|IGL01014|4|85049908|E->G|0.24|Benign|MGI:2443104|Cntln|centlein, centrosomal protein [Source:MGI Symbol;Acc:MGI:2443104]|Heterozygous||A|G|12|38.5|Non-synonymous|Cryopreserved
5975956|IGL01014|14|101920557|Disrupted splicing|||MGI:1353586|Lmo7|LIM domain only 7 [Source:MGI Symbol;Acc:MGI:1353586]|Heterozygous|Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration.|G|A|203|34.0|Splice|Cryopreserved
5975957|IGL01014|11|78179457|Disrupted splicing|||MGI:1915572|Tlcd1|TLC domain containing 1 [Source:MGI Symbol;Acc:MGI:1915572]|Heterozygous||G|A|113|38.0|Splice|Cryopreserved
5975958|IGL01014|17|26117009|Disrupted splicing|||MGI:1926283|Tmem8|transmembrane protein 8 (five membrane-spanning domains) [Source:MGI Symbol;Acc:MGI:1926283]|Heterozygous||T|A|92|35.0|Splice|Cryopreserved
5975959|IGL01014|6|73074781|Disrupted splicing|||MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||A|G|63|39.0|Splice|Cryopreserved
5975960|IGL01014|3|114123809|Disrupted splicing|||MGI:88446|Col11a1|collagen, type XI, alpha 1 [Source:MGI Symbol;Acc:MGI:88446]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.|C|T|41|39.0|Splice|Cryopreserved
5975961|IGL01014|7|75750633|Disrupted splicing|||MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||T|C|30|35.0|Splice|Cryopreserved
5975962|IGL01014|7|16178947|Disrupted splicing|||MGI:108519|Meis3|Meis homeobox 3 [Source:MGI Symbol;Acc:MGI:108519]|Heterozygous||C|T|20|35.0|Splice|Cryopreserved
5975963|IGL01015|7|86412790|T->A|1.0|Probably damaging|MGI:3030135|Olfr301|olfactory receptor 301 [Source:MGI Symbol;Acc:MGI:3030135]|Heterozygous||A|G|541|39.0|Non-synonymous|Cryopreserved
5975964|IGL01015|2|86046652|M->L|0.45|Possibly damaging|MGI:3030868|Olfr1034|olfactory receptor 1034 [Source:MGI Symbol;Acc:MGI:3030868]|Heterozygous||A|T|459|38.0|Non-synonymous|Cryopreserved
5975965|IGL01015|5|94963887|C->S|||MGI:3779753|Gm7647|predicted gene 7647 [Source:MGI Symbol;Acc:MGI:3779753]|Heterozygous||T|A|198|39.0|Non-synonymous|Cryopreserved
5975966|IGL01015|9|21120700|S->P||Benign|MGI:1929470|Tyk2|tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:1929470]|Heterozygous|Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function.|A|G|194|35.0|Non-synonymous|Cryopreserved
5975967|IGL01015|14|76418741|I->V|0.01|Benign|MGI:109127|Tsc22d1|TSC22 domain family, member 1 [Source:MGI Symbol;Acc:MGI:109127]|Heterozygous|Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights.|A|G|192|39.0|Non-synonymous|Cryopreserved
5975968|IGL01015|11|49444374|N->K|||MGI:3031222|Olfr1388|olfactory receptor 1388 [Source:MGI Symbol;Acc:MGI:3031222]|Heterozygous||T|A|145|37.0|Non-synonymous|Cryopreserved
5975969|IGL01015|7|28155318|C->R|1.0|Probably damaging|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||T|C|139|35.0|Non-synonymous|Cryopreserved
5975970|IGL01015|11|46676343|Y->C|1.0|Probably damaging|MGI:2159681|Timd2|T cell immunoglobulin and mucin domain containing 2 [Source:MGI Symbol;Acc:MGI:2159681]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated inflammatory response.|T|C|113|37.0|Non-synonymous|Cryopreserved
5975971|IGL01015|16|93862646|C->Y|||MGI:2136841|Morc3|microrchidia 3 [Source:MGI Symbol;Acc:MGI:2136841]|Heterozygous|Mice homozygous for a null allele die at or within a day of birth.|G|A|97|39.0|Non-synonymous|Cryopreserved
5975972|IGL01015|4|64017334|I->K|0.02|Benign|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|A|T|91|39.0|Non-synonymous|Cryopreserved
5975973|IGL01015|10|89035099|Y->H|1.0|Probably damaging|MGI:2443344|Ano4|anoctamin 4 [Source:MGI Symbol;Acc:MGI:2443344]|Heterozygous||A|G|86|37.0|Non-synonymous|Cryopreserved
5975974|IGL01015|9|79633741|V->A|0.66|Possibly damaging|MGI:88448|Col12a1|collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]|Heterozygous||A|G|81|39.0|Non-synonymous|Cryopreserved
5975975|IGL01015|5|110187717|M->R||Benign|MGI:96958|Golga3|golgi autoantigen, golgin subfamily a, 3 [Source:MGI Symbol;Acc:MGI:96958]|Heterozygous|Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile.|T|G|80|39.0|Non-synonymous|Cryopreserved
5975976|IGL01015|10|120142790|Y->Stop||N/A|MGI:1921164|Irak3|interleukin-1 receptor-associated kinase 3 [Source:MGI Symbol;Acc:MGI:1921164]|Heterozygous|Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age.|A|T|79|36.0|Non-synonymous|Cryopreserved
5975977|IGL01015|1|171025789|S->G|||MGI:2179523|Fcgr4|Fc receptor, IgG, low affinity IV [Source:MGI Symbol;Acc:MGI:2179523]|Heterozygous||A|G|71|39.0|Non-synonymous|Cryopreserved
5975978|IGL01015|15|39846649|D->G|0.99|Probably damaging|MGI:1928679|Dpys|dihydropyrimidinase [Source:MGI Symbol;Acc:MGI:1928679]|Heterozygous||T|C|62|36.0|Non-synonymous|Cryopreserved
5975979|IGL01015|3|90242831|M->T||Unknown|MGI:1916603|Creb3l4|cAMP responsive element binding protein 3-like 4 [Source:MGI Symbol;Acc:MGI:1916603]|Heterozygous|Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility.|A|G|59|36.0|Non-synonymous|Cryopreserved
5975980|IGL01015|9|66094431|E->K|0.67|Possibly damaging|MGI:1928395|Snx1|sorting nexin 1 [Source:MGI Symbol;Acc:MGI:1928395]|Heterozygous|Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities.|C|T|56|36.5|Non-synonymous|Cryopreserved
5975981|IGL01015|15|4941542|D->N|0.95|Possibly damaging|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||G|A|50|39.0|Non-synonymous|Cryopreserved
5975982|IGL01015|5|87486614|R->Stop||N/A|MGI:2149905, MGI:3576095|Ugt2a2,ugt2a1|UDP glucuronosyltransferase 2 family, polypeptide A1 [Source:MGI Symbol;Acc:MGI:2149905]|Heterozygous||T|A|39|37.0|Non-synonymous|Cryopreserved
5975983|IGL01015|15|77389855|T->A||Unknown|MGI:1923011|Apol7a|apolipoprotein L 7a [Source:MGI Symbol;Acc:MGI:1923011]|Heterozygous||T|C|38|39.0|Non-synonymous|Cryopreserved
5975984|IGL01015|1|20523258|H->Y|1.0|Probably damaging|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|G|A|35|38.0|Non-synonymous|Cryopreserved
5975985|IGL01015|5|37085406|E->Stop||N/A|MGI:1923321|Jakmip1|janus kinase and microtubule interacting protein 1 [Source:MGI Symbol;Acc:MGI:1923321]|Heterozygous||G|T|26|35.0|Non-synonymous|Cryopreserved
5975986|IGL01015|7|21133836|V->E|||MGI:3647341|Vmn1r122|vomeronasal 1 receptor 122 [Source:MGI Symbol;Acc:MGI:3647341]|Heterozygous||A|T|22|33.0|Non-synonymous|Cryopreserved
5975987|IGL01015|18|61259825|R->Q||Unknown|MGI:3647575, MGI:97524|Pde6a,gm8841|phosphodiesterase 6A, cGMP-specific, rod, alpha [Source:MGI Symbol;Acc:MGI:97524],predicted gene 8841 [Source:MGI Symbol;Acc:MGI:3647575]|Heterozygous|NO_PHENOTYPE,Homozygous mutant mice have retinal degeneration.|C|T|16|34.5|Non-synonymous|Cryopreserved
5975988|IGL01015|16|32274069|V->A|0.97|Probably damaging|MGI:1916826|2310010m20rik|RIKEN cDNA 2310010M20 gene [Source:MGI Symbol;Acc:MGI:1916826]|Heterozygous||T|C|12|39.0|Non-synonymous|Cryopreserved
5975989|IGL01015|5|150422787|D->G|0.06|Benign|MGI:2443895|Fry|furry homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443895]|Heterozygous||A|G|10|38.0|Non-synonymous|Cryopreserved
5975990|IGL01015|14|30051742|Disrupted splicing|||MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|A|T|167|39.0|Splice|Cryopreserved
5975991|IGL01015|6|90358901|Disrupted splicing|||MGI:2385332|Uroc1|urocanase domain containing 1 [Source:MGI Symbol;Acc:MGI:2385332]|Heterozygous||G|T|65|38.0|Splice|Cryopreserved
5975992|IGL01015|13|12601734|Disrupted splicing|||MGI:1914725|Ero1lb|ERO1-like beta (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914725]|Heterozygous|Mice homozygous for a gene trap allele exhibit increased circulating glucose levels, decreased pancreas insulin levels, and disorganized islets.|A|G|38|36.5|Splice|Cryopreserved
5975993|IGL01015|6|24501006|Disrupted splicing|||MGI:3041159|Iqub|IQ motif and ubiquitin domain containing [Source:MGI Symbol;Acc:MGI:3041159]|Heterozygous||A|T|33|37.0|Splice|Cryopreserved
5975994|IGL01016|7|104893036|N->K|||MGI:3030500|Olfr666|olfactory receptor 666 [Source:MGI Symbol;Acc:MGI:3030500]|Heterozygous||A|T|213|39.0|Non-synonymous|Cryopreserved
5975995|IGL01016|13|23250067|Y->F|1.0|Probably damaging|MGI:3649245|Vmn1r223|vomeronasal 1 receptor 223 [Source:MGI Symbol;Acc:MGI:3649245]|Heterozygous||A|T|210|39.0|Non-synonymous|Cryopreserved
5975996|IGL01016|12|105164404|R->Stop||N/A|MGI:1351601|Tcl1b1|T cell leukemia/lymphoma 1B, 1 [Source:MGI Symbol;Acc:MGI:1351601]|Heterozygous||A|T|145|35.0|Non-synonymous|Cryopreserved
5975997|IGL01016|19|30133493|S->F|0.61|Possibly damaging|MGI:1341155|Gldc|glycine decarboxylase [Source:MGI Symbol;Acc:MGI:1341155]|Heterozygous||G|A|122|38.0|Non-synonymous|Cryopreserved
5975998|IGL01016|10|43022878|Y->F|1.0|Probably damaging|MGI:1924427|Sobp|sine oculis-binding protein homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924427]|Heterozygous|Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time.|T|A|117|37.0|Non-synonymous|Cryopreserved
5975999|IGL01016|9|24750321|D->G|0.99|Probably damaging|MGI:1888496|Tbx20|T-box 20 [Source:MGI Symbol;Acc:MGI:1888496]|Heterozygous|Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation.|T|C|114|37.0|Non-synonymous|Cryopreserved
5976000|IGL01016|7|44595386|R->W|1.0|Probably damaging|MGI:96669|Kcnc3|potassium voltage gated channel, Shaw-related subfamily, member 3 [Source:MGI Symbol;Acc:MGI:96669]|Heterozygous|Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus.|C|T|103|38.0|Non-synonymous|Cryopreserved
5976001|IGL01016|17|43479084|E->G|0.57|Possibly damaging|MGI:96963|Mep1a|meprin 1 alpha [Source:MGI Symbol;Acc:MGI:96963]|Heterozygous||T|C|85|37.0|Non-synonymous|Cryopreserved
5976002|IGL01016|9|38775441|F->Y|0.95|Probably damaging|MGI:3030755|Olfr921|olfactory receptor 921 [Source:MGI Symbol;Acc:MGI:3030755]|Heterozygous||T|A|81|39.0|Non-synonymous|Cryopreserved
5976003|IGL01016|17|46400077|S->P|0.28|Benign|MGI:1889348|Zfp318|zinc finger protein 318 [Source:MGI Symbol;Acc:MGI:1889348]|Heterozygous||T|C|70|39.0|Non-synonymous|Cryopreserved
5976004|IGL01016|18|82668690|A->V|0.89|Possibly damaging|MGI:1926950|Zfp236|zinc finger protein 236 [Source:MGI Symbol;Acc:MGI:1926950]|Heterozygous||G|A|70|37.0|Non-synonymous|Cryopreserved
5976005|IGL01016|8|10031612|Q->R|0.06|Benign|MGI:1344376|Tnfsf13b|tumor necrosis factor (ligand) superfamily, member 13b [Source:MGI Symbol;Acc:MGI:1344376]|Heterozygous|Homozygous null mice have reduced number of B cells and reduced levels of immunoglobulins.|A|G|63|38.0|Non-synonymous|Cryopreserved
5976006|IGL01016|4|88392015|V->I|0.22|Benign|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||G|A|61|37.0|Non-synonymous|Cryopreserved
5976007|IGL01016|7|90161318|D->V|1.0|Probably damaging|MGI:2385902|Picalm|phosphatidylinositol binding clathrin assembly protein [Source:MGI Symbol;Acc:MGI:2385902]|Heterozygous|Mice homozygous for different ENU-induced mutations are small and runted and display anemia of variable severity.|A|T|60|39.5|Non-synonymous|Cryopreserved
5976008|IGL01016|7|30254251|T->A||Benign|MGI:1923696|Wdr62|WD repeat domain 62 [Source:MGI Symbol;Acc:MGI:1923696]|Heterozygous||T|C|55|38.0|Non-synonymous|Cryopreserved
5976009|IGL01016|17|57066839|I->V|0.87|Possibly damaging|MGI:1918035|Dennd1c|DENN/MADD domain containing 1C [Source:MGI Symbol;Acc:MGI:1918035]|Heterozygous||T|C|50|38.0|Non-synonymous|Cryopreserved
5976010|IGL01016|4|96757947|Y->F||Benign|MGI:3650206|Gm12695|predicted gene 12695 [Source:MGI Symbol;Acc:MGI:3650206]|Heterozygous||T|A|49|39.0|Non-synonymous|Cryopreserved
5976011|IGL01016|18|44007644|Y->H|1.0|Probably damaging|MGI:1919682|Spink5|serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]|Heterozygous|Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.|T|C|48|40.0|Non-synonymous|Cryopreserved
5976012|IGL01016|1|37875183|Y->H|1.0|Probably damaging|MGI:3645211|Lipt1|lipoyltransferase 1 [Source:MGI Symbol;Acc:MGI:3645211]|Heterozygous||T|C|47|34.0|Non-synonymous|Cryopreserved
5976013|IGL01016|14|34822639|Q->Stop||N/A|MGI:95812|Grid1|glutamate receptor, ionotropic, delta 1 [Source:MGI Symbol;Acc:MGI:95812]|Heterozygous|Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury.|C|T|46|38.0|Non-synonymous|Cryopreserved
5976014|IGL01016|1|6844323|G->V|0.99|Probably damaging|MGI:2446700|St18|suppression of tumorigenicity 18 [Source:MGI Symbol;Acc:MGI:2446700]|Heterozygous||G|T|43|38.0|Non-synonymous|Cryopreserved
5976015|IGL01016|11|87797610|N->S|0.35|Benign|MGI:97137|Mpo|myeloperoxidase [Source:MGI Symbol;Acc:MGI:97137]|Heterozygous||A|G|42|35.0|Non-synonymous|Cryopreserved
5976016|IGL01016|15|9510208|V->E|0.95|Possibly damaging|MGI:96562|Il7r|interleukin 7 receptor [Source:MGI Symbol;Acc:MGI:96562]|Heterozygous||A|T|42|38.0|Non-synonymous|Cryopreserved
5976017|IGL01016|18|34578659|I->V|0.05|Benign|MGI:1922783|Nme5|NME/NM23 family member 5 [Source:MGI Symbol;Acc:MGI:1922783]|Heterozygous||T|C|37|38.0|Non-synonymous|Cryopreserved
5976018|IGL01016|3|88107560|L->P|||MGI:3028642|Iqgap3|IQ motif containing GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:3028642]|Heterozygous||T|C|36|36.5|Non-synonymous|Cryopreserved
5976019|IGL01016|14|52145836|Y->H||Unknown|MGI:1932134|Rpgrip1|retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]|Heterozygous|Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.|T|C|28|35.0|Non-synonymous|Cryopreserved
5976020|IGL01016|11|23885570|N->K|0.27|Benign|MGI:2442119|Papolg|poly(A) polymerase gamma [Source:MGI Symbol;Acc:MGI:2442119]|Heterozygous||A|T|21|41.0|Non-synonymous|Cryopreserved
5976021|IGL01016|15|98456305|Disrupted splicing|||MGI:3030115|Olfr281|olfactory receptor 281 [Source:MGI Symbol;Acc:MGI:3030115]|Heterozygous||T|A|125|39.0|Splice|Cryopreserved
5976022|IGL01016|5|51498031|Disrupted splicing|||MGI:1342774|Ppargc1a|peroxisome proliferative activated receptor, gamma, coactivator 1 alpha [Source:MGI Symbol;Acc:MGI:1342774]|Heterozygous|Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping.|T|A|66|36.0|Splice|Cryopreserved
5976023|IGL01016|1|110108956|Disrupted splicing|||MGI:2442792|Cdh7|cadherin 7, type 2 [Source:MGI Symbol;Acc:MGI:2442792]|Heterozygous||G|A|61|39.0|Splice|Cryopreserved
5976024|IGL01016|7|141164496|Disrupted splicing|||MGI:1195456|Rnh1|ribonuclease/angiogenin inhibitor 1 [Source:MGI Symbol;Acc:MGI:1195456]|Heterozygous||G|T|12|37.0|Splice|Cryopreserved
5976025|IGL01017|7|23321667|K->N|0.97|Probably damaging|MGI:3056600|Nlrp4e|NLR family, pyrin domain containing 4E [Source:MGI Symbol;Acc:MGI:3056600]|Heterozygous||A|T|553|37.0|Non-synonymous|Cryopreserved
5976026|IGL01017|6|132207231|Q->K||Unknown|MGI:2681872|Prb1|proline-rich protein BstNI subfamily 1 [Source:MGI Symbol;Acc:MGI:2681872]|Heterozygous||G|T|385|37.0|Non-synonymous|Cryopreserved
5976027|IGL01017|7|140652476|T->A|||MGI:1333749|Olfr53|olfactory receptor 53 [Source:MGI Symbol;Acc:MGI:1333749]|Heterozygous||A|G|273|37.0|Non-synonymous|Cryopreserved
5976028|IGL01017|7|34021803|T->A|0.97|Probably damaging|MGI:87862|Scgb1b27|secretoglobin, family 1B, member 27 [Source:MGI Symbol;Acc:MGI:87862]|Heterozygous||A|G|191|39.0|Non-synonymous|Cryopreserved
5976029|IGL01017|1|107154457|D->G|0.37|Benign|MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||T|C|158|39.0|Non-synonymous|Cryopreserved
5976030|IGL01017|2|88391901|V->E|0.61|Possibly damaging|MGI:3031012|Olfr1178|olfactory receptor 1178 [Source:MGI Symbol;Acc:MGI:3031012]|Heterozygous||T|A|149|38.0|Non-synonymous|Cryopreserved
5976031|IGL01017|6|68571109|L->Stop||N/A|MGI:4439560|Igkv12-98|immunoglobulin kappa variable 12-98 [Source:MGI Symbol;Acc:MGI:4439560]|Heterozygous||T|A|145|37.0|Non-synonymous|Cryopreserved
5976032|IGL01017|7|24628870|C->F|1.0|Probably damaging|MGI:3642959|Phldb3|pleckstrin homology-like domain, family B, member 3 [Source:MGI Symbol;Acc:MGI:3642959]|Heterozygous||G|T|128|35.0|Non-synonymous|Cryopreserved
5976033|IGL01017|4|127088359|P->L||Benign|MGI:106505|Zmym6|zinc finger, MYM-type 6 [Source:MGI Symbol;Acc:MGI:106505]|Heterozygous||C|T|124|38.0|Non-synonymous|Cryopreserved
5976034|IGL01017|6|3965359|H->L||Benign|MGI:108543|Tfpi2|tissue factor pathway inhibitor 2 [Source:MGI Symbol;Acc:MGI:108543]|Heterozygous||T|A|122|40.0|Non-synonymous|Cryopreserved
5976035|IGL01017|3|116570851|R->S||Benign|MGI:1924557|Lrrc39|leucine rich repeat containing 39 [Source:MGI Symbol;Acc:MGI:1924557]|Heterozygous||A|T|115|38.0|Non-synonymous|Cryopreserved
5976036|IGL01017|15|91880707|C->W|1.0|Probably damaging|MGI:2676278|Muc19|mucin 19 [Source:MGI Symbol;Acc:MGI:2676278]|Heterozygous||T|G|112|38.0|Non-synonymous|Cryopreserved
5976037|IGL01017|8|122894728|K->R|1.0|Probably damaging|MGI:1924337, MGI:5141853|Ankrd11,gm20388|ankyrin repeat domain 11 [Source:MGI Symbol;Acc:MGI:1924337],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous|Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.,NO_PHENOTYPE|T|C|109|39.0|Non-synonymous|Cryopreserved
5976038|IGL01017|8|35384322|E->G|0.54|Possibly damaging|MGI:2177268|Ppp1r3b|protein phosphatase 1, regulatory (inhibitor) subunit 3B [Source:MGI Symbol;Acc:MGI:2177268]|Heterozygous|Mice homozygous for a knock-in point mutation exhibit improved glucose tolerance and increased weight loss and serum glucose level in response to a 36 hour fast.|A|G|104|37.0|Non-synonymous|Cryopreserved
5976039|IGL01017|1|74379796|L->H|0.86|Possibly damaging|MGI:1345275|Slc11a1|solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 [Source:MGI Symbol;Acc:MGI:1345275]|Heterozygous|Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection.|T|A|102|36.0|Non-synonymous|Cryopreserved
5976040|IGL01017|15|85244189|D->G|0.81|Possibly damaging|MGI:95487|Fbln1|fibulin 1 [Source:MGI Symbol;Acc:MGI:95487]|Heterozygous|Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities.|A|G|89|38.0|Non-synonymous|Cryopreserved
5976041|IGL01017|7|110125848|D->V||Benign|MGI:103075|Wee1|WEE 1 homolog 1 (S. pombe) [Source:MGI Symbol;Acc:MGI:103075]|Heterozygous||A|T|87|39.0|Non-synonymous|Cryopreserved
5976042|IGL01017|13|52968019|G->D|1.0|Probably damaging|MGI:109495|Nfil3|nuclear factor, interleukin 3, regulated [Source:MGI Symbol;Acc:MGI:109495]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased NK cell differentiation, numbers, and activity. Mice homozygous for a different knock-out allele exhibit reduced class switching and IgE production.|C|T|77|39.0|Non-synonymous|Cryopreserved
5976043|IGL01017|5|88459359|A->T|0.7|Possibly damaging|MGI:104655|Ambn|ameloblastin [Source:MGI Symbol;Acc:MGI:104655]|Heterozygous|Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.|G|A|75|38.0|Non-synonymous|Cryopreserved
5976044|IGL01017|12|31301064|D->G||Benign|MGI:96743|Lamb1|laminin B1 [Source:MGI Symbol;Acc:MGI:96743]|Heterozygous|Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. The mutant embryonic region shows no signs of cavitation, the mural trophectoderm and parietal endoderm appear disorganized, and trophoblast invasion is greatly reduced.|A|G|70|37.0|Non-synonymous|Cryopreserved
5976045|IGL01017|3|55171318|V->A||Benign|MGI:2444356|Ccdc169|coiled-coil domain containing 169 [Source:MGI Symbol;Acc:MGI:2444356]|Heterozygous||T|C|65|39.0|Non-synonymous|Cryopreserved
5976046|IGL01017|13|61568174|I->F|0.86|Possibly damaging|MGI:2151929|Cts3|cathepsin 3 [Source:MGI Symbol;Acc:MGI:2151929]|Heterozygous||T|A|63|39.0|Non-synonymous|Cryopreserved
5976047|IGL01017|11|70396894|R->W||Unknown|MGI:1922523|Pelp1|proline, glutamic acid and leucine rich protein 1 [Source:MGI Symbol;Acc:MGI:1922523]|Heterozygous||G|A|62|39.0|Non-synonymous|Cryopreserved
5976048|IGL01017|9|77981571|I->T|0.42|Benign|MGI:1916051|Elovl5|ELOVL family member 5, elongation of long chain fatty acids (yeast) [Source:MGI Symbol;Acc:MGI:1916051]|Heterozygous|Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility.|T|C|60|38.5|Non-synonymous|Cryopreserved
5976049|IGL01017|17|34693808|D->E|0.99|Probably damaging|MGI:1932137|Tnxb|tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]|Heterozygous|Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.|T|A|59|35.0|Non-synonymous|Cryopreserved
5976050|IGL01017|18|60245436|D->E|0.89|Possibly damaging|MGI:3644953|Gm4951|predicted gene 4951 [Source:MGI Symbol;Acc:MGI:3644953]|Heterozygous||T|A|51|40.0|Non-synonymous|Cryopreserved
5976051|IGL01017|16|33966902|V->A|0.04|Benign|MGI:1298388|Umps|uridine monophosphate synthetase [Source:MGI Symbol;Acc:MGI:1298388]|Heterozygous||A|G|48|35.5|Non-synonymous|Cryopreserved
5976052|IGL01017|19|53629327|V->A|1.0|Probably damaging|MGI:1339795|Smc3|structural maintenance of chromosomes 3 [Source:MGI Symbol;Acc:MGI:1339795]|Heterozygous||T|C|47|36.0|Non-synonymous|Cryopreserved
5976053|IGL01017|7|11930382|C->S|||MGI:2159643|Vmn1r76|vomeronasal 1 receptor 76 [Source:MGI Symbol;Acc:MGI:2159643]|Heterozygous||A|T|47|40.0|Non-synonymous|Cryopreserved
5976054|IGL01017|17|78863858|L->S|1.0|Probably damaging|MGI:1353449|Eif2ak2|eukaryotic translation initiation factor 2-alpha kinase 2 [Source:MGI Symbol;Acc:MGI:1353449]|Heterozygous|Mice homozygous for disruptions in this gene display altered susceptibility to viral infection.|A|G|40|36.5|Non-synonymous|Cryopreserved
5976055|IGL01017|7|29082543|I->N|0.93|Possibly damaging|MGI:99659|Ryr1|ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]|Heterozygous|Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.|A|T|39|39.0|Non-synonymous|Cryopreserved
5976056|IGL01017|12|81631762|V->I|0.46|Possibly damaging|MGI:1916730|Ttc9|tetratricopeptide repeat domain 9 [Source:MGI Symbol;Acc:MGI:1916730]|Heterozygous||G|A|31|39.0|Non-synonymous|Cryopreserved
5976058|IGL01017|4|120099246|H->Q|0.05|Benign|MGI:106589|Hivep3|human immunodeficiency virus type I enhancer binding protein 3 [Source:MGI Symbol;Acc:MGI:106589]|Heterozygous|Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells.|T|A|29|37.0|Non-synonymous|Cryopreserved
5976059|IGL01017|14|47708878|S->P|||MGI:109153|Ktn1|kinectin 1 [Source:MGI Symbol;Acc:MGI:109153]|Heterozygous|Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age.|T|C|26|39.0|Non-synonymous|Cryopreserved
5976060|IGL01017|14|121272774|A->V|||MGI:2446173|Farp1|FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived) [Source:MGI Symbol;Acc:MGI:2446173]|Heterozygous||C|T|21|33.0|Non-synonymous|Cryopreserved
5976061|IGL01017|3|26840722|I->F|0.99|Probably damaging|MGI:1918112|Spata16|spermatogenesis associated 16 [Source:MGI Symbol;Acc:MGI:1918112]|Heterozygous||A|T|21|37.0|Non-synonymous|Cryopreserved
5976062|IGL01017|8|63926523|R->S|||MGI:3644562|Gm4975|predicted gene 4975 [Source:MGI Symbol;Acc:MGI:3644562]|Heterozygous||G|T|20|39.5|Non-synonymous|Cryopreserved
5976063|IGL01017|2|177086832|H->L|0.99|Probably damaging|MGI:3650075|Gm14401|predicted gene 14401 [Source:MGI Symbol;Acc:MGI:3650075]|Heterozygous||A|T|17|39.0|Non-synonymous|Cryopreserved
5976064|IGL01017|11|43730493|N->S|0.99|Probably damaging|MGI:1914077|Ttc1|tetratricopeptide repeat domain 1 [Source:MGI Symbol;Acc:MGI:1914077]|Heterozygous||T|C|16|39.0|Non-synonymous|Cryopreserved
5976065|IGL01017|2|126709414|M->I|0.3|Benign|MGI:3642325|Gm10774|predicted pseudogene 10774 [Source:MGI Symbol;Acc:MGI:3642325]|Heterozygous||C|A|13|35.0|Non-synonymous|Cryopreserved
5976066|IGL01017|4|141067568|F->S|0.94|Possibly damaging|MGI:1913397|Necap2|NECAP endocytosis associated 2 [Source:MGI Symbol;Acc:MGI:1913397]|Heterozygous||A|G|13|35.0|Non-synonymous|Cryopreserved
5976067|IGL01017|11|32403993|S->Stop||N/A|MGI:2442062|Sh3pxd2b|SH3 and PX domains 2B [Source:MGI Symbol;Acc:MGI:2442062]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit abnormal craniofacial morphology, decreased bone density, impaired hearing secondary to otis media, reduced growth, size, and weight, and decreased white adipose tissue.|C|A|10|35.0|Non-synonymous|Cryopreserved
5976068|IGL01017|11|115392738|Q->K|0.21|Benign|MGI:2684867|Cdr2l|cerebellar degeneration-related protein 2-like [Source:MGI Symbol;Acc:MGI:2684867]|Heterozygous||C|A|10|37.0|Non-synonymous|Cryopreserved
5976069|IGL01017|1|20804815|Disrupted splicing|||MGI:101845|Mcm3|minichromosome maintenance deficient 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:101845]|Heterozygous|Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells.|A|C|131|35.0|Splice|Cryopreserved
5976070|IGL01017|11|97022603|Disrupted splicing|||MGI:1932575|Sp6|trans-acting transcription factor 6 [Source:MGI Symbol;Acc:MGI:1932575]|Heterozygous|Mice homozygous for a disruption at this locus display impaired skin, hair follicle, tooth and lung development as well as limb abnormalities and partial postnatal lethality.|A|G|81|35.0|Splice|Cryopreserved
5976071|IGL01017|16|45183811|Disrupted splicing|||MGI:1915091|Atg3|autophagy related 3 [Source:MGI Symbol;Acc:MGI:1915091]|Heterozygous|Mice homozygous for a conditional allele activated in T cells exhibit decreased autophagy, increased mitochondria and endoplasmic reticulum content, decreased T cell proliferation, and increased T cell apoptosis.|T|C|44|37.0|Splice|Cryopreserved
5976072|IGL01017|14|7917390|Disrupted splicing|||MGI:2446089|Flnb|filamin, beta [Source:MGI Symbol;Acc:MGI:2446089]|Heterozygous|Mouse homozygous for disruption of coding region due to a gene trapped vector exhibit partial prenatal and postnatal lethality, alteration in skeletal system including fusion of vertebrae and other skeletal elements.|G|T|22|36.5|Splice|Cryopreserved
5976073|IGL01017|18|12441143|Disrupted splicing|||MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|T|C|22|37.0|Splice|Cryopreserved
5976074|IGL01018|4|146892610|S->N|||MGI:3643401|Gm8935|predicted pseudogene 8935 [Source:MGI Symbol;Acc:MGI:3643401]|Heterozygous||C|T|820|37.0|Non-synonymous|Cryopreserved
5976075|IGL01018|4|156338435|P->H|||MGI:1316735|Vmn2r-ps160|vomeronasal 2, receptor 123 precursor [Source:RefSeq peptide;Acc:NP_033511]|Heterozygous||C|A|756|40.0|Non-synonymous|Cryopreserved
5976076|IGL01018|4|156334263|V->A|||MGI:1316735|Vmn2r-ps160|vomeronasal 2, receptor 123 precursor [Source:RefSeq peptide;Acc:NP_033511]|Heterozygous||T|C|488|39.0|Non-synonymous|Cryopreserved
5976077|IGL01018|4|156335590|M->T|||MGI:1316735|Vmn2r-ps160|vomeronasal 2, receptor 123 precursor [Source:RefSeq peptide;Acc:NP_033511]|Heterozygous||T|C|443|40.0|Non-synonymous|Cryopreserved
5976078|IGL01018|4|156351226|L->M|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||T|A|424|39.0|Non-synonymous|Cryopreserved
5976079|IGL01018|4|146892577|Q->R|||MGI:3643401|Gm8935|predicted pseudogene 8935 [Source:MGI Symbol;Acc:MGI:3643401]|Heterozygous||T|C|401|36.0|Non-synonymous|Cryopreserved
5976080|IGL01018|7|8908176|S->F|||MGI:3757872|Vmn2r40|vomeronasal 2, receptor 40 [Source:MGI Symbol;Acc:MGI:3757872]|Heterozygous||G|A|261|40.0|Non-synonymous|Cryopreserved
5976081|IGL01018|4|156334605|S->N|||MGI:1316735|Vmn2r-ps160|vomeronasal 2, receptor 123 precursor [Source:RefSeq peptide;Acc:NP_033511]|Heterozygous||G|A|221|39.0|Non-synonymous|Cryopreserved
5976082|IGL01018|4|156351038|T->I|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||C|T|213|36.0|Non-synonymous|Cryopreserved
5976083|IGL01018|4|156351037|T->S|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||A|T|211|35.0|Non-synonymous|Cryopreserved
5976084|IGL01018|5|25950723|H->N|||MGI:1914023|Speer4c|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:G3UY31]|Heterozygous||G|T|211|40.0|Non-synonymous|Cryopreserved
5976085|IGL01018|4|156350900|Q->P|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||A|C|188|40.0|Non-synonymous|Cryopreserved
5976086|IGL01018|4|156350899|Q->K|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||C|A|185|39.0|Non-synonymous|Cryopreserved
5976087|IGL01018|4|156350845|N->D|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||A|G|174|39.0|Non-synonymous|Cryopreserved
5976090|IGL01018|10|3120231|H->R||Benign|MGI:3588256|9230019h11rik|RIKEN cDNA 9230019H11 gene [Source:MGI Symbol;Acc:MGI:3588256]|Heterozygous||A|G|112|37.0|Non-synonymous|Cryopreserved
5976092|IGL01018|10|3120209|T->A|0.01|Benign|MGI:3588256|9230019h11rik|RIKEN cDNA 9230019H11 gene [Source:MGI Symbol;Acc:MGI:3588256]|Heterozygous||A|G|95|39.0|Non-synonymous|Cryopreserved
5976093|IGL01018|10|4450732|S->T||Benign|MGI:1920669|1700052n19rik|RIKEN cDNA 1700052N19 gene [Source:MGI Symbol;Acc:MGI:1920669]|Heterozygous||T|A|95|37.0|Non-synonymous|Cryopreserved
5976095|IGL01018|10|5642480|D->G|0.12|Benign|MGI:98933|Vip|vasoactive intestinal polypeptide [Source:MGI Symbol;Acc:MGI:98933]|Heterozygous|Homozygous null mutants display abnormal circadian rhythyms with a shorter period, abnormal phase, and in 1/4 arrhythmic circadian persistence.|A|G|79|39.0|Non-synonymous|Cryopreserved
5976096|IGL01018|10|3978708|V->A||Benign|MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||T|C|76|38.0|Non-synonymous|Cryopreserved
5976097|IGL01018|10|4007800|V->A||Benign|MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||T|C|74|37.0|Non-synonymous|Cryopreserved
5976098|IGL01018|10|6919968|R->Q|1.0|Probably damaging|MGI:2444159, MGI:97441|Ipcef1,oprm1|opioid receptor, mu 1 [Source:MGI Symbol;Acc:MGI:97441],interaction protein for cytohesin exchange factors 1 [Source:MGI Symbol;Acc:MGI:2444159]|Heterozygous|Homozygotes for null mutations exhibit isoform dependent loss of behavioral and gastrointestinal opioid responses and may also show impaired spatial memory, heightened nociception, reduced locomotor activity, increased hematopoietic proliferation, and decreased male fertility.,NO_PHENOTYPE|C|T|72|38.0|Non-synonymous|Cryopreserved
5976099|IGL01018|5|112809747|E->G|1.0|Probably damaging|MGI:1921626|Myo18b|myosin XVIIIb [Source:MGI Symbol;Acc:MGI:1921626]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities.|T|C|66|37.0|Non-synonymous|Cryopreserved
5976101|IGL01018|10|4512788|W->R|||MGI:2685067|Ccdc170|coiled-coil domain containing 170 [Source:MGI Symbol;Acc:MGI:2685067]|Heterozygous||T|C|56|36.5|Non-synonymous|Cryopreserved
5976103|IGL01018|11|59128069|V->M|||MGI:2681862|Obscn|obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]|Heterozygous||C|T|52|35.0|Non-synonymous|Cryopreserved
5976106|IGL01018|10|4514155|A->S|0.98|Probably damaging|MGI:2685067|Ccdc170|coiled-coil domain containing 170 [Source:MGI Symbol;Acc:MGI:2685067]|Heterozygous||G|T|44|37.0|Non-synonymous|Cryopreserved
5976107|IGL01018|10|4514114|V->A|||MGI:2685067|Ccdc170|coiled-coil domain containing 170 [Source:MGI Symbol;Acc:MGI:2685067]|Heterozygous||T|C|42|35.5|Non-synonymous|Cryopreserved
5976109|IGL01018|10|4427392|W->R||Benign|MGI:1913334|Rmnd1|required for meiotic nuclear division 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913334]|Heterozygous||A|G|30|36.5|Non-synonymous|Cryopreserved
5976110|IGL01018|10|6890551|A->V||Benign|MGI:97441, MGI:2444159|Ipcef1,oprm1|opioid receptor, mu 1 [Source:MGI Symbol;Acc:MGI:97441],interaction protein for cytohesin exchange factors 1 [Source:MGI Symbol;Acc:MGI:2444159]|Heterozygous|Homozygotes for null mutations exhibit isoform dependent loss of behavioral and gastrointestinal opioid responses and may also show impaired spatial memory, heightened nociception, reduced locomotor activity, increased hematopoietic proliferation, and decreased male fertility.,NO_PHENOTYPE|G|A|30|36.0|Non-synonymous|Cryopreserved
5976111|IGL01018|10|3125031|V->I||Unknown|MGI:3588256|9230019h11rik|RIKEN cDNA 9230019H11 gene [Source:MGI Symbol;Acc:MGI:3588256]|Heterozygous||G|A|24|40.0|Non-synonymous|Cryopreserved
5976112|IGL01018|10|4427290|S->T|0.01|Benign|MGI:1913334|Rmnd1|required for meiotic nuclear division 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913334]|Heterozygous||A|T|23|36.0|Non-synonymous|Cryopreserved
5976113|IGL01018|10|3259766|M->V||Benign|MGI:3774845|H60c|histocompatibility 60c [Source:MGI Symbol;Acc:MGI:3774845]|Heterozygous||T|C|20|37.5|Non-synonymous|Cryopreserved
5976114|IGL01018|10|3125193|L->F|0.74|Possibly damaging|MGI:3588256|9230019h11rik|RIKEN cDNA 9230019H11 gene [Source:MGI Symbol;Acc:MGI:3588256]|Heterozygous||C|T|18|37.0|Non-synonymous|Cryopreserved
5976115|IGL01018|10|3260343|F->V||Benign|MGI:3774845|H60c|histocompatibility 60c [Source:MGI Symbol;Acc:MGI:3774845]|Heterozygous||A|C|17|38.0|Non-synonymous|Cryopreserved
5976116|IGL01018|4|156338146|Disrupted splicing|||MGI:1316735|Vmn2r-ps160|vomeronasal 2, receptor 123 precursor [Source:RefSeq peptide;Acc:NP_033511]|Heterozygous||A|T|502|40.0|Splice|Cryopreserved
5976117|IGL01018|4|156350612|Disrupted splicing|||MGI:3643045|Vmn2r121|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:D3Z3M1]|Heterozygous||T|C|300|40.0|Splice|Cryopreserved
5976118|IGL01018|10|7037170|Disrupted splicing|||MGI:97441|Oprm1|opioid receptor, mu 1 [Source:MGI Symbol;Acc:MGI:97441]|Heterozygous|Homozygotes for null mutations exhibit isoform dependent loss of behavioral and gastrointestinal opioid responses and may also show impaired spatial memory, heightened nociception, reduced locomotor activity, increased hematopoietic proliferation, and decreased male fertility.|T|C|67|38.0|Splice|Cryopreserved
5976119|IGL01018|10|4454237|Disrupted splicing|||MGI:1920669|1700052n19rik|RIKEN cDNA 1700052N19 gene [Source:MGI Symbol;Acc:MGI:1920669]|Heterozygous||C|T|52|38.0|Splice|Cryopreserved
5976120|IGL01018|13|78025938|Disrupted splicing|||MGI:1922757, MGI:1915925|Fam172a,pou5f2|family with sequence similarity 172, member A [Source:MGI Symbol;Acc:MGI:1915925],POU domain class 5, transcription factor 2 [Source:MGI Symbol;Acc:MGI:1922757]|Heterozygous|Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count.,NO_PHENOTYPE|A|G|45|37.0|Splice|Cryopreserved
5976121|IGL01018|10|4032345|Disrupted splicing|||MGI:1924836|Mthfd1l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836]|Heterozygous||T|C|41|35.0|Splice|Cryopreserved
5976124|IGL01018|10|5814180|Disrupted splicing|||MGI:1918830|Mtrf1l|mitochondrial translational release factor 1-like [Source:MGI Symbol;Acc:MGI:1918830]|Heterozygous||A|G|11|40.0|Splice|Cryopreserved
5976125|IGL01018|14|19418856|P->L|||MGI:5433902, MGI:3663091|Ac242409.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QP72]|Heterozygous||G|A|10|36.5|Splice|Cryopreserved
5976126|IGL01019|17|55915671|V->A|0.99|Probably damaging|MGI:3643554|Rpl21-ps6|ribosomal protein L21, pseudogene 6 [Source:MGI Symbol;Acc:MGI:3643554]|Heterozygous||A|G|357|38.0|Non-synonymous|Cryopreserved
5976127|IGL01019|7|18794046|Y->Stop||N/A|MGI:1347252|Psg19|pregnancy specific glycoprotein 19 [Source:MGI Symbol;Acc:MGI:1347252]|Heterozygous||G|T|219|39.0|Non-synonymous|Cryopreserved
5976128|IGL01019|7|85738334|T->I|||MGI:3647591|Vmn2r72-ps|vomeronasal 2, receptor 72, pseudogene [Source:MGI Symbol;Acc:MGI:3647591]|Heterozygous||G|A|219|39.0|Non-synonymous|Cryopreserved
5976129|IGL01019|10|23950432|D->V|1.0|Probably damaging|MGI:3527427|Taar3|trace amine-associated receptor 3 [Source:MGI Symbol;Acc:MGI:3527427]|Heterozygous||A|T|209|35.0|Non-synonymous|Cryopreserved
5976130|IGL01019|7|85406531|T->A|||MGI:3761311|Vmn2r69|vomeronasal 2, receptor 69 [Source:MGI Symbol;Acc:MGI:3761311]|Heterozygous||T|C|197|38.0|Non-synonymous|Cryopreserved
5976131|IGL01019|2|76856821|E->Stop||N/A|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|C|A|195|37.0|Non-synonymous|Cryopreserved
5976132|IGL01019|3|64259883|C->Y|1.0|Probably damaging|MGI:3643995|Vmn2r3|vomeronasal 2, receptor 3 [Source:MGI Symbol;Acc:MGI:3643995]|Heterozygous||C|T|138|39.0|Non-synonymous|Cryopreserved
5976133|IGL01019|3|144813627|Q->Stop||N/A|MGI:1931471|Clca2|chloride channel calcium activated 2 [Source:MGI Symbol;Acc:MGI:1931471]|Heterozygous||G|A|137|39.0|Non-synonymous|Cryopreserved
5976134|IGL01019|8|129061618|S->T|0.74|Possibly damaging|MGI:1921953|Ccdc7|coiled-coil domain containing 7 [Source:MGI Symbol;Acc:MGI:1921953]|Heterozygous||A|T|133|39.0|Non-synonymous|Cryopreserved
5976135|IGL01019|7|23577186|M->R|||MGI:3782408|Vmn1r169|vomeronasal 1 receptor 169 [Source:MGI Symbol;Acc:MGI:3782408]|Heterozygous||T|G|121|37.0|Non-synonymous|Cryopreserved
5976136|IGL01019|8|107367514|A->S|0.74|Possibly damaging|MGI:1859333|Nfat5|nuclear factor of activated T cells 5 [Source:MGI Symbol;Acc:MGI:1859333]|Heterozygous|Homozygous null mutation of this gene results in progressive renal atrophy and disruption of osmoprotective gene expression.|G|T|103|37.0|Non-synonymous|Cryopreserved
5976137|IGL01019|11|85039265|V->A|||MGI:2144475|Usp32|ubiquitin specific peptidase 32 [Source:MGI Symbol;Acc:MGI:2144475]|Heterozygous||A|G|96|37.0|Non-synonymous|Cryopreserved
5976138|IGL01019|5|32893401|M->I|1.0|Probably damaging|MGI:2141101|Depdc5|DEP domain containing 5 [Source:MGI Symbol;Acc:MGI:2141101]|Heterozygous||G|T|93|40.0|Non-synonymous|Cryopreserved
5976139|IGL01019|10|18124895|R->G|1.0|Probably damaging|MGI:1196373|Reps1|RalBP1 associated Eps domain containing protein [Source:MGI Symbol;Acc:MGI:1196373]|Heterozygous||A|G|88|37.0|Non-synonymous|Cryopreserved
5976140|IGL01019|10|77542403|S->P|0.76|Possibly damaging|MGI:96611|Itgb2|integrin beta 2 [Source:MGI Symbol;Acc:MGI:96611]|Heterozygous|Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis.|T|C|85|35.0|Non-synonymous|Cryopreserved
5976141|IGL01019|7|27878617|C->S|1.0|Probably damaging|MGI:3584526|Zfp607|zinc finger proten 607 [Source:MGI Symbol;Acc:MGI:3584526]|Heterozygous||T|A|83|38.0|Non-synonymous|Cryopreserved
5976142|IGL01019|2|122264083|N->K|0.9|Possibly damaging|MGI:98266|Sord|sorbitol dehydrogenase [Source:MGI Symbol;Acc:MGI:98266]|Heterozygous|Mice homozygous for a functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains.|T|A|80|37.0|Non-synonymous|Cryopreserved
5976143|IGL01019|12|87450941|E->G|||MGI:1913604|Snw1|SNW domain containing 1 [Source:MGI Symbol;Acc:MGI:1913604]|Heterozygous||T|C|79|39.0|Non-synonymous|Cryopreserved
5976144|IGL01019|10|7705671|V->A|1.0|Probably damaging|MGI:1333883|Lats1|large tumor suppressor [Source:MGI Symbol;Acc:MGI:1333883]|Heterozygous|Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors.|T|C|78|37.0|Non-synonymous|Cryopreserved
5976145|IGL01019|15|101438431|Q->K|0.99|Probably damaging|MGI:3665486|Krt83|keratin 83 [Source:MGI Symbol;Acc:MGI:3665486]|Heterozygous||G|T|72|37.0|Non-synonymous|Cryopreserved
5976146|IGL01019|18|71809090|I->V||Benign|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|T|C|72|39.0|Non-synonymous|Cryopreserved
5976147|IGL01019|9|37661471|C->Y|1.0|Probably damaging|MGI:1918881|Panx3|pannexin 3 [Source:MGI Symbol;Acc:MGI:1918881]|Heterozygous||C|T|71|37.0|Non-synonymous|Cryopreserved
5976148|IGL01019|5|30405216|M->V||Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|T|C|69|38.0|Non-synonymous|Cryopreserved
5976149|IGL01019|8|76909214|N->Y|0.91|Possibly damaging|MGI:99459|Nr3c2|nuclear receptor subfamily 3, group C, member 2 [Source:MGI Symbol;Acc:MGI:99459]|Heterozygous|Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration.|A|T|67|38.0|Non-synonymous|Cryopreserved
5976150|IGL01019|17|33593003|R->H|0.82|Possibly damaging|MGI:107711|Myo1f|myosin IF [Source:MGI Symbol;Acc:MGI:107711]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired neutrophil migration and adhesion.|G|A|63|35.0|Non-synonymous|Cryopreserved
5976152|IGL01019|5|35703375|L->P|||MGI:2678949|Sh3tc1|SH3 domain and tetratricopeptide repeats 1 [Source:MGI Symbol;Acc:MGI:2678949]|Heterozygous||A|G|53|35.0|Non-synonymous|Cryopreserved
5976153|IGL01019|12|55490542|Y->F|0.99|Probably damaging|MGI:104741|Nfkbia|nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha [Source:MGI Symbol;Acc:MGI:104741]|Heterozygous|Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells.|T|A|50|35.0|Non-synonymous|Cryopreserved
5976154|IGL01019|14|52131176|D->E||Unknown|MGI:1932134|Rpgrip1|retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]|Heterozygous|Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.|T|A|48|39.0|Non-synonymous|Cryopreserved
5976155|IGL01019|7|135678325|K->Stop||N/A|MGI:97813|Ptpre|protein tyrosine phosphatase, receptor type, E [Source:MGI Symbol;Acc:MGI:97813]|Heterozygous||A|T|48|37.0|Non-synonymous|Cryopreserved
5976156|IGL01019|11|75436507|E->V|0.77|Possibly damaging|MGI:107173|Serpinf2|serine (or cysteine) peptidase inhibitor, clade F, member 2 [Source:MGI Symbol;Acc:MGI:107173]|Heterozygous|Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected.|T|A|42|35.0|Non-synonymous|Cryopreserved
5976157|IGL01019|8|80615134|G->E|||MGI:2685641|Frem3|Fras1 related extracellular matrix protein 3 [Source:MGI Symbol;Acc:MGI:2685641]|Heterozygous||G|A|42|39.0|Non-synonymous|Cryopreserved
5976158|IGL01019|14|87472182|T->K|1.0|Probably damaging|MGI:2444023|Tdrd3|tudor domain containing 3 [Source:MGI Symbol;Acc:MGI:2444023]|Heterozygous||C|A|31|40.0|Non-synonymous|Cryopreserved
5976159|IGL01019|5|111421547|E->K|0.81|Possibly damaging|MGI:1261813|Mn1|meningioma 1 [Source:MGI Symbol;Acc:MGI:1261813]|Heterozygous|Homozygous null mice die shortly after birth due to cleft palate. Development of several bones in the skull was abnormal with completely absent alisphenoid, squamosal, and vomer bones, hypoplastic basisphenoid, pterygoid, and presphenoid bones, and thin frontal, parietal, and interparietal bones.|G|A|26|39.0|Non-synonymous|Cryopreserved
5976160|IGL01019|7|98135764|A->T|1.0|Probably damaging|MGI:1100859|Capn5|calpain 5 [Source:MGI Symbol;Acc:MGI:1100859]|Heterozygous|Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos.|C|T|25|37.0|Non-synonymous|Cryopreserved
5976161|IGL01019|12|87163801|P->T|1.0|Probably damaging|MGI:1341859|Gstz1|glutathione transferase zeta 1 (maleylacetoacetate isomerase) [Source:MGI Symbol;Acc:MGI:1341859]|Heterozygous|Mice homozygous for disruptions in this gene have essentially normal phenotypes but do display ketoaciduria and severe sensitivity to diets high in tyrosine or phenylalanine.|C|A|24|37.0|Non-synonymous|Cryopreserved
5976162|IGL01019|4|53694742|C->S|1.0|Probably damaging|MGI:2442443|Fsd1l|fibronectin type III and SPRY domain containing 1-like [Source:MGI Symbol;Acc:MGI:2442443]|Heterozygous||T|A|24|39.0|Non-synonymous|Cryopreserved
5976163|IGL01019|14|30031332|N->I|0.11|Benign|MGI:1860776|Chdh|choline dehydrogenase [Source:MGI Symbol;Acc:MGI:1860776]|Heterozygous|Homozygous male mutants show reduced fertility due to reduced sperm motility caused by abnormal mitochondrial function and structures.|A|T|23|35.0|Non-synonymous|Cryopreserved
5976164|IGL01019|15|79930628|G->D|0.99|Probably damaging|MGI:1196439|Cbx7|chromobox 7 [Source:MGI Symbol;Acc:MGI:1196439]|Heterozygous||C|T|22|35.0|Non-synonymous|Cryopreserved
5976165|IGL01019|1|143646757|R->S|0.08|Benign|MGI:2384876, MGI:1349461|Cdc73,b3galt2|cell division cycle 73, Paf1/RNA polymerase II complex component [Source:MGI Symbol;Acc:MGI:2384876],UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1349461]|Heterozygous|Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response.,Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation.|A|C|18|38.5|Non-synonymous|Cryopreserved
5976166|IGL01019|16|93810229|L->Q|0.14|Benign|MGI:1917278|Dopey2|dopey family member 2 [Source:MGI Symbol;Acc:MGI:1917278]|Heterozygous||T|A|18|37.0|Non-synonymous|Cryopreserved
5976167|IGL01019|7|142303910|S->R||Unknown|MGI:1354758|Krtap5-4|keratin associated protein 5-4 [Source:MGI Symbol;Acc:MGI:1354758]|Heterozygous||A|C|18|37.0|Non-synonymous|Cryopreserved
5976168|IGL01019|17|21020826|M->K|0.03|Benign|MGI:108187|Zfp160|zinc finger protein 160 [Source:MGI Symbol;Acc:MGI:108187]|Heterozygous||T|A|16|39.0|Non-synonymous|Cryopreserved
5976169|IGL01019|17|84691995|M->T|0.04|Benign|MGI:1914720|Abcg8|ATP-binding cassette, sub-family G (WHITE), member 8 [Source:MGI Symbol;Acc:MGI:1914720]|Heterozygous|Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels.|T|C|15|37.0|Non-synonymous|Cryopreserved
5976170|IGL01019|10|53629945|G->C||Unknown|MGI:1918817|Mcm9|minichromosome maintenance complex component 9 [Source:MGI Symbol;Acc:MGI:1918817]|Heterozygous||C|A|12|35.0|Non-synonymous|Cryopreserved
5976171|IGL01019|11|120012275|S->G||Benign|MGI:1197518|Aatk|apoptosis-associated tyrosine kinase [Source:MGI Symbol;Acc:MGI:1197518]|Heterozygous||T|C|12|32.5|Non-synonymous|Cryopreserved
5976172|IGL01019|11|115258110|A->T|0.1|Benign|MGI:95822|Grin2c|glutamate receptor, ionotropic, NMDA2C (epsilon 3) [Source:MGI Symbol;Acc:MGI:95822]|Heterozygous|Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices.|C|T|11|35.0|Non-synonymous|Cryopreserved
5976173|IGL01019|17|26198922|G->W|0.98|Probably damaging|MGI:1916441|Pdia2|protein disulfide isomerase associated 2 [Source:MGI Symbol;Acc:MGI:1916441]|Heterozygous||C|A|10|39.5|Non-synonymous|Cryopreserved
5976174|IGL01019|16|44909469|Disrupted splicing|||MGI:3042847|Cd200r2|Cd200 receptor 2 [Source:MGI Symbol;Acc:MGI:3042847]|Heterozygous||T|A|80|39.0|Splice|Cryopreserved
5976175|IGL01019|11|109417911|Disrupted splicing|||MGI:2444178|9930022d16rik|RIKEN cDNA 9930022D16 gene [Source:MGI Symbol;Acc:MGI:2444178]|Heterozygous||T|C|16|36.0|Splice|Cryopreserved
5976176|IGL01019|3|37006984|Disrupted splicing|||MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||G|T|12|40.0|Splice|Cryopreserved
5976177|IGL01020|6|125281340|R->H|1.0|Probably damaging|MGI:1095406|Tuba3a|tubulin, alpha 3A [Source:MGI Symbol;Acc:MGI:1095406]|Heterozygous||C|T|268|36.0|Non-synonymous|Cryopreserved
5976178|IGL01020|6|120808411|M->V|0.01|Benign|MGI:894326|Atp6v1e1|ATPase, H+ transporting, lysosomal V1 subunit E1 [Source:MGI Symbol;Acc:MGI:894326]|Heterozygous||T|C|250|39.0|Non-synonymous|Cryopreserved
5976179|IGL01020|7|130824361|I->N|0.97|Probably damaging|MGI:3045247|Btbd16|BTB (POZ) domain containing 16 [Source:MGI Symbol;Acc:MGI:3045247]|Heterozygous||T|A|201|36.0|Non-synonymous|Cryopreserved
5976180|IGL01020|3|68963679|D->N|0.04|Benign|MGI:1915509|Ift80|intraflagellar transport 80 [Source:MGI Symbol;Acc:MGI:1915509]|Heterozygous|Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium.|C|T|195|39.0|Non-synonymous|Cryopreserved
5976181|IGL01020|9|39078451|I->R|0.76|Possibly damaging|MGI:3030772|Olfr938|olfactory receptor 938 [Source:MGI Symbol;Acc:MGI:3030772]|Heterozygous||A|C|173|39.0|Non-synonymous|Cryopreserved
5976182|IGL01020|14|55868448|M->V|0.15|Benign|MGI:2652872|Nynrin|NYN domain and retroviral integrase containing [Source:MGI Symbol;Acc:MGI:2652872]|Heterozygous||A|G|159|35.0|Non-synonymous|Cryopreserved
5976183|IGL01020|7|19518749|V->M|||MGI:1916797|Nkpd1|NTPase, KAP family P-loop domain containing 1 [Source:MGI Symbol;Acc:MGI:1916797]|Heterozygous||G|A|123|36.0|Non-synonymous|Cryopreserved
5976184|IGL01020|9|19585320|S->N|0.34|Benign|MGI:3030689|Olfr855|olfactory receptor 855 [Source:MGI Symbol;Acc:MGI:3030689]|Heterozygous||G|A|111|38.0|Non-synonymous|Cryopreserved
5976185|IGL01020|11|67283403|V->M|0.91|Possibly damaging|MGI:1339712|Myh8|myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]|Heterozygous||G|A|110|37.0|Non-synonymous|Cryopreserved
5976186|IGL01020|6|135211906|V->M|0.01|Benign|MGI:1921775|8430419l09rik|RIKEN cDNA 8430419L09 gene [Source:MGI Symbol;Acc:MGI:1921775]|Heterozygous||G|A|98|36.0|Non-synonymous|Cryopreserved
5976187|IGL01020|16|73928151|T->A|0.06|Benign|MGI:1890110|Robo2|roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]|Heterozygous|Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.|T|C|79|36.0|Non-synonymous|Cryopreserved
5976188|IGL01020|3|132727142|Q->Stop||N/A|MGI:2445052|Tbck|TBC1 domain containing kinase [Source:MGI Symbol;Acc:MGI:2445052]|Heterozygous||C|T|76|39.0|Non-synonymous|Cryopreserved
5976189|IGL01020|4|105075462|R->Q|1.0|Probably damaging|MGI:1336173|Prkaa2|protein kinase, AMP-activated, alpha 2 catalytic subunit [Source:MGI Symbol;Acc:MGI:1336173]|Heterozygous|Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance.|C|T|72|39.0|Non-synonymous|Cryopreserved
5976190|IGL01020|7|132567173|D->G||Benign|MGI:97394|Oat|ornithine aminotransferase [Source:MGI Symbol;Acc:MGI:97394]|Heterozygous|Homozygous null mutants show neonatal hypoornithinemia and increased mortality that is prevented by administering arginine. Homozygotes develop hyperornithinemia post-weaning with gradual degeneration of pigment epithelium and photoreceptors.|T|C|72|39.0|Non-synonymous|Cryopreserved
5976191|IGL01020|2|63979010|S->P|0.9|Possibly damaging|MGI:1890647|Fign|fidgetin [Source:MGI Symbol;Acc:MGI:1890647]|Heterozygous|Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal defects.|A|G|63|37.0|Non-synonymous|Cryopreserved
5976192|IGL01020|2|40998247|W->R|1.0|Probably damaging|MGI:2151136|Lrp1b|low density lipoprotein-related protein 1B (deleted in tumors) [Source:MGI Symbol;Acc:MGI:2151136]|Heterozygous|Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.|A|G|56|39.0|Non-synonymous|Cryopreserved
5976193|IGL01020|2|21212494|L->S|0.78|Possibly damaging|MGI:2139347|Thnsl1|threonine synthase-like 1 (bacterial) [Source:MGI Symbol;Acc:MGI:2139347]|Heterozygous||T|C|55|38.0|Non-synonymous|Cryopreserved
5976194|IGL01020|11|29544973|D->G|0.9|Possibly damaging|MGI:1924034|Mtif2|mitochondrial translational initiation factor 2 [Source:MGI Symbol;Acc:MGI:1924034]|Heterozygous||A|G|53|38.0|Non-synonymous|Cryopreserved
5976195|IGL01020|3|72966838|E->G|||MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||T|C|51|39.0|Non-synonymous|Cryopreserved
5976196|IGL01020|3|142542857|T->A|0.1|Benign|MGI:2444421|Gbp7|guanylate binding protein 7 [Source:MGI Symbol;Acc:MGI:2444421]|Heterozygous||A|G|51|35.0|Non-synonymous|Cryopreserved
5976197|IGL01020|4|117166904|F->I|1.0|Probably damaging|MGI:1921054|Kif2c|kinesin family member 2C [Source:MGI Symbol;Acc:MGI:1921054]|Heterozygous||A|T|51|35.0|Non-synonymous|Cryopreserved
5976198|IGL01020|12|104008586|N->Y|1.0|Probably damaging|MGI:1919157|Serpina9|serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 [Source:MGI Symbol;Acc:MGI:1919157]|Heterozygous||T|A|50|35.0|Non-synonymous|Cryopreserved
5976199|IGL01020|17|46539023|E->G|1.0|Probably damaging|MGI:1925559|Cul9|cullin 9 [Source:MGI Symbol;Acc:MGI:1925559]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis.|T|C|49|38.0|Non-synonymous|Cryopreserved
5976200|IGL01020|9|95862783|V->A|1.0|Probably damaging|MGI:108028|Atr|ataxia telangiectasia and Rad3 related [Source:MGI Symbol;Acc:MGI:108028]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence.|T|C|45|40.0|Non-synonymous|Cryopreserved
5976201|IGL01020|19|6493443|V->I|0.02|Benign|MGI:1096362|Nrxn2|neurexin II [Source:MGI Symbol;Acc:MGI:1096362]|Heterozygous|Mice homozygous for a knock-out allele are generally non-viable; surviving homozygotes show a 30-40% decrease in body weight and their inhibitory postsynaptic currents (IPSCs) are decreased in cortical slice cultures.|G|A|44|37.0|Non-synonymous|Cryopreserved
5976202|IGL01020|7|139254855|E->Stop||N/A|MGI:2142008|Pwwp2b|PWWP domain containing 2B [Source:MGI Symbol;Acc:MGI:2142008]|Heterozygous||G|T|44|38.5|Non-synonymous|Cryopreserved
5976203|IGL01020|8|71352000|R->K||Benign|MGI:106624|Myo9b|myosin IXb [Source:MGI Symbol;Acc:MGI:106624]|Heterozygous|Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis.|G|A|44|35.0|Non-synonymous|Cryopreserved
5976204|IGL01020|9|32257361|H->R||Benign|MGI:2450166|Arhgap32|Rho GTPase activating protein 32 [Source:MGI Symbol;Acc:MGI:2450166]|Heterozygous|Mice homozygous for a null mutation are fertile but display abnormal neurite growth.|A|G|42|38.0|Non-synonymous|Cryopreserved
5976205|IGL01020|10|4369702|I->T|0.95|Possibly damaging|MGI:2685949|Zbtb2|zinc finger and BTB domain containing 2 [Source:MGI Symbol;Acc:MGI:2685949]|Heterozygous||A|G|39|36.0|Non-synonymous|Cryopreserved
5976206|IGL01020|7|17208732|S->R|0.15|Benign|MGI:1891361|Psg29|pregnancy-specific glycoprotein 29 [Source:MGI Symbol;Acc:MGI:1891361]|Heterozygous||T|A|38|37.0|Non-synonymous|Cryopreserved
5976207|IGL01020|2|121925722|V->I|0.04|Benign|MGI:2443129|Casc4|cancer susceptibility candidate 4 [Source:MGI Symbol;Acc:MGI:2443129]|Heterozygous||G|A|35|39.0|Non-synonymous|Cryopreserved
5976208|IGL01020|15|100471759|M->T|0.5|Possibly damaging|MGI:1915864|Letmd1|LETM1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1915864]|Heterozygous||T|C|31|35.0|Non-synonymous|Cryopreserved
5976209|IGL01020|8|11782540|S->N|0.67|Possibly damaging|MGI:1860493|Arhgef7|Rho guanine nucleotide exchange factor (GEF7) [Source:MGI Symbol;Acc:MGI:1860493]|Heterozygous||G|A|31|41.0|Non-synonymous|Cryopreserved
5976210|IGL01020|2|31914656|V->A||Benign|MGI:1344394|Lamc3|laminin gamma 3 [Source:MGI Symbol;Acc:MGI:1344394]|Heterozygous||T|C|25|36.0|Non-synonymous|Cryopreserved
5976211|IGL01020|11|101984644|N->K|0.02|Benign|MGI:1919599|Dusp3|dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related) [Source:MGI Symbol;Acc:MGI:1919599]|Heterozygous||G|T|23|35.0|Non-synonymous|Cryopreserved
5976212|IGL01020|2|150473047|N->S|0.97|Probably damaging|MGI:3652219|Zfp345|zinc finger protein 345 [Source:MGI Symbol;Acc:MGI:3652219]|Heterozygous||T|C|23|39.0|Non-synonymous|Cryopreserved
5976213|IGL01020|3|108403270|L->M|0.99|Probably damaging|MGI:1858235|Celsr2|cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858235]|Heterozygous|Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.|G|T|14|38.0|Non-synonymous|Cryopreserved
5976214|IGL01020|15|85375422|Disrupted splicing|||MGI:1859293|Atxn10|ataxin 10 [Source:MGI Symbol;Acc:MGI:1859293]|Heterozygous||A|G|117|39.0|Splice|Cryopreserved
5976215|IGL01020|1|59107453|Disrupted splicing|||MGI:2138365|Tmem237|transmembrane protein 237 [Source:MGI Symbol;Acc:MGI:2138365]|Heterozygous||C|A|114|40.0|Splice|Cryopreserved
5976216|IGL01020|7|112315076|Disrupted splicing|||MGI:2444947|Mical2|microtubule associated monoxygenase, calponin and LIM domain containing 2 [Source:MGI Symbol;Acc:MGI:2444947]|Heterozygous||T|A|105|37.0|Splice|Cryopreserved
5976217|IGL01020|1|138120173|Disrupted splicing|||MGI:97810|Ptprc|protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]|Heterozygous|Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.|T|C|71|39.0|Splice|Cryopreserved
5976218|IGL01020|1|177130967|Disrupted splicing|||MGI:1345147|Akt3|thymoma viral proto-oncogene 3 [Source:MGI Symbol;Acc:MGI:1345147]|Heterozygous|Homozygous null mice exhibit a 20% decrease in brain size and have smaller and fewer cells in the brain. Mice heterozygous for an ENU-induced mutation exhibit increased seizures (sporadic and induced) and increased brain weight and size.|T|G|25|37.0|Splice|Cryopreserved
5976219|IGL01020|19|40569181|Disrupted splicing|||MGI:1888908|Aldh18a1|aldehyde dehydrogenase 18 family, member A1 [Source:MGI Symbol;Acc:MGI:1888908]|Heterozygous||C|T|19|38.0|Splice|Cryopreserved
5976220|IGL01020|1|68298449|Disrupted splicing|||MGI:104771|Erbb4|v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:MGI Symbol;Acc:MGI:104771]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects.|A|T|15|39.0|Splice|Cryopreserved
5976221|IGL01020|1|136154094|Disrupted splicing|||MGI:109234|Kif21b|kinesin family member 21B [Source:MGI Symbol;Acc:MGI:109234]|Heterozygous||G|T|12|34.0|Splice|Cryopreserved
5976222|IGL01020|19|5493681|Disrupted splicing|||MGI:101757|Cfl1|cofilin 1, non-muscle [Source:MGI Symbol;Acc:MGI:101757]|Heterozygous|Homozygous null mice display embryonic lethality with impaired neural crest cell migration, an open neural tube, and abnormal somite and eye development.|C|T|10|35.5|Splice|Cryopreserved
5976223|IGL01021|13|32127030|I->V|0.82|Possibly damaging|MGI:1891112|Gmds|GDP-mannose 4, 6-dehydratase [Source:MGI Symbol;Acc:MGI:1891112]|Heterozygous||T|C|231|39.0|Non-synonymous|Cryopreserved
5976224|IGL01021|14|4895222|V->L|||MGI:3781456|Gm3278|predicted gene 3278 [Source:MGI Symbol;Acc:MGI:3781456]|Heterozygous||G|T|204|38.0|Non-synonymous|Cryopreserved
5976225|IGL01021|12|88329272|G->R|||MGI:3646909|Gm10264|predicted gene 10264 [Source:MGI Symbol;Acc:MGI:3646909]|Heterozygous||G|A|171|39.0|Non-synonymous|Cryopreserved
5976226|IGL01021|17|22618904|T->I|||MGI:3644292|Vmn2r112|vomeronasal 2, receptor 112 [Source:MGI Symbol;Acc:MGI:3644292]|Heterozygous||C|T|167|39.0|Non-synonymous|Cryopreserved
5976227|IGL01021|7|141637162|I->F|||MGI:2663233|Muc6|mucin 6, gastric [Source:MGI Symbol;Acc:MGI:2663233]|Heterozygous||T|A|165|38.0|Non-synonymous|Cryopreserved
5976228|IGL01021|4|74074120|I->V|0.97|Probably damaging|MGI:2442466|Frmd3|FERM domain containing 3 [Source:MGI Symbol;Acc:MGI:2442466]|Heterozygous||A|G|156|39.0|Non-synonymous|Cryopreserved
5976229|IGL01021|14|68642114|S->P||Benign|MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||A|G|143|37.0|Non-synonymous|Cryopreserved
5976230|IGL01021|10|121551272|E->G|0.53|Possibly damaging|MGI:1929658|Tbk1|TANK-binding kinase 1 [Source:MGI Symbol;Acc:MGI:1929658]|Heterozygous|Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS.|T|C|138|37.0|Non-synonymous|Cryopreserved
5976231|IGL01021|3|155091492|E->V|||MGI:1922790|Fpgt|fucose-1-phosphate guanylyltransferase [Source:MGI Symbol;Acc:MGI:1922790]|Heterozygous||T|A|111|35.0|Non-synonymous|Cryopreserved
5976232|IGL01021|6|132847406|A->T||Benign|MGI:2681264|Tas2r123|taste receptor, type 2, member 123 [Source:MGI Symbol;Acc:MGI:2681264]|Heterozygous||G|A|100|39.0|Non-synonymous|Cryopreserved
5976233|IGL01021|12|54003560|S->P|||MGI:1351610|Npas3|neuronal PAS domain protein 3 [Source:MGI Symbol;Acc:MGI:1351610]|Heterozygous|Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.|T|C|87|39.0|Non-synonymous|Cryopreserved
5976234|IGL01021|15|68170166|I->V|0.4|Benign|MGI:2681865|Zfat|zinc finger and AT hook domain containing [Source:MGI Symbol;Acc:MGI:2681865]|Heterozygous||T|C|86|40.0|Non-synonymous|Cryopreserved
5976235|IGL01021|16|96315723|H->Q|0.98|Probably damaging|MGI:2136878|B3galt5|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 [Source:MGI Symbol;Acc:MGI:2136878]|Heterozygous|Homozygous mice for a targeted mutation appear normal.|C|A|81|35.0|Non-synonymous|Cryopreserved
5976236|IGL01021|1|22486620|W->R|||MGI:2152971|Rims1|regulating synaptic membrane exocytosis 1 [Source:MGI Symbol;Acc:MGI:2152971]|Heterozygous|Mice homozygous for disruptions in this gene display defects in maternal care and abnormalities in synaptic transmission in the central nervous system.|A|T|54|36.5|Non-synonymous|Cryopreserved
5976237|IGL01021|2|33453759|T->A|||MGI:1919084|Zbtb43|zinc finger and BTB domain containing 43 [Source:MGI Symbol;Acc:MGI:1919084]|Heterozygous||T|C|53|39.0|Non-synonymous|Cryopreserved
5976238|IGL01021|2|6424387|M->K|1.0|Probably damaging|MGI:2138893|Usp6nl|USP6 N-terminal like [Source:MGI Symbol;Acc:MGI:2138893]|Heterozygous||T|A|43|37.0|Non-synonymous|Cryopreserved
5976239|IGL01021|6|69304881|E->G|||MGI:2686265|Igkv4-68|immunoglobulin kappa variable 4-68 [Source:MGI Symbol;Acc:MGI:2686265]|Heterozygous||T|C|42|33.0|Non-synonymous|Cryopreserved
5976240|IGL01021|10|61225373|S->Y|1.0|Probably damaging|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||G|T|41|35.0|Non-synonymous|Cryopreserved
5976241|IGL01021|2|90777669|M->V|0.07|Benign|MGI:1860513|Fnbp4|formin binding protein 4 [Source:MGI Symbol;Acc:MGI:1860513]|Heterozygous||A|G|40|37.0|Non-synonymous|Cryopreserved
5976242|IGL01021|13|114997000|Y->F|0.86|Possibly damaging|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|T|A|33|37.0|Non-synonymous|Cryopreserved
5976243|IGL01021|13|54740369|S->C|1.0|Probably damaging|MGI:1349455|Gprin1|G protein-regulated inducer of neurite outgrowth 1 [Source:MGI Symbol;Acc:MGI:1349455]|Heterozygous||T|A|32|35.0|Non-synonymous|Cryopreserved
5976244|IGL01021|19|34938260|V->A|0.97|Probably damaging|MGI:2444576|Kif20b|kinesin family member 20B [Source:MGI Symbol;Acc:MGI:2444576]|Heterozygous||T|C|32|39.0|Non-synonymous|Cryopreserved
5976245|IGL01021|2|24971923|H->Q|0.99|Probably damaging|MGI:1914478|Wdr85|WD repeat domain 85 [Source:MGI Symbol;Acc:MGI:1914478]|Heterozygous||T|G|32|40.0|Non-synonymous|Cryopreserved
5976246|IGL01021|11|98762928|D->G||Benign|MGI:98742|Thra|thyroid hormone receptor alpha [Source:MGI Symbol;Acc:MGI:98742]|Heterozygous|Homozygotes for a targeted null mutation show reduced growth, hypothermia, and intestinal immaturity. Other targeted mutations affect thyroid hormone status, adiposity, growth, heart rate, thermoregulation, fertility, and survival.|A|G|28|35.0|Non-synonymous|Cryopreserved
5976247|IGL01021|8|71713523|Y->Stop||N/A|MGI:1921265|Fcho1|FCH domain only 1 [Source:MGI Symbol;Acc:MGI:1921265]|Heterozygous||A|T|26|35.0|Non-synonymous|Cryopreserved
5976248|IGL01021|1|43934187|Y->Stop||N/A|MGI:102724|Tpp2|tripeptidyl peptidase II [Source:MGI Symbol;Acc:MGI:102724]|Heterozygous|Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence.|T|A|20|37.0|Non-synonymous|Cryopreserved
5976249|IGL01021|7|121918036|D->Y|1.0|Probably damaging|MGI:104696|Scnn1b|sodium channel, nonvoltage-gated 1 beta [Source:MGI Symbol;Acc:MGI:104696]|Heterozygous|Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype.|G|T|16|35.0|Non-synonymous|Cryopreserved
5976250|IGL01021|13|55666332|Y->Stop||N/A|MGI:1920895|Ddx46|DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 [Source:MGI Symbol;Acc:MGI:1920895]|Heterozygous||T|A|15|39.0|Non-synonymous|Cryopreserved
5976251|IGL01021|7|25338374|W->R|0.7|Possibly damaging|MGI:2446294|Megf8|multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]|Heterozygous||T|A|15|33.0|Non-synonymous|Cryopreserved
5976252|IGL01021|8|109537993|R->L|0.44|Possibly damaging|MGI:1930136|Pmfbp1|polyamine modulated factor 1 binding protein 1 [Source:MGI Symbol;Acc:MGI:1930136]|Heterozygous||G|T|15|35.0|Non-synonymous|Cryopreserved
5976253|IGL01021|7|125318676|V->A||Unknown|MGI:1922457|4930533l02rik|RIKEN cDNA 4930533L02 gene [Source:MGI Symbol;Acc:MGI:1922457]|Heterozygous||T|C|11|33.0|Non-synonymous|Cryopreserved
5976254|IGL01021|10|81635161|Disrupted splicing|||MGI:1890394|Ankrd24|ankyrin repeat domain 24 [Source:MGI Symbol;Acc:MGI:1890394]|Heterozygous||A|G|89|36.0|Splice|Cryopreserved
5976255|IGL01021|4|140796334|Disrupted splicing|||MGI:1338891|Padi3|peptidyl arginine deiminase, type III [Source:MGI Symbol;Acc:MGI:1338891]|Heterozygous||T|C|17|38.0|Splice|Cryopreserved
5976256|IGL01021|5|41838173|Disrupted splicing|||MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|G|16|37.5|Splice|Cryopreserved
5976257|IGL01022|10|78955354|I->F|0.98|Probably damaging|MGI:107174|Olfr8|olfactory receptor 8 [Source:MGI Symbol;Acc:MGI:107174]|Heterozygous||A|T|232|39.0|Non-synonymous|Cryopreserved
5976258|IGL01022|15|99402122|V->M|0.04|Benign|MGI:99682|Tmbim6|transmembrane BAX inhibitor motif containing 6 [Source:MGI Symbol;Acc:MGI:99682]|Heterozygous|Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics.|G|A|202|36.0|Non-synonymous|Cryopreserved
5976259|IGL01022|3|141871338|C->S|0.86|Possibly damaging|MGI:107191|Bmpr1b|bone morphogenetic protein receptor, type 1B [Source:MGI Symbol;Acc:MGI:107191]|Heterozygous|Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities.|A|T|202|39.0|Non-synonymous|Cryopreserved
5976260|IGL01022|11|83035527|V->I|||MGI:3512288|Slfn10-ps|schlafen 10, pseudogene [Source:MGI Symbol;Acc:MGI:3512288]|Heterozygous||C|T|173|39.0|Non-synonymous|Cryopreserved
5976261|IGL01022|5|114336300|I->F|0.76|Possibly damaging|MGI:1914674|Myo1h|myosin 1H [Source:MGI Symbol;Acc:MGI:1914674]|Heterozygous||A|T|173|38.0|Non-synonymous|Cryopreserved
5976262|IGL01022|7|103097870|L->R|0.99|Probably damaging|MGI:3030419|Olfr585|olfactory receptor 585 [Source:MGI Symbol;Acc:MGI:3030419]|Heterozygous||T|G|121|37.0|Non-synonymous|Cryopreserved
5976263|IGL01022|5|41794309|S->T|0.99|Probably damaging|MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|T|116|35.0|Non-synonymous|Cryopreserved
5976264|IGL01022|17|35650444|T->I|0.9|Possibly damaging|MGI:3643293|Sfta2|surfactant associated 2 [Source:MGI Symbol;Acc:MGI:3643293]|Heterozygous||C|T|105|37.0|Non-synonymous|Cryopreserved
5976265|IGL01022|5|13473466|T->I|1.0|Probably damaging|MGI:107558|Sema3a|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A [Source:MGI Symbol;Acc:MGI:107558]|Heterozygous|Homozygotes for targeted null mutations exhibit patterning abnormalities of sensory and sympathetic neurons, abnormal embryonic bones and cartilaginous structures, cardiac defects, and high postnatal mortality.|C|T|91|37.0|Non-synonymous|Cryopreserved
5976266|IGL01022|8|31738487|D->V|||MGI:2664089, MGI:3648041, MGI:3530896, MGI:1347109|Ac127374.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QP10]|Heterozygous||T|A|90|37.0|Non-synonymous|Cryopreserved
5976267|IGL01022|4|9601344|N->K||Benign|MGI:1914186|Asph|aspartate-beta-hydroxylase [Source:MGI Symbol;Acc:MGI:1914186]|Heterozygous|Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility.|A|T|88|40.0|Non-synonymous|Cryopreserved
5976268|IGL01022|17|34565697|C->Y|0.03|Benign|MGI:107471|Notch4|notch 4 [Source:MGI Symbol;Acc:MGI:107471]|Heterozygous|Homozygotes develop normally and viable with normal fertility. Animals heterozygous for Notch1 deletion and lacking Notch4 are viable but exhibit postnatal growth retardation (80% of control weight at 2-3 weeks).|G|A|78|35.0|Non-synonymous|Cryopreserved
5976269|IGL01022|11|70671482|R->Stop||N/A|MGI:2135957|Camta2|calmodulin binding transcription activator 2 [Source:MGI Symbol;Acc:MGI:2135957]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli.|G|A|69|37.0|Non-synonymous|Cryopreserved
5976270|IGL01022|11|53186741|N->S|0.01|Benign|MGI:2443199|Fstl4|follistatin-like 4 [Source:MGI Symbol;Acc:MGI:2443199]|Heterozygous|Homozygous null mice were born at expected Mendelian ratio and healthy, fertile, apparently normal with normal retinal laminar structure.|A|G|64|35.0|Non-synonymous|Cryopreserved
5976271|IGL01022|1|128300859|I->L|||MGI:104576|Lct|lactase [Source:MGI Symbol;Acc:MGI:104576]|Heterozygous||T|A|57|37.0|Non-synonymous|Cryopreserved
5976272|IGL01022|15|86301555|D->N|1.0|Probably damaging|MGI:1289265|Tbc1d22a|TBC1 domain family, member 22a [Source:MGI Symbol;Acc:MGI:1289265]|Heterozygous||G|A|50|37.0|Non-synonymous|Cryopreserved
5976273|IGL01022|8|19157989|Q->H|0.25|Benign|MGI:1925378|Spag11a|sperm associated antigen 11A [Source:MGI Symbol;Acc:MGI:1925378]|Heterozygous||A|T|46|40.0|Non-synonymous|Cryopreserved
5976274|IGL01022|14|52236993|T->A||Benign|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|T|C|44|35.0|Non-synonymous|Cryopreserved
5976275|IGL01022|11|100349548|L->P|0.92|Possibly damaging|MGI:1261831|Hap1|huntingtin-associated protein 1 [Source:MGI Symbol;Acc:MGI:1261831]|Heterozygous|Homozygous mutant mice are viable at birth but show neurodegeneration in areas of the brain including the regions of the hypothalamus that control feeding behavior. Mutant mice exhibit decreased feeding behavior and die between 2 and 15 days after birth.|A|G|36|35.5|Non-synonymous|Cryopreserved
5976276|IGL01022|10|61202942|S->P||Benign|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||A|G|30|38.5|Non-synonymous|Cryopreserved
5976277|IGL01022|2|180616434|I->F|0.9|Possibly damaging|MGI:894686|Col9a3|collagen, type IX, alpha 3 [Source:MGI Symbol;Acc:MGI:894686]|Heterozygous||A|T|19|35.0|Non-synonymous|Cryopreserved
5976278|IGL01022|9|73517328|D->G|1.0|Probably damaging|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|T|C|19|40.0|Non-synonymous|Cryopreserved
5976279|IGL01022|7|56324756|N->K|1.0|Probably damaging|MGI:97454|Oca2|oculocutaneous albinism II [Source:MGI Symbol;Acc:MGI:97454]|Heterozygous|Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality.|T|A|17|39.0|Non-synonymous|Cryopreserved
5976280|IGL01022|3|95763754|R->Stop||N/A|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||T|A|16|35.0|Non-synonymous|Cryopreserved
5976281|IGL01022|1|10174076|F->L|||MGI:2442988|Arfgef1|ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2442988]|Heterozygous||G|T|14|39.5|Non-synonymous|Cryopreserved
5976282|IGL01022|10|79983974|V->A|0.12|Benign|MGI:2177957|Orf61|open reading frame 61 [Source:MGI Symbol;Acc:MGI:2177957]|Heterozygous||A|G|10|32.0|Non-synonymous|Cryopreserved
5976283|IGL01022|2|98667231|Disrupted splicing|||MGI:3641657|Gm10800|predicted gene 10800 [Source:MGI Symbol;Acc:MGI:3641657]|Heterozygous||T|A|386|39.0|Splice|Cryopreserved
5976284|IGL01022|3|28625228|Disrupted splicing|||MGI:1916264|Tnik|TRAF2 and NCK interacting kinase [Source:MGI Symbol;Acc:MGI:1916264]|Heterozygous||T|C|98|38.0|Splice|Cryopreserved
5976285|IGL01022|16|36951126|Disrupted splicing|||MGI:104568|Hcls1|hematopoietic cell specific Lyn substrate 1 [Source:MGI Symbol;Acc:MGI:104568]|Heterozygous|Mice homozygous for disruptions in this gene show impaired antibody production to T-independent antigen and impaired proliferative responses of splenic B and T cells after cross-linking of antigen receptors.|C|A|12|36.5|Splice|Cryopreserved
5976286|IGL01022|5|25302701|Disrupted splicing|||MGI:2444959|Mll3|myeloid/lymphoid or mixed-lineage leukemia 3 [Source:MGI Symbol;Acc:MGI:2444959]|Heterozygous|Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts.|A|G|11|37.0|Splice|Cryopreserved
5976287|IGL01023|6|141754429|S->P|0.03|Benign|MGI:3643685|Gm5724|predicted gene 5724 [Source:MGI Symbol;Acc:MGI:3643685]|Heterozygous||A|G|148|39.0|Non-synonymous|Cryopreserved
5976288|IGL01023|9|121849683|G->D|0.89|Possibly damaging|MGI:1930666|Higd1a|HIG1 domain family, member 1A [Source:MGI Symbol;Acc:MGI:1930666]|Heterozygous||C|T|142|40.0|Non-synonymous|Cryopreserved
5976289|IGL01023|3|103903374|I->M||Benign|MGI:107170|Ptpn22|protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [Source:MGI Symbol;Acc:MGI:107170]|Heterozygous|Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels.|A|G|140|38.0|Non-synonymous|Cryopreserved
5976290|IGL01023|4|138240629|V->A|0.99|Probably damaging|MGI:109369|Hp1bp3|heterochromatin protein 1, binding protein 3 [Source:MGI Symbol;Acc:MGI:109369]|Heterozygous||T|C|138|37.0|Non-synonymous|Cryopreserved
5976291|IGL01023|10|77070975|V->M|0.19|Benign|MGI:88451|Col18a1|collagen, type XVIII, alpha 1 [Source:MGI Symbol;Acc:MGI:88451]|Heterozygous|Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.|C|T|119|36.0|Non-synonymous|Cryopreserved
5976292|IGL01023|2|128629729|L->P|0.98|Probably damaging|MGI:103097|Anapc1|anaphase promoting complex subunit 1 [Source:MGI Symbol;Acc:MGI:103097]|Heterozygous||A|G|103|39.0|Non-synonymous|Cryopreserved
5976293|IGL01023|5|37276313|D->V|0.97|Probably damaging|MGI:107793|Crmp1|collapsin response mediator protein 1 [Source:MGI Symbol;Acc:MGI:107793]|Heterozygous|Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning.|A|T|100|37.0|Non-synonymous|Cryopreserved
5976294|IGL01023|6|116043027|L->P|0.88|Possibly damaging|MGI:2442900|Tmcc1|transmembrane and coiled coil domains 1 [Source:MGI Symbol;Acc:MGI:2442368]|Heterozygous||A|G|100|37.5|Non-synonymous|Cryopreserved
5976295|IGL01023|8|72495874|F->L|0.88|Possibly damaging|MGI:1917875|Med26|mediator complex subunit 26 [Source:MGI Symbol;Acc:MGI:1917875]|Heterozygous||A|T|100|37.5|Non-synonymous|Cryopreserved
5976296|IGL01023|16|4611650|R->C|1.0|Probably damaging|MGI:1932535|Glis2|GLIS family zinc finger 2 [Source:MGI Symbol;Acc:MGI:1932535]|Heterozygous|Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis.|C|T|88|36.0|Non-synonymous|Cryopreserved
5976297|IGL01023|11|3863387|I->V||Benign|MGI:1921559|Osbp2|oxysterol binding protein 2 [Source:MGI Symbol;Acc:MGI:1921559]|Heterozygous||T|C|85|35.0|Non-synonymous|Cryopreserved
5976298|IGL01023|6|132957801|L->Q|1.0|Probably damaging|MGI:2681280|Tas2r131|taste receptor, type 2, member 131 [Source:MGI Symbol;Acc:MGI:2681280]|Heterozygous||A|T|83|40.0|Non-synonymous|Cryopreserved
5976299|IGL01023|5|36967917|C->Stop||N/A|MGI:1328355|Wfs1|Wolfram syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1328355]|Heterozygous|Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance. Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.|A|T|81|37.0|Non-synonymous|Cryopreserved
5976300|IGL01023|7|131326174|C->Stop||N/A|MGI:1916568|1700007k09rik|RIKEN cDNA 1700007K09 gene [Source:MGI Symbol;Acc:MGI:1916568]|Heterozygous||A|T|78|37.0|Non-synonymous|Cryopreserved
5976301|IGL01023|5|18003828|S->P|1.0|Probably damaging|MGI:3588268|Gnat3|guanine nucleotide binding protein, alpha transducing 3 [Source:MGI Symbol;Acc:MGI:3588268]|Heterozygous||T|C|72|39.0|Non-synonymous|Cryopreserved
5976302|IGL01023|9|110547513|S->Stop||N/A|MGI:1918177|Setd2|SET domain containing 2 [Source:MGI Symbol;Acc:MGI:1918177]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5.|C|A|52|40.0|Non-synonymous|Cryopreserved
5976303|IGL01023|7|27519419|I->K|0.02|Benign|MGI:108176|Prx|periaxin [Source:MGI Symbol;Acc:MGI:108176]|Heterozygous|Mice homozygous for disruptions in this gene display locomotor problems as well as difficulty eating and breathing. Demyelination of peripheral nerves develops with age.|T|A|49|37.0|Non-synonymous|Cryopreserved
5976304|IGL01023|13|106897259|F->L|0.11|Benign|MGI:2442377|Ipo11|importin 11 [Source:MGI Symbol;Acc:MGI:2442377]|Heterozygous||A|T|48|40.0|Non-synonymous|Cryopreserved
5976305|IGL01023|3|95140415|S->P|1.0|Probably damaging|MGI:1917019|Tnfaip8l2|tumor necrosis factor, alpha-induced protein 8-like 2 [Source:MGI Symbol;Acc:MGI:1917019]|Heterozygous|About 50% of mice homozygous for a null allele die prematurely of a chronic disease characterized by weight loss, splenomegaly, leukocytosis, and multiorgan inflammation; mutants are hypersensitive to septic shock while cells are hyperresponsive to Toll-like receptor and T cell receptor activation.|A|G|46|36.5|Non-synonymous|Cryopreserved
5976306|IGL01023|8|71661825|E->K||Unknown|MGI:3051532|Unc13a|unc-13 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:3051532]|Heterozygous||C|T|46|37.5|Non-synonymous|Cryopreserved
5976307|IGL01023|2|87149825|T->S|1.0|Probably damaging|MGI:3030945|Olfr1111|olfactory receptor 1111 [Source:MGI Symbol;Acc:MGI:3030945]|Heterozygous||T|A|41|38.0|Non-synonymous|Cryopreserved
5976308|IGL01023|17|55988245|Y->C|1.0|Probably damaging|MGI:1934858|Fsd1|fibronectin type 3 and SPRY domain-containing protein [Source:MGI Symbol;Acc:MGI:1934858]|Heterozygous||A|G|35|35.0|Non-synonymous|Cryopreserved
5976309|IGL01023|12|98231422|V->I|0.01|Benign|MGI:95636|Galc|galactosylceramidase [Source:MGI Symbol;Acc:MGI:95636]|Heterozygous|Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age.|C|T|33|37.0|Non-synonymous|Cryopreserved
5976310|IGL01023|2|174092409|H->L|1.0|Probably damaging|MGI:1923396|Stx16|syntaxin 16 [Source:MGI Symbol;Acc:MGI:1923396]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype.|A|T|33|36.0|Non-synonymous|Cryopreserved
5976311|IGL01023|8|61942514|I->F|0.92|Possibly damaging|MGI:2384570|Ddx60|DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 [Source:MGI Symbol;Acc:MGI:2384570]|Heterozygous||A|T|31|39.0|Non-synonymous|Cryopreserved
5976312|IGL01023|5|104520500|W->R|1.0|Probably damaging|MGI:3040669|Bc005561|cDNA sequence BC005561 [Source:MGI Symbol;Acc:MGI:3040669]|Heterozygous||T|A|29|38.0|Non-synonymous|Cryopreserved
5976313|IGL01023|15|84699655|V->A|0.13|Benign|MGI:1924714|Prr5|proline rich 5 (renal) [Source:MGI Symbol;Acc:MGI:1924714]|Heterozygous||T|C|26|34.0|Non-synonymous|Cryopreserved
5976314|IGL01023|7|6375588|G->D|0.99|Probably damaging|MGI:107783|Zfp78|zinc finger protein 78 [Source:MGI Symbol;Acc:MGI:107783]|Heterozygous||G|A|22|38.5|Non-synonymous|Cryopreserved
5976315|IGL01023|4|133422143|E->G||Benign|MGI:102462|Slc9a1|solute carrier family 9 (sodium/hydrogen exchanger), member 1 [Source:MGI Symbol;Acc:MGI:102462]|Heterozygous|Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands.|A|G|21|36.0|Non-synonymous|Cryopreserved
5976316|IGL01023|9|37429551|T->A|0.33|Benign|MGI:1343102|Robo3|roundabout homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1343102]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal commissural axon growth, and fragile floor plates.|T|C|17|35.0|Non-synonymous|Cryopreserved
5976317|IGL01023|2|177569239|C->S|0.99|Probably damaging|MGI:3649838|Gm14406|predicted gene 14406 [Source:MGI Symbol;Acc:MGI:3649838]|Heterozygous||A|T|15|40.0|Non-synonymous|Cryopreserved
5976318|IGL01023|4|119209314|M->I|0.02|Benign|MGI:1922430|4930538k18rik|RIKEN cDNA 4930538K18 gene [Source:MGI Symbol;Acc:MGI:1922430]|Heterozygous||C|A|13|37.0|Non-synonymous|Cryopreserved
5976319|IGL01023|7|104382972|Disrupted splicing|||MGI:4821257|Trim30c|tripartite motif-containing 30C [Source:MGI Symbol;Acc:MGI:4821257]|Heterozygous||A|G|94|38.0|Splice|Cryopreserved
5976320|IGL01024|9|40092733|S->P|1.0|Probably damaging|MGI:3030817|Olfr983|olfactory receptor 983 [Source:MGI Symbol;Acc:MGI:3030817]|Heterozygous||A|G|458|37.0|Non-synonymous|Cryopreserved
5976321|IGL01024|1|182747423|E->G|0.96|Probably damaging|MGI:3618292|4922505e12rik|RIKEN cDNA 4922505E12 gene [Source:MGI Symbol;Acc:MGI:3618292]|Heterozygous||T|C|307|37.0|Non-synonymous|Cryopreserved
5976322|IGL01024|19|36606393|F->L|1.0|Probably damaging|MGI:2442663|Hectd2|HECT domain containing 2 [Source:MGI Symbol;Acc:MGI:2442663]|Heterozygous||T|A|193|39.0|Non-synonymous|Cryopreserved
5976323|IGL01024|6|123638053|F->L|0.19|Benign|MGI:3647952|Vmn2r22|vomeronasal 2, receptor 22 [Source:MGI Symbol;Acc:MGI:3647952]|Heterozygous||A|G|186|39.0|Non-synonymous|Cryopreserved
5976324|IGL01024|3|99316246|D->V|0.65|Possibly damaging|MGI:1277234|Tbx15|T-box 15 [Source:MGI Symbol;Acc:MGI:1277234]|Heterozygous|Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning.|A|T|175|36.0|Non-synonymous|Cryopreserved
5976325|IGL01024|11|74206655|L->Q|1.0|Probably damaging|MGI:1333770|Olfr43|olfactory receptor 43 [Source:MGI Symbol;Acc:MGI:1333770]|Heterozygous||A|T|150|38.0|Non-synonymous|Cryopreserved
5976326|IGL01024|5|53067630|V->D|0.22|Benign|MGI:1342284|Slc34a2|solute carrier family 34 (sodium phosphate), member 2 [Source:MGI Symbol;Acc:MGI:1342284]|Heterozygous|Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling.|T|A|147|37.0|Non-synonymous|Cryopreserved
5976327|IGL01024|13|58288201|E->D|0.9|Possibly damaging|MGI:1922300|Kif27|kinesin family member 27 [Source:MGI Symbol;Acc:MGI:1922300]|Heterozygous||T|A|134|40.0|Non-synonymous|Cryopreserved
5976328|IGL01024|2|112042371|F->L||Benign|MGI:3031146|Olfr1312|olfactory receptor 1312 [Source:MGI Symbol;Acc:MGI:3031146]|Heterozygous||A|T|129|39.0|Non-synonymous|Cryopreserved
5976329|IGL01024|14|51049864|I->V|0.03|Benign|MGI:3528583|Rnase11|ribonuclease, RNase A family, 11 (non-active) [Source:MGI Symbol;Acc:MGI:3528583]|Heterozygous||T|C|123|39.0|Non-synonymous|Cryopreserved
5976330|IGL01024|9|14782803|F->L|0.78|Possibly damaging|MGI:1930842|Ankrd49|ankyrin repeat domain 49 [Source:MGI Symbol;Acc:MGI:1930842]|Heterozygous||A|G|112|37.0|Non-synonymous|Cryopreserved
5976331|IGL01024|4|144208475|I->K|0.33|Benign|MGI:2140708|C87977|expressed sequence C87977 [Source:MGI Symbol;Acc:MGI:2140708]|Heterozygous||A|T|97|37.0|Non-synonymous|Cryopreserved
5976332|IGL01024|12|69305836|N->K|0.16|Benign|MGI:1916804|Klhdc2|kelch domain containing 2 [Source:MGI Symbol;Acc:MGI:1916804]|Heterozygous||T|A|93|39.0|Non-synonymous|Cryopreserved
5976333|IGL01024|15|101736674|A->T|0.99|Probably damaging|MGI:1861586|Krt71|keratin 71 [Source:MGI Symbol;Acc:MGI:1861586]|Heterozygous|A number of independent spontaneous mutations in this gene all show a similar dominant phenotype, with curved vibrissae and wavy hair. ENU mutants have also been characterized for abnormalities of keratinization in the inner root sheath of the hair follicle, including one recessive allele.|C|T|81|34.0|Non-synonymous|Cryopreserved
5976334|IGL01024|12|29987099|N->T|0.82|Possibly damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||A|C|76|37.0|Non-synonymous|Cryopreserved
5976335|IGL01024|4|68762494|W->R|0.9|Possibly damaging|MGI:1928478|Dbc1|deleted in bladder cancer 1 (human) [Source:MGI Symbol;Acc:MGI:1928478]|Heterozygous||A|T|74|39.0|Non-synonymous|Cryopreserved
5976336|IGL01024|13|91781211|Q->Stop||N/A|MGI:1921406|Acot12|acyl-CoA thioesterase 12 [Source:MGI Symbol;Acc:MGI:1921406]|Heterozygous||C|T|70|37.5|Non-synonymous|Cryopreserved
5976337|IGL01024|5|104521746|V->G|0.03|Benign|MGI:3040669|Bc005561|cDNA sequence BC005561 [Source:MGI Symbol;Acc:MGI:3040669]|Heterozygous||T|G|61|38.0|Non-synonymous|Cryopreserved
5976338|IGL01024|13|70795484|V->A||Benign|MGI:2429637|Adamts16|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 16 [Source:MGI Symbol;Acc:MGI:2429637]|Heterozygous||A|G|60|38.5|Non-synonymous|Cryopreserved
5976339|IGL01024|16|91655910|T->K|0.97|Probably damaging|MGI:98353|Son|Son DNA binding protein [Source:MGI Symbol;Acc:MGI:98353]|Heterozygous||C|A|55|36.0|Non-synonymous|Cryopreserved
5976340|IGL01024|3|59073341|S->I|1.0|Probably damaging|MGI:2139916|Med12l|mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)-like [Source:MGI Symbol;Acc:MGI:2139916]|Heterozygous||G|T|49|40.0|Non-synonymous|Cryopreserved
5976341|IGL01024|6|40643010|K->R||Benign|MGI:1203495|Mgam|maltase-glucoamylase [Source:MGI Symbol;Acc:MGI:1203495]|Heterozygous|Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.|A|G|49|35.0|Non-synonymous|Cryopreserved
5976342|IGL01024|11|101048439|I->V||Benign|MGI:103286|Atp6v0a1|ATPase, H+ transporting, lysosomal V0 subunit A1 [Source:MGI Symbol;Acc:MGI:103286]|Heterozygous||A|G|48|39.0|Non-synonymous|Cryopreserved
5976343|IGL01024|14|31052260|R->H|||MGI:1923998|Pbrm1|polybromo 1 [Source:MGI Symbol;Acc:MGI:1923998]|Heterozygous|Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.|G|A|48|37.0|Non-synonymous|Cryopreserved
5976344|IGL01024|17|3683015|I->N|0.97|Probably damaging|MGI:2681162|Nox3|NADPH oxidase 3 [Source:MGI Symbol;Acc:MGI:2681162]|Heterozygous||A|T|42|39.0|Non-synonymous|Cryopreserved
5976345|IGL01024|15|44420826|M->L|0.25|Benign|MGI:1914679|Nudcd1|NudC domain containing 1 [Source:MGI Symbol;Acc:MGI:1914679]|Heterozygous||T|A|41|39.0|Non-synonymous|Cryopreserved
5976346|IGL01024|14|118267158|M->V|||MGI:3643023|Gm9376|predicted gene 9376 [Source:MGI Symbol;Acc:MGI:3643023]|Heterozygous||A|G|40|39.0|Non-synonymous|Cryopreserved
5976347|IGL01024|11|110197142|Y->F||Benign|MGI:1923434|Abca6|ATP-binding cassette, sub-family A (ABC1), member 6 [Source:MGI Symbol;Acc:MGI:1923434]|Heterozygous||T|A|36|37.0|Non-synonymous|Cryopreserved
5976348|IGL01024|7|126764774|K->Stop||N/A|MGI:1346859|Mapk3|mitogen-activated protein kinase 3 [Source:MGI Symbol;Acc:MGI:1346859]|Heterozygous|Mice homozygous for a targeted null mutation are hyperactive with impaired T cell maturation and proliferation. Mice homozygous for a knock-out allele on a CD-1 background exhibit normal Mendelian ratios, growth, and no obvious abnormalities.|A|T|33|37.0|Non-synonymous|Cryopreserved
5976349|IGL01024|1|139478124|H->L|0.8|Possibly damaging|MGI:1334448|Aspm|asp (abnormal spindle)-like, microcephaly associated (Drosophila) [Source:MGI Symbol;Acc:MGI:1334448]|Heterozygous||A|T|32|39.0|Non-synonymous|Cryopreserved
5976350|IGL01024|3|79070138|I->V|0.57|Possibly damaging|MGI:2659071|Rapgef2|Rap guanine nucleotide exchange factor (GEF) 2 [Source:MGI Symbol;Acc:MGI:2659071]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E12.5 associated with impaired embryo hematopoeisis.|T|C|29|35.0|Non-synonymous|Cryopreserved
5976351|IGL01024|5|134510212|D->G|1.0|Probably damaging|MGI:1313136|Clip2|CAP-GLY domain containing linker protein 2 [Source:MGI Symbol;Acc:MGI:1313136]|Heterozygous|Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination.|T|C|29|36.0|Non-synonymous|Cryopreserved
5976352|IGL01024|7|126664931|R->Q|0.32|Benign|MGI:1922815|Ccdc101|coiled-coil domain containing 101 [Source:MGI Symbol;Acc:MGI:1922815]|Heterozygous||G|A|27|37.0|Non-synonymous|Cryopreserved
5976353|IGL01024|11|16281874|V->D|0.77|Possibly damaging|MGI:2384826|Vstm2a|V-set and transmembrane domain containing 2A [Source:MGI Symbol;Acc:MGI:2384826]|Heterozygous||T|A|26|37.0|Non-synonymous|Cryopreserved
5976354|IGL01024|3|72911876|L->S|||MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||A|G|26|40.0|Non-synonymous|Cryopreserved
5976355|IGL01024|17|88671291|K->R|0.98|Probably damaging|MGI:1919078|Gtf2a1l|general transcription factor IIA, 1-like [Source:MGI Symbol;Acc:MGI:1919078]|Heterozygous||A|G|24|35.5|Non-synonymous|Cryopreserved
5976356|IGL01024|19|3717040|V->A|0.79|Possibly damaging|MGI:1919306|1810055g02rik|RIKEN cDNA 1810055G02 gene [Source:MGI Symbol;Acc:MGI:1919306]|Heterozygous||T|C|24|37.0|Non-synonymous|Cryopreserved
5976357|IGL01024|3|103760636|N->K|0.38|Benign|MGI:1314873|Hipk1|homeodomain interacting protein kinase 1 [Source:MGI Symbol;Acc:MGI:1314873]|Heterozygous|Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.|G|T|24|40.5|Non-synonymous|Cryopreserved
5976358|IGL01024|2|126603846|V->A|0.2|Benign|MGI:96062|Hdc|histidine decarboxylase [Source:MGI Symbol;Acc:MGI:96062]|Heterozygous||A|G|23|39.0|Non-synonymous|Cryopreserved
5976359|IGL01024|1|138080912|H->R|0.99|Probably damaging|MGI:97810|Ptprc|protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]|Heterozygous|Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.|T|C|22|37.0|Non-synonymous|Cryopreserved
5976360|IGL01024|16|16923769|T->K|0.02|Benign|MGI:1918464|Ppm1f|protein phosphatase 1F (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:1918464]|Heterozygous|Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.|C|A|12|38.5|Non-synonymous|Cryopreserved
5976361|IGL01024|2|127541139|N->S||Benign|MGI:2138997|Prom2|prominin 2 [Source:MGI Symbol;Acc:MGI:2138997]|Heterozygous||T|C|12|37.0|Non-synonymous|Cryopreserved
5976362|IGL01024|9|119070350|Disrupted splicing|||MGI:1201781|Vill|villin-like [Source:MGI Symbol;Acc:MGI:1201781]|Heterozygous||G|A|205|35.0|Splice|Cryopreserved
5976363|IGL01024|10|128548377|Disrupted splicing|||MGI:1915195|Rpl41|ribosomal protein L41 [Source:MGI Symbol;Acc:MGI:1915195]|Heterozygous||A|G|175|35.0|Splice|Cryopreserved
5976364|IGL01024|14|55588436|Disrupted splicing|||MGI:1096365|Psme2|proteasome (prosome, macropain) 28 subunit, beta [Source:MGI Symbol;Acc:MGI:1096365]|Heterozygous|Homozygous disruption of this gene results in impaired cytotoxic T lymphocyte responses and immunoproteasome assembly.|A|G|173|39.0|Splice|Cryopreserved
5976365|IGL01024|5|87080869|Disrupted splicing|||MGI:3576103|Ugt2b36|UDP glucuronosyltransferase 2 family, polypeptide B36 [Source:MGI Symbol;Acc:MGI:3576103]|Heterozygous||C|T|148|39.0|Splice|Cryopreserved
5976366|IGL01024|17|18452328|Disrupted splicing|||MGI:3761354|Vmn2r95|vomeronasal 2, receptor 95 [Source:MGI Symbol;Acc:MGI:3761354]|Heterozygous||C|T|116|37.0|Splice|Cryopreserved
5976367|IGL01024|11|69968422|Disrupted splicing|||MGI:1859017|Elp5|elongator acetyltransferase complex subunit 5 [Source:MGI Symbol;Acc:MGI:1859017]|Heterozygous||T|C|73|39.0|Splice|Cryopreserved
5976368|IGL01024|2|158740816|Disrupted splicing|||MGI:2151841|Ppp1r16b|protein phosphatase 1, regulatory (inhibitor) subunit 16B [Source:MGI Symbol;Acc:MGI:2151841]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis.|C|T|51|35.0|Splice|Cryopreserved
5976369|IGL01024|18|80079822|Disrupted splicing|||MGI:2135606|Pard6g|par-6 partitioning defective 6 homolog gamma (C. elegans) [Source:MGI Symbol;Acc:MGI:2135606]|Heterozygous||T|C|28|35.0|Splice|Cryopreserved
5976370|IGL01024|13|98686518|Disrupted splicing|||MGI:2685751|Tmem171|transmembrane protein 171 [Source:MGI Symbol;Acc:MGI:2685751]|Heterozygous||T|A|27|40.0|Splice|Cryopreserved
5976371|IGL01024|5|21801198|Disrupted splicing|||MGI:109555|Psmc2|proteasome (prosome, macropain) 26S subunit, ATPase 2 [Source:MGI Symbol;Acc:MGI:109555]|Heterozygous||T|C|22|39.0|Splice|Cryopreserved
5976372|IGL01025|1|174050685|F->S|0.95|Probably damaging|MGI:3030266|Olfr432|olfactory receptor 432 [Source:MGI Symbol;Acc:MGI:3030266]|Heterozygous||T|C|324|37.0|Non-synonymous|Cryopreserved
5976373|IGL01025|15|8350455|V->A|0.21|Benign|MGI:1913976|Nipbl|Nipped-B homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1913976]|Heterozygous|Mice heterozygous for a gene trap allele exhibit increased mortality from birth to early adulthood, decreased weight, decreased adipose tissue, delayed ossification, craniofacial abnormalities, and abnormal hearing, behavior, and eye morphology.|A|G|294|35.0|Non-synonymous|Cryopreserved
5976374|IGL01025|10|129250740|I->F|0.83|Possibly damaging|MGI:3030609|Olfr775|olfactory receptor 775 [Source:MGI Symbol;Acc:MGI:3030609]|Heterozygous||A|T|272|40.0|Non-synonymous|Cryopreserved
5976375|IGL01025|11|106250359|I->T|0.82|Possibly damaging|MGI:1860295|Ftsj3|FtsJ homolog 3 (E. coli) [Source:MGI Symbol;Acc:MGI:1860295]|Heterozygous||A|G|262|37.5|Non-synonymous|Cryopreserved
5976376|IGL01025|15|58054679|D->G|0.86|Possibly damaging|MGI:109271|Zhx1|zinc fingers and homeoboxes 1 [Source:MGI Symbol;Acc:MGI:109271]|Heterozygous||T|C|227|39.0|Non-synonymous|Cryopreserved
5976377|IGL01025|2|76799224|I->T|0.27|Benign|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|161|39.0|Non-synonymous|Cryopreserved
5976378|IGL01025|10|34407557|A->T|0.87|Possibly damaging|MGI:2442446|Nt5dc1|5'-nucleotidase domain containing 1 [Source:MGI Symbol;Acc:MGI:2442446]|Heterozygous||C|T|158|39.0|Non-synonymous|Cryopreserved
5976379|IGL01025|19|39639932|Y->Stop||N/A|MGI:3612288|Cyp2c67|cytochrome P450, family 2, subfamily c, polypeptide 67 [Source:MGI Symbol;Acc:MGI:3612288]|Heterozygous||A|C|157|36.0|Non-synonymous|Cryopreserved
5976380|IGL01025|9|7162789|I->T|1.0|Probably damaging|MGI:107736|Dync2h1|dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.|A|G|144|38.5|Non-synonymous|Cryopreserved
5976381|IGL01025|4|144363377|L->Q|1.0|Probably damaging|MGI:3651680|Gm13119|predicted gene 13119 [Source:MGI Symbol;Acc:MGI:3651680]|Heterozygous||T|A|141|39.0|Non-synonymous|Cryopreserved
5976382|IGL01025|11|69643887|H->R|1.0|Probably damaging|MGI:1346074|Fxr2|fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.|A|G|132|37.0|Non-synonymous|Cryopreserved
5976383|IGL01025|11|101073947|P->S||Benign|MGI:1351641|Naglu|alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) [Source:MGI Symbol;Acc:MGI:1351641]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced open field activity, massive accumulation of heparan sulfate in kidney and liver, elevated gangliosides in brain, and presence of vacuoles in macrophages, epithelial cells, and neurons.|C|T|100|39.0|Non-synonymous|Cryopreserved
5976384|IGL01025|1|163047866|D->G|||MGI:1925508|Armc11|armadillo repeat containing 11 [Source:MGI Symbol;Acc:MGI:1925508]|Heterozygous||T|C|93|37.0|Non-synonymous|Cryopreserved
5976385|IGL01025|2|107296391|V->A|0.95|Probably damaging|MGI:96661|Kcna4|potassium voltage-gated channel, shaker-related subfamily, member 4 [Source:MGI Symbol;Acc:MGI:96661]|Heterozygous||T|C|80|36.0|Non-synonymous|Cryopreserved
5976386|IGL01025|8|110326401|V->A|0.95|Possibly damaging|MGI:2389007|Hydin|HYDIN, axonemal central pair apparatus protein [Source:MGI Symbol;Acc:MGI:2389007]|Heterozygous|Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.|T|C|68|37.0|Non-synonymous|Cryopreserved
5976387|IGL01025|15|101423421|L->Q|0.35|Benign|MGI:96704|Krt7|keratin 7 [Source:MGI Symbol;Acc:MGI:96704]|Heterozygous||T|A|67|36.0|Non-synonymous|Cryopreserved
5976388|IGL01025|15|66613132|R->C|1.0|Probably damaging|MGI:2444412|Phf20l1|PHD finger protein 20-like 1 [Source:MGI Symbol;Acc:MGI:2444412]|Heterozygous||C|T|63|40.0|Non-synonymous|Cryopreserved
5976389|IGL01025|11|76795613|R->H|1.0|Probably damaging|MGI:107265|Cpd|carboxypeptidase D [Source:MGI Symbol;Acc:MGI:107265]|Heterozygous||C|T|60|38.0|Non-synonymous|Cryopreserved
5976390|IGL01025|2|76789525|V->A|0.89|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|59|36.0|Non-synonymous|Cryopreserved
5976391|IGL01025|4|155902219|V->M|0.46|Possibly damaging|MGI:2153589|Acap3|ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Source:MGI Symbol;Acc:MGI:2153589]|Heterozygous||G|A|58|36.5|Non-synonymous|Cryopreserved
5976392|IGL01025|11|99048243|H->Y|0.01|Benign|MGI:96439|Igfbp4|insulin-like growth factor binding protein 4 [Source:MGI Symbol;Acc:MGI:96439]|Heterozygous||C|T|57|39.0|Non-synonymous|Cryopreserved
5976393|IGL01025|15|97976173|K->R||Unknown|MGI:88452|Col2a1|collagen, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:88452]|Heterozygous|Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.|T|C|53|35.0|Non-synonymous|Cryopreserved
5976394|IGL01025|11|59551887|M->K|0.06|Benign|MGI:2653833|Nlrp3|NLR family, pyrin domain containing 3 [Source:MGI Symbol;Acc:MGI:2653833]|Heterozygous|Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.|T|A|50|39.0|Non-synonymous|Cryopreserved
5976395|IGL01025|9|21811807|E->G|0.12|Benign|MGI:1914789|Dock6|dedicator of cytokinesis 6 [Source:MGI Symbol;Acc:MGI:1914789]|Heterozygous||T|C|50|37.5|Non-synonymous|Cryopreserved
5976396|IGL01025|4|152108526|D->Y|1.0|Probably damaging|MGI:2652860|Plekhg5|pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:MGI Symbol;Acc:MGI:2652860]|Heterozygous|Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.|G|T|46|35.0|Non-synonymous|Cryopreserved
5976397|IGL01025|1|87386978|D->A|0.3|Benign|MGI:3781032, MGI:2138584|Gigyf2,kcnj13|GRB10 interacting GYF protein 2 [Source:MGI Symbol;Acc:MGI:2138584],potassium inwardly-rectifying channel, subfamily J, member 13 [Source:MGI Symbol;Acc:MGI:3781032]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.,NO_PHENOTYPE|T|G|44|38.0|Non-synonymous|Cryopreserved
5976398|IGL01025|14|55064260|E->G|1.0|Probably damaging|MGI:2686934|Zfhx2|zinc finger homeobox 2 [Source:MGI Symbol;Acc:MGI:2686934]|Heterozygous||T|C|43|37.0|Non-synonymous|Cryopreserved
5976399|IGL01025|18|12481037|V->I|0.05|Benign|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|G|A|43|37.0|Non-synonymous|Cryopreserved
5976400|IGL01025|5|30384253|L->P|0.24|Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|G|37|37.0|Non-synonymous|Cryopreserved
5976401|IGL01025|3|37046280|H->Q|0.91|Possibly damaging|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||T|A|36|39.5|Non-synonymous|Cryopreserved
5976402|IGL01025|9|100951657|T->A|0.93|Possibly damaging|MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||A|G|36|36.0|Non-synonymous|Cryopreserved
5976403|IGL01025|1|59484380|V->A|0.97|Probably damaging|MGI:108570|Fzd7|frizzled homolog 7 (Drosophila) [Source:MGI Symbol;Acc:MGI:108570]|Heterozygous||T|C|35|35.0|Non-synonymous|Cryopreserved
5976404|IGL01025|14|79384756|T->A|1.0|Probably damaging|MGI:1914147|Naa16|N(alpha)-acetyltransferase 16, NatA auxiliary subunit [Source:MGI Symbol;Acc:MGI:1914147]|Heterozygous||T|C|34|37.0|Non-synonymous|Cryopreserved
5976405|IGL01025|7|43532905|V->M|1.0|Probably damaging|MGI:99440|Cd33|CD33 antigen [Source:MGI Symbol;Acc:MGI:99440]|Heterozygous|Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation.|C|T|34|39.0|Non-synonymous|Cryopreserved
5976406|IGL01025|7|71350658|D->V||Unknown|MGI:3642770|Gm10295|predicted gene 10295 [Source:MGI Symbol;Acc:MGI:3642770]|Heterozygous||T|A|30|37.0|Non-synonymous|Cryopreserved
5976407|IGL01025|6|128325884|I->S|0.78|Possibly damaging|MGI:1329045|Tulp3|tubby-like protein 3 [Source:MGI Symbol;Acc:MGI:1329045]|Heterozygous|Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos.|A|C|29|35.0|Non-synonymous|Cryopreserved
5976408|IGL01025|1|20209176|G->R|0.11|Benign|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|C|T|28|38.0|Non-synonymous|Cryopreserved
5976409|IGL01025|8|34818512|E->V||Benign|MGI:2442191|Dusp4|dual specificity phosphatase 4 [Source:MGI Symbol;Acc:MGI:2442191]|Heterozygous|Mice homozygous for a null allele exhibit a decrease in B cell apoptosis of bone marrow-derived, IL-7- dependent pro-B lymphocytes.|A|T|28|34.0|Non-synonymous|Cryopreserved
5976410|IGL01025|5|76658074|D->G||Unknown|MGI:3711274|Gm10430|predicted gene 10430 [Source:MGI Symbol;Acc:MGI:3711274]|Heterozygous||A|G|27|35.0|Non-synonymous|Cryopreserved
5976411|IGL01025|6|83262533|L->Q|0.99|Probably damaging|MGI:2443220|Slc4a5|solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:MGI Symbol;Acc:MGI:2443220]|Heterozygous||T|A|27|39.0|Non-synonymous|Cryopreserved
5976412|IGL01025|5|110848670|D->G|1.0|Probably damaging|MGI:1355321|Chek2|checkpoint kinase 2 [Source:MGI Symbol;Acc:MGI:1355321]|Heterozygous|Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis.|A|G|26|37.0|Non-synonymous|Cryopreserved
5976413|IGL01025|14|50926254|L->F|0.02|Benign|MGI:88042|Apex1|apurinic/apyrimidinic endonuclease 1 [Source:MGI Symbol;Acc:MGI:88042]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10 associated with abnormal embryogenesis.|C|T|24|36.5|Non-synonymous|Cryopreserved
5976414|IGL01025|1|93430169|I->V||Benign|MGI:99256|Hdlbp|high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]|Heterozygous||T|C|22|37.0|Non-synonymous|Cryopreserved
5976415|IGL01025|19|7483041|S->P||Unknown|MGI:1339970|Rtn3|reticulon 3 [Source:MGI Symbol;Acc:MGI:1339970]|Heterozygous||A|G|21|33.0|Non-synonymous|Cryopreserved
5976416|IGL01025|8|70242535|D->N|1.0|Probably damaging|MGI:2678085|Sugp2|SURP and G patch domain containing 2 [Source:MGI Symbol;Acc:MGI:2678085]|Heterozygous||G|A|19|38.0|Non-synonymous|Cryopreserved
5976417|IGL01025|4|53737568|L->P|0.13|Benign|MGI:2179507|Fktn|fukutin [Source:MGI Symbol;Acc:MGI:2179507]|Heterozygous|Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes.|T|C|17|40.0|Non-synonymous|Cryopreserved
5976418|IGL01025|2|156052185|V->A|0.8|Possibly damaging|MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||A|G|16|34.5|Non-synonymous|Cryopreserved
5976419|IGL01025|17|71077917|N->D|1.0|Probably damaging|MGI:1341430|Myom1|myomesin 1 [Source:MGI Symbol;Acc:MGI:1341430]|Heterozygous||A|G|14|37.0|Non-synonymous|Cryopreserved
5976420|IGL01025|1|4492203|D->G|0.02|Benign|MGI:107543|Sox17|SRY-box containing gene 17 [Source:MGI Symbol;Acc:MGI:107543]|Heterozygous|Embryos homozygous for a targeted null mutation develop a deficient gut endoderm and die around embryonic day 10.5.|T|C|10|35.0|Non-synonymous|Cryopreserved
5976421|IGL01025|14|54979537|E->G|1.0|Probably damaging|MGI:2155600|Myh7|myosin, heavy polypeptide 7, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:2155600]|Heterozygous||T|C|10|37.0|Non-synonymous|Cryopreserved
5976422|IGL01025|19|8116908|Disrupted splicing|||MGI:3645714|Slc22a28|solute carrier family 22, member 28 [Source:MGI Symbol;Acc:MGI:3645714]|Heterozygous||G|T|167|39.0|Splice|Cryopreserved
5976423|IGL01025|9|38523733|Disrupted splicing|||MGI:3030745|Olfr911-ps1|olfactory receptor 911, pseudogene 1 [Source:MGI Symbol;Acc:MGI:3030745]|Heterozygous||A|G|79|39.0|Splice|Cryopreserved
5976424|IGL01025|12|65042481|Disrupted splicing|||MGI:104602|Prpf39|PRP39 pre-mRNA processing factor 39 homolog (yeast) [Source:MGI Symbol;Acc:MGI:104602]|Heterozygous||T|C|72|36.5|Splice|Cryopreserved
5976425|IGL01025|3|103353918|Disrupted splicing|||MGI:2137357|Trim33|tripartite motif-containing 33 [Source:MGI Symbol;Acc:MGI:2137357]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E9.5 with abnormal embryonic development.|G|A|39|38.0|Splice|Cryopreserved
5976426|IGL01025|7|23353161|Disrupted splicing|||MGI:3056600|Nlrp4e|NLR family, pyrin domain containing 4E [Source:MGI Symbol;Acc:MGI:3056600]|Heterozygous||T|C|26|38.0|Splice|Cryopreserved
5976427|IGL01025|10|122878629|Disrupted splicing|||MGI:2442087|Ppm1h|protein phosphatase 1H (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:2442087]|Heterozygous||T|A|23|37.0|Splice|Cryopreserved
6496487|IGL01284|1|34163928|Y->C|1.0|Probably damaging|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|A|G|138|40.0|Non-synonymous|Alive
6496488|IGL01284|10|105271511|Y->H|0.42|Benign|MGI:1914057|Tmtc2|transmembrane and tetratricopeptide repeat containing 2 [Source:MGI Symbol;Acc:MGI:1914057]|Heterozygous||A|G|96|39.0|Non-synonymous|Alive
6496489|IGL01284|5|89129673|A->T|0.94|Possibly damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|G|A|79|38.0|Non-synonymous|Alive
6496490|IGL01284|11|97166102|M->T|1.0|Probably damaging|MGI:107532|Kpnb1|karyopherin (importin) beta 1 [Source:MGI Symbol;Acc:MGI:107532]|Heterozygous|Homozygous mutation of this gene results in lethality shortly after implantation.|A|G|78|40.0|Non-synonymous|Alive
6496491|IGL01284|7|108868275|R->K|0.4|Benign|MGI:3030351|Olfr517|olfactory receptor 517 [Source:MGI Symbol;Acc:MGI:3030351]|Heterozygous||C|T|65|40.0|Non-synonymous|Alive
6496492|IGL01284|3|32462584|A->V|1.0|Probably damaging|MGI:1206581|Pik3ca|phosphatidylinositol 3-kinase, catalytic, alpha polypeptide [Source:MGI Symbol;Acc:MGI:1206581]|Heterozygous|Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis.|C|T|64|39.0|Non-synonymous|Alive
6496493|IGL01284|5|28410709|T->A|1.0|Probably damaging|MGI:1919670|Rbm33|RNA binding motif protein 33 [Source:MGI Symbol;Acc:MGI:1919670]|Heterozygous||A|G|61|37.0|Non-synonymous|Alive
6496494|IGL01284|2|32781479|D->G|0.56|Possibly damaging|MGI:2447809|1700019l03rik|RIKEN cDNA 1700019L03 gene [Source:MGI Symbol;Acc:MGI:2447809]|Heterozygous||T|C|53|37.0|Non-synonymous|Alive
6496495|IGL01284|9|42345620|F->L|0.99|Probably damaging|MGI:109575|Tecta|tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]|Heterozygous|Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.|A|G|51|39.0|Non-synonymous|Alive
6496496|IGL01284|8|11844231|Y->Stop||N/A|MGI:1922778|Tex29|testis expressed 29 [Source:MGI Symbol;Acc:MGI:1922778]|Heterozygous||C|A|47|37.0|Non-synonymous|Alive
6496497|IGL01284|13|62840285|S->G|0.98|Probably damaging|MGI:95491|Fbp2|fructose bisphosphatase 2 [Source:MGI Symbol;Acc:MGI:95491]|Heterozygous|This locus controls electrophoretic variation of fructose bisphosphatase isozymes in muscle. Isozymes of kidney, liver and testis are not affected. P, SEA, SWR and Peru-Coppock have a slow migrating band; SM, C3H/He, C57BL/Go, CE and DBA/2 have a fast migrating band. Heterozygotes are intermediate.|T|C|46|39.0|Non-synonymous|Alive
6496498|IGL01284|9|121490170|N->K|0.01|Benign|MGI:88297|Cck|cholecystokinin [Source:MGI Symbol;Acc:MGI:88297]|Heterozygous|Homozygous mice for one allele exhibit a significant decrease in prepulse inhibition while mice for another mutation appear normal but have increased enzyme levels of pancreatic amylase.|G|T|40|39.0|Non-synonymous|Alive
6496499|IGL01284|4|148614007|E->G|0.99|Probably damaging|MGI:1330832|Masp2|mannan-binding lectin serine peptidase 2 [Source:MGI Symbol;Acc:MGI:1330832]|Heterozygous|Homozygous disruption of the exon encoding the small mannose-binding lectin (MBL)-associated protein results in a defective lectin-mediated complement pathway with a 20% reduction in the ability of serum components to cleave C3 and C4 in the presence of mannose.|A|G|38|40.0|Non-synonymous|Alive
6496500|IGL01284|3|157146217|P->S|0.53|Possibly damaging|MGI:2444846|Negr1|neuronal growth regulator 1 [Source:MGI Symbol;Acc:MGI:2444846]|Heterozygous||C|T|37|40.0|Non-synonymous|Alive
6496501|IGL01284|14|69171877|S->P||Benign|MGI:97351|Nkx2-6|NK2 transcription factor related, locus 6 (Drosophila) [Source:MGI Symbol;Acc:MGI:97351]|Heterozygous|Mice homozygous for a targeted null allele are viable and fertile and develop normally, with no anomalies detected in the caudal pharyngeal pouch derivatives, heart or gut.|T|C|27|38.0|Non-synonymous|Alive
6496502|IGL01284|7|120660271|Y->D|0.95|Possibly damaging|MGI:1915233|Pdzd9|PDZ domain containing 9 [Source:MGI Symbol;Acc:MGI:1915233]|Heterozygous||A|C|26|34.0|Non-synonymous|Alive
6496503|IGL01284|7|79136782|S->P|1.0|Probably damaging|MGI:102768|Mfge8|milk fat globule-EGF factor 8 protein [Source:MGI Symbol;Acc:MGI:102768]|Heterozygous|Mice homozygous for disruptions in this gene display reduced male fertility associated with impaired zona pellucida binding. Fertility is unaffected in female mutant mice. Splenomegaly occurs with age and defects occur in phagocytosis.|A|G|25|39.0|Non-synonymous|Alive
6496504|IGL01284|12|35995581|D->G|0.31|Benign|MGI:1344405|Agr2|anterior gradient 2 (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:1344405]|Heterozygous|Mice homozygous for a knock-out allele exhibit colitis and increased susceptibility to induced colitis.|A|G|23|39.0|Non-synonymous|Alive
6496505|IGL01284|16|30309210|S->R|0.17|Benign|MGI:1096363|Gp5|glycoprotein 5 (platelet) [Source:MGI Symbol;Acc:MGI:1096363]|Heterozygous|Homozygotes for one null allele develop normally with no spontaneous bleeding while their platelets show normal thrombin responsiveness and lack a Bernard-Soulier phenotype. In contrast, homozygotes for a second null allele show a shorter bleeding time and platelet hyperresponsiveness to thrombin.|G|T|20|36.0|Non-synonymous|Alive
6496506|IGL01284|15|89110055|R->Q|||MGI:2146071|Tubgcp6|tubulin, gamma complex associated protein 6 [Source:MGI Symbol;Acc:MGI:2146071]|Heterozygous||C|T|18|39.0|Non-synonymous|Alive
6496507|IGL01284|1|153464898|L->F|0.98|Probably damaging|MGI:108177|Dhx9|DEAH (Asp-Glu-Ala-His) box polypeptide 9 [Source:MGI Symbol;Acc:MGI:108177]|Heterozygous|Homozygotes die in embryonic stages with massive apoptotic cell death in embryonic ectodermal cells.|C|A|16|40.0|Non-synonymous|Alive
6496508|IGL01284|14|24146197|E->G|1.0|Probably damaging|MGI:1918478|Dlg5|discs, large homolog 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918478]|Heterozygous|Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.|T|C|15|37.0|Non-synonymous|Alive
6496509|IGL01284|6|86850053|M->L||Unknown|MGI:1098687|Aak1|AP2 associated kinase 1 [Source:MGI Symbol;Acc:MGI:1098687]|Heterozygous||A|T|15|39.0|Non-synonymous|Alive
6496510|IGL01284|10|60466097|I->N|||MGI:1890219|Cdh23|cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|A|T|14|39.0|Non-synonymous|Alive
6496511|IGL01284|2|121052547|S->P|0.98|Probably damaging|MGI:1921426|Tgm5|transglutaminase 5 [Source:MGI Symbol;Acc:MGI:1921426]|Heterozygous||A|G|12|39.0|Non-synonymous|Alive
6496512|IGL01284|4|35218808|I->N|0.8|Possibly damaging|MGI:1920455|3110043o21rik|RIKEN cDNA 3110043O21 gene [Source:MGI Symbol;Acc:MGI:1920455]|Heterozygous||A|T|10|37.0|Non-synonymous|Alive
6496513|IGL01284|17|34839688|Disrupted splicing|||MGI:1099835|Skiv2l|superkiller viralicidic activity 2-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1099835]|Heterozygous||T|C|133|37.0|Splice|Alive
6496514|IGL01284|5|147860681|Disrupted splicing|||MGI:1913787|Pomp|proteasome maturation protein [Source:MGI Symbol;Acc:MGI:1913787]|Heterozygous||T|A|55|35.0|Splice|Alive
6497290|IGL01285|4|147615396|T->N|1.0|Probably damaging|MGI:2148252|2610305d13rik|RIKEN cDNA 2610305D13 gene [Source:MGI Symbol;Acc:MGI:2148252]|Heterozygous||G|T|217|40.0|Non-synonymous|Alive, Line Propagating
6497291|IGL01285|7|85957484|I->T|0.29|Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||A|G|134|40.0|Non-synonymous|Alive, Line Propagating
6497292|IGL01285|1|25093787|T->K|0.01|Benign|MGI:2441837|Bai3|brain-specific angiogenesis inhibitor 3 [Source:MGI Symbol;Acc:MGI:2441837]|Heterozygous||G|T|110|40.0|Non-synonymous|Alive, Line Propagating
6497293|IGL01285|7|144644742|Y->C|||MGI:2142149|Ano1|anoctamin 1, calcium activated chloride channel [Source:MGI Symbol;Acc:MGI:2142149]|Heterozygous|Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology.|T|C|107|39.0|Non-synonymous|Alive, Line Propagating
6497294|IGL01285|10|94799368|D->G|1.0|Probably damaging|MGI:1890127|Plxnc1|plexin C1 [Source:MGI Symbol;Acc:MGI:1890127]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration.|T|C|96|40.0|Non-synonymous|Alive, Line Propagating
6497295|IGL01285|6|124192411|H->N|0.01|Benign|MGI:3761517|Vmn2r27|vomeronasal 2, receptor27 [Source:MGI Symbol;Acc:MGI:3761517]|Heterozygous||G|T|88|39.0|Non-synonymous|Alive, Line Propagating
6497296|IGL01285|7|140950163|R->L|0.24|Benign|MGI:1934923|Ifitm5|interferon induced transmembrane protein 5 [Source:MGI Symbol;Acc:MGI:1934923]|Heterozygous||C|A|88|38.0|Non-synonymous|Alive, Line Propagating
6497297|IGL01285|2|76720498|T->S||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|A|86|39.0|Non-synonymous|Alive, Line Propagating
6497298|IGL01285|9|19440970|D->G|0.01|Benign|MGI:3030683|Olfr849|olfactory receptor 849 [Source:MGI Symbol;Acc:MGI:3030683]|Heterozygous||A|G|80|40.0|Non-synonymous|Alive, Line Propagating
6497299|IGL01285|12|113546273|Stop->Y||N/A|MGI:2676316|Adam6a|a disintegrin and metallopeptidase domain 6A [Source:MGI Symbol;Acc:MGI:2676316]|Heterozygous||A|T|79|38.0|Non-synonymous|Alive, Line Propagating
6497300|IGL01285|10|129540842|F->I|0.01|Benign|MGI:3030626|Olfr792|olfactory receptor 792 [Source:MGI Symbol;Acc:MGI:3030626]|Heterozygous||T|A|77|40.0|Non-synonymous|Alive, Line Propagating
6497301|IGL01285|8|24781594|N->S||Benign|MGI:104730|Adam5|a disintegrin and metallopeptidase domain 5 [Source:MGI Symbol;Acc:MGI:104730]|Heterozygous||T|C|76|39.0|Non-synonymous|Alive, Line Propagating
6497302|IGL01285|X|152659357|D->E|0.97|Probably damaging|MGI:107194|Shroom2|shroom family member 2 [Source:MGI Symbol;Acc:MGI:107194]|Heterozygous||A|T|70|39.0|Non-synonymous|Alive, Line Propagating
6497303|IGL01285|9|64660446|C->R|1.0|Probably damaging|MGI:1920951|Megf11|multiple EGF-like-domains 11 [Source:MGI Symbol;Acc:MGI:1920951]|Heterozygous||T|C|61|37.0|Non-synonymous|Alive, Line Propagating
6497304|IGL01285|16|18912180|T->A|0.02|Benign|MGI:99430|Hira|histone cell cycle regulation defective homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:99430]|Heterozygous|Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11.|A|G|58|37.0|Non-synonymous|Alive, Line Propagating
6497305|IGL01285|X|85109984|Q->Stop||N/A|MGI:94909|Dmd|dystrophin, muscular dystrophy [Source:MGI Symbol;Acc:MGI:94909]|Heterozygous|Hemizygous males and homozygous mutant females show progressive muscle atrophy, increased K+ and Ca+ in muscle with age, increased blood pyruvate kinase and other symptoms of Duchenne and Becker muscular dystrophy. Alleles vary in severity and may include cardiovascular and digestive system defects.|C|T|54|39.0|Non-synonymous|Alive, Line Propagating
6497306|IGL01285|11|103077870|F->L|0.22|Benign|MGI:107451|Plcd3|phospholipase C, delta 3 [Source:MGI Symbol;Acc:MGI:107451]|Heterozygous||A|G|52|37.0|Non-synonymous|Alive, Line Propagating
6497307|IGL01285|X|10039059|V->E|0.49|Possibly damaging|MGI:1858306|Srpx|sushi-repeat-containing protein [Source:MGI Symbol;Acc:MGI:1858306]|Heterozygous|Mice either heterozygous or homozygous for a knock-out allele display increased sensitivity to malignant tumor formation at 7-12 months of age. In addition, homozygotes exhibit atypical lymphocyte morphhology and splenomegaly.|A|T|51|38.0|Non-synonymous|Alive, Line Propagating
6497308|IGL01285|12|21229263|A->V|0.99|Probably damaging|MGI:2685438|Asap2|ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:2685438]|Heterozygous||C|T|50|39.0|Non-synonymous|Alive, Line Propagating
6497309|IGL01285|5|30405183|Q->K|1.0|Probably damaging|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|G|T|46|39.0|Non-synonymous|Alive, Line Propagating
6497310|IGL01285|5|117324889|N->S|0.09|Benign|MGI:2448533|Vsig10|V-set and immunoglobulin domain containing 10 [Source:MGI Symbol;Acc:MGI:2448533]|Heterozygous||A|G|45|37.0|Non-synonymous|Alive, Line Propagating
6497311|IGL01285|14|50320256|F->S|0.38|Benign|MGI:3030568|Olfr734|olfactory receptor 734 [Source:MGI Symbol;Acc:MGI:3030568]|Heterozygous||A|G|44|40.0|Non-synonymous|Alive, Line Propagating
6497313|IGL01285|2|109723586|A->T|0.01|Benign|MGI:88145|Bdnf|brain derived neurotrophic factor [Source:MGI Symbol;Acc:MGI:88145]|Heterozygous|Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects.|G|A|41|36.0|Non-synonymous|Alive, Line Propagating
6497314|IGL01285|10|78588887|E->D|||MGI:1918959|Syde1|synapse defective 1, Rho GTPase, homolog 1 (C. elegans) [Source:MGI Symbol;Acc:MGI:1918959]|Heterozygous||T|A|40|39.0|Non-synonymous|Alive, Line Propagating
6497315|IGL01285|2|167038695|R->C|0.87|Possibly damaging|MGI:2138982|Znfx1|zinc finger, NFX1-type containing 1 [Source:MGI Symbol;Acc:MGI:2138982]|Heterozygous||G|A|39|37.0|Non-synonymous|Alive, Line Propagating
6497316|IGL01285|14|36938669|T->M|0.97|Probably damaging|MGI:101859|Gcap14|granule cell antiserum positive 14 [Source:MGI Symbol;Acc:MGI:101859]|Heterozygous||G|A|35|40.0|Non-synonymous|Alive, Line Propagating
6497317|IGL01285|9|80136718|R->Q|0.96|Probably damaging|MGI:1922075|Senp6|SUMO/sentrin specific peptidase 6 [Source:MGI Symbol;Acc:MGI:1922075]|Heterozygous||G|A|33|39.0|Non-synonymous|Alive, Line Propagating
6497318|IGL01285|15|32574997|V->D|0.77|Possibly damaging|MGI:107556|Sema5a|sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A [Source:MGI Symbol;Acc:MGI:107556]|Heterozygous|Homozygous null mice die between E11.5 and E12.5 and exhibit decreased complexity of the hierarchically organized branches of the cranial cardinal veins. Mice homozygous for a second targeted mutation appear normal.|T|A|32|39.0|Non-synonymous|Alive, Line Propagating
6497319|IGL01285|5|129849970|D->G|0.12|Benign|MGI:1915152|Sumf2|sulfatase modifying factor 2 [Source:MGI Symbol;Acc:MGI:1915152]|Heterozygous||A|G|32|38.5|Non-synonymous|Alive, Line Propagating
6497320|IGL01285|5|140629412|C->F|0.98|Probably damaging|MGI:1925589|Ttyh3|tweety homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925589]|Heterozygous||C|A|31|38.0|Non-synonymous|Alive, Line Propagating
6497321|IGL01285|14|55607601|E->G|0.03|Benign|MGI:107587|Irf9|interferon regulatory factor 9 [Source:MGI Symbol;Acc:MGI:107587]|Heterozygous|Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, antivirus response induced by Ifn alfpha and Ifn gamma are impaired.|A|G|30|35.0|Non-synonymous|Alive, Line Propagating
6497322|IGL01285|6|136709741|F->S|1.0|Probably damaging|MGI:106903|Gucy2c|guanylate cyclase 2c [Source:MGI Symbol;Acc:MGI:106903]|Heterozygous|Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins.|A|G|30|40.0|Non-synonymous|Alive, Line Propagating
6497323|IGL01285|1|75362583|A->T|0.08|Benign|MGI:94885|Des|desmin [Source:MGI Symbol;Acc:MGI:94885]|Heterozygous|Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium.|G|A|26|38.0|Non-synonymous|Alive, Line Propagating
6497324|IGL01285|7|144595538|V->A|||MGI:2142149|Ano1|anoctamin 1, calcium activated chloride channel [Source:MGI Symbol;Acc:MGI:2142149]|Heterozygous|Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology.|A|G|24|38.0|Non-synonymous|Alive, Line Propagating
6497325|IGL01285|7|107590157|N->S|0.09|Benign|MGI:2679264|Olfml1|olfactomedin-like 1 [Source:MGI Symbol;Acc:MGI:2679264]|Heterozygous||A|G|23|39.0|Non-synonymous|Alive, Line Propagating
6497326|IGL01285|9|65123991|C->R|0.84|Possibly damaging|MGI:1858497|Igdcc4|immunoglobulin superfamily, DCC subclass, member 4 [Source:MGI Symbol;Acc:MGI:1858497]|Heterozygous||T|C|21|35.0|Non-synonymous|Alive, Line Propagating
6497327|IGL01285|3|116694613|S->P|0.81|Possibly damaging|MGI:1917648|Slc35a3|solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3 [Source:MGI Symbol;Acc:MGI:1917648]|Heterozygous||A|G|20|39.0|Non-synonymous|Alive, Line Propagating
6497328|IGL01285|9|35776748|N->K|0.35|Benign|MGI:4937361|Gm17727|predicted gene, 17727 [Source:MGI Symbol;Acc:MGI:4937361]|Heterozygous||A|T|20|40.5|Non-synonymous|Alive, Line Propagating
6497329|IGL01285|1|153758384|D->V|0.83|Possibly damaging|MGI:1098272|Rnasel|ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) [Source:MGI Symbol;Acc:MGI:1098272]|Heterozygous|Mice homozygous for disruptions in this gene have an enlarged spleen and increased succeptibility to viral infection.|A|T|18|37.5|Non-synonymous|Alive, Line Propagating
6497330|IGL01285|6|132737678|S->R|1.0|Probably damaging|MGI:2681223|Tas2r115|taste receptor, type 2, member 115 [Source:MGI Symbol;Acc:MGI:2681223]|Heterozygous||G|T|18|40.0|Non-synonymous|Alive, Line Propagating
6497331|IGL01285|X|79489158|I->T|0.54|Possibly damaging|MGI:3645063|Gm7173|predicted gene 7173 [Source:MGI Symbol;Acc:MGI:3645063]|Heterozygous||A|G|16|40.0|Non-synonymous|Alive, Line Propagating
6497332|IGL01285|2|30171963|R->L|0.68|Possibly damaging|MGI:1261433|Endog|endonuclease G [Source:MGI Symbol;Acc:MGI:1261433]|Heterozygous|Homozygous null mice are viable and have no detectable abnormalities.|G|T|15|35.0|Non-synonymous|Alive, Line Propagating
6497333|IGL01285|2|155500771|V->A|0.89|Possibly damaging|MGI:1913385|Ggt7|gamma-glutamyltransferase 7 [Source:MGI Symbol;Acc:MGI:1913385]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive, Line Propagating
6497334|IGL01285|11|32610653|K->N|0.38|Benign|MGI:1099439|Stk10|serine/threonine kinase 10 [Source:MGI Symbol;Acc:MGI:1099439]|Heterozygous|Targeted disruption of this gene results in enhanced cell adhesion in mitogen-stimulated T cells.|A|T|12|38.0|Non-synonymous|Alive, Line Propagating
6497335|IGL01285|1|89996241|V->A|0.17|Benign|MGI:2655109|Asb18|ankyrin repeat and SOCS box-containing 18 [Source:MGI Symbol;Acc:MGI:2655109]|Heterozygous||A|G|10|30.5|Non-synonymous|Alive, Line Propagating
6497336|IGL01285|16|11139115|S->P|1.0|Probably damaging|MGI:2445044|Zc3h7a|zinc finger CCCH type containing 7 A [Source:MGI Symbol;Acc:MGI:2445044]|Heterozygous||A|G|10|40.0|Non-synonymous|Alive, Line Propagating
6497337|IGL01285|11|99006159|Disrupted splicing|||MGI:98790|Top2a|topoisomerase (DNA) II alpha [Source:MGI Symbol;Acc:MGI:98790]|Heterozygous||G|A|42|40.0|Splice|Alive, Line Propagating
6497966|IGL01286|15|97994878|P->L||Unknown|MGI:88452|Col2a1|collagen, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:88452]|Heterozygous|Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix.|G|A|183|37.0|Non-synonymous|Alive, Line Propagating
6497967|IGL01286|8|13090660|D->G|1.0|Probably damaging|MGI:2443003|Pcid2|PCI domain containing 2 [Source:MGI Symbol;Acc:MGI:2443003]|Heterozygous|Homozygotes for a targeted null mutation implant, but die prior to embryonic day 7.5. Heterozygotes also exhibit excess embryonic loss.|T|C|183|38.0|Non-synonymous|Alive, Line Propagating
6497968|IGL01286|8|102664629|Q->L|0.98|Probably damaging|MGI:99217|Cdh11|cadherin 11 [Source:MGI Symbol;Acc:MGI:99217]|Heterozygous|Homozygous mutant animals appear healthy and fertile.|T|A|126|40.0|Non-synonymous|Alive, Line Propagating
6497970|IGL01286|5|100485607|T->A||Benign|MGI:2140902|Lin54|lin-54 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2140902]|Heterozygous||T|C|106|38.0|Non-synonymous|Alive, Line Propagating
6497971|IGL01286|12|29982754|E->G||Benign|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||A|G|104|39.0|Non-synonymous|Alive, Line Propagating
6497972|IGL01286|10|129350650|L->H|1.0|Probably damaging|MGI:3030616|Olfr782|olfactory receptor 782 [Source:MGI Symbol;Acc:MGI:3030616]|Heterozygous||T|A|103|40.0|Non-synonymous|Alive, Line Propagating
6497973|IGL01286|19|40092284|K->N|0.08|Benign|MGI:2147497|Cyp2c50|cytochrome P450, family 2, subfamily c, polypeptide 50 [Source:MGI Symbol;Acc:MGI:2147497]|Heterozygous||A|T|87|40.0|Non-synonymous|Alive, Line Propagating
6497974|IGL01286|13|73628297|R->H|0.66|Possibly damaging|MGI:1202709|Tert|telomerase reverse transcriptase [Source:MGI Symbol;Acc:MGI:1202709]|Heterozygous|In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations. Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele.|G|A|86|39.0|Non-synonymous|Alive, Line Propagating
6497975|IGL01286|9|108045883|T->A|0.1|Benign|MGI:1351633|Ip6k1|inositol hexaphosphate kinase 1 [Source:MGI Symbol;Acc:MGI:1351633]|Heterozygous|Homozygous mutation of this gene results in impaired glucose tolerance, decreased insulin levels, bilateral epididymal aspermia, and testicular degeneration in males.|A|G|86|37.0|Non-synonymous|Alive, Line Propagating
6497976|IGL01286|8|110222852|I->N|0.71|Possibly damaging|MGI:2384580|Ftsjd1|FtsJ methyltransferase domain containing 1 [Source:MGI Symbol;Acc:MGI:2384580]|Heterozygous||T|A|69|38.0|Non-synonymous|Alive, Line Propagating
6497977|IGL01286|4|148165706|N->S||Benign|MGI:2446216|Fbxo2|F-box protein 2 [Source:MGI Symbol;Acc:MGI:2446216]|Heterozygous|Homozygotes for a targeted mutation are behaviorally normal but display accelerated, age-related hearing loss associated with cochlear degeneration. Cellular degeneration begins at 2 months in the supporting cells of the organ of Corti and progresses to cochlear hair cells and the spiral ganglion.|A|G|58|38.0|Non-synonymous|Alive, Line Propagating
6497978|IGL01286|18|80218741|T->I||Benign|MGI:1351613|Txnl4a|thioredoxin-like 4A [Source:MGI Symbol;Acc:MGI:1351613]|Heterozygous||C|T|53|41.0|Non-synonymous|Alive, Line Propagating
6497979|IGL01286|X|155574824|T->A|0.46|Possibly damaging|MGI:2685233|Ptchd1|patched domain containing 1 [Source:MGI Symbol;Acc:MGI:2685233]|Heterozygous||T|C|51|40.0|Non-synonymous|Alive, Line Propagating
6497980|IGL01286|16|17898958|T->I|0.15|Benign|MGI:1347559|Tssk2|testis-specific serine kinase 2 [Source:MGI Symbol;Acc:MGI:1347559]|Heterozygous|Male mice homozygous for a knock-out allele of Tssk1 and 2 are infertile due to arrested spermatogenesis.|C|T|37|39.0|Non-synonymous|Alive, Line Propagating
6497981|IGL01286|19|40934506|K->R||Benign|MGI:96878|Blnk|B cell linker [Source:MGI Symbol;Acc:MGI:96878]|Heterozygous|Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma.|T|C|33|41.0|Non-synonymous|Alive, Line Propagating
6497982|IGL01286|6|118559107|V->E|1.0|Probably damaging|MGI:1917887|Ankrd26|ankyrin repeat domain 26 [Source:MGI Symbol;Acc:MGI:1917887]|Heterozygous|Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism.|A|T|31|39.0|Non-synonymous|Alive, Line Propagating
6497983|IGL01286|7|131246703|N->I|1.0|Probably damaging|MGI:1918645|5430419d17rik|RIKEN cDNA 5430419D17 gene [Source:MGI Symbol;Acc:MGI:1918645]|Heterozygous||A|T|31|39.0|Non-synonymous|Alive, Line Propagating
6497984|IGL01286|3|72941025|W->R|||MGI:97528|Sis|sucrase isomaltase (alpha-glucosidase) [Source:MGI Symbol;Acc:MGI:1917233]|Heterozygous||A|T|30|38.5|Non-synonymous|Alive, Line Propagating
6497985|IGL01286|7|87602565|S->P||Benign|MGI:1351342|Grm5|glutamate receptor, metabotropic 5 [Source:MGI Symbol;Acc:MGI:1351342]|Heterozygous|Homozygous null mice have reduced corticostriatal long term potentiation, do not exhibit hyperactivity after cocaine consumption and do not self-administer cocaine.|T|C|29|40.0|Non-synonymous|Alive, Line Propagating
6497986|IGL01286|5|134589389|L->P|0.95|Possibly damaging|MGI:1341868|Rfc2|replication factor C (activator 1) 2 [Source:MGI Symbol;Acc:MGI:1341868]|Heterozygous||T|C|28|36.0|Non-synonymous|Alive, Line Propagating
6497987|IGL01286|6|4533891|E->D||Unknown|MGI:88468|Col1a2|collagen, type I, alpha 2 [Source:MGI Symbol;Acc:MGI:88468]|Heterozygous|Animals homozygous for a mutation in this gene exhibit reduced body size, reduced bone density and cortical bone thickness, fractured and deformed long bones, dorsal kyphosis, and droopy wrists. Older mutants develop an abnormal gait.|A|C|28|40.0|Non-synonymous|Alive, Line Propagating
6497988|IGL01286|11|8492617|S->N|0.14|Benign|MGI:2443012|Tns3|tensin 3 [Source:MGI Symbol;Acc:MGI:2443012]|Heterozygous|Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation.|C|T|21|39.0|Non-synonymous|Alive, Line Propagating
6497989|IGL01286|8|61124216|V->D|0.18|Benign|MGI:97303|Nek1|NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]|Heterozygous|Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.|T|A|21|39.0|Non-synonymous|Alive, Line Propagating
6497990|IGL01286|3|57650722|T->M||Benign|MGI:1098806|Commd2|COMM domain containing 2 [Source:MGI Symbol;Acc:MGI:1098806]|Heterozygous||G|A|20|40.0|Non-synonymous|Alive, Line Propagating
6497991|IGL01286|10|121602338|D->G||Benign|MGI:1920442|Xpot|exportin, tRNA (nuclear export receptor for tRNAs) [Source:MGI Symbol;Acc:MGI:1920442]|Heterozygous||T|C|18|35.0|Non-synonymous|Alive, Line Propagating
6497992|IGL01286|18|6629578|C->S|0.61|Possibly damaging|MGI:1918151|4921524l21rik|RIKEN cDNA 4921524L21 gene [Source:MGI Symbol;Acc:MGI:1918151]|Heterozygous||T|A|17|39.0|Non-synonymous|Alive, Line Propagating
6497993|IGL01286|11|121493893|Disrupted splicing|||MGI:1919686|Tbcd|tubulin-specific chaperone d [Source:MGI Symbol;Acc:MGI:1919686]|Heterozygous||T|C|34|39.0|Splice|Alive, Line Propagating
6497994|IGL01286|18|42139611|Disrupted splicing|||MGI:2444628|Sh3rf2|SH3 domain containing ring finger 2 [Source:MGI Symbol;Acc:MGI:2444628]|Heterozygous||T|C|24|38.0|Splice|Alive, Line Propagating
6497995|IGL01286|11|108859409|Disrupted splicing|||MGI:1923673|Ccdc46|coiled-coil domain containing 46 [Source:MGI Symbol;Acc:MGI:1923673]|Heterozygous||T|C|21|37.0|Splice|Alive, Line Propagating
6497996|IGL01286|6|41688117|Disrupted splicing|||MGI:1346053|Kel|Kell blood group [Source:MGI Symbol;Acc:MGI:1346053]|Heterozygous||G|T|17|37.0|Splice|Alive, Line Propagating
6498620|IGL01287|6|57405194|D->G|1.0|Probably damaging|MGI:2159463|Vmn1r19|vomeronasal 1 receptor 19 [Source:MGI Symbol;Acc:MGI:2159463]|Heterozygous||A|G|204|39.0|Non-synonymous|Alive, Line Propagating
6498621|IGL01287|5|86022454|R->Stop||N/A|MGI:99700|Cenpc1|centromere protein C1 [Source:MGI Symbol;Acc:MGI:99700]|Heterozygous|Homozygous mutation of this gene results in early embryonic lethality and mitotic abnormalities.|G|A|177|39.0|Non-synonymous|Alive, Line Propagating
6498622|IGL01287|7|104861315|S->P|0.83|Possibly damaging|MGI:107699|Dub1|deubiquitinating enzyme 1 [Source:MGI Symbol;Acc:MGI:107699]|Heterozygous||T|C|148|39.0|Non-synonymous|Alive, Line Propagating
6498623|IGL01287|7|86148593|I->F|||MGI:3648311|Vmn2r75|vomeronasal 2, receptor 75 [Source:MGI Symbol;Acc:MGI:3648311]|Heterozygous||T|A|110|38.0|Non-synonymous|Alive, Line Propagating
6498624|IGL01287|4|96583428|E->G|0.02|Benign|MGI:1921769|Cyp2j9|cytochrome P450, family 2, subfamily j, polypeptide 9 [Source:MGI Symbol;Acc:MGI:1921769]|Heterozygous||T|C|78|40.0|Non-synonymous|Alive, Line Propagating
6498625|IGL01287|12|74266739|T->S|0.93|Possibly damaging|MGI:2673872|Syt16|synaptotagmin XVI [Source:MGI Symbol;Acc:MGI:2673872]|Heterozygous||A|T|76|36.0|Non-synonymous|Alive, Line Propagating
6498626|IGL01287|15|81955744|T->A|0.99|Probably damaging|MGI:1353418|Pmm1|phosphomannomutase 1 [Source:MGI Symbol;Acc:MGI:1353418]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns.|T|C|75|38.0|Non-synonymous|Alive, Line Propagating
6498627|IGL01287|2|87990944|T->A|0.09|Benign|MGI:3030992|Olfr1158|olfactory receptor 1158 [Source:MGI Symbol;Acc:MGI:3030992]|Heterozygous||A|G|67|39.0|Non-synonymous|Alive, Line Propagating
6498628|IGL01287|17|56882203|Q->Stop||N/A|MGI:1925875|1700061g19rik|RIKEN cDNA 1700061G19 gene [Source:MGI Symbol;Acc:MGI:1925875]|Heterozygous||C|T|65|40.0|Non-synonymous|Alive, Line Propagating
6498629|IGL01287|8|22111183|N->S|0.35|Benign|MGI:2142824|Nek5|NIMA (never in mitosis gene a)-related expressed kinase 5 [Source:MGI Symbol;Acc:MGI:2142824]|Heterozygous||T|C|65|37.0|Non-synonymous|Alive, Line Propagating
6498630|IGL01287|9|37413040|P->S|0.64|Possibly damaging|MGI:1921394|Robo4|roundabout homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921394]|Heterozygous||C|T|64|39.0|Non-synonymous|Alive, Line Propagating
6498631|IGL01287|7|103451795|R->W|1.0|Probably damaging|MGI:3030440|Olfr606|olfactory receptor 606 [Source:MGI Symbol;Acc:MGI:3030440]|Heterozygous||C|T|63|39.0|Non-synonymous|Alive, Line Propagating
6498632|IGL01287|8|119601192|T->M|0.03|Benign|MGI:109576|Taf1c|TATA box binding protein (Tbp)-associated factor, RNA polymerase I, C [Source:MGI Symbol;Acc:MGI:109576]|Heterozygous||G|A|60|39.0|Non-synonymous|Alive, Line Propagating
6498633|IGL01287|1|185296428|I->F|0.01|Benign|MGI:1919586|Iars2|isoleucine-tRNA synthetase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:1919586]|Heterozygous||T|A|58|40.0|Non-synonymous|Alive, Line Propagating
6498634|IGL01287|11|82956981|T->A|1.0|Probably damaging|MGI:1329004|Slfn5|schlafen 5 [Source:MGI Symbol;Acc:MGI:1329004]|Heterozygous||A|G|58|38.0|Non-synonymous|Alive, Line Propagating
6498636|IGL01287|5|3606027|T->A||Benign|MGI:1918632|Pex1|peroxisomal biogenesis factor 1 [Source:MGI Symbol;Acc:MGI:1918632]|Heterozygous||A|G|57|34.0|Non-synonymous|Alive, Line Propagating
6498637|IGL01287|17|38082107|N->K|1.0|Probably damaging|MGI:2177514|Olfr131|olfactory receptor 131 [Source:MGI Symbol;Acc:MGI:2177514]|Heterozygous||G|T|56|39.0|Non-synonymous|Alive, Line Propagating
6498638|IGL01287|X|100807242|I->T||Benign|MGI:1888986|Dlg3|discs, large homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1888986]|Heterozygous|Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning.|T|C|51|35.0|Non-synonymous|Alive, Line Propagating
6498639|IGL01287|14|44655343|F->I|0.99|Probably damaging|MGI:3644430|Gm8257|predicted pseudogene 8257 [Source:MGI Symbol;Acc:MGI:3644430]|Heterozygous||A|T|48|39.0|Non-synonymous|Alive, Line Propagating
6498640|IGL01287|7|5411055|F->I|||MGI:3033473|Vmn1r58|vomeronasal 1 receptor 58 [Source:MGI Symbol;Acc:MGI:3033473]|Heterozygous||A|T|47|40.0|Non-synonymous|Alive, Line Propagating
6498641|IGL01287|X|16712642|A->V|1.0|Probably damaging|MGI:96916|Maob|monoamine oxidase B [Source:MGI Symbol;Acc:MGI:96916]|Heterozygous||G|A|45|39.0|Non-synonymous|Alive, Line Propagating
6498642|IGL01287|7|85569019|R->Stop||N/A|MGI:3761314|Vmn2r70|vomeronasal 2, receptor 70 [Source:MGI Symbol;Acc:MGI:3761314]|Heterozygous||T|A|42|41.0|Non-synonymous|Alive, Line Propagating
6498643|IGL01287|19|34648133|E->G|0.82|Possibly damaging|MGI:99450|Ifit1|interferon-induced protein with tetratricopeptide repeats 1 [Source:MGI Symbol;Acc:MGI:99450]|Heterozygous||A|G|41|40.0|Non-synonymous|Alive, Line Propagating
6498644|IGL01287|16|45584448|K->Stop||N/A|MGI:2685456|Slc9a10|solute carrier family 9, member 10 [Source:MGI Symbol;Acc:MGI:2685456]|Heterozygous||A|T|40|41.0|Non-synonymous|Alive, Line Propagating
6498645|IGL01287|17|50813798|D->G|0.6|Possibly damaging|MGI:1919488|Tbc1d5|TBC1 domain family, member 5 [Source:MGI Symbol;Acc:MGI:1919488]|Heterozygous||T|C|40|37.5|Non-synonymous|Alive, Line Propagating
6498646|IGL01287|7|8485623|M->K|||MGI:3757883|Vmn2r45|vomeronasal 2, receptor 45 [Source:MGI Symbol;Acc:MGI:3757883]|Heterozygous||A|T|37|39.0|Non-synonymous|Alive, Line Propagating
6498647|IGL01287|7|126851001|R->C|1.0|Probably damaging|MGI:109446|Doc2a|double C2, alpha [Source:MGI Symbol;Acc:MGI:109446]|Heterozygous|Homozygous inactivation of this locus affects excitatory synaptic transmission, LTP, and learning/memory.|C|T|33|36.0|Non-synonymous|Alive, Line Propagating
6498648|IGL01287|10|43992494|R->H|0.02|Benign|MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||C|T|31|37.0|Non-synonymous|Alive, Line Propagating
6498649|IGL01287|4|41498923|I->F|0.67|Possibly damaging|MGI:2140300|Ai464131|expressed sequence AI464131 [Source:MGI Symbol;Acc:MGI:2140300]|Heterozygous||T|A|31|39.0|Non-synonymous|Alive, Line Propagating
6498650|IGL01287|9|88456607|D->G|||MGI:5142002, MGI:1891690|Syncrip,gm20537|synaptotagmin binding, cytoplasmic RNA interacting protein [Source:MGI Symbol;Acc:MGI:1891690],predicted gene 20537 [Source:MGI Symbol;Acc:MGI:5142002]|Heterozygous||T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6498651|IGL01287|2|119755705|T->S|0.05|Benign|MGI:96840|Ltk|leukocyte tyrosine kinase [Source:MGI Symbol;Acc:MGI:96840]|Heterozygous||T|A|25|36.0|Non-synonymous|Alive, Line Propagating
6498652|IGL01287|3|95899559|V->M|0.92|Possibly damaging|MGI:1344341|Car14|carbonic anhydrase 14 [Source:MGI Symbol;Acc:MGI:1344341]|Heterozygous|Mice homozygous for a knock-out allele are viable and display normal growth, health and fertility.|C|T|25|37.0|Non-synonymous|Alive, Line Propagating
6498653|IGL01287|7|25726898|N->K|1.0|Probably damaging|MGI:2443517|Hnrnpul1|heterogeneous nuclear ribonucleoprotein U-like 1 [Source:MGI Symbol;Acc:MGI:2443517]|Heterozygous||A|T|25|40.0|Non-synonymous|Alive, Line Propagating
6498654|IGL01287|8|21831171|T->K||Benign|MGI:3055870|Defb50|defensin beta 50 [Source:MGI Symbol;Acc:MGI:3055870]|Heterozygous||C|A|22|38.5|Non-synonymous|Alive, Line Propagating
6498655|IGL01287|2|13310566|S->P|0.73|Possibly damaging|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|A|G|21|39.0|Non-synonymous|Alive, Line Propagating
6498656|IGL01287|2|91473948|D->E|0.99|Probably damaging|MGI:2442252|Lrp4|low density lipoprotein receptor-related protein 4 [Source:MGI Symbol;Acc:MGI:2442252]|Heterozygous|Homozygous mice have malformed digits on all 4 feet, some exhibiting brachydactyly, some syndactyly.|C|A|21|39.0|Non-synonymous|Alive, Line Propagating
6498657|IGL01287|3|88056674|H->R|1.0|Probably damaging|MGI:2180167|Apoa1bp|apolipoprotein A-I binding protein [Source:MGI Symbol;Acc:MGI:2180167]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive, Line Propagating
6498658|IGL01287|9|57257757|K->E|0.97|Probably damaging|MGI:1921461|1700017b05rik|RIKEN cDNA 1700017B05 gene [Source:MGI Symbol;Acc:MGI:1921461]|Heterozygous||T|C|18|38.0|Non-synonymous|Alive, Line Propagating
6498659|IGL01287|13|43480504|E->G|1.0|Probably damaging|MGI:1928741|Ranbp9|RAN binding protein 9 [Source:MGI Symbol;Acc:MGI:1928741]|Heterozygous|Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure.|T|C|15|34.0|Non-synonymous|Alive, Line Propagating
6498660|IGL01287|2|112709073|N->I|0.77|Possibly damaging|MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|T|A|14|39.0|Non-synonymous|Alive, Line Propagating
6498661|IGL01287|9|87724331|T->A|||MGI:1923615|Tbx18|T-box18 [Source:MGI Symbol;Acc:MGI:1923615]|Heterozygous|Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib, and spinal nerve morphology.|T|C|14|37.5|Non-synonymous|Alive, Line Propagating
6498662|IGL01287|11|6515856|V->F|0.67|Possibly damaging|MGI:1927091|Myo1g|myosin IG [Source:MGI Symbol;Acc:MGI:1927091]|Heterozygous||C|A|13|35.0|Non-synonymous|Alive, Line Propagating
6498663|IGL01287|11|69001260|S->P|0.01|Benign|MGI:2684864|Pfas|phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) [Source:MGI Symbol;Acc:MGI:2684864]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive, Line Propagating
6498665|IGL01287|2|58280242|C->Stop||N/A|MGI:2661081|Acvr1c|activin A receptor, type IC [Source:MGI Symbol;Acc:MGI:2661081]|Heterozygous|Homozygous null mice display normal growth, gut, skeleton, spleen, and cerebellum morphology, glucose and insulin levels, and left-right patterning.|A|T|12|39.0|Non-synonymous|Alive, Line Propagating
6498666|IGL01287|1|107540882|Disrupted splicing|||MGI:2138648|Serpinb10|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 [Source:MGI Symbol;Acc:MGI:2138648]|Heterozygous||T|C|54|40.0|Splice|Alive, Line Propagating
6498667|IGL01287|7|120332858|Disrupted splicing|||MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||A|T|45|41.0|Splice|Alive, Line Propagating
6498668|IGL01287|12|98246244|Disrupted splicing|||MGI:95636|Galc|galactosylceramidase [Source:MGI Symbol;Acc:MGI:95636]|Heterozygous|Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age.|T|C|37|39.0|Splice|Alive, Line Propagating
6498669|IGL01287|18|46864666|Disrupted splicing|||MGI:1921824|4833403i15rik|RIKEN cDNA 4833403I15 gene [Source:MGI Symbol;Acc:MGI:1921824]|Heterozygous||A|T|31|37.0|Splice|Alive, Line Propagating
6498670|IGL01287|15|76709912|Disrupted splicing|||MGI:1931028|Recql4|RecQ protein-like 4 [Source:MGI Symbol;Acc:MGI:1931028]|Heterozygous||C|A|27|41.0|Splice|Alive, Line Propagating
6498671|IGL01287|18|32123820|Disrupted splicing|||MGI:97771|Proc|protein C [Source:MGI Symbol;Acc:MGI:97771]|Heterozygous|Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice.|C|A|23|41.0|Splice|Alive, Line Propagating
6498672|IGL01287|X|57047367|Disrupted splicing|||MGI:1100501|Brs3|bombesin-like receptor 3 [Source:MGI Symbol;Acc:MGI:1100501]|Heterozygous|Homozygotes for a targeted null mutation exhibit mild obesity, hypertension, impaired glucose metabolism, reduced metabolic rate, and hyperphagia.|T|C|15|40.0|Splice|Alive, Line Propagating
6499279|IGL01288|11|73907313|Y->N|0.91|Possibly damaging|MGI:3030229|Olfr395|olfactory receptor 395 [Source:MGI Symbol;Acc:MGI:3030229]|Heterozygous||A|T|290|39.0|Non-synonymous|Alive, Line Propagating
6499280|IGL01288|4|113524135|R->G|0.9|Possibly damaging|MGI:3650151|Skint5|selection and upkeep of intraepithelial T cells 5 [Source:MGI Symbol;Acc:MGI:3650151]|Heterozygous||T|C|150|40.0|Non-synonymous|Alive, Line Propagating
6499281|IGL01288|19|12650355|T->A|0.73|Possibly damaging|MGI:2147502|Glyat|glycine-N-acyltransferase [Source:MGI Symbol;Acc:MGI:2147502]|Heterozygous||A|G|137|40.0|Non-synonymous|Alive, Line Propagating
6499282|IGL01288|7|140176615|L->P|0.6|Possibly damaging|MGI:3030357|Olfr523|olfactory receptor 523 [Source:MGI Symbol;Acc:MGI:3030357]|Heterozygous||T|C|132|35.0|Non-synonymous|Alive, Line Propagating
6499284|IGL01288|16|93739293|I->T|0.27|Benign|MGI:1917278|Dopey2|dopey family member 2 [Source:MGI Symbol;Acc:MGI:1917278]|Heterozygous||T|C|109|40.0|Non-synonymous|Alive, Line Propagating
6499285|IGL01288|12|78894953|D->G|0.04|Benign|MGI:1351466|Plek2|pleckstrin 2 [Source:MGI Symbol;Acc:MGI:1351466]|Heterozygous||T|C|105|39.0|Non-synonymous|Alive, Line Propagating
6499286|IGL01288|2|165812814|S->C|||MGI:1918025|Zmynd8|zinc finger, MYND-type containing 8 [Source:MGI Symbol;Acc:MGI:1918025]|Heterozygous||T|A|90|37.0|Non-synonymous|Alive, Line Propagating
6499287|IGL01288|1|58294407|Y->C|0.99|Probably damaging|MGI:3529596|Aox3l1|aldehyde oxidase 3-like 1 [Source:MGI Symbol;Acc:MGI:3529596]|Heterozygous||A|G|86|37.0|Non-synonymous|Alive, Line Propagating
6499288|IGL01288|6|30640583|V->M|1.0|Probably damaging|MGI:88478|Cpa1|carboxypeptidase A1, pancreatic [Source:MGI Symbol;Acc:MGI:88478]|Heterozygous|Mice homozygous for a knock-in allele are viable and fertile.|G|A|85|40.0|Non-synonymous|Alive, Line Propagating
6499289|IGL01288|15|58899179|R->H|1.0|Probably damaging|MGI:1923091, MGI:1916944|Rnf139,tatdn1|TatD DNase domain containing 1 [Source:MGI Symbol;Acc:MGI:1916944],ring finger protein 139 [Source:MGI Symbol;Acc:MGI:1923091]|Heterozygous||G|A|84|39.5|Non-synonymous|Alive, Line Propagating
6499290|IGL01288|12|31886206|T->I|0.01|Benign|MGI:2145130|Cog5|component of oligomeric golgi complex 5 [Source:MGI Symbol;Acc:MGI:2145130]|Heterozygous||C|T|76|39.5|Non-synonymous|Alive, Line Propagating
6499291|IGL01288|15|66736276|V->L|0.18|Benign|MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|G|T|72|40.0|Non-synonymous|Alive, Line Propagating
6499292|IGL01288|10|118860699|Y->C|1.0|Probably damaging|MGI:1330301|Dyrk2|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 [Source:MGI Symbol;Acc:MGI:1330301]|Heterozygous||T|C|69|38.0|Non-synonymous|Alive, Line Propagating
6499293|IGL01288|7|31069043|E->G|0.81|Possibly damaging|MGI:2180197|Lgi4|leucine-rich repeat LGI family, member 4 [Source:MGI Symbol;Acc:MGI:2180197]|Heterozygous|Homozygous mutant animals have an abnormal posture where the forelimbs are flexed and rotated inwards. The peripheral nervous system is delayed in myelination.|A|G|69|39.0|Non-synonymous|Alive, Line Propagating
6499294|IGL01288|7|118691640|V->D|0.06|Benign|MGI:1891827|Gde1|glycerophosphodiester phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:1891827]|Heterozygous||A|T|67|36.0|Non-synonymous|Alive, Line Propagating
6499295|IGL01288|7|102670651|T->A|1.0|Probably damaging|MGI:3030390|Olfr556|olfactory receptor 556 [Source:MGI Symbol;Acc:MGI:3030390]|Heterozygous||A|G|64|38.0|Non-synonymous|Alive, Line Propagating
6499296|IGL01288|8|33571384|H->Y|||MGI:1934816|Tex15|testis expressed gene 15 [Source:MGI Symbol;Acc:MGI:1934816]|Heterozygous|Male mice are infertile due to arrest of meiosis stemming from failure to repair double-strand breaks. However, female mice are fertile.|C|T|60|38.0|Non-synonymous|Alive, Line Propagating
6499297|IGL01288|1|10213211|A->T|||MGI:2442988|Arfgef1|ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2442988]|Heterozygous||C|T|58|39.0|Non-synonymous|Alive, Line Propagating
6499298|IGL01288|15|98865044|P->T|||MGI:2682319|Mll2|myeloid/lymphoid or mixed-lineage leukemia 2 [Source:MGI Symbol;Acc:MGI:2682319]|Heterozygous||G|T|58|38.5|Non-synonymous|Alive, Line Propagating
6499299|IGL01288|1|172257907|E->G|0.26|Benign|MGI:1351335|Atp1a4|ATPase, Na+/K+ transporting, alpha 4 polypeptide [Source:MGI Symbol;Acc:MGI:1351335]|Heterozygous|Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia.|T|C|53|39.0|Non-synonymous|Alive, Line Propagating
6499300|IGL01288|2|89303472|V->E|0.86|Possibly damaging|MGI:3031065|Olfr1231|olfactory receptor 1231 [Source:MGI Symbol;Acc:MGI:3031065]|Heterozygous||A|T|53|39.0|Non-synonymous|Alive, Line Propagating
6499301|IGL01288|10|127665109|R->Q|1.0|Probably damaging|MGI:107563|Nab2|Ngfi-A binding protein 2 [Source:MGI Symbol;Acc:MGI:107563]|Heterozygous|Homozygous null mice are viable and fertile with normal myelination.|C|T|52|38.0|Non-synonymous|Alive, Line Propagating
6499302|IGL01288|1|136172184|T->M|||MGI:109234|Kif21b|kinesin family member 21B [Source:MGI Symbol;Acc:MGI:109234]|Heterozygous||C|T|49|38.0|Non-synonymous|Alive, Line Propagating
6499303|IGL01288|1|58992301|H->N|0.16|Benign|MGI:2144047|Stradb|STE20-related kinase adaptor beta [Source:MGI Symbol;Acc:MGI:2144047]|Heterozygous||C|A|48|39.0|Non-synonymous|Alive, Line Propagating
6499304|IGL01288|1|78699759|W->L|0.4|Benign|MGI:1921455|Acsl3|acyl-CoA synthetase long-chain family member 3 [Source:MGI Symbol;Acc:MGI:1921455]|Heterozygous||G|T|48|39.0|Non-synonymous|Alive, Line Propagating
6499305|IGL01288|2|86988254|M->I||Benign|MGI:3030935|Olfr1101|olfactory receptor 1101 [Source:MGI Symbol;Acc:MGI:3030935]|Heterozygous||C|A|46|40.0|Non-synonymous|Alive, Line Propagating
6499306|IGL01288|2|76564823|S->P|||MGI:2139014|Osbpl6|oxysterol binding protein-like 6 [Source:MGI Symbol;Acc:MGI:2139014]|Heterozygous||T|C|44|38.5|Non-synonymous|Alive, Line Propagating
6499307|IGL01288|4|32730864|D->G|||MGI:1926159|Mdn1|midasin homolog (yeast) [Source:MGI Symbol;Acc:MGI:1926159]|Heterozygous||A|G|41|36.0|Non-synonymous|Alive, Line Propagating
6499308|IGL01288|1|73953810|T->S|0.56|Possibly damaging|MGI:104552|Tns1|tensin 1 [Source:MGI Symbol;Acc:MGI:104552]|Heterozygous|Homozygous null mice become frail and develop cystic kidneys after several months of life. Progressive cyst formation led to kidney degeneration and death from renal failure.|T|A|39|36.0|Non-synonymous|Alive, Line Propagating
6499309|IGL01288|14|34259643|Y->N|0.98|Probably damaging|MGI:1922948|Fam35a|family with sequence similarity 35, member A [Source:MGI Symbol;Acc:MGI:1922948]|Heterozygous||A|T|39|39.0|Non-synonymous|Alive, Line Propagating
6499310|IGL01288|8|22803915|T->A||Benign|MGI:1929214|Ap3m2|adaptor-related protein complex 3, mu 2 subunit [Source:MGI Symbol;Acc:MGI:1929214]|Heterozygous|Homozygous null mice suffer from spontaneous recurrent epileptic seizures, are more susceptible to drug-induced seizures and show impaired GABA release, fewer synaptic vesicles, enhanced long-term potentiation, and abnormal propagation of neuronal excitability via the temporoammonic pathway.|T|C|39|37.0|Non-synonymous|Alive, Line Propagating
6499311|IGL01288|6|58956727|Y->H|1.0|Probably damaging|MGI:1889842|Fam13a|family with sequence similarity 13, member A [Source:MGI Symbol;Acc:MGI:1889842]|Heterozygous||A|G|36|37.5|Non-synonymous|Alive, Line Propagating
6499312|IGL01288|12|3982865|Y->C|0.83|Possibly damaging|MGI:2444851|Efr3b|EFR3 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2444851]|Heterozygous||T|C|35|38.0|Non-synonymous|Alive, Line Propagating
6499313|IGL01288|1|133094805|H->Y|1.0|Probably damaging|MGI:2685045|Pik3c2b|phosphoinositide-3-kinase, class 2, beta polypeptide [Source:MGI Symbol;Acc:MGI:2685045]|Heterozygous||C|T|32|37.5|Non-synonymous|Alive, Line Propagating
6499314|IGL01288|7|130772205|W->L||Unknown|MGI:2149837|Etos1|ectopic ossification 1 [Source:MGI Symbol;Acc:MGI:2149837]|Heterozygous||C|A|23|39.0|Non-synonymous|Alive, Line Propagating
6499315|IGL01288|19|9002494|I->V||Benign|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|A|G|20|38.5|Non-synonymous|Alive, Line Propagating
6499316|IGL01288|19|34079035|E->D||Benign|MGI:1917416|Lipn|lipase, family member N [Source:MGI Symbol;Acc:MGI:1917416]|Heterozygous||A|C|16|39.0|Non-synonymous|Alive, Line Propagating
6499317|IGL01288|2|24159913|I->L||Benign|MGI:1916927|Il1f8|interleukin 1 family, member 8 [Source:MGI Symbol;Acc:MGI:1916927]|Heterozygous||A|T|16|36.0|Non-synonymous|Alive, Line Propagating
6499319|IGL01288|7|109539822|I->T|0.66|Possibly damaging|MGI:108517|St5|suppression of tumorigenicity 5 [Source:MGI Symbol;Acc:MGI:108517]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive, Line Propagating
6499320|IGL01288|9|52117651|Disrupted splicing|||MGI:3026959|Zc3h12c|zinc finger CCCH type containing 12C [Source:MGI Symbol;Acc:MGI:3026959]|Heterozygous||A|G|55|39.0|Splice|Alive, Line Propagating
6499321|IGL01288|5|101901991|Disrupted splicing|||MGI:1096875|Wdfy3|WD repeat and FYVE domain containing 3 [Source:MGI Symbol;Acc:MGI:1096875]|Heterozygous||G|T|40|40.0|Splice|Alive, Line Propagating
6499322|IGL01288|5|137330938|Disrupted splicing|||MGI:1933532|Slc12a9|solute carrier family 12 (potassium/chloride transporters), member 9 [Source:MGI Symbol;Acc:MGI:1933532]|Heterozygous||C|T|32|37.5|Splice|Alive, Line Propagating
6499323|IGL01288|X|151547925|Disrupted splicing|||MGI:2444341|Phf8|PHD finger protein 8 [Source:MGI Symbol;Acc:MGI:2444341]|Heterozygous||T|C|32|40.0|Splice|Alive, Line Propagating
6499324|IGL01288|17|46657807|Disrupted splicing|||MGI:1913765|Cul7|cullin 7 [Source:MGI Symbol;Acc:MGI:1913765]|Heterozygous|During late gestation, homozygous null fetuses display reduced growth associated with abnormal placental development and hemorrhaging due to vascular defects. Mutant mice are born but die shortly after birth, succumbing to respiratory distress.|A|G|23|39.0|Splice|Alive, Line Propagating
6499325|IGL01288|8|122780642|Disrupted splicing|||MGI:5141853, MGI:2182591|Acsf3,gm20388|predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853],acyl-CoA synthetase family member 3 [Source:MGI Symbol;Acc:MGI:2182591]|Heterozygous||G|T|13|38.0|Splice|Alive, Line Propagating
6499952|IGL01289|5|105017869|A->V|0.01|Benign|MGI:1923324|Gbp8|guanylate-binding protein 8 [Source:MGI Symbol;Acc:MGI:1923324]|Heterozygous||G|A|300|38.0|Non-synonymous|Alive
6499953|IGL01289|3|30650393|L->Q|1.0|Probably damaging|MGI:1915557|Lrriq4|leucine-rich repeats and IQ motif containing 4 [Source:MGI Symbol;Acc:MGI:1915557]|Heterozygous||T|A|107|39.0|Non-synonymous|Alive
6499954|IGL01289|6|83523175|M->K|0.1|Benign|MGI:104589|Actg2|actin, gamma 2, smooth muscle, enteric [Source:MGI Symbol;Acc:MGI:104589]|Heterozygous||A|T|68|38.0|Non-synonymous|Alive
6499955|IGL01289|3|83031245|Y->C|0.42|Benign|MGI:1316726|Fga|fibrinogen alpha chain [Source:MGI Symbol;Acc:MGI:1316726]|Heterozygous|Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging.|A|G|65|36.0|Non-synonymous|Alive
6499956|IGL01289|7|112063358|V->F|0.99|Probably damaging|MGI:1922246|Usp47|ubiquitin specific peptidase 47 [Source:MGI Symbol;Acc:MGI:1922246]|Heterozygous|Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.|G|T|58|40.0|Non-synonymous|Alive
6499957|IGL01289|2|25236247|D->E|1.0|Probably damaging|MGI:2685603|Gm757|predicted gene 757 [Source:MGI Symbol;Acc:MGI:2685603]|Heterozygous||G|T|57|37.0|Non-synonymous|Alive
6499958|IGL01289|7|80260439|C->S|0.04|Benign|MGI:1920845|Ttll13|tubulin tyrosine ligase-like family, member 13 [Source:MGI Symbol;Acc:MGI:1920845]|Heterozygous||T|A|56|40.0|Non-synonymous|Alive
6499959|IGL01289|2|89482847|M->T|0.92|Possibly damaging|MGI:3031075|Olfr1241|olfactory receptor 1241 [Source:MGI Symbol;Acc:MGI:3031075]|Heterozygous||A|G|53|40.0|Non-synonymous|Alive
6499960|IGL01289|8|66681866|N->Y|0.21|Benign|MGI:108082|Npy5r|neuropeptide Y receptor Y5 [Source:MGI Symbol;Acc:MGI:108082]|Heterozygous||T|A|51|40.0|Non-synonymous|Alive
6499961|IGL01289|8|12639625|L->P|1.0|Probably damaging|MGI:2183752|Tubgcp3|tubulin, gamma complex associated protein 3 [Source:MGI Symbol;Acc:MGI:2183752]|Heterozygous||A|G|47|40.0|Non-synonymous|Alive
6499962|IGL01289|13|114986226|I->M|0.91|Possibly damaging|MGI:96599|Itga1|integrin alpha 1 [Source:MGI Symbol;Acc:MGI:96599]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury.|T|C|45|39.0|Non-synonymous|Alive
6499963|IGL01289|14|59691461|A->V||Benign|MGI:1354710|Atp8a2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 [Source:MGI Symbol;Acc:MGI:1354710]|Heterozygous||G|A|38|37.0|Non-synonymous|Alive
6499964|IGL01289|7|131138621|M->L|0.08|Benign|MGI:1914681|4933402n03rik|RIKEN cDNA 4933402N03 gene [Source:MGI Symbol;Acc:MGI:1914681]|Heterozygous||T|A|38|39.0|Non-synonymous|Alive
6499965|IGL01289|6|146112535|K->Stop||N/A|MGI:99418|Itpr2|inositol 1,4,5-triphosphate receptor 2 [Source:MGI Symbol;Acc:MGI:99418]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile with no apparent abnormalities in pancreatic and salivary secretion. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.|T|A|35|36.0|Non-synonymous|Alive
6499966|IGL01289|11|46679672|E->G||Benign|MGI:2159681|Timd2|T cell immunoglobulin and mucin domain containing 2 [Source:MGI Symbol;Acc:MGI:2159681]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated inflammatory response.|T|C|34|40.0|Non-synonymous|Alive
6499967|IGL01289|7|64400318|F->I|0.12|Benign|MGI:1920974|Mcee|methylmalonyl CoA epimerase [Source:MGI Symbol;Acc:MGI:1920974]|Heterozygous||T|A|34|39.0|Non-synonymous|Alive
6499969|IGL01289|16|96643882|Y->Stop||N/A|MGI:1196281|Dscam|Down syndrome cell adhesion molecule [Source:MGI Symbol;Acc:MGI:1196281]|Heterozygous|Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia.|A|T|31|38.0|Non-synonymous|Alive
6499970|IGL01289|16|16484303|N->K|0.95|Probably damaging|MGI:2183747|Fgd4|FYVE, RhoGEF and PH domain containing 4 [Source:MGI Symbol;Acc:MGI:2183747]|Heterozygous||A|T|30|40.0|Non-synonymous|Alive
6499971|IGL01289|17|27099765|M->K|0.99|Probably damaging|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|T|A|28|40.0|Non-synonymous|Alive
6499972|IGL01289|7|127033473|V->A|0.87|Possibly damaging|MGI:109233|Kif22|kinesin family member 22 [Source:MGI Symbol;Acc:MGI:109233]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality prior to implantation due to defective meiosis II and early embryo mitosis.|A|G|27|38.0|Non-synonymous|Alive
6499973|IGL01289|18|11944564|V->A|0.99|Probably damaging|MGI:1927065|Cables1|CDK5 and Abl enzyme substrate 1 [Source:MGI Symbol;Acc:MGI:1927065]|Heterozygous|Homozygous null females exhibited reduced fertility and uterine hyperplasia that, with chronic exposure to estrogen, would advance to endometrial adenocarcinoma.|T|C|25|39.0|Non-synonymous|Alive
6499974|IGL01289|2|67513181|N->I|1.0|Probably damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||A|T|23|39.0|Non-synonymous|Alive
6499975|IGL01289|3|69724287|S->R|0.16|Benign|MGI:2140103|Nmd3|NMD3 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2140103]|Heterozygous||T|G|23|40.0|Non-synonymous|Alive
6499976|IGL01289|6|57598623|G->R|1.0|Probably damaging|MGI:1914388|Herc6|hect domain and RLD 6 [Source:MGI Symbol;Acc:MGI:1914388]|Heterozygous||G|A|23|39.0|Non-synonymous|Alive
6499977|IGL01289|15|31276864|M->K|0.44|Possibly damaging|MGI:3648078|Fam136b-ps|family with sequence similarity 136, member B, pseudogene [Source:MGI Symbol;Acc:MGI:3648078]|Heterozygous||T|A|21|36.0|Non-synonymous|Alive
6499978|IGL01289|5|21560901|F->S|1.0|Probably damaging|MGI:1921761, MGI:2443416|Lrrc17,fbxl13|leucine rich repeat containing 17 [Source:MGI Symbol;Acc:MGI:1921761],F-box and leucine-rich repeat protein 13 [Source:MGI Symbol;Acc:MGI:2443416]|Heterozygous|Mice homozygous for a targeted allele exhibit normal phenotype.,NO_PHENOTYPE|T|C|19|38.0|Non-synonymous|Alive
6499979|IGL01289|5|93273417|K->R|1.0|Probably damaging|MGI:1095734|Ccng2|cyclin G2 [Source:MGI Symbol;Acc:MGI:1095734]|Heterozygous||A|G|18|39.5|Non-synonymous|Alive
6499980|IGL01289|10|24902121|F->S|1.0|Probably damaging|MGI:1917458|Med23|mediator complex subunit 23 [Source:MGI Symbol;Acc:MGI:1917458]|Heterozygous||T|C|17|38.0|Non-synonymous|Alive
6499981|IGL01289|13|14264134|Y->C|1.0|Probably damaging|MGI:2444115|Hecw1|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:2444115]|Heterozygous||T|C|17|39.0|Non-synonymous|Alive
6499982|IGL01289|19|4878822|W->L|0.88|Possibly damaging|MGI:1917855|Zdhhc24|zinc finger, DHHC domain containing 24 [Source:MGI Symbol;Acc:MGI:1917855]|Heterozygous||G|T|14|34.5|Non-synonymous|Alive
6499983|IGL01289|4|34716469|S->I|0.86|Possibly damaging|MGI:1916579|1700003m02rik|RIKEN cDNA 1700003M02 gene [Source:MGI Symbol;Acc:MGI:1916579]|Heterozygous||C|A|12|38.5|Non-synonymous|Alive
6500592|IGL01290|8|80727648|S->P||Benign|MGI:1935129|Smarca5|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Source:MGI Symbol;Acc:MGI:1935129]|Heterozygous|Homozygous mutant mice die during early embryonic development.|A|G|262|40.0|Non-synonymous|Alive, Line Propagating
6500593|IGL01290|8|113774943|E->D|1.0|Probably damaging|MGI:2442600|Adamts18|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18 [Source:MGI Symbol;Acc:MGI:2442600]|Heterozygous||T|A|171|40.0|Non-synonymous|Alive, Line Propagating
6500594|IGL01290|19|41938048|L->Q|1.0|Probably damaging|MGI:1921418|Zdhhc16|zinc finger, DHHC domain containing 16 [Source:MGI Symbol;Acc:MGI:1921418]|Heterozygous||T|A|107|37.0|Non-synonymous|Alive, Line Propagating
6500595|IGL01290|6|76882560|D->G|0.41|Benign|MGI:88275|Ctnna2|catenin (cadherin associated protein), alpha 2 [Source:MGI Symbol;Acc:MGI:88275]|Heterozygous|Animals homozygous for a mutation of this gene exhibit ataxia, reduced body weight, reduced male fertility, and abnormalities of the brain which include a hypoplastic cerebellum, abnormal foliation pattern, ectopic Purkinje cells, and abnormal pyramidal cells in the hippocampus.|T|C|85|39.0|Non-synonymous|Alive, Line Propagating
6500596|IGL01290|15|58898326|I->V||Benign|MGI:1916944, MGI:1923091|Rnf139,tatdn1|TatD DNase domain containing 1 [Source:MGI Symbol;Acc:MGI:1916944],ring finger protein 139 [Source:MGI Symbol;Acc:MGI:1923091]|Heterozygous||A|G|67|39.0|Non-synonymous|Alive, Line Propagating
6500597|IGL01290|6|28430506|V->A|0.96|Probably damaging|MGI:1890386|Fscn3|fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) [Source:MGI Symbol;Acc:MGI:1890386]|Heterozygous||T|C|57|39.0|Non-synonymous|Alive, Line Propagating
6500598|IGL01290|4|128617837|S->A|1.0|Probably damaging|MGI:3045221|Tlr12|toll-like receptor 12 [Source:MGI Symbol;Acc:MGI:3045221]|Heterozygous||A|C|37|39.0|Non-synonymous|Alive, Line Propagating
6500599|IGL01290|7|35548076|S->P|0.91|Possibly damaging|MGI:94203|Nudt19|nudix (nucleoside diphosphate linked moiety X)-type motif 19 [Source:MGI Symbol;Acc:MGI:94203]|Heterozygous||A|G|35|40.0|Non-synonymous|Alive, Line Propagating
6500600|IGL01290|7|79598594|F->L||Benign|MGI:1888517|Rhcg|Rhesus blood group-associated C glycoprotein [Source:MGI Symbol;Acc:MGI:1888517]|Heterozygous|Mice homozygous for a null allele have reduced ability to excrete ammonium in their urine and have reduced male fertility.|A|G|35|40.0|Non-synonymous|Alive, Line Propagating
6500601|IGL01290|11|96284267|I->V|0.98|Probably damaging|MGI:96189|Hoxb8|homeobox B8 [Source:MGI Symbol;Acc:MGI:96189]|Heterozygous|Most homozygotes for targeted null mutations exhibit delayed preweaning growth, degeneration of the second spinal ganglion, axial skeletal defects, impaired clasping, an altered gait, and excessive grooming.|A|G|32|37.5|Non-synonymous|Alive, Line Propagating
6500602|IGL01290|15|54919602|T->A||Benign|MGI:1321390|Enpp2|ectonucleotide pyrophosphatase/phosphodiesterase 2 [Source:MGI Symbol;Acc:MGI:1321390]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.|T|C|32|37.0|Non-synonymous|Alive, Line Propagating
6500603|IGL01290|19|56361748|D->G|1.0|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||T|C|28|40.0|Non-synonymous|Alive, Line Propagating
6500604|IGL01290|6|46015465|T->I|0.01|Benign|MGI:1914047|Cntnap2|contactin associated protein-like 2 [Source:MGI Symbol;Acc:MGI:1914047]|Heterozygous|Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.|C|T|27|37.0|Non-synonymous|Alive, Line Propagating
6500605|IGL01290|15|55423507|A->V||Unknown|MGI:1341272|Col14a1|collagen, type XIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1341272]|Heterozygous|Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons.|C|T|25|40.0|Non-synonymous|Alive, Line Propagating
6500606|IGL01290|14|123966725|E->D|0.98|Probably damaging|MGI:2443439|Itgbl1|integrin, beta-like 1 [Source:MGI Symbol;Acc:MGI:2443439]|Heterozygous||A|T|24|38.0|Non-synonymous|Alive, Line Propagating
6500607|IGL01290|18|52332113|N->S|1.0|Probably damaging|MGI:1914884|Ftmt|ferritin mitochondrial [Source:MGI Symbol;Acc:MGI:1914884]|Heterozygous|Mice homozygous for a knock-out allele do not exhibit any overt phenotype.|A|G|24|36.5|Non-synonymous|Alive, Line Propagating
6500608|IGL01290|6|100750447|Y->C|0.97|Probably damaging|MGI:2682940|Gxylt2|glucoside xylosyltransferase 2 [Source:MGI Symbol;Acc:MGI:2682940]|Heterozygous||A|G|24|38.0|Non-synonymous|Alive, Line Propagating
6500609|IGL01290|11|9023341|G->S|0.95|Probably damaging|MGI:3041199|Sun3|Sad1 and UNC84 domain containing 3 [Source:MGI Symbol;Acc:MGI:3041199]|Heterozygous||C|T|23|41.0|Non-synonymous|Alive, Line Propagating
6500610|IGL01290|18|67211098|D->G|1.0|Probably damaging|MGI:95774|Gnal|guanine nucleotide binding protein, alpha stimulating, olfactory type [Source:MGI Symbol;Acc:MGI:95774]|Heterozygous|Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors.|A|G|20|37.0|Non-synonymous|Alive, Line Propagating
6500611|IGL01290|11|83440795|H->R|0.71|Possibly damaging|MGI:1913580|1700020l24rik|RIKEN cDNA 1700020L24 gene [Source:MGI Symbol;Acc:MGI:1913580]|Heterozygous||A|G|19|38.0|Non-synonymous|Alive, Line Propagating
6500612|IGL01290|11|9256232|H->Q|0.99|Probably damaging|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive, Line Propagating
6500613|IGL01290|7|25349658|R->Stop||N/A|MGI:2446294|Megf8|multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]|Heterozygous||C|T|15|37.0|Non-synonymous|Alive, Line Propagating
6500614|IGL01290|15|99739655|R->Stop||N/A|MGI:1919199|Lass5|LAG1 homolog, ceramide synthase 5 [Source:MGI Symbol;Acc:MGI:1919199]|Heterozygous||G|A|12|39.0|Non-synonymous|Alive, Line Propagating
6500615|IGL01290|5|16604846|D->N|1.0|Probably damaging|MGI:96079|Hgf|hepatocyte growth factor [Source:MGI Symbol;Acc:MGI:96079]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality.|G|A|11|39.0|Non-synonymous|Alive, Line Propagating
6500616|IGL01290|4|16139198|Disrupted splicing|||MGI:1891456|Ripk2|receptor (TNFRSF)-interacting serine-threonine kinase 2 [Source:MGI Symbol;Acc:MGI:1891456]|Heterozygous||T|C|66|39.0|Splice|Alive, Line Propagating
6500618|IGL01290|19|30039301|Disrupted splicing|||MGI:1923718|Uhrf2|ubiquitin-like, containing PHD and RING finger domains 2 [Source:MGI Symbol;Acc:MGI:1923718]|Heterozygous||T|A|20|40.0|Splice|Alive, Line Propagating
6501228|IGL01291|2|162970180|V->A|0.07|Benign|MGI:2676663|L3mbtl1|l(3)mbt-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2676663]|Heterozygous||T|C|265|37.0|Non-synonymous|Alive, Line Propagating
6501229|IGL01291|2|86509169|A->T|0.57|Possibly damaging|MGI:3030910|Olfr1076|olfactory receptor 1076 [Source:MGI Symbol;Acc:MGI:3030910]|Heterozygous||G|A|91|39.0|Non-synonymous|Alive, Line Propagating
6501230|IGL01291|8|104630651|E->G||Benign|MGI:1930943|Rrad|Ras-related associated with diabetes [Source:MGI Symbol;Acc:MGI:1930943]|Heterozygous|Mice homozygous for a knock-out allele are more susceptible to pressure overload-induced cardiac hypertrophy and display weaker left ventricular contractility than control mice at higher doses of dobutamine.|T|C|81|36.0|Non-synonymous|Alive, Line Propagating
6501231|IGL01291|10|14410530|A->V|0.96|Probably damaging|MGI:1916151|Gpr126|G protein-coupled receptor 126 [Source:MGI Symbol;Acc:MGI:1916151]|Heterozygous|Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure.|G|A|79|39.0|Non-synonymous|Alive, Line Propagating
6501232|IGL01291|8|71712547|L->Q|0.7|Possibly damaging|MGI:1921265|Fcho1|FCH domain only 1 [Source:MGI Symbol;Acc:MGI:1921265]|Heterozygous||A|T|76|33.5|Non-synonymous|Alive, Line Propagating
6501233|IGL01291|3|87733174|W->R|0.18|Benign|MGI:2441869|Arhgef11|Rho guanine nucleotide exchange factor (GEF) 11 [Source:MGI Symbol;Acc:MGI:2441869]|Heterozygous||T|C|73|39.0|Non-synonymous|Alive, Line Propagating
6501234|IGL01291|3|116772789|I->T|||MGI:1924809|Agl|amylo-1,6-glucosidase, 4-alpha-glucanotransferase [Source:MGI Symbol;Acc:MGI:1924809]|Heterozygous||A|G|73|39.0|Non-synonymous|Alive, Line Propagating
6501235|IGL01291|7|41864511|H->L|||MGI:3647877|Vmn2r58|vomeronasal 2, receptor 58 [Source:MGI Symbol;Acc:MGI:3647877]|Heterozygous||T|A|69|41.0|Non-synonymous|Alive, Line Propagating
6501236|IGL01291|1|92919746|D->V|||MGI:1914170|Rnpepl1|arginyl aminopeptidase (aminopeptidase B)-like 1 [Source:MGI Symbol;Acc:MGI:1914170]|Heterozygous||A|T|67|35.0|Non-synonymous|Alive, Line Propagating
6501237|IGL01291|3|134930049|Y->F|1.0|Probably damaging|MGI:892968|Tacr3|tachykinin receptor 3 [Source:MGI Symbol;Acc:MGI:892968]|Heterozygous||A|T|61|39.0|Non-synonymous|Alive, Line Propagating
6501238|IGL01291|7|13102506|M->V|||MGI:4438438|Vmn1r86|vomeronasal 1 receptor 86 [Source:MGI Symbol;Acc:MGI:4438438]|Heterozygous||T|C|61|40.0|Non-synonymous|Alive, Line Propagating
6501239|IGL01291|13|59758971|T->A|0.01|Benign|MGI:1916296|Isca1|iron-sulfur cluster assembly 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1916296]|Heterozygous||T|C|59|39.0|Non-synonymous|Alive, Line Propagating
6501240|IGL01291|17|34209210|Q->L|0.37|Benign|MGI:98484|Tap2|transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) [Source:MGI Symbol;Acc:MGI:98484]|Heterozygous|Homozygous mutant mice have no CD8+ T cells, although their numbers of CD4+ T cells and B cells are normal.|A|T|59|37.0|Non-synonymous|Alive, Line Propagating
6501241|IGL01291|4|154974646|M->T|0.8|Possibly damaging|MGI:2387466|Pank4|pantothenate kinase 4 [Source:MGI Symbol;Acc:MGI:2387466]|Heterozygous||T|C|59|36.0|Non-synonymous|Alive, Line Propagating
6501242|IGL01291|12|110649104|Y->S|0.4|Benign|MGI:103147|Dync1h1|dynein cytoplasmic 1 heavy chain 1 [Source:MGI Symbol;Acc:MGI:103147]|Heterozygous|Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.|A|C|56|38.0|Non-synonymous|Alive, Line Propagating
6501243|IGL01291|5|116467569|E->K|1.0|Probably damaging|MGI:1916205|Srrm4|serine/arginine repetitive matrix 4 [Source:MGI Symbol;Acc:MGI:1916205]|Heterozygous||C|T|53|37.0|Non-synonymous|Alive, Line Propagating
6501244|IGL01291|13|73267667|T->A|1.0|Probably damaging|MGI:1355275|Irx4|Iroquois related homeobox 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1355275]|Heterozygous|Homozygotes for a targeted null mutation exhibit abnormal ventricular gene expression followed by cardiomyopathy with hypertrophy and impaired contractile function.|A|G|50|35.0|Non-synonymous|Alive, Line Propagating
6501245|IGL01291|2|80624274|T->A|0.13|Benign|MGI:1915332|Dusp19|dual specificity phosphatase 19 [Source:MGI Symbol;Acc:MGI:1915332]|Heterozygous||A|G|50|39.0|Non-synonymous|Alive, Line Propagating
6501246|IGL01291|17|26016113|T->A|0.13|Benign|MGI:2444431|Rab11fip3|RAB11 family interacting protein 3 (class II) [Source:MGI Symbol;Acc:MGI:2444431]|Heterozygous||T|C|46|39.0|Non-synonymous|Alive, Line Propagating
6501247|IGL01291|5|114225870|F->Y|0.02|Benign|MGI:2140940|Acacb|acetyl-Coenzyme A carboxylase beta [Source:MGI Symbol;Acc:MGI:2140940]|Heterozygous|Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver.|T|A|45|38.0|Non-synonymous|Alive, Line Propagating
6501248|IGL01291|9|65278983|S->P|0.01|Benign|MGI:2444507|Cilp|cartilage intermediate layer protein, nucleotide pyrophosphohydrolase [Source:MGI Symbol;Acc:MGI:2444507]|Heterozygous||T|C|41|39.0|Non-synonymous|Alive, Line Propagating
6501249|IGL01291|17|67738870|D->N|||MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|G|A|40|37.0|Non-synonymous|Alive, Line Propagating
6501250|IGL01291|10|62756649|E->V||Unknown|MGI:1914750|Ccar1|cell division cycle and apoptosis regulator 1 [Source:MGI Symbol;Acc:MGI:1914750]|Heterozygous||T|A|39|39.0|Non-synonymous|Alive, Line Propagating
6501251|IGL01291|6|49055681|V->A|0.01|Benign|MGI:1934765|Gpnmb|glycoprotein (transmembrane) nmb [Source:MGI Symbol;Acc:MGI:1934765]|Heterozygous|Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.|T|C|32|39.0|Non-synonymous|Alive, Line Propagating
6501252|IGL01291|6|122312259|R->G|1.0|Probably damaging|MGI:96904|M6pr|mannose-6-phosphate receptor, cation dependent [Source:MGI Symbol;Acc:MGI:96904]|Heterozygous|Mice homozygous for disruptions in this gene are fertile and display no visible phenotypic abnormalities; however, serum levels of lysosomal enzymes are elevated.|A|G|32|40.0|Non-synonymous|Alive, Line Propagating
6501253|IGL01291|18|13817246|H->R|1.0|Probably damaging|MGI:95459|Zfp521|zinc finger protein 521 [Source:MGI Symbol;Acc:MGI:95459]|Heterozygous|Mice homozygous for a conditional allele activated in chondrocytes exhibit postnatal growth retardation, dwarfism, premature bone mineralization, reduced chondrocyte proliferation, and increased chondrocyte apoptosis.|T|C|30|36.0|Non-synonymous|Alive, Line Propagating
6501254|IGL01291|5|104094715|V->E|0.89|Possibly damaging|MGI:108110|Sparcl1|SPARC-like 1 [Source:MGI Symbol;Acc:MGI:108110]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal histology and survival.|A|T|30|36.5|Non-synonymous|Alive, Line Propagating
6501255|IGL01291|7|55808529|A->E|0.48|Possibly damaging|MGI:2178836|Tubgcp5|tubulin, gamma complex associated protein 5 [Source:MGI Symbol;Acc:MGI:2178836]|Heterozygous||C|A|30|39.5|Non-synonymous|Alive, Line Propagating
6501256|IGL01291|2|62690443|Y->Stop||N/A|MGI:1918521|Gca|grancalcin [Source:MGI Symbol;Acc:MGI:1918521]|Heterozygous|Mice homozygous for disruptions in this gene are essentially normal. However they do demonstrate an increased resistance to endotoxic shock.|T|A|29|40.0|Non-synonymous|Alive, Line Propagating
6501257|IGL01291|1|90802292|T->I|||MGI:88461|Col6a3|collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]|Heterozygous||G|A|28|38.5|Non-synonymous|Alive, Line Propagating
6501258|IGL01291|12|83555005|F->I|0.07|Benign|MGI:3026685|Zfyve1|zinc finger, FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:3026685]|Heterozygous||A|T|27|36.0|Non-synonymous|Alive, Line Propagating
6501259|IGL01291|11|113843080|M->L||Benign|MGI:2443847|Sdk2|sidekick homolog 2 (chicken) [Source:MGI Symbol;Acc:MGI:2443847]|Heterozygous||T|A|23|39.0|Non-synonymous|Alive, Line Propagating
6501260|IGL01291|10|115478534|H->R|1.0|Probably damaging|MGI:1341817|Lgr5|leucine rich repeat containing G protein coupled receptor 5 [Source:MGI Symbol;Acc:MGI:1341817]|Heterozygous|Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure.|T|C|22|37.0|Non-synonymous|Alive, Line Propagating
6501261|IGL01291|1|93623423|M->K||Benign|MGI:1891699|Stk25|serine/threonine kinase 25 (yeast) [Source:MGI Symbol;Acc:MGI:1891699]|Heterozygous||A|T|20|38.0|Non-synonymous|Alive, Line Propagating
6501262|IGL01291|19|46314747|V->A|0.42|Benign|MGI:1920978|Psd|pleckstrin and Sec7 domain containing [Source:MGI Symbol;Acc:MGI:1920978]|Heterozygous||A|G|18|35.5|Non-synonymous|Alive, Line Propagating
6501263|IGL01291|11|116540134|D->G|1.0|Probably damaging|MGI:2444266|Ube2o|ubiquitin-conjugating enzyme E2O [Source:MGI Symbol;Acc:MGI:2444266]|Heterozygous||T|C|10|39.0|Non-synonymous|Alive, Line Propagating
6501264|IGL01291|7|17905116|I->K|0.97|Probably damaging|MGI:3647191|Gm5155|predicted gene 5155 [Source:MGI Symbol;Acc:MGI:3647191]|Heterozygous||T|A|10|39.0|Non-synonymous|Alive, Line Propagating
6501266|IGL01291|13|14009740|Disrupted splicing|||MGI:1917680|Tbce|tubulin-specific chaperone E [Source:MGI Symbol;Acc:MGI:1917680]|Heterozygous|Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected.|A|T|24|40.0|Splice|Alive, Line Propagating
6501267|IGL01291|2|27971444|Disrupted splicing|||MGI:88457|Col5a1|collagen, type V, alpha 1 [Source:MGI Symbol;Acc:MGI:88457]|Heterozygous|Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.|T|A|14|37.5|Splice|Alive, Line Propagating
6501870|IGL01292|12|115495858|S->P|||MGI:3642755, MGI:3052201, MGI:3581248|Ac164609.4||Heterozygous||A|G|167|40.0|Non-synonymous|Alive
6501871|IGL01292|15|81427498|V->G|1.0|Probably damaging|MGI:2445217|Xpnpep3|X-prolyl aminopeptidase (aminopeptidase P) 3, putative [Source:MGI Symbol;Acc:MGI:2445217]|Heterozygous||T|G|69|39.0|Non-synonymous|Alive
6501872|IGL01292|7|33287626|C->Stop||N/A|MGI:3782875|Scgb1b21|secretoglobin, family 1B, member 21 [Source:MGI Symbol;Acc:MGI:3782875]|Heterozygous||T|A|61|40.0|Non-synonymous|Alive
6501873|IGL01292|2|181805012|L->M|1.0|Probably damaging|MGI:1100535|Myt1|myelin transcription factor 1 [Source:MGI Symbol;Acc:MGI:1100535]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.|T|A|60|37.5|Non-synonymous|Alive
6501874|IGL01292|6|138657535|E->K|||MGI:1354380|Igbp1b|immunoglobulin (CD79A) binding protein 1b [Source:MGI Symbol;Acc:MGI:1354380]|Heterozygous||C|T|57|41.0|Non-synonymous|Alive
6501875|IGL01292|3|125438754|D->G|1.0|Probably damaging|MGI:1932545|Ndst4|N-deacetylase/N-sulfotransferase (heparin glucosaminyl) 4 [Source:MGI Symbol;Acc:MGI:1932545]|Heterozygous||A|G|48|40.0|Non-synonymous|Alive
6501876|IGL01292|7|105760891|D->G|0.02|Benign|MGI:2685011|Dchs1|dachsous 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685011]|Heterozygous||T|C|46|37.0|Non-synonymous|Alive
6501877|IGL01292|16|18821114|S->P|1.0|Probably damaging|MGI:109353|Ufd1l|ubiquitin fusion degradation 1 like [Source:MGI Symbol;Acc:MGI:109353]|Heterozygous|Mice heterozygous for a knock-out allele are viable with no obvious heart defects.|T|C|41|38.0|Non-synonymous|Alive
6501878|IGL01292|5|25021965|S->N|0.9|Possibly damaging|MGI:1336153|Prkag2|protein kinase, AMP-activated, gamma 2 non-catalytic subunit [Source:MGI Symbol;Acc:MGI:1336153]|Heterozygous||C|T|40|36.0|Non-synonymous|Alive
6501879|IGL01292|15|91894276|T->A|0.01|Benign|MGI:2676278|Muc19|mucin 19 [Source:MGI Symbol;Acc:MGI:2676278]|Heterozygous||A|G|36|38.0|Non-synonymous|Alive
6501880|IGL01292|3|40664266|V->A|0.02|Benign|MGI:2443752|Intu|inturned planar cell polarity effector homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443752]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal neural tube development, polydactyly, and die by E16.5.|T|C|34|39.0|Non-synonymous|Alive
6501881|IGL01292|19|6119885|M->K||Benign|MGI:1916274|Snx15|sorting nexin 15 [Source:MGI Symbol;Acc:MGI:1916274]|Heterozygous||A|T|33|36.0|Non-synonymous|Alive
6501882|IGL01292|8|22390036|D->G|1.0|Probably damaging|MGI:1342274|Slc25a15|solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 [Source:MGI Symbol;Acc:MGI:1342274]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive
6501883|IGL01292|5|116024110|F->Y|0.02|Benign|MGI:1336167|Prkab1|protein kinase, AMP-activated, beta 1 non-catalytic subunit [Source:MGI Symbol;Acc:MGI:1336167]|Heterozygous|Mice homozygous for a gene trapped allele exhibit impaired brain development, seizures, reduced body weight, and die prior to weaning. Mice homozygous for a knock-out allele exhibit resistance to diet induced obesity, liver steatosis, and hyperinsulinemia.|A|T|28|37.0|Non-synonymous|Alive
6501884|IGL01292|11|3688175|A->D|1.0|Probably damaging|MGI:1921772|Morc2a|microrchidia 2A [Source:MGI Symbol;Acc:MGI:1921772]|Heterozygous||C|A|25|39.0|Non-synonymous|Alive
6501885|IGL01292|6|118080383|V->D|0.02|Benign|MGI:1917977|Rasgef1a|RasGEF domain family, member 1A [Source:MGI Symbol;Acc:MGI:1917977]|Heterozygous||T|A|21|39.0|Non-synonymous|Alive
6501886|IGL01292|14|32660874|S->G||Benign|MGI:3588196|3425401b19rik|RIKEN cDNA 3425401B19 gene [Source:MGI Symbol;Acc:MGI:3588196]|Heterozygous||T|C|20|36.0|Non-synonymous|Alive
6501887|IGL01292|9|110767977|D->V|0.98|Probably damaging|MGI:97268|Myl3|myosin, light polypeptide 3 [Source:MGI Symbol;Acc:MGI:97268]|Heterozygous||A|T|20|36.5|Non-synonymous|Alive
6501888|IGL01292|10|5814090|M->K||Benign|MGI:1918830|Mtrf1l|mitochondrial translational release factor 1-like [Source:MGI Symbol;Acc:MGI:1918830]|Heterozygous||A|T|19|40.0|Non-synonymous|Alive
6501889|IGL01292|7|44952558|Y->H|0.87|Possibly damaging|MGI:1347560|Tsks|testis-specific serine kinase substrate [Source:MGI Symbol;Acc:MGI:1347560]|Heterozygous||T|C|16|35.0|Non-synonymous|Alive
6501890|IGL01292|7|4478920|V->A||Unknown|MGI:1914675|Eps8l1|EPS8-like 1 [Source:MGI Symbol;Acc:MGI:1914675]|Heterozygous||T|C|15|34.0|Non-synonymous|Alive
6501891|IGL01292|10|127305518|I->N|1.0|Probably damaging|MGI:1345633|Mars|methionine-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1345633]|Heterozygous||A|T|14|38.0|Non-synonymous|Alive
6501892|IGL01292|16|17835529|F->S|1.0|Probably damaging|MGI:1931324|Car15|carbonic anhydrase 15 [Source:MGI Symbol;Acc:MGI:1931324]|Heterozygous||A|G|13|40.0|Non-synonymous|Alive
6501893|IGL01292|6|97144027|N->I|0.06|Benign|MGI:2141669|Eogt|EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase [Source:MGI Symbol;Acc:MGI:2141669]|Heterozygous||T|A|13|40.0|Non-synonymous|Alive
6501894|IGL01292|11|76846245|I->T|0.57|Possibly damaging|MGI:107265|Cpd|carboxypeptidase D [Source:MGI Symbol;Acc:MGI:107265]|Heterozygous||A|G|11|37.0|Non-synonymous|Alive
6501895|IGL01292|2|130690832|Disrupted splicing|||MGI:2138987|Slc4a11|solute carrier family 4, sodium bicarbonate transporter-like, member 11 [Source:MGI Symbol;Acc:MGI:2138987]|Heterozygous|Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urine hypoosmolarity and impaired hearing.|C|T|52|37.0|Splice|Alive
6501896|IGL01292|15|66481233|Disrupted splicing|||MGI:1859553|Lrrc6|leucine rich repeat containing 6 (testis) [Source:MGI Symbol;Acc:MGI:1859553]|Heterozygous||A|T|42|40.0|Splice|Alive
6501897|IGL01292|7|98014954|Disrupted splicing|||MGI:3606573|Gdpd4|glycerophosphodiester phosphodiesterase domain containing 4 [Source:MGI Symbol;Acc:MGI:3606573]|Heterozygous||T|C|26|36.0|Splice|Alive
6501898|IGL01292|6|86949538|Disrupted splicing|||MGI:1098687|Aak1|AP2 associated kinase 1 [Source:MGI Symbol;Acc:MGI:1098687]|Heterozygous||T|C|25|40.0|Splice|Alive
6501899|IGL01292|19|38651785|Disrupted splicing|||MGI:1921305|Plce1|phospholipase C, epsilon 1 [Source:MGI Symbol;Acc:MGI:1921305]|Heterozygous|Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.|T|A|20|40.0|Splice|Alive
6502515|IGL01293|6|90072412|S->T|0.77|Possibly damaging|MGI:1344384|Vmn1r49|vomeronasal 1, receptor 49 [Source:MGI Symbol;Acc:MGI:1344384]|Heterozygous||A|T|120|38.0|Non-synonymous|Alive, Line Propagating
6502516|IGL01293|2|120535035|Y->C|0.91|Possibly damaging|MGI:1270153|Zfp106|zinc finger protein 106 [Source:MGI Symbol;Acc:MGI:1270153]|Heterozygous||T|C|93|37.0|Non-synonymous|Alive, Line Propagating
6502517|IGL01293|17|37575417|I->T||Benign|MGI:2177496|Olfr113|olfactory receptor 113 [Source:MGI Symbol;Acc:MGI:2177496]|Heterozygous||A|G|89|40.0|Non-synonymous|Alive, Line Propagating
6502518|IGL01293|X|105876195|S->P||Benign|MGI:103067|Atrx|alpha thalassemia/mental retardation syndrome X-linked homolog (human) [Source:MGI Symbol;Acc:MGI:103067]|Heterozygous|Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-likned.|A|G|82|39.0|Non-synonymous|Alive, Line Propagating
6502519|IGL01293|13|28952681|R->L|1.0|Probably damaging|MGI:98366|Sox4|SRY-box containing gene 4 [Source:MGI Symbol;Acc:MGI:98366]|Heterozygous|Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice.|C|A|80|35.0|Non-synonymous|Alive, Line Propagating
6502520|IGL01293|19|59299786|R->W|1.0|Probably damaging|MGI:2677270|Pdzd8|PDZ domain containing 8 [Source:MGI Symbol;Acc:MGI:2677270]|Heterozygous||T|A|79|40.0|Non-synonymous|Alive, Line Propagating
6502521|IGL01293|15|82403009|V->E|1.0|Probably damaging|MGI:88602|Cyp2d10|cytochrome P450, family 2, subfamily d, polypeptide 10 [Source:MGI Symbol;Acc:MGI:88602]|Heterozygous||A|T|70|39.0|Non-synonymous|Alive, Line Propagating
6502522|IGL01293|4|144777589|H->N||Benign|MGI:2685284|Gm438|predicted gene 438 [Source:MGI Symbol;Acc:MGI:2685284]|Heterozygous||G|T|64|40.0|Non-synonymous|Alive, Line Propagating
6502523|IGL01293|18|3419426|K->E|0.95|Possibly damaging|MGI:1918995|Cul2|cullin 2 [Source:MGI Symbol;Acc:MGI:1918995]|Heterozygous||A|G|61|41.0|Non-synonymous|Alive, Line Propagating
6502524|IGL01293|17|40933176|S->T|0.79|Possibly damaging|MGI:1933744|Cenpq|centromere protein Q [Source:MGI Symbol;Acc:MGI:1933744]|Heterozygous||A|T|55|39.0|Non-synonymous|Alive, Line Propagating
6502525|IGL01293|17|24638709|C->F|1.0|Probably damaging|MGI:1313275|Nthl1|nth (endonuclease III)-like 1 (E.coli) [Source:MGI Symbol;Acc:MGI:1313275]|Heterozygous|Homozygotes for targeted null mutations exhibit slower hepatic repair of thymine glycol DNA lesions after treatment with X-rays. Mutants are overtly normal, long-lived, and fertile.|G|T|52|38.0|Non-synonymous|Alive, Line Propagating
6502526|IGL01293|7|24533724|D->G|0.64|Possibly damaging|MGI:2667176|Irgq|immunity-related GTPase family, Q [Source:MGI Symbol;Acc:MGI:2667176]|Heterozygous||A|G|52|38.0|Non-synonymous|Alive, Line Propagating
6502527|IGL01293|4|123471311|G->E|||MGI:108559|Macf1|microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]|Heterozygous|Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.|C|T|48|40.0|Non-synonymous|Alive, Line Propagating
6502528|IGL01293|16|29958814|S->P||Unknown|MGI:3584525|Gm1968|predicted gene 1968 [Source:MGI Symbol;Acc:MGI:3584525]|Heterozygous||A|G|46|39.0|Non-synonymous|Alive, Line Propagating
6502529|IGL01293|5|38529543|T->A||Benign|MGI:1337100|Wdr1|WD repeat domain 1 [Source:MGI Symbol;Acc:MGI:1337100]|Heterozygous||T|C|42|37.0|Non-synonymous|Alive, Line Propagating
6502530|IGL01293|2|25737707|H->R|0.28|Benign|MGI:3651927|Obp2b|odorant binding protein 2B [Source:MGI Symbol;Acc:MGI:3651927]|Heterozygous||A|G|41|40.0|Non-synonymous|Alive, Line Propagating
6502531|IGL01293|3|135590839|D->G|0.98|Probably damaging|MGI:97312|Nfkb1|nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 [Source:MGI Symbol;Acc:MGI:97312]|Heterozygous|Homozygous null mice have a decreased survivor rate, abnormal T cell development and decreased number of peripheral T cells, abnormal humoral responses with decreased immunoglobulin class switching, exhibit mild organ inflammation, and are susceptible to both bacterial infections and hearing loss.|T|C|35|40.0|Non-synonymous|Alive, Line Propagating
6502532|IGL01293|4|117132997|L->Stop||N/A|MGI:109604|Plk3|polo-like kinase 3 [Source:MGI Symbol;Acc:MGI:109604]|Heterozygous|Aged mice homozygous for a null allele develop tumors in various organs at an accelerated rate while mouse embryonic fibroblasts are hypersensitive to the induction of HIF-1alpha under hypoxic conditions or by nickel and cobalt ion treatments. Homozygotes for another null allele are overtly normal.|A|T|35|39.0|Non-synonymous|Alive, Line Propagating
6502533|IGL01293|2|28214703|E->G|1.0|Probably damaging|MGI:1860437|Olfm1|olfactomedin 1 [Source:MGI Symbol;Acc:MGI:1860437]|Heterozygous|Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility.|A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6502534|IGL01293|3|124322139|V->A|0.01|Benign|MGI:2443503|Tram1l1|translocation associated membrane protein 1-like 1 [Source:MGI Symbol;Acc:MGI:2443503]|Heterozygous||T|C|32|40.0|Non-synonymous|Alive, Line Propagating
6502535|IGL01293|7|24585757|P->L|0.93|Possibly damaging|MGI:2141921|Zfp575|zinc finger protein 575 [Source:MGI Symbol;Acc:MGI:2141921]|Heterozygous||G|A|32|36.5|Non-synonymous|Alive, Line Propagating
6502536|IGL01293|1|40446216|G->D|0.39|Benign|MGI:98427|Il1rl1|interleukin 1 receptor-like 1 [Source:MGI Symbol;Acc:MGI:98427]|Heterozygous|Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response.|G|A|28|40.0|Non-synonymous|Alive, Line Propagating
6502537|IGL01293|2|122123810|T->A|0.49|Possibly damaging|MGI:1914828|Patl2|protein associated with topoisomerase II homolog 2 (yeast) [Source:MGI Symbol;Acc:MGI:1914828]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive, Line Propagating
6502538|IGL01293|7|81974489|E->G|||MGI:1097164|Bnc1|basonuclin 1 [Source:MGI Symbol;Acc:MGI:1097164]|Heterozygous|Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium.|T|C|27|41.0|Non-synonymous|Alive, Line Propagating
6502539|IGL01293|7|44354236|V->A|0.67|Possibly damaging|MGI:3613677|Shank1|SH3/ankyrin domain gene 1 [Source:MGI Symbol;Acc:MGI:3613677]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive, Line Propagating
6502540|IGL01293|3|88983529|V->A|0.34|Benign|MGI:2183158|Ash1l|ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]|Heterozygous||T|C|25|38.0|Non-synonymous|Alive, Line Propagating
6502541|IGL01293|1|75388102|R->W|1.0|Probably damaging|MGI:109282|Speg|SPEG complex locus [Source:MGI Symbol;Acc:MGI:109282]|Heterozygous|Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.|C|T|24|35.0|Non-synonymous|Alive, Line Propagating
6502542|IGL01293|15|85131898|S->T|1.0|Probably damaging|MGI:2154049|Smc1b|structural maintenance of chromosomes 1B [Source:MGI Symbol;Acc:MGI:2154049]|Heterozygous|Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis.|A|T|24|35.0|Non-synonymous|Alive, Line Propagating
6502543|IGL01293|2|67515184|P->S|0.68|Possibly damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||C|T|23|39.0|Non-synonymous|Alive, Line Propagating
6502544|IGL01293|7|12891424|Stop->W||N/A|MGI:2389445|Zfp128|zinc finger protein 128 [Source:MGI Symbol;Acc:MGI:2389445]|Heterozygous||A|G|23|41.0|Non-synonymous|Alive, Line Propagating
6502545|IGL01293|10|27231636|T->A|||MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|T|C|22|38.0|Non-synonymous|Alive, Line Propagating
6502546|IGL01293|4|11521114|K->N|1.0|Probably damaging|MGI:1913435|1110037f02rik|RIKEN cDNA 1110037F02 gene [Source:MGI Symbol;Acc:MGI:1913435]|Heterozygous||G|T|18|38.0|Non-synonymous|Alive, Line Propagating
6502547|IGL01293|17|56353019|D->G|0.94|Possibly damaging|MGI:2442355|Kdm4b|lysine (K)-specific demethylase 4B [Source:MGI Symbol;Acc:MGI:2442355]|Heterozygous|Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching.|A|G|17|34.0|Non-synonymous|Alive, Line Propagating
6502548|IGL01293|4|144463656|V->A|0.36|Benign|MGI:2685281|Aadacl3|arylacetamide deacetylase-like 3 [Source:MGI Symbol;Acc:MGI:2685281]|Heterozygous||A|G|17|39.0|Non-synonymous|Alive, Line Propagating
6502549|IGL01293|9|19375336|A->S|0.02|Benign|MGI:3030681|Olfr847|olfactory receptor 847 [Source:MGI Symbol;Acc:MGI:3030681]|Heterozygous||C|A|17|40.0|Non-synonymous|Alive, Line Propagating
6502550|IGL01293|10|102388225|Y->F||Benign|MGI:1914819|Mgat4c|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) [Source:MGI Symbol;Acc:MGI:1914819]|Heterozygous||A|T|16|40.5|Non-synonymous|Alive, Line Propagating
6502551|IGL01293|4|9281559|M->K||Unknown|MGI:1921688|Clvs1|clavesin 1 [Source:MGI Symbol;Acc:MGI:1921688]|Heterozygous||T|A|14|38.5|Non-synonymous|Alive, Line Propagating
6502552|IGL01293|5|45681854|N->S||Benign|MGI:1930197|Ncapg|non-SMC condensin I complex, subunit G [Source:MGI Symbol;Acc:MGI:1930197]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive, Line Propagating
6502553|IGL01293|4|116820944|T->S|0.08|Benign|MGI:2444646|Hpdl|4-hydroxyphenylpyruvate dioxygenase-like [Source:MGI Symbol;Acc:MGI:2444646]|Heterozygous||T|A|12|35.5|Non-synonymous|Alive, Line Propagating
6502554|IGL01293|X|17207695|I->L|0.07|Benign|MGI:1921655|Efhc2|EF-hand domain (C-terminal) containing 2 [Source:MGI Symbol;Acc:MGI:1921655]|Heterozygous||T|A|12|40.5|Non-synonymous|Alive, Line Propagating
6502555|IGL01293|15|91726137|F->L|0.04|Benign|MGI:1913975|Lrrk2|leucine-rich repeat kinase 2 [Source:MGI Symbol;Acc:MGI:1913975]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.|T|C|11|40.0|Non-synonymous|Alive, Line Propagating
6502556|IGL01293|9|63636469|V->A||Benign|MGI:1914189|Aagab|alpha- and gamma-adaptin binding protein [Source:MGI Symbol;Acc:MGI:1914189]|Heterozygous||T|C|11|40.0|Non-synonymous|Alive, Line Propagating
6502557|IGL01293|4|14822682|Disrupted splicing|||MGI:1919451|Otud6b|OTU domain containing 6B [Source:MGI Symbol;Acc:MGI:1919451]|Heterozygous||A|G|81|40.0|Splice|Alive, Line Propagating
6502558|IGL01293|X|111450362|Disrupted splicing|||MGI:1914321|Rps6ka6|ribosomal protein S6 kinase polypeptide 6 [Source:MGI Symbol;Acc:MGI:1914321]|Heterozygous||T|C|49|37.0|Splice|Alive, Line Propagating
6502559|IGL01293|18|25020652|Disrupted splicing|||MGI:1925847|Fhod3|formin homology 2 domain containing 3 [Source:MGI Symbol;Acc:MGI:1925847]|Heterozygous||C|T|11|38.0|Splice|Alive, Line Propagating
6503163|IGL01294|7|19390417|I->V|0.01|Benign|MGI:95413|Ercc2|excision repair cross-complementing rodent repair deficiency, complementation group 2 [Source:MGI Symbol;Acc:MGI:95413]|Heterozygous|Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.|A|G|139|39.0|Non-synonymous|Alive
6503164|IGL01294|1|165593608|S->P|0.04|Benign|MGI:1915731|Mpzl1|myelin protein zero-like 1 [Source:MGI Symbol;Acc:MGI:1915731]|Heterozygous||A|G|61|36.0|Non-synonymous|Alive
6503166|IGL01294|16|57572348|K->Stop||N/A|MGI:1925999, MGI:1913747|Cmss1,filip1l|cms small ribosomal subunit 1 [Source:MGI Symbol;Acc:MGI:1913747],filamin A interacting protein 1-like [Source:MGI Symbol;Acc:MGI:1925999]|Heterozygous||A|T|58|40.5|Non-synonymous|Alive
6503167|IGL01294|7|141646659|Y->C|||MGI:2663233|Muc6|mucin 6, gastric [Source:MGI Symbol;Acc:MGI:2663233]|Heterozygous||T|C|56|36.5|Non-synonymous|Alive
6503168|IGL01294|2|30405187|A->V|0.99|Probably damaging|MGI:109501|Crat|carnitine acetyltransferase [Source:MGI Symbol;Acc:MGI:109501]|Heterozygous||G|A|52|38.0|Non-synonymous|Alive
6503169|IGL01294|14|110750074|M->V||Benign|MGI:2443198|Slitrk6|SLIT and NTRK-like family, member 6 [Source:MGI Symbol;Acc:MGI:2443198]|Heterozygous|Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia.|T|C|45|40.0|Non-synonymous|Alive
6503170|IGL01294|7|106865763|L->S|0.97|Probably damaging|MGI:3030538|Olfr704|olfactory receptor 704 [Source:MGI Symbol;Acc:MGI:3030538]|Heterozygous||T|C|43|38.0|Non-synonymous|Alive
6503171|IGL01294|17|71274594|A->E|0.28|Benign|MGI:2389136|Emilin2|elastin microfibril interfacer 2 [Source:MGI Symbol;Acc:MGI:2389136]|Heterozygous||G|T|42|36.5|Non-synonymous|Alive
6503172|IGL01294|9|107514081|Y->D|0.91|Possibly damaging|MGI:1929813|Cacna2d2|calcium channel, voltage-dependent, alpha 2/delta subunit 2 [Source:MGI Symbol;Acc:MGI:1929813]|Heterozygous||T|G|40|37.0|Non-synonymous|Alive
6503173|IGL01294|9|14830915|S->P|0.98|Probably damaging|MGI:1100512|Mre11a|meiotic recombination 11 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1100512]|Heterozygous|Though mutation of this locus affected chromosome stability, mutant mice were no more susceptible to tumorigenesis than wild-type mice. Mutant female mice showed reduced fertility.|T|C|37|40.0|Non-synonymous|Alive
6503174|IGL01294|15|90501445|S->L|0.97|Probably damaging|MGI:1914121|Cpne8|copine VIII [Source:MGI Symbol;Acc:MGI:1914121]|Heterozygous||G|A|35|37.0|Non-synonymous|Alive
6503175|IGL01294|8|105275657|Stop->L||N/A|MGI:1347058|Hsf4|heat shock transcription factor 4 [Source:MGI Symbol;Acc:MGI:1347058]|Heterozygous|Homozygous null mice display abnormal lens morphology and cataracts.|G|T|32|38.5|Non-synonymous|Alive
6503176|IGL01294|5|86150048|I->L|0.48|Possibly damaging|MGI:1913894|Uba6|ubiquitin-like modifier activating enzyme 6 [Source:MGI Symbol;Acc:MGI:1913894]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality.|T|A|31|40.0|Non-synonymous|Alive
6503177|IGL01294|17|56783657|Y->C|1.0|Probably damaging|MGI:106583|Rfx2|regulatory factor X, 2 (influences HLA class II expression) [Source:MGI Symbol;Acc:MGI:106583]|Heterozygous||T|C|28|36.0|Non-synonymous|Alive
6503178|IGL01294|9|44820297|S->P||Unknown|MGI:96995|Mll1|myeloid/lymphoid or mixed-lineage leukemia 1 [Source:MGI Symbol;Acc:MGI:96995]|Heterozygous|Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.|A|G|23|40.0|Non-synonymous|Alive
6503179|IGL01294|11|103808314|H->L|0.76|Possibly damaging|MGI:98955|Wnt3|wingless-related MMTV integration site 3 [Source:MGI Symbol;Acc:MGI:98955]|Heterozygous|Homozygous mutants develop to the egg cylinder stage, but fail to form a primitive streak, mesoderm, or node, and die by embryonic day 10.5.|A|T|21|35.0|Non-synonymous|Alive
6503181|IGL01294|13|100217080|S->P|0.98|Probably damaging|MGI:1298220|Naip5|NLR family, apoptosis inhibitory protein 5 [Source:MGI Symbol;Acc:MGI:1298220]|Heterozygous|This locus controls resistance to Legionella pneumophila, the organism responsible for Legionnaire's disease. Cultured peritoneal macrophages from A/J mice are susceptible, supporting bacterial proliferation; other strains, e.g., C57BL/6 are resistant.|A|G|18|40.0|Non-synonymous|Alive
6503182|IGL01294|8|72711745|N->Y|1.0|Probably damaging|MGI:2442268|Nwd1|NACHT and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:2442268]|Heterozygous||A|T|18|37.5|Non-synonymous|Alive
6503183|IGL01294|3|119747812|V->A|0.33|Benign|MGI:1860489|Ptbp2|polypyrimidine tract binding protein 2 [Source:MGI Symbol;Acc:MGI:1860489]|Heterozygous||A|G|16|40.0|Non-synonymous|Alive
6503184|IGL01294|7|128237119|S->T||Benign|MGI:2442738|9130023h24rik|RIKEN cDNA 9130023H24 gene [Source:MGI Symbol;Acc:MGI:2442738]|Heterozygous||A|T|16|38.0|Non-synonymous|Alive
6503185|IGL01294|13|56074300|V->E|0.94|Possibly damaging|MGI:1349392|H2afy|H2A histone family, member Y [Source:MGI Symbol;Acc:MGI:1349392]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and display no gross phenotypic abnormalities.|A|T|15|40.0|Non-synonymous|Alive
6503186|IGL01294|7|116083842|D->V|0.24|Benign|MGI:3782538|Gm4353|predicted gene 4353 [Source:MGI Symbol;Acc:MGI:3782538]|Heterozygous||T|A|15|40.0|Non-synonymous|Alive
6503187|IGL01294|17|34194045|Disrupted splicing|||MGI:98483|Tap1|transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) [Source:MGI Symbol;Acc:MGI:98483]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are deficient in antigen presentation, surface class I antigens, and CD4-8+ T cells.|T|C|55|37.0|Splice|Alive
6503188|IGL01294|2|10590421|Disrupted splicing|||MGI:2447794|Sfmbt2|Scm-like with four mbt domains 2 [Source:MGI Symbol;Acc:MGI:2447794]|Heterozygous||T|A|41|39.0|Splice|Alive
6503189|IGL01294|14|50829657|Disrupted splicing|||MGI:109573|Tep1|telomerase associated protein 1 [Source:MGI Symbol;Acc:MGI:109573]|Heterozygous|Mice homozygous for a disruption in this gene show no obvious phenotype. No changes are seen in telomerase activity or telomere length.|A|G|38|37.0|Splice|Alive
6503190|IGL01294|2|62253309|Disrupted splicing|||MGI:2150150|Slc4a10|solute carrier family 4, sodium bicarbonate cotransporter-like, member 10 [Source:MGI Symbol;Acc:MGI:2150150]|Heterozygous|Mice with homozygous disruption of this gene exhibit reduced brain ventricle volume, reduced neuronal excitability, impaired pH regulation of neurons, and increased threshold to induced seizures.|A|C|38|40.0|Splice|Alive
6503191|IGL01294|8|8683739|Disrupted splicing|||MGI:2442985|Arglu1|arginine and glutamate rich 1 [Source:MGI Symbol;Acc:MGI:2442985]|Heterozygous||G|T|34|38.0|Splice|Alive
6503192|IGL01294|5|37347510|Disrupted splicing|||MGI:1915775|Evc2|Ellis van Creveld syndrome 2 [Source:MGI Symbol;Acc:MGI:1915775]|Heterozygous||T|C|23|36.0|Splice|Alive
6503193|IGL01294|X|84431998|Disrupted splicing|||MGI:94909|Dmd|dystrophin, muscular dystrophy [Source:MGI Symbol;Acc:MGI:94909]|Heterozygous|Hemizygous males and homozygous mutant females show progressive muscle atrophy, increased K+ and Ca+ in muscle with age, increased blood pyruvate kinase and other symptoms of Duchenne and Becker muscular dystrophy. Alleles vary in severity and may include cardiovascular and digestive system defects.|T|C|10|39.0|Splice|Alive
6503812|IGL01295|6|124749276|E->G||Unknown|MGI:104725|Atn1|atrophin 1 [Source:MGI Symbol;Acc:MGI:104725]|Heterozygous|Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food.|T|C|181|36.0|Non-synonymous|Alive, Line Propagating
6503813|IGL01295|7|39407817|W->R|||MGI:3647631|Gm5114|predicted gene 5114 [Source:MGI Symbol;Acc:MGI:3647631]|Heterozygous||A|T|140|39.0|Non-synonymous|Alive, Line Propagating
6503814|IGL01295|15|77585596|V->E|||MGI:3043522|Apol10b|apolipoprotein L 10B [Source:MGI Symbol;Acc:MGI:3043522]|Heterozygous||A|T|137|38.0|Non-synonymous|Alive, Line Propagating
6503815|IGL01295|1|173215873|Y->F|1.0|Probably damaging|MGI:3031238|Olfr1404|olfactory receptor 1404 [Source:MGI Symbol;Acc:MGI:3031238]|Heterozygous||A|T|116|40.0|Non-synonymous|Alive, Line Propagating
6503816|IGL01295|11|8933685|F->L|1.0|Probably damaging|MGI:2156538|Pkd1l1|polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]|Heterozygous|Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.|A|G|107|40.0|Non-synonymous|Alive, Line Propagating
6503817|IGL01295|10|130472009|V->F|1.0|Probably damaging|MGI:3645796|Vmn2r87|vomeronasal 2, receptor 87 [Source:MGI Symbol;Acc:MGI:3645796]|Heterozygous||C|A|90|39.0|Non-synonymous|Alive, Line Propagating
6503818|IGL01295|14|99301721|T->I||Benign|MGI:1338056|Klf5|Kruppel-like factor 5 [Source:MGI Symbol;Acc:MGI:1338056]|Heterozygous|Homozygous null mice die during gestation, while heterozygotes survive to adulthood but exhibit abnormal cardiovascular remodeling after external stress.|C|T|85|40.0|Non-synonymous|Alive, Line Propagating
6503819|IGL01295|7|45159964|L->P|1.0|Probably damaging|MGI:1916095|Pih1d1|PIH1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1916095]|Heterozygous||T|C|84|40.0|Non-synonymous|Alive, Line Propagating
6503820|IGL01295|5|87080885|V->A|0.99|Probably damaging|MGI:3576103|Ugt2b36|UDP glucuronosyltransferase 2 family, polypeptide B36 [Source:MGI Symbol;Acc:MGI:3576103]|Heterozygous||A|G|81|39.0|Non-synonymous|Alive, Line Propagating
6503821|IGL01295|17|56279814|Y->C|1.0|Probably damaging|MGI:1914155|Plin3|perilipin 3 [Source:MGI Symbol;Acc:MGI:1914155]|Heterozygous||T|C|79|35.0|Non-synonymous|Alive, Line Propagating
6503822|IGL01295|17|73504919|Q->K|0.31|Benign|MGI:1918935|Galnt14|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 [Source:MGI Symbol;Acc:MGI:1918935]|Heterozygous||G|T|78|39.0|Non-synonymous|Alive, Line Propagating
6503823|IGL01295|10|130453026|H->P|||MGI:3649066|Vmn2r86|vomeronasal 2, receptor 86 [Source:MGI Symbol;Acc:MGI:3649066]|Heterozygous||T|G|70|39.0|Non-synonymous|Alive, Line Propagating
6503825|IGL01295|1|69577987|R->H|0.14|Benign|MGI:1342541|Ikzf2|IKAROS family zinc finger 2 [Source:MGI Symbol;Acc:MGI:1342541]|Heterozygous|Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain.|C|T|61|40.0|Non-synonymous|Alive, Line Propagating
6503826|IGL01295|10|116362648|I->V|0.01|Benign|MGI:97809|Ptprb|protein tyrosine phosphatase, receptor type, B [Source:MGI Symbol;Acc:MGI:97809]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature.|A|G|59|41.0|Non-synonymous|Alive, Line Propagating
6503827|IGL01295|11|74683647|R->S|1.0|Probably damaging|MGI:109520|Pafah1b1|platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 [Source:MGI Symbol;Acc:MGI:109520]|Heterozygous|Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination.|G|T|55|39.0|Non-synonymous|Alive, Line Propagating
6503828|IGL01295|12|114093999|S->A|||MGI:3581248, MGI:3052201, MGI:4361843, MGI:4439911|Ac073563.5||Heterozygous||A|C|55|38.0|Non-synonymous|Alive, Line Propagating
6503829|IGL01295|11|69968470|D->N||Unknown|MGI:1859017|Elp5|elongator acetyltransferase complex subunit 5 [Source:MGI Symbol;Acc:MGI:1859017]|Heterozygous||C|T|52|40.0|Non-synonymous|Alive, Line Propagating
6503830|IGL01295|15|52306559|N->Y|0.22|Benign|MGI:2442682|Slc30a8|solute carrier family 30 (zinc transporter), member 8 [Source:MGI Symbol;Acc:MGI:2442682]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion.|A|T|52|39.0|Non-synonymous|Alive, Line Propagating
6503831|IGL01295|18|76302430|A->T|0.01|Benign|MGI:108051|Smad2|SMAD family member 2 [Source:MGI Symbol;Acc:MGI:108051]|Heterozygous|Homozygous embryos die at day 6.5-8.5 with multiple defects, including failed gastrulation, lack of mesoderm, visceral endoderm dysfunction and failure to form anterior-posterior axis. Heterozygotes may show gastrulation defects and lack mandible or eyes.|G|A|51|39.0|Non-synonymous|Alive, Line Propagating
6503832|IGL01295|7|3717406|P->S|0.18|Benign|MGI:894311|Lilrb3|leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 [Source:MGI Symbol;Acc:MGI:894311]|Heterozygous|Mice homozygous for disruptions of this gene display abnormalities in both B and T lymphocytes.|G|A|49|39.0|Non-synonymous|Alive, Line Propagating
6503833|IGL01295|9|61932129|C->S|0.39|Benign|MGI:1919069|Kif23|kinesin family member 23 [Source:MGI Symbol;Acc:MGI:1919069]|Heterozygous||A|T|48|39.0|Non-synonymous|Alive, Line Propagating
6503834|IGL01295|2|19446618|I->T|0.92|Possibly damaging|MGI:1328312|Ptf1a|pancreas specific transcription factor, 1a [Source:MGI Symbol;Acc:MGI:1328312]|Heterozygous|Mice homozygous for a knock-in allele exhibit neonatal lethality, abnormal eye morphology, and absent pancreas. Mice homozygous for a knock-out allele exhibit neonatal lethality, absent pancreas, and abnormal cerebellum development.|T|C|45|37.0|Non-synonymous|Alive, Line Propagating
6503835|IGL01295|14|110751436|S->T|0.11|Benign|MGI:2443198|Slitrk6|SLIT and NTRK-like family, member 6 [Source:MGI Symbol;Acc:MGI:2443198]|Heterozygous|Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia.|A|T|44|38.0|Non-synonymous|Alive, Line Propagating
6503836|IGL01295|1|106755457|V->A|0.25|Benign|MGI:1918000|Kdsr|3-ketodihydrosphingosine reductase [Source:MGI Symbol;Acc:MGI:1918000]|Heterozygous||A|G|43|39.0|Non-synonymous|Alive, Line Propagating
6503837|IGL01295|14|55832505|V->A|0.02|Benign|MGI:1920431|Nfatc4|nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4 [Source:MGI Symbol;Acc:MGI:1920431]|Heterozygous|Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding.|T|C|42|37.5|Non-synonymous|Alive, Line Propagating
6503839|IGL01295|7|16795862|D->G|1.0|Probably damaging|MGI:105305|Slc1a5|solute carrier family 1 (neutral amino acid transporter), member 5 [Source:MGI Symbol;Acc:MGI:105305]|Heterozygous||A|G|38|37.0|Non-synonymous|Alive, Line Propagating
6503840|IGL01295|14|118267647|S->A|||MGI:3643023|Gm9376|predicted gene 9376 [Source:MGI Symbol;Acc:MGI:3643023]|Heterozygous||T|G|37|39.0|Non-synonymous|Alive, Line Propagating
6503841|IGL01295|7|103778241|V->I||Benign|MGI:1341790|Olfr68|olfactory receptor 68 [Source:MGI Symbol;Acc:MGI:1341790]|Heterozygous||C|T|37|40.0|Non-synonymous|Alive, Line Propagating
6503842|IGL01295|17|13080160|P->S|0.99|Probably damaging|MGI:98542|Tcp10b|t-complex protein 10b [Source:MGI Symbol;Acc:MGI:98542]|Heterozygous||C|T|35|40.0|Non-synonymous|Alive, Line Propagating
6503843|IGL01295|10|28475178|V->I|0.08|Benign|MGI:103310|Ptprk|protein tyrosine phosphatase, receptor type, K [Source:MGI Symbol;Acc:MGI:103310]|Heterozygous||G|A|34|40.0|Non-synonymous|Alive, Line Propagating
6503844|IGL01295|15|82306418|M->K|0.98|Probably damaging|MGI:1921966|Wbp2nl|WBP2 N-terminal like [Source:MGI Symbol;Acc:MGI:1921966]|Heterozygous||T|A|34|39.0|Non-synonymous|Alive, Line Propagating
6503845|IGL01295|8|11236075|T->K||Unknown|MGI:88454|Col4a1|collagen, type IV, alpha 1 [Source:MGI Symbol;Acc:MGI:88454]|Heterozygous|Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.|G|T|30|39.0|Non-synonymous|Alive, Line Propagating
6503846|IGL01295|14|32661936|L->I|0.06|Benign|MGI:3588196|3425401b19rik|RIKEN cDNA 3425401B19 gene [Source:MGI Symbol;Acc:MGI:3588196]|Heterozygous||G|T|28|38.0|Non-synonymous|Alive, Line Propagating
6503847|IGL01295|18|39774029|Y->N|1.0|Probably damaging|MGI:1349723|Pabpc2|poly(A) binding protein, cytoplasmic 2 [Source:MGI Symbol;Acc:MGI:1349723]|Heterozygous||T|A|27|39.0|Non-synonymous|Alive, Line Propagating
6503848|IGL01295|12|99891670|N->D||Benign|MGI:1920036|Tdp1|tyrosyl-DNA phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:1920036]|Heterozygous|Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.|A|G|26|38.5|Non-synonymous|Alive, Line Propagating
6503849|IGL01295|11|82818457|C->S|1.0|Probably damaging|MGI:1914588|Rffl|ring finger and FYVE like domain containing protein [Source:MGI Symbol;Acc:MGI:1914588]|Heterozygous|Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype.|A|T|25|38.0|Non-synonymous|Alive, Line Propagating
6503850|IGL01295|10|6900642|F->L|1.0|Probably damaging|MGI:97441, MGI:2444159|Ipcef1,oprm1|opioid receptor, mu 1 [Source:MGI Symbol;Acc:MGI:97441],interaction protein for cytohesin exchange factors 1 [Source:MGI Symbol;Acc:MGI:2444159]|Heterozygous|Homozygotes for null mutations exhibit isoform dependent loss of behavioral and gastrointestinal opioid responses and may also show impaired spatial memory, heightened nociception, reduced locomotor activity, increased hematopoietic proliferation, and decreased male fertility.,NO_PHENOTYPE|A|T|24|36.5|Non-synonymous|Alive, Line Propagating
6503851|IGL01295|11|70009584|V->F|0.85|Possibly damaging|MGI:106613|Dvl2|dishevelled 2, dsh homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:106613]|Heterozygous|Homozygous mice show incomplete penetrance of perinatal lethality with surviving mice being predominantly female. Defects include cardiovascular outflow and neural tube abnormalities, malformations of vertebrae and ribs, and irregular somite segmentation.|G|T|24|37.0|Non-synonymous|Alive, Line Propagating
6503852|IGL01295|2|5033156|T->I|0.06|Benign|MGI:1918898|Optn|optineurin [Source:MGI Symbol;Acc:MGI:1918898]|Heterozygous||G|A|24|39.5|Non-synonymous|Alive, Line Propagating
6503853|IGL01295|12|28746762|S->N|1.0|Probably damaging|MGI:2445089|Trappc12|trafficking protein particle complex 12 [Source:MGI Symbol;Acc:MGI:2445089]|Heterozygous||C|T|23|39.0|Non-synonymous|Alive, Line Propagating
6503854|IGL01295|4|22427348|R->S||Benign|MGI:2140367|Fbxl4|F-box and leucine-rich repeat protein 4 [Source:MGI Symbol;Acc:MGI:2140367]|Heterozygous||C|A|23|39.0|Non-synonymous|Alive, Line Propagating
6503855|IGL01295|8|105695516|M->T|0.01|Benign|MGI:2685431|Rltpr|RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing [Source:MGI Symbol;Acc:MGI:2685431]|Heterozygous||T|C|22|38.0|Non-synonymous|Alive, Line Propagating
6503856|IGL01295|11|121421554|Y->C|1.0|Probably damaging|MGI:2679256|Fn3krp|fructosamine 3 kinase related protein [Source:MGI Symbol;Acc:MGI:2679256]|Heterozygous||A|G|21|37.0|Non-synonymous|Alive, Line Propagating
6503857|IGL01295|7|120668395|G->R|1.0|Probably damaging|MGI:1915233|Pdzd9|PDZ domain containing 9 [Source:MGI Symbol;Acc:MGI:1915233]|Heterozygous||C|T|20|36.5|Non-synonymous|Alive, Line Propagating
6503858|IGL01295|14|56463064|Q->Stop||N/A|MGI:1353419|Rnf17|ring finger protein 17 [Source:MGI Symbol;Acc:MGI:1353419]|Heterozygous|Homozygous null mice display male infertility, azoospermia, arrest of spermatogenesis, and small testis.|C|T|18|39.5|Non-synonymous|Alive, Line Propagating
6503859|IGL01295|2|118118327|D->G|0.29|Benign|MGI:98737|Thbs1|thrombospondin 1 [Source:MGI Symbol;Acc:MGI:98737]|Heterozygous||A|G|18|37.0|Non-synonymous|Alive, Line Propagating
6503860|IGL01295|5|140441740|I->V|0.5|Possibly damaging|MGI:106478|Eif3b|eukaryotic translation initiation factor 3, subunit B [Source:MGI Symbol;Acc:MGI:106478]|Heterozygous||A|G|18|39.0|Non-synonymous|Alive, Line Propagating
6503861|IGL01295|5|134192764|D->N|1.0|Probably damaging|MGI:2149780|Gtf2ird2|GTF2I repeat domain containing 2 [Source:MGI Symbol;Acc:MGI:2149780]|Heterozygous||G|A|17|39.0|Non-synonymous|Alive, Line Propagating
6503862|IGL01295|9|79643926|V->E|1.0|Probably damaging|MGI:88448|Col12a1|collagen, type XII, alpha 1 [Source:MGI Symbol;Acc:MGI:88448]|Heterozygous||A|T|16|37.5|Non-synonymous|Alive, Line Propagating
6503863|IGL01295|1|162799124|D->E|0.84|Possibly damaging|MGI:2429497|Fmo4|flavin containing monooxygenase 4 [Source:MGI Symbol;Acc:MGI:2429497]|Heterozygous||A|T|14|40.5|Non-synonymous|Alive, Line Propagating
6503864|IGL01295|5|106917606|M->R|0.51|Possibly damaging|MGI:3036246|Hfm1|HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3036246]|Heterozygous||A|C|14|41.0|Non-synonymous|Alive, Line Propagating
6503865|IGL01295|1|93380478|D->G|0.06|Benign|MGI:3052714|Ano7|anoctamin 7 [Source:MGI Symbol;Acc:MGI:3052714]|Heterozygous||A|G|13|40.0|Non-synonymous|Alive, Line Propagating
6503866|IGL01295|2|120281726|T->M|1.0|Probably damaging|MGI:1925640|Pla2g4d|phospholipase A2, group IVD [Source:MGI Symbol;Acc:MGI:1925640]|Heterozygous||G|A|12|38.5|Non-synonymous|Alive, Line Propagating
6503867|IGL01295|10|11183868|E->G|0.55|Possibly damaging|MGI:1917581|Shprh|SNF2 histone linker PHD RING helicase [Source:MGI Symbol;Acc:MGI:1917581]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive, Line Propagating
6503868|IGL01295|7|75865872|H->Q|0.64|Possibly damaging|MGI:2668031|Klhl25|kelch-like 25 (Drosophila) [Source:MGI Symbol;Acc:MGI:2668031]|Heterozygous||T|A|11|39.0|Non-synonymous|Alive, Line Propagating
6503869|IGL01295|1|162682492|S->G|||MGI:1913754|Prrc2c|proline-rich coiled-coil 2C [Source:MGI Symbol;Acc:MGI:1913754]|Heterozygous||T|C|10|40.0|Non-synonymous|Alive, Line Propagating
6503871|IGL01295|11|75180949|Disrupted splicing|||MGI:2151233|Dph1|DPH1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2151233]|Heterozygous|Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected.|A|G|47|40.0|Splice|Alive, Line Propagating
6503872|IGL01295|7|107747539|Disrupted splicing|||MGI:894649|Ppfibp2|PTPRF interacting protein, binding protein 2 (liprin beta 2) [Source:MGI Symbol;Acc:MGI:894649]|Heterozygous||T|C|47|37.0|Splice|Alive, Line Propagating
6503873|IGL01295|2|145616714|Disrupted splicing|||MGI:2137513|Slc24a3|solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 [Source:MGI Symbol;Acc:MGI:2137513]|Heterozygous||G|A|38|40.0|Splice|Alive, Line Propagating
6503874|IGL01295|2|119530079|Disrupted splicing|||MGI:3045306|Exd1|exonuclease 3'-5' domain containing 1 [Source:MGI Symbol;Acc:MGI:3045306]|Heterozygous||A|T|34|38.0|Splice|Alive, Line Propagating
6503875|IGL01295|15|91350132|Disrupted splicing|||MGI:2146030|Slc2a13|solute carrier family 2 (facilitated glucose transporter), member 13 [Source:MGI Symbol;Acc:MGI:2146030]|Heterozygous||T|A|23|39.0|Splice|Alive, Line Propagating
6503876|IGL01295|2|160988370|Disrupted splicing|||MGI:1918639|Chd6|chromodomain helicase DNA binding protein 6 [Source:MGI Symbol;Acc:MGI:1918639]|Heterozygous|Homozygous null mice display impaired coordination that is not due to muscle weakness or bradykinesia.|G|A|21|41.0|Splice|Alive, Line Propagating
6503877|IGL01295|X|104544913|Disrupted splicing|||MGI:1915336|Zdhhc15|zinc finger, DHHC domain containing 15 [Source:MGI Symbol;Acc:MGI:1915336]|Heterozygous||T|C|19|39.0|Splice|Alive, Line Propagating
6503878|IGL01295|17|48365599|Disrupted splicing|||MGI:1918576|Treml1|triggering receptor expressed on myeloid cells-like 1 [Source:MGI Symbol;Acc:MGI:1918576]|Heterozygous|Mice homozygous for a knock-out allele show a reduced platelet count, defective platelet aggregation, prolonged bleeding times, enhanced inflammatory hemorrhage, and increased susceptibility to death from endotoxin (LPS) challenge.|T|C|16|38.0|Splice|Alive, Line Propagating
6503879|IGL01295|10|81467080|Disrupted splicing|||MGI:2442333|Celf5|CUGBP, Elav-like family member 5 [Source:MGI Symbol;Acc:MGI:2442333]|Heterozygous||G|T|14|39.0|Splice|Alive, Line Propagating
6504496|IGL01296|8|43651141|V->A|0.96|Probably damaging|MGI:2181992|Adam34|a disintegrin and metallopeptidase domain 34 [Source:MGI Symbol;Acc:MGI:2181992]|Heterozygous||A|G|275|39.0|Non-synonymous|Alive
6504497|IGL01296|2|36421704|Y->C|0.73|Possibly damaging|MGI:3030173|Olfr339|olfactory receptor 339 [Source:MGI Symbol;Acc:MGI:3030173]|Heterozygous||A|G|184|38.0|Non-synonymous|Alive
6504498|IGL01296|17|19065185|I->N|1.0|Probably damaging|MGI:3647977|Vmn2r98|vomeronasal 2, receptor 98 [Source:MGI Symbol;Acc:MGI:3647977]|Heterozygous||T|A|125|40.0|Non-synonymous|Alive
6504499|IGL01296|9|38848252|I->T|1.0|Probably damaging|MGI:3030758|Olfr924|olfactory receptor 924 [Source:MGI Symbol;Acc:MGI:3030758]|Heterozygous||T|C|122|39.0|Non-synonymous|Alive
6504500|IGL01296|7|58813625|F->I|0.19|Benign|MGI:1330809|Atp10a|ATPase, class V, type 10A [Source:MGI Symbol;Acc:MGI:1330809]|Heterozygous|Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associate with that deletion.|T|A|109|35.0|Non-synonymous|Alive
6504501|IGL01296|4|113236440|F->L|0.26|Benign|MGI:3649262|Skint6|selection and upkeep of intraepithelial T cells 6 [Source:MGI Symbol;Acc:MGI:3649262]|Heterozygous||A|G|102|39.0|Non-synonymous|Alive
6504502|IGL01296|1|66841705|S->P|0.75|Possibly damaging|MGI:87866|Acadl|acyl-Coenzyme A dehydrogenase, long-chain [Source:MGI Symbol;Acc:MGI:87866]|Heterozygous|Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size.|A|G|87|39.0|Non-synonymous|Alive
6504503|IGL01296|9|86561879|V->A|0.91|Possibly damaging|MGI:97566|Pgm3|phosphoglucomutase 3 [Source:MGI Symbol;Acc:MGI:97566]|Heterozygous|Mice homozygous for a hypomorphic allele exhibit male infertility, anemia, leukopenia, thrombocytopenia, abnormal pancreatic and salivary gland morphology, and splenomegaly.|A|G|77|38.0|Non-synonymous|Alive
6504504|IGL01296|15|54875669|I->N|1.0|Probably damaging|MGI:1321390|Enpp2|ectonucleotide pyrophosphatase/phosphodiesterase 2 [Source:MGI Symbol;Acc:MGI:1321390]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development.|A|T|69|38.0|Non-synonymous|Alive
6504505|IGL01296|5|87460592|I->V|0.97|Probably damaging|MGI:3576095, MGI:2149905|Ugt2a2,ugt2a1|UDP glucuronosyltransferase 2 family, polypeptide A1 [Source:MGI Symbol;Acc:MGI:2149905]|Heterozygous||T|C|60|38.0|Non-synonymous|Alive
6504506|IGL01296|16|4497682|D->G|0.36|Benign|MGI:2146620|Srl|sarcalumenin [Source:MGI Symbol;Acc:MGI:2146620]|Heterozygous|Homozygous null mice exhibit impaired calcium store functions in skeletal and cardiac muscle cells resulting in slow contraction and relaxation phases. Muscle also exhibits enhanced resistance to fatigue.|T|C|54|38.0|Non-synonymous|Alive
6504507|IGL01296|13|95353971|D->G|1.0|Probably damaging|MGI:1913799|Aggf1|angiogenic factor with G patch and FHA domains 1 [Source:MGI Symbol;Acc:MGI:1913799]|Heterozygous||T|C|47|35.0|Non-synonymous|Alive
6504508|IGL01296|15|64783779|T->I|0.98|Probably damaging|MGI:1341110|Adcy8|adenylate cyclase 8 [Source:MGI Symbol;Acc:MGI:1341110]|Heterozygous|Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).|G|A|47|39.0|Non-synonymous|Alive
6504509|IGL01296|19|9557892|Y->F|0.08|Benign|MGI:3586869|Stxbp3b|syntaxin-binding protein 3B [Source:MGI Symbol;Acc:MGI:3586869]|Heterozygous||T|A|44|39.0|Non-synonymous|Alive
6504510|IGL01296|11|75312315|Y->C|0.97|Probably damaging|MGI:1915525|Rpa1|replication protein A1 [Source:MGI Symbol;Acc:MGI:1915525]|Heterozygous|Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas.|T|C|42|38.0|Non-synonymous|Alive
6504511|IGL01296|19|13314126|L->P|1.0|Probably damaging|MGI:3031299|Olfr1465|olfactory receptor 1465 [Source:MGI Symbol;Acc:MGI:3031299]|Heterozygous||A|G|40|39.0|Non-synonymous|Alive
6504512|IGL01296|3|56031536|H->Q|0.01|Benign|MGI:1347075|Nbea|neurobeachin [Source:MGI Symbol;Acc:MGI:1347075]|Heterozygous|Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.|A|T|40|40.0|Non-synonymous|Alive
6504513|IGL01296|6|108399361|F->L|1.0|Probably damaging|MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|T|C|40|39.0|Non-synonymous|Alive
6504514|IGL01296|1|28777056|I->V|0.01|Benign|MGI:2685443|Gm597|predicted gene 597 [Source:MGI Symbol;Acc:MGI:2685443]|Heterozygous||T|C|37|38.0|Non-synonymous|Alive
6504515|IGL01296|7|28089647|V->A|0.07|Benign|MGI:2444336|Fcgbp|Fc fragment of IgG binding protein [Source:MGI Symbol;Acc:MGI:2444336]|Heterozygous||T|C|33|37.0|Non-synonymous|Alive
6504516|IGL01296|5|87514956|D->G|0.05|Benign|MGI:2136282|Sult1b1|sulfotransferase family 1B, member 1 [Source:MGI Symbol;Acc:MGI:2136282]|Heterozygous||T|C|32|40.0|Non-synonymous|Alive
6504517|IGL01296|5|96673698|Q->L|0.1|Benign|MGI:2385368|Fras1|Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.|A|T|30|37.0|Non-synonymous|Alive
6504518|IGL01296|11|97836190|V->A|0.99|Probably damaging|MGI:109656|Lasp1|LIM and SH3 protein 1 [Source:MGI Symbol;Acc:MGI:109656]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background. Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail.|T|C|28|35.0|Non-synonymous|Alive
6504519|IGL01296|11|109685351|I->T|0.95|Probably damaging|MGI:2388266|Fam20a|family with sequence similarity 20, member A [Source:MGI Symbol;Acc:MGI:2388266]|Heterozygous||A|G|28|40.0|Non-synonymous|Alive
6504520|IGL01296|4|110206612|N->S||Benign|MGI:107427|Elavl4|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) [Source:MGI Symbol;Acc:MGI:107427]|Heterozygous|Mice homozygous for a null allele display increased neural progenitor self-renewal and impaired neuronal differentiation, partial penetrance of hind limb clasping, and impaired coordination.|T|C|25|39.0|Non-synonymous|Alive
6504522|IGL01296|15|91683142|I->L||Benign|MGI:1913975|Lrrk2|leucine-rich repeat kinase 2 [Source:MGI Symbol;Acc:MGI:1913975]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.|A|T|23|40.0|Non-synonymous|Alive
6504523|IGL01296|5|137796799|A->T|1.0|Probably damaging|MGI:2685899|Zcwpw1|zinc finger, CW type with PWWP domain 1 [Source:MGI Symbol;Acc:MGI:2685899]|Heterozygous||G|A|23|38.0|Non-synonymous|Alive
6504524|IGL01296|11|101291451|N->K|1.0|Probably damaging|MGI:1891828|Becn1|beclin 1, autophagy related [Source:MGI Symbol;Acc:MGI:1891828]|Heterozygous|Haploinsufficiency of this locus results in increased tumorigenesis.|A|T|21|41.0|Non-synonymous|Alive
6504525|IGL01296|16|45684574|V->A|0.99|Probably damaging|MGI:2686594|Tmprss7|transmembrane serine protease 7 [Source:MGI Symbol;Acc:MGI:2686594]|Heterozygous||A|G|20|38.5|Non-synonymous|Alive
6504526|IGL01296|4|46387589|L->P|1.0|Probably damaging|MGI:1922003|5830415f09rik|RIKEN cDNA 5830415F09 gene [Source:MGI Symbol;Acc:MGI:1922003]|Heterozygous||A|G|19|40.0|Non-synonymous|Alive
6504527|IGL01296|6|119215358|K->E|0.9|Possibly damaging|MGI:2442404|Dcp1b|DCP1 decapping enzyme homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2442404]|Heterozygous||A|G|19|39.0|Non-synonymous|Alive
6504528|IGL01296|17|34921698|T->I|0.03|Benign|MGI:1917379|Slc44a4|solute carrier family 44, member 4 [Source:MGI Symbol;Acc:MGI:1917379]|Heterozygous||C|T|18|38.0|Non-synonymous|Alive
6504529|IGL01296|17|56808317|M->L|0.96|Probably damaging|MGI:106583|Rfx2|regulatory factor X, 2 (influences HLA class II expression) [Source:MGI Symbol;Acc:MGI:106583]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive
6504530|IGL01296|7|89509887|K->E|0.63|Possibly damaging|MGI:1923703|Prss23|protease, serine, 23 [Source:MGI Symbol;Acc:MGI:1923703]|Heterozygous||T|C|18|40.0|Non-synonymous|Alive
6504531|IGL01296|1|190773678|R->H|1.0|Probably damaging|MGI:2443419|Rps6kc1|ribosomal protein S6 kinase polypeptide 1 [Source:MGI Symbol;Acc:MGI:2443419]|Heterozygous||C|T|17|36.0|Non-synonymous|Alive
6504532|IGL01296|17|36120710|D->G|||MGI:95942|H2-t10|histocompatibility 2, T region locus 10 [Source:MGI Symbol;Acc:MGI:95942]|Heterozygous||T|C|16|40.0|Non-synonymous|Alive
6504533|IGL01296|19|42284213|C->S|1.0|Probably damaging|MGI:1920082|Crtac1|cartilage acidic protein 1 [Source:MGI Symbol;Acc:MGI:1920082]|Heterozygous||A|T|15|37.0|Non-synonymous|Alive
6504534|IGL01296|7|91940059|I->N|1.0|Probably damaging|MGI:1344351|Dlg2|discs, large homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1344351]|Heterozygous|Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain.|T|A|15|39.0|Non-synonymous|Alive
6504535|IGL01296|17|67745051|N->D|||MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|A|G|13|41.0|Non-synonymous|Alive
6504536|IGL01296|4|58956690|H->R|0.98|Probably damaging|MGI:3510405|Zkscan16|zinc finger with KRAB and SCAN domains 16 [Source:MGI Symbol;Acc:MGI:3510405]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive
6504537|IGL01296|7|72228526|K->R|0.04|Benign|MGI:2685335|Mctp2|multiple C2 domains, transmembrane 2 [Source:MGI Symbol;Acc:MGI:2685335]|Heterozygous||T|C|13|39.0|Non-synonymous|Alive
6504538|IGL01296|10|59166600|V->A||Benign|MGI:1918110|Sept10|septin 10 [Source:MGI Symbol;Acc:MGI:1918110]|Heterozygous||A|G|12|38.0|Non-synonymous|Alive
6504539|IGL01296|10|106858207|I->F|0.96|Probably damaging|MGI:2443834|Ppfia2|protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 [Source:MGI Symbol;Acc:MGI:2443834]|Heterozygous||A|T|11|40.0|Non-synonymous|Alive
6504540|IGL01296|17|32166757|R->C|0.92|Possibly damaging|MGI:99460|Notch3|notch 3 [Source:MGI Symbol;Acc:MGI:99460]|Heterozygous|Homozygous null mice are viable, fertile, and show no overt phenotype. Adult homozygous null mice for one allele display a small thymus and reduced thymocyte numbers.|G|A|10|32.0|Non-synonymous|Alive
6504541|IGL01296|8|13055383|Y->F|0.84|Possibly damaging|MGI:103107|F10|coagulation factor X [Source:MGI Symbol;Acc:MGI:103107]|Heterozygous|Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages.|A|T|10|39.0|Non-synonymous|Alive
6504542|IGL01296|8|107586617|Disrupted splicing|||MGI:1351511|Psmd7|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 [Source:MGI Symbol;Acc:MGI:1351511]|Heterozygous|Homozygous mutant mice carrying a proviral insertion at this locus develop normally to the blastocyst stage but die shortly after implantation before reaching the egg cylinder stage.|T|A|108|38.0|Splice|Alive
6504543|IGL01296|8|94055671|Disrupted splicing|||MGI:2442978|Ogfod1|2-oxoglutarate and iron-dependent oxygenase domain containing 1 [Source:MGI Symbol;Acc:MGI:2442978]|Heterozygous||A|T|106|39.0|Splice|Alive
6504544|IGL01296|2|103268155|Disrupted splicing|||MGI:1270840|Ehf|ets homologous factor [Source:MGI Symbol;Acc:MGI:1270840]|Heterozygous||T|A|81|39.0|Splice|Alive
6505155|IGL01297|5|23501746|K->Stop||N/A|MGI:1924825|Mll5|myeloid/lymphoid or mixed-lineage leukemia 5 [Source:MGI Symbol;Acc:MGI:1924825]|Heterozygous|Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis.|A|T|215|38.0|Non-synonymous|Alive
6505156|IGL01297|9|38473235|M->L|||MGI:3030739|Olfr905|olfactory receptor 905 [Source:MGI Symbol;Acc:MGI:3030739]|Heterozygous||A|T|203|40.0|Non-synonymous|Alive
6505157|IGL01297|5|105082831|D->V|0.66|Possibly damaging|MGI:3605620|Gbp9|guanylate-binding protein 9 [Source:MGI Symbol;Acc:MGI:3605620]|Heterozygous||T|A|186|39.0|Non-synonymous|Alive
6505158|IGL01297|16|59216178|I->T|||MGI:3030033|Olfr199|olfactory receptor 199 [Source:MGI Symbol;Acc:MGI:3030033]|Heterozygous||A|G|170|40.0|Non-synonymous|Alive
6505159|IGL01297|19|41944575|L->P|1.0|Probably damaging|MGI:1919449|Mms19|MMS19 (MET18 S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919449]|Heterozygous||A|G|160|38.0|Non-synonymous|Alive
6505160|IGL01297|7|103358265|K->Stop||N/A|MGI:3030435|Olfr601|olfactory receptor 601 [Source:MGI Symbol;Acc:MGI:3030435]|Heterozygous||T|A|149|40.0|Non-synonymous|Alive
6505161|IGL01297|15|65941782|T->A|0.1|Benign|MGI:3615329|Hhla1|HERV-H LTR-associating 1 [Source:MGI Symbol;Acc:MGI:3615329]|Heterozygous||T|C|114|39.0|Non-synonymous|Alive
6505162|IGL01297|10|76420024|I->T|||MGI:102722|Pcnt|pericentrin (kendrin) [Source:MGI Symbol;Acc:MGI:102722]|Heterozygous|Mice homozygous for ENU mutations exhibit perinatal lethality, polydactyly, and abnormal interneuron migration. Heterozygotes exhibit sporadic seizures.|A|G|105|38.0|Non-synonymous|Alive
6505163|IGL01297|13|18841206|I->F|0.08|Benign|MGI:1929215|Vps41|vacuolar protein sorting 41 (yeast) [Source:MGI Symbol;Acc:MGI:1929215]|Heterozygous||A|T|105|39.0|Non-synonymous|Alive
6505164|IGL01297|11|46138911|Y->N|0.2|Benign|MGI:105377|Adam19|a disintegrin and metallopeptidase domain 19 (meltrin beta) [Source:MGI Symbol;Acc:MGI:105377]|Heterozygous|Homozygous null mice exhibit cardiac developmental defects and die perinatally.|T|A|96|37.0|Non-synonymous|Alive
6505165|IGL01297|3|134854903|L->P|1.0|Probably damaging|MGI:892968|Tacr3|tachykinin receptor 3 [Source:MGI Symbol;Acc:MGI:892968]|Heterozygous||T|C|89|39.0|Non-synonymous|Alive
6505166|IGL01297|7|16563722|Y->N|0.99|Probably damaging|MGI:1929494|Grlf1|glucocorticoid receptor DNA binding factor 1 [Source:MGI Symbol;Acc:MGI:1929494]|Heterozygous|Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Abnormalities are seen in the retina and in the development of the brain and nervous system.|A|T|89|37.0|Non-synonymous|Alive
6505167|IGL01297|3|127563173|A->S||Benign|MGI:1918893|4930422g04rik|RIKEN cDNA 4930422G04 gene [Source:MGI Symbol;Acc:MGI:1918893]|Heterozygous||G|T|81|40.0|Non-synonymous|Alive
6505168|IGL01297|3|54733720|T->A|0.93|Possibly damaging|MGI:1916889|Exosc8|exosome component 8 [Source:MGI Symbol;Acc:MGI:1916889]|Heterozygous||T|C|80|39.0|Non-synonymous|Alive
6505169|IGL01297|11|21711549|S->P|1.0|Probably damaging|MGI:2144467|Wdpcp|WD repeat containing planar cell polarity effector [Source:MGI Symbol;Acc:MGI:2144467]|Heterozygous||T|C|76|38.0|Non-synonymous|Alive
6505170|IGL01297|19|13365468|V->G|||MGI:3031301|Olfr1467|olfactory receptor 1467 [Source:MGI Symbol;Acc:MGI:3031301]|Heterozygous||T|G|73|39.0|Non-synonymous|Alive
6505171|IGL01297|4|100981026|R->G|0.04|Benign|MGI:2444177|Cachd1|cache domain containing 1 [Source:MGI Symbol;Acc:MGI:2444177]|Heterozygous||A|G|69|38.0|Non-synonymous|Alive
6505172|IGL01297|9|71252604|I->V||Benign|MGI:107928|Aldh1a2|aldehyde dehydrogenase family 1, subfamily A2 [Source:MGI Symbol;Acc:MGI:107928]|Heterozygous|Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.|A|G|64|40.0|Non-synonymous|Alive
6505173|IGL01297|8|65000742|I->T|0.42|Benign|MGI:2387430|Trim60|tripartite motif-containing 60 [Source:MGI Symbol;Acc:MGI:2387430]|Heterozygous||A|G|60|38.0|Non-synonymous|Alive
6505174|IGL01297|9|8956271|Q->L|0.98|Probably damaging|MGI:97567|Pgr|progesterone receptor [Source:MGI Symbol;Acc:MGI:97567]|Heterozygous|Null female mice are sterile and exhibit ovulatory defects, uterine hyperplasia, and impaired mammary development. Females lacking only isoform A are infertile but show normal mammary development, while females lacking only isoform B are fertile but present with mammary developmental defects.|A|T|60|39.0|Non-synonymous|Alive
6505175|IGL01297|3|5401810|T->A||Benign|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||A|G|47|39.0|Non-synonymous|Alive
6505176|IGL01297|10|93497502|M->L||Benign|MGI:96010|Hal|histidine ammonia lyase [Source:MGI Symbol;Acc:MGI:96010]|Heterozygous||A|T|46|37.0|Non-synonymous|Alive
6505177|IGL01297|7|105406824|K->M|1.0|Probably damaging|MGI:2664099|Cnga4|cyclic nucleotide gated channel alpha 4 [Source:MGI Symbol;Acc:MGI:2664099]|Heterozygous|Inactivation of this gene results in odor adaptation defects.|A|T|46|40.0|Non-synonymous|Alive
6505178|IGL01297|18|67847512|T->K|1.0|Probably damaging|MGI:1918049|Cep192|centrosomal protein 192 [Source:MGI Symbol;Acc:MGI:1918049]|Heterozygous||C|A|43|39.0|Non-synonymous|Alive
6505179|IGL01297|1|39986746|R->Stop||N/A|MGI:1349394|Map4k4|mitogen-activated protein kinase kinase kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1349394]|Heterozygous|Mice homozygous for disruptions in this gene die as embryos around day E9.5-10.5.|C|T|41|39.0|Non-synonymous|Alive
6505180|IGL01297|6|125312357|M->K|0.07|Benign|MGI:104875|Ltbr|lymphotoxin B receptor [Source:MGI Symbol;Acc:MGI:104875]|Heterozygous|Homozygotes for a targeted null mutation lack Peyer's patches, colon-associated lymphoid tissues, and lymph nodes. Mutants also exhibit severely reduced numbers of NK cells and increased susceptibility to Theiler's murine encephalomyelitis virus.|A|T|39|39.0|Non-synonymous|Alive
6505181|IGL01297|11|100119157|N->D|0.5|Possibly damaging|MGI:101925|Krt13|keratin 13 [Source:MGI Symbol;Acc:MGI:101925]|Heterozygous||T|C|37|40.0|Non-synonymous|Alive
6505182|IGL01297|10|9817375|T->A|0.89|Possibly damaging|MGI:1926058|Stxbp5|syntaxin binding protein 5 (tomosyn) [Source:MGI Symbol;Acc:MGI:1926058]|Heterozygous|Mice homozygous for a null allele exhibit some background sensitive prenatal lethality and increased synaptic transmission.|T|C|35|39.0|Non-synonymous|Alive
6505183|IGL01297|8|80669311|I->V|||MGI:2685641|Frem3|Fras1 related extracellular matrix protein 3 [Source:MGI Symbol;Acc:MGI:2685641]|Heterozygous||A|G|35|38.0|Non-synonymous|Alive
6505184|IGL01297|13|11752263|I->T|0.08|Benign|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|A|G|25|39.0|Non-synonymous|Alive
6505185|IGL01297|11|58758501|S->P|||MGI:3030150|Olfr316|olfactory receptor 316 [Source:MGI Symbol;Acc:MGI:3030150]|Heterozygous||T|C|22|37.0|Non-synonymous|Alive
6505186|IGL01297|2|112364186|W->C|0.93|Possibly damaging|MGI:1915282, MGI:2135960|Emc4,slc12a6|ER membrane protein complex subunit 4 [Source:MGI Symbol;Acc:MGI:1915282],Slc12a6 protein; Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q6P6P5]|Heterozygous|Homozygotes for targeted null mutations exhibit locomotor deficits, reduced exploratory activity, progressive neurodegeneration, hypertension, slow progressive deafness and failure to breed.,NO_PHENOTYPE|C|A|17|39.0|Non-synonymous|Alive
6505187|IGL01297|10|58513205|H->R||Benign|MGI:1923388|Ccdc138|coiled-coil domain containing 138 [Source:MGI Symbol;Acc:MGI:1923388]|Heterozygous||A|G|11|37.0|Non-synonymous|Alive
6505188|IGL01297|8|83933724|Disrupted splicing|||MGI:3704314, MGI:1929461|Lphn1,gm10644|predicted gene 10644 [Source:MGI Symbol;Acc:MGI:3704314],latrophilin 1 [Source:MGI Symbol;Acc:MGI:1929461]|Heterozygous|Mice homozygous for a targeted null allele at this locus are viable and fertile. Female homozygotes fail adequately to care for their litters.,NO_PHENOTYPE|A|G|139|37.0|Splice|Alive
6505189|IGL01297|7|44141563|Disrupted splicing|||MGI:891982|Klk1b16|kallikrein 1-related peptidase b16 [Source:MGI Symbol;Acc:MGI:891982]|Heterozygous||T|A|72|40.0|Splice|Alive
6505191|IGL01297|8|126444009|Disrupted splicing|||MGI:4936930|Gm17296|predicted gene, 17296 [Source:MGI Symbol;Acc:MGI:4936930]|Heterozygous||A|T|54|40.0|Splice|Alive
6505192|IGL01297|5|123181416|Disrupted splicing|||MGI:96213|Hpd|4-hydroxyphenylpyruvic acid dioxygenase [Source:MGI Symbol;Acc:MGI:96213]|Heterozygous|CBA, C3H, DBA/2, SM and AKR have the F.1 form of this soluble liver antigen; A/J, A2G, BALB/c and C57BL/10 the F.2 form. F.2 antigen induces precipitating antibodies in F.1 but not F.2 strains and vice versa. F antigen immune response requires H2 Kk or Ak alleles.|T|C|40|37.0|Splice|Alive
6505193|IGL01297|12|84868756|Disrupted splicing|||MGI:99502|Ltbp2|latent transforming growth factor beta binding protein 2 [Source:MGI Symbol;Acc:MGI:99502]|Heterozygous|Mice homozygous for disruptions in this gene die as embryos sometime around the time of implantation.|T|C|34|39.0|Splice|Alive
6505194|IGL01297|14|70707286|Disrupted splicing|||MGI:1929705|Xpo7|exportin 7 [Source:MGI Symbol;Acc:MGI:1929705]|Heterozygous||C|A|17|36.0|Splice|Alive
6505791|IGL01298|10|75333492|W->C|0.99|Probably damaging|MGI:99402|Adora2a|adenosine A2a receptor [Source:MGI Symbol;Acc:MGI:99402]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate.|G|T|105|37.0|Non-synonymous|Alive, Line Propagating
6505792|IGL01298|2|36377448|M->K|||MGI:3030172|Olfr338|olfactory receptor 338 [Source:MGI Symbol;Acc:MGI:3030172]|Heterozygous||T|A|81|39.0|Non-synonymous|Alive, Line Propagating
6505794|IGL01298|16|45664175|R->G|0.15|Benign|MGI:2686594|Tmprss7|transmembrane serine protease 7 [Source:MGI Symbol;Acc:MGI:2686594]|Heterozygous||T|C|61|34.0|Non-synonymous|Alive, Line Propagating
6505795|IGL01298|18|32123552|N->S|0.04|Benign|MGI:97771|Proc|protein C [Source:MGI Symbol;Acc:MGI:97771]|Heterozygous|Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice.|T|C|57|38.0|Non-synonymous|Alive, Line Propagating
6505796|IGL01298|1|80531245|I->F|0.99|Probably damaging|MGI:2146320|Dock10|dedicator of cytokinesis 10 [Source:MGI Symbol;Acc:MGI:2146320]|Heterozygous||T|A|54|38.0|Non-synonymous|Alive, Line Propagating
6505797|IGL01298|8|72662331|V->A||Benign|MGI:2442268|Nwd1|NACHT and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:2442268]|Heterozygous||T|C|54|37.0|Non-synonymous|Alive, Line Propagating
6505798|IGL01298|1|34560766|I->L||Benign|MGI:1270857|Prss40|protease, serine, 40 [Source:MGI Symbol;Acc:MGI:1270857]|Heterozygous||T|G|49|37.0|Non-synonymous|Alive, Line Propagating
6505799|IGL01298|19|12428673|M->T|0.15|Benign|MGI:1860266|Pfpl|pore forming protein-like [Source:MGI Symbol;Acc:MGI:1860266]|Heterozygous||T|C|47|40.0|Non-synonymous|Alive, Line Propagating
6505800|IGL01298|4|6275517|W->R|0.92|Possibly damaging|MGI:106091|Cyp7a1|cytochrome P450, family 7, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:106091]|Heterozygous|Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype.|A|T|39|40.0|Non-synonymous|Alive, Line Propagating
6505801|IGL01298|13|70604904|L->P|0.66|Possibly damaging|MGI:2385865|Bc018507|cDNA sequence BC018507 [Source:MGI Symbol;Acc:MGI:2385865]|Heterozygous||A|G|36|37.5|Non-synonymous|Alive, Line Propagating
6505802|IGL01298|10|129692029|Y->C|0.86|Possibly damaging|MGI:3030637|Olfr803|olfactory receptor 803 [Source:MGI Symbol;Acc:MGI:3030637]|Heterozygous||T|C|35|40.0|Non-synonymous|Alive, Line Propagating
6505803|IGL01298|3|126959720|V->A|0.93|Possibly damaging|MGI:88025|Ank2|ankyrin 2, brain [Source:MGI Symbol;Acc:MGI:88025]|Heterozygous|Homozygous mutation of this gene results in death by postnatal day 8, although some animals survive to P20. Mutant animals display reduced body size, impaired balance and locomotion, brain structure dysmorphologies, abnormal lens, and optic nerve degeneration.|A|G|35|37.0|Non-synonymous|Alive, Line Propagating
6505804|IGL01298|17|71716513|V->A|0.97|Probably damaging|MGI:2443498|Fam179a|family with sequence similarity 179, member A [Source:MGI Symbol;Acc:MGI:2443498]|Heterozygous||T|C|34|37.5|Non-synonymous|Alive, Line Propagating
6505805|IGL01298|8|18710528|N->T||Benign|MGI:2443308, MGI:1202890|Angpt2,mcph1|angiopoietin 2 [Source:MGI Symbol;Acc:MGI:1202890],microcephaly, primary autosomal recessive 1 [Source:MGI Symbol;Acc:MGI:2443308]|Heterozygous|Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis.,Homozygous inactivation of this gene results in impaired angiogenesis, abnormal lymphatic development and function, and ultimately postnatal lethality.|T|G|29|40.0|Non-synonymous|Alive, Line Propagating
6505806|IGL01298|12|54954809|P->Q|||MGI:1309478|Baz1a|bromodomain adjacent to zinc finger domain 1A [Source:MGI Symbol;Acc:MGI:1309478]|Heterozygous||G|T|26|41.0|Non-synonymous|Alive, Line Propagating
6505807|IGL01298|6|41178904|Y->H|||MGI:98604|Trbv19|T cell receptor beta, variable 19 [Source:MGI Symbol;Acc:MGI:98604]|Heterozygous||T|C|25|40.0|Non-synonymous|Alive, Line Propagating
6505808|IGL01298|8|71253113|E->G|0.22|Benign|MGI:1923728|Haus8|4HAUS augmin-like complex, subunit 8 [Source:MGI Symbol;Acc:MGI:1923728]|Heterozygous||T|C|25|37.0|Non-synonymous|Alive, Line Propagating
6505809|IGL01298|9|83865142|S->L|0.05|Benign|MGI:1194921|Ttk|Ttk protein kinase [Source:MGI Symbol;Acc:MGI:1194921]|Heterozygous|Mice homozygous for a floxed allele activated in oocytes exhibit reduced female fertility associated with defective spindle assembly checkpoint, premature chromosome segregation, and accelerated anaphase and polar body extrusion.|C|T|23|39.0|Non-synonymous|Alive, Line Propagating
6505810|IGL01298|14|115399188|S->G|0.91|Possibly damaging|MGI:1194894|Gpc5|glypican 5 [Source:MGI Symbol;Acc:MGI:1194894]|Heterozygous||A|G|21|35.0|Non-synonymous|Alive, Line Propagating
6505812|IGL01298|16|88825727|H->Q|||MGI:1346079, MGI:1347350, MGI:1922601|Krtap14,4930553j12rik,krtap15|RIKEN cDNA 4930553J12 gene [Source:MGI Symbol;Acc:MGI:1922601],keratin associated protein 14 [Source:MGI Symbol;Acc:MGI:1346079]|Heterozygous||A|T|17|40.0|Non-synonymous|Alive, Line Propagating
6505813|IGL01298|13|59504226|H->Y|0.32|Benign|MGI:2159437|Agtpbp1|ATP/GTP binding protein 1 [Source:MGI Symbol;Acc:MGI:2159437]|Heterozygous|Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile.|G|A|16|37.0|Non-synonymous|Alive, Line Propagating
6505814|IGL01298|17|13949858|T->S||Benign|MGI:3643198|Gm7168|predicted gene 7168 [Source:MGI Symbol;Acc:MGI:3643198]|Heterozygous||A|T|14|35.5|Non-synonymous|Alive, Line Propagating
6505815|IGL01298|15|98639853|Y->H|1.0|Probably damaging|MGI:103307|Cacnb3|calcium channel, voltage-dependent, beta 3 subunit [Source:MGI Symbol;Acc:MGI:103307]|Heterozygous||T|C|13|39.0|Non-synonymous|Alive, Line Propagating
6505816|IGL01298|11|85848094|D->Y|0.98|Probably damaging|MGI:3651161|Gm11444|predicted gene 11444 [Source:MGI Symbol;Acc:MGI:3651161]|Heterozygous||C|A|11|39.0|Non-synonymous|Alive, Line Propagating
6505817|IGL01298|16|45171673|M->T|0.66|Possibly damaging|MGI:1915091|Atg3|autophagy related 3 [Source:MGI Symbol;Acc:MGI:1915091]|Heterozygous|Mice homozygous for a conditional allele activated in T cells exhibit decreased autophagy, increased mitochondria and endoplasmic reticulum content, decreased T cell proliferation, and increased T cell apoptosis.|T|C|11|40.0|Non-synonymous|Alive, Line Propagating
6505818|IGL01298|9|39078724|T->I|0.06|Benign|MGI:3030772|Olfr938|olfactory receptor 938 [Source:MGI Symbol;Acc:MGI:3030772]|Heterozygous||G|A|10|41.0|Non-synonymous|Alive, Line Propagating
6505819|IGL01298|4|144271162|Disrupted splicing|||MGI:2156389|Pramel5|preferentially expressed antigen in melanoma like 5 [Source:MGI Symbol;Acc:MGI:2156389]|Heterozygous||A|G|33|41.0|Splice|Alive, Line Propagating
6505820|IGL01298|7|81794307|Disrupted splicing|||MGI:1933765|Btbd1|BTB (POZ) domain containing 1 [Source:MGI Symbol;Acc:MGI:1933765]|Heterozygous||G|T|16|41.0|Splice|Alive, Line Propagating
6506411|IGL01301|15|91767339|Y->N|1.0|Probably damaging|MGI:1913975|Lrrk2|leucine-rich repeat kinase 2 [Source:MGI Symbol;Acc:MGI:1913975]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy.|T|A|98|39.0|Non-synonymous|Alive
6506412|IGL01301|9|79819180|D->G|0.03|Benign|MGI:1917848|Filip1|filamin A interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917848]|Heterozygous||T|C|92|37.0|Non-synonymous|Alive
6506413|IGL01301|19|12999417|I->F|0.95|Possibly damaging|MGI:3031285|Olfr1451|olfactory receptor 1451 [Source:MGI Symbol;Acc:MGI:3031285]|Heterozygous||A|T|88|39.0|Non-synonymous|Alive
6506414|IGL01301|9|95055459|S->T|1.0|Probably damaging|MGI:2679732|Slc9a9|solute carrier family 9 (sodium/hydrogen exchanger), member 9 [Source:MGI Symbol;Acc:MGI:2679732]|Heterozygous||T|A|86|38.0|Non-synonymous|Alive
6506415|IGL01301|4|63132826|V->M|||MGI:1919950|Zfp618|zinc finger protein 618 [Source:MGI Symbol;Acc:MGI:1919950]|Heterozygous||G|A|76|38.0|Non-synonymous|Alive
6506416|IGL01301|4|115518455|L->P|1.0|Probably damaging|MGI:88611|Cyp4a10|cytochrome P450, family 4, subfamily a, polypeptide 10 [Source:MGI Symbol;Acc:MGI:88611]|Heterozygous|Mice homozygous for a null mutation display salt-sensitive hypertension, decrease sodium excretion, and decreased urine output.|T|C|73|39.0|Non-synonymous|Alive
6506417|IGL01301|8|55940962|A->E|||MGI:95749|Glra3|glycine receptor, alpha 3 subunit [Source:MGI Symbol;Acc:MGI:95749]|Heterozygous|Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord.|C|A|71|39.0|Non-synonymous|Alive
6506418|IGL01301|4|19425625|T->A|1.0|Probably damaging|MGI:1353562|Cngb3|cyclic nucleotide gated channel beta 3 [Source:MGI Symbol;Acc:MGI:1353562]|Heterozygous|Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response.|A|G|66|39.5|Non-synonymous|Alive
6506419|IGL01301|10|60185832|T->A|||MGI:1858224|Chst3|carbohydrate (chondroitin 6/keratan) sulfotransferase 3 [Source:MGI Symbol;Acc:MGI:1858224]|Heterozygous|Homozygous mutation of this gene results in significantly reduced numbers of naive T lymphocytes in the spleen at 5-6 weeks of age. Brain development and morphology is normal in mutant animals but for some alleles behavioral abnormalities are seen.|T|C|64|35.5|Non-synonymous|Alive
6506420|IGL01301|17|14943919|H->Y|0.98|Probably damaging|MGI:1915162|1600012h06rik|RIKEN cDNA 1600012H06 gene [Source:MGI Symbol;Acc:MGI:1915162]|Heterozygous||C|T|51|37.0|Non-synonymous|Alive
6506421|IGL01301|10|67909354|V->A|1.0|Probably damaging|MGI:2143676|Zfp365|zinc finger protein 365 [Source:MGI Symbol;Acc:MGI:2143676]|Heterozygous||A|G|50|35.0|Non-synonymous|Alive
6506422|IGL01301|10|68778606|N->Y|1.0|Probably damaging|MGI:2143537|Tmem26|transmembrane protein 26 [Source:MGI Symbol;Acc:MGI:2143537]|Heterozygous||A|T|45|39.0|Non-synonymous|Alive
6506423|IGL01301|17|23561417|A->D|0.97|Probably damaging|MGI:3053094|Zfp213|zinc finger protein 213 [Source:MGI Symbol;Acc:MGI:3053094]|Heterozygous||G|T|45|35.0|Non-synonymous|Alive
6506424|IGL01301|10|127169779|T->A|0.31|Benign|MGI:1342057|B4galnt1|beta-1,4-N-acetyl-galactosaminyl transferase 1 [Source:MGI Symbol;Acc:MGI:1342057]|Heterozygous|Mice homozygous for one knock-out allele lack all complex gangliosides but show normal brain histology and gross behavior with only subtle defects in neural conduction velocities. Mice homozygous for another knock-out allele exhibit male infertility due to degeneration of the seminiferous tubules.|A|G|44|35.0|Non-synonymous|Alive
6506425|IGL01301|4|152112553|A->V||Benign|MGI:2652860|Plekhg5|pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:MGI Symbol;Acc:MGI:2652860]|Heterozygous|Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact.|C|T|38|38.0|Non-synonymous|Alive
6506426|IGL01301|15|58442871|F->L|1.0|Probably damaging|MGI:1277178|D15ertd621e|DNA segment, Chr 15, ERATO Doi 621, expressed [Source:MGI Symbol;Acc:MGI:1277178]|Heterozygous||T|C|37|40.0|Non-synonymous|Alive
6506427|IGL01301|19|43902354|S->P||Benign|MGI:1917352|Dnmbp|dynamin binding protein [Source:MGI Symbol;Acc:MGI:1917352]|Heterozygous||A|G|36|39.0|Non-synonymous|Alive
6506428|IGL01301|14|55017114|A->S|0.03|Benign|MGI:1916216|Ngdn|neuroguidin, EIF4E binding protein [Source:MGI Symbol;Acc:MGI:1916216]|Heterozygous||G|T|32|40.0|Non-synonymous|Alive
6506429|IGL01301|14|45464863|E->G|1.0|Probably damaging|MGI:2385001|Fermt2|fermitin family homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2385001]|Heterozygous|Homozygous mice are embryonic lethal at or before E7.5.|T|C|31|37.0|Non-synonymous|Alive
6506430|IGL01301|2|18308834|T->A|0.99|Probably damaging|MGI:103268|Dnajc1|DnaJ (Hsp40) homolog, subfamily C, member 1 [Source:MGI Symbol;Acc:MGI:103268]|Heterozygous||T|C|30|38.5|Non-synonymous|Alive
6506431|IGL01301|2|152574751|E->G|0.88|Possibly damaging|MGI:2684967|Defb21|defensin beta 21 [Source:MGI Symbol;Acc:MGI:2684967]|Heterozygous||A|G|29|40.0|Non-synonymous|Alive
6506432|IGL01301|2|120380769|I->V|0.01|Benign|MGI:2441844|Tmem87a|transmembrane protein 87A [Source:MGI Symbol;Acc:MGI:2441844]|Heterozygous||T|C|28|41.0|Non-synonymous|Alive
6506433|IGL01301|14|64210435|Y->C|1.0|Probably damaging|MGI:106916|Msra|methionine sulfoxide reductase A [Source:MGI Symbol;Acc:MGI:106916]|Heterozygous|Mice homozygous for disruptions in this allele display an increased sensitivity to oxidative stress, reductions in related enzyme levels, and reduced life spans.|T|C|25|35.0|Non-synonymous|Alive
6506434|IGL01301|3|123548916|A->T|0.98|Probably damaging|MGI:1932544|Ndst3|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 [Source:MGI Symbol;Acc:MGI:1932544]|Heterozygous|Mice homozygous for a knockout allele exhibit decreased anxiety-related behavior, cholesterol levels and CD8+ T cells due to moderate heparan-sulfate undersulfation.|C|T|24|39.0|Non-synonymous|Alive
6506435|IGL01301|6|115611789|Y->Stop||N/A|MGI:1914277|Mkrn2|makorin, ring finger protein, 2 [Source:MGI Symbol;Acc:MGI:1914277]|Heterozygous||C|A|24|37.5|Non-synonymous|Alive
6506436|IGL01301|5|114246498|I->L|0.05|Benign|MGI:2140940|Acacb|acetyl-Coenzyme A carboxylase beta [Source:MGI Symbol;Acc:MGI:2140940]|Heterozygous|Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver.|A|T|23|39.0|Non-synonymous|Alive
6506437|IGL01301|12|3501425|T->A|||MGI:1922552|Asxl2|additional sex combs like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1922552]|Heterozygous|Mice homozygous for a severe hypomorph allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis.|A|G|21|38.0|Non-synonymous|Alive
6506438|IGL01301|10|99445151|D->G|1.0|Probably damaging|MGI:95633|Gad1-ps|glutamate decarboxylase 1, pseudogene [Source:MGI Symbol;Acc:MGI:95633]|Heterozygous||A|G|19|36.0|Non-synonymous|Alive
6506439|IGL01301|13|34884291|S->P|1.0|Probably damaging|MGI:109584|Prpf4b|PRP4 pre-mRNA processing factor 4 homolog B (yeast) [Source:MGI Symbol;Acc:MGI:109584]|Heterozygous||T|C|19|39.0|Non-synonymous|Alive
6506440|IGL01301|10|83522846|Y->C|1.0|Probably damaging|MGI:2444680|Aldh1l2|aldehyde dehydrogenase 1 family, member L2 [Source:MGI Symbol;Acc:MGI:2444680]|Heterozygous||T|C|18|36.5|Non-synonymous|Alive
6506441|IGL01301|3|95288390|L->P|1.0|Probably damaging|MGI:1922257|Fam63a|family with sequence similarity 63, member A [Source:MGI Symbol;Acc:MGI:1922257]|Heterozygous||T|C|14|38.5|Non-synonymous|Alive
6506442|IGL01301|7|3240092|S->T|0.99|Probably damaging|MGI:2676630|Nlrp12|NLR family, pyrin domain containing 12 [Source:MGI Symbol;Acc:MGI:2676630]|Heterozygous||A|T|14|38.5|Non-synonymous|Alive
6506443|IGL01301|10|77923984|L->P|0.99|Probably damaging|MGI:1351901|Trpm2|transient receptor potential cation channel, subfamily M, member 2 [Source:MGI Symbol;Acc:MGI:1351901]|Heterozygous|Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model.|A|G|13|39.0|Non-synonymous|Alive
6506444|IGL01301|17|9667970|S->P||Benign|MGI:1914793|Pabpc6|poly(A) binding protein, cytoplasmic 6 [Source:MGI Symbol;Acc:MGI:1914793]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive
6506445|IGL01301|14|65394751|Disrupted splicing|||MGI:2682318|Zfp395|zinc finger protein 395 [Source:MGI Symbol;Acc:MGI:2682318]|Heterozygous||T|A|175|38.0|Splice|Alive
6506446|IGL01301|4|137423843|Disrupted splicing|||MGI:1915118|Cela3b|chymotrypsin-like elastase family, member 3B [Source:MGI Symbol;Acc:MGI:1915118]|Heterozygous||A|T|111|36.0|Splice|Alive
6506447|IGL01301|5|23746424|Disrupted splicing|||MGI:1925947|Pus7|pseudouridylate synthase 7 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1925947]|Heterozygous||A|G|109|40.0|Splice|Alive
6506448|IGL01301|19|36569370|Disrupted splicing|||MGI:2442663|Hectd2|HECT domain containing 2 [Source:MGI Symbol;Acc:MGI:2442663]|Heterozygous||T|C|60|39.5|Splice|Alive
6506449|IGL01301|6|141932530|Disrupted splicing|||MGI:1351891|Slco1a1|solute carrier organic anion transporter family, member 1a1 [Source:MGI Symbol;Acc:MGI:1351891]|Heterozygous||A|G|54|40.0|Splice|Alive
6506450|IGL01301|17|33669168|Disrupted splicing|||MGI:1926465|Hnrnpm|heterogeneous nuclear ribonucleoprotein M [Source:MGI Symbol;Acc:MGI:1926465]|Heterozygous||C|T|41|37.0|Splice|Alive
6506451|IGL01301|6|57389667|Disrupted splicing|||MGI:2159462|Vmn1r18|vomeronasal 1 receptor 18 [Source:MGI Symbol;Acc:MGI:2159462]|Heterozygous||T|C|40|39.5|Splice|Alive
6506452|IGL01301|4|55366774|Disrupted splicing|||MGI:105128|Rad23b|RAD23b homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105128]|Heterozygous|Mice homozygous for a disruption in this gene usually die around the time of birth. Those that survive show growth retardation, eye, reproductive, behavioral, and digestive system abnormalities. They usually die within 1 year of birth.|T|C|37|38.0|Splice|Alive
6506453|IGL01301|1|144171414|Disrupted splicing|||MGI:2180585|Rgs13|regulator of G-protein signaling 13 [Source:MGI Symbol;Acc:MGI:2180585]|Heterozygous|Mice homozygous for a null allele exhibit increased mast cell degranulation and increased anaphylaxis.|T|C|34|40.0|Splice|Alive
6506454|IGL01301|1|25830648|Disrupted splicing|||MGI:3642830|Gm9884|predicted gene 9884 [Source:MGI Symbol;Acc:MGI:3642830]|Heterozygous||T|A|20|35.0|Splice|Alive
6506455|IGL01301|4|127026760|Disrupted splicing|||MGI:1918764|Sfpq|splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) [Source:MGI Symbol;Acc:MGI:1918764]|Heterozygous||T|C|17|36.0|Splice|Alive
6507050|IGL01302|10|129268523|I->F||Benign|MGI:3030611|Olfr777|olfactory receptor 777 [Source:MGI Symbol;Acc:MGI:3030611]|Heterozygous||T|A|138|40.0|Non-synonymous|Alive, Line Propagating
6507051|IGL01302|1|182974748|D->G||Benign|MGI:1858171|Tlr5|toll-like receptor 5 [Source:MGI Symbol;Acc:MGI:1858171]|Heterozygous|Mice homozygous for disruption of this gene have a generally normal phenotype. However they fail to respond immunologically to purified flagellin and are resistant to infection with Salmonella typhimurium.|A|G|104|39.0|Non-synonymous|Alive, Line Propagating
6507052|IGL01302|2|87491373|D->V|0.97|Probably damaging|MGI:2156391|Pramel7|preferentially expressed antigen in melanoma like 7 [Source:MGI Symbol;Acc:MGI:2156391]|Heterozygous||T|A|76|39.0|Non-synonymous|Alive, Line Propagating
6507053|IGL01302|7|111074713|Q->K|||MGI:109207|Eif4g2|eukaryotic translation initiation factor 4, gamma 2 [Source:MGI Symbol;Acc:MGI:109207]|Heterozygous|Mice homozygous for a targeted null mutation fail to undergo gastrulation and die by E11.5.|G|T|76|39.0|Non-synonymous|Alive, Line Propagating
6507054|IGL01302|16|50732635|C->G||Unknown|MGI:1915440|5330426p16rik|RIKEN cDNA 5330426P16 gene [Source:MGI Symbol;Acc:MGI:1915440]|Heterozygous||A|C|74|35.0|Non-synonymous|Alive, Line Propagating
6507055|IGL01302|11|84988482|T->N|||MGI:2144475|Usp32|ubiquitin specific peptidase 32 [Source:MGI Symbol;Acc:MGI:2144475]|Heterozygous||G|T|67|39.0|Non-synonymous|Alive, Line Propagating
6507056|IGL01302|5|114594453|L->Q|0.49|Possibly damaging|MGI:3605543|Bc057022|cDNA sequence BC057022 [Source:MGI Symbol;Acc:MGI:3605543]|Heterozygous||T|A|61|39.0|Non-synonymous|Alive, Line Propagating
6507057|IGL01302|3|5243568|T->K|1.0|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||C|A|55|39.0|Non-synonymous|Alive, Line Propagating
6507058|IGL01302|16|38220018|R->L|0.08|Benign|MGI:1861437|Gsk3b|glycogen synthase kinase 3 beta [Source:MGI Symbol;Acc:MGI:1861437]|Heterozygous|Mice homozygous for disruptions in this gene may die embryonically around mid-gestation or neonatally. When mice die neonatally, cleft palate and sternum are present.|G|T|51|37.0|Non-synonymous|Alive, Line Propagating
6507059|IGL01302|7|51861287|V->A|0.3|Benign|MGI:3689889|Fancf|Fanconi anemia, complementation group F [Source:MGI Symbol;Acc:MGI:3689889]|Heterozygous||A|G|47|38.0|Non-synonymous|Alive, Line Propagating
6507060|IGL01302|12|12937586|D->G|0.99|Probably damaging|MGI:97357|Mycn|v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) [Source:MGI Symbol;Acc:MGI:97357]|Heterozygous||T|C|46|39.0|Non-synonymous|Alive, Line Propagating
6507061|IGL01302|7|86915361|I->V|||MGI:3761335|Vmn2r78|vomeronasal 2, receptor 78 [Source:MGI Symbol;Acc:MGI:3761335]|Heterozygous||A|G|46|39.0|Non-synonymous|Alive, Line Propagating
6507062|IGL01302|6|56725090|H->N|1.0|Probably damaging|MGI:1926187|Avl9|AVL9 homolog (S. cerevisiase) [Source:MGI Symbol;Acc:MGI:1926187]|Heterozygous||C|A|45|39.0|Non-synonymous|Alive, Line Propagating
6507063|IGL01302|6|119722303|V->G|||MGI:2151013|Erc1|ELKS/RAB6-interacting/CAST family member 1 [Source:MGI Symbol;Acc:MGI:2151013]|Heterozygous|Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.|A|C|45|39.0|Non-synonymous|Alive, Line Propagating
6507064|IGL01302|1|154443907|V->A|||MGI:106217|Cacna1e|calcium channel, voltage-dependent, R type, alpha 1E subunit [Source:MGI Symbol;Acc:MGI:106217]|Heterozygous|Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.|A|G|39|38.0|Non-synonymous|Alive, Line Propagating
6507065|IGL01302|4|99929606|D->G|1.0|Probably damaging|MGI:97565|Pgm2|phosphoglucomutase 2 [Source:MGI Symbol;Acc:MGI:97565]|Heterozygous||A|G|39|37.0|Non-synonymous|Alive, Line Propagating
6507066|IGL01302|12|118918200|D->V|0.67|Possibly damaging|MGI:1924956|Abcb5|ATP-binding cassette, sub-family B (MDR/TAP), member 5 [Source:MGI Symbol;Acc:MGI:1924956]|Heterozygous||T|A|38|38.0|Non-synonymous|Alive, Line Propagating
6507067|IGL01302|3|86295400|C->F|1.0|Probably damaging|MGI:1933162|Lrba|LPS-responsive beige-like anchor [Source:MGI Symbol;Acc:MGI:1933162]|Heterozygous||G|T|37|38.0|Non-synonymous|Alive, Line Propagating
6507068|IGL01302|2|33454091|H->R|||MGI:1919084|Zbtb43|zinc finger and BTB domain containing 43 [Source:MGI Symbol;Acc:MGI:1919084]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive, Line Propagating
6507069|IGL01302|4|150157564|L->Q|1.0|Probably damaging|MGI:3650865|Slc2a7|solute carrier family 2 (facilitated glucose transporter), member 7 [Source:MGI Symbol;Acc:MGI:3650865]|Heterozygous||T|A|33|40.0|Non-synonymous|Alive, Line Propagating
6507070|IGL01302|14|34259727|V->I|0.57|Possibly damaging|MGI:1922948|Fam35a|family with sequence similarity 35, member A [Source:MGI Symbol;Acc:MGI:1922948]|Heterozygous||C|T|32|39.0|Non-synonymous|Alive, Line Propagating
6507071|IGL01302|5|14675999|T->A|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6507072|IGL01302|9|14357239|S->T|0.02|Benign|MGI:1919196|Endod1|endonuclease domain containing 1 [Source:MGI Symbol;Acc:MGI:1919196]|Heterozygous||A|T|32|39.0|Non-synonymous|Alive, Line Propagating
6507073|IGL01302|7|104996721|M->K|1.0|Probably damaging|MGI:3030506|Olfr672|olfactory receptor 672 [Source:MGI Symbol;Acc:MGI:3030506]|Heterozygous||A|T|31|40.0|Non-synonymous|Alive, Line Propagating
6507074|IGL01302|18|34634644|S->A|0.02|Benign|MGI:1098815|Cdc23|CDC23 cell division cycle 23 [Source:MGI Symbol;Acc:MGI:1098815]|Heterozygous||A|C|29|39.0|Non-synonymous|Alive, Line Propagating
6507075|IGL01302|5|110742048|T->A||Unknown|MGI:1276124|Ep400|E1A binding protein p400 [Source:MGI Symbol;Acc:MGI:1276124]|Heterozygous|Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube.|T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6507076|IGL01302|11|11768923|Y->C|||MGI:1342540|Ikzf1|IKAROS family zinc finger 1 [Source:MGI Symbol;Acc:MGI:1342540]|Heterozygous|Homozygous mutants have a variety of T, B, and hematopoeitic cell maturation defects. Heterozygotes for one allele exhibit dominant negative effects and mice develop lymphoproliferative disorders.|A|G|26|40.5|Non-synonymous|Alive, Line Propagating
6507077|IGL01302|1|138099631|T->I|0.45|Possibly damaging|MGI:97810|Ptprc|protein tyrosine phosphatase, receptor type, C [Source:MGI Symbol;Acc:MGI:97810]|Heterozygous|Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death.|G|A|23|40.0|Non-synonymous|Alive, Line Propagating
6507078|IGL01302|18|67858903|P->S|0.11|Benign|MGI:1918049|Cep192|centrosomal protein 192 [Source:MGI Symbol;Acc:MGI:1918049]|Heterozygous||C|T|23|40.0|Non-synonymous|Alive, Line Propagating
6507079|IGL01302|6|115246308|Y->C|0.16|Benign|MGI:109125, MGI:103020, MGI:4937116|Gm17482,syn2,timp4|tissue inhibitor of metalloproteinase 4 [Source:MGI Symbol;Acc:MGI:109125],synapsin II [Source:MGI Symbol;Acc:MGI:103020],predicted gene, 17482 [Source:MGI Symbol;Acc:MGI:4937116]|Heterozygous|Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures.,Mice homozygous for a knock-out allele show increased lethality associated with left ventricle rupture following left anterior descending coronary artery ligation. Aged mice exhibit reduced myocardial performance index, decreased coronary flow rate, and increased left ventricle thickness and weight.,NO_PHENOTYPE|T|C|23|39.0|Non-synonymous|Alive, Line Propagating
6507080|IGL01302|3|19966367|T->A|0.98|Probably damaging|MGI:88476|Cp|ceruloplasmin [Source:MGI Symbol;Acc:MGI:88476]|Heterozygous|Homozygotes for targeted null mutations exhibit progressive accumulation of stored iron in the liver, spleen, cerebellum, and brainstem, mild iron deficiency anemia, and impaired motor coordination associated with loss of brainstem dopaminergic neurons.|A|G|22|38.5|Non-synonymous|Alive, Line Propagating
6507081|IGL01302|11|115962547|T->A|1.0|Probably damaging|MGI:1927479|Sap30bp|SAP30 binding protein [Source:MGI Symbol;Acc:MGI:1927479]|Heterozygous||A|G|20|39.0|Non-synonymous|Alive, Line Propagating
6507082|IGL01302|18|11721979|S->R||Benign|MGI:2442995|Rbbp8|retinoblastoma binding protein 8 [Source:MGI Symbol;Acc:MGI:2442995]|Heterozygous|Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomas of both B and T cells.|T|A|19|38.0|Non-synonymous|Alive, Line Propagating
6507083|IGL01302|5|3970711|S->T|0.36|Benign|MGI:2178217|Akap9|A kinase (PRKA) anchor protein (yotiao) 9 [Source:MGI Symbol;Acc:MGI:2178217]|Heterozygous||T|A|19|38.0|Non-synonymous|Alive, Line Propagating
6507084|IGL01302|10|49244330|Q->L|0.97|Probably damaging|MGI:95815|Grik2|glutamate receptor, ionotropic, kainate 2 (beta 2) [Source:MGI Symbol;Acc:MGI:95815]|Heterozygous|Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration.|T|A|15|41.0|Non-synonymous|Alive, Line Propagating
6507085|IGL01302|4|3871815|Disrupted splicing|||MGI:97052|Mos|Moloney sarcoma oncogene [Source:MGI Symbol;Acc:MGI:97052]|Heterozygous|Mutations that inactivate the gene result in female infertility and an increased susceptibility to tumors. Oocytes progress through meiosis II without arrest and undergo spontaneous parthenogenetic activation. Male mice are fertile and show no spermatogenic defects.|T|C|79|37.0|Splice|Alive, Line Propagating
6507086|IGL01302|11|9399470|Disrupted splicing|||MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||T|A|60|39.0|Splice|Alive, Line Propagating
6507087|IGL01302|12|73288525|Disrupted splicing|||MGI:3648156|Slc38a6|solute carrier family 38, member 6 [Source:MGI Symbol;Acc:MGI:3648156]|Heterozygous||T|A|50|38.0|Splice|Alive, Line Propagating
6507088|IGL01302|12|112634736|Disrupted splicing|||MGI:87947|Adssl1|adenylosuccinate synthetase like 1 [Source:MGI Symbol;Acc:MGI:87947]|Heterozygous||T|C|45|36.0|Splice|Alive, Line Propagating
6507089|IGL01302|18|77047167|Disrupted splicing|||MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||T|C|45|37.0|Splice|Alive, Line Propagating
6507090|IGL01302|17|15553346|Disrupted splicing|||MGI:2384854|Prdm9|PR domain containing 9 [Source:MGI Symbol;Acc:MGI:2384854]|Heterozygous|Homozygous null mice display male and female infertility, meitotic arrest, azoospermia, oocyte depletion, and reduced testis weight.|G|T|42|39.0|Splice|Alive, Line Propagating
6507091|IGL01302|10|127017034|Disrupted splicing|||MGI:1333798|Avil|advillin [Source:MGI Symbol;Acc:MGI:1333798]|Heterozygous|Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice.|T|C|27|37.0|Splice|Alive, Line Propagating
6507092|IGL01302|2|24396787|Disrupted splicing|||MGI:2674093|Psd4|pleckstrin and Sec7 domain containing 4 [Source:MGI Symbol;Acc:MGI:2674093]|Heterozygous||T|A|15|38.0|Splice|Alive, Line Propagating
6507093|IGL01302|6|113704024|Disrupted splicing|||MGI:3576210|Tatdn2|TatD DNase domain containing 2 [Source:MGI Symbol;Acc:MGI:3576210]|Heterozygous||T|A|14|39.5|Splice|Alive, Line Propagating
6507094|IGL01302|14|18011056|Disrupted splicing|||MGI:98743|Thrb|thyroid hormone receptor beta [Source:MGI Symbol;Acc:MGI:98743]|Heterozygous|Mice homozygous for a knock-out allele exhibit elevated T3, T4, and TSH serum levels, abnormal ear morphology, deafness, and abnormal thyroid morphology. Mice homozygous for allele with point mutations exhibit disruption in thyroid hormone sensitivity.|A|G|13|39.0|Splice|Alive, Line Propagating
6507704|IGL01303|7|141752395|I->V||Unknown|MGI:1339364|Muc2|mucin 2 [Source:MGI Symbol;Acc:MGI:1339364]|Heterozygous|Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year.|A|G|175|38.0|Non-synonymous|Alive
6507705|IGL01303|5|114786002|H->L|0.98|Probably damaging|MGI:1915670|Ankrd13a|ankyrin repeat domain 13a [Source:MGI Symbol;Acc:MGI:1915670]|Heterozygous||A|T|164|38.0|Non-synonymous|Alive
6507706|IGL01303|14|70895852|V->I|0.15|Benign|MGI:1195462|Gfra2|glial cell line derived neurotrophic factor family receptor alpha 2 [Source:MGI Symbol;Acc:MGI:1195462]|Heterozygous|Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression.|G|A|123|37.0|Non-synonymous|Alive
6507707|IGL01303|11|74121334|F->C|1.0|Probably damaging|MGI:3030235|Olfr401|olfactory receptor 401 [Source:MGI Symbol;Acc:MGI:3030235]|Heterozygous||T|G|113|39.0|Non-synonymous|Alive
6507708|IGL01303|5|41817599|V->A||Benign|MGI:2444804|Bod1l|biorientation of chromosomes in cell division 1-like [Source:MGI Symbol;Acc:MGI:2444804]|Heterozygous||A|G|69|39.0|Non-synonymous|Alive
6507709|IGL01303|12|103161867|Q->K|0.02|Benign|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||C|A|60|39.0|Non-synonymous|Alive
6507710|IGL01303|11|102357964|T->A|0.68|Possibly damaging|MGI:109393|Slc4a1|solute carrier family 4 (anion exchanger), member 1 [Source:MGI Symbol;Acc:MGI:109393]|Heterozygous|Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality.|T|C|51|37.0|Non-synonymous|Alive
6507711|IGL01303|2|71129706|K->E|1.0|Probably damaging|MGI:2654575|Cybrd1|cytochrome b reductase 1 [Source:MGI Symbol;Acc:MGI:2654575]|Heterozygous|Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet.|A|G|45|39.0|Non-synonymous|Alive
6507712|IGL01303|2|155834442|L->P|1.0|Probably damaging|MGI:1918655|Fam83c|family with sequence similarity 83, member C [Source:MGI Symbol;Acc:MGI:1918655]|Heterozygous||A|G|42|38.5|Non-synonymous|Alive
6507713|IGL01303|6|143180666|I->S|0.99|Probably damaging|MGI:1922570|Etnk1|ethanolamine kinase 1 [Source:MGI Symbol;Acc:MGI:1922570]|Heterozygous||T|G|41|38.0|Non-synonymous|Alive
6507714|IGL01303|1|163080575|I->T|||MGI:1925508|Armc11|armadillo repeat containing 11 [Source:MGI Symbol;Acc:MGI:1925508]|Heterozygous||A|G|39|39.0|Non-synonymous|Alive
6507715|IGL01303|11|101294985|D->G|0.02|Benign|MGI:1891828|Becn1|beclin 1, autophagy related [Source:MGI Symbol;Acc:MGI:1891828]|Heterozygous|Haploinsufficiency of this locus results in increased tumorigenesis.|T|C|38|35.0|Non-synonymous|Alive
6507716|IGL01303|7|131194331|T->A||Unknown|MGI:1918645|5430419d17rik|RIKEN cDNA 5430419D17 gene [Source:MGI Symbol;Acc:MGI:1918645]|Heterozygous||A|G|37|39.0|Non-synonymous|Alive
6507717|IGL01303|9|90171734|I->L|0.94|Possibly damaging|MGI:1347346|Adamts7|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7 [Source:MGI Symbol;Acc:MGI:1347346]|Heterozygous||A|C|34|39.0|Non-synonymous|Alive
6507718|IGL01303|4|115068292|V->A|0.56|Possibly damaging|MGI:98480|Tal1|T cell acute lymphocytic leukemia 1 [Source:MGI Symbol;Acc:MGI:98480]|Heterozygous|Homozygous targeted null mutants show retarded growth, edema, lack yolk sac hematopoiesis and die at embryonic day 9.5-10.5. Conditional mutants show loss of megakaryocyte and erhythrocyte progenitors resulting in low hematocrit and platelet count.|T|C|32|38.5|Non-synonymous|Alive
6507719|IGL01303|15|86030491|A->T|0.99|Probably damaging|MGI:1100883|Celsr1|cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1100883]|Heterozygous|Both heterozygous and homozygous mutant mice show an inner ear defect characterized by the disorganization of hair cells. Additionally, homozygous mutant mice exhibit severe neural tube defects and impaired lung branching morphogenesis.|C|T|31|37.0|Non-synonymous|Alive
6507720|IGL01303|19|4659482|T->A|||MGI:2685806|Gm960|predicted gene 960 [Source:MGI Symbol;Acc:MGI:2685806]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive
6507721|IGL01303|14|34146657|I->F|0.08|Benign|MGI:105374|Ppyr1|pancreatic polypeptide receptor 1 [Source:MGI Symbol;Acc:MGI:105374]|Heterozygous|Mice homozygous for a null allele exhibit decreased weight, increased drinking behavior, decreased food intake, aggression towards other mice, decreased white adipose tissue, and accelerated lobuloalveolar development during pregnancy.|T|A|25|39.0|Non-synonymous|Alive
6507722|IGL01303|4|106747593|N->S|0.05|Benign|MGI:2657115|Fam151a|family with sequence simliarity 151, member A [Source:MGI Symbol;Acc:MGI:2657115]|Heterozygous||A|G|23|38.0|Non-synonymous|Alive
6507723|IGL01303|5|121865928|F->L|1.0|Probably damaging|MGI:107321|Cux2|cut-like homeobox 2 [Source:MGI Symbol;Acc:MGI:107321]|Heterozygous|Homozygotes for a targeted null mutation exhibit various neural defects.|A|T|22|37.0|Non-synonymous|Alive
6507724|IGL01303|10|81181943|V->E|1.0|Probably damaging|MGI:95288|Eef2|eukaryotic translation elongation factor 2 [Source:MGI Symbol;Acc:MGI:95288]|Heterozygous||T|A|21|34.0|Non-synonymous|Alive
6507725|IGL01303|10|81181982|D->V|0.12|Benign|MGI:95288|Eef2|eukaryotic translation elongation factor 2 [Source:MGI Symbol;Acc:MGI:95288]|Heterozygous||A|T|20|32.5|Non-synonymous|Alive
6507727|IGL01303|6|115472954|V->L|0.53|Possibly damaging|MGI:97747|Pparg|peroxisome proliferator activated receptor gamma [Source:MGI Symbol;Acc:MGI:97747]|Heterozygous|Homozygotes for targeted null mutations exhibit lethality due to placental defects. Heterozygotes show greater B cell proliferation, enhanced leptin secretion, and resistance to diet-induced adipocyte hypertrophy and insulin resistance.|G|T|20|39.0|Non-synonymous|Alive
6507728|IGL01303|11|6598279|E->A|0.21|Benign|MGI:3603030|Nacad|NAC alpha domain containing [Source:MGI Symbol;Acc:MGI:3603030]|Heterozygous||T|G|19|35.0|Non-synonymous|Alive
6507729|IGL01303|9|97483075|Y->Stop||N/A|MGI:1929897|Clstn2|calsyntenin 2 [Source:MGI Symbol;Acc:MGI:1929897]|Heterozygous||A|T|19|41.0|Non-synonymous|Alive
6507730|IGL01303|1|57388553|Y->Stop||N/A|MGI:1915986|Tyw5|tRNA-yW synthesizing protein 5 [Source:MGI Symbol;Acc:MGI:1915986]|Heterozygous||A|T|18|39.0|Non-synonymous|Alive
6507731|IGL01303|15|6708638|N->D|0.02|Benign|MGI:1926007|Rictor|RPTOR independent companion of MTOR, complex 2 [Source:MGI Symbol;Acc:MGI:1926007]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology.|A|G|16|37.0|Non-synonymous|Alive
6507732|IGL01303|7|116373803|D->G|||MGI:1203729|Pik3c2a|phosphatidylinositol 3-kinase, C2 domain containing, alpha polypeptide [Source:MGI Symbol;Acc:MGI:1203729]|Heterozygous|Mice homozygous for a gene trap allele exhibit chronic renal failure and a range of renal lesions that precedes immune involvement.|T|C|15|41.0|Non-synonymous|Alive
6507733|IGL01303|7|64210830|Disrupted splicing|||MGI:1330305|Trpm1|transient receptor potential cation channel, subfamily M, member 1 [Source:MGI Symbol;Acc:MGI:1330305]|Heterozygous|Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses.|T|A|41|39.0|Splice|Alive
6507734|IGL01303|10|7154281|Disrupted splicing|||MGI:2674130|Cnksr3|Cnksr family member 3 [Source:MGI Symbol;Acc:MGI:2674130]|Heterozygous||A|G|33|39.0|Splice|Alive
6507735|IGL01303|9|65055012|Disrupted splicing|||MGI:1921638|Dpp8|dipeptidylpeptidase 8 [Source:MGI Symbol;Acc:MGI:1921638]|Heterozygous||A|T|19|40.0|Splice|Alive
6507736|IGL01303|9|42024478|Disrupted splicing|||MGI:1202296|Sorl1|sortilin-related receptor, LDLR class A repeats-containing [Source:MGI Symbol;Acc:MGI:1202296]|Heterozygous|Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain.|A|G|17|37.0|Splice|Alive
6508348|IGL01304|16|14706771|I->T|0.01|Benign|MGI:1096393|Snai2|snail homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1096393]|Heterozygous|Mutations in this gene result in growth retardation and eyelid deformities.|T|C|264|39.0|Non-synonymous|Alive, Line Propagating
6508349|IGL01304|18|58061745|E->G|0.98|Probably damaging|MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|T|C|171|38.0|Non-synonymous|Alive, Line Propagating
6508350|IGL01304|10|127813496|A->S||Benign|MGI:1201375|Rdh16|retinol dehydrogenase 16 [Source:MGI Symbol;Acc:MGI:1201375]|Heterozygous||G|T|154|39.0|Non-synonymous|Alive, Line Propagating
6508351|IGL01304|9|110256168|L->H|1.0|Probably damaging|MGI:1352747|Cspg5|chondroitin sulfate proteoglycan 5 [Source:MGI Symbol;Acc:MGI:1352747]|Heterozygous|Homozygous null mice display decreased spontaneous postsynaptic currents, increased paired-pulse ratios, and reduced long term depression during early postnatal developmental stages.|T|A|138|39.0|Non-synonymous|Alive, Line Propagating
6508352|IGL01304|10|45317909|S->A||Benign|MGI:1930153|Popdc3|popeye domain containing 3 [Source:MGI Symbol;Acc:MGI:1930153]|Heterozygous||T|G|114|39.0|Non-synonymous|Alive, Line Propagating
6508353|IGL01304|1|75428197|F->L||Benign|MGI:109282|Speg|SPEG complex locus [Source:MGI Symbol;Acc:MGI:109282]|Heterozygous|Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.|T|C|104|39.0|Non-synonymous|Alive, Line Propagating
6508354|IGL01304|2|90282081|P->S|||MGI:3031106|Olfr1272|olfactory receptor 1272 [Source:MGI Symbol;Acc:MGI:3031106]|Heterozygous||G|A|89|37.0|Non-synonymous|Alive, Line Propagating
6508356|IGL01304|9|49026819|D->G|0.55|Possibly damaging|MGI:2442293|Usp28|ubiquitin specific peptidase 28 [Source:MGI Symbol;Acc:MGI:2442293]|Heterozygous||A|G|82|39.0|Non-synonymous|Alive, Line Propagating
6508357|IGL01304|19|57215721|D->E||Benign|MGI:1194500|Ablim1|actin-binding LIM protein 1 [Source:MGI Symbol;Acc:MGI:1194500]|Heterozygous|Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.|A|T|79|38.0|Non-synonymous|Alive, Line Propagating
6508358|IGL01304|14|75592645|D->V|0.34|Benign|MGI:1915176|Spert|spermatid associated [Source:MGI Symbol;Acc:MGI:1915176]|Heterozygous||T|A|76|37.5|Non-synonymous|Alive, Line Propagating
6508359|IGL01304|2|104787631|Q->H|1.0|Probably damaging|MGI:2138986|Qser1|glutamine and serine rich 1 [Source:MGI Symbol;Acc:MGI:2138986]|Heterozygous||C|A|72|40.0|Non-synonymous|Alive, Line Propagating
6508360|IGL01304|1|186625473|I->S|0.99|Probably damaging|MGI:98726|Tgfb2|transforming growth factor, beta 2 [Source:MGI Symbol;Acc:MGI:98726]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lungs, skull, limbs, spinal column, eyes, inner ears, and urogenital system, and perinatal mortality. Heterozygotes show abnormalities of the Cowpers' gland and intestinal mucosa.|A|C|67|40.0|Non-synonymous|Alive, Line Propagating
6508361|IGL01304|4|132459619|A->S|1.0|Probably damaging|MGI:1914469|Med18|mediator of RNA polymerase II transcription, subunit 18 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1914469]|Heterozygous||C|A|63|39.0|Non-synonymous|Alive, Line Propagating
6508362|IGL01304|6|142242150|Q->K||Benign|MGI:1351865|Slco1a5|solute carrier organic anion transporter family, member 1a5 [Source:MGI Symbol;Acc:MGI:1351865]|Heterozygous|Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood.|G|T|60|39.0|Non-synonymous|Alive, Line Propagating
6508363|IGL01304|9|44319587|N->S|0.01|Benign|MGI:1919014|C2cd2l|C2 calcium-dependent domain containing 2-like [Source:MGI Symbol;Acc:MGI:1919014]|Heterozygous||T|C|56|37.5|Non-synonymous|Alive, Line Propagating
6508364|IGL01304|17|32883006|C->S|||MGI:3029586|Zfp870|zinc finger protein 870 [Source:MGI Symbol;Acc:MGI:3029586]|Heterozygous||A|T|55|37.0|Non-synonymous|Alive, Line Propagating
6508365|IGL01304|1|150622924|G->D|0.47|Possibly damaging|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||C|T|54|40.0|Non-synonymous|Alive, Line Propagating
6508366|IGL01304|5|143254426|F->L|||MGI:1860402|Zfp316|zinc finger protein 316 [Source:MGI Symbol;Acc:MGI:1860402]|Heterozygous||A|G|48|37.5|Non-synonymous|Alive, Line Propagating
6508367|IGL01304|11|79027642|Q->R|1.0|Probably damaging|MGI:105051|Ksr1|kinase suppressor of ras 1 [Source:MGI Symbol;Acc:MGI:105051]|Heterozygous|Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation.|T|C|44|36.0|Non-synonymous|Alive, Line Propagating
6508368|IGL01304|7|27655985|D->N||Benign|MGI:1920282|Ttc9b|tetratricopeptide repeat domain 9B [Source:MGI Symbol;Acc:MGI:1920282]|Heterozygous||G|A|43|39.0|Non-synonymous|Alive, Line Propagating
6508369|IGL01304|13|36988878|D->G|0.08|Benign|MGI:1921395|F13a1|coagulation factor XIII, A1 subunit [Source:MGI Symbol;Acc:MGI:1921395]|Heterozygous|Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility.|T|C|42|37.5|Non-synonymous|Alive, Line Propagating
6508370|IGL01304|6|119918633|E->G|1.0|Probably damaging|MGI:101949|Rad52|RAD52 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:101949]|Heterozygous|Mice homozygous for a null allele exhibit normal reproductive and immune systems.|A|G|41|38.0|Non-synonymous|Alive, Line Propagating
6508371|IGL01304|14|69718613|P->L|0.31|Benign|MGI:1913922|Chmp7|charged multivesicular body protein 7 [Source:MGI Symbol;Acc:MGI:1913922]|Heterozygous||G|A|38|40.0|Non-synonymous|Alive, Line Propagating
6508372|IGL01304|2|25563576|T->A|0.02|Benign|MGI:2685841|Mamdc4|MAM domain containing 4 [Source:MGI Symbol;Acc:MGI:2685841]|Heterozygous||T|C|37|36.0|Non-synonymous|Alive, Line Propagating
6508373|IGL01304|3|106731733|P->S|1.0|Probably damaging|MGI:2445214|Lrif1|ligand dependent nuclear receptor interacting factor 1 [Source:MGI Symbol;Acc:MGI:2445214]|Heterozygous||C|T|37|39.0|Non-synonymous|Alive, Line Propagating
6508374|IGL01304|12|59104538|E->K|0.93|Possibly damaging|MGI:2159614|Mia2|melanoma inhibitory activity 2 [Source:MGI Symbol;Acc:MGI:2159614]|Heterozygous||G|A|36|40.0|Non-synonymous|Alive, Line Propagating
6508375|IGL01304|2|122072290|Y->C|0.99|Probably damaging|MGI:2444989|Spg11|spastic paraplegia 11 [Source:MGI Symbol;Acc:MGI:2444989]|Heterozygous||T|C|35|40.0|Non-synonymous|Alive, Line Propagating
6508376|IGL01304|11|33266147|V->A|0.36|Benign|MGI:1929706|Ranbp17|RAN binding protein 17 [Source:MGI Symbol;Acc:MGI:1929706]|Heterozygous||A|G|34|40.0|Non-synonymous|Alive, Line Propagating
6508377|IGL01304|3|95448385|D->E|1.0|Probably damaging|MGI:88071|Arnt|aryl hydrocarbon receptor nuclear translocator [Source:MGI Symbol;Acc:MGI:88071]|Heterozygous|Homozygotes for targeted null mutations exhibit loss of aryl hydrocarbon receptor and hypoxia-inducible factor 1 alpha gene induction, defective angiogenesis of the yolk sac and branchial arches, placental defects, and lethality by embryonic day 10.5.|T|G|33|39.0|Non-synonymous|Alive, Line Propagating
6508378|IGL01304|3|142781598|S->L|0.03|Benign|MGI:2385191|Gtf2b|general transcription factor IIB [Source:MGI Symbol;Acc:MGI:2385191]|Heterozygous||C|T|33|39.0|Non-synonymous|Alive, Line Propagating
6508379|IGL01304|6|87641900|S->A|0.92|Possibly damaging|MGI:1919353|Aplf|aprataxin and PNKP like factor [Source:MGI Symbol;Acc:MGI:1919353]|Heterozygous|Mice homozygous for a gene trap allele exhibit decreased repair of gamma irradiation-induced DNA damage and increased microhomology at class switch recombination junctions in B cells.|A|C|33|37.0|Non-synonymous|Alive, Line Propagating
6508380|IGL01304|19|3467261|M->K|||MGI:1921807|Ppp6r3|protein phosphatase 6, regulatory subunit 3 [Source:MGI Symbol;Acc:MGI:1921807]|Heterozygous||A|T|32|37.0|Non-synonymous|Alive, Line Propagating
6508381|IGL01304|17|65638453|E->G|||MGI:2389312|Txndc2|thioredoxin domain containing 2 (spermatozoa) [Source:MGI Symbol;Acc:MGI:2389312]|Heterozygous|Homozygous mutation of this gene results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge.|T|C|31|35.0|Non-synonymous|Alive, Line Propagating
6508382|IGL01304|11|74842185|Y->N|1.0|Probably damaging|MGI:109150|Mnt|max binding protein [Source:MGI Symbol;Acc:MGI:109150]|Heterozygous|Most homozygotes for a targeted null mutation are runted at birth and die within a few days, while mutant fibroblasts show abnormal cell cycling. Those homozygotes that survive are fertile and attain normal Heterozygotes for a conditional mammary epithelial specific knockout develop adenocarcinomas.|T|A|29|38.0|Non-synonymous|Alive, Line Propagating
6508383|IGL01304|19|61226833|H->Y|0.23|Benign|MGI:1339754|Csf2ra|colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) [Source:MGI Symbol;Acc:MGI:1339754]|Heterozygous||G|A|29|33.0|Non-synonymous|Alive, Line Propagating
6508384|IGL01304|12|87453915|D->G|||MGI:1913604|Snw1|SNW domain containing 1 [Source:MGI Symbol;Acc:MGI:1913604]|Heterozygous||T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6508385|IGL01304|15|64312449|E->G|1.0|Probably damaging|MGI:1342335|Asap1|ArfGAP with SH3 domain, ankyrin repeat and PH domain1 [Source:MGI Symbol;Acc:MGI:1342335]|Heterozygous||T|C|27|35.0|Non-synonymous|Alive, Line Propagating
6508386|IGL01304|7|12042035|V->A|0.99|Probably damaging|MGI:3779641|Vmn1r77|vomeronasal 1 receptor 77 [Source:MGI Symbol;Acc:MGI:3779641]|Heterozygous||T|C|22|39.5|Non-synonymous|Alive, Line Propagating
6508387|IGL01304|2|73287724|Disrupted splicing|||MGI:1914185|Cir1|corepressor interacting with RBPJ, 1 [Source:MGI Symbol;Acc:MGI:1914185]|Heterozygous||A|T|159|39.0|Splice|Alive, Line Propagating
6508388|IGL01304|1|59149519|Disrupted splicing|||MGI:2386681|Mpp4|membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) [Source:MGI Symbol;Acc:MGI:2386681]|Heterozygous|Homozygotes for mutations display sporadic photorecptor displacement. Correct protein localization at the presynaptic photoreceptor membrane.|A|C|123|38.0|Splice|Alive, Line Propagating
6508389|IGL01304|5|76266355|Disrupted splicing|||MGI:99698|Clock|circadian locomotor output cycles kaput [Source:MGI Symbol;Acc:MGI:99698]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal circadian phase. Mice homozygous for a spontaneous mutation exhibit abnormal circadian rhythm, reproduction, behavior, hair cycle, macronutrient absorption, and metabolism.|A|G|33|39.0|Splice|Alive, Line Propagating
6508390|IGL01304|10|77076141|Disrupted splicing|||MGI:88451|Col18a1|collagen, type XVIII, alpha 1 [Source:MGI Symbol;Acc:MGI:88451]|Heterozygous|Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.|T|G|25|40.0|Splice|Alive, Line Propagating
6508391|IGL01304|9|66231857|Disrupted splicing|||MGI:1341297|Dapk2|death-associated protein kinase 2 [Source:MGI Symbol;Acc:MGI:1341297]|Heterozygous||T|C|25|37.0|Splice|Alive, Line Propagating
6509019|IGL01305|12|103001871|S->G|0.89|Possibly damaging|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||A|G|112|40.0|Non-synonymous|Alive, Line Propagating
6509020|IGL01305|18|77254662|G->D|1.0|Probably damaging|MGI:109243|St8sia5|ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Source:MGI Symbol;Acc:MGI:109243]|Heterozygous||G|A|109|35.0|Non-synonymous|Alive, Line Propagating
6509021|IGL01305|9|54728186|V->L|0.99|Probably damaging|MGI:1917493|Wdr61|WD repeat domain 61 [Source:MGI Symbol;Acc:MGI:1917493]|Heterozygous||C|A|97|39.0|Non-synonymous|Alive, Line Propagating
6509022|IGL01305|17|29263888|V->F|1.0|Probably damaging|MGI:1916066|Ppil1|peptidylprolyl isomerase (cyclophilin)-like 1 [Source:MGI Symbol;Acc:MGI:1916066]|Heterozygous||C|A|95|36.0|Non-synonymous|Alive, Line Propagating
6509023|IGL01305|14|57943625|D->V|1.0|Probably damaging|MGI:1915764|Efha1|EF hand domain family A1 [Source:MGI Symbol;Acc:MGI:1915764]|Heterozygous||T|A|94|39.0|Non-synonymous|Alive, Line Propagating
6509024|IGL01305|8|55871844|H->L|||MGI:2676326|Adam29|a disintegrin and metallopeptidase domain 29 [Source:MGI Symbol;Acc:MGI:2676326]|Heterozygous||T|A|80|40.0|Non-synonymous|Alive, Line Propagating
6509025|IGL01305|15|82371668|T->I|1.0|Probably damaging|MGI:1929474|Cyp2d22|cytochrome P450, family 2, subfamily d, polypeptide 22 [Source:MGI Symbol;Acc:MGI:1929474]|Heterozygous||G|A|71|37.0|Non-synonymous|Alive, Line Propagating
6509026|IGL01305|4|106572278|F->L|0.23|Benign|MGI:1922004|Dhcr24|24-dehydrocholesterol reductase [Source:MGI Symbol;Acc:MGI:1922004]|Heterozygous|In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility.|T|C|55|38.0|Non-synonymous|Alive, Line Propagating
6509027|IGL01305|2|111621201|N->S|1.0|Probably damaging|MGI:3031131|Olfr1297|olfactory receptor 1297 [Source:MGI Symbol;Acc:MGI:3031131]|Heterozygous||T|C|51|40.0|Non-synonymous|Alive, Line Propagating
6509028|IGL01305|7|27357387|R->Stop||N/A|MGI:5141944|Gm20479,spnb4|predicted gene 20479 [Source:MGI Symbol;Acc:MGI:5141944],spectrin beta 4 [Source:MGI Symbol;Acc:MGI:1890574]|Heterozygous|Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.,NO_PHENOTYPE|G|A|49|35.0|Non-synonymous|Alive, Line Propagating
6509029|IGL01305|6|85707588|L->Stop||N/A|MGI:3782661|Gm4477|predicted gene 4477 [Source:MGI Symbol;Acc:MGI:3782661]|Heterozygous||A|T|47|40.0|Non-synonymous|Alive, Line Propagating
6509030|IGL01305|9|56487650|D->V|1.0|Probably damaging|MGI:1914117|Hmg20a|high mobility group 20A [Source:MGI Symbol;Acc:MGI:1914117]|Heterozygous||A|T|46|40.0|Non-synonymous|Alive, Line Propagating
6509031|IGL01305|4|88393547|Q->K|0.05|Benign|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||C|A|45|39.0|Non-synonymous|Alive, Line Propagating
6509032|IGL01305|10|60312624|T->A|||MGI:1890219|Cdh23|cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|T|C|42|37.0|Non-synonymous|Alive, Line Propagating
6509033|IGL01305|11|58455262|M->K|0.99|Probably damaging|MGI:109305|Olfr30|olfactory receptor 30 [Source:MGI Symbol;Acc:MGI:109305]|Heterozygous||A|T|42|39.0|Non-synonymous|Alive, Line Propagating
6509034|IGL01305|5|130669551|E->G|||MGI:2155987|Caln1|calneuron 1 [Source:MGI Symbol;Acc:MGI:2155987]|Heterozygous||A|G|41|40.0|Non-synonymous|Alive, Line Propagating
6509035|IGL01305|13|13678056|R->C|||MGI:107448|Lyst|lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]|Heterozygous|Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells.|C|T|39|39.0|Non-synonymous|Alive, Line Propagating
6509036|IGL01305|4|70380235|I->F|0.56|Possibly damaging|MGI:2384875|Cdk5rap2|CDK5 regulatory subunit associated protein 2 [Source:MGI Symbol;Acc:MGI:2384875]|Heterozygous|Homozygous mutant phenotype varies by strain background. Severely affected mutants exhibit small size, severe anemia, and neonatal death. Mildly affected mutants are viable with mild macrocytic anemia, reduced fertility and radiation senstitivity.|T|A|39|39.0|Non-synonymous|Alive, Line Propagating
6509037|IGL01305|15|55048274|E->G|1.0|Probably damaging|MGI:2443028|Taf2|TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor [Source:MGI Symbol;Acc:MGI:2443028]|Heterozygous||T|C|37|39.0|Non-synonymous|Alive, Line Propagating
6509038|IGL01305|5|98275316|Y->H|1.0|Probably damaging|MGI:95519|Fgf5|fibroblast growth factor 5 [Source:MGI Symbol;Acc:MGI:95519]|Heterozygous|Mutations in this gene result in significantly longer pelage hair.|T|C|36|36.5|Non-synonymous|Alive, Line Propagating
6509039|IGL01305|10|128408762|I->F|0.51|Possibly damaging|MGI:1917167|Nabp2|nucleic acid binding protein 2 [Source:MGI Symbol;Acc:MGI:1917167]|Heterozygous||T|A|33|37.0|Non-synonymous|Alive, Line Propagating
6509040|IGL01305|16|59529227|H->L|||MGI:2676311|Crybg3|beta-gamma crystallin domain containing 3 [Source:MGI Symbol;Acc:MGI:2676311]|Heterozygous||T|A|33|38.0|Non-synonymous|Alive, Line Propagating
6509041|IGL01305|11|33555055|T->A|1.0|Probably damaging|MGI:2387597|Gabrp|gamma-aminobutyric acid (GABA) A receptor, pi [Source:MGI Symbol;Acc:MGI:2387597]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|C|32|38.5|Non-synonymous|Alive, Line Propagating
6509042|IGL01305|15|81913714|E->G|0.52|Possibly damaging|MGI:87880|Aco2|aconitase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:87880]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6509043|IGL01305|6|134718861|S->T||Benign|MGI:1917936|Dusp16|dual specificity phosphatase 16 [Source:MGI Symbol;Acc:MGI:1917936]|Heterozygous||A|T|32|38.0|Non-synonymous|Alive, Line Propagating
6509044|IGL01305|11|50859519|D->V|0.12|Benign|MGI:1351343|Grm6|glutamate receptor, metabotropic 6 [Source:MGI Symbol;Acc:MGI:1351343]|Heterozygous|Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude.|A|T|31|31.0|Non-synonymous|Alive, Line Propagating
6509045|IGL01305|1|161781838|V->A|1.0|Probably damaging|MGI:99255|Fasl|Fas ligand (TNF superfamily, member 6) [Source:MGI Symbol;Acc:MGI:99255]|Heterozygous|Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia.|A|G|27|38.0|Non-synonymous|Alive, Line Propagating
6509046|IGL01305|2|58025342|K->Stop||N/A|MGI:2179403|Galnt5|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 [Source:MGI Symbol;Acc:MGI:2179403]|Heterozygous|An unpublished knockout mutation is reported to have no overt phenotypic consequences.|A|T|27|39.0|Non-synonymous|Alive, Line Propagating
6509047|IGL01305|15|59355839|K->Stop||N/A|MGI:2146110|E430025e21rik|RIKEN cDNA E430025E21 gene [Source:MGI Symbol;Acc:MGI:2146110]|Heterozygous||T|A|26|40.0|Non-synonymous|Alive, Line Propagating
6509048|IGL01305|15|93489104|E->G|||MGI:1917029|Pphln1|periphilin 1 [Source:MGI Symbol;Acc:MGI:1917029]|Heterozygous|Mice homozygous for a gene trap allele die prior to E7.5.|A|G|26|39.5|Non-synonymous|Alive, Line Propagating
6509049|IGL01305|10|43604375|S->R||Unknown|MGI:3822538|F930017d23rik|RIKEN cDNA F930017D23 gene [Source:MGI Symbol;Acc:MGI:3822538]|Heterozygous||T|G|24|38.0|Non-synonymous|Alive, Line Propagating
6509050|IGL01305|13|104390082|V->E|1.0|Probably damaging|MGI:1347348|Adamts6|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6 [Source:MGI Symbol;Acc:MGI:1347348]|Heterozygous||T|A|24|37.0|Non-synonymous|Alive, Line Propagating
6509051|IGL01305|16|33456943|V->A|0.01|Benign|MGI:1332234|Zfp148|zinc finger protein 148 [Source:MGI Symbol;Acc:MGI:1332234]|Heterozygous|Disruption of one allele results in haploinsufficient male infertility in which chimeric males display a loss of germ cells.|T|C|24|40.0|Non-synonymous|Alive, Line Propagating
6509052|IGL01305|6|13583046|V->E|0.99|Probably damaging|MGI:1921794|Tmem168|transmembrane protein 168 [Source:MGI Symbol;Acc:MGI:1921794]|Heterozygous||A|T|24|39.0|Non-synonymous|Alive, Line Propagating
6509053|IGL01305|18|22516446|H->Q||Benign|MGI:2685175|Asxl3|additional sex combs like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685175]|Heterozygous||T|A|23|41.0|Non-synonymous|Alive, Line Propagating
6509054|IGL01305|11|72764791|E->K|0.95|Possibly damaging|MGI:1337008|Ankfy1|ankyrin repeat and FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:1337008]|Heterozygous||G|A|20|40.5|Non-synonymous|Alive, Line Propagating
6509055|IGL01305|17|12967895|T->K|0.01|Benign|MGI:1926395|Wtap|Wilms' tumour 1-associating protein [Source:MGI Symbol;Acc:MGI:1926395]|Heterozygous|Mice homozygous for a mutation display lethality during embryogenesis with abnormalities appearing during gastrulation.|G|T|19|39.0|Non-synonymous|Alive, Line Propagating
6509056|IGL01305|6|132855443|N->K|0.01|Benign|MGI:1890258|Tas2r116|taste receptor, type 2, member 116 [Source:MGI Symbol;Acc:MGI:1890258]|Heterozygous||T|A|16|35.5|Non-synonymous|Alive, Line Propagating
6509057|IGL01305|7|100851698|L->Q|1.0|Probably damaging|MGI:2443373|Relt|RELT tumor necrosis factor receptor [Source:MGI Symbol;Acc:MGI:2443373]|Heterozygous||A|T|15|37.0|Non-synonymous|Alive, Line Propagating
6509058|IGL01305|5|146834186|Disrupted splicing|||MGI:1278340|Rpl21|ribosomal protein L21 [Source:MGI Symbol;Acc:MGI:1278340]|Heterozygous||A|G|144|39.0|Splice|Alive, Line Propagating
6509059|IGL01305|9|104230637|Disrupted splicing|||MGI:2676368|Dnajc13|DnaJ (Hsp40) homolog, subfamily C, member 13 [Source:MGI Symbol;Acc:MGI:2676368]|Heterozygous||T|C|115|39.0|Splice|Alive, Line Propagating
6509060|IGL01305|1|134182816|Disrupted splicing|||MGI:1340899|Chi3l1|chitinase 3-like 1 [Source:MGI Symbol;Acc:MGI:1340899]|Heterozygous|Homozygous null mice show impaired OVA-induced Th2 responses with reduced splenocyte proliferation, cytokine production and IgE levels, impaired dendritic cell recruitment, higher CD4 T cell, macrophage and eosinophil apoptosis, and reduced CD4 T cell and alternatively activated macrophage numbers.|A|G|71|35.0|Splice|Alive, Line Propagating
6509061|IGL01305|4|63300741|Disrupted splicing|||MGI:2672118|Col27a1|collagen, type XXVII, alpha 1 [Source:MGI Symbol;Acc:MGI:2672118]|Heterozygous||A|G|60|35.0|Splice|Alive, Line Propagating
6509062|IGL01305|18|37991327|Disrupted splicing|||MGI:2147274|Arap3|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Source:MGI Symbol;Acc:MGI:2147274]|Heterozygous||C|T|54|39.0|Splice|Alive, Line Propagating
6509063|IGL01305|17|46668091|Disrupted splicing|||MGI:2385053|Rrp36|ribosomal RNA processing 36 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2385053]|Heterozygous||A|T|46|37.0|Splice|Alive, Line Propagating
6509670|IGL01306|6|141946587|K->Stop||N/A|MGI:1351891|Slco1a1|solute carrier organic anion transporter family, member 1a1 [Source:MGI Symbol;Acc:MGI:1351891]|Heterozygous||T|A|152|41.0|Non-synonymous|Alive
6509671|IGL01306|10|4353273|A->S|0.89|Possibly damaging|MGI:1932576|Akap12|A kinase (PRKA) anchor protein (gravin) 12 [Source:MGI Symbol;Acc:MGI:1932576]|Heterozygous|Mice homozygous for a gene trap allele that disrupts the widely expressed isoform, but not the testis-specific isoform exhibit no obvious mutant phenotype.|G|T|138|39.0|Non-synonymous|Alive
6509672|IGL01306|14|50126582|N->D||Benign|MGI:3030561|Olfr727|olfactory receptor 727 [Source:MGI Symbol;Acc:MGI:3030561]|Heterozygous||A|G|107|40.0|Non-synonymous|Alive
6509673|IGL01306|17|22568984|E->V|||MGI:3647034|Vmn2r111|vomeronasal 2, receptor 111 [Source:MGI Symbol;Acc:MGI:3647034]|Heterozygous||T|A|99|40.0|Non-synonymous|Alive
6509674|IGL01306|1|107154665|Y->H|1.0|Probably damaging|MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||A|G|87|39.0|Non-synonymous|Alive
6509675|IGL01306|15|20665965|F->S|0.72|Possibly damaging|MGI:1928940|Acot10|acyl-CoA thioesterase 10 [Source:MGI Symbol;Acc:MGI:1928940]|Heterozygous||A|G|84|39.0|Non-synonymous|Alive
6509676|IGL01306|15|83313509|Y->H|0.87|Possibly damaging|MGI:1913501|Arfgap3|ADP-ribosylation factor GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:1913501]|Heterozygous||A|G|82|36.0|Non-synonymous|Alive
6509677|IGL01306|7|103584693|Y->H|1.0|Probably damaging|MGI:3030451|Olfr617|olfactory receptor 617 [Source:MGI Symbol;Acc:MGI:3030451]|Heterozygous||T|C|80|40.0|Non-synonymous|Alive
6509678|IGL01306|13|9575143|N->D|0.03|Benign|MGI:1920179|Dip2c|DIP2 disco-interacting protein 2 homolog C (Drosophila) [Source:MGI Symbol;Acc:MGI:1920179]|Heterozygous||A|G|78|40.0|Non-synonymous|Alive
6509679|IGL01306|16|88829367|F->L||Unknown|MGI:1347350, MGI:1922601|4930553j12rik,krtap15|RIKEN cDNA 4930553J12 gene [Source:MGI Symbol;Acc:MGI:1922601]|Heterozygous||T|A|75|37.0|Non-synonymous|Alive
6509680|IGL01306|12|70169048|G->S|||MGI:2685650|Abhd12b|abhydrolase domain containing 12B [Source:MGI Symbol;Acc:MGI:2685650]|Heterozygous||G|A|68|40.0|Non-synonymous|Alive
6509681|IGL01306|1|91448833|H->R|0.8|Possibly damaging|MGI:1195265|Per2|period homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1195265]|Heterozygous|Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness. Mutants are also deficient in DNA damage responses and show increased sensitivity to gamma radiation and tumor development.|T|C|66|39.0|Non-synonymous|Alive
6509682|IGL01306|1|165183995|A->E|0.81|Possibly damaging|MGI:1917362|Sft2d2|SFT2 domain containing 2 [Source:MGI Symbol;Acc:MGI:1917362]|Heterozygous||G|T|62|39.0|Non-synonymous|Alive
6509683|IGL01306|9|121827363|M->K|0.03|Benign|MGI:1920144|Ccdc13|coiled-coil domain containing 13 [Source:MGI Symbol;Acc:MGI:1920144]|Heterozygous||A|T|62|37.0|Non-synonymous|Alive
6509684|IGL01306|10|31249436|I->F|||MGI:3643411|Gm5422|predicted pseudogene 5422 [Source:MGI Symbol;Acc:MGI:3643411]|Heterozygous||A|T|55|39.0|Non-synonymous|Alive
6509685|IGL01306|5|118113720|V->M|0.44|Possibly damaging|MGI:1923041|Fbxw8|F-box and WD-40 domain protein 8 [Source:MGI Symbol;Acc:MGI:1923041]|Heterozygous|Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology.|C|T|54|36.5|Non-synonymous|Alive
6509686|IGL01306|14|55515249|I->F|0.98|Probably damaging|MGI:1334445|Cpne6|copine VI [Source:MGI Symbol;Acc:MGI:1334445]|Heterozygous||A|T|53|37.0|Non-synonymous|Alive
6509687|IGL01306|10|56180524|T->I|0.35|Benign|MGI:2442827|D630037f22rik|RIKEN cDNA D630037F22 gene [Source:MGI Symbol;Acc:MGI:2442827]|Heterozygous|Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.|G|A|52|40.0|Non-synonymous|Alive
6509688|IGL01306|9|111252912|N->D|0.53|Possibly damaging|MGI:101938|Mlh1|mutL homolog 1 (E. coli) [Source:MGI Symbol;Acc:MGI:101938]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors.|T|C|51|40.0|Non-synonymous|Alive
6509689|IGL01306|11|55310872|N->D||Benign|MGI:2685369|Fat2|FAT tumor suppressor homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685369]|Heterozygous||T|C|49|38.0|Non-synonymous|Alive
6509690|IGL01306|11|106813815|V->I||Benign|MGI:2443502|Ccdc45|coiled-coil domain containing 45 [Source:MGI Symbol;Acc:MGI:2443502]|Heterozygous||G|A|48|40.0|Non-synonymous|Alive
6509691|IGL01306|16|15667731|V->A|0.32|Benign|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|C|42|40.0|Non-synonymous|Alive
6509692|IGL01306|6|22297935|R->C|1.0|Probably damaging|MGI:2136018|Wnt16|wingless-related MMTV integration site 16 [Source:MGI Symbol;Acc:MGI:2136018]|Heterozygous||C|T|41|40.0|Non-synonymous|Alive
6509693|IGL01306|12|102606103|E->G|1.0|Probably damaging|MGI:2446159|Itpk1|inositol 1,3,4-triphosphate 5/6 kinase [Source:MGI Symbol;Acc:MGI:2446159]|Heterozygous|Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation.|T|C|39|39.0|Non-synonymous|Alive
6509694|IGL01306|10|58628638|C->S|0.96|Probably damaging|MGI:1343498|Edar|ectodysplasin-A receptor [Source:MGI Symbol;Acc:MGI:1343498]|Heterozygous|Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands.|A|T|38|39.0|Non-synonymous|Alive
6509695|IGL01306|17|37196942|N->S||Benign|MGI:2177477|Olfr94|olfactory receptor 94 [Source:MGI Symbol;Acc:MGI:2177477]|Heterozygous||T|C|38|39.0|Non-synonymous|Alive
6509696|IGL01306|3|146487399|Y->Stop||N/A|MGI:1918201|Spata1|spermatogenesis associated 1 [Source:MGI Symbol;Acc:MGI:1918201]|Heterozygous||A|T|38|41.0|Non-synonymous|Alive
6509697|IGL01306|10|77991395|T->S||Benign|MGI:97547|Pfkl|phosphofructokinase, liver, B-type [Source:MGI Symbol;Acc:MGI:97547]|Heterozygous||T|A|36|35.0|Non-synonymous|Alive
6509698|IGL01306|1|136297790|E->D|||MGI:1922434|Camsap2|calmodulin regulated spectrin-associated protein family, member 2 [Source:MGI Symbol;Acc:MGI:1922434]|Heterozygous||T|A|31|39.0|Non-synonymous|Alive
6509699|IGL01306|9|62797528|A->V|0.24|Benign|MGI:1335087|Fem1b|feminization 1 homolog b (C. elegans) [Source:MGI Symbol;Acc:MGI:1335087]|Heterozygous|Homozygous targeted mutants display abnormal glucose tolerance due to defective glucose-stimulated insulin secretion.|G|A|31|39.0|Non-synonymous|Alive
6509700|IGL01306|7|43351953|L->Stop||N/A|MGI:2681107|Siglec5|sialic acid binding Ig-like lectin 5 [Source:MGI Symbol;Acc:MGI:2681107]|Heterozygous||T|A|29|40.0|Non-synonymous|Alive
6509701|IGL01306|11|115256194|T->A||Benign|MGI:95822|Grin2c|glutamate receptor, ionotropic, NMDA2C (epsilon 3) [Source:MGI Symbol;Acc:MGI:95822]|Heterozygous|Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices.|T|C|27|37.0|Non-synonymous|Alive
6509702|IGL01306|10|80609422|Q->K|0.88|Possibly damaging|MGI:1928947|Scamp4|secretory carrier membrane protein 4 [Source:MGI Symbol;Acc:MGI:1928947]|Heterozygous||C|A|26|39.0|Non-synonymous|Alive
6509703|IGL01306|17|27986253|T->K|1.0|Probably damaging|MGI:2446180|Anks1|ankyrin repeat and SAM domain containing 1 [Source:MGI Symbol;Acc:MGI:2446180]|Heterozygous||C|A|26|37.0|Non-synonymous|Alive
6509704|IGL01306|11|3998405|Y->C|1.0|Probably damaging|MGI:1858277|Gal3st1|galactose-3-O-sulfotransferase 1 [Source:MGI Symbol;Acc:MGI:1858277]|Heterozygous|Homozygotes for a targeted null mutation exhibit hindlimb weakness and progressive ataxia beginning at six weeks of age. Homozygous males exhibit sterility with a block in spermatogenesis prior to the first meiotic division.|A|G|24|35.0|Non-synonymous|Alive
6509705|IGL01306|2|166927508|Y->Stop||N/A|MGI:1339951|Cse1l|chromosome segregation 1-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1339951]|Heterozygous|Embryos homozygous for a targeted null mutation die prior to E5.5 of development and are morphologically disorganized and lack identifiable structures.|T|A|24|39.5|Non-synonymous|Alive
6509707|IGL01306|4|63165884|P->Q|0.89|Possibly damaging|MGI:1098232|Kif12|kinesin family member 12 [Source:MGI Symbol;Acc:MGI:1098232]|Heterozygous||G|T|16|41.0|Non-synonymous|Alive
6509708|IGL01306|7|117548890|S->R|||MGI:2451073|Xylt1|xylosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2451073]|Heterozygous||A|C|11|39.0|Non-synonymous|Alive
6509709|IGL01306|4|126515884|Disrupted splicing|||MGI:1924100|Eif2c4|eukaryotic translation initiation factor 2C, 4 [Source:MGI Symbol;Acc:MGI:1924100]|Heterozygous||T|C|114|39.0|Splice|Alive
6509710|IGL01306|3|37005013|Disrupted splicing|||MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||T|C|27|39.0|Splice|Alive
6509711|IGL01306|10|93569935|Disrupted splicing|||MGI:2444738|Ccdc38|coiled-coil domain containing 38 [Source:MGI Symbol;Acc:MGI:2444738]|Heterozygous||T|C|26|39.5|Splice|Alive
6510326|IGL01307|4|123383129|V->E|||MGI:108559|Macf1|microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]|Heterozygous|Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.|A|T|109|39.0|Non-synonymous|Alive, Line Propagating
6510327|IGL01307|9|35457564|K->E|0.09|Benign|MGI:1926387|Cdon|cell adhesion molecule-related/down-regulated by oncogenes [Source:MGI Symbol;Acc:MGI:1926387]|Heterozygous|Homozygous null mice display facial defects characteristic of microform holoprosencephaly, are runted, and are prone to death prior to weaning.|A|G|96|39.0|Non-synonymous|Alive, Line Propagating
6510328|IGL01307|9|67395467|M->T|0.91|Possibly damaging|MGI:1917799|Tln2|talin 2 [Source:MGI Symbol;Acc:MGI:1917799]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.|A|G|93|39.0|Non-synonymous|Alive, Line Propagating
6510329|IGL01307|4|42850963|L->I|0.35|Benign|MGI:3651059|Gm12429|predicted gene 12429 [Source:MGI Symbol;Acc:MGI:3651059]|Heterozygous||G|T|88|39.0|Non-synonymous|Alive, Line Propagating
6510330|IGL01307|5|105137021|M->V|||MGI:97072|Gbp4|guanylate binding protein 4 [Source:MGI Symbol;Acc:MGI:97072]|Heterozygous||T|C|85|40.0|Non-synonymous|Alive, Line Propagating
6510331|IGL01307|1|14896547|M->K|0.75|Possibly damaging|MGI:3522699|Trpa1|transient receptor potential cation channel, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:3522699]|Heterozygous||A|T|79|39.0|Non-synonymous|Alive, Line Propagating
6510332|IGL01307|11|11839462|D->V|1.0|Probably damaging|MGI:94876|Ddc|dopa decarboxylase [Source:MGI Symbol;Acc:MGI:94876]|Heterozygous|Mice homozygous for disruptions in this gene have a lethal phenotype.|T|A|61|37.0|Non-synonymous|Alive, Line Propagating
6510333|IGL01307|16|20604270|D->G||Benign|MGI:2681859|Vwa5b2|von Willebrand factor A domain containing 5B2 [Source:MGI Symbol;Acc:MGI:2681859]|Heterozygous||A|G|55|39.0|Non-synonymous|Alive, Line Propagating
6510334|IGL01307|6|125168619|V->A|0.84|Possibly damaging|MGI:1915548|Ncapd2|non-SMC condensin I complex, subunit D2 [Source:MGI Symbol;Acc:MGI:1915548]|Heterozygous||A|G|48|37.0|Non-synonymous|Alive, Line Propagating
6510335|IGL01307|8|109575783|V->I|0.03|Benign|MGI:96211|Hp|haptoglobin [Source:MGI Symbol;Acc:MGI:96211]|Heterozygous||C|T|48|35.0|Non-synonymous|Alive, Line Propagating
6510336|IGL01307|19|46314658|G->R|1.0|Probably damaging|MGI:1920978|Psd|pleckstrin and Sec7 domain containing [Source:MGI Symbol;Acc:MGI:1920978]|Heterozygous||C|T|46|38.0|Non-synonymous|Alive, Line Propagating
6510337|IGL01307|11|9297159|M->K|0.5|Possibly damaging|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||T|A|43|39.0|Non-synonymous|Alive, Line Propagating
6510338|IGL01307|5|108106890|T->M|1.0|Probably damaging|MGI:105050|Mtf2|metal response element binding transcription factor 2 [Source:MGI Symbol;Acc:MGI:105050]|Heterozygous|Mice homozygous for a knock-out allele exhibit vertebral transformation and delayed replicative senescence in MEFs. Mice homozygous for one gene trap allele exhibit postnatal lethality, vertebral transformation and delayed replicative senescence in MEFs.|C|T|43|34.0|Non-synonymous|Alive, Line Propagating
6510339|IGL01307|1|150745001|T->A|0.5|Possibly damaging|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||T|C|40|39.0|Non-synonymous|Alive, Line Propagating
6510340|IGL01307|19|39992579|V->A||Benign|MGI:1306806|Cyp2c37|cytochrome P450, family 2. subfamily c, polypeptide 37 [Source:MGI Symbol;Acc:MGI:1306806]|Heterozygous||T|C|40|38.5|Non-synonymous|Alive, Line Propagating
6510341|IGL01307|3|129739993|I->S|1.0|Probably damaging|MGI:95290|Egf|epidermal growth factor [Source:MGI Symbol;Acc:MGI:95290]|Heterozygous|Null mutants have normal phenotype. Females triply null, for this locus and the amphiregulin and transforming growth factor alpha genes, are unable to nurse due to impaired mammary gland development and show mild integument and digestive system anomalies.|A|C|40|39.0|Non-synonymous|Alive, Line Propagating
6510342|IGL01307|6|73065725|A->V|1.0|Probably damaging|MGI:107744|Dnahc6|dynein, axonemal, heavy chain 6 [Source:MGI Symbol;Acc:MGI:107744]|Heterozygous||G|A|40|35.5|Non-synonymous|Alive, Line Propagating
6510343|IGL01307|5|96781692|T->K||Benign|MGI:2385368|Fras1|Fraser syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2385368]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.|C|A|39|39.0|Non-synonymous|Alive, Line Propagating
6510344|IGL01307|15|5100002|M->I|0.57|Possibly damaging|MGI:3032959|Card6|caspase recruitment domain family, member 6 [Source:MGI Symbol;Acc:MGI:3032959]|Heterozygous||C|A|37|40.0|Non-synonymous|Alive, Line Propagating
6510345|IGL01307|15|11237546|I->L|1.0|Probably damaging|MGI:2146046|Adamts12|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12 [Source:MGI Symbol;Acc:MGI:2146046]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis.|A|T|37|41.0|Non-synonymous|Alive, Line Propagating
6510346|IGL01307|5|63808283|S->C|0.88|Possibly damaging|MGI:1920464|3110047p20rik|RIKEN cDNA 3110047P20 gene [Source:MGI Symbol;Acc:MGI:1920464]|Heterozygous||A|T|37|40.0|Non-synonymous|Alive, Line Propagating
6510347|IGL01307|15|18899800|D->G|0.26|Benign|MGI:107436|Cdh10|cadherin 10 [Source:MGI Symbol;Acc:MGI:107436]|Heterozygous||A|G|36|41.0|Non-synonymous|Alive, Line Propagating
6510348|IGL01307|2|125080880|G->S|1.0|Probably damaging|MGI:2677271|Slc24a5|solute carrier family 24, member 5 [Source:MGI Symbol;Acc:MGI:2677271]|Heterozygous||G|A|36|41.0|Non-synonymous|Alive, Line Propagating
6510349|IGL01307|1|59287796|Y->F|0.99|Probably damaging|MGI:3583944|Cdk15|cyclin-dependent kinase 15 [Source:MGI Symbol;Acc:MGI:3583944]|Heterozygous||A|T|34|38.5|Non-synonymous|Alive, Line Propagating
6510350|IGL01307|15|44530029|I->T|0.18|Benign|MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||T|C|34|40.0|Non-synonymous|Alive, Line Propagating
6510351|IGL01307|6|37965635|D->E|0.87|Possibly damaging|MGI:109275|Trim24|tripartite motif-containing 24 [Source:MGI Symbol;Acc:MGI:109275]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased hepatocyte ploidy and uncontrolled hepatocellular proliferation; most adult mice develop malignant hepatocellular carcinomas.|C|A|34|38.0|Non-synonymous|Alive, Line Propagating
6510353|IGL01307|11|74289428|C->S|0.88|Possibly damaging|MGI:1333755|Olfr59|olfactory receptor 59 [Source:MGI Symbol;Acc:MGI:1333755]|Heterozygous||T|A|30|40.0|Non-synonymous|Alive, Line Propagating
6510354|IGL01307|1|191570699|S->T|0.68|Possibly damaging|MGI:1924093|Dtl|denticleless homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1924093]|Heterozygous|Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation.|A|T|29|39.0|Non-synonymous|Alive, Line Propagating
6510355|IGL01307|6|49045365|D->G|0.04|Benign|MGI:1934765|Gpnmb|glycoprotein (transmembrane) nmb [Source:MGI Symbol;Acc:MGI:1934765]|Heterozygous|Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.|A|G|29|37.0|Non-synonymous|Alive, Line Propagating
6510356|IGL01307|2|156095382|V->G|0.5|Possibly damaging|MGI:1922960|Rbm12|RNA binding motif protein 12 [Source:MGI Symbol;Acc:MGI:1922960]|Heterozygous||A|C|27|39.0|Non-synonymous|Alive, Line Propagating
6510357|IGL01307|11|23417676|V->E|0.96|Probably damaging|MGI:109473|Usp34|ubiquitin specific peptidase 34 [Source:MGI Symbol;Acc:MGI:109473]|Heterozygous||T|A|26|39.0|Non-synonymous|Alive, Line Propagating
6510358|IGL01307|17|34199236|T->A||Benign|MGI:1346527|Psmb8|proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) [Source:MGI Symbol;Acc:MGI:1346527]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens.|A|G|23|38.0|Non-synonymous|Alive, Line Propagating
6510359|IGL01307|10|76411588|Y->H|||MGI:102722|Pcnt|pericentrin (kendrin) [Source:MGI Symbol;Acc:MGI:102722]|Heterozygous|Mice homozygous for ENU mutations exhibit perinatal lethality, polydactyly, and abnormal interneuron migration. Heterozygotes exhibit sporadic seizures.|A|G|22|37.5|Non-synonymous|Alive, Line Propagating
6510360|IGL01307|11|119293561|K->E|0.99|Probably damaging|MGI:1923731|Eif4a3|eukaryotic translation initiation factor 4A3 [Source:MGI Symbol;Acc:MGI:1923731]|Heterozygous||T|C|22|38.0|Non-synonymous|Alive, Line Propagating
6510361|IGL01307|2|22558289|N->K|||MGI:2183924|Myo3a|myosin IIIA [Source:MGI Symbol;Acc:MGI:2183924]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration.|T|A|21|40.0|Non-synonymous|Alive, Line Propagating
6510362|IGL01307|7|88075012|T->S|1.0|Probably damaging|MGI:1351342|Grm5|glutamate receptor, metabotropic 5 [Source:MGI Symbol;Acc:MGI:1351342]|Heterozygous|Homozygous null mice have reduced corticostriatal long term potentiation, do not exhibit hyperactivity after cocaine consumption and do not self-administer cocaine.|A|T|20|39.0|Non-synonymous|Alive, Line Propagating
6510363|IGL01307|8|84029445|S->P|0.28|Benign|MGI:1921587|Palm3|paralemmin 3 [Source:MGI Symbol;Acc:MGI:1921587]|Heterozygous||T|C|20|40.0|Non-synonymous|Alive, Line Propagating
6510364|IGL01307|2|76906293|Y->H||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|17|40.0|Non-synonymous|Alive, Line Propagating
6510365|IGL01307|15|6844427|V->A|||MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|A|G|15|40.0|Non-synonymous|Alive, Line Propagating
6510366|IGL01307|17|33434178|E->G|0.99|Probably damaging|MGI:1916731|Actl9|actin-like 9 [Source:MGI Symbol;Acc:MGI:1916731]|Heterozygous||A|G|14|38.0|Non-synonymous|Alive, Line Propagating
6510367|IGL01307|19|56551799|Y->Stop||N/A|MGI:1914116|Nhlrc2|NHL repeat containing 2 [Source:MGI Symbol;Acc:MGI:1914116]|Heterozygous||C|A|14|38.5|Non-synonymous|Alive, Line Propagating
6510368|IGL01307|17|78381600|Disrupted splicing|||MGI:2675856|Fez2|fasciculation and elongation protein zeta 2 (zygin II) [Source:MGI Symbol;Acc:MGI:2675856]|Heterozygous||C|T|98|39.0|Splice|Alive, Line Propagating
6510369|IGL01307|17|25819364|Disrupted splicing|||MGI:2448488|Fbxl16|F-box and leucine-rich repeat protein 16 [Source:MGI Symbol;Acc:MGI:2448488]|Heterozygous||A|T|64|37.0|Splice|Alive, Line Propagating
6510370|IGL01307|15|6774604|Disrupted splicing|||MGI:1926007|Rictor|RPTOR independent companion of MTOR, complex 2 [Source:MGI Symbol;Acc:MGI:1926007]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal placental morphology.|T|A|45|40.0|Splice|Alive, Line Propagating
6510371|IGL01307|17|65948651|Disrupted splicing|||MGI:2137520|Twsg1|twisted gastrulation homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2137520]|Heterozygous|Homozygous null mice appear healthy at birth, but more than half of the progeny fail to thrive and exhibit dwarfism with delayed ossification and immune system. These defects result in premature death.|T|C|30|40.0|Splice|Alive, Line Propagating
6510372|IGL01307|9|100951788|Disrupted splicing|||MGI:1098658|Stag1|stromal antigen 1 [Source:MGI Symbol;Acc:MGI:1098658]|Heterozygous||A|G|21|38.0|Splice|Alive, Line Propagating
6510373|IGL01307|7|116145244|Disrupted splicing|||MGI:2445094|Plekha7|pleckstrin homology domain containing, family A member 7 [Source:MGI Symbol;Acc:MGI:2445094]|Heterozygous||A|G|17|39.0|Splice|Alive, Line Propagating
6510374|IGL01307|14|77092076|Disrupted splicing|||MGI:1918358|Ccdc122|coiled-coil domain containing 122 [Source:MGI Symbol;Acc:MGI:1918358]|Heterozygous||G|A|13|39.0|Splice|Alive, Line Propagating
6510979|IGL01308|11|104720697|D->V|||MGI:3651790|Gm11639|predicted gene 11639 [Source:MGI Symbol;Acc:MGI:3651790]|Heterozygous||A|T|246|37.0|Non-synonymous|Alive
6510980|IGL01308|8|21250418|T->I|1.0|Probably damaging|MGI:3708769|Gm15292|predicted gene 15292 [Source:MGI Symbol;Acc:MGI:3708769]|Heterozygous||C|T|195|40.0|Non-synonymous|Alive
6510981|IGL01308|7|45538235|S->G|0.97|Probably damaging|MGI:1916467|Plekha4|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 [Source:MGI Symbol;Acc:MGI:1916467]|Heterozygous||A|G|133|35.0|Non-synonymous|Alive
6510982|IGL01308|10|129238607|T->S||Benign|MGI:3030608|Olfr774|olfactory receptor 774 [Source:MGI Symbol;Acc:MGI:3030608]|Heterozygous||A|T|98|37.0|Non-synonymous|Alive
6510983|IGL01308|8|71685166|D->V|1.0|Probably damaging|MGI:99928|Jak3|Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]|Heterozygous|Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.|A|T|69|37.0|Non-synonymous|Alive
6510984|IGL01308|17|86625462|D->E|0.06|Benign|MGI:97599|Prkce|protein kinase C, epsilon [Source:MGI Symbol;Acc:MGI:97599]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced ethanol self-administration and are more sensitive to the acute behavioral effects of ethanol and other drugs that activate GABA(A) receptors. Mutants show reduced anxiety and stress hormones.|T|A|62|40.0|Non-synonymous|Alive
6510985|IGL01308|7|45021285|Y->C|0.85|Possibly damaging|MGI:98179|Rras|Harvey rat sarcoma oncogene, subgroup R [Source:MGI Symbol;Acc:MGI:98179]|Heterozygous||A|G|53|39.0|Non-synonymous|Alive
6510986|IGL01308|1|193184891|E->G|||MGI:2441706|Traf3ip3|TRAF3 interacting protein 3 [Source:MGI Symbol;Acc:MGI:2441706]|Heterozygous||T|C|46|39.0|Non-synonymous|Alive
6510987|IGL01308|9|21510042|C->Stop||N/A|MGI:106201|Tmed1|transmembrane emp24 domain containing 1 [Source:MGI Symbol;Acc:MGI:106201]|Heterozygous||A|T|42|35.5|Non-synonymous|Alive
6510988|IGL01308|7|105617469|V->E|1.0|Probably damaging|MGI:1860040|Trim3|tripartite motif-containing 3 [Source:MGI Symbol;Acc:MGI:1860040]|Heterozygous|Mice homozygous for a null allele have decreased susceptibility to pharmacologically induced seizure as well as reduced miniature inhibitory synaptic current amplitude in cortical neurons.|A|T|39|40.0|Non-synonymous|Alive
6510989|IGL01308|8|3616332|R->Q|0.66|Possibly damaging|MGI:1914689|Xab2|XPA binding protein 2 [Source:MGI Symbol;Acc:MGI:1914689]|Heterozygous|Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction.|C|T|39|39.0|Non-synonymous|Alive
6510990|IGL01308|13|8203293|R->G|1.0|Probably damaging|MGI:2151118|Adarb2|adenosine deaminase, RNA-specific, B2 [Source:MGI Symbol;Acc:MGI:2151118]|Heterozygous||A|G|38|40.0|Non-synonymous|Alive
6510991|IGL01308|10|128519791|N->Y|0.04|Benign|MGI:1344426|Esyt1|extended synaptotagmin-like protein 1 [Source:MGI Symbol;Acc:MGI:1344426]|Heterozygous||T|A|37|38.0|Non-synonymous|Alive
6510992|IGL01308|7|119834276|W->R|0.99|Probably damaging|MGI:1919402|2610020h08rik|RIKEN cDNA 2610020H08 gene [Source:MGI Symbol;Acc:MGI:1919402]|Heterozygous||T|C|37|38.0|Non-synonymous|Alive
6510993|IGL01308|11|74346660|L->P|0.98|Probably damaging|MGI:3030245|Olfr411|olfactory receptor 411 [Source:MGI Symbol;Acc:MGI:3030245]|Heterozygous||A|G|36|38.0|Non-synonymous|Alive
6510994|IGL01308|4|46377053|G->S||Unknown|MGI:1922003|5830415f09rik|RIKEN cDNA 5830415F09 gene [Source:MGI Symbol;Acc:MGI:1922003]|Heterozygous||C|T|34|40.0|Non-synonymous|Alive
6510995|IGL01308|2|147084340|Y->H|0.99|Probably damaging|MGI:97349|Nkx2-4|NK2 transcription factor related, locus 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:97349]|Heterozygous||A|G|32|36.0|Non-synonymous|Alive
6510996|IGL01308|7|25688017|R->L|1.0|Probably damaging|MGI:98725|Tgfb1|transforming growth factor, beta 1 [Source:MGI Symbol;Acc:MGI:98725]|Heterozygous|Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis.|G|T|32|35.0|Non-synonymous|Alive
6510997|IGL01308|9|106662408|K->E|0.95|Possibly damaging|MGI:1096570|Tex264|testis expressed gene 264 [Source:MGI Symbol;Acc:MGI:1096570]|Heterozygous||T|C|32|37.0|Non-synonymous|Alive
6510998|IGL01308|7|144595498|Q->H|||MGI:2142149|Ano1|anoctamin 1, calcium activated chloride channel [Source:MGI Symbol;Acc:MGI:2142149]|Heterozygous|Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology.|C|A|31|39.0|Non-synonymous|Alive
6510999|IGL01308|19|44523683|F->L|0.04|Benign|MGI:2685187|Sec31b|Sec31 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2685187]|Heterozygous||A|G|30|39.0|Non-synonymous|Alive
6511000|IGL01308|8|40597345|Y->N|1.0|Probably damaging|MGI:1891693|Mtmr7|myotubularin related protein 7 [Source:MGI Symbol;Acc:MGI:1891693]|Heterozygous||A|T|29|37.0|Non-synonymous|Alive
6511001|IGL01308|19|14468261|V->A||Benign|MGI:104633|Tle4|transducin-like enhancer of split 4, homolog of Drosophila E(spl) [Source:MGI Symbol;Acc:MGI:104633]|Heterozygous||A|G|28|39.0|Non-synonymous|Alive
6511002|IGL01308|14|48511958|N->S|1.0|Probably damaging|MGI:2443219|6720456h20rik|RIKEN cDNA 6720456H20 gene [Source:MGI Symbol;Acc:MGI:2443219]|Heterozygous||A|G|27|38.0|Non-synonymous|Alive
6511003|IGL01308|11|22138022|P->L||Benign|MGI:2667252|Ehbp1|EH domain binding protein 1 [Source:MGI Symbol;Acc:MGI:2667252]|Heterozygous||G|A|26|40.0|Non-synonymous|Alive
6511004|IGL01308|7|79099249|D->G|0.92|Possibly damaging|MGI:99602|Acan|aggrecan [Source:MGI Symbol;Acc:MGI:99602]|Heterozygous|Mutations in this gene result in dwarfism, skeletal abnormalities, and cranial facial defects. Neonatal death is due to pulmonary hypoplasia.|A|G|26|39.0|Non-synonymous|Alive
6511005|IGL01308|17|34840634|L->P|1.0|Probably damaging|MGI:1099835|Skiv2l|superkiller viralicidic activity 2-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1099835]|Heterozygous||A|G|25|38.0|Non-synonymous|Alive
6511006|IGL01308|5|108336477|L->P|1.0|Probably damaging|MGI:3576484|Pigg|phosphatidylinositol glycan anchor biosynthesis, class G [Source:MGI Symbol;Acc:MGI:3576484]|Heterozygous||T|C|25|39.0|Non-synonymous|Alive
6511007|IGL01308|2|168750244|I->V|0.98|Probably damaging|MGI:2139360|Sall4|sal-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:2139360]|Heterozygous|Homozygous mutation of this gene results in early embryonic lethality before somite formation. Heterozygous mutation of this locus causes variable phenotypes, from heart and digit defects to deafness, anogenital tract defects, cranial and carpal bone defects and renal agenesis or hypoplasia.|T|C|23|40.0|Non-synonymous|Alive
6511009|IGL01308|4|149657460|V->A|1.0|Probably damaging|MGI:1098211|Pik3cd|phosphatidylinositol 3-kinase catalytic delta polypeptide [Source:MGI Symbol;Acc:MGI:1098211]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease.|A|G|22|37.0|Non-synonymous|Alive
6511010|IGL01308|7|108544726|L->Stop||N/A|MGI:3030337|Olfr503|olfactory receptor 503 [Source:MGI Symbol;Acc:MGI:3030337]|Heterozygous||T|A|22|39.0|Non-synonymous|Alive
6511011|IGL01308|4|152260896|M->L|0.02|Benign|MGI:1917275|Acot7|acyl-CoA thioesterase 7 [Source:MGI Symbol;Acc:MGI:1917275]|Heterozygous||A|T|21|40.0|Non-synonymous|Alive
6511012|IGL01308|2|25250139|Y->H||Benign|MGI:1926047|Ndor1|NADPH dependent diflavin oxidoreductase 1 [Source:MGI Symbol;Acc:MGI:1926047]|Heterozygous||A|G|19|34.0|Non-synonymous|Alive
6511013|IGL01308|12|11256870|T->A|1.0|Probably damaging|MGI:2443149|Gen1|Gen homolog 1, endonuclease (Drosophila) [Source:MGI Symbol;Acc:MGI:2443149]|Heterozygous||T|C|16|38.5|Non-synonymous|Alive
6511014|IGL01308|2|165406780|I->N|0.93|Possibly damaging|MGI:2149635|Slc13a3|solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 [Source:MGI Symbol;Acc:MGI:2149635]|Heterozygous||A|T|16|39.0|Non-synonymous|Alive
6511015|IGL01308|12|98802313|H->R|1.0|Probably damaging|MGI:2442513|Eml5|echinoderm microtubule associated protein like 5 [Source:MGI Symbol;Acc:MGI:2442513]|Heterozygous||T|C|14|36.0|Non-synonymous|Alive
6511016|IGL01308|4|107864076|I->M||Benign|MGI:1340044|Lrp8|low density lipoprotein receptor-related protein 8, apolipoprotein e receptor [Source:MGI Symbol;Acc:MGI:1340044]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile.|A|G|13|35.0|Non-synonymous|Alive
6511017|IGL01308|7|128714485|Q->Stop||N/A|MGI:1920977|Mcmbp|MCM (minichromosome maintenance deficient) binding protein [Source:MGI Symbol;Acc:MGI:1920977]|Heterozygous||G|A|12|38.0|Non-synonymous|Alive
6511018|IGL01308|6|128618045|Disrupted splicing|||MGI:107540|Klrb1a|killer cell lectin-like receptor subfamily B member 1A [Source:MGI Symbol;Acc:MGI:107540]|Heterozygous||A|G|84|40.0|Splice|Alive
6511019|IGL01308|14|62365257|Disrupted splicing|||MGI:1914403|Rnaseh2b|ribonuclease H2, subunit B [Source:MGI Symbol;Acc:MGI:1914403]|Heterozygous||A|G|81|40.0|Splice|Alive
6511020|IGL01308|11|32208745|Disrupted splicing|||MGI:1925622|Snrnp25|small nuclear ribonucleoprotein 25 (U11/U12) [Source:MGI Symbol;Acc:MGI:1925622]|Heterozygous||A|G|33|34.0|Splice|Alive
6511021|IGL01308|15|95913661|Disrupted splicing|||MGI:2145890|Ano6|anoctamin 6 [Source:MGI Symbol;Acc:MGI:2145890]|Heterozygous||G|A|33|39.0|Splice|Alive
6511022|IGL01308|13|92022917|Disrupted splicing|||MGI:109137|Rasgrf2|RAS protein-specific guanine nucleotide-releasing factor 2 [Source:MGI Symbol;Acc:MGI:109137]|Heterozygous|Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice.|A|G|25|39.0|Splice|Alive
6511023|IGL01308|9|121443736|Disrupted splicing|||MGI:1914345|Trak1|trafficking protein, kinesin binding 1 [Source:MGI Symbol;Acc:MGI:1914345]|Heterozygous|Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord.|T|C|11|31.0|Splice|Alive
6511653|IGL01309|7|23952999|F->L|1.0|Probably damaging|MGI:3033485|Vmn1r180|vomeronasal 1 receptor 180 [Source:MGI Symbol;Acc:MGI:3033485]|Heterozygous||T|C|214|39.0|Non-synonymous|Alive, Line Propagating
6511654|IGL01309|1|92620335|M->T|1.0|Probably damaging|MGI:107863|Olfr12|olfactory receptor 12 [Source:MGI Symbol;Acc:MGI:107863]|Heterozygous||T|C|177|39.0|Non-synonymous|Alive, Line Propagating
6511655|IGL01309|7|18614540|D->A|1.0|Probably damaging|MGI:1891355|Psg23|pregnancy-specific glycoprotein 23 [Source:MGI Symbol;Acc:MGI:1891355]|Heterozygous|Mice homozygous for this spontaneous mutation display no phenotypic abnormalities.|T|G|165|38.0|Non-synonymous|Alive, Line Propagating
6511656|IGL01309|5|124381706|S->T|0.02|Benign|MGI:2384298|Sbno1|sno, strawberry notch homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2384298]|Heterozygous||A|T|155|38.0|Non-synonymous|Alive, Line Propagating
6511657|IGL01309|1|160700798|V->L||Benign|MGI:1352507|Rabgap1l|RAB GTPase activating protein 1-like [Source:MGI Symbol;Acc:MGI:1352507]|Heterozygous|Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types.|C|A|117|40.0|Non-synonymous|Alive, Line Propagating
6511658|IGL01309|1|107604718|T->M|1.0|Probably damaging|MGI:894657|Serpinb8|serine (or cysteine) peptidase inhibitor, clade B, member 8 [Source:MGI Symbol;Acc:MGI:894657]|Heterozygous||C|T|115|40.0|Non-synonymous|Alive, Line Propagating
6511659|IGL01309|16|94832455|Y->H|0.95|Possibly damaging|MGI:104781|Kcnj6|potassium inwardly-rectifying channel, subfamily J, member 6 [Source:MGI Symbol;Acc:MGI:104781]|Heterozygous|A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures.|A|G|95|35.0|Non-synonymous|Alive, Line Propagating
6511660|IGL01309|2|61806067|N->K|0.79|Possibly damaging|MGI:107404|Tbr1|T-box brain gene 1 [Source:MGI Symbol;Acc:MGI:107404]|Heterozygous|Mice homozygous for a targeted null allele fail to feed and die on the second postnatal day displaying disrupted forebrain morphology and a hypoplastic olfactory bulb that lacks normal mitral and tufted cells and shows a striking reduction in mature olfactory bulb projection neurons.|T|G|94|38.0|Non-synonymous|Alive, Line Propagating
6511661|IGL01309|18|37436154|D->Y|1.0|Probably damaging|MGI:2136747|Pcdhb12|protocadherin beta 12 [Source:MGI Symbol;Acc:MGI:2136747]|Heterozygous||G|T|87|40.0|Non-synonymous|Alive, Line Propagating
6511662|IGL01309|5|113759250|F->S|1.0|Probably damaging|MGI:1858230|Sart3|squamous cell carcinoma antigen recognized by T cells 3 [Source:MGI Symbol;Acc:MGI:1858230]|Heterozygous|Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment.|A|G|82|39.0|Non-synonymous|Alive, Line Propagating
6511663|IGL01309|1|155226384|N->D|0.98|Probably damaging|MGI:2672904|Bc034090|cDNA sequence BC034090 [Source:MGI Symbol;Acc:MGI:2672904]|Heterozygous||T|C|77|39.0|Non-synonymous|Alive, Line Propagating
6511664|IGL01309|2|76938747|E->G||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|77|37.0|Non-synonymous|Alive, Line Propagating
6511665|IGL01309|18|6937192|D->G|0.03|Benign|MGI:2687286|Mkx|mohawk homeobox [Source:MGI Symbol;Acc:MGI:2687286]|Heterozygous||T|C|75|39.0|Non-synonymous|Alive, Line Propagating
6511666|IGL01309|14|54509877|Y->C|0.93|Possibly damaging|MGI:1351645|Prmt5|protein arginine N-methyltransferase 5 [Source:MGI Symbol;Acc:MGI:1351645]|Heterozygous|Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation.|T|C|71|38.0|Non-synonymous|Alive, Line Propagating
6511667|IGL01309|17|22569016|I->M|||MGI:3647034|Vmn2r111|vomeronasal 2, receptor 111 [Source:MGI Symbol;Acc:MGI:3647034]|Heterozygous||T|C|71|40.0|Non-synonymous|Alive, Line Propagating
6511668|IGL01309|9|64681416|S->R|0.01|Benign|MGI:1920951|Megf11|multiple EGF-like-domains 11 [Source:MGI Symbol;Acc:MGI:1920951]|Heterozygous||T|A|69|36.0|Non-synonymous|Alive, Line Propagating
6511669|IGL01309|7|123171494|I->F|||MGI:2385292|Tnrc6a|trinucleotide repeat containing 6a [Source:MGI Symbol;Acc:MGI:2385292]|Heterozygous||A|T|64|38.0|Non-synonymous|Alive, Line Propagating
6511670|IGL01309|9|111273528|V->A|0.01|Benign|MGI:1925031|Epm2aip1|EPM2A (laforin) interacting protein 1 [Source:MGI Symbol;Acc:MGI:1925031]|Heterozygous||T|C|64|38.5|Non-synonymous|Alive, Line Propagating
6511671|IGL01309|9|6265773|R->G|1.0|Probably damaging|MGI:1919079, MGI:1919035|Pdgfd,ddi1|DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919079],platelet-derived growth factor, D polypeptide [Source:MGI Symbol;Acc:MGI:1919035]|Heterozygous||T|C|62|40.0|Non-synonymous|Alive, Line Propagating
6511672|IGL01309|16|88778331|S->A|0.76|Possibly damaging|MGI:3645197|Gm5965|predicted gene 5965 [Source:MGI Symbol;Acc:MGI:3645197]|Heterozygous||T|G|61|37.0|Non-synonymous|Alive, Line Propagating
6511673|IGL01309|2|132550324|D->G|0.95|Possibly damaging|MGI:104898|Gpcpd1|glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:104898]|Heterozygous||T|C|59|40.0|Non-synonymous|Alive, Line Propagating
6511674|IGL01309|9|108948958|L->Q|0.46|Possibly damaging|MGI:107876|Uqcrc1|ubiquinol-cytochrome c reductase core protein 1 [Source:MGI Symbol;Acc:MGI:107876]|Heterozygous||T|A|57|39.0|Non-synonymous|Alive, Line Propagating
6511675|IGL01309|4|116096466|L->P|1.0|Probably damaging|MGI:2441984|Lrrc41|leucine rich repeat containing 41 [Source:MGI Symbol;Acc:MGI:2441984]|Heterozygous||T|C|55|37.0|Non-synonymous|Alive, Line Propagating
6511676|IGL01309|2|83879447|Q->Stop||N/A|MGI:2444579|Fam171b|family with sequence similarity 171, member B [Source:MGI Symbol;Acc:MGI:2444579]|Heterozygous||C|T|54|39.0|Non-synonymous|Alive, Line Propagating
6511677|IGL01309|4|18116185|I->M|0.9|Possibly damaging|MGI:1276107|Mmp16|matrix metallopeptidase 16 [Source:MGI Symbol;Acc:MGI:1276107]|Heterozygous|Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a null allele exhibit reduced skeletal growth.|A|G|53|38.0|Non-synonymous|Alive, Line Propagating
6511678|IGL01309|15|5242758|Y->N|1.0|Probably damaging|MGI:104311|Ptger4|prostaglandin E receptor 4 (subtype EP4) [Source:MGI Symbol;Acc:MGI:104311]|Heterozygous|Most homozygous targeted null mutants die shortly after birth due to failed closure of the ductus arteriosis. Survivors show decreased migration of Langerhans cells to lymph nodes, contact hypersensitivity and decreased incidence of induced arthritis.|A|T|50|36.5|Non-synonymous|Alive, Line Propagating
6511679|IGL01309|14|30891749|D->Y|1.0|Probably damaging|MGI:109536|Itih4|inter alpha-trypsin inhibitor, heavy chain 4 [Source:MGI Symbol;Acc:MGI:109536]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated.|G|T|44|37.0|Non-synonymous|Alive, Line Propagating
6511680|IGL01309|6|139493258|K->Stop||N/A|MGI:3642998|Rergl|RERG/RAS-like [Source:MGI Symbol;Acc:MGI:3642998]|Heterozygous||T|A|44|40.0|Non-synonymous|Alive, Line Propagating
6511681|IGL01309|9|38664993|I->L||Benign|MGI:3030751|Olfr917|olfactory receptor 917 [Source:MGI Symbol;Acc:MGI:3030751]|Heterozygous||T|A|44|40.0|Non-synonymous|Alive, Line Propagating
6511682|IGL01309|16|17113546|V->A|0.46|Possibly damaging|MGI:1917708|2610318n02rik|RIKEN cDNA 2610318N02 gene [Source:MGI Symbol;Acc:MGI:1917708]|Heterozygous||A|G|42|39.0|Non-synonymous|Alive, Line Propagating
6511683|IGL01309|4|44926060|H->L|1.0|Probably damaging|MGI:2442912|Zcchc7|zinc finger, CCHC domain containing 7 [Source:MGI Symbol;Acc:MGI:2442912]|Heterozygous||A|T|41|40.0|Non-synonymous|Alive, Line Propagating
6511684|IGL01309|12|76587463|D->V|0.17|Benign|MGI:98387|Spnb1|spectrin beta 1 [Source:MGI Symbol;Acc:MGI:98387]|Heterozygous|Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.|T|A|40|33.0|Non-synonymous|Alive, Line Propagating
6511685|IGL01309|2|178358111|D->A|0.66|Possibly damaging|MGI:1933281|Sycp2|synaptonemal complex protein 2 [Source:MGI Symbol;Acc:MGI:1933281]|Heterozygous|Male mice homozygous for a knock-out allele are sterile due to lack of axial element formation and subsequent failure of chromosome synapsis in prophase I spermatocytes, while females are subfertile with a sharply reduced litter size.|T|G|40|41.0|Non-synonymous|Alive, Line Propagating
6511686|IGL01309|12|82387696|E->K|0.01|Benign|MGI:2443679|Sipa1l1|signal-induced proliferation-associated 1 like 1 [Source:MGI Symbol;Acc:MGI:2443679]|Heterozygous||G|A|36|40.0|Non-synonymous|Alive, Line Propagating
6511687|IGL01309|2|91678831|I->F|0.07|Benign|MGI:1196429|Atg13|autophagy related 13 [Source:MGI Symbol;Acc:MGI:1196429]|Heterozygous||T|A|30|40.0|Non-synonymous|Alive, Line Propagating
6511688|IGL01309|14|63526805|L->P|1.0|Probably damaging|MGI:2442842|Mtmr9|myotubularin related protein 9 [Source:MGI Symbol;Acc:MGI:2442842]|Heterozygous||A|G|28|39.5|Non-synonymous|Alive, Line Propagating
6511689|IGL01309|1|133914807|H->R|0.05|Benign|MGI:2151110|Prelp|proline arginine-rich end leucine-rich repeat [Source:MGI Symbol;Acc:MGI:2151110]|Heterozygous||T|C|25|40.0|Non-synonymous|Alive, Line Propagating
6511690|IGL01309|10|119931302|K->Stop||N/A|MGI:1921303|Grip1|glutamate receptor interacting protein 1 [Source:MGI Symbol;Acc:MGI:1921303]|Heterozygous|Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions.|A|T|25|37.0|Non-synonymous|Alive, Line Propagating
6511691|IGL01309|2|120018942|F->L|1.0|Probably damaging|MGI:1347004|Mapkbp1|mitogen-activated protein kinase binding protein 1 [Source:MGI Symbol;Acc:MGI:1347004]|Heterozygous||T|C|24|41.0|Non-synonymous|Alive, Line Propagating
6511693|IGL01309|11|50803701|D->G||Benign|MGI:1347356|Adamts2|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 [Source:MGI Symbol;Acc:MGI:1347356]|Heterozygous|Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling.|A|G|23|39.0|Non-synonymous|Alive, Line Propagating
6511694|IGL01309|2|143078612|V->A|0.44|Possibly damaging|MGI:1888678|Otor|otoraplin [Source:MGI Symbol;Acc:MGI:1888678]|Heterozygous||T|C|22|39.0|Non-synonymous|Alive, Line Propagating
6511695|IGL01309|12|69841963|D->G||Benign|MGI:1925503|Map4k5|mitogen-activated protein kinase kinase kinase kinase 5 [Source:MGI Symbol;Acc:MGI:1925503]|Heterozygous|Mice homozygous for a knock-out allele are viable and phenotypically normal but show impaired canonical and noncanonical Wnt signaling in progenitor B lymphocytes.|T|C|20|37.0|Non-synonymous|Alive, Line Propagating
6511696|IGL01309|2|18672478|E->G|0.99|Probably damaging|MGI:88218|Commd3|COMM domain containing 3 [Source:MGI Symbol;Acc:MGI:88218]|Heterozygous||A|G|19|35.0|Non-synonymous|Alive, Line Propagating
6511697|IGL01309|2|88700966|Y->S|1.0|Probably damaging|MGI:3031030|Olfr1196|olfactory receptor 1196 [Source:MGI Symbol;Acc:MGI:3031030]|Heterozygous||T|G|19|37.0|Non-synonymous|Alive, Line Propagating
6511698|IGL01309|5|35079568|G->D|0.9|Possibly damaging|MGI:3584043|Dok7|docking protein 7 [Source:MGI Symbol;Acc:MGI:3584043]|Heterozygous||G|A|19|35.0|Non-synonymous|Alive, Line Propagating
6511699|IGL01309|8|84523028|G->D||Benign|MGI:109482|Cacna1a|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482]|Heterozygous|Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.|G|A|19|39.0|Non-synonymous|Alive, Line Propagating
6511700|IGL01309|1|25112271|M->L|0.64|Possibly damaging|MGI:2441837|Bai3|brain-specific angiogenesis inhibitor 3 [Source:MGI Symbol;Acc:MGI:2441837]|Heterozygous||T|A|18|38.5|Non-synonymous|Alive, Line Propagating
6511701|IGL01309|2|91570184|V->A|||MGI:1923036|Ckap5|cytoskeleton associated protein 5 [Source:MGI Symbol;Acc:MGI:1923036]|Heterozygous||T|C|15|38.0|Non-synonymous|Alive, Line Propagating
6511702|IGL01309|11|69357731|V->I|0.99|Probably damaging|MGI:1344395|Chd3|chromodomain helicase DNA binding protein 3 [Source:MGI Symbol;Acc:MGI:1344395]|Heterozygous||C|T|10|33.5|Non-synonymous|Alive, Line Propagating
6511703|IGL01309|4|86805487|Disrupted splicing|||MGI:1914769|Dennd4c|DENN/MADD domain containing 4C [Source:MGI Symbol;Acc:MGI:1914769]|Heterozygous||A|G|58|40.0|Splice|Alive, Line Propagating
6511704|IGL01309|17|57209652|Disrupted splicing|||MGI:88227|C3|complement component 3 [Source:MGI Symbol;Acc:MGI:88227]|Heterozygous|Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.|C|T|55|39.0|Splice|Alive, Line Propagating
6511705|IGL01309|14|30035804|Disrupted splicing|||MGI:1860776|Chdh|choline dehydrogenase [Source:MGI Symbol;Acc:MGI:1860776]|Heterozygous|Homozygous male mutants show reduced fertility due to reduced sperm motility caused by abnormal mitochondrial function and structures.|T|G|31|40.0|Splice|Alive, Line Propagating
6511706|IGL01309|8|84846706|Disrupted splicing|||MGI:88252|Calr|calreticulin [Source:MGI Symbol;Acc:MGI:88252]|Heterozygous|Homozygotes for targeted null mutations exhibit decreased cardiac cell mass, increased apoptosis of cardiac myocytes, neural tube defects (sometimes associated with exencephaly), omphalocele, and mid- to late-gestational lethality.|A|G|23|37.0|Splice|Alive, Line Propagating
6511707|IGL01309|3|146163527|Disrupted splicing|||MGI:1915529|Mcoln2|mucolipin 2 [Source:MGI Symbol;Acc:MGI:1915529]|Heterozygous||T|C|22|39.0|Splice|Alive, Line Propagating
6511708|IGL01309|17|37048607|Disrupted splicing|||MGI:1860139|Gabbr1|gamma-aminobutyric acid (GABA) B receptor, 1 [Source:MGI Symbol;Acc:MGI:1860139]|Heterozygous|Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology.|G|A|18|39.0|Splice|Alive, Line Propagating
6511709|IGL01309|2|180175963|Disrupted splicing|||MGI:1929289|Adrm1|adhesion regulating molecule 1 [Source:MGI Symbol;Acc:MGI:1929289]|Heterozygous|Mice homozygous for a gene trap allele exhibit decreased birth weight, reduced competition for food, postnatal lethality, infertility, impaired sperm and oocyte development, increased peripheral CD4+ and CD8+ T cells, and increased serum GH and FSH levels.|A|G|13|37.0|Splice|Alive, Line Propagating
6512312|IGL01310|2|111912307|V->M|0.01|Benign|MGI:3031140|Olfr1306|olfactory receptor 1306 [Source:MGI Symbol;Acc:MGI:3031140]|Heterozygous||C|T|159|40.0|Non-synonymous|Alive, Line Propagating
6512313|IGL01310|10|43975058|S->T|0.03|Benign|MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||A|T|100|39.0|Non-synonymous|Alive, Line Propagating
6512314|IGL01310|10|129250996|I->T|0.93|Possibly damaging|MGI:3030609|Olfr775|olfactory receptor 775 [Source:MGI Symbol;Acc:MGI:3030609]|Heterozygous||T|C|92|40.0|Non-synonymous|Alive, Line Propagating
6512315|IGL01310|2|87607508|I->N|0.76|Possibly damaging|MGI:3030964|Olfr1130|olfactory receptor 1130 [Source:MGI Symbol;Acc:MGI:3030964]|Heterozygous||T|A|87|40.0|Non-synonymous|Alive, Line Propagating
6512316|IGL01310|6|124699338|F->S|0.8|Possibly damaging|MGI:1315211|Lpcat3|lysophosphatidylcholine acyltransferase 3 [Source:MGI Symbol;Acc:MGI:1315211]|Heterozygous||T|C|81|38.0|Non-synonymous|Alive, Line Propagating
6512317|IGL01310|17|31215142|I->L|0.07|Benign|MGI:1926074|Ubash3a|ubiquitin associated and SH3 domain containing, A [Source:MGI Symbol;Acc:MGI:1926074]|Heterozygous|Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages.|A|C|74|37.0|Non-synonymous|Alive, Line Propagating
6512318|IGL01310|5|127632320|T->A|0.99|Probably damaging|MGI:2442755|Glt1d1|glycosyltransferase 1 domain containing 1 [Source:MGI Symbol;Acc:MGI:2442755]|Heterozygous||A|G|74|35.0|Non-synonymous|Alive, Line Propagating
6512319|IGL01310|1|169498862|V->E|0.01|Benign|MGI:1914227|Nuf2|NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1914227]|Heterozygous||A|T|72|35.0|Non-synonymous|Alive, Line Propagating
6512320|IGL01310|9|118769159|M->K|0.04|Benign|MGI:104756|Itga9|integrin alpha 9 [Source:MGI Symbol;Acc:MGI:104756]|Heterozygous|Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall.|T|A|72|39.0|Non-synonymous|Alive, Line Propagating
6512321|IGL01310|7|103560801|S->F||Benign|MGI:3030449|Olfr615|olfactory receptor 615 [Source:MGI Symbol;Acc:MGI:3030449]|Heterozygous||C|T|63|41.0|Non-synonymous|Alive, Line Propagating
6512322|IGL01310|14|123317249|R->Q|0.01|Benign|MGI:2444306|Nalcn|sodium leak channel, non-selective [Source:MGI Symbol;Acc:MGI:2444306]|Heterozygous|Mice homozygous for a null allele exhibit abnormal breathing at birth and die within 24 hours.|C|T|53|40.0|Non-synonymous|Alive, Line Propagating
6512323|IGL01310|19|24834766|V->A|0.5|Possibly damaging|MGI:1925668|Pgm5|phosphoglucomutase 5 [Source:MGI Symbol;Acc:MGI:1925668]|Heterozygous||A|G|51|38.0|Non-synonymous|Alive, Line Propagating
6512324|IGL01310|8|24742134|S->N||Unknown|MGI:104730|Adam5|a disintegrin and metallopeptidase domain 5 [Source:MGI Symbol;Acc:MGI:104730]|Heterozygous||C|T|51|40.0|Non-synonymous|Alive, Line Propagating
6512325|IGL01310|17|46413227|I->T|0.12|Benign|MGI:1889348|Zfp318|zinc finger protein 318 [Source:MGI Symbol;Acc:MGI:1889348]|Heterozygous||T|C|44|39.0|Non-synonymous|Alive, Line Propagating
6512326|IGL01310|1|71284156|I->N||Benign|MGI:2676312|Abca12|ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.|A|T|43|40.0|Non-synonymous|Alive, Line Propagating
6512327|IGL01310|19|12428610|D->G|1.0|Probably damaging|MGI:1860266|Pfpl|pore forming protein-like [Source:MGI Symbol;Acc:MGI:1860266]|Heterozygous||A|G|43|40.0|Non-synonymous|Alive, Line Propagating
6512328|IGL01310|4|64013077|T->A|0.99|Probably damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|T|C|42|37.0|Non-synonymous|Alive, Line Propagating
6512329|IGL01310|1|190783625|E->V|0.95|Possibly damaging|MGI:2443419|Rps6kc1|ribosomal protein S6 kinase polypeptide 1 [Source:MGI Symbol;Acc:MGI:2443419]|Heterozygous||T|A|41|38.0|Non-synonymous|Alive, Line Propagating
6512330|IGL01310|6|27363801|I->V|0.6|Possibly damaging|MGI:1351345|Grm8|glutamate receptor, metabotropic 8 [Source:MGI Symbol;Acc:MGI:1351345]|Heterozygous||T|C|40|37.0|Non-synonymous|Alive, Line Propagating
6512331|IGL01310|2|76876535|D->G||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|38|39.5|Non-synonymous|Alive, Line Propagating
6512332|IGL01310|19|29952756|A->T||Benign|MGI:1924375|Il33|interleukin 33 [Source:MGI Symbol;Acc:MGI:1924375]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased inflammatory reaction to ovalbumin, papain, and LPS endotoxin shock but increased susceptibility to DSS-induced colitis.|G|A|36|36.5|Non-synonymous|Alive, Line Propagating
6512333|IGL01310|12|73759013|I->V|0.99|Probably damaging|MGI:97600|Prkch|protein kinase C, eta [Source:MGI Symbol;Acc:MGI:97600]|Heterozygous|Homozygous mutation of this gene results in increased sensitivity to induced skin tumors, epidermal hyperplasia, and delayed wound healing.|A|G|32|36.0|Non-synonymous|Alive, Line Propagating
6512334|IGL01310|3|87089875|E->K|0.57|Possibly damaging|MGI:1891396|Kirrel|kin of IRRE like (Drosophila) [Source:MGI Symbol;Acc:MGI:1891396]|Heterozygous|Mice homozygous for a gene trap insertion exhibit postnatal lethality and are small and sickly. Glomerular and tubular defects in the kidney result in severe proteinuria.|C|T|31|39.0|Non-synonymous|Alive, Line Propagating
6512335|IGL01310|5|52554465|P->Q|0.44|Possibly damaging|MGI:2180196|Lgi2|leucine-rich repeat LGI family, member 2 [Source:MGI Symbol;Acc:MGI:2180196]|Heterozygous||G|T|30|38.5|Non-synonymous|Alive, Line Propagating
6512336|IGL01310|14|75769597|Y->C|1.0|Probably damaging|MGI:1914804|Slc25a30|solute carrier family 25, member 30 [Source:MGI Symbol;Acc:MGI:1914804]|Heterozygous||T|C|28|38.0|Non-synonymous|Alive, Line Propagating
6512337|IGL01310|2|24685782|N->K|0.99|Probably damaging|MGI:88296|Cacna1b|calcium channel, voltage-dependent, N type, alpha 1B subunit [Source:MGI Symbol;Acc:MGI:88296]|Heterozygous|Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation.|A|T|28|40.0|Non-synonymous|Alive, Line Propagating
6512338|IGL01310|9|25150951|M->V||Benign|MGI:1915393|Herpud2|HERPUD family member 2 [Source:MGI Symbol;Acc:MGI:1915393]|Heterozygous||T|C|28|40.0|Non-synonymous|Alive, Line Propagating
6512339|IGL01310|3|129858431|N->K|1.0|Probably damaging|MGI:105937|Cfi|complement component factor i [Source:MGI Symbol;Acc:MGI:105937]|Heterozygous|Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritis type II. Plasma C3 circulates as C3b.|T|A|27|39.0|Non-synonymous|Alive, Line Propagating
6512340|IGL01310|10|44003600|S->P|1.0|Probably damaging|MGI:109544|Aim1|absent in melanoma 1 [Source:MGI Symbol;Acc:MGI:109544]|Heterozygous||A|G|26|32.5|Non-synonymous|Alive, Line Propagating
6512341|IGL01310|6|50574195|V->L||Benign|MGI:1918071|4921507p07rik|RIKEN cDNA 4921507P07 gene [Source:MGI Symbol;Acc:MGI:1918071]|Heterozygous||C|A|26|41.0|Non-synonymous|Alive, Line Propagating
6512342|IGL01310|5|44967814|M->L||Unknown|MGI:1923033|4930431f12rik|RIKEN cDNA 4930431F12 gene [Source:MGI Symbol;Acc:MGI:1923033]|Heterozygous||A|T|25|39.0|Non-synonymous|Alive, Line Propagating
6512343|IGL01310|1|91340611|K->Stop||N/A|MGI:2685402|Espnl|espin-like [Source:MGI Symbol;Acc:MGI:2685402]|Heterozygous||A|T|23|37.0|Non-synonymous|Alive, Line Propagating
6512344|IGL01310|11|110059975|D->A|||MGI:2386846|Abca8a|ATP-binding cassette, sub-family A (ABC1), member 8a [Source:MGI Symbol;Acc:MGI:2386846]|Heterozygous||T|G|21|39.0|Non-synonymous|Alive, Line Propagating
6512345|IGL01310|19|55078332|A->T|0.36|Benign|MGI:109162|Gpam|glycerol-3-phosphate acyltransferase, mitochondrial [Source:MGI Symbol;Acc:MGI:109162]|Heterozygous|Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.|C|T|21|39.0|Non-synonymous|Alive, Line Propagating
6512346|IGL01310|18|84670877|P->Q|1.0|Probably damaging|MGI:1913304|Cndp2|CNDP dipeptidase 2 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:1913304]|Heterozygous||G|T|20|35.5|Non-synonymous|Alive, Line Propagating
6512347|IGL01310|5|75949601|P->S|1.0|Probably damaging|MGI:96683|Kdr|kinase insert domain protein receptor [Source:MGI Symbol;Acc:MGI:96683]|Heterozygous|Homozygous mice die at early embryonic stages due to failure of blood vessel formation.|G|A|18|38.0|Non-synonymous|Alive, Line Propagating
6512348|IGL01310|11|99318170|Q->L|0.8|Possibly damaging|MGI:1918060|Krt25|keratin 25 [Source:MGI Symbol;Acc:MGI:1918060]|Heterozygous|Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth.|T|A|17|36.0|Non-synonymous|Alive, Line Propagating
6512349|IGL01310|13|8977272|N->K||Benign|MGI:1916487|Gtpbp4|GTP binding protein 4 [Source:MGI Symbol;Acc:MGI:1916487]|Heterozygous||A|T|17|39.0|Non-synonymous|Alive, Line Propagating
6512350|IGL01310|6|134869742|I->T|0.23|Benign|MGI:892973|Gpr19|G protein-coupled receptor 19 [Source:MGI Symbol;Acc:MGI:892973]|Heterozygous|Homozygous mutation of this gene results in increased anxiety-like behavior.|A|G|16|33.5|Non-synonymous|Alive, Line Propagating
6512351|IGL01310|X|95427110|N->K|||MGI:1919595|Fam123b|family with sequence similarity 123, member B [Source:MGI Symbol;Acc:MGI:1919595]|Heterozygous|Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification.|A|T|16|39.0|Non-synonymous|Alive, Line Propagating
6512352|IGL01310|5|36543200|K->Stop||N/A|MGI:1098708|Tbc1d14|TBC1 domain family, member 14 [Source:MGI Symbol;Acc:MGI:1098708]|Heterozygous||T|A|15|37.0|Non-synonymous|Alive, Line Propagating
6512353|IGL01310|5|124646028|D->G|1.0|Probably damaging|MGI:104855|Atp6v0a2|ATPase, H+ transporting, lysosomal V0 subunit A2 [Source:MGI Symbol;Acc:MGI:104855]|Heterozygous||A|G|15|38.0|Non-synonymous|Alive, Line Propagating
6512354|IGL01310|9|60872225|M->T||Benign|MGI:1919815|Uaca|uveal autoantigen with coiled-coil domains and ankyrin repeats [Source:MGI Symbol;Acc:MGI:1919815]|Heterozygous|Homozygous mice display swelling of and inflammatory lesions in the preputial gland.|T|C|14|37.5|Non-synonymous|Alive, Line Propagating
6512355|IGL01310|1|36512875|D->G|1.0|Probably damaging|MGI:2151055|Cnnm3|cyclin M3 [Source:MGI Symbol;Acc:MGI:2151055]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive, Line Propagating
6512356|IGL01310|6|91490107|K->E|0.01|Benign|MGI:103557|Xpc|xeroderma pigmentosum, complementation group C [Source:MGI Symbol;Acc:MGI:103557]|Heterozygous|Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair.|T|C|13|38.0|Non-synonymous|Alive, Line Propagating
6512357|IGL01310|9|65178442|V->A|1.0|Probably damaging|MGI:1202390|Igdcc3|immunoglobulin superfamily, DCC subclass, member 3 [Source:MGI Symbol;Acc:MGI:1202390]|Heterozygous|Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function.|T|C|12|34.0|Non-synonymous|Alive, Line Propagating
6512358|IGL01310|3|64409779|Disrupted splicing|||MGI:3648229|Vmn2r4|vomeronasal 2, receptor 4 [Source:MGI Symbol;Acc:MGI:3648229]|Heterozygous||T|A|84|39.0|Splice|Alive, Line Propagating
6512359|IGL01310|11|72401345|Disrupted splicing|||MGI:2442764|Smtnl2|smoothelin-like 2 [Source:MGI Symbol;Acc:MGI:2442764]|Heterozygous||T|A|34|36.0|Splice|Alive, Line Propagating
6512360|IGL01310|17|90059474|Disrupted splicing|||MGI:1096391|Nrxn1|neurexin I [Source:MGI Symbol;Acc:MGI:1096391]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin-triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+).|A|G|26|38.5|Splice|Alive, Line Propagating
6512361|IGL01310|10|33305098|Disrupted splicing|||MGI:1924007|Trdn|triadin [Source:MGI Symbol;Acc:MGI:1924007]|Heterozygous|Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells.|A|T|23|40.0|Splice|Alive, Line Propagating
6512362|IGL01310|4|92146980|Disrupted splicing|||MGI:1916564|Izumo3|IZUMO family member 3 [Source:MGI Symbol;Acc:MGI:1916564]|Heterozygous||T|C|18|37.5|Splice|Alive, Line Propagating
6512978|IGL01311|11|103534676|R->S||Unknown|MGI:2685730|Gm884|predicted gene 884 [Source:MGI Symbol;Acc:MGI:2685730]|Heterozygous||T|A|181|36.0|Non-synonymous|Alive, Line Propagating
6512979|IGL01311|17|20462677|L->Stop||N/A|MGI:3643822|Vmn2r108|vomeronasal 2, receptor 108 [Source:MGI Symbol;Acc:MGI:3643822]|Heterozygous||A|T|62|40.0|Non-synonymous|Alive, Line Propagating
6512980|IGL01311|12|104267687|S->P|1.0|Probably damaging|MGI:2182841|Serpina3i|serine (or cysteine) peptidase inhibitor, clade A, member 3I [Source:MGI Symbol;Acc:MGI:2182841]|Heterozygous||T|C|60|39.0|Non-synonymous|Alive, Line Propagating
6512981|IGL01311|2|3409208|V->D|0.61|Possibly damaging|MGI:1202878|Meig1|meiosis expressed gene 1 [Source:MGI Symbol;Acc:MGI:1202878]|Heterozygous|Mice homozygous for a knock-out allele exhibit male sterility with arrested spermatogenesis, absent sperm flagellum, and deformed sperm heads.|A|T|53|39.0|Non-synonymous|Alive, Line Propagating
6512982|IGL01311|4|134230466|L->P|1.0|Probably damaging|MGI:2670958|Cnksr1|connector enhancer of kinase suppressor of Ras 1 [Source:MGI Symbol;Acc:MGI:2670958]|Heterozygous||A|G|49|38.0|Non-synonymous|Alive, Line Propagating
6512983|IGL01311|6|29586078|E->G|0.16|Benign|MGI:1196412|Tnpo3|transportin 3 [Source:MGI Symbol;Acc:MGI:1196412]|Heterozygous||T|C|49|38.0|Non-synonymous|Alive, Line Propagating
6512984|IGL01311|3|107292505|V->F|0.84|Possibly damaging|MGI:2385183|Slc16a4|solute carrier family 16 (monocarboxylic acid transporters), member 4 [Source:MGI Symbol;Acc:MGI:2385183]|Heterozygous||G|T|47|39.0|Non-synonymous|Alive, Line Propagating
6512985|IGL01311|2|88525760|F->S|0.73|Possibly damaging|MGI:3031020|Olfr1186|olfactory receptor 1186 [Source:MGI Symbol;Acc:MGI:3031020]|Heterozygous||T|C|42|40.0|Non-synonymous|Alive, Line Propagating
6512986|IGL01311|4|34807961|M->I||Benign|MGI:1353423|Zfp292|zinc finger protein 292 [Source:MGI Symbol;Acc:MGI:1353423]|Heterozygous||C|T|42|40.0|Non-synonymous|Alive, Line Propagating
6512987|IGL01311|13|3575885|V->A|0.09|Benign|MGI:2145274|Bc016423|cDNA sequence BC016423 [Source:MGI Symbol;Acc:MGI:2145274]|Heterozygous||A|G|37|37.0|Non-synonymous|Alive, Line Propagating
6512988|IGL01311|4|139479045|H->R|1.0|Probably damaging|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||A|G|36|35.5|Non-synonymous|Alive, Line Propagating
6512989|IGL01311|7|104564829|Y->H|1.0|Probably damaging|MGI:3030486|Olfr652|olfactory receptor 652 [Source:MGI Symbol;Acc:MGI:3030486]|Heterozygous||T|C|35|40.0|Non-synonymous|Alive, Line Propagating
6512990|IGL01311|9|27098723|T->P|0.98|Probably damaging|MGI:1933825|Jam3|junction adhesion molecule 3 [Source:MGI Symbol;Acc:MGI:1933825]|Heterozygous|Approximately 60% of mice homozygous for a targeted mutation exhibit postnatal lethality. Males are infertile and display small testes and arrested differentiation of round spermatids into spermatozoa, as shown by the absence of acrosomes, elongated nuclei, and morphological signs of polarization.|T|G|35|39.0|Non-synonymous|Alive, Line Propagating
6512991|IGL01311|5|34167644|Q->Stop||N/A|MGI:2387633|Haus3|HAUS augmin-like complex, subunit 3 [Source:MGI Symbol;Acc:MGI:2387633]|Heterozygous||G|A|34|39.0|Non-synonymous|Alive, Line Propagating
6512992|IGL01311|7|48551998|E->D|0.18|Benign|MGI:2441674|Mrgprb2|MAS-related GPR, member B2 [Source:MGI Symbol;Acc:MGI:2441674]|Heterozygous||T|A|34|36.0|Non-synonymous|Alive, Line Propagating
6512993|IGL01311|4|141621436|T->I|0.95|Probably damaging|MGI:2686215|Slc25a34|solute carrier family 25, member 34 [Source:MGI Symbol;Acc:MGI:2686215]|Heterozygous||G|A|33|34.0|Non-synonymous|Alive, Line Propagating
6512994|IGL01311|7|101388136|K->Stop||N/A|MGI:1916960|Arap1|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 [Source:MGI Symbol;Acc:MGI:1916960]|Heterozygous||A|T|30|39.0|Non-synonymous|Alive, Line Propagating
6512995|IGL01311|1|71628140|D->G|0.97|Probably damaging|MGI:95566|Fn1|fibronectin 1 [Source:MGI Symbol;Acc:MGI:95566]|Heterozygous|Mutants are defective in mesodermal function. Null mutants are embryonic lethal with major patterning and organizational defects. Conditional mutants live and show increased neuronal apoptosis and susceptibility to induced cerebral ischemia.|T|C|27|37.0|Non-synonymous|Alive, Line Propagating
6512996|IGL01311|2|165805209|D->G|||MGI:1918025|Zmynd8|zinc finger, MYND-type containing 8 [Source:MGI Symbol;Acc:MGI:1918025]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive, Line Propagating
6512997|IGL01311|6|129641412|D->G|1.0|Probably damaging|MGI:1929720|Klrc3|killer cell lectin-like receptor subfamily C, member 3 [Source:MGI Symbol;Acc:MGI:1929720]|Heterozygous||T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6512998|IGL01311|14|61611825|L->P|0.94|Possibly damaging|MGI:2685591|Kcnrg|potassium channel regulator [Source:MGI Symbol;Acc:MGI:2685591]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive, Line Propagating
6512999|IGL01311|19|29754020|V->I|||MGI:2444398|9930021j03rik|RIKEN cDNA 9930021J03 gene [Source:MGI Symbol;Acc:MGI:2444398]|Heterozygous||C|T|26|41.0|Non-synonymous|Alive, Line Propagating
6513000|IGL01311|4|140917637|V->I|0.31|Benign|MGI:1338892|Padi2|peptidyl arginine deiminase, type II [Source:MGI Symbol;Acc:MGI:1338892]|Heterozygous||G|A|23|37.0|Non-synonymous|Alive, Line Propagating
6513001|IGL01311|8|70165168|S->G|||MGI:1919618, MGI:104526|2310045n01rik,mef2b|myocyte enhancer factor 2B [Source:MGI Symbol;Acc:MGI:104526],RIKEN cDNA 2310045N01 gene [Source:MGI Symbol;Acc:MGI:1919618]|Heterozygous||A|G|21|36.0|Non-synonymous|Alive, Line Propagating
6513002|IGL01311|11|8901174|S->G|0.99|Probably damaging|MGI:2156538|Pkd1l1|polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]|Heterozygous|Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.|T|C|18|40.0|Non-synonymous|Alive, Line Propagating
6513003|IGL01311|11|29194591|S->P||Benign|MGI:2144474|Smek2|SMEK homolog 2, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:2144474]|Heterozygous||T|C|18|40.0|Non-synonymous|Alive, Line Propagating
6513004|IGL01311|7|5319239|D->V|0.89|Possibly damaging|MGI:3041206|Nlrp2|NLR family, pyrin domain containing 2 [Source:MGI Symbol;Acc:MGI:3041206]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive, Line Propagating
6513005|IGL01311|11|101291516|G->S|1.0|Probably damaging|MGI:1891828|Becn1|beclin 1, autophagy related [Source:MGI Symbol;Acc:MGI:1891828]|Heterozygous|Haploinsufficiency of this locus results in increased tumorigenesis.|C|T|17|40.0|Non-synonymous|Alive, Line Propagating
6513006|IGL01311|4|149220602|L->P|0.71|Possibly damaging|MGI:108426|Kif1b|kinesin family member 1B [Source:MGI Symbol;Acc:MGI:108426]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness.|A|G|17|38.0|Non-synonymous|Alive, Line Propagating
6513007|IGL01311|7|98161923|R->L|1.0|Probably damaging|MGI:1100859|Capn5|calpain 5 [Source:MGI Symbol;Acc:MGI:1100859]|Heterozygous|Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos.|C|A|17|36.0|Non-synonymous|Alive, Line Propagating
6513008|IGL01311|5|24419595|Disrupted splicing|||MGI:101765|Cdk5|cyclin-dependent kinase 5 [Source:MGI Symbol;Acc:MGI:101765]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality and abnormalities of the cerebellum and nervous system. Mutant mice are cyanotic, hypoactive, exhibit shallow breathing, and fail to suckle.|C|T|162|36.0|Splice|Alive, Line Propagating
6513009|IGL01311|8|14991054|Disrupted splicing|||MGI:2444453|Arhgef10|Rho guanine nucleotide exchange factor (GEF) 10 [Source:MGI Symbol;Acc:MGI:2444453]|Heterozygous||C|A|58|36.5|Splice|Alive, Line Propagating
6513010|IGL01311|18|43557324|Disrupted splicing|||MGI:1923467|Jakmip2|janus kinase and microtubule interacting protein 2 [Source:MGI Symbol;Acc:MGI:1923467]|Heterozygous||A|G|40|38.0|Splice|Alive, Line Propagating
6513011|IGL01311|15|71973637|Disrupted splicing|||MGI:1916950|Col22a1|collagen, type XXII, alpha 1 [Source:MGI Symbol;Acc:MGI:1916950]|Heterozygous||C|T|19|39.0|Splice|Alive, Line Propagating
6513012|IGL01311|15|82192203|Disrupted splicing|||MGI:107585|Srebf2|sterol regulatory element binding factor 2 [Source:MGI Symbol;Acc:MGI:107585]|Heterozygous||T|C|16|38.5|Splice|Alive, Line Propagating
6513013|IGL01311|9|111031012|Disrupted splicing|||MGI:96837|Ltf|lactotransferrin [Source:MGI Symbol;Acc:MGI:96837]|Heterozygous||T|C|16|40.5|Splice|Alive, Line Propagating
6513014|IGL01311|9|71858656|Disrupted splicing|||MGI:101877|Tcf12|transcription factor 12 [Source:MGI Symbol;Acc:MGI:101877]|Heterozygous|Mice homozygous for a targeted null mutation exhibit postnatal lethality within two weeks of birth and a 50% reduction in the number of pro-B cells.|A|T|11|38.0|Splice|Alive, Line Propagating
6513650|IGL01312|2|87575174|Q->R|0.21|Benign|MGI:3030963|Olfr1129|olfactory receptor 1129 [Source:MGI Symbol;Acc:MGI:3030963]|Heterozygous||A|G|127|40.0|Non-synonymous|Alive, Line Propagating
6513651|IGL01312|6|128373374|F->S|0.94|Possibly damaging|MGI:1347487|Foxm1|forkhead box M1 [Source:MGI Symbol;Acc:MGI:1347487]|Heterozygous||T|C|115|37.0|Non-synonymous|Alive, Line Propagating
6513652|IGL01312|14|34268193|D->G|0.93|Possibly damaging|MGI:1922948|Fam35a|family with sequence similarity 35, member A [Source:MGI Symbol;Acc:MGI:1922948]|Heterozygous||T|C|95|39.0|Non-synonymous|Alive, Line Propagating
6513653|IGL01312|2|51628235|L->H|1.0|Probably damaging|MGI:2681300|Tas2r134|taste receptor, type 2, member 134 [Source:MGI Symbol;Acc:MGI:2681300]|Heterozygous||T|A|89|39.0|Non-synonymous|Alive, Line Propagating
6513654|IGL01312|15|80923578|R->H|1.0|Probably damaging|MGI:2443730|Tnrc6b|trinucleotide repeat containing 6b [Source:MGI Symbol;Acc:MGI:2443730]|Heterozygous||G|A|65|34.0|Non-synonymous|Alive, Line Propagating
6513655|IGL01312|11|17945909|L->S|0.6|Possibly damaging|MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||A|G|56|41.0|Non-synonymous|Alive, Line Propagating
6513656|IGL01312|8|71622776|R->H|1.0|Probably damaging|MGI:1924348|Glt25d1|glycosyltransferase 25 domain containing 1 [Source:MGI Symbol;Acc:MGI:1924348]|Heterozygous||G|A|52|39.0|Non-synonymous|Alive, Line Propagating
6513657|IGL01312|6|17922014|I->N|0.97|Probably damaging|MGI:1927450|St7|suppression of tumorigenicity 7 [Source:MGI Symbol;Acc:MGI:1927450]|Heterozygous||T|A|42|37.0|Non-synonymous|Alive, Line Propagating
6513658|IGL01312|6|28434470|I->T|0.98|Probably damaging|MGI:1890386|Fscn3|fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) [Source:MGI Symbol;Acc:MGI:1890386]|Heterozygous||T|C|39|34.0|Non-synonymous|Alive, Line Propagating
6513659|IGL01312|10|41451889|I->S|0.01|Benign|MGI:3039618|Zbtb24|zinc finger and BTB domain containing 24 [Source:MGI Symbol;Acc:MGI:3039618]|Heterozygous||T|G|33|37.0|Non-synonymous|Alive, Line Propagating
6513660|IGL01312|13|41103131|T->A|0.99|Probably damaging|MGI:1861438|Gcm2|glial cells missing homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1861438]|Heterozygous|Homozygous null mice lack parathyroid glands and exhibit hypocalcemia, hypophosphatemia, a mild abnormal bone phenotype, and partial perinatal lethality. Hypoparathyroidism is observed although parathyroid hormone serum levels are normal.|T|C|32|37.5|Non-synonymous|Alive, Line Propagating
6513661|IGL01312|12|9008655|T->M|1.0|Probably damaging|MGI:1921932|Wdr35|WD repeat domain 35 [Source:MGI Symbol;Acc:MGI:1921932]|Heterozygous||C|T|31|39.0|Non-synonymous|Alive, Line Propagating
6513662|IGL01312|8|47505677|A->S||Benign|MGI:2444585|Trappc11|trafficking protein particle complex 11 [Source:MGI Symbol;Acc:MGI:2444585]|Heterozygous||C|A|29|36.0|Non-synonymous|Alive, Line Propagating
6513663|IGL01312|10|25441587|M->V|0.96|Probably damaging|MGI:103009|Epb4.1l2|erythrocyte protein band 4.1-like 2 [Source:MGI Symbol;Acc:MGI:103009]|Heterozygous|Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile.|A|G|27|38.0|Non-synonymous|Alive, Line Propagating
6513664|IGL01312|7|34256508|D->E|0.29|Benign|MGI:1924311|4931406p16rik|RIKEN cDNA 4931406P16 gene [Source:MGI Symbol;Acc:MGI:1924311]|Heterozygous||A|T|26|37.5|Non-synonymous|Alive, Line Propagating
6513665|IGL01312|7|83633189|P->L|1.0|Probably damaging|MGI:2156765|Stard5|StAR-related lipid transfer (START) domain containing 5 [Source:MGI Symbol;Acc:MGI:2156765]|Heterozygous||C|T|24|39.0|Non-synonymous|Alive, Line Propagating
6513666|IGL01312|13|46686824|T->A|0.01|Benign|MGI:2385621|Nup153|nucleoporin 153 [Source:MGI Symbol;Acc:MGI:2385621]|Heterozygous||T|C|20|36.0|Non-synonymous|Alive, Line Propagating
6513667|IGL01312|5|110234352|V->L||Benign|MGI:1261856|Ankle2|ankyrin repeat and LEM domain containing 2 [Source:MGI Symbol;Acc:MGI:1261856]|Heterozygous||G|T|20|40.0|Non-synonymous|Alive, Line Propagating
6513669|IGL01312|10|20436194|Disrupted splicing|||MGI:1352752|Pde7b|phosphodiesterase 7B [Source:MGI Symbol;Acc:MGI:1352752]|Heterozygous||A|G|51|37.0|Splice|Alive, Line Propagating
6513670|IGL01312|17|57225993|Disrupted splicing|||MGI:88227|C3|complement component 3 [Source:MGI Symbol;Acc:MGI:88227]|Heterozygous|Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.|G|A|38|38.0|Splice|Alive, Line Propagating
6514284|IGL01313|4|113805164|I->F|0.87|Possibly damaging|MGI:3650151|Skint5|selection and upkeep of intraepithelial T cells 5 [Source:MGI Symbol;Acc:MGI:3650151]|Heterozygous||T|A|283|39.0|Non-synonymous|Alive, Line Propagating
6514285|IGL01313|1|164193612|V->L|0.06|Benign|MGI:88382|F5|coagulation factor V [Source:MGI Symbol;Acc:MGI:88382]|Heterozygous||G|T|252|38.0|Non-synonymous|Alive, Line Propagating
6514286|IGL01313|1|133071631|Q->Stop||N/A|MGI:2685045|Pik3c2b|phosphoinositide-3-kinase, class 2, beta polypeptide [Source:MGI Symbol;Acc:MGI:2685045]|Heterozygous||C|T|224|38.0|Non-synonymous|Alive, Line Propagating
6514287|IGL01313|10|84725743|I->N|1.0|Probably damaging|MGI:1917678|Polr3b|polymerase (RNA) III (DNA directed) polypeptide B [Source:MGI Symbol;Acc:MGI:1917678]|Heterozygous||T|A|125|38.0|Non-synonymous|Alive, Line Propagating
6514288|IGL01313|17|20550157|R->K|||MGI:3646711|Vmn2r109|vomeronasal 2, receptor 109 [Source:MGI Symbol;Acc:MGI:3646711]|Heterozygous||C|T|124|40.5|Non-synonymous|Alive, Line Propagating
6514289|IGL01313|3|39007201|I->T|0.86|Possibly damaging|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||T|C|124|38.0|Non-synonymous|Alive, Line Propagating
6514290|IGL01313|3|90386554|T->K|||MGI:1347358|Slc27a3|solute carrier family 27 (fatty acid transporter), member 3 [Source:MGI Symbol;Acc:MGI:1347358]|Heterozygous||G|T|124|39.0|Non-synonymous|Alive, Line Propagating
6514291|IGL01313|15|82761277|S->G|0.18|Benign|MGI:1919004|Cyp2d40|cytochrome P450, family 2, subfamily d, polypeptide 40 [Source:MGI Symbol;Acc:MGI:1919004]|Heterozygous||T|C|115|39.0|Non-synonymous|Alive, Line Propagating
6514292|IGL01313|8|61982526|H->Q|0.99|Probably damaging|MGI:2384570|Ddx60|DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 [Source:MGI Symbol;Acc:MGI:2384570]|Heterozygous||T|A|114|37.0|Non-synonymous|Alive, Line Propagating
6514293|IGL01313|X|41827346|V->D|0.02|Benign|MGI:2442413|Thoc2|THO complex 2 [Source:MGI Symbol;Acc:MGI:2442413]|Heterozygous||A|T|102|38.0|Non-synonymous|Alive, Line Propagating
6514294|IGL01313|11|36024248|V->A|0.99|Probably damaging|MGI:1345184|Tenm2|teneurin transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1345184]|Heterozygous||A|G|91|37.0|Non-synonymous|Alive, Line Propagating
6514295|IGL01313|10|129767595|Y->C|1.0|Probably damaging|MGI:3030642|Olfr808|olfactory receptor 808 [Source:MGI Symbol;Acc:MGI:3030642]|Heterozygous||A|G|90|39.0|Non-synonymous|Alive, Line Propagating
6514296|IGL01313|10|33200220|P->Q|1.0|Probably damaging|MGI:1924007|Trdn|triadin [Source:MGI Symbol;Acc:MGI:1924007]|Heterozygous|Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells.|C|A|87|41.0|Non-synonymous|Alive, Line Propagating
6514297|IGL01313|19|29321553|S->I|0.42|Benign|MGI:1351595|Insl6|insulin-like 6 [Source:MGI Symbol;Acc:MGI:1351595]|Heterozygous|Mice homozygous for a knock-out allele exhibit male infertility associated with male germ cell apoptosis and reduced sperm motility.|C|A|83|39.0|Non-synonymous|Alive, Line Propagating
6514298|IGL01313|2|104907627|M->L||Benign|MGI:3606488|Ccdc73|coiled-coil domain containing 73 [Source:MGI Symbol;Acc:MGI:3606488]|Heterozygous||A|T|77|39.0|Non-synonymous|Alive, Line Propagating
6514299|IGL01313|17|52834680|Y->C|||MGI:2445160|Kcnh8|potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:MGI Symbol;Acc:MGI:2445160]|Heterozygous||A|G|75|40.0|Non-synonymous|Alive, Line Propagating
6514300|IGL01313|X|78737848|R->L|||MGI:1918114|Fam47c|family with sequence similarity 47, member C [Source:MGI Symbol;Acc:MGI:1918114]|Heterozygous||G|T|74|37.0|Non-synonymous|Alive, Line Propagating
6514301|IGL01313|5|134915260|S->G|0.95|Possibly damaging|MGI:1913102|Cldn13|claudin 13 [Source:MGI Symbol;Acc:MGI:1913102]|Heterozygous||T|C|69|38.0|Non-synonymous|Alive, Line Propagating
6514302|IGL01313|13|96088289|V->M|1.0|Probably damaging|MGI:1922459|Sv2c|synaptic vesicle glycoprotein 2c [Source:MGI Symbol;Acc:MGI:1922459]|Heterozygous||C|T|66|37.0|Non-synonymous|Alive, Line Propagating
6514303|IGL01313|7|18264633|I->T|0.08|Benign|MGI:2179988|Mill1|MHC I like leukocyte 1 [Source:MGI Symbol;Acc:MGI:2179988]|Heterozygous||T|C|66|39.0|Non-synonymous|Alive, Line Propagating
6514304|IGL01313|1|20201024|G->C|1.0|Probably damaging|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|C|A|61|39.0|Non-synonymous|Alive, Line Propagating
6514305|IGL01313|11|116151081|V->A|0.01|Benign|MGI:1922033|Fbf1|Fas (TNFRSF6) binding factor 1 [Source:MGI Symbol;Acc:MGI:1922033]|Heterozygous||A|G|52|37.0|Non-synonymous|Alive, Line Propagating
6514306|IGL01313|18|22517459|E->V||Benign|MGI:2685175|Asxl3|additional sex combs like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685175]|Heterozygous||A|T|49|39.0|Non-synonymous|Alive, Line Propagating
6514307|IGL01313|17|65948704|C->F|1.0|Probably damaging|MGI:2137520|Twsg1|twisted gastrulation homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2137520]|Heterozygous|Homozygous null mice appear healthy at birth, but more than half of the progeny fail to thrive and exhibit dwarfism with delayed ossification and immune system. These defects result in premature death.|C|A|47|39.0|Non-synonymous|Alive, Line Propagating
6514308|IGL01313|2|58315974|Q->H|0.01|Benign|MGI:2661081|Acvr1c|activin A receptor, type IC [Source:MGI Symbol;Acc:MGI:2661081]|Heterozygous|Homozygous null mice display normal growth, gut, skeleton, spleen, and cerebellum morphology, glucose and insulin levels, and left-right patterning.|T|G|47|40.0|Non-synonymous|Alive, Line Propagating
6514309|IGL01313|12|8000898|N->Y|1.0|Probably damaging|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|A|T|46|40.0|Non-synonymous|Alive, Line Propagating
6514310|IGL01313|15|66380513|S->T||Benign|MGI:1859553|Lrrc6|leucine rich repeat containing 6 (testis) [Source:MGI Symbol;Acc:MGI:1859553]|Heterozygous||A|T|46|39.0|Non-synonymous|Alive, Line Propagating
6514311|IGL01313|18|9987158|I->F||Benign|MGI:1919668|Thoc1|THO complex 1 [Source:MGI Symbol;Acc:MGI:1919668]|Heterozygous|Mutations in this gene result in embryonic lethality around implantation in homozygotes.|A|T|45|40.0|Non-synonymous|Alive, Line Propagating
6514312|IGL01313|8|69139107|V->L|1.0|Probably damaging|MGI:2684762|Lzts1|leucine zipper, putative tumor suppressor 1 [Source:MGI Symbol;Acc:MGI:2684762]|Heterozygous||C|A|43|38.0|Non-synonymous|Alive, Line Propagating
6514313|IGL01313|11|23473206|I->N|0.02|Benign|MGI:109473|Usp34|ubiquitin specific peptidase 34 [Source:MGI Symbol;Acc:MGI:109473]|Heterozygous||T|A|40|39.0|Non-synonymous|Alive, Line Propagating
6514314|IGL01313|1|69539430|K->E|0.53|Possibly damaging|MGI:1342541|Ikzf2|IKAROS family zinc finger 2 [Source:MGI Symbol;Acc:MGI:1342541]|Heterozygous|Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain.|T|C|35|37.0|Non-synonymous|Alive, Line Propagating
6514315|IGL01313|17|20278389|Q->L|0.86|Possibly damaging|MGI:3647787|Vmn2r106|vomeronasal 2, receptor 106 [Source:MGI Symbol;Acc:MGI:3647787]|Heterozygous||T|A|33|38.0|Non-synonymous|Alive, Line Propagating
6514316|IGL01313|11|94509319|M->R|0.33|Benign|MGI:2388726|Mycbpap|MYCBP associated protein [Source:MGI Symbol;Acc:MGI:2388726]|Heterozygous||A|C|32|37.5|Non-synonymous|Alive, Line Propagating
6514317|IGL01313|5|21774976|N->S|0.46|Possibly damaging|MGI:99470|Dnajc2|DnaJ (Hsp40) homolog, subfamily C, member 2 [Source:MGI Symbol;Acc:MGI:99470]|Heterozygous||T|C|32|40.0|Non-synonymous|Alive, Line Propagating
6514318|IGL01313|14|52210575|L->F|1.0|Probably damaging|MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|C|A|21|40.0|Non-synonymous|Alive, Line Propagating
6514319|IGL01313|9|114631855|N->K||Benign|MGI:1926143|Cnot10|CCR4-NOT transcription complex, subunit 10 [Source:MGI Symbol;Acc:MGI:1926143]|Heterozygous||A|T|21|41.0|Non-synonymous|Alive, Line Propagating
6514320|IGL01313|15|54459761|V->M|0.2|Benign|MGI:3606482|Colec10|collectin sub-family member 10 [Source:MGI Symbol;Acc:MGI:3606482]|Heterozygous||G|A|20|36.0|Non-synonymous|Alive, Line Propagating
6514321|IGL01313|12|112735652|R->H|1.0|Probably damaging|MGI:2145043|Aw555464|expressed sequence AW555464 [Source:MGI Symbol;Acc:MGI:2145043]|Heterozygous||G|A|15|34.0|Non-synonymous|Alive, Line Propagating
6514322|IGL01313|2|157116401|I->T|||MGI:1927468|Samhd1|SAM domain and HD domain, 1 [Source:MGI Symbol;Acc:MGI:1927468]|Heterozygous||A|G|15|39.0|Non-synonymous|Alive, Line Propagating
6514323|IGL01313|18|25020720|E->K|0.42|Benign|MGI:1925847|Fhod3|formin homology 2 domain containing 3 [Source:MGI Symbol;Acc:MGI:1925847]|Heterozygous||G|A|13|39.0|Non-synonymous|Alive, Line Propagating
6514325|IGL01313|13|11638485|Disrupted splicing|||MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|T|A|75|40.0|Splice|Alive, Line Propagating
6514326|IGL01313|10|80003123|Disrupted splicing|||MGI:1351646|Abca7|ATP-binding cassette, sub-family A (ABC1), member 7 [Source:MGI Symbol;Acc:MGI:1351646]|Heterozygous|Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size.|T|A|62|36.5|Splice|Alive, Line Propagating
6514327|IGL01313|6|121645010|Disrupted splicing|||MGI:2449119|A2m|alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]|Heterozygous||T|C|48|40.0|Splice|Alive, Line Propagating
6514328|IGL01313|8|54585763|Disrupted splicing|||MGI:1923544|Asb5|ankyrin repeat and SOCs box-containing 5 [Source:MGI Symbol;Acc:MGI:1923544]|Heterozygous||A|T|47|40.0|Splice|Alive, Line Propagating
6514329|IGL01313|12|17270541|Disrupted splicing|||MGI:1919103|Pdia6|protein disulfide isomerase associated 6 [Source:MGI Symbol;Acc:MGI:1919103]|Heterozygous||T|A|42|37.0|Splice|Alive, Line Propagating
6514920|IGL01314|17|18582964|T->A||Benign|MGI:3644514|Vmn2r96|vomeronasal 2, receptor 96 [Source:MGI Symbol;Acc:MGI:3644514]|Heterozygous||A|G|199|39.0|Non-synonymous|Alive
6514921|IGL01314|4|118869131|V->I|||MGI:3031165|Olfr1331|olfactory receptor 1331 [Source:MGI Symbol;Acc:MGI:3031165]|Heterozygous||G|A|141|40.0|Non-synonymous|Alive
6514922|IGL01314|3|100473174|K->E|1.0|Probably damaging|MGI:1921895|Fam46c|family with sequence similarity 46, member C [Source:MGI Symbol;Acc:MGI:1921895]|Heterozygous||T|C|115|36.0|Non-synonymous|Alive
6514923|IGL01314|3|139050561|L->P|1.0|Probably damaging|MGI:2385189|Rap1gds1|RAP1, GTP-GDP dissociation stimulator 1 [Source:MGI Symbol;Acc:MGI:2385189]|Heterozygous||A|G|107|40.0|Non-synonymous|Alive
6514924|IGL01314|6|122081279|F->L|0.85|Possibly damaging|MGI:99836|Mug2|murinoglobulin 2 [Source:MGI Symbol;Acc:MGI:99836]|Heterozygous||T|C|65|40.0|Non-synonymous|Alive
6514925|IGL01314|18|42573309|A->D|1.0|Probably damaging|MGI:1926421|Tcerg1|transcription elongation regulator 1 (CA150) [Source:MGI Symbol;Acc:MGI:1926421]|Heterozygous||C|A|64|39.0|Non-synonymous|Alive
6514926|IGL01314|10|99129641|T->I|1.0|Probably damaging|MGI:1918511|Poc1b|POC1 centriolar protein homolog B (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1918511]|Heterozygous||C|T|58|39.0|Non-synonymous|Alive
6514927|IGL01314|5|34878856|D->G|||MGI:96285|Htt|huntingtin [Source:MGI Symbol;Acc:MGI:96067]|Heterozygous|Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.|A|G|58|37.0|Non-synonymous|Alive
6514928|IGL01314|1|134541449|T->A|1.0|Probably damaging|MGI:1918251|4931440l10rik|RIKEN cDNA 4931440L10 gene [Source:MGI Symbol;Acc:MGI:1918251]|Heterozygous||T|C|55|39.0|Non-synonymous|Alive
6514929|IGL01314|7|98593455|V->A||Benign|MGI:1924203|2210018m11rik|RIKEN cDNA 2210018M11 gene [Source:MGI Symbol;Acc:MGI:1924203]|Heterozygous||A|G|52|37.0|Non-synonymous|Alive
6514930|IGL01314|9|106834191|I->T||Benign|MGI:2445220|Vprbp|Vpr (HIV-1) binding protein [Source:MGI Symbol;Acc:MGI:2445220]|Heterozygous|Embryos homozygous for a knock-out allele die prior to E7.5.|T|C|52|38.0|Non-synonymous|Alive
6514931|IGL01314|5|65615294|V->A||Benign|MGI:1918771|Pds5a|PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918771]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development.|A|G|44|38.5|Non-synonymous|Alive
6514932|IGL01314|9|113906127|D->G|0.6|Possibly damaging|MGI:1923749|Clasp2|CLIP associating protein 2 [Source:MGI Symbol;Acc:MGI:1923749]|Heterozygous|Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.|A|G|41|39.0|Non-synonymous|Alive
6514933|IGL01314|6|86457855|F->S|1.0|Probably damaging|MGI:2141787|C87436|expressed sequence C87436 [Source:MGI Symbol;Acc:MGI:2141787]|Heterozygous||T|C|38|40.0|Non-synonymous|Alive
6514934|IGL01314|1|87683750|S->Stop||N/A|MGI:107357|Inpp5d|inositol polyphosphate-5-phosphatase D [Source:MGI Symbol;Acc:MGI:107357]|Heterozygous|Homozygous null mice fail to reject fully mismatched allogeneic marrow grafts, do not develop graft versus host disease, and show enhanced survival after such transplants. Homozygous splice site mutants exhibit wasting, granulocytic lung infiltration and defective cytolysis by NK cells and CTLs.|C|A|36|39.0|Non-synonymous|Alive
6514935|IGL01314|4|123486720|S->P|||MGI:108559|Macf1|microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]|Heterozygous|Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.|A|G|36|35.0|Non-synonymous|Alive
6514936|IGL01314|1|144171441|D->A||Benign|MGI:2180585|Rgs13|regulator of G-protein signaling 13 [Source:MGI Symbol;Acc:MGI:2180585]|Heterozygous|Mice homozygous for a null allele exhibit increased mast cell degranulation and increased anaphylaxis.|T|G|35|39.0|Non-synonymous|Alive
6514937|IGL01314|11|107054853|V->E|0.98|Probably damaging|MGI:2444008|Bptf|bromodomain PHD finger transcription factor [Source:MGI Symbol;Acc:MGI:2444008]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone.|A|T|35|36.0|Non-synonymous|Alive
6514938|IGL01314|15|97748223|F->S|1.0|Probably damaging|MGI:2441741|Rapgef3|Rap guanine nucleotide exchange factor (GEF) 3 [Source:MGI Symbol;Acc:MGI:2441741]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis.|A|G|35|39.0|Non-synonymous|Alive
6514939|IGL01314|3|87870080|N->Y|0.98|Probably damaging|MGI:2137738|Prcc|papillary renal cell carcinoma (translocation-associated) [Source:MGI Symbol;Acc:MGI:2137738]|Heterozygous||T|A|35|39.0|Non-synonymous|Alive
6514940|IGL01314|3|108279795|V->M|0.6|Possibly damaging|MGI:1347009|Psma5|proteasome (prosome, macropain) subunit, alpha type 5 [Source:MGI Symbol;Acc:MGI:1347009]|Heterozygous||G|A|34|39.0|Non-synonymous|Alive
6514941|IGL01314|1|74428238|D->N|1.0|Probably damaging|MGI:98930|Vil1|villin 1 [Source:MGI Symbol;Acc:MGI:98930]|Heterozygous|Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed.|G|A|33|37.0|Non-synonymous|Alive
6514942|IGL01314|9|57141819|H->L|0.01|Benign|MGI:1920994|Man2c1|mannosidase, alpha, class 2C, member 1 [Source:MGI Symbol;Acc:MGI:1920994]|Heterozygous||A|T|32|38.5|Non-synonymous|Alive
6514943|IGL01314|13|25102604|L->P|1.0|Probably damaging|MGI:2652818|Dcdc2a|doublecortin domain containing 2a [Source:MGI Symbol;Acc:MGI:2652818]|Heterozygous||T|C|31|39.0|Non-synonymous|Alive
6514944|IGL01314|8|120753380|Y->C|1.0|Probably damaging|MGI:5141853, MGI:96395|Irf8,gm20388|interferon regulatory factor 8 [Source:MGI Symbol;Acc:MGI:96395],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous|NO_PHENOTYPE,Homozygotes for a targeted null mutation exhibit increased incidence of viral infections, shortened life span, deregulated hematopoiesis, and hematological neoplasias. Heterozygotes show similar, but milder, phenotypes.|A|G|31|37.0|Non-synonymous|Alive
6514945|IGL01314|15|11071853|A->V|0.01|Benign|MGI:2146046|Adamts12|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12 [Source:MGI Symbol;Acc:MGI:2146046]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis.|C|T|30|36.5|Non-synonymous|Alive
6514946|IGL01314|8|106010580|F->S|0.36|Benign|MGI:1919236|Ddx28|DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 [Source:MGI Symbol;Acc:MGI:1919236]|Heterozygous||A|G|25|37.0|Non-synonymous|Alive
6514947|IGL01314|4|15005079|E->D|0.96|Probably damaging|MGI:1916602|Necab1|N-terminal EF-hand calcium binding protein 1 [Source:MGI Symbol;Acc:MGI:1916602]|Heterozygous||T|A|23|39.0|Non-synonymous|Alive
6514948|IGL01314|11|115790009|H->N|0.98|Probably damaging|MGI:1919197|2310067b10rik|RIKEN cDNA 2310067B10 gene [Source:MGI Symbol;Acc:MGI:1919197]|Heterozygous||C|A|21|37.0|Non-synonymous|Alive
6514949|IGL01314|15|47849755|Y->H|1.0|Probably damaging|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||A|G|21|40.0|Non-synonymous|Alive
6514950|IGL01314|3|5413094|S->T|0.99|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||T|A|17|40.0|Non-synonymous|Alive
6514951|IGL01314|7|17747256|Y->Stop||N/A|MGI:1920500|Ceacam5|carcinoembryonic antigen-related cell adhesion molecule 5 [Source:MGI Symbol;Acc:MGI:1920500]|Heterozygous||T|A|15|40.0|Non-synonymous|Alive
6514952|IGL01314|3|129686260|I->T|0.01|Benign|MGI:95290|Egf|epidermal growth factor [Source:MGI Symbol;Acc:MGI:95290]|Heterozygous|Null mutants have normal phenotype. Females triply null, for this locus and the amphiregulin and transforming growth factor alpha genes, are unable to nurse due to impaired mammary gland development and show mild integument and digestive system anomalies.|A|G|14|36.5|Non-synonymous|Alive
6514953|IGL01314|3|88332576|I->V|0.23|Benign|MGI:1919163|Tmem79|transmembrane protein 79 [Source:MGI Symbol;Acc:MGI:1919163]|Heterozygous||T|C|13|35.0|Non-synonymous|Alive
6514954|IGL01314|10|100573611|D->E|0.98|Probably damaging|MGI:1921197|4930430f08rik|RIKEN cDNA 4930430F08 gene [Source:MGI Symbol;Acc:MGI:1921197]|Heterozygous||A|C|10|41.0|Non-synonymous|Alive
6514956|IGL01314|7|44211176|Disrupted splicing|||MGI:97320|Klk1b4|kallikrein 1-related pepidase b4 [Source:MGI Symbol;Acc:MGI:97320]|Heterozygous||T|C|40|39.0|Splice|Alive
6514957|IGL01314|19|5989984|Disrupted splicing|||MGI:88263|Capn1|calpain 1 [Source:MGI Symbol;Acc:MGI:88263]|Heterozygous|Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type.|T|C|16|35.0|Splice|Alive
6514958|IGL01314|13|55007063|Disrupted splicing|||MGI:2670962|Hk3|hexokinase 3 [Source:MGI Symbol;Acc:MGI:2670962]|Heterozygous||C|A|13|39.0|Splice|Alive
6515581|IGL01315|9|65508702|H->L|||MGI:2686319|Ankdd1a|ankyrin repeat and death domain containing 1A [Source:MGI Symbol;Acc:MGI:2686319]|Heterozygous||T|A|115|37.0|Non-synonymous|Alive
6515582|IGL01315|19|23231604|T->S||Benign|MGI:2385088|Smc5|structural maintenance of chromosomes 5 [Source:MGI Symbol;Acc:MGI:2385088]|Heterozygous||T|A|100|37.0|Non-synonymous|Alive
6515583|IGL01315|12|81314395|V->A|0.51|Possibly damaging|MGI:107976|Slc8a3|solute carrier family 8 (sodium/calcium exchanger), member 3 [Source:MGI Symbol;Acc:MGI:107976]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|87|39.0|Non-synonymous|Alive
6515584|IGL01315|7|44916289|D->E|0.99|Probably damaging|MGI:101921|Ap2a1|adaptor protein complex AP-2, alpha 1 subunit [Source:MGI Symbol;Acc:MGI:101921]|Heterozygous||A|T|84|39.0|Non-synonymous|Alive
6515585|IGL01315|11|116923389|S->P|1.0|Probably damaging|MGI:3606200|Mgat5b|mannoside acetylglucosaminyltransferase 5, isoenzyme B [Source:MGI Symbol;Acc:MGI:3606200]|Heterozygous||T|C|59|37.0|Non-synonymous|Alive
6515586|IGL01315|4|62455837|V->G|1.0|Probably damaging|MGI:1918604|Wdr31|WD repeat domain 31 [Source:MGI Symbol;Acc:MGI:1918604]|Heterozygous||A|C|57|38.0|Non-synonymous|Alive
6515587|IGL01315|5|138276039|S->P||Benign|MGI:1919201|Gpc2|glypican 2 (cerebroglycan) [Source:MGI Symbol;Acc:MGI:1919201]|Heterozygous||A|G|46|37.0|Non-synonymous|Alive
6515588|IGL01315|1|60281341|V->A|0.99|Probably damaging|MGI:2444343|Nbeal1|neurobeachin like 1 [Source:MGI Symbol;Acc:MGI:2444343]|Heterozygous||T|C|44|39.5|Non-synonymous|Alive
6515589|IGL01315|12|113271352|H->L|1.0|Probably damaging|MGI:2685746|Ighe|Immunoglobulin heavy constant epsilon [Source:MGI Symbol;Acc:MGI:2685746]|Heterozygous||T|A|43|40.0|Non-synonymous|Alive
6515590|IGL01315|15|54749260|S->P|1.0|Probably damaging|MGI:109185|Nov|nephroblastoma overexpressed gene [Source:MGI Symbol;Acc:MGI:109185]|Heterozygous|Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects.|T|C|42|38.0|Non-synonymous|Alive
6515591|IGL01315|1|77398557|V->A||Benign|MGI:98277|Epha4|Eph receptor A4 [Source:MGI Symbol;Acc:MGI:98277]|Heterozygous|Mutants are known for their hopping gait. Homozygotes for targeted null mutations show loss of limb alternation in locomotion and axon guidance defects of the corticospinal tract within medulla and spinal cord, resulting in aberrant midline projections. Heterozygotes show less severe phenotype.|A|G|40|38.5|Non-synonymous|Alive
6515592|IGL01315|14|51895136|E->Stop||N/A|MGI:2684326|Slc39a2|solute carrier family 39 (zinc transporter), member 2 [Source:MGI Symbol;Acc:MGI:2684326]|Heterozygous||G|T|40|35.5|Non-synonymous|Alive
6515593|IGL01315|7|31142568|F->L|0.8|Possibly damaging|MGI:105490|Gramd1a|GRAM domain containing 1A [Source:MGI Symbol;Acc:MGI:105490]|Heterozygous||A|G|39|37.0|Non-synonymous|Alive
6515594|IGL01315|19|44192196|D->N||Benign|MGI:1352448|Pkd2l1|polycystic kidney disease 2-like 1 [Source:MGI Symbol;Acc:MGI:1352448]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.|C|T|36|38.0|Non-synonymous|Alive
6515595|IGL01315|15|51842485|D->G|1.0|Probably damaging|MGI:1915385|Eif3h|eukaryotic translation initiation factor 3, subunit H [Source:MGI Symbol;Acc:MGI:1915385]|Heterozygous||T|C|34|39.0|Non-synonymous|Alive
6515596|IGL01315|12|103088521|I->T|0.92|Possibly damaging|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|C|33|40.0|Non-synonymous|Alive
6515597|IGL01315|3|117662526|C->F|0.88|Possibly damaging|MGI:1923019|4833424o15rik|RIKEN cDNA 4833424O15 gene [Source:MGI Symbol;Acc:MGI:1923019]|Heterozygous||G|T|33|39.0|Non-synonymous|Alive
6515598|IGL01315|8|105472998|R->S|0.01|Benign|MGI:1918046|Zdhhc1|zinc finger, DHHC domain containing 1 [Source:MGI Symbol;Acc:MGI:1918046]|Heterozygous||C|A|31|35.0|Non-synonymous|Alive
6515599|IGL01315|3|104795945|V->A|0.87|Possibly damaging|MGI:97054|Mov10|Moloney leukemia virus 10 [Source:MGI Symbol;Acc:MGI:97054]|Heterozygous||A|G|27|37.0|Non-synonymous|Alive
6515600|IGL01315|1|188633614|P->S|0.18|Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|C|T|24|33.5|Non-synonymous|Alive
6515601|IGL01315|5|30893234|S->P||Benign|MGI:2441745|Agbl5|ATP/GTP binding protein-like 5 [Source:MGI Symbol;Acc:MGI:2441745]|Heterozygous||T|C|22|38.0|Non-synonymous|Alive
6515602|IGL01315|2|24019168|Y->H||Benign|MGI:2153181|Hnmt|histamine N-methyltransferase [Source:MGI Symbol;Acc:MGI:2153181]|Heterozygous||A|G|20|40.0|Non-synonymous|Alive
6515603|IGL01315|9|29014184|S->C|0.95|Possibly damaging|MGI:2446259|Ntm|neurotrimin [Source:MGI Symbol;Acc:MGI:2446259]|Heterozygous||T|A|20|35.0|Non-synonymous|Alive
6515604|IGL01315|5|3609975|D->V|1.0|Probably damaging|MGI:1918632|Pex1|peroxisomal biogenesis factor 1 [Source:MGI Symbol;Acc:MGI:1918632]|Heterozygous||A|T|19|40.0|Non-synonymous|Alive
6515605|IGL01315|19|17451958|T->I|1.0|Probably damaging|MGI:97515|Pcsk5|proprotein convertase subtilisin/kexin type 5 [Source:MGI Symbol;Acc:MGI:97515]|Heterozygous|Mice homozygous for a mutation in this gene display embryonic lethality between E4.5-E7.5.|G|A|18|38.5|Non-synonymous|Alive
6515606|IGL01315|15|11389734|Y->Stop||N/A|MGI:106314|Tars|threonyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:106314]|Heterozygous||A|C|14|38.5|Non-synonymous|Alive
6515607|IGL01315|13|75762232|Disrupted splicing|||MGI:2183438|Ell2|elongation factor RNA polymerase II 2 [Source:MGI Symbol;Acc:MGI:2183438]|Heterozygous||A|G|53|36.0|Splice|Alive
6515608|IGL01315|12|31760986|Disrupted splicing|||MGI:2145130|Cog5|component of oligomeric golgi complex 5 [Source:MGI Symbol;Acc:MGI:2145130]|Heterozygous||T|A|30|40.5|Splice|Alive
6515609|IGL01315|15|101486967|Disrupted splicing|||MGI:3690448|5430421n21rik|RIKEN cDNA 5430421N21 gene [Source:MGI Symbol;Acc:MGI:3690448]|Heterozygous||A|G|16|34.0|Splice|Alive
6516190|IGL01316|8|72389414|F->L|1.0|Probably damaging|MGI:104582|Eps15l1|epidermal growth factor receptor pathway substrate 15-like 1 [Source:MGI Symbol;Acc:MGI:104582]|Heterozygous||A|T|170|38.0|Non-synonymous|Alive, Line Propagating
6516191|IGL01316|17|38208497|N->S|0.79|Possibly damaging|MGI:2177518|Olfr135|olfactory receptor 135 [Source:MGI Symbol;Acc:MGI:2177518]|Heterozygous||A|G|158|37.0|Non-synonymous|Alive, Line Propagating
6516192|IGL01316|4|155221686|A->T|0.99|Probably damaging|MGI:98310|Ski|ski sarcoma viral oncogene homolog (avian) [Source:MGI Symbol;Acc:MGI:98310]|Heterozygous|Homozygous null embryos die during late gestation and exhibit neural tube defects, craniofacial anomalies, and reduced skeletal muscle mass. Haploinsufficient mice have an increased susceptibility to tumorigenesis.|C|T|147|37.0|Non-synonymous|Alive, Line Propagating
6516193|IGL01316|5|145855151|K->N|1.0|Probably damaging|MGI:88609|Cyp3a11|cytochrome P450, family 3, subfamily a, polypeptide 11 [Source:MGI Symbol;Acc:MGI:88609]|Heterozygous||T|A|105|40.0|Non-synonymous|Alive, Line Propagating
6516194|IGL01316|13|51654516|S->P||Benign|MGI:1922670|Secisbp2|SECIS binding protein 2 [Source:MGI Symbol;Acc:MGI:1922670]|Heterozygous||T|C|102|40.0|Non-synonymous|Alive, Line Propagating
6516195|IGL01316|9|19121422|I->V||Benign|MGI:3030670|Olfr836|olfactory receptor 836 [Source:MGI Symbol;Acc:MGI:3030670]|Heterozygous||A|G|98|39.0|Non-synonymous|Alive, Line Propagating
6516196|IGL01316|15|101811211|R->G||Unknown|MGI:96699|Krt2|keratin 2 [Source:MGI Symbol;Acc:MGI:96699]|Heterozygous|Mutant animals exhibit scaly skin and pigmentation defects affecting the tail, ears and feet.|T|C|83|38.0|Non-synonymous|Alive, Line Propagating
6516197|IGL01316|2|25086011|D->G|1.0|Probably damaging|MGI:2449980|Noxa1|NADPH oxidase activator 1 [Source:MGI Symbol;Acc:MGI:2449980]|Heterozygous|Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities.|T|C|82|37.0|Non-synonymous|Alive, Line Propagating
6516198|IGL01316|11|113867965|T->A|0.67|Possibly damaging|MGI:2443847|Sdk2|sidekick homolog 2 (chicken) [Source:MGI Symbol;Acc:MGI:2443847]|Heterozygous||T|C|66|35.0|Non-synonymous|Alive, Line Propagating
6516199|IGL01316|11|53465558|A->V|0.31|Benign|MGI:1919024|Shroom1|shroom family member 1 [Source:MGI Symbol;Acc:MGI:1919024]|Heterozygous||C|T|65|38.0|Non-synonymous|Alive, Line Propagating
6516200|IGL01316|3|106572980|V->E|0.8|Possibly damaging|MGI:1914421|Dram2|DNA-damage regulated autophagy modulator 2 [Source:MGI Symbol;Acc:MGI:1914421]|Heterozygous||T|A|61|39.0|Non-synonymous|Alive, Line Propagating
6516201|IGL01316|12|16698586|H->L||Benign|MGI:2149712|Greb1|gene regulated by estrogen in breast cancer protein [Source:MGI Symbol;Acc:MGI:2149712]|Heterozygous||T|A|60|37.0|Non-synonymous|Alive, Line Propagating
6516202|IGL01316|10|7924704|V->A|0.99|Probably damaging|MGI:1915902|Tab2|TGF-beta activated kinase 1/MAP3K7 binding protein 2 [Source:MGI Symbol;Acc:MGI:1915902]|Heterozygous|Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5.|A|G|46|40.0|Non-synonymous|Alive, Line Propagating
6516203|IGL01316|6|40582262|T->A||Benign|MGI:1345151|Clec5a|C-type lectin domain family 5, member a [Source:MGI Symbol;Acc:MGI:1345151]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased susceptibility to induced arthritis.|T|C|42|37.0|Non-synonymous|Alive, Line Propagating
6516204|IGL01316|11|66925946|S->P|0.98|Probably damaging|MGI:2443635|Pirt|phosphoinositide-interacting regulator of transient receptor potential channels [Source:MGI Symbol;Acc:MGI:2443635]|Heterozygous|Mice homozygous for a null allele exhibit decreased sensitivity to thermal and capsaicin nociception.|T|C|38|39.0|Non-synonymous|Alive, Line Propagating
6516205|IGL01316|5|118762781|V->D|||MGI:2670178|Med13l|mediator complex subunit 13-like [Source:MGI Symbol;Acc:MGI:2670178]|Heterozygous||T|A|34|37.0|Non-synonymous|Alive, Line Propagating
6516206|IGL01316|3|152247233|F->L||Benign|MGI:1916060|Nexn|nexilin [Source:MGI Symbol;Acc:MGI:1916060]|Heterozygous||A|T|27|39.0|Non-synonymous|Alive, Line Propagating
6516207|IGL01316|2|168269040|N->S|1.0|Probably damaging|MGI:3616086|Kcng1|potassium voltage-gated channel, subfamily G, member 1 [Source:MGI Symbol;Acc:MGI:3616086]|Heterozygous||T|C|26|35.0|Non-synonymous|Alive, Line Propagating
6516208|IGL01316|19|56813413|C->G|0.01|Benign|MGI:2445022|A630007b06rik|RIKEN cDNA A630007B06 gene [Source:MGI Symbol;Acc:MGI:2445022]|Heterozygous||A|C|23|39.0|Non-synonymous|Alive, Line Propagating
6516209|IGL01316|7|90452719|P->S|1.0|Probably damaging|MGI:1913521|Tmem126a|transmembrane protein 126A [Source:MGI Symbol;Acc:MGI:1913521]|Heterozygous||G|A|20|40.0|Non-synonymous|Alive, Line Propagating
6516210|IGL01316|3|106571634|Y->H|0.2|Benign|MGI:1914421|Dram2|DNA-damage regulated autophagy modulator 2 [Source:MGI Symbol;Acc:MGI:1914421]|Heterozygous||T|C|17|39.0|Non-synonymous|Alive, Line Propagating
6516211|IGL01316|3|122141755|V->A|0.85|Possibly damaging|MGI:109424|Abca4|ATP-binding cassette, sub-family A (ABC1), member 4 [Source:MGI Symbol;Acc:MGI:109424]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration.|T|C|16|38.0|Non-synonymous|Alive, Line Propagating
6516212|IGL01316|6|90598380|D->G|1.0|Probably damaging|MGI:1340024|Aldh1l1|aldehyde dehydrogenase 1 family, member L1 [Source:MGI Symbol;Acc:MGI:1340024]|Heterozygous||A|G|16|38.0|Non-synonymous|Alive, Line Propagating
6516213|IGL01316|2|69674724|D->G|0.43|Possibly damaging|MGI:2680359, MGI:2683854, MGI:3043439, MGI:3040308, MGI:3526912, MGI:3042882, MGI:3042881, MGI:3042411, MGI:3512161, MGI:3526911, MGI:2687239, MGI:3040352, MGI:3042875, MGI:1345664, MGI:3622822, MGI:3526909, MGI:3526910|Kbtbd10|kelch repeat and BTB (POZ) domain containing 10 [Source:MGI Symbol;Acc:MGI:2683854]|Heterozygous||A|G|14|39.0|Non-synonymous|Alive, Line Propagating
6516214|IGL01316|1|136118964|V->A|||MGI:88294|Cacna1s|calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:MGI Symbol;Acc:MGI:88294]|Heterozygous|Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.|T|C|13|39.0|Non-synonymous|Alive, Line Propagating
6516216|IGL01316|10|52087879|Disrupted splicing|||MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|A|G|106|37.0|Splice|Alive, Line Propagating
6516217|IGL01316|7|128690706|Disrupted splicing|||MGI:2141867|Inpp5f|inositol polyphosphate-5-phosphatase F [Source:MGI Symbol;Acc:MGI:2141867]|Heterozygous|Mice homozygous for a gene trap allele exhibit increased isoproterenol-induced cardiac hypertrophy.|G|A|67|37.0|Splice|Alive, Line Propagating
6516218|IGL01316|3|63340159|Disrupted splicing|||MGI:97004|Mme|membrane metallo endopeptidase [Source:MGI Symbol;Acc:MGI:97004]|Heterozygous||T|A|39|36.0|Splice|Alive, Line Propagating
6516219|IGL01316|1|180592935|Disrupted splicing|||MGI:1340806|Parp1|poly (ADP-ribose) polymerase family, member 1 [Source:MGI Symbol;Acc:MGI:1340806]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are grossly phenotypically normal. Depending on the allele, homozygotes may display epidermal hyperplasia, obesity, extreme sensitivity to radiation and alkylating agents.|A|G|27|35.0|Splice|Alive, Line Propagating
6516220|IGL01316|2|4981231|Disrupted splicing|||MGI:1915777|Ucma|upper zone of growth plate and cartilage matrix associated [Source:MGI Symbol;Acc:MGI:1915777]|Heterozygous||T|C|16|38.0|Splice|Alive, Line Propagating
6516221|IGL01316|9|49420484|Disrupted splicing|||MGI:3045301|Ankk1|ankyrin repeat and kinase domain containing 1 [Source:MGI Symbol;Acc:MGI:3045301]|Heterozygous||A|G|10|38.5|Splice|Alive, Line Propagating
6516842|IGL01317|13|89691668|M->T||Benign|MGI:102889|Vcan|versican [Source:MGI Symbol;Acc:MGI:102889]|Heterozygous|Homozygotes for an insertional mutation exhibit anterior-posterior segmental defects of the heart, lack endocardial cushions of the conus and atrioventricular region, and die and around embryonic day 10.5.|A|G|135|39.0|Non-synonymous|Alive, Line Propagating
6516843|IGL01317|3|85672846|D->G||Unknown|MGI:2444746|Fam160a1|family with sequence similarity 160, member A1 [Source:MGI Symbol;Acc:MGI:2444746]|Heterozygous||T|C|93|37.0|Non-synonymous|Alive, Line Propagating
6516844|IGL01317|19|3918104|I->V||Benign|MGI:1914939|Aldh3b1|aldehyde dehydrogenase 3 family, member B1 [Source:MGI Symbol;Acc:MGI:1914939]|Heterozygous||T|C|85|37.0|Non-synonymous|Alive, Line Propagating
6516845|IGL01317|5|115908716|V->D|0.01|Benign|MGI:105313|Cit|citron [Source:MGI Symbol;Acc:MGI:105313]|Heterozygous|Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors.|T|A|79|36.0|Non-synonymous|Alive, Line Propagating
6516846|IGL01317|8|24872581|D->E|0.9|Possibly damaging|MGI:2653822|Adam32|a disintegrin and metallopeptidase domain 32 [Source:MGI Symbol;Acc:MGI:2653822]|Heterozygous||A|T|77|40.0|Non-synonymous|Alive, Line Propagating
6516847|IGL01317|12|112737644|Y->C|1.0|Probably damaging|MGI:2145043|Aw555464|expressed sequence AW555464 [Source:MGI Symbol;Acc:MGI:2145043]|Heterozygous||A|G|69|37.0|Non-synonymous|Alive, Line Propagating
6516848|IGL01317|8|91100057|D->E|1.0|Probably damaging|MGI:105085|Rbl2|retinoblastoma-like 2 [Source:MGI Symbol;Acc:MGI:105085]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested embryonic growth and varying disorganization in neural and dermamyotome structures, with death by embryonic day 11-13. On a different background mutants were viable and fertile.|C|A|67|40.0|Non-synonymous|Alive, Line Propagating
6516849|IGL01317|9|72618536|G->S|||MGI:2442675|Rfx7|regulatory factor X, 7 [Source:MGI Symbol;Acc:MGI:2442675]|Heterozygous||G|A|64|39.0|Non-synonymous|Alive, Line Propagating
6516850|IGL01317|2|3202626|V->E|0.38|Benign|MGI:2442917|Fam171a1|family with sequence similarity 171, member A1 [Source:MGI Symbol;Acc:MGI:2442917]|Heterozygous||T|A|63|37.0|Non-synonymous|Alive, Line Propagating
6516851|IGL01317|2|104786979|Y->D|0.82|Possibly damaging|MGI:2138986|Qser1|glutamine and serine rich 1 [Source:MGI Symbol;Acc:MGI:2138986]|Heterozygous||A|C|59|38.0|Non-synonymous|Alive, Line Propagating
6516852|IGL01317|X|13522260|E->K|0.5|Possibly damaging|MGI:1309489|Cask|calcium/calmodulin-dependent serine protein kinase (MAGUK family) [Source:MGI Symbol;Acc:MGI:1309489]|Heterozygous|Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout.|C|T|56|40.0|Non-synonymous|Alive, Line Propagating
6516853|IGL01317|7|131041191|D->E||Unknown|MGI:106210|Dmbt1|deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]|Heterozygous|Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.|T|A|53|39.0|Non-synonymous|Alive, Line Propagating
6516854|IGL01317|6|128367353|M->K|0.27|Benign|MGI:1347487|Foxm1|forkhead box M1 [Source:MGI Symbol;Acc:MGI:1347487]|Heterozygous||T|A|50|37.0|Non-synonymous|Alive, Line Propagating
6516855|IGL01317|10|89620804|L->F|0.04|Benign|MGI:3039629|Slc17a8|solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 [Source:MGI Symbol;Acc:MGI:3039629]|Heterozygous||T|A|46|39.0|Non-synonymous|Alive, Line Propagating
6516856|IGL01317|14|54435790|T->A|0.28|Benign|MGI:101900|Mmp14|matrix metallopeptidase 14 (membrane-inserted) [Source:MGI Symbol;Acc:MGI:101900]|Heterozygous|Homozygous null mice exhibit craniofacial dysmorphism, arthritis, osteopenia, dwarfism, fibrosis of soft tissue, reduced bone formation, pulmonary hypoplasia, and impaired alveologenesis.|A|G|44|32.5|Non-synonymous|Alive, Line Propagating
6516857|IGL01317|2|111960275|H->L|0.25|Benign|MGI:3031142|Olfr1308|olfactory receptor 1308 [Source:MGI Symbol;Acc:MGI:3031142]|Heterozygous||T|A|42|40.0|Non-synonymous|Alive, Line Propagating
6516858|IGL01317|17|26125515|G->D|1.0|Probably damaging|MGI:1915861|Mrpl28|mitochondrial ribosomal protein L28 [Source:MGI Symbol;Acc:MGI:1915861]|Heterozygous||G|A|40|35.0|Non-synonymous|Alive, Line Propagating
6516859|IGL01317|8|110326446|D->V|0.99|Probably damaging|MGI:2389007|Hydin|HYDIN, axonemal central pair apparatus protein [Source:MGI Symbol;Acc:MGI:2389007]|Heterozygous|Mice homozygous for a mutation in this gene develop hydrocephaly after birth. Symptoms develop after 3-5 days. Affected animals usually die before 2 months of age.|A|T|40|37.0|Non-synonymous|Alive, Line Propagating
6516860|IGL01317|9|32256964|K->E|0.45|Possibly damaging|MGI:2450166|Arhgap32|Rho GTPase activating protein 32 [Source:MGI Symbol;Acc:MGI:2450166]|Heterozygous|Mice homozygous for a null mutation are fertile but display abnormal neurite growth.|A|G|39|39.0|Non-synonymous|Alive, Line Propagating
6516861|IGL01317|7|47335624|N->K|||MGI:3033095|Mrgpra1|MAS-related GPR, member A1 [Source:MGI Symbol;Acc:MGI:3033095]|Heterozygous||A|T|37|40.0|Non-synonymous|Alive, Line Propagating
6516862|IGL01317|3|129822425|F->V||Unknown|MGI:1097709|Rrh|retinal pigment epithelium derived rhodopsin homolog [Source:MGI Symbol;Acc:MGI:1097709]|Heterozygous||A|C|32|36.0|Non-synonymous|Alive, Line Propagating
6516863|IGL01317|7|97998258|M->L|0.97|Probably damaging|MGI:3606573|Gdpd4|glycerophosphodiester phosphodiesterase domain containing 4 [Source:MGI Symbol;Acc:MGI:3606573]|Heterozygous||A|C|32|40.0|Non-synonymous|Alive, Line Propagating
6516864|IGL01317|6|55967805|A->S|0.11|Benign|MGI:2685304|Ccdc129|coiled-coil domain containing 129 [Source:MGI Symbol;Acc:MGI:2685304]|Heterozygous||G|T|31|39.0|Non-synonymous|Alive, Line Propagating
6516865|IGL01317|2|180671757|N->K|0.07|Benign|MGI:1344352|Dido1|death inducer-obliterator 1 [Source:MGI Symbol;Acc:MGI:1344352]|Heterozygous|Mice homozygous for a knock-out allele exhibit severely reduced fertility; about one-half develop a transplantable disease characterized by anomalies in spleen, bone marrow, and peripheral blood and including anemia and various symptoms typical of myeloid dysplasia or myeloid proliferation.|A|C|30|40.0|Non-synonymous|Alive, Line Propagating
6516866|IGL01317|10|122449567|S->P||Benign|MGI:1859216|Avpr1a|arginine vasopressin receptor 1A [Source:MGI Symbol;Acc:MGI:1859216]|Heterozygous|Mice homozygous for disruptions in this gene display a stimulus processing deficit similar to that seen in schizophrenia. Anxiety-like behaviors are reduced in males but not females. B cell development is also affected.|T|C|28|36.5|Non-synonymous|Alive, Line Propagating
6516867|IGL01317|11|69353211|Y->H|1.0|Probably damaging|MGI:1344395|Chd3|chromodomain helicase DNA binding protein 3 [Source:MGI Symbol;Acc:MGI:1344395]|Heterozygous||A|G|28|37.5|Non-synonymous|Alive, Line Propagating
6516868|IGL01317|15|89285928|V->E|||MGI:1918724|Ppp6r2|protein phosphatase 6, regulatory subunit 2 [Source:MGI Symbol;Acc:MGI:1918724]|Heterozygous||T|A|28|32.0|Non-synonymous|Alive, Line Propagating
6516869|IGL01317|6|23314173|D->V|0.56|Possibly damaging|MGI:2443963|Cadps2|Ca2+-dependent activator protein for secretion 2 [Source:MGI Symbol;Acc:MGI:2443963]|Heterozygous|Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior.|T|A|28|40.0|Non-synonymous|Alive, Line Propagating
6516870|IGL01317|6|21727340|Stop->Q||N/A|MGI:102663|Kcnd2|potassium voltage-gated channel, Shal-related family, member 2 [Source:MGI Symbol;Acc:MGI:102663]|Heterozygous|Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli.|T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6516871|IGL01317|13|12399027|W->R|||MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||T|A|26|40.0|Non-synonymous|Alive, Line Propagating
6516872|IGL01317|13|13670870|Q->R|||MGI:107448|Lyst|lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]|Heterozygous|Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells.|A|G|26|38.0|Non-synonymous|Alive, Line Propagating
6516873|IGL01317|5|104174048|Y->N|0.96|Probably damaging|MGI:109172|Dspp|dentin sialophosphoprotein [Source:MGI Symbol;Acc:MGI:109172]|Heterozygous|Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors.|T|A|26|40.0|Non-synonymous|Alive, Line Propagating
6516874|IGL01317|11|78347226|C->S|1.0|Probably damaging|MGI:1328357|Unc119|unc-119 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:1328357]|Heterozygous|Mice homozygous for a null allele exhibit retinal degeneration characterized by thinning of the outer nuclear layer of the retinal that is visible at 6 months and progresses rapidly after 17 to end-stage by 26 months.|T|A|25|37.0|Non-synonymous|Alive, Line Propagating
6516875|IGL01317|3|121171633|I->T||Unknown|MGI:1920420|Rwdd3|RWD domain containing 3 [Source:MGI Symbol;Acc:MGI:1920420]|Heterozygous||A|G|25|30.0|Non-synonymous|Alive, Line Propagating
6516876|IGL01317|5|142705530|D->G||Benign|MGI:2385330|Slc29a4|solute carrier family 29 (nucleoside transporters), member 4 [Source:MGI Symbol;Acc:MGI:2385330]|Heterozygous||A|G|25|35.0|Non-synonymous|Alive, Line Propagating
6516877|IGL01317|11|75180660|H->R|0.19|Benign|MGI:2151233|Dph1|DPH1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2151233]|Heterozygous|Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected.|T|C|24|37.0|Non-synonymous|Alive, Line Propagating
6516878|IGL01317|2|79322661|C->Stop||N/A|MGI:96603|Itga4|integrin alpha 4 [Source:MGI Symbol;Acc:MGI:96603]|Heterozygous|Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation.|T|A|21|40.0|Non-synonymous|Alive, Line Propagating
6516879|IGL01317|4|144195267|N->S|0.06|Benign|MGI:2684035|Oog2|oogenesin 2 [Source:MGI Symbol;Acc:MGI:2684035]|Heterozygous||A|G|21|40.0|Non-synonymous|Alive, Line Propagating
6516880|IGL01317|8|23902169|T->K||Benign|MGI:2443497|Zmat4|zinc finger, matrin type 4 [Source:MGI Symbol;Acc:MGI:2443497]|Heterozygous||C|A|21|39.0|Non-synonymous|Alive, Line Propagating
6516881|IGL01317|9|24769755|V->A|1.0|Probably damaging|MGI:1888496|Tbx20|T-box 20 [Source:MGI Symbol;Acc:MGI:1888496]|Heterozygous|Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation.|A|G|20|37.5|Non-synonymous|Alive, Line Propagating
6516882|IGL01317|2|66188356|M->L||Benign|MGI:1920918|Ttc21b|tetratricopeptide repeat domain 21B [Source:MGI Symbol;Acc:MGI:1920918]|Heterozygous|Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure.|T|A|18|38.5|Non-synonymous|Alive, Line Propagating
6516883|IGL01317|11|4212826|Y->F|0.06|Benign|MGI:2144164|Tbc1d10a|TBC1 domain family, member 10a [Source:MGI Symbol;Acc:MGI:2144164]|Heterozygous||A|T|16|38.0|Non-synonymous|Alive, Line Propagating
6516884|IGL01317|17|67818701|E->V|||MGI:99892|Lama1|laminin, alpha 1 [Source:MGI Symbol;Acc:MGI:99892]|Heterozygous|Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane.|A|T|16|38.0|Non-synonymous|Alive, Line Propagating
6516885|IGL01317|9|99696082|T->A||Benign|MGI:1929209|Cldn18|claudin 18 [Source:MGI Symbol;Acc:MGI:1929209]|Heterozygous||T|C|16|37.0|Non-synonymous|Alive, Line Propagating
6516886|IGL01317|2|77192545|M->K|0.82|Possibly damaging|MGI:1916262|Sestd1|SEC14 and spectrin domains 1 [Source:MGI Symbol;Acc:MGI:1916262]|Heterozygous||A|T|15|39.0|Non-synonymous|Alive, Line Propagating
6516887|IGL01317|10|105413785|R->L|0.98|Probably damaging|MGI:1914057|Tmtc2|transmembrane and tetratricopeptide repeat containing 2 [Source:MGI Symbol;Acc:MGI:1914057]|Heterozygous||C|A|14|38.0|Non-synonymous|Alive, Line Propagating
6516888|IGL01317|9|108086207|S->R||Benign|MGI:88041|Apeh|acylpeptide hydrolase [Source:MGI Symbol;Acc:MGI:88041]|Heterozygous||A|T|11|40.0|Non-synonymous|Alive, Line Propagating
6516889|IGL01317|11|87602404|Disrupted splicing|||MGI:2180699|Mtmr4|myotubularin related protein 4 [Source:MGI Symbol;Acc:MGI:2180699]|Heterozygous||T|C|41|37.0|Splice|Alive, Line Propagating
6516890|IGL01317|X|17204959|Disrupted splicing|||MGI:1921655|Efhc2|EF-hand domain (C-terminal) containing 2 [Source:MGI Symbol;Acc:MGI:1921655]|Heterozygous||C|T|26|40.0|Splice|Alive, Line Propagating
6516891|IGL01317|12|34429489|Disrupted splicing|||MGI:1931221|Hdac9|histone deacetylase 9 [Source:MGI Symbol;Acc:MGI:1931221]|Heterozygous|Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy.|T|C|22|39.0|Splice|Alive, Line Propagating
6516892|IGL01317|12|87071996|Disrupted splicing|||MGI:2444386|Tmem63c|transmembrane protein 63c [Source:MGI Symbol;Acc:MGI:2444386]|Heterozygous||A|T|19|38.0|Splice|Alive, Line Propagating
6516893|IGL01317|18|45560627|Disrupted splicing|||MGI:2153182|Kcnn2|potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 [Source:MGI Symbol;Acc:MGI:2153182]|Heterozygous|Mice homozygous for a point mutation exhibit tremor and gait abnormalities. Homozygous null mice lack the apamin sensitive component of the medium afterhyperpolarization current but have normal hippocampal morphology.|A|G|10|34.0|Splice|Alive, Line Propagating
6517518|IGL01318|2|86922949|N->K||Benign|MGI:3030932|Olfr1098|olfactory receptor 1098 [Source:MGI Symbol;Acc:MGI:3030932]|Heterozygous||A|T|77|36.0|Non-synonymous|Alive, Line Propagating
6517519|IGL01318|17|22958335|I->V||Benign|MGI:3648972|Vmn2r113|vomeronasal 2, receptor 113 [Source:MGI Symbol;Acc:MGI:3648972]|Heterozygous||A|G|66|40.0|Non-synonymous|Alive, Line Propagating
6517520|IGL01318|17|65864282|R->L|1.0|Probably damaging|MGI:108466|Ralbp1|ralA binding protein 1 [Source:MGI Symbol;Acc:MGI:108466]|Heterozygous|Homozygous and heterozygous null mice display increased sensitivity to X-ray irradiation, increased oxidative stress, and impaired glutathione homeostasis.|C|A|65|38.0|Non-synonymous|Alive, Line Propagating
6517521|IGL01318|13|3575067|S->A|0.04|Benign|MGI:2145274|Bc016423|cDNA sequence BC016423 [Source:MGI Symbol;Acc:MGI:2145274]|Heterozygous||A|C|62|40.0|Non-synonymous|Alive, Line Propagating
6517522|IGL01318|7|86165566|I->V|||MGI:3648311|Vmn2r75|vomeronasal 2, receptor 75 [Source:MGI Symbol;Acc:MGI:3648311]|Heterozygous||T|C|57|40.0|Non-synonymous|Alive, Line Propagating
6517523|IGL01318|6|83118577|V->F|1.0|Probably damaging|MGI:1929872|Mogs|mannosyl-oligosaccharide glucosidase [Source:MGI Symbol;Acc:MGI:1929872]|Heterozygous||G|T|53|38.0|Non-synonymous|Alive, Line Propagating
6517524|IGL01318|2|35336877|I->F|0.04|Benign|MGI:95403|Stom|stomatin [Source:MGI Symbol;Acc:MGI:95403]|Heterozygous|Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal.|T|A|48|35.0|Non-synonymous|Alive, Line Propagating
6517525|IGL01318|18|15062690|V->A|0.38|Benign|MGI:1918269|Kctd1|potassium channel tetramerisation domain containing 1 [Source:MGI Symbol;Acc:MGI:1918269]|Heterozygous||A|G|44|37.0|Non-synonymous|Alive, Line Propagating
6517526|IGL01318|19|24816478|A->E|1.0|Probably damaging|MGI:1925668|Pgm5|phosphoglucomutase 5 [Source:MGI Symbol;Acc:MGI:1925668]|Heterozygous||G|T|38|37.0|Non-synonymous|Alive, Line Propagating
6517527|IGL01318|13|113108240|V->E|1.0|Probably damaging|MGI:3642450|Gm9848|predicted gene 9848 [Source:MGI Symbol;Acc:MGI:3642450]|Heterozygous||T|A|35|39.0|Non-synonymous|Alive, Line Propagating
6517528|IGL01318|1|75509928|F->C|1.0|Probably damaging|MGI:96569|Inha|inhibin alpha [Source:MGI Symbol;Acc:MGI:96569]|Heterozygous|Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors.|T|G|33|39.0|Non-synonymous|Alive, Line Propagating
6517529|IGL01318|4|141015545|A->S|0.88|Possibly damaging|MGI:99559|Mfap2|microfibrillar-associated protein 2 [Source:MGI Symbol;Acc:MGI:99559]|Heterozygous|Mice homozygous for a knock-out allele display a decreased platelet number, delayed thrombotic occlusion following carotid artery injury, and prolonged bleeding from a tail vein incision.|G|T|32|38.5|Non-synonymous|Alive, Line Propagating
6517530|IGL01318|5|27842744|V->A|0.26|Benign|MGI:96283|Htr5a|5-hydroxytryptamine (serotonin) receptor 5A [Source:MGI Symbol;Acc:MGI:96283]|Heterozygous|The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD.|T|C|30|36.5|Non-synonymous|Alive, Line Propagating
6517531|IGL01318|8|54672550|T->A|||MGI:1924662|Wdr17|WD repeat domain 17 [Source:MGI Symbol;Acc:MGI:1924662]|Heterozygous||T|C|29|40.0|Non-synonymous|Alive, Line Propagating
6517532|IGL01318|19|12920126|L->P|1.0|Probably damaging|MGI:3031282|Olfr1448|olfactory receptor 1448 [Source:MGI Symbol;Acc:MGI:3031282]|Heterozygous||A|G|28|37.0|Non-synonymous|Alive, Line Propagating
6517533|IGL01318|3|107037978|V->A|0.1|Benign|MGI:96660|Kcna3|potassium voltage-gated channel, shaker-related subfamily, member 3 [Source:MGI Symbol;Acc:MGI:96660]|Heterozygous|Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism.|T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6517534|IGL01318|14|45616551|S->P|||MGI:2150302|Ddhd1|DDHD domain containing 1 [Source:MGI Symbol;Acc:MGI:2150302]|Heterozygous||A|G|26|41.0|Non-synonymous|Alive, Line Propagating
6517535|IGL01318|12|34985378|N->I|0.25|Benign|MGI:1922706|Prps1l1|phosphoribosyl pyrophosphate synthetase 1-like 1 [Source:MGI Symbol;Acc:MGI:1922706]|Heterozygous||A|T|23|39.0|Non-synonymous|Alive, Line Propagating
6517536|IGL01318|4|141859865|N->S||Benign|MGI:106504|Efhd2|EF hand domain containing 2 [Source:MGI Symbol;Acc:MGI:106504]|Heterozygous||T|C|23|37.0|Non-synonymous|Alive, Line Propagating
6517537|IGL01318|1|150719240|T->I|0.03|Benign|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||G|A|21|40.0|Non-synonymous|Alive, Line Propagating
6517538|IGL01318|13|58237039|I->K|1.0|Probably damaging|MGI:1891694|Gkap1|G kinase anchoring protein 1 [Source:MGI Symbol;Acc:MGI:1891694]|Heterozygous||A|T|21|37.0|Non-synonymous|Alive, Line Propagating
6517539|IGL01318|9|19920758|E->G|0.58|Possibly damaging|MGI:2153206|Olfr77|olfactory receptor 77 [Source:MGI Symbol;Acc:MGI:2153206]|Heterozygous||A|G|21|38.0|Non-synonymous|Alive, Line Propagating
6517540|IGL01318|12|21247295|D->G||Benign|MGI:2685438|Asap2|ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:2685438]|Heterozygous||A|G|19|40.0|Non-synonymous|Alive, Line Propagating
6517541|IGL01318|1|188814353|I->T||Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|T|C|18|39.0|Non-synonymous|Alive, Line Propagating
6517542|IGL01318|11|106765245|A->T||Benign|MGI:2685731|Gm885|predicted gene 885 [Source:MGI Symbol;Acc:MGI:2685731]|Heterozygous||G|A|18|40.5|Non-synonymous|Alive, Line Propagating
6517543|IGL01318|X|58919469|I->N|0.99|Probably damaging|MGI:1922602|4930550l24rik|RIKEN cDNA 4930550L24 gene [Source:MGI Symbol;Acc:MGI:1922602]|Heterozygous||T|A|18|35.5|Non-synonymous|Alive, Line Propagating
6517544|IGL01318|9|115232122|W->Stop||N/A|MGI:1921736|Osbpl10|oxysterol binding protein-like 10 [Source:MGI Symbol;Acc:MGI:1921736]|Heterozygous||G|A|17|37.0|Non-synonymous|Alive, Line Propagating
6517545|IGL01318|13|30540921|I->T|0.1|Benign|MGI:1913944|Uqcrfs1|ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [Source:MGI Symbol;Acc:MGI:1913944]|Heterozygous|Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey.|A|G|14|40.0|Non-synonymous|Alive, Line Propagating
6517546|IGL01318|2|129038702|V->L|0.35|Benign|MGI:3649276|Gm14025|predicted gene 14025 [Source:MGI Symbol;Acc:MGI:3649276]|Heterozygous||C|A|14|38.5|Non-synonymous|Alive, Line Propagating
6517547|IGL01318|7|46665238|T->P|0.43|Benign|MGI:98796|Tph1|tryptophan hydroxylase 1 [Source:MGI Symbol;Acc:MGI:98796]|Heterozygous|Mice homozygous for one null allele display no gross behavioral abnormalities. Mice homozygous for a second null allele display fatigue, breathing difficulties, progressive pallor, and impaired cardiac function.|T|G|14|38.5|Non-synonymous|Alive, Line Propagating
6517548|IGL01318|10|86825225|M->K|0.37|Benign|MGI:3513266|Nt5dc3|5'-nucleotidase domain containing 3 [Source:MGI Symbol;Acc:MGI:3513266]|Heterozygous||T|A|13|39.0|Non-synonymous|Alive, Line Propagating
6517549|IGL01318|5|110265525|Y->H|1.0|Probably damaging|MGI:1919792|Pgam5|phosphoglycerate mutase family member 5 [Source:MGI Symbol;Acc:MGI:1919792]|Heterozygous||A|G|13|38.0|Non-synonymous|Alive, Line Propagating
6517550|IGL01318|17|46302464|E->G|1.0|Probably damaging|MGI:2146838|Dlk2|delta-like 2 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2146838]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive, Line Propagating
6517551|IGL01318|2|120698719|H->L|||MGI:3045258|Stard9|START domain containing 9 [Source:MGI Symbol;Acc:MGI:3045258]|Heterozygous||A|T|10|39.0|Non-synonymous|Alive, Line Propagating
6517552|IGL01318|8|84965123|Disrupted splicing|||MGI:1916974|Rnaseh2a|ribonuclease H2, large subunit [Source:MGI Symbol;Acc:MGI:1916974]|Heterozygous||C|T|42|39.5|Splice|Alive, Line Propagating
6517553|IGL01318|17|56059336|Disrupted splicing|||MGI:1351331|Chaf1a|chromatin assembly factor 1, subunit A (p150) [Source:MGI Symbol;Acc:MGI:1351331]|Heterozygous|Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.|G|T|29|37.0|Splice|Alive, Line Propagating
6517554|IGL01318|5|88460695|Disrupted splicing|||MGI:104655|Ambn|ameloblastin [Source:MGI Symbol;Acc:MGI:104655]|Heterozygous|Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors.|T|C|23|40.0|Splice|Alive, Line Propagating
6517555|IGL01318|14|23314322|Disrupted splicing|||MGI:99923|Kcnma1|potassium large conductance calcium-activated channel, subfamily M, alpha member 1 [Source:MGI Symbol;Acc:MGI:99923]|Heterozygous|Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment.|A|T|17|38.0|Splice|Alive, Line Propagating
6517556|IGL01318|11|65756263|Disrupted splicing|||MGI:1346869|Map2k4|mitogen-activated protein kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1346869]|Heterozygous|Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0.|A|G|16|39.0|Splice|Alive, Line Propagating
6517557|IGL01318|15|90228389|Disrupted splicing|||MGI:2146159|Alg10b|asparagine-linked glycosylation 10B (alpha-1,2-glucosyltransferase) [Source:MGI Symbol;Acc:MGI:2146159]|Heterozygous||T|C|11|40.0|Splice|Alive, Line Propagating
6517558|IGL01318|2|166569340|Disrupted splicing|||MGI:3040696|Prex1|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 [Source:MGI Symbol;Acc:MGI:3040696]|Heterozygous||C|A|11|40.0|Splice|Alive, Line Propagating
6518178|IGL01319|13|8985260|N->K|0.24|Benign|MGI:1916487|Gtpbp4|GTP binding protein 4 [Source:MGI Symbol;Acc:MGI:1916487]|Heterozygous||A|T|129|39.0|Non-synonymous|Alive
6518179|IGL01319|11|34698790|V->A|0.32|Benign|MGI:2149010|Dock2|dedicator of cyto-kinesis 2 [Source:MGI Symbol;Acc:MGI:2149010]|Heterozygous|Homozygous mutants are defective in the migration of T and B lympohcytes in response to chemokines, and thus display immune defects such as lymphocytopenia, atrophy of lymphoid follicles and loss of marginal-zone B cells.|A|G|115|36.0|Non-synonymous|Alive
6518180|IGL01319|18|37308513|V->A||Benign|MGI:2136738|Pcdhb4|protocadherin beta 4 [Source:MGI Symbol;Acc:MGI:2136738]|Heterozygous||T|C|88|40.0|Non-synonymous|Alive
6518182|IGL01319|6|68152404|L->P|||MGI:2680928, MGI:3624752, MGI:3526935, MGI:3526936, MGI:3045410, MGI:3525629, MGI:3589938, MGI:3526937, MGI:3526938, MGI:3647785|Ac140374.2||Heterozygous||T|C|85|39.0|Non-synonymous|Alive
6518183|IGL01319|9|106719046|G->D|0.07|Benign|MGI:1933196|Rad54l2|RAD54 like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1933196]|Heterozygous|Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis.|C|T|83|39.0|Non-synonymous|Alive
6518184|IGL01319|7|43465254|S->L|0.98|Probably damaging|MGI:1922940|Vsig10l|ZV-set and immunoglobulin domain containing 10 like [Source:MGI Symbol;Acc:MGI:1922940]|Heterozygous||C|T|82|35.0|Non-synonymous|Alive
6518185|IGL01319|6|113584899|T->K|0.56|Possibly damaging|MGI:2448480|Fancd2|Fanconi anemia, complementation group D2 [Source:MGI Symbol;Acc:MGI:2448480]|Heterozygous|Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.|C|A|70|38.0|Non-synonymous|Alive
6518186|IGL01319|2|76881304|T->A||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|66|38.0|Non-synonymous|Alive
6518187|IGL01319|6|129116585|P->L|||MGI:3624540|Klrb1-ps1|killer cell lectin-like receptor subfamily B member 1, pseudogene 1 [Source:MGI Symbol;Acc:MGI:3624540]|Heterozygous||C|T|62|36.5|Non-synonymous|Alive
6518188|IGL01319|1|79810694|V->A|0.96|Probably damaging|MGI:101780|Serpine2|serine (or cysteine) peptidase inhibitor, clade E, member 2 [Source:MGI Symbol;Acc:MGI:101780]|Heterozygous|Mice homozygous for a targeted mutation of this gene are viable and healthy but develop epileptic activity as well as reduced theta burst-induced LTP and NMDA receptor-mediated synaptic transmission in the CA1 field of the hippocampus; notably, homozygous mutant males are infertile.|A|G|57|38.0|Non-synonymous|Alive
6518189|IGL01319|11|5143859|C->Y|1.0|Probably damaging|MGI:2155091|Emid1|EMI domain containing 1 [Source:MGI Symbol;Acc:MGI:2155091]|Heterozygous||C|T|55|37.0|Non-synonymous|Alive
6518191|IGL01319|7|80361132|V->M|0.22|Benign|MGI:2150656|Man2a2|mannosidase 2, alpha 2 [Source:MGI Symbol;Acc:MGI:2150656]|Heterozygous|Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis.|C|T|52|37.0|Non-synonymous|Alive
6518192|IGL01319|13|64787837|T->I|1.0|Probably damaging|MGI:3588199|Cntnap3|contactin associated protein-like 3 [Source:MGI Symbol;Acc:MGI:3588199]|Heterozygous||G|A|48|39.0|Non-synonymous|Alive
6518193|IGL01319|2|118614994|I->T|0.87|Possibly damaging|MGI:1333889|Bub1b|budding uninhibited by benzimidazoles 1 homolog, beta (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1333889]|Heterozygous|Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging.|T|C|43|37.0|Non-synonymous|Alive
6518194|IGL01319|14|60843271|M->L||Benign|MGI:1917728|Mipep|mitochondrial intermediate peptidase [Source:MGI Symbol;Acc:MGI:1917728]|Heterozygous||A|T|37|39.0|Non-synonymous|Alive
6518195|IGL01319|5|36947121|S->T|0.91|Possibly damaging|MGI:2442660|Ppp2r2c|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform [Source:MGI Symbol;Acc:MGI:2442660]|Heterozygous||T|A|37|38.0|Non-synonymous|Alive
6518196|IGL01319|1|139506793|N->S|||MGI:88379|F13b|coagulation factor XIII, beta subunit [Source:MGI Symbol;Acc:MGI:88379]|Heterozygous||A|G|35|40.0|Non-synonymous|Alive
6518197|IGL01319|6|39017973|I->V|0.03|Benign|MGI:98497|Tbxas1|thromboxane A synthase 1, platelet [Source:MGI Symbol;Acc:MGI:98497]|Heterozygous|Homozygous null mice display increased bleeding time and decreased platelet response to arachidonic acid.|A|G|35|40.0|Non-synonymous|Alive
6518198|IGL01319|13|76129379|H->R|||MGI:2679923|Ttc37|tetratricopeptide repeat domain 37 [Source:MGI Symbol;Acc:MGI:2679923]|Heterozygous||A|G|32|40.0|Non-synonymous|Alive
6518199|IGL01319|4|49649326|D->E|0.99|Probably damaging|MGI:1925927|Rnf20|ring finger protein 20 [Source:MGI Symbol;Acc:MGI:1925927]|Heterozygous||T|G|31|40.0|Non-synonymous|Alive
6518200|IGL01319|12|56330242|V->A|0.01|Benign|MGI:1918320|Mbip|MAP3K12 binding inhibitory protein 1 [Source:MGI Symbol;Acc:MGI:1918320]|Heterozygous||A|G|28|40.0|Non-synonymous|Alive
6518201|IGL01319|11|119891170|M->V||Benign|MGI:1921620|Rptor|regulatory associated protein of MTOR, complex 1 [Source:MGI Symbol;Acc:MGI:1921620]|Heterozygous|Homozygous mutation of this gene results in lethality prior to somitogenesis.|A|G|26|39.5|Non-synonymous|Alive
6518202|IGL01319|8|70097562|V->D|0.67|Possibly damaging|MGI:104694|Ncan|neurocan [Source:MGI Symbol;Acc:MGI:104694]|Heterozygous|Mice homozygous for targeted null mutations are viable and fertile and exhibit normal behavior and brain anatomy; however, mild defects in long term potentiation were noted.|A|T|25|37.0|Non-synonymous|Alive
6518203|IGL01319|X|103631000|Q->K|0.05|Benign|MGI:1922314|Zcchc13|zinc finger, CCHC domain containing 13 [Source:MGI Symbol;Acc:MGI:1922314]|Heterozygous||C|A|25|38.0|Non-synonymous|Alive
6518204|IGL01319|6|115576984|Q->L|1.0|Probably damaging|MGI:2141599|Tsen2|tRNA splicing endonuclease 2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2141599]|Heterozygous||A|T|24|39.0|Non-synonymous|Alive
6518205|IGL01319|7|44353123|A->E|0.96|Probably damaging|MGI:3613677|Shank1|SH3/ankyrin domain gene 1 [Source:MGI Symbol;Acc:MGI:3613677]|Heterozygous||C|A|20|37.0|Non-synonymous|Alive
6518206|IGL01319|19|21844757|P->L|1.0|Probably damaging|MGI:1890373|Tmem2|transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1890373]|Heterozygous||C|T|19|40.0|Non-synonymous|Alive
6518207|IGL01319|11|60364962|D->G|0.48|Possibly damaging|MGI:1921915|Lrrc48|leucine rich repeat containing 48 [Source:MGI Symbol;Acc:MGI:1921915]|Heterozygous||A|G|18|37.0|Non-synonymous|Alive
6518208|IGL01319|16|23028834|I->F|0.78|Possibly damaging|MGI:3027157|Kng2|kininogen 2 [Source:MGI Symbol;Acc:MGI:3027157]|Heterozygous||T|A|17|39.0|Non-synonymous|Alive
6518209|IGL01319|3|40933642|V->E||Benign|MGI:1915468|3110057o12rik|RIKEN cDNA 3110057O12 gene [Source:MGI Symbol;Acc:MGI:1915468]|Heterozygous||T|A|16|40.0|Non-synonymous|Alive
6518210|IGL01319|7|134789278|F->L|0.98|Probably damaging|MGI:2429765|Dock1|dedicator of cytokinesis 1 [Source:MGI Symbol;Acc:MGI:2429765]|Heterozygous|Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.|T|C|15|37.0|Non-synonymous|Alive
6518211|IGL01319|9|109278791|K->E|1.0|Probably damaging|MGI:1354703|Fbxw14|F-box and WD-40 domain protein 14 [Source:MGI Symbol;Acc:MGI:1354703]|Heterozygous||T|C|14|35.5|Non-synonymous|Alive
6518212|IGL01319|8|125087891|S->P|0.42|Benign|MGI:2447658|Disc1|disrupted in schizophrenia 1 [Source:MGI Symbol;Acc:MGI:2447658]|Heterozygous||T|C|12|39.0|Non-synonymous|Alive
6518213|IGL01319|2|127230127|Disrupted splicing|||MGI:2444401|Snrnp200|small nuclear ribonucleoprotein 200 (U5) [Source:MGI Symbol;Acc:MGI:2444401]|Heterozygous||T|C|73|37.0|Splice|Alive
6518214|IGL01319|2|111094805|Disrupted splicing|||MGI:3651375|Gm13941|predicted gene 13941 [Source:MGI Symbol;Acc:MGI:3651375]|Heterozygous||T|C|44|40.0|Splice|Alive
6518215|IGL01319|17|24587919|Disrupted splicing|||MGI:97603|Pkd1|polycystic kidney disease 1 homolog [Source:MGI Symbol;Acc:MGI:97603]|Heterozygous|Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.|T|C|37|40.0|Splice|Alive
6518216|IGL01319|8|43141397|Disrupted splicing|||MGI:2687279|Triml1|tripartite motif family-like 1 [Source:MGI Symbol;Acc:MGI:2687279]|Heterozygous||A|G|30|40.0|Splice|Alive
6518217|IGL01319|17|84705412|Disrupted splicing|||MGI:1919666|Lrpprc|leucine-rich PPR-motif containing [Source:MGI Symbol;Acc:MGI:1919666]|Heterozygous||T|C|25|37.0|Splice|Alive
6518218|IGL01319|4|132499967|Disrupted splicing|||MGI:2651874|Sesn2|sestrin 2 [Source:MGI Symbol;Acc:MGI:2651874]|Heterozygous|Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis.|C|T|24|38.0|Splice|Alive
6518219|IGL01319|15|10509406|Disrupted splicing|||MGI:1923027|Ttc23l|tetratricopeptide repeat domain 23-like [Source:MGI Symbol;Acc:MGI:1923027]|Heterozygous||A|G|18|41.0|Splice|Alive
6518220|IGL01319|6|35307353|Disrupted splicing|||MGI:2442367|Slc13a4|solute carrier family 13 (sodium/sulfate symporters), member 4 [Source:MGI Symbol;Acc:MGI:2442367]|Heterozygous||C|T|13|37.0|Splice|Alive
6518221|IGL01319|11|109678458|Disrupted splicing|||MGI:2388266|Fam20a|family with sequence similarity 20, member A [Source:MGI Symbol;Acc:MGI:2388266]|Heterozygous||A|G|11|37.0|Splice|Alive
6518855|IGL01320|2|87532285|M->K||Benign|MGI:1313138|Olfr153|olfactory receptor 153 [Source:MGI Symbol;Acc:MGI:1313138]|Heterozygous||T|A|245|40.0|Non-synonymous|Alive, Line Propagating
6518856|IGL01320|2|128831216|G->V|1.0|Probably damaging|MGI:1919727|Tmem87b|transmembrane protein 87B [Source:MGI Symbol;Acc:MGI:1919727]|Heterozygous||G|T|125|39.0|Non-synonymous|Alive, Line Propagating
6518859|IGL01320|14|53717108|S->P|||MGI:3702133|Trav7-6|T cell receptor alpha variable 7-6 [Source:MGI Symbol;Acc:MGI:3702133]|Heterozygous||T|C|74|39.0|Non-synonymous|Alive, Line Propagating
6518860|IGL01320|5|90260129|S->T|0.79|Possibly damaging|MGI:1932101|Ankrd17|ankyrin repeat domain 17 [Source:MGI Symbol;Acc:MGI:1932101]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis with hemorrhages, impaired vascular smooth muscle cell development, impaired vascualr integrity, and growth retardation.|A|T|69|40.0|Non-synonymous|Alive, Line Propagating
6518861|IGL01320|5|125109927|V->A||Unknown|MGI:1337080|Ncor2|nuclear receptor co-repressor 2 [Source:MGI Symbol;Acc:MGI:1337080]|Heterozygous|Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects.|A|G|56|37.0|Non-synonymous|Alive, Line Propagating
6518863|IGL01320|18|77254622|T->S|0.99|Probably damaging|MGI:109243|St8sia5|ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Source:MGI Symbol;Acc:MGI:109243]|Heterozygous||A|T|51|35.0|Non-synonymous|Alive, Line Propagating
6518866|IGL01320|15|98792523|D->E|0.5|Possibly damaging|MGI:98953|Wnt1|wingless-related MMTV integration site 1 [Source:MGI Symbol;Acc:MGI:98953]|Heterozygous|In mild form, homozygotes have ataxia and hypertonia, with malformation of anterior cerebellum, deep midline fissure, and impaired fertility. In the severe form, there is virtually no midbrain and cerebellum and mutants die within hours of birth.|C|A|36|35.0|Non-synonymous|Alive, Line Propagating
6518867|IGL01320|4|11384374|I->T|||MGI:1917326|Esrp1|epithelial splicing regulatory protein 1 [Source:MGI Symbol;Acc:MGI:1917326]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6518868|IGL01320|17|3505745|L->P|1.0|Probably damaging|MGI:1344338|Tiam2|T cell lymphoma invasion and metastasis 2 [Source:MGI Symbol;Acc:MGI:1344338]|Heterozygous||T|C|30|41.0|Non-synonymous|Alive, Line Propagating
6518869|IGL01320|19|41877936|L->P|0.97|Probably damaging|MGI:2147437|Rrp12|ribosomal RNA processing 12 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147437]|Heterozygous||A|G|27|34.0|Non-synonymous|Alive, Line Propagating
6518870|IGL01320|10|110754093|V->I|0.95|Possibly damaging|MGI:1289147|E2f7|E2F transcription factor 7 [Source:MGI Symbol;Acc:MGI:1289147]|Heterozygous|Mice homozygous for a knock-out allele develop normally through puberty and survive to old age.|G|A|25|39.0|Non-synonymous|Alive, Line Propagating
6518871|IGL01320|3|93148212|S->P|0.13|Benign|MGI:2685861|Crnn|cornulin [Source:MGI Symbol;Acc:MGI:2685861]|Heterozygous||T|C|22|40.0|Non-synonymous|Alive, Line Propagating
6518872|IGL01320|6|128575588|E->G||Benign|MGI:3039594|Bc048546|cDNA sequence BC048546 [Source:MGI Symbol;Acc:MGI:3039594]|Heterozygous||T|C|22|39.0|Non-synonymous|Alive, Line Propagating
6518873|IGL01320|7|113303407|I->T|0.94|Possibly damaging|MGI:1096381|Arntl|aryl hydrocarbon receptor nuclear translocator-like [Source:MGI Symbol;Acc:MGI:1096381]|Heterozygous|Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels.|T|C|17|41.0|Non-synonymous|Alive, Line Propagating
6518874|IGL01320|1|83198180|I->T|0.54|Possibly damaging|MGI:1923089|Wdr69|WD repeat domain 69 [Source:MGI Symbol;Acc:MGI:1923089]|Heterozygous||T|C|16|38.0|Non-synonymous|Alive, Line Propagating
6518875|IGL01320|19|34084640|T->A||Benign|MGI:1917416|Lipn|lipase, family member N [Source:MGI Symbol;Acc:MGI:1917416]|Heterozygous||A|G|16|38.5|Non-synonymous|Alive, Line Propagating
6518876|IGL01320|5|129744764|T->M|0.97|Probably damaging|MGI:1278343|Gbas|glioblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1278343]|Heterozygous||C|T|16|37.0|Non-synonymous|Alive, Line Propagating
6518877|IGL01320|11|100349380|T->I|0.96|Probably damaging|MGI:1261831|Hap1|huntingtin-associated protein 1 [Source:MGI Symbol;Acc:MGI:1261831]|Heterozygous|Homozygous mutant mice are viable at birth but show neurodegeneration in areas of the brain including the regions of the hypothalamus that control feeding behavior. Mutant mice exhibit decreased feeding behavior and die between 2 and 15 days after birth.|G|A|15|40.0|Non-synonymous|Alive, Line Propagating
6518878|IGL01320|3|20030469|N->S|0.35|Benign|MGI:2153839|Hps3|Hermansky-Pudlak syndrome 3 homolog (human) [Source:MGI Symbol;Acc:MGI:2153839]|Heterozygous|Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect.|T|C|15|40.0|Non-synonymous|Alive, Line Propagating
6518879|IGL01320|10|103404745|I->F||Benign|MGI:2143484|Slc6a15|solute carrier family 6 (neurotransmitter transporter), member 15 [Source:MGI Symbol;Acc:MGI:2143484]|Heterozygous|Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities.|A|T|14|40.0|Non-synonymous|Alive, Line Propagating
6518880|IGL01320|18|84879523|I->T|0.98|Probably damaging|MGI:1926952|Cyb5|cytochrome b-5 [Source:MGI Symbol;Acc:MGI:1926952]|Heterozygous|Mice homozygous for a conditional allele exhibit abnormal pharmacokinetics of xenobiotics following cre-mediated recombination.|T|C|14|39.0|Non-synonymous|Alive, Line Propagating
6518881|IGL01320|3|79595277|E->G|0.95|Possibly damaging|MGI:1914988|Ppid|peptidylprolyl isomerase D (cyclophilin D) [Source:MGI Symbol;Acc:MGI:1914988]|Heterozygous||A|G|14|40.5|Non-synonymous|Alive, Line Propagating
6518882|IGL01320|6|119215075|S->R|0.86|Possibly damaging|MGI:2442404|Dcp1b|DCP1 decapping enzyme homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2442404]|Heterozygous||T|A|13|34.0|Non-synonymous|Alive, Line Propagating
6518883|IGL01320|11|98040095|Disrupted splicing|||MGI:2144518|Stac2|SH3 and cysteine rich domain 2 [Source:MGI Symbol;Acc:MGI:2144518]|Heterozygous||T|C|152|35.0|Splice|Alive, Line Propagating
6518884|IGL01320|7|27328359|Disrupted splicing|||MGI:1321395|Ltbp4|latent transforming growth factor beta binding protein 4 [Source:MGI Symbol;Acc:MGI:1321395]|Heterozygous|Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer.|A|G|47|36.0|Splice|Alive, Line Propagating
6518885|IGL01320|15|98141278|Disrupted splicing|||MGI:1925791|Asb8|ankyrin repeat and SOCS box-containing 8 [Source:MGI Symbol;Acc:MGI:1925791]|Heterozygous||A|G|34|36.0|Splice|Alive, Line Propagating
6518887|IGL01320|19|50288079|Disrupted splicing|||MGI:1929666|Sorcs1|VPS10 domain receptor protein SORCS 1 [Source:MGI Symbol;Acc:MGI:1929666]|Heterozygous|Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.|A|G|33|37.0|Splice|Alive, Line Propagating
6518888|IGL01320|11|82912393|Disrupted splicing|||MGI:2443377|Unc45b|unc-45 homolog B (C. elegans) [Source:MGI Symbol;Acc:MGI:2443377]|Heterozygous||A|G|20|40.0|Splice|Alive, Line Propagating
6519499|IGL01321|2|88006245|C->S|||MGI:3030994|Olfr1160|olfactory receptor 1160 [Source:MGI Symbol;Acc:MGI:3030994]|Heterozygous||A|T|83|40.0|Non-synonymous|Alive, Line Propagating
6519500|IGL01321|1|93423802|R->W|0.95|Possibly damaging|MGI:99256|Hdlbp|high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]|Heterozygous||G|A|62|40.0|Non-synonymous|Alive, Line Propagating
6519501|IGL01321|8|125491518|T->M|1.0|Probably damaging|MGI:2676970|Sipa1l2|signal-induced proliferation-associated 1 like 2 [Source:MGI Symbol;Acc:MGI:2676970]|Heterozygous||G|A|53|37.0|Non-synonymous|Alive, Line Propagating
6519502|IGL01321|13|64921754|I->T|0.87|Possibly damaging|MGI:1925374|Spata31|spermatogenesis associated 31 [Source:MGI Symbol;Acc:MGI:1925374]|Heterozygous||T|C|46|39.0|Non-synonymous|Alive, Line Propagating
6519503|IGL01321|4|123440774|C->R|||MGI:108559|Macf1|microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]|Heterozygous|Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.|A|G|35|39.0|Non-synonymous|Alive, Line Propagating
6519504|IGL01321|11|94638600|R->Stop||N/A|MGI:2138133|Lrrc59|leucine rich repeat containing 59 [Source:MGI Symbol;Acc:MGI:2138133]|Heterozygous||C|T|33|37.0|Non-synonymous|Alive, Line Propagating
6519505|IGL01321|5|129757141|Stop->R||N/A|MGI:1278343|Gbas|glioblastoma amplified sequence [Source:MGI Symbol;Acc:MGI:1278343]|Heterozygous||T|A|32|37.0|Non-synonymous|Alive, Line Propagating
6519506|IGL01321|8|66476860|L->F||Benign|MGI:1913532|Tma16|translation machinery associated 16 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913532]|Heterozygous||G|A|31|40.0|Non-synonymous|Alive, Line Propagating
6519507|IGL01321|16|48582462|S->P||Benign|MGI:1316740|Morc1|microrchidia 1 [Source:MGI Symbol;Acc:MGI:1316740]|Heterozygous|Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile.|T|C|29|39.0|Non-synonymous|Alive, Line Propagating
6519508|IGL01321|17|42845389|S->G|0.94|Possibly damaging|MGI:1330281|Cd2ap|CD2-associated protein [Source:MGI Symbol;Acc:MGI:1330281]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months.|T|C|29|37.0|Non-synonymous|Alive, Line Propagating
6519509|IGL01321|3|107941063|Q->R||Benign|MGI:1309467|Gstm6|glutathione S-transferase, mu 6 [Source:MGI Symbol;Acc:MGI:1309467]|Heterozygous||T|C|28|40.0|Non-synonymous|Alive, Line Propagating
6519510|IGL01321|6|3376259|D->V|0.75|Possibly damaging|MGI:1343184|Samd9l|sterile alpha motif domain containing 9-like [Source:MGI Symbol;Acc:MGI:1343184]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive, Line Propagating
6519511|IGL01321|16|85899475|R->G|0.98|Probably damaging|MGI:1346321|Adamts5|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) [Source:MGI Symbol;Acc:MGI:1346321]|Heterozygous|Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect.|T|C|27|35.0|Non-synonymous|Alive, Line Propagating
6519512|IGL01321|16|35856559|Q->L||Benign|MGI:1919489|Parp14|poly (ADP-ribose) polymerase family, member 14 [Source:MGI Symbol;Acc:MGI:1919489]|Heterozygous||T|A|26|39.0|Non-synonymous|Alive, Line Propagating
6519513|IGL01321|10|79527493|V->D|1.0|Probably damaging|MGI:1354945|Ppap2c|phosphatidic acid phosphatase type 2C [Source:MGI Symbol;Acc:MGI:1354945]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|T|23|37.0|Non-synonymous|Alive, Line Propagating
6519514|IGL01321|19|59301529|S->A||Benign|MGI:2677270|Pdzd8|PDZ domain containing 8 [Source:MGI Symbol;Acc:MGI:2677270]|Heterozygous||A|C|23|38.0|Non-synonymous|Alive, Line Propagating
6519515|IGL01321|7|106844749|L->P|1.0|Probably damaging|MGI:3030537|Olfr703|olfactory receptor 703 [Source:MGI Symbol;Acc:MGI:3030537]|Heterozygous||T|C|23|38.0|Non-synonymous|Alive, Line Propagating
6519516|IGL01321|11|51685843|V->D|0.99|Probably damaging|MGI:1913300|0610009b22rik|RIKEN cDNA 0610009B22 gene [Source:MGI Symbol;Acc:MGI:1913300]|Heterozygous||A|T|22|37.5|Non-synonymous|Alive, Line Propagating
6519517|IGL01321|14|65066762|N->D||Benign|MGI:1860765|Extl3|exostoses (multiple)-like 3 [Source:MGI Symbol;Acc:MGI:1860765]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides.|T|C|21|38.0|Non-synonymous|Alive, Line Propagating
6519518|IGL01321|8|91260873|L->Stop||N/A|MGI:1920563|Rpgrip1l|Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563]|Heterozygous|Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.|A|T|21|41.0|Non-synonymous|Alive, Line Propagating
6519519|IGL01321|17|35636866|N->K|0.88|Possibly damaging|MGI:2685476|Dpcr1|diffuse panbronchiolitis critical region 1 (human) [Source:MGI Symbol;Acc:MGI:2685476]|Heterozygous||A|T|17|37.0|Non-synonymous|Alive, Line Propagating
6519520|IGL01321|1|15312923|T->A|0.04|Benign|MGI:99632|Kcnb2|potassium voltage gated channel, Shab-related subfamily, member 2 [Source:MGI Symbol;Acc:MGI:99632]|Heterozygous||A|G|16|37.5|Non-synonymous|Alive, Line Propagating
6519521|IGL01321|3|5242328|T->A|0.86|Possibly damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||A|G|16|37.5|Non-synonymous|Alive, Line Propagating
6519522|IGL01321|4|49380269|S->P|0.99|Probably damaging|MGI:2444345|Acnat2|acyl-coenzyme A amino acid N-acyltransferase 2 [Source:MGI Symbol;Acc:MGI:2444345]|Heterozygous||A|G|16|36.0|Non-synonymous|Alive, Line Propagating
6519523|IGL01321|4|134343300|D->V|0.44|Possibly damaging|MGI:106637|Slc30a2|solute carrier family 30 (zinc transporter), member 2 [Source:MGI Symbol;Acc:MGI:106637]|Heterozygous||A|T|16|35.0|Non-synonymous|Alive, Line Propagating
6519524|IGL01321|8|122487600|S->R|0.02|Benign|MGI:3603204, MGI:5141853|Fam38a,gm20388|family with sequence similarity 38, member A [Source:MGI Symbol;Acc:MGI:3603204],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||A|T|16|35.5|Non-synonymous|Alive, Line Propagating
6519525|IGL01321|2|122173284|E->V|0.92|Possibly damaging|MGI:1918178|Trim69|tripartite motif-containing 69 [Source:MGI Symbol;Acc:MGI:1918178]|Heterozygous||A|T|15|38.0|Non-synonymous|Alive, Line Propagating
6519526|IGL01321|12|69196602|P->T|1.0|Probably damaging|MGI:1923566|Dnaaf2|dynein, axonemal assembly factor 2 [Source:MGI Symbol;Acc:MGI:1923566]|Heterozygous||G|T|13|35.0|Non-synonymous|Alive, Line Propagating
6519527|IGL01321|15|10447102|V->G|0.07|Benign|MGI:1925371|Dnajc21|DnaJ (Hsp40) homolog, subfamily C, member 21 [Source:MGI Symbol;Acc:MGI:1925371]|Heterozygous||A|C|12|39.0|Non-synonymous|Alive, Line Propagating
6519528|IGL01321|5|122610968|D->G|1.0|Probably damaging|MGI:1098597|Ift81|intraflagellar transport 81 [Source:MGI Symbol;Acc:MGI:1098597]|Heterozygous||T|C|12|40.5|Non-synonymous|Alive, Line Propagating
6519529|IGL01321|5|128786752|Y->C|0.99|Probably damaging|MGI:2443235|Rimbp2|RIMS binding protein 2 [Source:MGI Symbol;Acc:MGI:2443235]|Heterozygous||T|C|11|35.0|Non-synonymous|Alive, Line Propagating
6519530|IGL01321|17|87078500|M->K|0.98|Probably damaging|MGI:3643804|Gm5499|predicted pseudogene 5499 [Source:MGI Symbol;Acc:MGI:3643804]|Heterozygous||T|A|10|38.0|Non-synonymous|Alive, Line Propagating
6519531|IGL01321|7|66786003|Disrupted splicing|||MGI:2681008|Lass3|LAG1 homolog, ceramide synthase 3 [Source:MGI Symbol;Acc:MGI:2681008]|Heterozygous||A|C|42|39.0|Splice|Alive, Line Propagating
6519532|IGL01321|2|59350627|Disrupted splicing|||MGI:109281|Pkp4|plakophilin 4 [Source:MGI Symbol;Acc:MGI:109281]|Heterozygous|An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.|G|A|28|39.5|Splice|Alive, Line Propagating
6519533|IGL01321|12|110625607|Disrupted splicing|||MGI:103147|Dync1h1|dynein cytoplasmic 1 heavy chain 1 [Source:MGI Symbol;Acc:MGI:103147]|Heterozygous|Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.|A|G|17|37.0|Splice|Alive, Line Propagating
6519534|IGL01321|3|101427022|Disrupted splicing|||MGI:1926158|Igsf3|immunoglobulin superfamily, member 3 [Source:MGI Symbol;Acc:MGI:1926158]|Heterozygous||T|A|14|40.0|Splice|Alive, Line Propagating
6520158|IGL01322|7|8481333|H->L|||MGI:3757883|Vmn2r45|vomeronasal 2, receptor 45 [Source:MGI Symbol;Acc:MGI:3757883]|Heterozygous||T|A|342|40.0|Non-synonymous|Alive, Line Propagating
6520159|IGL01322|19|34619004|V->A|0.07|Benign|MGI:2148249|2010002m12rik|RIKEN cDNA 2010002M12 gene [Source:MGI Symbol;Acc:MGI:2148249]|Heterozygous||A|G|129|38.0|Non-synonymous|Alive, Line Propagating
6520160|IGL01322|7|84916382|V->E|0.82|Possibly damaging|MGI:3030124|Olfr290|olfactory receptor 290 [Source:MGI Symbol;Acc:MGI:3030124]|Heterozygous||T|A|121|39.0|Non-synonymous|Alive, Line Propagating
6520163|IGL01322|8|36103934|V->A|0.01|Benign|MGI:1196223|D8ertd82e|DNA segment, Chr 8, ERATO Doi 82, expressed [Source:MGI Symbol;Acc:MGI:1196223]|Heterozygous||T|C|92|35.0|Non-synonymous|Alive, Line Propagating
6520164|IGL01322|1|93395508|V->D|0.81|Possibly damaging|MGI:3052714|Ano7|anoctamin 7 [Source:MGI Symbol;Acc:MGI:3052714]|Heterozygous||T|A|72|39.0|Non-synonymous|Alive, Line Propagating
6520165|IGL01322|7|13832679|R->Stop||N/A|MGI:98430|Sult2a1|sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 [Source:MGI Symbol;Acc:MGI:98430]|Heterozygous||T|A|70|39.5|Non-synonymous|Alive, Line Propagating
6520166|IGL01322|10|129660126|T->A|0.93|Possibly damaging|MGI:3030634|Olfr800|olfactory receptor 800 [Source:MGI Symbol;Acc:MGI:3030634]|Heterozygous||A|G|67|40.0|Non-synonymous|Alive, Line Propagating
6520167|IGL01322|15|84086616|Y->F|0.63|Possibly damaging|MGI:1888971|Sult4a1|sulfotransferase family 4A, member 1 [Source:MGI Symbol;Acc:MGI:1888971]|Heterozygous||T|A|67|38.0|Non-synonymous|Alive, Line Propagating
6520168|IGL01322|7|21134111|K->N|||MGI:3647341|Vmn1r122|vomeronasal 1 receptor 122 [Source:MGI Symbol;Acc:MGI:3647341]|Heterozygous||T|A|62|40.0|Non-synonymous|Alive, Line Propagating
6520169|IGL01322|1|74351557|N->D|1.0|Probably damaging|MGI:1930773|Pnkd|paroxysmal nonkinesiogenic dyskinesia [Source:MGI Symbol;Acc:MGI:1930773]|Heterozygous||A|G|59|37.0|Non-synonymous|Alive, Line Propagating
6520170|IGL01322|7|127707436|N->Y|0.68|Possibly damaging|MGI:1332237|Bcl7c|B cell CLL/lymphoma 7C [Source:MGI Symbol;Acc:MGI:1332237]|Heterozygous||T|A|57|38.0|Non-synonymous|Alive, Line Propagating
6520171|IGL01322|6|66636915|Q->Stop||N/A|MGI:3644800|Vmn1r34|vomeronasal 1 receptor 34 [Source:MGI Symbol;Acc:MGI:3644800]|Heterozygous||G|A|55|40.0|Non-synonymous|Alive, Line Propagating
6520173|IGL01322|2|76942975|V->A||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|51|38.0|Non-synonymous|Alive, Line Propagating
6520174|IGL01322|19|12680749|I->L|0.09|Benign|MGI:3031277|Olfr1443|olfactory receptor 1443 [Source:MGI Symbol;Acc:MGI:3031277]|Heterozygous||A|C|47|40.0|Non-synonymous|Alive, Line Propagating
6520175|IGL01322|3|53541038|V->A|0.01|Benign|MGI:2444465|Frem2|Fras1 related extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:2444465]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.|A|G|46|38.0|Non-synonymous|Alive, Line Propagating
6520176|IGL01322|19|46450943|E->K|0.78|Possibly damaging|MGI:1345643|Sufu|suppressor of fused homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1345643]|Heterozygous|Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.|G|A|43|38.0|Non-synonymous|Alive, Line Propagating
6520177|IGL01322|11|22089636|K->N|1.0|Probably damaging|MGI:2667252|Ehbp1|EH domain binding protein 1 [Source:MGI Symbol;Acc:MGI:2667252]|Heterozygous||T|A|42|40.0|Non-synonymous|Alive, Line Propagating
6520178|IGL01322|2|24965617|S->P||Benign|MGI:1914478|Wdr85|WD repeat domain 85 [Source:MGI Symbol;Acc:MGI:1914478]|Heterozygous||T|C|41|39.0|Non-synonymous|Alive, Line Propagating
6520179|IGL01322|2|28833572|D->G||Benign|MGI:2138937|Gtf3c4|general transcription factor IIIC, polypeptide 4 [Source:MGI Symbol;Acc:MGI:2138937]|Heterozygous||T|C|40|40.0|Non-synonymous|Alive, Line Propagating
6520180|IGL01322|7|25658707|R->W|0.96|Probably damaging|MGI:107701|Bckdha|branched chain ketoacid dehydrogenase E1, alpha polypeptide [Source:MGI Symbol;Acc:MGI:107701]|Heterozygous||T|A|39|35.0|Non-synonymous|Alive, Line Propagating
6520181|IGL01322|11|109682912|V->A|0.99|Probably damaging|MGI:2388266|Fam20a|family with sequence similarity 20, member A [Source:MGI Symbol;Acc:MGI:2388266]|Heterozygous||A|G|36|39.0|Non-synonymous|Alive, Line Propagating
6520182|IGL01322|17|36865083|R->W|||MGI:1916347|Trim15|tripartite motif-containing 15 [Source:MGI Symbol;Acc:MGI:1916347]|Heterozygous||G|A|35|38.0|Non-synonymous|Alive, Line Propagating
6520183|IGL01322|11|21711949|L->P|1.0|Probably damaging|MGI:2144467|Wdpcp|WD repeat containing planar cell polarity effector [Source:MGI Symbol;Acc:MGI:2144467]|Heterozygous||T|C|34|39.0|Non-synonymous|Alive, Line Propagating
6520184|IGL01322|7|86466272|I->N|1.0|Probably damaging|MGI:3030133|Olfr299|olfactory receptor 299 [Source:MGI Symbol;Acc:MGI:3030133]|Heterozygous||T|A|34|40.0|Non-synonymous|Alive, Line Propagating
6520185|IGL01322|5|43689003|T->K|0.04|Benign|MGI:1924487|Cc2d2a|coiled-coil and C2 domain containing 2A [Source:MGI Symbol;Acc:MGI:1924487]|Heterozygous||C|A|33|39.0|Non-synonymous|Alive, Line Propagating
6520186|IGL01322|9|56898588|F->I|1.0|Probably damaging|MGI:2153093|Cspg4|chondroitin sulfate proteoglycan 4 [Source:MGI Symbol;Acc:MGI:2153093]|Heterozygous|Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology.|T|A|32|37.0|Non-synonymous|Alive, Line Propagating
6520187|IGL01322|19|12099405|V->G|0.05|Benign|MGI:3031261|Olfr1427|olfactory receptor 1427 [Source:MGI Symbol;Acc:MGI:3031261]|Heterozygous||A|C|31|40.0|Non-synonymous|Alive, Line Propagating
6520188|IGL01322|16|87466276|V->A|||MGI:1921362|Usp16|ubiquitin specific peptidase 16 [Source:MGI Symbol;Acc:MGI:1921362]|Heterozygous||T|C|29|40.0|Non-synonymous|Alive, Line Propagating
6520189|IGL01322|5|138447578|I->T||Benign|MGI:1919404|Zfp157|zinc finger protein 157 [Source:MGI Symbol;Acc:MGI:1919404]|Heterozygous||T|C|28|40.0|Non-synonymous|Alive, Line Propagating
6520191|IGL01322|9|118484830|S->P|0.06|Benign|MGI:1201683|Eomes|eomesodermin homolog (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:1201683]|Heterozygous|Homozygous null mice display embryonic lethality, fail to implant, and lack trophoectoderm outgrowth.|T|C|27|38.0|Non-synonymous|Alive, Line Propagating
6520192|IGL01322|12|17175348|M->V||Benign|MGI:2687399|Kcnf1|potassium voltage-gated channel, subfamily F, member 1 [Source:MGI Symbol;Acc:MGI:2687399]|Heterozygous||T|C|23|39.0|Non-synonymous|Alive, Line Propagating
6520193|IGL01322|19|5040009|Y->H|1.0|Probably damaging|MGI:1919680|B3gnt1|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 [Source:MGI Symbol;Acc:MGI:1919680]|Heterozygous|Mice homozygous for a null allele display altered lymphocyte rolling and abnormal lymph node B and T cell numbers.|T|C|23|39.0|Non-synonymous|Alive, Line Propagating
6520194|IGL01322|15|99243385|I->N|0.99|Probably damaging|MGI:1858420|Mcrs1|microspherule protein 1 [Source:MGI Symbol;Acc:MGI:1858420]|Heterozygous||A|T|21|36.0|Non-synonymous|Alive, Line Propagating
6520195|IGL01322|6|130062022|T->S|0.01|Benign|MGI:101904|Klra4|killer cell lectin-like receptor, subfamily A, member 4 [Source:MGI Symbol;Acc:MGI:101904]|Heterozygous||T|A|20|40.5|Non-synonymous|Alive, Line Propagating
6520196|IGL01322|4|52450842|Y->C|1.0|Probably damaging|MGI:106067|Smc2|structural maintenance of chromosomes 2 [Source:MGI Symbol;Acc:MGI:106067]|Heterozygous||A|G|17|35.0|Non-synonymous|Alive, Line Propagating
6520197|IGL01322|3|151835686|S->A|0.05|Benign|MGI:97796|Ptgfr|prostaglandin F receptor [Source:MGI Symbol;Acc:MGI:97796]|Heterozygous|Pregnant females homozygous for a targeted null mutation are unable to deliver their offspring due to lack of induction of the oxytocin receptor and fail to show the normal decline of serum progesterone levels preceding parturition.|A|C|15|39.0|Non-synonymous|Alive, Line Propagating
6520198|IGL01322|9|58907085|E->G|0.4|Benign|MGI:1097159|Neo1|neogenin [Source:MGI Symbol;Acc:MGI:1097159]|Heterozygous|Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development.|T|C|11|39.0|Non-synonymous|Alive, Line Propagating
6520199|IGL01322|17|32144471|D->G|1.0|Probably damaging|MGI:99460|Notch3|notch 3 [Source:MGI Symbol;Acc:MGI:99460]|Heterozygous|Homozygous null mice are viable, fertile, and show no overt phenotype. Adult homozygous null mice for one allele display a small thymus and reduced thymocyte numbers.|T|C|10|35.0|Non-synonymous|Alive, Line Propagating
6520200|IGL01322|9|36718421|Q->Stop||N/A|MGI:1202065|Chek1|checkpoint kinase 1 [Source:MGI Symbol;Acc:MGI:1202065]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic lethality between E2.5 and E7.5, impaired cell cycle checkpoint function, increase in blastocyst apoptosis and lack of inner cell mass proliferation.|G|A|10|38.5|Non-synonymous|Alive, Line Propagating
6520202|IGL01322|2|156020339|Disrupted splicing|||MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||T|A|22|36.5|Splice|Alive, Line Propagating
6520203|IGL01322|2|25446782|Disrupted splicing|||MGI:99606|Abca2|ATP-binding cassette, sub-family A (ABC1), member 2 [Source:MGI Symbol;Acc:MGI:99606]|Heterozygous|Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,|T|A|14|37.5|Splice|Alive, Line Propagating
6520828|IGL01323|17|33137319|V->A|0.2|Benign|MGI:3045293|Morc2b|microrchidia 2B [Source:MGI Symbol;Acc:MGI:3045293]|Heterozygous||A|G|119|39.0|Non-synonymous|Alive, Line Propagating
6520829|IGL01323|11|100038780|S->P|0.28|Benign|MGI:1309994|Krt34|keratin 34 [Source:MGI Symbol;Acc:MGI:1309994]|Heterozygous||A|G|107|37.0|Non-synonymous|Alive, Line Propagating
6520830|IGL01323|17|37406140|M->I||Benign|MGI:2177490|Olfr107|olfactory receptor 107 [Source:MGI Symbol;Acc:MGI:2177490]|Heterozygous||G|T|102|39.0|Non-synonymous|Alive, Line Propagating
6520831|IGL01323|7|143643374|P->L|0.85|Possibly damaging|MGI:1930270|Tnfrsf22|tumor necrosis factor receptor superfamily, member 22 [Source:MGI Symbol;Acc:MGI:1930270]|Heterozygous||G|A|98|40.0|Non-synonymous|Alive, Line Propagating
6520832|IGL01323|12|115165857|D->G|||MGI:3645823, MGI:3052201, MGI:3581248|Ac074329.3||Heterozygous||T|C|78|39.0|Non-synonymous|Alive, Line Propagating
6520834|IGL01323|7|105896802|S->P|0.04|Benign|MGI:3782245|Gm4070|predicted gene 4070 [Source:MGI Symbol;Acc:MGI:3782245]|Heterozygous||A|G|61|40.0|Non-synonymous|Alive, Line Propagating
6520835|IGL01323|15|99058636|S->N|||MGI:97774|Prph|peripherin [Source:MGI Symbol;Acc:MGI:97774]|Heterozygous|Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons.|G|A|60|39.0|Non-synonymous|Alive, Line Propagating
6520836|IGL01323|1|128216543|S->N||Benign|MGI:2448514|R3hdm1|R3H domain containing 1 [Source:MGI Symbol;Acc:MGI:2448514]|Heterozygous||G|A|59|41.0|Non-synonymous|Alive, Line Propagating
6520837|IGL01323|13|49647642|V->D|0.9|Possibly damaging|MGI:1913586|Cenpp|centromere protein P [Source:MGI Symbol;Acc:MGI:1913586]|Heterozygous||A|T|53|39.0|Non-synonymous|Alive, Line Propagating
6520838|IGL01323|5|101895064|S->R|0.96|Probably damaging|MGI:1096875|Wdfy3|WD repeat and FYVE domain containing 3 [Source:MGI Symbol;Acc:MGI:1096875]|Heterozygous||G|T|52|37.5|Non-synonymous|Alive, Line Propagating
6520839|IGL01323|6|120334796|Q->R||Benign|MGI:1914450|Ccdc77|coiled-coil domain containing 77 [Source:MGI Symbol;Acc:MGI:1914450]|Heterozygous||T|C|50|36.5|Non-synonymous|Alive, Line Propagating
6520840|IGL01323|10|7669556|F->I||Benign|MGI:1917162|Nup43|nucleoporin 43 [Source:MGI Symbol;Acc:MGI:1917162]|Heterozygous||T|A|49|40.0|Non-synonymous|Alive, Line Propagating
6520841|IGL01323|9|26755910|V->A|0.44|Possibly damaging|MGI:1924148|B3gat1|beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) [Source:MGI Symbol;Acc:MGI:1924148]|Heterozygous|Mice homozygous for a null allele exhibit reduced long term potentiation and impaired spatial learning.|T|C|49|37.0|Non-synonymous|Alive, Line Propagating
6520842|IGL01323|6|91492353|Y->C|0.86|Possibly damaging|MGI:103557|Xpc|xeroderma pigmentosum, complementation group C [Source:MGI Symbol;Acc:MGI:103557]|Heterozygous|Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair.|T|C|48|39.5|Non-synonymous|Alive, Line Propagating
6520843|IGL01323|12|29987137|Q->K||Benign|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||C|A|42|39.0|Non-synonymous|Alive, Line Propagating
6520844|IGL01323|5|76591765|T->A|0.77|Possibly damaging|MGI:2681869|Cep135|centrosomal protein 135 [Source:MGI Symbol;Acc:MGI:2681869]|Heterozygous||A|G|42|38.5|Non-synonymous|Alive, Line Propagating
6520845|IGL01323|6|115785125|T->A||Benign|MGI:1914338|Cand2|cullin-associated and neddylation-dissociated 2 (putative) [Source:MGI Symbol;Acc:MGI:1914338]|Heterozygous||A|G|39|35.0|Non-synonymous|Alive, Line Propagating
6520846|IGL01323|11|29541447|S->R|1.0|Probably damaging|MGI:1924034|Mtif2|mitochondrial translational initiation factor 2 [Source:MGI Symbol;Acc:MGI:1924034]|Heterozygous||T|A|37|39.0|Non-synonymous|Alive, Line Propagating
6520847|IGL01323|12|65042724|F->I|0.02|Benign|MGI:104602|Prpf39|PRP39 pre-mRNA processing factor 39 homolog (yeast) [Source:MGI Symbol;Acc:MGI:104602]|Heterozygous||T|A|36|39.0|Non-synonymous|Alive, Line Propagating
6520848|IGL01323|15|101920281|K->Q|1.0|Probably damaging|MGI:96701|Krt4|keratin 4 [Source:MGI Symbol;Acc:MGI:96701]|Heterozygous|Mice homozygous for disruptions in this gene display hyperplasia throughout the epithelium of the esophagus and tongue. Mice homozygous or heterozygous for a dominant mutation display oral leukoplakia and homozygotes display postnatal growth retardation.|T|G|36|39.0|Non-synonymous|Alive, Line Propagating
6520849|IGL01323|2|120524464|D->E|0.02|Benign|MGI:1270153|Zfp106|zinc finger protein 106 [Source:MGI Symbol;Acc:MGI:1270153]|Heterozygous||A|T|35|38.0|Non-synonymous|Alive, Line Propagating
6520850|IGL01323|10|41071559|N->I|0.53|Possibly damaging|MGI:2155249|Gpr6|G protein-coupled receptor 6 [Source:MGI Symbol;Acc:MGI:2155249]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|A|34|36.0|Non-synonymous|Alive, Line Propagating
6520851|IGL01323|2|166871495|D->G|1.0|Probably damaging|MGI:2139354|Arfgef2|ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2139354]|Heterozygous||A|G|34|39.0|Non-synonymous|Alive, Line Propagating
6520852|IGL01323|5|43609260|D->G|0.36|Benign|MGI:1925911|C1qtnf7|C1q and tumor necrosis factor related protein 7 [Source:MGI Symbol;Acc:MGI:1925911]|Heterozygous||A|G|33|39.0|Non-synonymous|Alive, Line Propagating
6520853|IGL01323|11|51825338|T->A|1.0|Probably damaging|MGI:1924151|Phf15|PHD finger protein 15 [Source:MGI Symbol;Acc:MGI:1924151]|Heterozygous||T|C|32|37.0|Non-synonymous|Alive, Line Propagating
6520854|IGL01323|6|115966799|T->S|0.2|Benign|MGI:2154244|Plxnd1|plexin D1 [Source:MGI Symbol;Acc:MGI:2154244]|Heterozygous|Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels.|T|A|32|39.0|Non-synonymous|Alive, Line Propagating
6520855|IGL01323|19|11647461|L->S|1.0|Probably damaging|MGI:2684945|Plac1l|placenta-specific 1-like [Source:MGI Symbol;Acc:MGI:2684945]|Heterozygous||A|G|31|38.0|Non-synonymous|Alive, Line Propagating
6520856|IGL01323|8|33386603|I->L|0.99|Probably damaging|MGI:1922279|Purg|purine-rich element binding protein G [Source:MGI Symbol;Acc:MGI:1922279]|Heterozygous||A|T|30|37.0|Non-synonymous|Alive, Line Propagating
6520857|IGL01323|7|28865564|E->D|0.01|Benign|MGI:1316742|Lgals7|lectin, galactose binding, soluble 7 [Source:MGI Symbol;Acc:MGI:1316742]|Heterozygous||G|T|29|39.0|Non-synonymous|Alive, Line Propagating
6520858|IGL01323|2|28915546|S->N|0.04|Benign|MGI:1859288|Barhl1|BarH-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1859288]|Heterozygous|Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells.|C|T|27|35.0|Non-synonymous|Alive, Line Propagating
6520859|IGL01323|3|83030211|S->P|1.0|Probably damaging|MGI:1316726|Fga|fibrinogen alpha chain [Source:MGI Symbol;Acc:MGI:1316726]|Heterozygous|Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging.|T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6520860|IGL01323|11|9136100|Stop->W||N/A|MGI:1097668|Upp1|uridine phosphorylase 1 [Source:MGI Symbol;Acc:MGI:1097668]|Heterozygous|Mice homozygous for a targeted disruption have increased uridine concentration in tissues, urine and blood, along with disorders of various nucleotide metabolisms and decreased sensitivity to pentobarbital and 5-fluorouracil.|A|G|25|34.0|Non-synonymous|Alive, Line Propagating
6520861|IGL01323|13|12398938|I->T|||MGI:2442524|Heatr1|HEAT repeat containing 1 [Source:MGI Symbol;Acc:MGI:2442524]|Heterozygous||T|C|24|39.0|Non-synonymous|Alive, Line Propagating
6520862|IGL01323|2|109298442|T->A||Benign|MGI:2446977|Kif18a|kinesin family member 18A [Source:MGI Symbol;Acc:MGI:2446977]|Heterozygous||A|G|20|39.0|Non-synonymous|Alive, Line Propagating
6520863|IGL01323|9|64998305|F->L|1.0|Probably damaging|MGI:1889341|Ptplad1|protein tyrosine phosphatase-like A domain containing 1 [Source:MGI Symbol;Acc:MGI:1889341]|Heterozygous||A|G|15|40.0|Non-synonymous|Alive, Line Propagating
6520864|IGL01323|7|142968388|S->P|0.28|Benign|MGI:96920|Ascl2|achaete-scute complex homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:96920]|Heterozygous|Mice homozygous for a knock-out allele or heterozygous for a maternally inherited allele exhibit embryonic lethality during organogenesis associated with abnormal embryogenesis.|A|G|13|35.0|Non-synonymous|Alive, Line Propagating
6520865|IGL01323|17|74622925|A->V|||MGI:1276108|Birc6|baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]|Heterozygous|Homozygous mice exhibit perinatal lethality and exhibit placental defects.|C|T|11|38.0|Non-synonymous|Alive, Line Propagating
6520866|IGL01323|7|120884815|Disrupted splicing|||MGI:1195261|Eef2k|eukaryotic elongation factor-2 kinase [Source:MGI Symbol;Acc:MGI:1195261]|Heterozygous|Mice homozygous for a knock-out allele exhibit a resistance to resveratrol inhibition of injury-induced choroidal neovascularization.|T|C|64|37.5|Splice|Alive, Line Propagating
6520867|IGL01323|5|77352037|Disrupted splicing|||MGI:1352480|Igfbp7|insulin-like growth factor binding protein 7 [Source:MGI Symbol;Acc:MGI:1352480]|Heterozygous||A|G|60|40.0|Splice|Alive, Line Propagating
6520868|IGL01323|4|149719588|Disrupted splicing|||MGI:1196277|Tmem201|transmembrane protein 201 [Source:MGI Symbol;Acc:MGI:1196277]|Heterozygous||G|A|43|38.0|Splice|Alive, Line Propagating
6520869|IGL01323|4|92146390|Disrupted splicing|||MGI:1916564|Izumo3|IZUMO family member 3 [Source:MGI Symbol;Acc:MGI:1916564]|Heterozygous||A|G|40|40.5|Splice|Alive, Line Propagating
6520870|IGL01323|8|43138563|Disrupted splicing|||MGI:2687279|Triml1|tripartite motif family-like 1 [Source:MGI Symbol;Acc:MGI:2687279]|Heterozygous||T|C|31|38.0|Splice|Alive, Line Propagating
6520871|IGL01323|2|147034847|Disrupted splicing|||MGI:894687|Xrn2|5'-3' exoribonuclease 2 [Source:MGI Symbol;Acc:MGI:894687]|Heterozygous||C|T|20|40.0|Splice|Alive, Line Propagating
6521490|IGL01324|10|63018124|I->K||Unknown|MGI:1926462|Hnrnph3|heterogeneous nuclear ribonucleoprotein H3 [Source:MGI Symbol;Acc:MGI:1926462]|Heterozygous||A|T|166|37.0|Non-synonymous|Alive, Line Propagating
6521491|IGL01324|7|107036847|S->P|1.0|Probably damaging|MGI:3030547|Olfr713|olfactory receptor 713 [Source:MGI Symbol;Acc:MGI:3030547]|Heterozygous||T|C|142|39.0|Non-synonymous|Alive, Line Propagating
6521492|IGL01324|5|140631513|R->W|0.01|Benign|MGI:1925589|Ttyh3|tweety homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1925589]|Heterozygous||G|A|103|35.0|Non-synonymous|Alive, Line Propagating
6521493|IGL01324|19|21409886|I->K|0.87|Possibly damaging|MGI:95678|Gda|guanine deaminase [Source:MGI Symbol;Acc:MGI:95678]|Heterozygous||A|T|77|40.0|Non-synonymous|Alive, Line Propagating
6521494|IGL01324|19|13654933|I->T|0.39|Benign|MGI:3031324|Olfr1490|olfactory receptor 1490 [Source:MGI Symbol;Acc:MGI:3031324]|Heterozygous||T|C|69|38.0|Non-synonymous|Alive, Line Propagating
6521495|IGL01324|6|90689703|R->L|1.0|Probably damaging|MGI:1196356|Iqsec1|IQ motif and Sec7 domain 1 [Source:MGI Symbol;Acc:MGI:1196356]|Heterozygous|Mice homozygous for a conditional allele activated in neurons fail to exhibit mGluR- and NMDAR-mediated long term depression.|C|A|64|37.0|Non-synonymous|Alive, Line Propagating
6521496|IGL01324|6|112739397|H->L|||MGI:2152938|Srgap3|SLIT-ROBO Rho GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:2152938]|Heterozygous|Mice homozygous for a knock-out allele exhibit a reduction in spine density.|T|A|64|37.0|Non-synonymous|Alive, Line Propagating
6521497|IGL01324|2|131085541|D->A|||MGI:99668|Siglec1|sialic acid binding Ig-like lectin 1, sialoadhesin [Source:MGI Symbol;Acc:MGI:99668]|Heterozygous|Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels.|T|G|60|37.0|Non-synonymous|Alive, Line Propagating
6521498|IGL01324|8|25849707|S->T|||MGI:1202300|Kcnu1|potassium channel, subfamily U, member 1 [Source:MGI Symbol;Acc:MGI:1202300]|Heterozygous|Homozygous male mutants are infertile with impaird sperm capacitation.|T|A|56|39.0|Non-synonymous|Alive, Line Propagating
6521499|IGL01324|9|42345431|S->G|0.99|Probably damaging|MGI:109575|Tecta|tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]|Heterozygous|Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.|T|C|54|40.0|Non-synonymous|Alive, Line Propagating
6521500|IGL01324|4|100479225|E->G|1.0|Probably damaging|MGI:3588216|Ube2u|ubiquitin-conjugating enzyme E2U (putative) [Source:MGI Symbol;Acc:MGI:3588216]|Heterozygous||A|G|53|40.0|Non-synonymous|Alive, Line Propagating
6521501|IGL01324|11|33645603|M->T||Benign|MGI:1917607|Kcnip1|Kv channel-interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917607]|Heterozygous||A|G|51|37.0|Non-synonymous|Alive, Line Propagating
6521502|IGL01324|5|64925179|N->S|1.0|Probably damaging|MGI:1341295|Tlr1|toll-like receptor 1 [Source:MGI Symbol;Acc:MGI:1341295]|Heterozygous|Homozygous null mice display decreased macrophage peptoglycan-stimulated IL-6 production.|T|C|51|39.0|Non-synonymous|Alive, Line Propagating
6521503|IGL01324|5|120623638|D->G|0.02|Benign|MGI:1919240|Ddx54|DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 [Source:MGI Symbol;Acc:MGI:1919240]|Heterozygous||A|G|48|36.0|Non-synonymous|Alive, Line Propagating
6521504|IGL01324|16|55815804|T->A|1.0|Probably damaging|MGI:1931595|Nfkbiz|nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta [Source:MGI Symbol;Acc:MGI:1931595]|Heterozygous||T|C|47|37.0|Non-synonymous|Alive, Line Propagating
6521505|IGL01324|12|110626865|R->C|0.99|Probably damaging|MGI:103147|Dync1h1|dynein cytoplasmic 1 heavy chain 1 [Source:MGI Symbol;Acc:MGI:103147]|Heterozygous|Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.|C|T|46|37.0|Non-synonymous|Alive, Line Propagating
6521506|IGL01324|19|9883728|R->C||Unknown|MGI:1313288|Incenp|inner centromere protein [Source:MGI Symbol;Acc:MGI:1313288]|Heterozygous|Homozygous mutant embryos die before E8.5. Embryonic cells exhibit abnormal nuclei and abberent mitosis.|G|A|44|37.5|Non-synonymous|Alive, Line Propagating
6521507|IGL01324|1|91959415|P->S|0.69|Possibly damaging|MGI:3036234|Hdac4|histone deacetylase 4 [Source:MGI Symbol;Acc:MGI:3036234]|Heterozygous||G|A|43|39.0|Non-synonymous|Alive, Line Propagating
6521508|IGL01324|8|3621232|V->A|0.04|Benign|MGI:1914689|Xab2|XPA binding protein 2 [Source:MGI Symbol;Acc:MGI:1914689]|Heterozygous|Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction.|A|G|43|37.0|Non-synonymous|Alive, Line Propagating
6521509|IGL01324|4|132863265|M->K|0.46|Possibly damaging|MGI:1931027|Stx12|syntaxin 12 [Source:MGI Symbol;Acc:MGI:1931027]|Heterozygous||A|T|41|38.0|Non-synonymous|Alive, Line Propagating
6521510|IGL01324|8|25662820|T->I|0.98|Probably damaging|MGI:2142581|Whsc1l1|Wolf-Hirschhorn syndrome candidate 1-like 1 (human) [Source:MGI Symbol;Acc:MGI:2142581]|Heterozygous||C|T|41|40.0|Non-synonymous|Alive, Line Propagating
6521511|IGL01324|12|76043752|V->F|1.0|Probably damaging|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|G|T|38|39.0|Non-synonymous|Alive, Line Propagating
6521512|IGL01324|4|101768068|D->E|1.0|Probably damaging|MGI:104993|Lepr|leptin receptor [Source:MGI Symbol;Acc:MGI:104993]|Heterozygous|Homozygous mutants are hyperphagic, low-activity, poorly cold-adapted, sterile and have enhanced fat conversion. They are obese, hyperinsulinemic and, on certain strains, severely hyperglycemic. Heterozygotes are normal but resistant to prolonged fasting.|T|A|35|40.0|Non-synonymous|Alive, Line Propagating
6521513|IGL01324|11|35610702|G->V|0.99|Probably damaging|MGI:1315202|Slit3|slit homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315202]|Heterozygous|Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion.|G|T|33|39.0|Non-synonymous|Alive, Line Propagating
6521514|IGL01324|7|122183190|I->F|0.55|Possibly damaging|MGI:1349436|Ern2|endoplasmic reticulum (ER) to nucleus signalling 2 [Source:MGI Symbol;Acc:MGI:1349436]|Heterozygous|Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation.|T|A|31|40.0|Non-synonymous|Alive, Line Propagating
6521515|IGL01324|1|188848992|V->L|0.3|Benign|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|G|T|25|39.0|Non-synonymous|Alive, Line Propagating
6521516|IGL01324|7|44905696|T->S|1.0|Probably damaging|MGI:101921|Ap2a1|adaptor protein complex AP-2, alpha 1 subunit [Source:MGI Symbol;Acc:MGI:101921]|Heterozygous||T|A|25|37.0|Non-synonymous|Alive, Line Propagating
6521517|IGL01324|11|119447237|Y->C|||MGI:1289196|Rnf213|ring finger protein 213 [Source:MGI Symbol;Acc:MGI:1289196]|Heterozygous||A|G|24|37.0|Non-synonymous|Alive, Line Propagating
6521518|IGL01324|15|27905323|V->A|0.09|Benign|MGI:1927230|Trio|triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]|Heterozygous|Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb.|A|G|24|38.5|Non-synonymous|Alive, Line Propagating
6521519|IGL01324|13|24752122|T->A|0.62|Possibly damaging|MGI:1927344|Gmnn|geminin [Source:MGI Symbol;Acc:MGI:1927344]|Heterozygous|Homozygotes for targeted null mutations exhibit early embryonic lethality, defective inner cell mass formation, and endoreduplication.|T|C|22|36.5|Non-synonymous|Alive, Line Propagating
6521520|IGL01324|19|9003032|G->D|0.24|Benign|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|G|A|22|39.5|Non-synonymous|Alive, Line Propagating
6521521|IGL01324|17|29282251|L->P|1.0|Probably damaging|MGI:2136782|Bc004004|cDNA sequence BC004004 [Source:MGI Symbol;Acc:MGI:2136782]|Heterozygous||T|C|20|39.0|Non-synonymous|Alive, Line Propagating
6521522|IGL01324|8|109832782|D->E|0.18|Benign|MGI:101919|Ap1g1|adaptor protein complex AP-1, gamma 1 subunit [Source:MGI Symbol;Acc:MGI:101919]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality before E4.5. Heterozygous mutants display growth arrest for 3-4 days after weaning and a 20% reduction in CD4+ single positive cells in the thymus.|T|A|17|38.0|Non-synonymous|Alive, Line Propagating
6521523|IGL01324|1|74625610|T->P|0.72|Possibly damaging|MGI:1920831|Stk36|serine/threonine kinase 36 [Source:MGI Symbol;Acc:MGI:1920831]|Heterozygous|Homozygotes for one knock-out allele become runty and emaciated and die before 3 wks of age. Homozygotes for another knock-out allele show a similar growth arrest and mortality in addition to hydrocephalus, a domed head, ataxia, rhinitis, immature lungs and kidneys, and thymus and spleen atrophy.|A|C|16|35.5|Non-synonymous|Alive, Line Propagating
6521524|IGL01324|8|105093252|E->V|||MGI:3644960|Ces3b|carboxylesterase 3B [Source:MGI Symbol;Acc:MGI:3644960]|Heterozygous||A|T|16|39.0|Non-synonymous|Alive, Line Propagating
6521525|IGL01324|2|74675136|N->I|1.0|Probably damaging|MGI:96204|Hoxd12|homeobox D12 [Source:MGI Symbol;Acc:MGI:96204]|Heterozygous|Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter.|A|T|13|40.0|Non-synonymous|Alive, Line Propagating
6521526|IGL01324|11|54120158|D->G|0.97|Probably damaging|MGI:894286|P4ha2|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide [Source:MGI Symbol;Acc:MGI:894286]|Heterozygous||A|G|12|33.5|Non-synonymous|Alive, Line Propagating
6521527|IGL01324|2|25933623|V->L|0.98|Probably damaging|MGI:3036242|Camsap1|calmodulin regulated spectrin-associated protein 1 [Source:MGI Symbol;Acc:MGI:3036242]|Heterozygous||C|A|11|41.0|Non-synonymous|Alive, Line Propagating
6521528|IGL01324|14|101640302|Disrupted splicing|||MGI:1913450|Commd6|COMM domain containing 6 [Source:MGI Symbol;Acc:MGI:1913450]|Heterozygous||G|A|60|35.0|Splice|Alive, Line Propagating
6521529|IGL01324|5|21800009|Disrupted splicing|||MGI:109555|Psmc2|proteasome (prosome, macropain) 26S subunit, ATPase 2 [Source:MGI Symbol;Acc:MGI:109555]|Heterozygous||G|A|53|40.0|Splice|Alive, Line Propagating
6521530|IGL01324|14|32296185|Disrupted splicing|||MGI:1347094|Parg|poly (ADP-ribose) glycohydrolase [Source:MGI Symbol;Acc:MGI:1347094]|Heterozygous|Mice homozygous for one allele of this gene are hypersensitive to alkylating agents and ionizing radiation and susceptible to streptozotocin induced diabetes and endotoxic shock. Mice homozygous for a second allele display embryonic lethality and fail tohatch from the zona pellucida.|T|C|23|40.0|Splice|Alive, Line Propagating
6521531|IGL01324|10|23116551|Disrupted splicing|||MGI:1337104|Eya4|eyes absent 4 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1337104]|Heterozygous|Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion.|A|G|13|38.0|Splice|Alive, Line Propagating
6522150|IGL01325|18|37309623|V->E|1.0|Probably damaging|MGI:2136738|Pcdhb4|protocadherin beta 4 [Source:MGI Symbol;Acc:MGI:2136738]|Heterozygous||T|A|168|35.0|Non-synonymous|Alive, Line Propagating
6522151|IGL01325|5|8127333|N->S||Benign|MGI:1340046|Adam22|a disintegrin and metallopeptidase domain 22 [Source:MGI Symbol;Acc:MGI:1340046]|Heterozygous|Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves.|T|C|157|37.0|Non-synonymous|Alive, Line Propagating
6522152|IGL01325|7|104553689|F->L|1.0|Probably damaging|MGI:3030485|Olfr651|olfactory receptor 651 [Source:MGI Symbol;Acc:MGI:3030485]|Heterozygous||T|C|115|38.0|Non-synonymous|Alive, Line Propagating
6522153|IGL01325|2|117298529|H->L|0.93|Possibly damaging|MGI:1314635|Rasgrp1|RAS guanyl releasing protein 1 [Source:MGI Symbol;Acc:MGI:1314635]|Heterozygous|Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes.|T|A|112|39.0|Non-synonymous|Alive, Line Propagating
6522154|IGL01325|2|85430295|C->F|1.0|Probably damaging|MGI:3030828|Olfr994|olfactory receptor 994 [Source:MGI Symbol;Acc:MGI:3030828]|Heterozygous||C|A|90|39.0|Non-synonymous|Alive, Line Propagating
6522155|IGL01325|11|121540993|V->E|1.0|Probably damaging|MGI:1919686|Tbcd|tubulin-specific chaperone d [Source:MGI Symbol;Acc:MGI:1919686]|Heterozygous||T|A|85|39.0|Non-synonymous|Alive, Line Propagating
6522156|IGL01325|10|79194247|T->A|0.84|Possibly damaging|MGI:3646321|Vmn2r80|vomeronasal 2, receptor 80 [Source:MGI Symbol;Acc:MGI:3646321]|Heterozygous||A|G|83|37.0|Non-synonymous|Alive, Line Propagating
6522157|IGL01325|10|127057590|V->G|1.0|Probably damaging|MGI:2446144|March9|membrane-associated ring finger (C3HC4) 9 [Source:MGI Symbol;Acc:MGI:2446144]|Heterozygous||A|C|82|35.0|Non-synonymous|Alive, Line Propagating
6522158|IGL01325|1|45981633|L->P||Unknown|MGI:3646201|Rpl23a-ps1|ribosomal protein 23A, pseudogene 1 [Source:MGI Symbol;Acc:MGI:3646201]|Heterozygous||T|C|81|38.0|Non-synonymous|Alive, Line Propagating
6522159|IGL01325|16|13401224|V->A|||MGI:3050795|Mkl2|MKL/myocardin-like 2 [Source:MGI Symbol;Acc:MGI:3050795]|Heterozygous||T|C|66|37.0|Non-synonymous|Alive, Line Propagating
6522160|IGL01325|10|58476298|S->T|0.57|Possibly damaging|MGI:894323|Ranbp2|RAN binding protein 2 [Source:MGI Symbol;Acc:MGI:894323]|Heterozygous|Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.|T|A|64|38.0|Non-synonymous|Alive, Line Propagating
6522161|IGL01325|9|36698514|M->K|0.92|Possibly damaging|MGI:104590|Acrv1|acrosomal vesicle protein 1 [Source:MGI Symbol;Acc:MGI:104590]|Heterozygous||T|A|64|40.0|Non-synonymous|Alive, Line Propagating
6522162|IGL01325|15|50846814|S->P|||MGI:1927616|Trps1|trichorhinophalangeal syndrome I (human) [Source:MGI Symbol;Acc:MGI:1927616]|Heterozygous||A|G|63|40.0|Non-synonymous|Alive, Line Propagating
6522163|IGL01325|15|27025884|T->A|0.03|Benign|MGI:3646644|Gm6576|predicted gene 6576 [Source:MGI Symbol;Acc:MGI:3646644]|Heterozygous||A|G|60|35.0|Non-synonymous|Alive, Line Propagating
6522164|IGL01325|15|101884888|S->T||Unknown|MGI:1924305|Krt76|keratin 76 [Source:MGI Symbol;Acc:MGI:1924305]|Heterozygous||A|T|56|38.5|Non-synonymous|Alive, Line Propagating
6522165|IGL01325|8|105331649|M->K||Unknown|MGI:2679008|Fhod1|formin homology 2 domain containing 1 [Source:MGI Symbol;Acc:MGI:2679008]|Heterozygous||A|T|52|36.0|Non-synonymous|Alive, Line Propagating
6522166|IGL01325|2|181574961|Q->Stop||N/A|MGI:1915806|Uckl1|uridine-cytidine kinase 1-like 1 [Source:MGI Symbol;Acc:MGI:1915806]|Heterozygous||G|A|44|38.0|Non-synonymous|Alive, Line Propagating
6522167|IGL01325|16|97806517|N->Y|1.0|Probably damaging|MGI:1930121|Prdm15|PR domain containing 15 [Source:MGI Symbol;Acc:MGI:1930121]|Heterozygous||T|A|43|40.0|Non-synonymous|Alive, Line Propagating
6522168|IGL01325|14|57100221|T->A|0.02|Benign|MGI:95720|Gjb2|gap junction protein, beta 2 [Source:MGI Symbol;Acc:MGI:95720]|Heterozygous|Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells.|T|C|42|39.0|Non-synonymous|Alive, Line Propagating
6522169|IGL01325|2|148395552|E->K|0.01|Benign|MGI:105372|Sstr4|somatostatin receptor 4 [Source:MGI Symbol;Acc:MGI:105372]|Heterozygous|Homozygote null mice have increased susceptibility to inflammation, delayed type hypersensitivity, hyperalgesia and airway hypersensitivity.|G|A|42|35.0|Non-synonymous|Alive, Line Propagating
6522170|IGL01325|6|108381208|F->L|0.22|Benign|MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|T|A|41|39.0|Non-synonymous|Alive, Line Propagating
6522171|IGL01325|8|87781611|C->S|1.0|Probably damaging|MGI:1891217|Zfp423|zinc finger protein 423 [Source:MGI Symbol;Acc:MGI:1891217]|Heterozygous||A|T|39|38.0|Non-synonymous|Alive, Line Propagating
6522172|IGL01325|6|29412950|F->L||Benign|MGI:1918128|Ccdc136|coiled-coil domain containing 136 [Source:MGI Symbol;Acc:MGI:1918128]|Heterozygous||T|C|37|39.0|Non-synonymous|Alive, Line Propagating
6522173|IGL01325|17|55972839|P->S|0.02|Benign|MGI:1099461|Shd|src homology 2 domain-containing transforming protein D [Source:MGI Symbol;Acc:MGI:1099461]|Heterozygous||C|T|36|37.0|Non-synonymous|Alive, Line Propagating
6522174|IGL01325|19|36871633|S->R|0.36|Benign|MGI:1921743|Tnks2|tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 [Source:MGI Symbol;Acc:MGI:1921743]|Heterozygous|Mice homozygous for disruptions in this gene display a largely normal phenotype; however, body weight is lower than normal.|T|A|36|39.0|Non-synonymous|Alive, Line Propagating
6522175|IGL01325|7|6290546|T->N|0.98|Probably damaging|MGI:2442757|Zfp667|zinc finger protein 667 [Source:MGI Symbol;Acc:MGI:2442757]|Heterozygous||C|A|33|39.0|Non-synonymous|Alive, Line Propagating
6522176|IGL01325|4|19535229|S->G||Benign|MGI:1917818|Cpne3|copine III [Source:MGI Symbol;Acc:MGI:1917818]|Heterozygous||T|C|29|41.0|Non-synonymous|Alive, Line Propagating
6522177|IGL01325|18|61134006|D->G|||MGI:2441817|Hmgxb3|HMG box domain containing 3 [Source:MGI Symbol;Acc:MGI:2441817]|Heterozygous||T|C|28|37.0|Non-synonymous|Alive, Line Propagating
6522178|IGL01325|11|7064102|V->A|0.11|Benign|MGI:99677|Adcy1|adenylate cyclase 1 [Source:MGI Symbol;Acc:MGI:99677]|Heterozygous|Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities.|T|C|27|36.0|Non-synonymous|Alive, Line Propagating
6522179|IGL01325|13|60853533|T->A|0.98|Probably damaging|MGI:1922258|4930486l24rik|RIKEN cDNA 4930486L24 gene [Source:MGI Symbol;Acc:MGI:1922258]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive, Line Propagating
6522180|IGL01325|6|112775686|R->H|||MGI:2152938|Srgap3|SLIT-ROBO Rho GTPase activating protein 3 [Source:MGI Symbol;Acc:MGI:2152938]|Heterozygous|Mice homozygous for a knock-out allele exhibit a reduction in spine density.|C|T|27|37.0|Non-synonymous|Alive, Line Propagating
6522181|IGL01325|X|74335794|G->S||Benign|MGI:107683|Plxna3|plexin A3 [Source:MGI Symbol;Acc:MGI:107683]|Heterozygous|Mice homozygous for disruptions in this gene possess misdirected axons in the hippocampus. They are, otherwise, indistinguishable from wild-type mice.|G|A|27|40.0|Non-synonymous|Alive, Line Propagating
6522182|IGL01325|12|75926514|E->G|0.9|Possibly damaging|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|A|G|24|39.0|Non-synonymous|Alive, Line Propagating
6522183|IGL01325|5|35568803|R->S|0.73|Possibly damaging|MGI:1926140|2310079f23rik|RIKEN cDNA 2310079F23 gene [Source:MGI Symbol;Acc:MGI:1926140]|Heterozygous||T|A|23|39.0|Non-synonymous|Alive, Line Propagating
6522184|IGL01325|6|97232540|F->L||Benign|MGI:1929501|Arl6ip5|ADP-ribosylation factor-like 6 interacting protein 5 [Source:MGI Symbol;Acc:MGI:1929501]|Heterozygous||T|C|23|40.0|Non-synonymous|Alive, Line Propagating
6522185|IGL01325|9|30921688|I->F||Benign|MGI:2449569|Adamts15|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 15 [Source:MGI Symbol;Acc:MGI:2449569]|Heterozygous||T|A|22|35.0|Non-synonymous|Alive, Line Propagating
6522186|IGL01325|9|25113911|V->A||Benign|MGI:1915393|Herpud2|HERPUD family member 2 [Source:MGI Symbol;Acc:MGI:1915393]|Heterozygous||A|G|21|35.0|Non-synonymous|Alive, Line Propagating
6522187|IGL01325|7|122988618|G->R|1.0|Probably damaging|MGI:894835|Rbbp6|retinoblastoma binding protein 6 [Source:MGI Symbol;Acc:MGI:894835]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis.|G|A|18|40.0|Non-synonymous|Alive, Line Propagating
6522188|IGL01325|12|3427172|R->L|||MGI:1922552|Asxl2|additional sex combs like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1922552]|Heterozygous|Mice homozygous for a severe hypomorph allele display prenatal and postnatal lethality, premature death, vertebral transformations and splitting, decreased body weight, enlarged hearts, and age-related cardiac interstitial fibrosis.|G|T|16|37.0|Non-synonymous|Alive, Line Propagating
6522189|IGL01325|1|107435380|H->Q|0.98|Probably damaging|MGI:2151053|Serpinb7|serine (or cysteine) peptidase inhibitor, clade B, member 7 [Source:MGI Symbol;Acc:MGI:2151053]|Heterozygous||T|G|15|40.0|Non-synonymous|Alive, Line Propagating
6522190|IGL01325|7|80677368|R->Q|0.77|Possibly damaging|MGI:1917711|Crtc3|CREB regulated transcription coactivator 3 [Source:MGI Symbol;Acc:MGI:1917711]|Heterozygous|Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature.|C|T|14|38.0|Non-synonymous|Alive, Line Propagating
6522191|IGL01325|13|97122699|A->E||Benign|MGI:2444268|Fam169a|family with sequence similarity 169, member A [Source:MGI Symbol;Acc:MGI:2444268]|Heterozygous||C|A|13|39.0|Non-synonymous|Alive, Line Propagating
6522192|IGL01325|3|102013026|Y->D|1.0|Probably damaging|MGI:97324|Nhlh2|nescient helix loop helix 2 [Source:MGI Symbol;Acc:MGI:97324]|Heterozygous|Loss of function results in adult-onset obesity and reproductive defects, including hypogonadism, due to disruption of the hypothalamic-pituitary axis. Mutant male mice are sterile, whereas female mice show variable fertility dependent on the presence or absence of male mice.|T|G|13|39.0|Non-synonymous|Alive, Line Propagating
6522193|IGL01325|4|11070251|D->E|0.01|Benign|MGI:1924197|Ndufaf6|NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:MGI Symbol;Acc:MGI:1924197]|Heterozygous||A|T|12|31.5|Non-synonymous|Alive, Line Propagating
6522194|IGL01325|11|101465715|D->G||Benign|MGI:1349450|Vat1|vesicle amine transport protein 1 homolog (T californica) [Source:MGI Symbol;Acc:MGI:1349450]|Heterozygous||T|C|11|30.0|Non-synonymous|Alive, Line Propagating
6522195|IGL01325|2|69917097|K->Q|0.31|Benign|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|A|C|11|41.0|Non-synonymous|Alive, Line Propagating
6522196|IGL01325|7|16463322|G->D|0.95|Possibly damaging|MGI:109205|Npas1|neuronal PAS domain protein 1 [Source:MGI Symbol;Acc:MGI:109205]|Heterozygous||C|T|10|33.0|Non-synonymous|Alive, Line Propagating
6522197|IGL01325|3|14536541|Disrupted splicing|||MGI:1918960|Lrrcc1|leucine rich repeat and coiled-coil domain containing 1 [Source:MGI Symbol;Acc:MGI:1918960]|Heterozygous||T|C|72|40.0|Splice|Alive, Line Propagating
6522198|IGL01325|19|37004649|Disrupted splicing|||MGI:2147538|Btaf1|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, (Mot1 homolog, S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147538]|Heterozygous||T|A|59|39.0|Splice|Alive, Line Propagating
6522199|IGL01325|19|7021096|Disrupted splicing|||MGI:109130|Stip1|stress-induced phosphoprotein 1 [Source:MGI Symbol;Acc:MGI:109130]|Heterozygous||T|C|57|38.0|Splice|Alive, Line Propagating
6522200|IGL01325|19|29121262|Disrupted splicing|||MGI:1913275|Rcl1|RNA terminal phosphate cyclase-like 1 [Source:MGI Symbol;Acc:MGI:1913275]|Heterozygous||A|G|35|40.0|Splice|Alive, Line Propagating
6522201|IGL01325|6|39158309|Disrupted splicing|||MGI:2443388|Jhdm1d|jumonji C domain-containing histone demethylase 1 homolog D (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2443388]|Heterozygous||T|G|34|39.0|Splice|Alive, Line Propagating
6522202|IGL01325|2|153436351|Disrupted splicing|||MGI:1918765|8430427h17rik|RIKEN cDNA 8430427H17 gene [Source:MGI Symbol;Acc:MGI:1918765]|Heterozygous||A|G|24|39.5|Splice|Alive, Line Propagating
6522203|IGL01325|8|72483758|Disrupted splicing|||MGI:2142403|Slc35e1|solute carrier family 35, member E1 [Source:MGI Symbol;Acc:MGI:2142403]|Heterozygous||G|T|18|39.0|Splice|Alive, Line Propagating
6522204|IGL01325|3|89432446|Disrupted splicing|||MGI:1916161|Pygo2|pygopus 2 [Source:MGI Symbol;Acc:MGI:1916161]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality, have small or absent lens, abnormal optic cup morphology, and impaired mammagry gland epithelium proliferation.|C|T|17|39.0|Splice|Alive, Line Propagating
6522816|IGL01326|11|121945628|D->E|0.83|Possibly damaging|MGI:3800296|Gm9631|predicted gene 9631 [Source:MGI Symbol;Acc:MGI:3800296]|Heterozygous||A|T|87|40.0|Non-synonymous|Alive, Line Propagating
6522817|IGL01326|13|54524660|C->R|0.95|Possibly damaging|MGI:2442599|4732471d19rik|RIKEN cDNA 4732471D19 gene [Source:MGI Symbol;Acc:MGI:2442599]|Heterozygous||T|C|81|38.0|Non-synonymous|Alive, Line Propagating
6522818|IGL01326|2|28229552|Y->H|0.99|Probably damaging|MGI:1860437|Olfm1|olfactomedin 1 [Source:MGI Symbol;Acc:MGI:1860437]|Heterozygous|Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility.|T|C|81|35.0|Non-synonymous|Alive, Line Propagating
6522819|IGL01326|13|23698370|I->N|0.99|Probably damaging|MGI:2448421|Hist1h4c|histone cluster 1, H4c [Source:MGI Symbol;Acc:MGI:2448421]|Heterozygous||A|T|59|35.0|Non-synonymous|Alive, Line Propagating
6522820|IGL01326|1|195141221|Y->C|0.98|Probably damaging|MGI:88489|Cr2|complement receptor 2 [Source:MGI Symbol;Acc:MGI:88489]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation.|T|C|56|40.0|Non-synonymous|Alive, Line Propagating
6522821|IGL01326|3|138286911|V->M|1.0|Probably damaging|MGI:87921|Adh1|alcohol dehydrogenase 1 (class I) [Source:MGI Symbol;Acc:MGI:87921]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired metabolism of (and sensitivity to) ethanol and retinol.|G|A|51|36.0|Non-synonymous|Alive, Line Propagating
6522822|IGL01326|17|18316644|A->T|0.27|Benign|MGI:3645591|Vmn2r93|vomeronasal 2, receptor 93 [Source:MGI Symbol;Acc:MGI:3645591]|Heterozygous||G|A|48|39.0|Non-synonymous|Alive, Line Propagating
6522823|IGL01326|1|188263321|Y->Stop||N/A|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|T|A|47|38.0|Non-synonymous|Alive, Line Propagating
6522824|IGL01326|2|86047283|E->G|0.97|Probably damaging|MGI:3030868|Olfr1034|olfactory receptor 1034 [Source:MGI Symbol;Acc:MGI:3030868]|Heterozygous||A|G|45|39.0|Non-synonymous|Alive, Line Propagating
6522825|IGL01326|11|50265888|P->S|0.29|Benign|MGI:1890504|Maml1|mastermind like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890504]|Heterozygous|Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis.|G|A|44|37.0|Non-synonymous|Alive, Line Propagating
6522826|IGL01326|10|88433065|L->F|0.98|Probably damaging|MGI:3643902|Gnptab|N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [Source:MGI Symbol;Acc:MGI:3643902]|Heterozygous||G|T|41|41.0|Non-synonymous|Alive, Line Propagating
6522827|IGL01326|16|15829692|C->F||Benign|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|G|T|39|40.0|Non-synonymous|Alive, Line Propagating
6522828|IGL01326|5|143721215|T->A|0.39|Benign|MGI:1924050|Usp42|ubiquitin specific peptidase 42 [Source:MGI Symbol;Acc:MGI:1924050]|Heterozygous||T|C|38|37.0|Non-synonymous|Alive, Line Propagating
6522829|IGL01326|6|58472799|I->T|||MGI:3649162|Vmn1r31|vomeronasal 1 receptor 31 [Source:MGI Symbol;Acc:MGI:3649162]|Heterozygous||A|G|36|41.0|Non-synonymous|Alive, Line Propagating
6522830|IGL01326|4|55383601|F->I|1.0|Probably damaging|MGI:105128|Rad23b|RAD23b homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105128]|Heterozygous|Mice homozygous for a disruption in this gene usually die around the time of birth. Those that survive show growth retardation, eye, reproductive, behavioral, and digestive system abnormalities. They usually die within 1 year of birth.|T|A|35|40.0|Non-synonymous|Alive, Line Propagating
6522831|IGL01326|11|115390970|R->S|0.05|Benign|MGI:2684867|Cdr2l|cerebellar degeneration-related protein 2-like [Source:MGI Symbol;Acc:MGI:2684867]|Heterozygous||G|T|32|38.0|Non-synonymous|Alive, Line Propagating
6522832|IGL01326|15|101274059|L->R|1.0|Probably damaging|MGI:1352454|Nr4a1|nuclear receptor subfamily 4, group A, member 1 [Source:MGI Symbol;Acc:MGI:1352454]|Heterozygous|Mice homozygous for a targeted null mutation are viable, fertile, and display a normal HPA axis function, as well as normal thymic and peripheral T cell deletion.|T|G|32|39.0|Non-synonymous|Alive, Line Propagating
6522833|IGL01326|18|84622232|T->S|0.01|Benign|MGI:2451097|Cndp1|carnosine dipeptidase 1 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:2451097]|Heterozygous||T|A|32|39.5|Non-synonymous|Alive, Line Propagating
6522834|IGL01326|4|48218126|V->A|0.46|Possibly damaging|MGI:1923549|Erp44|endoplasmic reticulum protein 44 [Source:MGI Symbol;Acc:MGI:1923549]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6522835|IGL01326|7|82648405|I->V||Benign|MGI:1914618|Fam154b|family with sequence similarity 154, member B [Source:MGI Symbol;Acc:MGI:1914618]|Heterozygous||T|C|31|35.0|Non-synonymous|Alive, Line Propagating
6522836|IGL01326|2|66752260|I->V|0.54|Possibly damaging|MGI:102965|Scn7a|sodium channel, voltage-gated, type VII, alpha [Source:MGI Symbol;Acc:MGI:102965]|Heterozygous|Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise.|T|C|30|39.0|Non-synonymous|Alive, Line Propagating
6522837|IGL01326|19|40597436|L->P|0.97|Probably damaging|MGI:1914840|Tctn3|tectonic family member 3 [Source:MGI Symbol;Acc:MGI:1914840]|Heterozygous||A|G|29|37.0|Non-synonymous|Alive, Line Propagating
6522838|IGL01326|5|121143136|D->G|1.0|Probably damaging|MGI:99511|Ptpn11|protein tyrosine phosphatase, non-receptor type 11 [Source:MGI Symbol;Acc:MGI:99511]|Heterozygous|Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation.|T|C|28|39.0|Non-synonymous|Alive, Line Propagating
6522839|IGL01326|12|105622144|A->T|1.0|Probably damaging|MGI:1923809|Atg2b|autophagy related 2B [Source:MGI Symbol;Acc:MGI:1923809]|Heterozygous||C|T|25|39.0|Non-synonymous|Alive, Line Propagating
6522840|IGL01326|1|32657477|L->R|0.94|Possibly damaging|MGI:2159649|Khdrbs2|KH domain containing, RNA binding, signal transduction associated 2 [Source:MGI Symbol;Acc:MGI:2159649]|Heterozygous||T|G|22|39.0|Non-synonymous|Alive, Line Propagating
6522841|IGL01326|10|127064623|D->G||Benign|MGI:88357|Cdk4|cyclin-dependent kinase 4 [Source:MGI Symbol;Acc:MGI:88357]|Heterozygous|Homozygous null mutants have small size, insulin-deficient diabetes, sterility in females; near-sterility in males and impaired prolactin secretion due to hypoplastic pituitary development. Locomotor and endocrine gland defects are seen with some alleles.|A|G|21|40.0|Non-synonymous|Alive, Line Propagating
6522842|IGL01326|17|24576174|Y->Stop||N/A|MGI:97603|Pkd1|polycystic kidney disease 1 homolog [Source:MGI Symbol;Acc:MGI:97603]|Heterozygous|Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.|T|A|20|39.0|Non-synonymous|Alive, Line Propagating
6522843|IGL01326|3|33801358|I->V|||MGI:1914370|Ttc14|tetratricopeptide repeat domain 14 [Source:MGI Symbol;Acc:MGI:1914370]|Heterozygous||A|G|20|40.0|Non-synonymous|Alive, Line Propagating
6522844|IGL01326|12|25038499|H->Q|0.97|Probably damaging|MGI:1924730|Kidins220|kinase D-interacting substrate 220 [Source:MGI Symbol;Acc:MGI:1924730]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons.|C|A|19|37.0|Non-synonymous|Alive, Line Propagating
6522845|IGL01326|4|104856420|Y->C|1.0|Probably damaging|MGI:2668347|C8a|complement component 8, alpha polypeptide [Source:MGI Symbol;Acc:MGI:2668347]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive, Line Propagating
6522846|IGL01326|15|47849785|F->L||Benign|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||A|G|18|40.0|Non-synonymous|Alive, Line Propagating
6522847|IGL01326|19|10791102|S->P|0.99|Probably damaging|MGI:103566|Cd6|CD6 antigen [Source:MGI Symbol;Acc:MGI:103566]|Heterozygous||A|G|18|39.0|Non-synonymous|Alive, Line Propagating
6522848|IGL01326|8|111182573|V->A|1.0|Probably damaging|MGI:104967|Glg1|golgi apparatus protein 1 [Source:MGI Symbol;Acc:MGI:104967]|Heterozygous|Mice homozygous for a knock-out allele show reduced body size, narrow rib cages, short and thin bony elements, decreased chondrocyte proliferation and reduced epiphyseal growth plates. Mice homozygous for a gene trapped allele show postnatal death, small body size, distorted tails and cleft palate.|A|G|16|39.0|Non-synonymous|Alive, Line Propagating
6522849|IGL01326|2|89406331|F->L|1.0|Probably damaging|MGI:3031072|Olfr1238|olfactory receptor 1238 [Source:MGI Symbol;Acc:MGI:3031072]|Heterozygous||A|T|15|40.0|Non-synonymous|Alive, Line Propagating
6522850|IGL01326|4|62323250|S->P|0.98|Probably damaging|MGI:2444782|Fkbp15|FK506 binding protein 15 [Source:MGI Symbol;Acc:MGI:2444782]|Heterozygous||A|G|15|40.0|Non-synonymous|Alive, Line Propagating
6522851|IGL01326|7|48021769|C->S|0.02|Benign|MGI:3033139|Mrgprx1|MAS-related GPR, member X1 [Source:MGI Symbol;Acc:MGI:3033139]|Heterozygous||A|T|15|40.0|Non-synonymous|Alive, Line Propagating
6522852|IGL01326|11|3681775|R->C|0.99|Probably damaging|MGI:1921772|Morc2a|microrchidia 2A [Source:MGI Symbol;Acc:MGI:1921772]|Heterozygous||C|T|13|37.0|Non-synonymous|Alive, Line Propagating
6522853|IGL01326|2|32672382|G->W|0.03|Benign|MGI:95392|Eng|endoglin [Source:MGI Symbol;Acc:MGI:95392]|Heterozygous|Homozygotes for targeted null mutations show defective vascular development, extra-arterial hematopoiesis, cardiac defects and die by embryonic day 11.0. Heterozygotes develop hemorrhagic telangiectasia causing strokes, fatal hemorrhage and heart failure.|G|T|13|37.0|Non-synonymous|Alive, Line Propagating
6522854|IGL01326|2|14266524|Q->R|1.0|Probably damaging|MGI:97142|Mrc1|mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]|Heterozygous|Male homozygotes for one targeted null mutation are reported to die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable.|A|G|12|38.0|Non-synonymous|Alive, Line Propagating
6522855|IGL01326|3|108979785|V->A|0.75|Possibly damaging|MGI:3036259|Fam102b|family with sequence similarity 102, member B [Source:MGI Symbol;Acc:MGI:3036259]|Heterozygous||A|G|12|39.5|Non-synonymous|Alive, Line Propagating
6522856|IGL01326|7|75725348|H->Q|0.04|Benign|MGI:2676556|Akap13|A kinase (PRKA) anchor protein 13 [Source:MGI Symbol;Acc:MGI:2676556]|Heterozygous||T|A|12|38.0|Non-synonymous|Alive, Line Propagating
6522857|IGL01326|10|80524376|L->M|0.99|Probably damaging|MGI:1914581|Atp8b3|ATPase, class I, type 8B, member 3 [Source:MGI Symbol;Acc:MGI:1914581]|Heterozygous|Litters sired by homozygous mutant mice are smaller than those sired by wild-type males. While sperm morphology and motility is intact in null sperm, fertilization rates are reduced due to impaired sperm-egg interactions.|G|T|10|39.5|Non-synonymous|Alive, Line Propagating
6522858|IGL01326|9|86598718|Disrupted splicing|||MGI:97043|Me1|malic enzyme 1, NADP(+)-dependent, cytosolic [Source:MGI Symbol;Acc:MGI:97043]|Heterozygous||C|T|71|40.0|Splice|Alive, Line Propagating
6522859|IGL01326|11|80684321|Disrupted splicing|||MGI:107728|Myo1d|myosin ID [Source:MGI Symbol;Acc:MGI:107728]|Heterozygous||A|T|43|40.0|Splice|Alive, Line Propagating
6522860|IGL01326|8|117573999|Disrupted splicing|||MGI:97616|Plcg2|phospholipase C, gamma 2 [Source:MGI Symbol;Acc:MGI:97616]|Heterozygous|Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels.|T|C|34|39.0|Splice|Alive, Line Propagating
6522861|IGL01326|7|140864093|Disrupted splicing|||MGI:1927665|Sirt3|sirtuin 3 (silent mating type information regulation 2, homolog) 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1927665]|Heterozygous|Mice homozygous for one null allele exhibit increased systolic blood pressure while mice homozygous for another allele exhibit reduced ATP production.|A|G|31|40.0|Splice|Alive, Line Propagating
6522862|IGL01326|1|184833851|Disrupted splicing|||MGI:1914497|Mosc2|MOCO sulphurase C-terminal domain containing 2 [Source:MGI Symbol;Acc:MGI:1914497]|Heterozygous||T|C|26|38.0|Splice|Alive, Line Propagating
6522863|IGL01326|17|6074253|Disrupted splicing|||MGI:2447813|Serac1|serine active site containing 1 [Source:MGI Symbol;Acc:MGI:2447813]|Heterozygous||T|A|21|40.0|Splice|Alive, Line Propagating
6523489|IGL01327|11|70526586|S->R|0.7|Possibly damaging|MGI:104880|Psmb6|proteasome (prosome, macropain) subunit, beta type 6 [Source:MGI Symbol;Acc:MGI:104880]|Heterozygous||T|A|107|38.0|Non-synonymous|Alive
6523490|IGL01327|7|79694461|T->I|0.45|Possibly damaging|MGI:1924261|Ticrr|TOPBP1-interacting checkpoint and replication regulator [Source:MGI Symbol;Acc:MGI:1924261]|Heterozygous||C|T|90|38.0|Non-synonymous|Alive
6523491|IGL01327|9|58152571|D->G|0.15|Benign|MGI:107742|Stra6|stimulated by retinoic acid gene 6 [Source:MGI Symbol;Acc:MGI:107742]|Heterozygous||A|G|89|36.0|Non-synonymous|Alive
6523492|IGL01327|14|7090701|W->R|||MGI:3781872|Gm3696|predicted gene 3696 [Source:MGI Symbol;Acc:MGI:3781872]|Heterozygous||A|T|87|37.0|Non-synonymous|Alive
6523493|IGL01327|7|45159975|S->P||Benign|MGI:1916095|Pih1d1|PIH1 domain containing 1 [Source:MGI Symbol;Acc:MGI:1916095]|Heterozygous||T|C|82|39.0|Non-synonymous|Alive
6523494|IGL01327|11|74364912|M->K|0.68|Possibly damaging|MGI:3030246|Olfr412|olfactory receptor 412 [Source:MGI Symbol;Acc:MGI:3030246]|Heterozygous||T|A|73|40.0|Non-synonymous|Alive
6523495|IGL01327|6|42434750|H->Q|0.27|Benign|MGI:2681273|Tas2r126|taste receptor, type 2, member 126 [Source:MGI Symbol;Acc:MGI:2681273]|Heterozygous||T|A|71|38.0|Non-synonymous|Alive
6523496|IGL01327|11|108397361|Y->D|1.0|Probably damaging|MGI:88058|Apoh|apolipoprotein H [Source:MGI Symbol;Acc:MGI:88058]|Heterozygous|Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses.|T|G|66|39.0|Non-synonymous|Alive
6523497|IGL01327|2|28557955|D->A|0.34|Benign|MGI:88374|Cel|carboxyl ester lipase [Source:MGI Symbol;Acc:MGI:88374]|Heterozygous|Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption.|T|G|64|38.0|Non-synonymous|Alive
6523498|IGL01327|11|70254549|H->L|0.02|Benign|MGI:87998|Alox12|arachidonate 12-lipoxygenase [Source:MGI Symbol;Acc:MGI:87998]|Heterozygous|Homozygotes for a targeted null mutation exhibit increased basal transepidermal water loss and hypersensitivity to adenosine 5'-diphosphate-induced platelet aggregation and mortality.|T|A|59|37.0|Non-synonymous|Alive
6523499|IGL01327|11|115821712|Y->H|0.28|Benign|MGI:1923515|Tsen54|tRNA splicing endonuclease 54 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1923515]|Heterozygous||T|C|56|35.0|Non-synonymous|Alive
6523500|IGL01327|14|42294665|T->A|1.0|Probably damaging|MGI:3780019|Gm9611|predicted gene 9611 [Source:MGI Symbol;Acc:MGI:3780019]|Heterozygous||T|C|55|39.0|Non-synonymous|Alive
6523501|IGL01327|5|105812265|S->R|1.0|Probably damaging|MGI:1922368|Lrrc8d|leucine rich repeat containing 8D [Source:MGI Symbol;Acc:MGI:1922368]|Heterozygous||T|A|55|39.0|Non-synonymous|Alive
6523502|IGL01327|X|7931774|M->V||Benign|MGI:1333752|Hdac6|histone deacetylase 6 [Source:MGI Symbol;Acc:MGI:1333752]|Heterozygous|Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density.|T|C|48|40.0|Non-synonymous|Alive
6523503|IGL01327|2|130437696|Y->F|||MGI:2136772|Vps16|vacuolar protein sorting 16 (yeast) [Source:MGI Symbol;Acc:MGI:2136772]|Heterozygous||A|T|46|38.0|Non-synonymous|Alive
6523504|IGL01327|5|140718208|Q->Stop||N/A|MGI:1891679|Baat1|BRCA1-associated ATM activator 1 [Source:MGI Symbol;Acc:MGI:1891679]|Heterozygous||C|T|46|36.0|Non-synonymous|Alive
6523505|IGL01327|7|27355251|I->V|0.99|Probably damaging|MGI:2385803|Shkbp1|Sh3kbp1 binding protein 1 [Source:MGI Symbol;Acc:MGI:2385803]|Heterozygous||T|C|46|36.5|Non-synonymous|Alive
6523506|IGL01327|X|140937680|V->E|||MGI:1926039|Vsig1|V-set and immunoglobulin domain containing 1 [Source:MGI Symbol;Acc:MGI:1926039]|Heterozygous||T|A|44|37.5|Non-synonymous|Alive
6523507|IGL01327|13|21347207|N->S||Benign|MGI:3031201|Olfr1367|olfactory receptor 1367 [Source:MGI Symbol;Acc:MGI:3031201]|Heterozygous||A|G|43|39.0|Non-synonymous|Alive
6523508|IGL01327|9|37653112|R->Q||Benign|MGI:1100877|Tbrg1|transforming growth factor beta regulated gene 1 [Source:MGI Symbol;Acc:MGI:1100877]|Heterozygous||C|T|43|37.0|Non-synonymous|Alive
6523509|IGL01327|10|105348479|N->K|0.02|Benign|MGI:1914057|Tmtc2|transmembrane and tetratricopeptide repeat containing 2 [Source:MGI Symbol;Acc:MGI:1914057]|Heterozygous||A|T|41|40.0|Non-synonymous|Alive
6523510|IGL01327|16|5087644|N->D|||MGI:1194898|Ppl|periplakin [Source:MGI Symbol;Acc:MGI:1194898]|Heterozygous|Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities.|T|C|39|39.0|Non-synonymous|Alive
6523511|IGL01327|3|121527193|G->D|||MGI:2384860|Slc44a3|solute carrier family 44, member 3 [Source:MGI Symbol;Acc:MGI:2384860]|Heterozygous||C|T|39|39.0|Non-synonymous|Alive
6523512|IGL01327|13|59645144|N->K|0.83|Possibly damaging|MGI:1917329|Golm1|golgi membrane protein 1 [Source:MGI Symbol;Acc:MGI:1917329]|Heterozygous|Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis.|G|T|37|37.0|Non-synonymous|Alive
6523513|IGL01327|2|32386018|Y->S|0.86|Possibly damaging|MGI:96757|Lcn2|lipocalin 2 [Source:MGI Symbol;Acc:MGI:96757]|Heterozygous|Homozygous mutants are more susceptible to infection with bacteria that utilize enterochelin-type siderophores to acquire iron. Mice homozygous for another knock-out allele exhibit apoptotic defects in hematopoietic cells.|T|G|37|39.0|Non-synonymous|Alive
6523514|IGL01327|10|76710979|T->K||Unknown|MGI:88459|Col6a1|collagen, type VI, alpha 1 [Source:MGI Symbol;Acc:MGI:88459]|Heterozygous|Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis.|G|T|36|41.0|Non-synonymous|Alive
6523515|IGL01327|4|49490338|K->Q|0.99|Probably damaging|MGI:106642|Baat|bile acid-Coenzyme A: amino acid N-acyltransferase [Source:MGI Symbol;Acc:MGI:106642]|Heterozygous||T|G|36|40.0|Non-synonymous|Alive
6523516|IGL01327|8|124878633|L->H|1.0|Probably damaging|MGI:1343460|Gnpat|glyceronephosphate O-acyltransferase [Source:MGI Symbol;Acc:MGI:1343460]|Heterozygous|Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived.|T|A|36|38.0|Non-synonymous|Alive
6523517|IGL01327|16|92320773|Y->C|0.03|Benign|MGI:1922578|4930563d23rik|RIKEN cDNA 4930563D23 gene [Source:MGI Symbol;Acc:MGI:1922578]|Heterozygous||T|C|35|39.0|Non-synonymous|Alive
6523518|IGL01327|9|107907844|P->S|0.64|Possibly damaging|MGI:99614|Mst1r|macrophage stimulating 1 receptor (c-met-related tyrosine kinase) [Source:MGI Symbol;Acc:MGI:99614]|Heterozygous|This locus controls susceptibility to splenomegaly or spleen focus formation induced by inoculation with Friend leukemia virus.|C|T|34|37.5|Non-synonymous|Alive
6523519|IGL01327|1|40629405|D->A|0.03|Benign|MGI:105074|Slc9a4|solute carrier family 9 (sodium/hydrogen exchanger), member 4 [Source:MGI Symbol;Acc:MGI:105074]|Heterozygous|Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells.|A|C|32|35.0|Non-synonymous|Alive
6523520|IGL01327|X|101318622|V->A|0.07|Benign|MGI:2444609|Nlgn3|neuroligin 3 [Source:MGI Symbol;Acc:MGI:2444609]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired context and cued conditioning, hyperactivity, abnormal social investigation, abnormal vocalization, decreased brain size, and impaired olfaction.|T|C|31|36.0|Non-synonymous|Alive
6523521|IGL01327|6|128327634|T->M|0.93|Possibly damaging|MGI:1329045|Tulp3|tubby-like protein 3 [Source:MGI Symbol;Acc:MGI:1329045]|Heterozygous|Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos.|G|A|30|36.5|Non-synonymous|Alive
6523522|IGL01327|2|145602558|I->N|0.07|Benign|MGI:2137513|Slc24a3|solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 [Source:MGI Symbol;Acc:MGI:2137513]|Heterozygous||T|A|28|37.5|Non-synonymous|Alive
6523523|IGL01327|3|88910632|H->L||Benign|MGI:2385175|Msto1|misato homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2385175]|Heterozygous||T|A|27|35.0|Non-synonymous|Alive
6523524|IGL01327|5|77006554|V->A|0.09|Benign|MGI:1915496|Arl9|ADP-ribosylation factor-like 9 [Source:MGI Symbol;Acc:MGI:1915496]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive
6523525|IGL01327|7|30713250|I->N|0.98|Probably damaging|MGI:88113|Atp4a|ATPase, H+/K+ exchanging, gastric, alpha polypeptide [Source:MGI Symbol;Acc:MGI:88113]|Heterozygous|Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells.|T|A|27|38.0|Non-synonymous|Alive
6523526|IGL01327|9|108498961|L->S|0.21|Benign|MGI:1918722|Usp19|ubiquitin specific peptidase 19 [Source:MGI Symbol;Acc:MGI:1918722]|Heterozygous||T|C|26|40.0|Non-synonymous|Alive
6523527|IGL01327|9|71285966|F->I|0.97|Probably damaging|MGI:107928|Aldh1a2|aldehyde dehydrogenase family 1, subfamily A2 [Source:MGI Symbol;Acc:MGI:107928]|Heterozygous|Homozygotes for null mutations are largely devoid of retinoic acid and die by embryonic day 10.5 with impaired hindbrain development, failure to turn, lack of limb buds, heart abnormalities, reduced otocysts and a truncated frontonasal region.|T|A|25|33.0|Non-synonymous|Alive
6523528|IGL01327|2|25499077|F->L|1.0|Probably damaging|MGI:88237|C8g|complement component 8, gamma polypeptide [Source:MGI Symbol;Acc:MGI:88237]|Heterozygous||A|G|24|39.0|Non-synonymous|Alive
6523529|IGL01327|4|147945064|V->E|1.0|Probably damaging|MGI:1924284|2510039o18rik|RIKEN cDNA 2510039O18 gene [Source:MGI Symbol;Acc:MGI:1924284]|Heterozygous||T|A|24|38.0|Non-synonymous|Alive
6523530|IGL01327|11|101203436|C->Y||Benign|MGI:1097695|Ezh1|enhancer of zeste homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1097695]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile, and healthy.|C|T|23|39.0|Non-synonymous|Alive
6523531|IGL01327|4|123509912|N->D|||MGI:108559|Macf1|microtubule-actin crosslinking factor 1 [Source:MGI Symbol;Acc:MGI:108559]|Heterozygous|Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality.|T|C|23|37.0|Non-synonymous|Alive
6523532|IGL01327|7|55979661|I->V|0.01|Benign|MGI:2442058|Nipa1|non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:2442058]|Heterozygous||T|C|22|39.5|Non-synonymous|Alive
6523533|IGL01327|7|119720702|G->R|0.05|Benign|MGI:2444479|Thumpd1|THUMP domain containing 1 [Source:MGI Symbol;Acc:MGI:2444479]|Heterozygous||C|T|20|36.0|Non-synonymous|Alive
6523534|IGL01327|X|96314972|M->L||Benign|MGI:3045337|Hsf3|heat shock transcription factor 3 [Source:MGI Symbol;Acc:MGI:3045337]|Heterozygous||T|A|19|40.0|Non-synonymous|Alive
6523535|IGL01327|4|130730543|Q->K|0.96|Probably damaging|MGI:1931749|Pum1|pumilio 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1931749]|Heterozygous||C|A|18|39.0|Non-synonymous|Alive
6523536|IGL01327|7|45315073|W->C|1.0|Probably damaging|MGI:1915917|Trpm4|transient receptor potential cation channel, subfamily M, member 4 [Source:MGI Symbol;Acc:MGI:1915917]|Heterozygous|Mice homozygous for a knock-out allele display increased Ca2+ influx and IgE-dependent mast cell activation, increased vascular permeability, and enhanced acute anaphylactic responses. Mice homozygous for a different knock-out allele show Ca2+ overload and impaired dendritic cell migration.|C|A|16|37.5|Non-synonymous|Alive
6523537|IGL01327|2|130396357|L->P||Benign|MGI:1934569|Cpxm1|carboxypeptidase X 1 (M14 family) [Source:MGI Symbol;Acc:MGI:1934569]|Heterozygous||A|G|12|37.0|Non-synonymous|Alive
6523538|IGL01327|11|118193613|Disrupted splicing|||MGI:1334257|Cyth1|cytohesin 1 [Source:MGI Symbol;Acc:MGI:1334257]|Heterozygous|Mice honozygous for a gene trap allele exhibit normal brain morphology and long term potentiation.|A|G|115|37.0|Splice|Alive
6523539|IGL01327|14|51805709|Disrupted splicing|||MGI:2682312|Ay358078|cDNA sequence AY358078 [Source:MGI Symbol;Acc:MGI:2682312]|Heterozygous||T|A|81|37.0|Splice|Alive
6523540|IGL01327|9|75187538|Disrupted splicing|||MGI:105976|Myo5a|myosin VA [Source:MGI Symbol;Acc:MGI:105976]|Heterozygous|Mutations in this gene cause abnormal melanocyte structure, resulting in clumping of melanin pigment in hair of nonagouti mice, producing a gray coat color. Some alleles also produce a lethal or neurological phenotype. Normal melanocyte structure and coat phenotype is restored in revertant alleles.|T|A|60|39.0|Splice|Alive
6523541|IGL01327|1|170788606|Disrupted splicing|||MGI:1926157|Atf6|activating transcription factor 6 [Source:MGI Symbol;Acc:MGI:1926157]|Heterozygous|Mice homozygous for a null allele exhibit increased sensitivity to dithiothreitol, thapsigargin, and tunicamycin.|A|G|49|39.0|Splice|Alive
6523542|IGL01327|13|61162675|Disrupted splicing|||MGI:1861723|Ctsr|cathepsin R [Source:MGI Symbol;Acc:MGI:1861723]|Heterozygous||A|G|49|39.0|Splice|Alive
6523543|IGL01327|15|75565099|Disrupted splicing|||MGI:1346030|Ly6h|lymphocyte antigen 6 complex, locus H [Source:MGI Symbol;Acc:MGI:1346030]|Heterozygous||A|G|40|35.5|Splice|Alive
6523544|IGL01327|8|88318790|Disrupted splicing|||MGI:102891|Adcy7|adenylate cyclase 7 [Source:MGI Symbol;Acc:MGI:102891]|Heterozygous|Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors.|T|G|24|37.0|Splice|Alive
6523545|IGL01327|12|110616692|Disrupted splicing|||MGI:103147|Dync1h1|dynein cytoplasmic 1 heavy chain 1 [Source:MGI Symbol;Acc:MGI:103147]|Heterozygous|Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.|A|T|17|34.0|Splice|Alive
6523546|IGL01327|11|114781799|Disrupted splicing|||MGI:2447024|Kif19a|kinesin family member 19A [Source:MGI Symbol;Acc:MGI:2447024]|Heterozygous||C|T|15|36.0|Splice|Alive
6524171|IGL01328|15|37981523|E->G|0.16|Benign|MGI:1918040|Ubr5|ubiquitin protein ligase E3 component n-recognin 5 [Source:MGI Symbol;Acc:MGI:1918040]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis.|T|C|546|37.0|Non-synonymous|Alive, Line Propagating
6524172|IGL01328|17|18325557|T->A||Benign|MGI:3645591|Vmn2r93|vomeronasal 2, receptor 93 [Source:MGI Symbol;Acc:MGI:3645591]|Heterozygous||A|G|328|39.0|Non-synonymous|Alive, Line Propagating
6524173|IGL01328|10|130452496|T->A|||MGI:3649066|Vmn2r86|vomeronasal 2, receptor 86 [Source:MGI Symbol;Acc:MGI:3649066]|Heterozygous||T|C|203|40.0|Non-synonymous|Alive, Line Propagating
6524174|IGL01328|1|78471092|I->V||Benign|MGI:1346035|Farsb|phenylalanyl-tRNA synthetase, beta subunit [Source:MGI Symbol;Acc:MGI:1346035]|Heterozygous||T|C|174|40.0|Non-synonymous|Alive, Line Propagating
6524175|IGL01328|2|87309581|L->Q|0.42|Benign|MGI:3030952|Olfr1118|olfactory receptor 1118 [Source:MGI Symbol;Acc:MGI:3030952]|Heterozygous||T|A|160|39.5|Non-synonymous|Alive, Line Propagating
6524176|IGL01328|2|181995880|Y->C|||MGI:3769929|Gm14496|predicted gene 14496 [Source:MGI Symbol;Acc:MGI:3769929]|Heterozygous||A|G|145|40.0|Non-synonymous|Alive, Line Propagating
6524177|IGL01328|2|102400020|E->V|0.77|Possibly damaging|MGI:1931835|Trim44|tripartite motif-containing 44 [Source:MGI Symbol;Acc:MGI:1931835]|Heterozygous||T|A|138|37.0|Non-synonymous|Alive, Line Propagating
6524178|IGL01328|2|111409219|Y->C|1.0|Probably damaging|MGI:3031119|Olfr1285|olfactory receptor 1285 [Source:MGI Symbol;Acc:MGI:3031119]|Heterozygous||A|G|127|39.0|Non-synonymous|Alive, Line Propagating
6524179|IGL01328|6|42318272|L->F|0.96|Probably damaging|MGI:1923406|Fam131b|family with sequence similarity 131, member B [Source:MGI Symbol;Acc:MGI:1923406]|Heterozygous||G|A|119|39.0|Non-synonymous|Alive, Line Propagating
6524180|IGL01328|2|90139074|K->E|0.04|Benign|MGI:109303|Olfr32|olfactory receptor 32 [Source:MGI Symbol;Acc:MGI:109303]|Heterozygous||T|C|116|40.0|Non-synonymous|Alive, Line Propagating
6524182|IGL01328|16|48972258|D->E|0.99|Probably damaging|MGI:1917433|Dzip3|DAZ interacting protein 3, zinc finger [Source:MGI Symbol;Acc:MGI:1917433]|Heterozygous||A|T|106|39.0|Non-synonymous|Alive, Line Propagating
6524183|IGL01328|7|44055879|S->P|1.0|Probably damaging|MGI:891980|Klk1b27|kallikrein 1-related peptidase b27 [Source:MGI Symbol;Acc:MGI:891980]|Heterozygous||T|C|106|38.0|Non-synonymous|Alive, Line Propagating
6524184|IGL01328|13|97970323|C->S|||MGI:1346016|Rgnef|Rho-guanine nucleotide exchange factor [Source:MGI Symbol;Acc:MGI:1346016]|Heterozygous||A|T|103|37.0|Non-synonymous|Alive, Line Propagating
6524185|IGL01328|6|129379554|W->R|1.0|Probably damaging|MGI:1918433|Clec12b|C-type lectin domain family 12, member B [Source:MGI Symbol;Acc:MGI:1918433]|Heterozygous||A|T|89|35.0|Non-synonymous|Alive, Line Propagating
6524186|IGL01328|2|52464625|H->R|0.52|Possibly damaging|MGI:103301|Cacnb4|calcium channel, voltage-dependent, beta 4 subunit [Source:MGI Symbol;Acc:MGI:103301]|Heterozygous|Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency.|T|C|82|39.0|Non-synonymous|Alive, Line Propagating
6524187|IGL01328|3|5244284|L->M|0.99|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||C|A|78|39.0|Non-synonymous|Alive, Line Propagating
6524188|IGL01328|2|102642137|S->T||Benign|MGI:2445082|Pamr1|peptidase domain containing associated with muscle regeneration 1 [Source:MGI Symbol;Acc:MGI:2445082]|Heterozygous||T|A|75|38.0|Non-synonymous|Alive, Line Propagating
6524189|IGL01328|2|126164819|I->V|0.84|Possibly damaging|MGI:1916435|Dtwd1|DTW domain containing 1 [Source:MGI Symbol;Acc:MGI:1916435]|Heterozygous||A|G|74|40.0|Non-synonymous|Alive, Line Propagating
6524190|IGL01328|3|121361583|V->I|0.89|Possibly damaging|MGI:1914039|Alg14|asparagine-linked glycosylation 14 [Source:MGI Symbol;Acc:MGI:1914039]|Heterozygous||G|A|71|37.0|Non-synonymous|Alive, Line Propagating
6524191|IGL01328|6|129698837|S->G|1.0|Probably damaging|MGI:3530275|Klri1|killer cell lectin-like receptor family I member 1 [Source:MGI Symbol;Acc:MGI:3530275]|Heterozygous||T|C|71|39.0|Non-synonymous|Alive, Line Propagating
6524192|IGL01328|1|70729004|C->S|1.0|Probably damaging|MGI:2444069|Vwc2l|von Willebrand factor C domain-containing protein 2-like [Source:MGI Symbol;Acc:MGI:2444069]|Heterozygous||T|A|66|37.0|Non-synonymous|Alive, Line Propagating
6524193|IGL01328|7|24101479|D->G|0.02|Benign|MGI:1923701|Zfp180|zinc finger protein 180 [Source:MGI Symbol;Acc:MGI:1923701]|Heterozygous||A|G|66|38.0|Non-synonymous|Alive, Line Propagating
6524194|IGL01328|3|75093075|K->Stop||N/A|MGI:2674085|Zbbx|zinc finger, B-box domain containing [Source:MGI Symbol;Acc:MGI:2674085]|Heterozygous||T|A|56|40.0|Non-synonymous|Alive, Line Propagating
6524195|IGL01328|9|13801927|G->Stop||N/A|MGI:1924366|Mtmr2|myotubularin related protein 2 [Source:MGI Symbol;Acc:MGI:1924366]|Heterozygous|Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium.|G|T|56|39.0|Non-synonymous|Alive, Line Propagating
6524196|IGL01328|3|38980658|F->I|1.0|Probably damaging|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||T|A|51|39.0|Non-synonymous|Alive, Line Propagating
6524197|IGL01328|8|33571396|Q->Stop||N/A|MGI:1934816|Tex15|testis expressed gene 15 [Source:MGI Symbol;Acc:MGI:1934816]|Heterozygous|Male mice are infertile due to arrest of meiosis stemming from failure to repair double-strand breaks. However, female mice are fertile.|C|T|49|40.0|Non-synonymous|Alive, Line Propagating
6524198|IGL01328|2|126088244|E->G|1.0|Probably damaging|MGI:1923073, MGI:95521|4930525f21rik,fgf7|fibroblast growth factor 7 [Source:MGI Symbol;Acc:MGI:95521],RIKEN cDNA 4930525F21 gene [Source:MGI Symbol;Acc:MGI:1923073]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE|A|G|46|39.0|Non-synonymous|Alive, Line Propagating
6524199|IGL01328|16|97455632|I->F|0.9|Possibly damaging|MGI:97243|Mx1|myxovirus (influenza virus) resistance 1 [Source:MGI Symbol;Acc:MGI:97243]|Heterozygous|A2G, SL/NiA, T9 and CAST/Ei strains produce the MX1 protein (Mx1+ allele) conferring resistance to myxoviruses, whereas no protein is made by the Mx1- susceptible alleles of C57BL/6J and many other inbred strains with an exon 9-11 deletion; or CBA/J, CE/J, I/LnJ and PERA/Ei with a nonsense mutation.|T|A|45|40.0|Non-synonymous|Alive, Line Propagating
6524200|IGL01328|11|106312755|V->A|0.17|Benign|MGI:96431|Cd79b|CD79B antigen [Source:MGI Symbol;Acc:MGI:96431]|Heterozygous|Homozygotes for targeted null mutations exhibit arrested development of B cells at the pro-B cell stage due to diminished signaling of the B cell receptor.|A|G|43|37.0|Non-synonymous|Alive, Line Propagating
6524201|IGL01328|3|38889991|V->E|0.43|Possibly damaging|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||T|A|42|39.0|Non-synonymous|Alive, Line Propagating
6524202|IGL01328|6|35078114|N->I|0.92|Possibly damaging|MGI:1859026|Cnot4|CCR4-NOT transcription complex, subunit 4 [Source:MGI Symbol;Acc:MGI:1859026]|Heterozygous||T|A|42|40.0|Non-synonymous|Alive, Line Propagating
6524203|IGL01328|2|119611833|M->R|0.71|Possibly damaging|MGI:1917895|Oip5|Opa interacting protein 5 [Source:MGI Symbol;Acc:MGI:1917895]|Heterozygous||A|C|40|39.5|Non-synonymous|Alive, Line Propagating
6524204|IGL01328|14|24202351|V->A|0.25|Benign|MGI:1918478|Dlg5|discs, large homolog 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918478]|Heterozygous|Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.|A|G|37|39.0|Non-synonymous|Alive, Line Propagating
6524205|IGL01328|14|69038277|D->G|0.08|Benign|MGI:109131|Stc1|stanniocalcin 1 [Source:MGI Symbol;Acc:MGI:109131]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|37|38.0|Non-synonymous|Alive, Line Propagating
6524206|IGL01328|8|11004792|Q->H|0.99|Probably damaging|MGI:109334|Irs2|insulin receptor substrate 2 [Source:MGI Symbol;Acc:MGI:109334]|Heterozygous||C|A|36|35.0|Non-synonymous|Alive, Line Propagating
6524207|IGL01328|2|147029930|V->A|0.73|Possibly damaging|MGI:894687|Xrn2|5'-3' exoribonuclease 2 [Source:MGI Symbol;Acc:MGI:894687]|Heterozygous||T|C|35|40.0|Non-synonymous|Alive, Line Propagating
6524208|IGL01328|8|71679620|R->C|1.0|Probably damaging|MGI:99928|Jak3|Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]|Heterozygous|Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.|C|T|35|35.0|Non-synonymous|Alive, Line Propagating
6524209|IGL01328|9|9781768|M->I|0.99|Probably damaging|MGI:3042287|Cntn5|contactin 5 [Source:MGI Symbol;Acc:MGI:3042287]|Heterozygous||C|T|35|40.0|Non-synonymous|Alive, Line Propagating
6524210|IGL01328|15|57986505|R->S|1.0|Probably damaging|MGI:2447773|Fam83a|family with sequence similarity 83, member A [Source:MGI Symbol;Acc:MGI:2447773]|Heterozygous||A|T|34|35.0|Non-synonymous|Alive, Line Propagating
6524211|IGL01328|4|151995828|E->K|0.03|Benign|MGI:2446217|Phf13|PHD finger protein 13 [Source:MGI Symbol;Acc:MGI:2446217]|Heterozygous||C|T|34|35.0|Non-synonymous|Alive, Line Propagating
6524212|IGL01328|15|51973124|D->V|1.0|Probably damaging|MGI:108016|Rad21|RAD21 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:108016]|Heterozygous|Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization.|T|A|31|39.0|Non-synonymous|Alive, Line Propagating
6524213|IGL01328|12|51761121|D->G|||MGI:2384768|Hectd1|HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]|Heterozygous|Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.|T|C|30|38.0|Non-synonymous|Alive, Line Propagating
6524214|IGL01328|2|63978872|T->A|0.57|Possibly damaging|MGI:1890647|Fign|fidgetin [Source:MGI Symbol;Acc:MGI:1890647]|Heterozygous|Homozygotes for a reporter allele show pre- and postnatal death, head-shaking, and small eyes. Spontaneous mutants show head-shaking, circling, reduced or absent semicircular canals, small abnormal eyes, aberrant cell-cycling, female sterility, and low prenetrance craniofacial and skeletal defects.|T|C|30|37.5|Non-synonymous|Alive, Line Propagating
6524215|IGL01328|18|59048882|S->F|1.0|Probably damaging|MGI:2442875|Adamts19|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19 [Source:MGI Symbol;Acc:MGI:2442875]|Heterozygous||C|T|29|40.0|Non-synonymous|Alive, Line Propagating
6524216|IGL01328|14|52372510|D->G|1.0|Probably damaging|MGI:3031346|Olfr1512|olfactory receptor 1512 [Source:MGI Symbol;Acc:MGI:3031346]|Heterozygous||T|C|26|37.0|Non-synonymous|Alive, Line Propagating
6524217|IGL01328|18|20048286|F->I|0.95|Possibly damaging|MGI:103221|Dsc2|desmocollin 2 [Source:MGI Symbol;Acc:MGI:103221]|Heterozygous||A|T|26|41.0|Non-synonymous|Alive, Line Propagating
6524218|IGL01328|3|152220218|G->E|1.0|Probably damaging|MGI:1196294|Fubp1|far upstream element (FUSE) binding protein 1 [Source:MGI Symbol;Acc:MGI:1196294]|Heterozygous||G|A|23|40.0|Non-synonymous|Alive, Line Propagating
6524219|IGL01328|13|100617803|N->K||Benign|MGI:1333807|Rad17|RAD17 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1333807]|Heterozygous|Homozygous null mice display embryonic lethality with incomplete somite formation, abnormal bracnchial arch, liver, and heart morphology, abnormal neural tube development, and multiple hemorrhages.|A|C|19|39.0|Non-synonymous|Alive, Line Propagating
6524220|IGL01328|1|133272336|K->Stop||N/A|MGI:2388662|Plekha6|pleckstrin homology domain containing, family A member 6 [Source:MGI Symbol;Acc:MGI:2388662]|Heterozygous||A|T|18|37.0|Non-synonymous|Alive, Line Propagating
6524221|IGL01328|5|38784528|S->N|0.92|Possibly damaging|MGI:1351468|Clnk|cytokine-dependent hematopoietic cell linker [Source:MGI Symbol;Acc:MGI:1351468]|Heterozygous||C|T|17|39.0|Non-synonymous|Alive, Line Propagating
6524222|IGL01328|18|11064530|M->I|0.79|Possibly damaging|MGI:107516|Gata6|GATA binding protein 6 [Source:MGI Symbol;Acc:MGI:107516]|Heterozygous|Homozygous null mutant E5.5 embryos lack parts of the visceral endoderm, show impaired embryonic ectoderm development, and die soon post-implantation, apparently of extraembryonic tissue defects.|G|T|16|40.0|Non-synonymous|Alive, Line Propagating
6524223|IGL01328|7|35186492|D->G|0.36|Benign|MGI:1858261|Slc7a10|solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 [Source:MGI Symbol;Acc:MGI:1858261]|Heterozygous|A targeted mutation of this gene results in mice that develop tremors, ataxia and seizures.|A|G|15|35.0|Non-synonymous|Alive, Line Propagating
6524224|IGL01328|7|49770949|Disrupted splicing|||MGI:1859271|Htatip2|HIV-1 tat interactive protein 2, homolog (human) [Source:MGI Symbol;Acc:MGI:1859271]|Heterozygous|Inactivation of this gene increases susceptibility to tumorigenesis.|T|A|38|38.0|Splice|Alive, Line Propagating
6524225|IGL01328|10|60367760|Disrupted splicing|||MGI:1890219, MGI:1921298|Cdh23,4632428n05rik|RIKEN cDNA 4632428N05 gene [Source:MGI Symbol;Acc:MGI:1921298],cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|NO_PHENOTYPE,Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|C|A|37|40.0|Splice|Alive, Line Propagating
6524226|IGL01328|1|139508082|Disrupted splicing|||MGI:88379|F13b|coagulation factor XIII, beta subunit [Source:MGI Symbol;Acc:MGI:88379]|Heterozygous||T|A|18|39.0|Splice|Alive, Line Propagating
6524227|IGL01328|7|51556271|Disrupted splicing|||MGI:3576659|Ano5|anoctamin 5 [Source:MGI Symbol;Acc:MGI:3576659]|Heterozygous||G|A|18|37.0|Splice|Alive, Line Propagating
6524852|IGL01329|12|52305855|V->A|0.99|Probably damaging|MGI:1924076|Nubpl|nucleotide binding protein-like [Source:MGI Symbol;Acc:MGI:1924076]|Heterozygous||T|C|251|39.0|Non-synonymous|Alive, Line Propagating
6524853|IGL01329|13|22592103|I->M|0.06|Benign|MGI:2159667|Vmn1r205|vomeronasal 1 receptor 205 [Source:MGI Symbol;Acc:MGI:2159667]|Heterozygous||T|C|199|40.0|Non-synonymous|Alive, Line Propagating
6524855|IGL01329|14|122690133|D->G|0.4|Benign|MGI:97499|Pcca|propionyl-Coenzyme A carboxylase, alpha polypeptide [Source:MGI Symbol;Acc:MGI:97499]|Heterozygous|Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts.|A|G|99|39.0|Non-synonymous|Alive, Line Propagating
6524856|IGL01329|4|114409125|V->A|0.86|Possibly damaging|MGI:3650152|Gm12824|predicted gene 12824 [Source:MGI Symbol;Acc:MGI:3650152]|Heterozygous||T|C|96|37.0|Non-synonymous|Alive, Line Propagating
6524857|IGL01329|2|86658207|N->D|||MGI:3030919|Olfr1085|olfactory receptor 1085 [Source:MGI Symbol;Acc:MGI:3030919]|Heterozygous||T|C|92|40.0|Non-synonymous|Alive, Line Propagating
6524858|IGL01329|7|46753472|D->G||Benign|MGI:98222|Saa2|serum amyloid A 2 [Source:MGI Symbol;Acc:MGI:98222]|Heterozygous|The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis.|A|G|83|36.0|Non-synonymous|Alive, Line Propagating
6524859|IGL01329|3|41748697|D->G||Benign|MGI:1289213|D3ertd751e|DNA segment, Chr 3, ERATO Doi 751, expressed [Source:MGI Symbol;Acc:MGI:1289213]|Heterozygous||A|G|80|39.0|Non-synonymous|Alive, Line Propagating
6524860|IGL01329|14|50083997|R->H|0.01|Benign|MGI:3030560|Olfr726|olfactory receptor 726 [Source:MGI Symbol;Acc:MGI:3030560]|Heterozygous||C|T|78|39.0|Non-synonymous|Alive, Line Propagating
6524861|IGL01329|2|25084346|K->R||Benign|MGI:1923275|Entpd8|ectonucleoside triphosphate diphosphohydrolase 8 [Source:MGI Symbol;Acc:MGI:1919340]|Heterozygous||A|G|77|38.0|Non-synonymous|Alive, Line Propagating
6524862|IGL01329|11|9068383|Stop->W||N/A|MGI:3651127|Gm11992|predicted gene 11992 [Source:MGI Symbol;Acc:MGI:3651127]|Heterozygous||A|G|70|40.0|Non-synonymous|Alive, Line Propagating
6524863|IGL01329|12|65158441|K->R|0.77|Possibly damaging|MGI:2145099|Mis18bp1|MIS18 binding protein 1 [Source:MGI Symbol;Acc:MGI:2145099]|Heterozygous||T|C|69|40.0|Non-synonymous|Alive, Line Propagating
6524864|IGL01329|15|71907040|V->A||Unknown|MGI:1916950|Col22a1|collagen, type XXII, alpha 1 [Source:MGI Symbol;Acc:MGI:1916950]|Heterozygous||A|G|68|37.0|Non-synonymous|Alive, Line Propagating
6524865|IGL01329|9|80322829|K->R|0.07|Benign|MGI:1926876|Impg1|interphotoreceptor matrix proteoglycan 1 [Source:MGI Symbol;Acc:MGI:1926876]|Heterozygous||T|C|63|37.0|Non-synonymous|Alive, Line Propagating
6524866|IGL01329|2|65717508|I->V||Benign|MGI:98248|Scn2a1|sodium channel, voltage-gated, type II, alpha 1 [Source:MGI Symbol;Acc:MGI:98248]|Heterozygous|Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.|A|G|57|39.0|Non-synonymous|Alive, Line Propagating
6524867|IGL01329|9|32424101|K->I|1.0|Probably damaging|MGI:95554|Fli1|Friend leukemia integration 1 [Source:MGI Symbol;Acc:MGI:95554]|Heterozygous|Mice homozygous for most knock-out allele exhibit abnormal hematopoietic and immune systems.|T|A|56|39.0|Non-synonymous|Alive, Line Propagating
6524868|IGL01329|5|61809938|V->A|||MGI:105977|G6pd2|glucose-6-phosphate dehydrogenase 2 [Source:MGI Symbol;Acc:MGI:105977]|Heterozygous||T|C|55|34.0|Non-synonymous|Alive, Line Propagating
6524869|IGL01329|1|133625862|M->V||Benign|MGI:1917829|Zc3h11a|zinc finger CCCH type containing 11A [Source:MGI Symbol;Acc:MGI:1917829]|Heterozygous||T|C|54|40.0|Non-synonymous|Alive, Line Propagating
6524870|IGL01329|9|106570633|K->E|0.07|Benign|MGI:1914570|Iqcf4|IQ motif containing F4 [Source:MGI Symbol;Acc:MGI:1914570]|Heterozygous||T|C|51|40.0|Non-synonymous|Alive, Line Propagating
6524871|IGL01329|9|7860732|Y->C|1.0|Probably damaging|MGI:1197009|Birc3|baculoviral IAP repeat-containing 3 [Source:MGI Symbol;Acc:MGI:1197007]|Heterozygous|Mice homozygous for disruptions in this gene have a reduced susceptibility to endotoxic shock. Mice homozygous for a knock-in allele exhibit increased B cell survival and proliferation, lymph node hyperplasia, lymphocytic infiltrates in the lungs, and enlarged gut-associated lympoid tissue.|T|C|50|38.0|Non-synonymous|Alive, Line Propagating
6524872|IGL01329|17|80644184|V->A||Benign|MGI:2154405|Map4k3|mitogen-activated protein kinase kinase kinase kinase 3 [Source:MGI Symbol;Acc:MGI:2154405]|Heterozygous||A|G|44|38.0|Non-synonymous|Alive, Line Propagating
6524873|IGL01329|4|145156206|I->N|0.14|Benign|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||A|T|41|39.0|Non-synonymous|Alive, Line Propagating
6524874|IGL01329|3|100095549|H->R|||MGI:1921612|Spag17|sperm associated antigen 17 [Source:MGI Symbol;Acc:MGI:1921612]|Heterozygous||A|G|39|38.0|Non-synonymous|Alive, Line Propagating
6524875|IGL01329|6|115782794|I->T|0.99|Probably damaging|MGI:1914338|Cand2|cullin-associated and neddylation-dissociated 2 (putative) [Source:MGI Symbol;Acc:MGI:1914338]|Heterozygous||T|C|35|37.0|Non-synonymous|Alive, Line Propagating
6524876|IGL01329|7|17745609|G->D|1.0|Probably damaging|MGI:1920500|Ceacam5|carcinoembryonic antigen-related cell adhesion molecule 5 [Source:MGI Symbol;Acc:MGI:1920500]|Heterozygous||G|A|35|37.0|Non-synonymous|Alive, Line Propagating
6524877|IGL01329|13|67294266|T->A|0.82|Possibly damaging|MGI:2664334|Zfp457|zinc finger protein 457 [Source:MGI Symbol;Acc:MGI:2664334]|Heterozygous||T|C|34|39.0|Non-synonymous|Alive, Line Propagating
6524878|IGL01329|5|30441379|S->P||Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|A|G|34|36.5|Non-synonymous|Alive, Line Propagating
6524879|IGL01329|16|94106260|Y->H|1.0|Probably damaging|MGI:98307|Sim2|single-minded homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:98307]|Heterozygous|Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.|T|C|30|37.0|Non-synonymous|Alive, Line Propagating
6524880|IGL01329|2|111872950|F->L||Benign|MGI:3031139|Olfr1305|olfactory receptor 1305 [Source:MGI Symbol;Acc:MGI:3031139]|Heterozygous||A|G|26|37.0|Non-synonymous|Alive, Line Propagating
6524881|IGL01329|7|120022941|I->V|1.0|Probably damaging|MGI:2683040|Dnahc3|dynein, axonemal, heavy chain 3 [Source:MGI Symbol;Acc:MGI:2683040]|Heterozygous||T|C|25|40.0|Non-synonymous|Alive, Line Propagating
6524882|IGL01329|10|93081523|H->L||Unknown|MGI:1922208, MGI:2685718|Gm872,4930485b16rik|predicted gene 872 [Source:MGI Symbol;Acc:MGI:2685718]|Heterozygous||T|A|24|39.5|Non-synonymous|Alive, Line Propagating
6524883|IGL01329|18|5064501|E->G||Benign|MGI:2147319|Svil|supervillin [Source:MGI Symbol;Acc:MGI:2147319]|Heterozygous||A|G|19|35.0|Non-synonymous|Alive, Line Propagating
6524884|IGL01329|12|112611856|E->Stop||N/A|MGI:1917685|Inf2|inverted formin, FH2 and WH2 domain containing [Source:MGI Symbol;Acc:MGI:1917685]|Heterozygous||G|T|16|40.0|Non-synonymous|Alive, Line Propagating
6524885|IGL01329|4|73727645|T->S|0.01|Benign|MGI:2448565|Rasef|RAS and EF hand domain containing [Source:MGI Symbol;Acc:MGI:2448565]|Heterozygous||T|A|15|39.0|Non-synonymous|Alive, Line Propagating
6524886|IGL01329|9|40092028|S->P|0.01|Benign|MGI:3030817|Olfr983|olfactory receptor 983 [Source:MGI Symbol;Acc:MGI:3030817]|Heterozygous||A|G|15|38.0|Non-synonymous|Alive, Line Propagating
6524887|IGL01329|8|122865323|Disrupted splicing|||MGI:5141853, MGI:106672|Cdh15,gm20388|cadherin 15 [Source:MGI Symbol;Acc:MGI:106672],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous|NO_PHENOTYPE,Homozygous null mice are viable, fertile, and show no apparent defects in the development, maintenance, or regeneration of skeletal muscle or in the cerebellum.|T|C|155|37.0|Splice|Alive, Line Propagating
6524888|IGL01329|5|105327616|Disrupted splicing|||MGI:3646307|Gbp11|guanylate binding protein 11 [Source:MGI Symbol;Acc:MGI:3646307]|Heterozygous||C|T|77|39.0|Splice|Alive, Line Propagating
6524889|IGL01329|5|139767503|Disrupted splicing|||MGI:1915760|Ints1|integrator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1915760]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.|A|G|40|39.5|Splice|Alive, Line Propagating
6524890|IGL01329|5|8894166|Disrupted splicing|||MGI:97569|Abcb4|ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.|T|C|35|39.0|Splice|Alive, Line Propagating
6524891|IGL01329|19|23652736|Disrupted splicing|||MGI:1914733|1700028p14rik|RIKEN cDNA 1700028P14 gene [Source:MGI Symbol;Acc:MGI:1914733]|Heterozygous||A|G|30|37.0|Splice|Alive, Line Propagating
6524892|IGL01329|7|140224639|Disrupted splicing|||MGI:2443796|Cd163l1|CD163 molecule-like 1 [Source:MGI Symbol;Acc:MGI:2443796]|Heterozygous||T|A|27|30.0|Splice|Alive, Line Propagating
6524893|IGL01329|16|91391711|Disrupted splicing|||MGI:1098243|Ifnar2,rp23-190g10.4|,interferon (alpha and beta) receptor 2 [Source:MGI Symbol;Acc:MGI:1098243]|Heterozygous|Mice with mutations of this gene have defects in immune responses involving, variously, NK cells, CD4+ and CD8+ T cells and B cells in response to induced and transplanted tumors, viruses, and double stranded DNA. These defects include diminished secretion of type I and type II interferons.,NO_PHENOTYPE|T|A|24|37.5|Splice|Alive, Line Propagating
6524894|IGL01329|5|3734194|Disrupted splicing|||MGI:1918047|Ankib1|ankyrin repeat and IBR domain containing 1 [Source:MGI Symbol;Acc:MGI:1918047]|Heterozygous||A|T|11|39.0|Splice|Alive, Line Propagating
6525510|IGL01330|9|37804220|F->Y|0.99|Probably damaging|MGI:3030710|Olfr876|olfactory receptor 876 [Source:MGI Symbol;Acc:MGI:3030710]|Heterozygous||T|A|228|39.0|Non-synonymous|Alive, Line Propagating
6525511|IGL01330|17|17733280|S->P||Benign|MGI:3645076|Vmn2r90|vomeronasal 2, receptor 90 [Source:MGI Symbol;Acc:MGI:3645076]|Heterozygous||T|C|164|40.0|Non-synonymous|Alive, Line Propagating
6525512|IGL01330|7|43978443|L->Stop||N/A|MGI:95293|Klk1b9|kallikrein 1-related peptidase b9 [Source:MGI Symbol;Acc:MGI:95293]|Heterozygous||T|A|142|38.0|Non-synonymous|Alive, Line Propagating
6525513|IGL01330|3|53655241|Q->P|0.03|Benign|MGI:2444465|Frem2|Fras1 related extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:2444465]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.|T|G|132|38.5|Non-synonymous|Alive, Line Propagating
6525514|IGL01330|17|71436788|S->A||Benign|MGI:1921605|Smchd1|SMC hinge domain containing 1 [Source:MGI Symbol;Acc:MGI:1921605]|Heterozygous||A|C|115|39.0|Non-synonymous|Alive, Line Propagating
6525515|IGL01330|9|67964108|V->E|1.0|Probably damaging|MGI:2444207|Vps13c|vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]|Heterozygous||T|A|93|38.0|Non-synonymous|Alive, Line Propagating
6525516|IGL01330|3|146751511|N->T|0.97|Probably damaging|MGI:97594|Prkacb|protein kinase, cAMP dependent, catalytic, beta [Source:MGI Symbol;Acc:MGI:97594]|Heterozygous|Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation.|T|G|89|40.0|Non-synonymous|Alive, Line Propagating
6525517|IGL01330|18|37357578|I->F||Benign|MGI:2136742|Pcdhb8|protocadherin beta 8 [Source:MGI Symbol;Acc:MGI:2136742]|Heterozygous||A|T|78|40.0|Non-synonymous|Alive, Line Propagating
6525518|IGL01330|19|12210040|V->A|0.09|Benign|MGI:3031265|Olfr1431|olfactory receptor 1431 [Source:MGI Symbol;Acc:MGI:3031265]|Heterozygous||T|C|53|39.0|Non-synonymous|Alive, Line Propagating
6525519|IGL01330|2|131083536|V->D|||MGI:99668|Siglec1|sialic acid binding Ig-like lectin 1, sialoadhesin [Source:MGI Symbol;Acc:MGI:99668]|Heterozygous|Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels.|A|T|46|36.0|Non-synonymous|Alive, Line Propagating
6525521|IGL01330|4|25619791|V->A|0.95|Probably damaging|MGI:1330859|Fut9|fucosyltransferase 9 [Source:MGI Symbol;Acc:MGI:1330859]|Heterozygous|Homozygous mutant mice are viable and do not exhibit any overt abnormalities.|A|G|44|38.5|Non-synonymous|Alive, Line Propagating
6525522|IGL01330|7|35505034|S->L|0.81|Possibly damaging|MGI:1919231|Tdrd12|tudor domain containing 12 [Source:MGI Symbol;Acc:MGI:1919231]|Heterozygous||G|A|41|41.0|Non-synonymous|Alive, Line Propagating
6525523|IGL01330|X|161841453|S->T|1.0|Probably damaging|MGI:2684894|Nhs|Nance-Horan syndrome (human) [Source:MGI Symbol;Acc:MGI:2684894]|Heterozygous||A|T|40|38.5|Non-synonymous|Alive, Line Propagating
6525524|IGL01330|5|124391979|D->E|0.99|Probably damaging|MGI:2384298|Sbno1|sno, strawberry notch homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2384298]|Heterozygous||A|T|36|38.0|Non-synonymous|Alive, Line Propagating
6525525|IGL01330|2|143968618|E->D|0.41|Benign|MGI:1932395|Rrbp1|ribosome binding protein 1 [Source:MGI Symbol;Acc:MGI:1932395]|Heterozygous||T|A|35|38.0|Non-synonymous|Alive, Line Propagating
6525526|IGL01330|7|30022277|M->V||Benign|MGI:2142347|Zfp568|zinc finger protein 568 [Source:MGI Symbol;Acc:MGI:2142347]|Heterozygous|Homozygous null mutants are embryonic lethal with growth arrest around E8.5-9.0. Mutant embryo shows shortened anterior-posterior axial extension with defects in somites and midline structures including open gut tube, cardia bifida, and failure to close neural tube.|A|G|35|38.0|Non-synonymous|Alive, Line Propagating
6525527|IGL01330|4|58956483|D->G|0.36|Benign|MGI:3510405|Zkscan16|zinc finger with KRAB and SCAN domains 16 [Source:MGI Symbol;Acc:MGI:3510405]|Heterozygous||A|G|32|40.0|Non-synonymous|Alive, Line Propagating
6525528|IGL01330|9|98992535|M->K|0.99|Probably damaging|MGI:1344387|Faim|Fas apoptotic inhibitory molecule [Source:MGI Symbol;Acc:MGI:1344387]|Heterozygous|Mice homozygous for a null allele have thymocytes with an enhanced susceptibility to FAS-induced apoptosis, and B cells that more susceptible to activation induced cell death.|T|A|31|38.0|Non-synonymous|Alive, Line Propagating
6525529|IGL01330|9|108110913|S->P||Unknown|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|A|G|31|40.0|Non-synonymous|Alive, Line Propagating
6525530|IGL01330|1|136476374|V->A|1.0|Probably damaging|MGI:1098226|Kif14|kinesin family member 14 [Source:MGI Symbol;Acc:MGI:1098226]|Heterozygous||T|C|30|39.0|Non-synonymous|Alive, Line Propagating
6525531|IGL01330|4|44986375|F->L||Benign|MGI:1923488|Grhpr|glyoxylate reductase/hydroxypyruvate reductase [Source:MGI Symbol;Acc:MGI:1923488]|Heterozygous||T|C|29|40.0|Non-synonymous|Alive, Line Propagating
6525532|IGL01330|8|111481933|N->S|1.0|Probably damaging|MGI:2442115|Wdr59|WD repeat domain 59 [Source:MGI Symbol;Acc:MGI:2442115]|Heterozygous||T|C|29|37.0|Non-synonymous|Alive, Line Propagating
6525533|IGL01330|3|103803126|T->A||Benign|MGI:2156057|Dclre1b|DNA cross-link repair 1B, PSO2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2156057]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced embryo size and neonatal lethality.|T|C|28|37.5|Non-synonymous|Alive, Line Propagating
6525534|IGL01330|4|106771484|T->A||Benign|MGI:1913736|Acot11|acyl-CoA thioesterase 11 [Source:MGI Symbol;Acc:MGI:1913736]|Heterozygous||T|C|27|39.0|Non-synonymous|Alive, Line Propagating
6525535|IGL01330|12|54048819|Y->C|||MGI:1351610|Npas3|neuronal PAS domain protein 3 [Source:MGI Symbol;Acc:MGI:1351610]|Heterozygous|Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.|A|G|26|40.0|Non-synonymous|Alive, Line Propagating
6525536|IGL01330|3|26914715|P->S|1.0|Probably damaging|MGI:1918112|Spata16|spermatogenesis associated 16 [Source:MGI Symbol;Acc:MGI:1918112]|Heterozygous||C|T|26|39.0|Non-synonymous|Alive, Line Propagating
6525537|IGL01330|16|31154677|I->V|0.36|Benign|MGI:1925868|Acap2|ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Source:MGI Symbol;Acc:MGI:1925868]|Heterozygous||T|C|25|38.0|Non-synonymous|Alive, Line Propagating
6525538|IGL01330|15|83800119|I->N|0.99|Probably damaging|MGI:106316|Mpped1|metallophosphoesterase domain containing 1 [Source:MGI Symbol;Acc:MGI:106316]|Heterozygous||T|A|24|37.0|Non-synonymous|Alive, Line Propagating
6525539|IGL01330|5|65080182|R->H|0.01|Benign|MGI:2685292|Tmem156|transmembrane protein 156 [Source:MGI Symbol;Acc:MGI:2685292]|Heterozygous||C|T|23|39.0|Non-synonymous|Alive, Line Propagating
6525540|IGL01330|8|4736372|T->A|0.01|Benign|MGI:1338802|Shcbp1|Shc SH2-domain binding protein 1 [Source:MGI Symbol;Acc:MGI:1338802]|Heterozygous||T|C|23|40.0|Non-synonymous|Alive, Line Propagating
6525541|IGL01330|19|31920951|E->G|1.0|Probably damaging|MGI:1917115|A1cf|APOBEC1 complementation factor [Source:MGI Symbol;Acc:MGI:1917115]|Heterozygous|Embryos homozygous for a targeted deletion of this gene are detectable only until the blastocyst stage (E3.5) and isolated mutant blastocysts fail to proliferate in vitro.|A|G|21|41.0|Non-synonymous|Alive, Line Propagating
6525542|IGL01330|9|18508507|A->V|0.33|Benign|MGI:1920982|Muc16|mucin 16 [Source:MGI Symbol;Acc:MGI:1920982]|Heterozygous|Homozygous null mice are viable and fertile with no gross histological abnormalities. Homozygous male mice father larger litters when crossed to wild-type females.|G|A|21|39.0|Non-synonymous|Alive, Line Propagating
6525543|IGL01330|15|84044300|S->L|0.14|Benign|MGI:1924877|Efcab6|EF-hand calcium binding domain 6 [Source:MGI Symbol;Acc:MGI:1924877]|Heterozygous||G|A|20|39.0|Non-synonymous|Alive, Line Propagating
6525544|IGL01330|4|89171223|T->K|1.0|Probably damaging|MGI:1914152|Mtap|methylthioadenosine phosphorylase [Source:MGI Symbol;Acc:MGI:1914152]|Heterozygous|Mice homozygous for a gene trapped allele die by E8.5. Heterozygotes display no significant hearing loss up to 6 months of age.|C|A|20|39.5|Non-synonymous|Alive, Line Propagating
6525545|IGL01330|2|79368781|I->T|0.92|Possibly damaging|MGI:3037816|Cerkl|ceramide kinase-like [Source:MGI Symbol;Acc:MGI:3037816]|Heterozygous||A|G|19|38.0|Non-synonymous|Alive, Line Propagating
6525546|IGL01330|15|6842028|Y->H|||MGI:1330819|Osmr|oncostatin M receptor [Source:MGI Symbol;Acc:MGI:1330819]|Heterozygous|Mice homozygous for a knock-out allele exhibit anemia, decreased hematocrit, and reduced erythroid progenitor, erythrocyte, platelet, and megakaryocyte cells.|A|G|18|39.0|Non-synonymous|Alive, Line Propagating
6525547|IGL01330|5|23497948|P->Q|0.96|Probably damaging|MGI:1924825|Mll5|myeloid/lymphoid or mixed-lineage leukemia 5 [Source:MGI Symbol;Acc:MGI:1924825]|Heterozygous|Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis.|C|A|17|40.0|Non-synonymous|Alive, Line Propagating
6525548|IGL01330|8|67697178|Y->D|1.0|Probably damaging|MGI:1918215|Psd3|pleckstrin and Sec7 domain containing 3 [Source:MGI Symbol;Acc:MGI:1918215]|Heterozygous||A|C|17|39.0|Non-synonymous|Alive, Line Propagating
6525549|IGL01330|2|131075005|L->Stop||N/A|MGI:99668|Siglec1|sialic acid binding Ig-like lectin 1, sialoadhesin [Source:MGI Symbol;Acc:MGI:99668]|Heterozygous|Mice homozygous for a disruption in this gene display subtle changes in B- and T-cell populations and decreased IgM levels.|A|T|15|38.0|Non-synonymous|Alive, Line Propagating
6525550|IGL01330|3|127584007|V->E|0.96|Probably damaging|MGI:1918893|4930422g04rik|RIKEN cDNA 4930422G04 gene [Source:MGI Symbol;Acc:MGI:1918893]|Heterozygous||T|A|14|39.0|Non-synonymous|Alive, Line Propagating
6525551|IGL01330|7|103980142|Disrupted splicing|||MGI:3030469|Olfr635|olfactory receptor 635 [Source:MGI Symbol;Acc:MGI:3030469]|Heterozygous||A|T|128|39.0|Splice|Alive, Line Propagating
6525552|IGL01330|15|81010852|Disrupted splicing|||MGI:1916329|Sgsm3|small G protein signaling modulator 3 [Source:MGI Symbol;Acc:MGI:1916329]|Heterozygous||T|A|65|38.0|Splice|Alive, Line Propagating
6525553|IGL01330|6|17654171|Disrupted splicing|||MGI:106222|Capza2|capping protein (actin filament) muscle Z-line, alpha 2 [Source:MGI Symbol;Acc:MGI:106222]|Heterozygous||T|C|30|40.5|Splice|Alive, Line Propagating
6525554|IGL01330|9|21192438|Disrupted splicing|||MGI:99558|Pde4a|phosphodiesterase 4A, cAMP specific [Source:MGI Symbol;Acc:MGI:99558]|Heterozygous|Homozygous null mice have a normal phenotype.|C|T|26|39.0|Splice|Alive, Line Propagating
6526195|IGL01331|13|93096946|E->K|0.35|Benign|MGI:1923719|Cmya5|cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]|Heterozygous||C|T|234|38.0|Non-synonymous|Alive, Line Propagating
6526196|IGL01331|12|115335372|V->I|||MGI:3581248, MGI:3052201, MGI:3644474|Ac087166.2||Heterozygous||C|T|204|40.0|Non-synonymous|Alive, Line Propagating
6526197|IGL01331|7|26187715|V->A|1.0|Probably damaging|MGI:88600|Cyp2b9|cytochrome P450, family 2, subfamily b, polypeptide 9 [Source:MGI Symbol;Acc:MGI:88600]|Heterozygous||T|C|120|40.0|Non-synonymous|Alive, Line Propagating
6526198|IGL01331|3|144747512|T->M|1.0|Probably damaging|MGI:1316732|Clca1|chloride channel calcium activated 1 [Source:MGI Symbol;Acc:MGI:1316732]|Heterozygous||G|A|82|39.0|Non-synonymous|Alive, Line Propagating
6526199|IGL01331|2|4602225|M->K|0.65|Possibly damaging|MGI:1919850|Frmd4a|FERM domain containing 4A [Source:MGI Symbol;Acc:MGI:1919850]|Heterozygous||T|A|61|35.0|Non-synonymous|Alive, Line Propagating
6526200|IGL01331|X|101280754|E->G|0.6|Possibly damaging|MGI:1926212|Med12|mediator of RNA polymerase II transcription, subunit 12 homolog (yeast) [Source:MGI Symbol;Acc:MGI:1926212]|Heterozygous||A|G|50|39.0|Non-synonymous|Alive, Line Propagating
6526201|IGL01331|7|86171662|C->Stop||N/A|MGI:3648311|Vmn2r75|vomeronasal 2, receptor 75 [Source:MGI Symbol;Acc:MGI:3648311]|Heterozygous||A|T|47|40.0|Non-synonymous|Alive, Line Propagating
6526202|IGL01331|X|152005106|T->A||Benign|MGI:1913861|Ribc1|RIB43A domain with coiled-coils 1 [Source:MGI Symbol;Acc:MGI:1913861]|Heterozygous||T|C|42|38.0|Non-synonymous|Alive, Line Propagating
6526203|IGL01331|9|110034801|V->L|0.16|Benign|MGI:97178|Mtap4|microtubule-associated protein 4 [Source:MGI Symbol;Acc:MGI:97178]|Heterozygous|Mice homozygous for a gene trapped allele are viable and do not display any overt phenotypic abnormalities.|G|T|41|37.0|Non-synonymous|Alive, Line Propagating
6526204|IGL01331|2|130232356|Y->C|1.0|Probably damaging|MGI:2151017|Tmc2|transmembrane channel-like gene family 2 [Source:MGI Symbol;Acc:MGI:2151017]|Heterozygous||A|G|38|37.0|Non-synonymous|Alive, Line Propagating
6526205|IGL01331|4|121045192|P->S|||MGI:88466|Col9a2|collagen, type IX, alpha 2 [Source:MGI Symbol;Acc:MGI:88466]|Heterozygous||C|T|36|38.5|Non-synonymous|Alive, Line Propagating
6526206|IGL01331|5|87090942|W->R|1.0|Probably damaging|MGI:3576103|Ugt2b36|UDP glucuronosyltransferase 2 family, polypeptide B36 [Source:MGI Symbol;Acc:MGI:3576103]|Heterozygous||A|T|35|40.0|Non-synonymous|Alive, Line Propagating
6526207|IGL01331|5|142453589|R->Q|0.96|Probably damaging|MGI:1347488|Foxk1|forkhead box K1 [Source:MGI Symbol;Acc:MGI:1347488]|Heterozygous|Mice homozygous for a knock-out allele are runted and exhibit a reduced myogenic progenitor cell population with impaired cell cycle progression (G0/G1 arrest) and decreased proliferative capacity that results in severe impairment of skeletal muscle regeneration following injury.|G|A|35|37.0|Non-synonymous|Alive, Line Propagating
6526208|IGL01331|1|190800352|N->K|0.11|Benign|MGI:2443419|Rps6kc1|ribosomal protein S6 kinase polypeptide 1 [Source:MGI Symbol;Acc:MGI:2443419]|Heterozygous||G|T|34|36.0|Non-synonymous|Alive, Line Propagating
6526209|IGL01331|1|85941193|D->V||Unknown|MGI:2685064|Gpr55|G protein-coupled receptor 55 [Source:MGI Symbol;Acc:MGI:2685064]|Heterozygous||T|A|32|38.0|Non-synonymous|Alive, Line Propagating
6526210|IGL01331|16|44740131|I->T||Benign|MGI:1913317|Gtpbp8|GTP-binding protein 8 (putative) [Source:MGI Symbol;Acc:MGI:1913317]|Heterozygous||A|G|31|40.0|Non-synonymous|Alive, Line Propagating
6526211|IGL01331|4|63982875|D->G|1.0|Probably damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|T|C|29|39.0|Non-synonymous|Alive, Line Propagating
6526212|IGL01331|7|81041548|C->Stop||N/A|MGI:2443541|Zfp592|zinc finger protein 592 [Source:MGI Symbol;Acc:MGI:2443541]|Heterozygous||T|A|22|38.0|Non-synonymous|Alive, Line Propagating
6526213|IGL01331|7|103937575|Y->C|1.0|Probably damaging|MGI:3030466|Olfr632|olfactory receptor 632 [Source:MGI Symbol;Acc:MGI:3030466]|Heterozygous||A|G|22|39.0|Non-synonymous|Alive, Line Propagating
6526214|IGL01331|1|164796810|Y->H||Unknown|MGI:1928392|Dpt|dermatopontin [Source:MGI Symbol;Acc:MGI:1928392]|Heterozygous|Homozygotes for a targeted null mutation exhibit skin with increased elasticity, decreased thickness, and reduced collagen content, and possess more subcutaneous adipose tissue. Corneal thickness is reduced as well.|T|C|20|38.5|Non-synonymous|Alive, Line Propagating
6526215|IGL01331|10|44441974|K->N|0.2|Benign|MGI:99655|Prdm1|PR domain containing 1, with ZNF domain [Source:MGI Symbol;Acc:MGI:99655]|Heterozygous|Homozygous null mice display embryonic lethality and impaired primordial germ cell development, while heterozygotes display a decreased numbers of primordial germ cells but normal migration. Conditional mutants display impaired plasma cell and pre-plasma memory B cell development.|T|A|20|38.0|Non-synonymous|Alive, Line Propagating
6526216|IGL01331|12|104343110|A->D|1.0|Probably damaging|MGI:98377|Serpina3k|serine (or cysteine) peptidase inhibitor, clade A, member 3K [Source:MGI Symbol;Acc:MGI:98377]|Heterozygous||C|A|19|39.0|Non-synonymous|Alive, Line Propagating
6526217|IGL01331|2|86332704|Y->Stop||N/A|MGI:3030888|Olfr1054|olfactory receptor 1054 [Source:MGI Symbol;Acc:MGI:3030888]|Heterozygous||A|C|19|39.0|Non-synonymous|Alive, Line Propagating
6526218|IGL01331|6|124705070|S->P|0.02|Benign|MGI:1315195|Emg1|EMG1 nucleolar protein homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1315195]|Heterozygous|Mice homozygous for a reporter allele fail to form blastocele and die after E3.5.|A|G|19|38.0|Non-synonymous|Alive, Line Propagating
6526219|IGL01331|7|118408166|I->F|0.62|Possibly damaging|MGI:104966|Syt17|synaptotagmin XVII [Source:MGI Symbol;Acc:MGI:104966]|Heterozygous||T|A|18|38.0|Non-synonymous|Alive, Line Propagating
6526220|IGL01331|6|104774523|D->V|1.0|Probably damaging|MGI:1858223|Cntn6|contactin 6 [Source:MGI Symbol;Acc:MGI:1858223]|Heterozygous|Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain.|A|T|16|38.0|Non-synonymous|Alive, Line Propagating
6526221|IGL01331|17|45558569|V->A|0.35|Benign|MGI:1194908|Nfkbie|nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon [Source:MGI Symbol;Acc:MGI:1194908]|Heterozygous|Mice homozygous for disruptions of this gene display an essentially normal phenotype.|T|C|15|38.0|Non-synonymous|Alive, Line Propagating
6526222|IGL01331|6|134718104|Q->R|0.68|Possibly damaging|MGI:1917936|Dusp16|dual specificity phosphatase 16 [Source:MGI Symbol;Acc:MGI:1917936]|Heterozygous||T|C|15|39.0|Non-synonymous|Alive, Line Propagating
6526223|IGL01331|13|106795746|Y->F|0.84|Possibly damaging|MGI:2442377|Ipo11|importin 11 [Source:MGI Symbol;Acc:MGI:2442377]|Heterozygous||T|A|14|38.0|Non-synonymous|Alive, Line Propagating
6526224|IGL01331|5|73669681|R->L|1.0|Probably damaging|MGI:1920722|Spata18|spermatogenesis associated 18 [Source:MGI Symbol;Acc:MGI:1920722]|Heterozygous||G|T|13|40.0|Non-synonymous|Alive, Line Propagating
6526225|IGL01331|1|166108180|V->L|1.0|Probably damaging|MGI:2685055|Dusp27|dual specificity phosphatase 27 (putative) [Source:MGI Symbol;Acc:MGI:2685055]|Heterozygous||C|A|12|39.5|Non-synonymous|Alive, Line Propagating
6526226|IGL01331|2|76789678|I->T|0.66|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|10|37.5|Non-synonymous|Alive, Line Propagating
6526227|IGL01331|12|75929253|Disrupted splicing|||MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|C|A|28|39.0|Splice|Alive, Line Propagating
6526228|IGL01331|8|3717190|Disrupted splicing|||MGI:1923113|Clec4g|C-type lectin domain family 4, member g [Source:MGI Symbol;Acc:MGI:1923113]|Heterozygous||T|C|26|39.0|Splice|Alive, Line Propagating
6526229|IGL01331|13|30219701|Disrupted splicing|||MGI:2387184|Mboat1|membrane bound O-acyltransferase domain containing 1 [Source:MGI Symbol;Acc:MGI:2387184]|Heterozygous||C|A|25|39.0|Splice|Alive, Line Propagating
6526230|IGL01331|2|130143618|Disrupted splicing|||MGI:3044321|Tgm6|transglutaminase 6 [Source:MGI Symbol;Acc:MGI:3044321]|Heterozygous||A|G|21|38.0|Splice|Alive, Line Propagating
6535663|IGL01333|4|60005529|F->S|1.0|Probably damaging|MGI:3650962|Mup6|major urinary protein 6 [Source:MGI Symbol;Acc:MGI:3650962]|Heterozygous||T|C|145|37.0|Non-synonymous|Alive
6535664|IGL01333|19|12035941|T->I|0.02|Benign|MGI:3031257|Olfr1423|olfactory receptor 1423 [Source:MGI Symbol;Acc:MGI:3031257]|Heterozygous||G|A|135|37.0|Non-synonymous|Alive
6535665|IGL01333|9|90186979|G->C|1.0|Probably damaging|MGI:1347346|Adamts7|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7 [Source:MGI Symbol;Acc:MGI:1347346]|Heterozygous||G|T|125|35.0|Non-synonymous|Alive
6535666|IGL01333|17|20042793|R->S||Benign|MGI:1316665|Vmn2r104|vomeronasal 2, receptor 104 [Source:MGI Symbol;Acc:MGI:1316665]|Heterozygous||T|A|116|36.0|Non-synonymous|Alive
6535667|IGL01333|4|117070690|S->T||Benign|MGI:1313286|Eif2b3|eukaryotic translation initiation factor 2B, subunit 3 [Source:MGI Symbol;Acc:MGI:1313286]|Heterozygous||T|A|102|37.0|Non-synonymous|Alive
6535668|IGL01333|1|65388725|D->V||Benign|MGI:2180917|Pth2r|parathyroid hormone 2 receptor [Source:MGI Symbol;Acc:MGI:2180917]|Heterozygous||A|T|77|34.0|Non-synonymous|Alive
6535669|IGL01333|7|120382308|C->F|0.98|Probably damaging|MGI:2388709|Abca15|ATP-binding cassette, sub-family A (ABC1), member 15 [Source:MGI Symbol;Acc:MGI:2388709]|Heterozygous||G|T|77|37.0|Non-synonymous|Alive
6535670|IGL01333|3|5399327|T->I|1.0|Probably damaging|MGI:2137668|Zfhx4|zinc finger homeodomain 4 [Source:MGI Symbol;Acc:MGI:2137668]|Heterozygous||C|T|69|39.0|Non-synonymous|Alive
6535671|IGL01333|3|63346091|I->T|0.92|Possibly damaging|MGI:97004|Mme|membrane metallo endopeptidase [Source:MGI Symbol;Acc:MGI:97004]|Heterozygous||T|C|61|36.0|Non-synonymous|Alive
6535672|IGL01333|16|59035906|Y->C|1.0|Probably damaging|MGI:3030021|Olfr187|olfactory receptor 187 [Source:MGI Symbol;Acc:MGI:3030021]|Heterozygous||T|C|59|37.0|Non-synonymous|Alive
6535673|IGL01333|6|18879346|H->R||Benign|MGI:1922446|Ankrd7|ankyrin repeat domain 7 [Source:MGI Symbol;Acc:MGI:1922446]|Heterozygous||A|G|51|37.0|Non-synonymous|Alive
6535674|IGL01333|19|38175695|E->K|0.99|Probably damaging|MGI:105956|Pde6c|phosphodiesterase 6C, cGMP specific, cone, alpha prime [Source:MGI Symbol;Acc:MGI:105956]|Heterozygous|A spontaneous mutation in this gene results in abnormal cone photoreceptor function.|G|A|50|38.0|Non-synonymous|Alive
6535675|IGL01333|7|127034195|V->G|0.98|Probably damaging|MGI:109233|Kif22|kinesin family member 22 [Source:MGI Symbol;Acc:MGI:109233]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality prior to implantation due to defective meiosis II and early embryo mitosis.|A|C|50|37.0|Non-synonymous|Alive
6535676|IGL01333|5|22171251|I->N|0.99|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|A|T|47|35.0|Non-synonymous|Alive
6535677|IGL01333|8|72666811|D->G|0.04|Benign|MGI:2442268|Nwd1|NACHT and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:2442268]|Heterozygous||A|G|46|34.5|Non-synonymous|Alive
6535678|IGL01333|9|115257544|Y->N|0.82|Possibly damaging|MGI:1915542|Stt3b|STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915542]|Heterozygous||A|T|42|35.0|Non-synonymous|Alive
6535679|IGL01333|14|27493315|R->G|0.68|Possibly damaging|MGI:2443639|Ccdc66|coiled-coil domain containing 66 [Source:MGI Symbol;Acc:MGI:2443639]|Heterozygous||T|C|38|35.0|Non-synonymous|Alive
6535680|IGL01333|4|59047870|N->D|1.0|Probably damaging|MGI:2140313|Ai481877|expressed sequence AI481877 [Source:MGI Symbol;Acc:MGI:2140313]|Heterozygous||T|C|35|38.0|Non-synonymous|Alive
6535681|IGL01333|9|121731564|I->V|0.79|Possibly damaging|MGI:97346|Nktr|natural killer tumor recognition sequence [Source:MGI Symbol;Acc:MGI:97346]|Heterozygous||A|G|32|36.0|Non-synonymous|Alive
6535682|IGL01333|5|110143573|K->E|0.12|Benign|MGI:2444898|Chfr|checkpoint with forkhead and ring finger domains [Source:MGI Symbol;Acc:MGI:2444898]|Heterozygous|Homozygous null mice and MEFs display increased tumor incidence and inducibility, premature death, increased chromosomal instability, and cell cycle abnormalities.|A|G|31|35.0|Non-synonymous|Alive
6535683|IGL01333|6|35241063|F->L||Benign|MGI:2141625|Nup205|nucleoporin 205 [Source:MGI Symbol;Acc:MGI:2141625]|Heterozygous||T|C|31|37.0|Non-synonymous|Alive
6535684|IGL01333|2|24974441|N->S||Benign|MGI:1333816|Mrpl41|mitochondrial ribosomal protein L41 [Source:MGI Symbol;Acc:MGI:1333816]|Heterozygous||T|C|30|35.0|Non-synonymous|Alive
6535685|IGL01333|15|102430929|E->G|||MGI:98372|Sp1|trans-acting transcription factor 1 [Source:MGI Symbol;Acc:MGI:98372]|Heterozygous|Homozygous null mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures.|A|G|29|37.0|Non-synonymous|Alive
6535686|IGL01333|18|67640117|R->Q|0.15|Benign|MGI:1923401|Cep76|centrosomal protein 76 [Source:MGI Symbol;Acc:MGI:1923401]|Heterozygous||C|T|18|37.0|Non-synonymous|Alive
6535687|IGL01333|4|137540314|Y->H||Benign|MGI:96257|Hspg2|perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257]|Heterozygous|Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect.|T|C|18|35.5|Non-synonymous|Alive
6535688|IGL01333|5|16576941|R->Stop||N/A|MGI:96079|Hgf|hepatocyte growth factor [Source:MGI Symbol;Acc:MGI:96079]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality.|A|T|17|37.0|Non-synonymous|Alive
6535689|IGL01333|11|88845605|E->G|1.0|Probably damaging|MGI:104729|Akap1|A kinase (PRKA) anchor protein 1 [Source:MGI Symbol;Acc:MGI:104729]|Heterozygous|Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation.|T|C|10|35.0|Non-synonymous|Alive
6535690|IGL01333|6|6042739|Disrupted splicing|||MGI:1354721|Slc25a13|solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 [Source:MGI Symbol;Acc:MGI:1354721]|Heterozygous|Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects.|A|G|132|35.5|Splice|Alive
6535691|IGL01333|7|118163378|Disrupted splicing|||MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||A|G|56|38.0|Splice|Alive
6535692|IGL01333|9|72335114|Disrupted splicing|||MGI:2384583|Zfp280d|zinc finger protein 280D [Source:MGI Symbol;Acc:MGI:2384583]|Heterozygous||A|G|36|39.0|Splice|Alive
6535693|IGL01333|6|112459927|Disrupted splicing|||MGI:107570|Cav3|caveolin 3 [Source:MGI Symbol;Acc:MGI:107570]|Heterozygous|Homozygous targeted mutant animals display mild myopathic changes in muscle.|T|C|16|35.0|Splice|Alive
6536909|IGL01335|5|109286736|P->S|||MGI:3649165|Vmn2r15|vomeronasal 2, receptor 15 [Source:MGI Symbol;Acc:MGI:3649165]|Heterozygous||G|A|348|37.0|Non-synonymous|Alive, Line Propagating
6536910|IGL01335|7|131088767|Y->C||Unknown|MGI:106210|Dmbt1|deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]|Heterozygous|Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.|A|G|264|35.0|Non-synonymous|Alive, Line Propagating
6536911|IGL01335|3|96919242|Q->R|0.04|Benign|MGI:99953|Gja8|gap junction protein, alpha 8 [Source:MGI Symbol;Acc:MGI:99953]|Heterozygous|Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background.|T|C|203|36.0|Non-synonymous|Alive, Line Propagating
6536912|IGL01335|7|5481088|I->M|||MGI:3645468|Vmn2r28|vomeronasal 2, receptor 28 [Source:MGI Symbol;Acc:MGI:3645468]|Heterozygous||T|C|172|37.0|Non-synonymous|Alive, Line Propagating
6536913|IGL01335|19|13655176|H->L|1.0|Probably damaging|MGI:3031324|Olfr1490|olfactory receptor 1490 [Source:MGI Symbol;Acc:MGI:3031324]|Heterozygous||A|T|133|33.0|Non-synonymous|Alive, Line Propagating
6536914|IGL01335|13|55034911|Q->L|0.42|Benign|MGI:103185|Uimc1|ubiquitin interaction motif containing 1 [Source:MGI Symbol;Acc:MGI:103185]|Heterozygous||T|A|104|35.5|Non-synonymous|Alive, Line Propagating
6536915|IGL01335|10|129046511|K->R|0.01|Benign|MGI:3030599|Olfr765|olfactory receptor 765 [Source:MGI Symbol;Acc:MGI:3030599]|Heterozygous||T|C|88|36.0|Non-synonymous|Alive, Line Propagating
6536916|IGL01335|2|87810446|T->S|1.0|Probably damaging|MGI:3030979|Olfr1145|olfactory receptor 1145 [Source:MGI Symbol;Acc:MGI:3030979]|Heterozygous||A|T|87|37.0|Non-synonymous|Alive, Line Propagating
6536917|IGL01335|2|86217572|L->Q|1.0|Probably damaging|MGI:3030880|Olfr1046|olfactory receptor 1046 [Source:MGI Symbol;Acc:MGI:3030880]|Heterozygous||A|T|86|38.0|Non-synonymous|Alive, Line Propagating
6536918|IGL01335|9|100497737|W->R|1.0|Probably damaging|MGI:109601|Nck1|non-catalytic region of tyrosine kinase adaptor protein 1 [Source:MGI Symbol;Acc:MGI:109601]|Heterozygous|Mice homozygous for disruption of this gene display no abnormal phenotype.|A|T|82|36.0|Non-synonymous|Alive, Line Propagating
6536919|IGL01335|5|87336785|C->S|1.0|Probably damaging|MGI:1919344|Ugt2a3|UDP glucuronosyltransferase 2 family, polypeptide A3 [Source:MGI Symbol;Acc:MGI:1919344]|Heterozygous||A|T|74|38.0|Non-synonymous|Alive, Line Propagating
6536920|IGL01335|13|59616796|L->Q|0.99|Probably damaging|MGI:1925939|Naa35|N(alpha)-acetyltransferase 35, NatC auxiliary subunit [Source:MGI Symbol;Acc:MGI:1925939]|Heterozygous||T|A|61|38.0|Non-synonymous|Alive, Line Propagating
6536921|IGL01335|6|124766655|G->E|1.0|Probably damaging|MGI:95394|Eno2|enolase 2, gamma neuronal [Source:MGI Symbol;Acc:MGI:95394]|Heterozygous||C|T|61|35.0|Non-synonymous|Alive, Line Propagating
6536922|IGL01335|5|33998447|Y->F|0.05|Benign|MGI:2447776|Nat8l|N-acetyltransferase 8-like [Source:MGI Symbol;Acc:MGI:2447776]|Heterozygous||A|T|58|35.0|Non-synonymous|Alive, Line Propagating
6536923|IGL01335|14|47250782|E->G|0.61|Possibly damaging|MGI:2443514|Wdhd1|WD repeat and HMG-box DNA binding protein 1 [Source:MGI Symbol;Acc:MGI:2443514]|Heterozygous||T|C|57|37.0|Non-synonymous|Alive, Line Propagating
6536924|IGL01335|3|152742536|T->S||Benign|MGI:1913863|Pigk|phosphatidylinositol glycan anchor biosynthesis, class K [Source:MGI Symbol;Acc:MGI:1913863]|Heterozygous||A|T|56|37.5|Non-synonymous|Alive, Line Propagating
6536925|IGL01335|10|61198681|R->W|0.91|Possibly damaging|MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||T|A|45|35.0|Non-synonymous|Alive, Line Propagating
6536926|IGL01335|4|43302628|F->L|0.12|Benign|MGI:2444287|Atp8b5|ATPase, class I, type 8B, member 5 [Source:MGI Symbol;Acc:MGI:2444287]|Heterozygous||T|A|45|37.0|Non-synonymous|Alive, Line Propagating
6536927|IGL01335|1|58082153|E->Stop||N/A|MGI:88035|Aox1|aldehyde oxidase 1 [Source:MGI Symbol;Acc:MGI:88035]|Heterozygous||G|T|43|37.0|Non-synonymous|Alive, Line Propagating
6536928|IGL01335|3|152392217|S->P|1.0|Probably damaging|MGI:2159711|Usp33|ubiquitin specific peptidase 33 [Source:MGI Symbol;Acc:MGI:2159711]|Heterozygous||T|C|43|37.0|Non-synonymous|Alive, Line Propagating
6536929|IGL01335|5|108680871|Q->R|1.0|Probably damaging|MGI:96418|Idua|iduronidase, alpha-L- [Source:MGI Symbol;Acc:MGI:96418]|Heterozygous|Targeted mutants show lysosomal storage in multiple tissues, increased urinary GAG, craniofacial and skeletal defects, increased body weight, impaired habituation and long-term memory for aversive training, reduced ventricular function with valve insufficiency, and progressive hearing loss.|A|G|40|37.0|Non-synonymous|Alive, Line Propagating
6536930|IGL01335|12|72308350|V->A||Benign|MGI:1933947|Rtn1|reticulon 1 [Source:MGI Symbol;Acc:MGI:1933947]|Heterozygous||A|G|39|35.0|Non-synonymous|Alive, Line Propagating
6536931|IGL01335|14|42640638|T->S|||MGI:3781809|Gm3633|predicted gene 3633 [Source:MGI Symbol;Acc:MGI:3781809]|Heterozygous||T|A|39|37.0|Non-synonymous|Alive, Line Propagating
6536932|IGL01335|2|152442387|M->K|0.44|Possibly damaging|MGI:3045333|6820408c15rik|RIKEN cDNA 6820408C15 gene [Source:MGI Symbol;Acc:MGI:3045333]|Heterozygous||T|A|38|38.0|Non-synonymous|Alive, Line Propagating
6536933|IGL01335|X|73260033|V->F|||MGI:3047103|Xlr3c|X-linked lymphocyte-regulated 3C [Source:MGI Symbol;Acc:MGI:3047103]|Heterozygous||C|A|37|35.0|Non-synonymous|Alive, Line Propagating
6536934|IGL01335|19|5142632|V->E|1.0|Probably damaging|MGI:1277113|Pacs1|phosphofurin acidic cluster sorting protein 1 [Source:MGI Symbol;Acc:MGI:1277113]|Heterozygous||A|T|36|34.0|Non-synonymous|Alive, Line Propagating
6536935|IGL01335|14|54427199|Y->H|1.0|Probably damaging|MGI:1916086|Mrpl52|mitochondrial ribosomal protein L52 [Source:MGI Symbol;Acc:MGI:1916086]|Heterozygous||T|C|28|35.0|Non-synonymous|Alive, Line Propagating
6536936|IGL01335|17|57525732|T->I|0.97|Probably damaging|MGI:3644483|Vmn2r120|vomeronasal 2, receptor 120 [Source:MGI Symbol;Acc:MGI:3644483]|Heterozygous||G|A|28|39.0|Non-synonymous|Alive, Line Propagating
6536937|IGL01335|18|13844719|V->E|0.78|Possibly damaging|MGI:95459|Zfp521|zinc finger protein 521 [Source:MGI Symbol;Acc:MGI:95459]|Heterozygous|Mice homozygous for a conditional allele activated in chondrocytes exhibit postnatal growth retardation, dwarfism, premature bone mineralization, reduced chondrocyte proliferation, and increased chondrocyte apoptosis.|A|T|28|35.0|Non-synonymous|Alive, Line Propagating
6536938|IGL01335|9|121454316|T->A|0.07|Benign|MGI:1914345|Trak1|trafficking protein, kinesin binding 1 [Source:MGI Symbol;Acc:MGI:1914345]|Heterozygous|Mice with a spontaneous mutation in this allele have various behavioral abnormalities consistent with hypertonia. Inclusions can be found in neuronal processes of the gray matter of the brainstem and spinal cord.|A|G|25|35.0|Non-synonymous|Alive, Line Propagating
6536939|IGL01335|14|34089590|M->T|0.99|Probably damaging|MGI:1201374|Anxa8|annexin A8 [Source:MGI Symbol;Acc:MGI:1201374]|Heterozygous||T|C|23|35.0|Non-synonymous|Alive, Line Propagating
6536940|IGL01335|15|85019585|Y->N|1.0|Probably damaging|MGI:98914|Upk3a|uroplakin 3A [Source:MGI Symbol;Acc:MGI:98914]|Heterozygous|Homozygous null mice exhibit urogenital defects including abnormal urothelium, vesicoureteral reflux, and hydronephrosis.|T|A|21|35.0|Non-synonymous|Alive, Line Propagating
6536941|IGL01335|8|46170455|Q->R|1.0|Probably damaging|MGI:1914006|4933411k20rik|RIKEN cDNA 4933411K20 gene [Source:MGI Symbol;Acc:MGI:1914006]|Heterozygous||A|G|21|36.0|Non-synonymous|Alive, Line Propagating
6536942|IGL01335|6|125025053|D->E||Benign|MGI:2443203|Zfp384|zinc finger protein 384 [Source:MGI Symbol;Acc:MGI:2443203]|Heterozygous|Homozygous mice are small and males have a small testis. Some males develop infertility and exhibit variable degrees of spermatogenic cell degeneration within the seminiferous tubules and increased apoptosis of spermatogenic cells.|T|G|20|34.0|Non-synonymous|Alive, Line Propagating
6536943|IGL01335|14|31702024|Y->C|0.96|Probably damaging|MGI:2145661|Ankrd28|ankyrin repeat domain 28 [Source:MGI Symbol;Acc:MGI:2145661]|Heterozygous||T|C|19|35.0|Non-synonymous|Alive, Line Propagating
6536944|IGL01335|4|119477959|T->A|0.22|Benign|MGI:3040686|Rimkla|ribosomal modification protein rimK-like family member A [Source:MGI Symbol;Acc:MGI:3040686]|Heterozygous||T|C|19|35.0|Non-synonymous|Alive, Line Propagating
6536945|IGL01335|6|113704056|M->K|||MGI:3576210|Tatdn2|TatD DNase domain containing 2 [Source:MGI Symbol;Acc:MGI:3576210]|Heterozygous||T|A|17|35.0|Non-synonymous|Alive, Line Propagating
6536946|IGL01335|11|80250229|D->V|1.0|Probably damaging|MGI:1926078|Rhot1|ras homolog gene family, member T1 [Source:MGI Symbol;Acc:MGI:1926078]|Heterozygous||A|T|16|36.5|Non-synonymous|Alive, Line Propagating
6536947|IGL01335|5|108423513|R->H|1.0|Probably damaging|MGI:97525|Pde6b|phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide [Source:MGI Symbol;Acc:MGI:97525]|Heterozygous|Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes.|G|A|16|37.0|Non-synonymous|Alive, Line Propagating
6536948|IGL01335|6|142361758|V->A|0.93|Possibly damaging|MGI:2676395|Pyroxd1|pyridine nucleotide-disulphide oxidoreductase domain 1 [Source:MGI Symbol;Acc:MGI:2676395]|Heterozygous||T|C|14|35.0|Non-synonymous|Alive, Line Propagating
6536949|IGL01335|15|13051309|A->T||Benign|MGI:107435|Cdh6|cadherin 6 [Source:MGI Symbol;Acc:MGI:107435]|Heterozygous|Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons.|C|T|13|34.0|Non-synonymous|Alive, Line Propagating
6536950|IGL01335|12|4297520|S->R|1.0|Probably damaging|MGI:1276523|Ncoa1|nuclear receptor coactivator 1 [Source:MGI Symbol;Acc:MGI:1276523]|Heterozygous||A|T|12|35.5|Non-synonymous|Alive, Line Propagating
6536951|IGL01335|6|113319337|S->G|0.07|Benign|MGI:1926033|Brpf1|bromodomain and PHD finger containing, 1 [Source:MGI Symbol;Acc:MGI:1926033]|Heterozygous||A|G|11|36.0|Non-synonymous|Alive, Line Propagating
6536952|IGL01335|11|109365743|R->Q|1.0|Probably damaging|MGI:95768|Gna13|guanine nucleotide binding protein, alpha 13 [Source:MGI Symbol;Acc:MGI:95768]|Heterozygous|Mice homozygous for a targeted null or with an endothelial specific conditional mutation fail to develop an organized vascular system in the yolk sac, show impaired vascular development in some vascular beds in the embryo proper, and die during organogenesis.|G|A|10|36.0|Non-synonymous|Alive, Line Propagating
6536953|IGL01335|12|24608058|E->D|1.0|Probably damaging|MGI:2182540|Grhl1|grainyhead-like 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2182540]|Heterozygous|Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation.|A|T|10|36.5|Non-synonymous|Alive, Line Propagating
6536954|IGL01335|17|25269436|Q->H||Benign|MGI:107365|Ube2i|ubiquitin-conjugating enzyme E2I [Source:MGI Symbol;Acc:MGI:107365]|Heterozygous|Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization.|C|A|10|36.5|Non-synonymous|Alive, Line Propagating
6536955|IGL01335|X|46455878|Disrupted splicing|||MGI:3647751|Gm4987|predicted gene 4987 [Source:MGI Symbol;Acc:MGI:3647751]|Heterozygous||A|T|73|35.0|Splice|Alive, Line Propagating
6536956|IGL01335|16|96373153|Disrupted splicing|||MGI:1919308|Igsf5|immunoglobulin superfamily, member 5 [Source:MGI Symbol;Acc:MGI:1919308]|Heterozygous|Homozygous mutation of this gene results in no obvious abnormalities.|T|A|64|35.0|Splice|Alive, Line Propagating
6536957|IGL01335|10|79862874|Disrupted splicing|||MGI:97791|Ptbp1|polypyrimidine tract binding protein 1 [Source:MGI Symbol;Acc:MGI:97791]|Heterozygous||G|A|35|39.0|Splice|Alive, Line Propagating
6536958|IGL01335|16|15816896|Disrupted splicing|||MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|T|C|33|37.0|Splice|Alive, Line Propagating
6536959|IGL01335|5|115908830|Disrupted splicing|||MGI:105313|Cit|citron [Source:MGI Symbol;Acc:MGI:105313]|Heterozygous|Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors.|C|T|33|37.0|Splice|Alive, Line Propagating
6536960|IGL01335|8|45973605|Disrupted splicing|||MGI:1916729|1700029j07rik|RIKEN cDNA 1700029J07 gene [Source:MGI Symbol;Acc:MGI:1916729]|Heterozygous||A|T|29|37.0|Splice|Alive, Line Propagating
6536961|IGL01335|12|111294096|Disrupted splicing|||MGI:2136459|Cdc42bpb|CDC42 binding protein kinase beta [Source:MGI Symbol;Acc:MGI:2136459]|Heterozygous||A|G|19|37.0|Splice|Alive, Line Propagating
6536962|IGL01335|14|79345116|Disrupted splicing|||MGI:1914147|Naa16|N(alpha)-acetyltransferase 16, NatA auxiliary subunit [Source:MGI Symbol;Acc:MGI:1914147]|Heterozygous||A|T|10|38.0|Splice|Alive, Line Propagating
6537581|IGL01336|4|42793784|Q->L|0.95|Possibly damaging|MGI:1923202, MGI:3649790|Gm12394,4930578g10rik|RIKEN cDNA 4930578G10 gene [Source:MGI Symbol;Acc:MGI:1923202],predicted gene 12394 [Source:MGI Symbol;Acc:MGI:3649790]|Heterozygous||T|A|115|35.0|Non-synonymous|Alive
6537582|IGL01336|9|89991530|M->L||Benign|MGI:99694|Rasgrf1|RAS protein-specific guanine nucleotide-releasing factor 1 [Source:MGI Symbol;Acc:MGI:99694]|Heterozygous|Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning.|A|T|111|37.0|Non-synonymous|Alive
6537583|IGL01336|7|6480998|I->V||Benign|MGI:106685|Olfr5|olfactory receptor 5 [Source:MGI Symbol;Acc:MGI:106685]|Heterozygous||T|C|102|37.5|Non-synonymous|Alive
6537584|IGL01336|5|124775512|Y->C|1.0|Probably damaging|MGI:1860299|Dnahc10|dynein, axonemal, heavy chain 10 [Source:MGI Symbol;Acc:MGI:1860299]|Heterozygous||A|G|95|35.0|Non-synonymous|Alive
6537585|IGL01336|1|182431583|R->L|1.0|Probably damaging|MGI:2138319|Trp53bp2|transformation related protein 53 binding protein 2 [Source:MGI Symbol;Acc:MGI:2138319]|Heterozygous|Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types|G|T|89|36.0|Non-synonymous|Alive
6537586|IGL01336|13|112480239|S->P|0.1|Benign|MGI:96560|Il6st|interleukin 6 signal transducer [Source:MGI Symbol;Acc:MGI:96560]|Heterozygous|Homozygotes for targeted null mutations show myocardial and hematological defects and die between embryonic day 12.5 and term. Conditional mutants show female infertility and neurological, cardiac, hematopoietic, immunological, hepatic, and lung defects.|T|C|87|37.0|Non-synonymous|Alive
6537587|IGL01336|1|131273756|M->T|1.0|Probably damaging|MGI:1929612|Ikbke|inhibitor of kappaB kinase epsilon [Source:MGI Symbol;Acc:MGI:1929612]|Heterozygous|Homozygous null mice are viable and fertile.|A|G|86|35.0|Non-synonymous|Alive
6537588|IGL01336|1|160196995|W->Stop||N/A|MGI:1928141|Mrps14|mitochondrial ribosomal protein S14 [Source:MGI Symbol;Acc:MGI:1928141]|Heterozygous||G|A|83|37.0|Non-synonymous|Alive
6537589|IGL01336|11|100495910|L->I||Benign|MGI:103251|Acly|ATP citrate lyase [Source:MGI Symbol;Acc:MGI:103251]|Heterozygous|Homozygous null mutation of this gene results in embryonic lethality. Heterozygous mutants display no obvious abnormalities.|G|T|77|35.0|Non-synonymous|Alive
6537590|IGL01336|7|28413963|D->E|||MGI:2448542|Samd4b|sterile alpha motif domain containing 4B [Source:MGI Symbol;Acc:MGI:2448542]|Heterozygous||G|T|73|35.0|Non-synonymous|Alive
6537591|IGL01336|4|132499367|T->A|0.11|Benign|MGI:2651874|Sesn2|sestrin 2 [Source:MGI Symbol;Acc:MGI:2651874]|Heterozygous|Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis.|T|C|65|35.0|Non-synonymous|Alive
6537592|IGL01336|16|52186229|K->E|0.28|Benign|MGI:2146430|Cblb|Casitas B-lineage lymphoma b [Source:MGI Symbol;Acc:MGI:2146430]|Heterozygous|Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis.|A|G|62|39.0|Non-synonymous|Alive
6537593|IGL01336|10|85314164|L->P|1.0|Probably damaging|MGI:3647964|Gm8394|predicted gene 8394 [Source:MGI Symbol;Acc:MGI:3647964]|Heterozygous||T|C|60|37.0|Non-synonymous|Alive
6537594|IGL01336|17|36909377|A->E|1.0|Probably damaging|MGI:2385051|Trim31|tripartite motif-containing 31 [Source:MGI Symbol;Acc:MGI:2385051]|Heterozygous||C|A|55|35.0|Non-synonymous|Alive
6537595|IGL01336|6|34933188|Y->H|0.56|Possibly damaging|MGI:107917|Stra8|stimulated by retinoic acid gene 8 [Source:MGI Symbol;Acc:MGI:107917]|Heterozygous|Homozygous null mice display impaired meiosis.|T|C|55|34.0|Non-synonymous|Alive
6537596|IGL01336|12|35503840|V->A|0.05|Benign|MGI:105043|Ahr|aryl-hydrocarbon receptor [Source:MGI Symbol;Acc:MGI:105043]|Heterozygous|Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities.|A|G|53|36.0|Non-synonymous|Alive
6537597|IGL01336|2|166054523|S->G||Benign|MGI:1276535|Ncoa3|nuclear receptor coactivator 3 [Source:MGI Symbol;Acc:MGI:1276535]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for a targeted allele affecting phosphorylation sites exhibit increased body weight, increased adiposity, hypoactivity, abnormal glucose homeostasis, and increased susceptibility to chemically induced tumors.|A|G|51|35.0|Non-synonymous|Alive
6537598|IGL01336|5|92265133|M->R|0.01|Benign|MGI:1914361|Naaa|N-acylethanolamine acid amidase [Source:MGI Symbol;Acc:MGI:1914361]|Heterozygous||A|C|47|35.0|Non-synonymous|Alive
6537599|IGL01336|9|40782610|Stop->W||N/A|MGI:1918816|Clmp|CXADR-like membrane protein [Source:MGI Symbol;Acc:MGI:1918816]|Heterozygous||A|G|47|35.0|Non-synonymous|Alive
6537600|IGL01336|14|52490748|I->T|1.0|Probably damaging|MGI:3031341|Olfr1507|olfactory receptor 1507 [Source:MGI Symbol;Acc:MGI:3031341]|Heterozygous||A|G|46|38.5|Non-synonymous|Alive
6537601|IGL01336|6|18868278|V->A|0.03|Benign|MGI:1922446|Ankrd7|ankyrin repeat domain 7 [Source:MGI Symbol;Acc:MGI:1922446]|Heterozygous||T|C|43|35.0|Non-synonymous|Alive
6537602|IGL01336|11|110496411|Y->C|1.0|Probably damaging|MGI:1346870|Map2k6|mitogen-activated protein kinase kinase 6 [Source:MGI Symbol;Acc:MGI:1346870]|Heterozygous|Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities.|A|G|40|35.0|Non-synonymous|Alive
6537603|IGL01336|8|67501541|Y->C|1.0|Probably damaging|MGI:109201|Nat2|N-acetyltransferase 2 (arylamine N-acetyltransferase) [Source:MGI Symbol;Acc:MGI:109201]|Heterozygous|Inactivation of this gene does not result in an overt phenotype.|A|G|37|35.0|Non-synonymous|Alive
6537604|IGL01336|9|108111785|V->A|0.88|Possibly damaging|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|A|G|28|33.5|Non-synonymous|Alive
6537605|IGL01336|7|73409318|V->M|0.13|Benign|MGI:2679262|Rgma|RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]|Heterozygous||G|A|16|33.5|Non-synonymous|Alive
6537606|IGL01336|17|93203964|D->G|0.01|Benign|MGI:105094|Adcyap1|adenylate cyclase activating polypeptide 1 [Source:MGI Symbol;Acc:MGI:105094]|Heterozygous|Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities.|A|G|11|32.0|Non-synonymous|Alive
6537607|IGL01336|17|74408839|Disrupted splicing|||MGI:2386741|Slc30a6|solute carrier family 30 (zinc transporter), member 6 [Source:MGI Symbol;Acc:MGI:2386741]|Heterozygous||A|G|86|37.0|Splice|Alive
6537608|IGL01336|11|51599456|Disrupted splicing|||MGI:1920197|Agxt2l2|alanine-glyoxylate aminotransferase 2-like 2 [Source:MGI Symbol;Acc:MGI:1920197]|Heterozygous||G|A|56|37.5|Splice|Alive
6537609|IGL01336|1|14886880|Disrupted splicing|||MGI:3522699|Trpa1|transient receptor potential cation channel, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:3522699]|Heterozygous||A|C|35|39.0|Splice|Alive
6537610|IGL01336|11|11846630|Disrupted splicing|||MGI:94876|Ddc|dopa decarboxylase [Source:MGI Symbol;Acc:MGI:94876]|Heterozygous|Mice homozygous for disruptions in this gene have a lethal phenotype.|A|G|31|36.0|Splice|Alive
6537611|IGL01336|5|134935880|Disrupted splicing|||MGI:1933146|Wbscr27|Williams Beuren syndrome chromosome region 27 (human) [Source:MGI Symbol;Acc:MGI:1933146]|Heterozygous||C|T|31|36.0|Splice|Alive
6537612|IGL01336|6|34909543|Disrupted splicing|||MGI:2141558|Wdr91|WD repeat domain 91 [Source:MGI Symbol;Acc:MGI:2141558]|Heterozygous||G|A|22|39.0|Splice|Alive
6537613|IGL01336|9|36786481|Disrupted splicing|||MGI:108090|Ei24|etoposide induced 2.4 mRNA [Source:MGI Symbol;Acc:MGI:108090]|Heterozygous||A|G|19|37.0|Splice|Alive
6538198|IGL01337|17|34036631|N->S|1.0|Probably damaging|MGI:98215|Rxrb|retinoid X receptor beta [Source:MGI Symbol;Acc:MGI:98215]|Heterozygous|Mutant mice homozygous for a null mutation exhibit partial embryonic and perinatal lethality, and surviving adult males are sterile due to defects in spermatogenesis.|A|G|172|35.0|Non-synonymous|Alive, Line Propagating
6538199|IGL01337|7|5676145|I->N|0.99|Probably damaging|MGI:3033471|Vmn1r62|vomeronasal 1 receptor 62 [Source:MGI Symbol;Acc:MGI:3033471]|Heterozygous||T|A|111|37.0|Non-synonymous|Alive, Line Propagating
6538200|IGL01337|3|145095178|Y->C|1.0|Probably damaging|MGI:2139758|Clca5|chloride channel calcium activated 5 [Source:MGI Symbol;Acc:MGI:2139758]|Heterozygous|Mice homozygous for a targeted null mutation exhibit increases in liver weight to body weight ratio and hepatocyte hypertrophy; one incidence of multifocal hepatic necrosis.|T|C|103|34.0|Non-synonymous|Alive, Line Propagating
6538201|IGL01337|10|9629024|Y->F||Benign|MGI:2444815|Samd5|sterile alpha motif domain containing 5 [Source:MGI Symbol;Acc:MGI:2444815]|Heterozygous||T|A|95|35.0|Non-synonymous|Alive, Line Propagating
6538202|IGL01337|10|127750786|I->F|||MGI:109545|Gpr182|G protein-coupled receptor 182 [Source:MGI Symbol;Acc:MGI:109545]|Heterozygous||T|A|81|36.0|Non-synonymous|Alive, Line Propagating
6538203|IGL01337|10|40595314|F->L|0.17|Benign|MGI:1918090|Slc22a16|solute carrier family 22 (organic cation transporter), member 16 [Source:MGI Symbol;Acc:MGI:1918090]|Heterozygous||T|C|73|35.0|Non-synonymous|Alive, Line Propagating
6538204|IGL01337|2|110620373|C->Stop||N/A|MGI:2138890|Slc5a12|solute carrier family 5 (sodium/glucose cotransporter), member 12 [Source:MGI Symbol;Acc:MGI:2138890]|Heterozygous||T|A|71|35.0|Non-synonymous|Alive, Line Propagating
6538205|IGL01337|10|21691615|T->A||Unknown|MGI:3645721|Gm5420|predicted gene 5420 [Source:MGI Symbol;Acc:MGI:3645721]|Heterozygous||A|G|66|34.0|Non-synonymous|Alive, Line Propagating
6538206|IGL01337|2|20785387|S->P||Benign|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||T|C|58|35.0|Non-synonymous|Alive, Line Propagating
6538207|IGL01337|6|5491869|M->L|0.99|Probably damaging|MGI:1351481|Pdk4|pyruvate dehydrogenase kinase, isoenzyme 4 [Source:MGI Symbol;Acc:MGI:1351481]|Heterozygous|Mice homozygous for a knock-out allele exhibit altered glucose homoeostasis during starvation.|T|A|58|36.0|Non-synonymous|Alive, Line Propagating
6538208|IGL01337|2|25376479|Stop->W||N/A|MGI:1919330|2010317e24rik|RIKEN cDNA 2010317E24 gene [Source:MGI Symbol;Acc:MGI:1919330]|Heterozygous|Mice homozygous for disruptions in this gene display an apparently normal phenotype.|A|G|57|36.0|Non-synonymous|Alive, Line Propagating
6538209|IGL01337|6|121668570|Y->H|1.0|Probably damaging|MGI:2449119|A2m|alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]|Heterozygous||T|C|54|36.0|Non-synonymous|Alive, Line Propagating
6538210|IGL01337|5|135045664|I->T|0.92|Possibly damaging|MGI:109355|Stx1a|syntaxin 1A (brain) [Source:MGI Symbol;Acc:MGI:109355]|Heterozygous|Homozygous mice for one targeted mutation display impairments in LTP, cued fear memory consolidation and cued fear memory extinction while mice with another targeted mutation show no behavioral abnormalities.|T|C|51|37.0|Non-synonymous|Alive, Line Propagating
6538211|IGL01337|17|34205412|I->V||Unknown|MGI:98484|Tap2|transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) [Source:MGI Symbol;Acc:MGI:98484]|Heterozygous|Homozygous mutant mice have no CD8+ T cells, although their numbers of CD4+ T cells and B cells are normal.|A|G|47|34.0|Non-synonymous|Alive, Line Propagating
6538212|IGL01337|8|64983735|D->G|0.9|Possibly damaging|MGI:2685640|Trim75|tripartite motif-containing 75 [Source:MGI Symbol;Acc:MGI:2685640]|Heterozygous||T|C|46|35.5|Non-synonymous|Alive, Line Propagating
6538213|IGL01337|13|8570246|L->P||Benign|MGI:2151118|Adarb2|adenosine deaminase, RNA-specific, B2 [Source:MGI Symbol;Acc:MGI:2151118]|Heterozygous||T|C|44|32.0|Non-synonymous|Alive, Line Propagating
6538214|IGL01337|2|89609376|I->T|0.02|Benign|MGI:3031081|Olfr1247|olfactory receptor 1247 [Source:MGI Symbol;Acc:MGI:3031081]|Heterozygous||A|G|42|36.5|Non-synonymous|Alive, Line Propagating
6538215|IGL01337|5|30405777|A->S|0.2|Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|C|A|41|35.0|Non-synonymous|Alive, Line Propagating
6538216|IGL01337|9|80136510|Y->H|0.02|Benign|MGI:1922075|Senp6|SUMO/sentrin specific peptidase 6 [Source:MGI Symbol;Acc:MGI:1922075]|Heterozygous||T|C|38|37.0|Non-synonymous|Alive, Line Propagating
6538217|IGL01337|3|126365114|Y->C|1.0|Probably damaging|MGI:2443513|Arsj|arylsulfatase J [Source:MGI Symbol;Acc:MGI:2443513]|Heterozygous||A|G|35|35.0|Non-synonymous|Alive, Line Propagating
6538218|IGL01337|15|4905024|M->V|0.9|Possibly damaging|MGI:1921905|Heatr7b2|XVHEAT repeat family member 7B2 [Source:MGI Symbol;Acc:MGI:1921905]|Heterozygous||A|G|33|38.0|Non-synonymous|Alive, Line Propagating
6538219|IGL01337|9|18327373|D->A|0.68|Possibly damaging|MGI:1919810|Naalad2|N-acetylated alpha-linked acidic dipeptidase 2 [Source:MGI Symbol;Acc:MGI:1919810]|Heterozygous||T|G|27|39.0|Non-synonymous|Alive, Line Propagating
6538220|IGL01337|13|100056192|P->L||Unknown|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||G|A|26|38.0|Non-synonymous|Alive, Line Propagating
6538221|IGL01337|14|121460679|E->G|0.99|Probably damaging|MGI:1861376|Slc15a1|solute carrier family 15 (oligopeptide transporter), member 1 [Source:MGI Symbol;Acc:MGI:1861376]|Heterozygous|Peptide uptake in the intestine is substantially reduced in mice homozygous for a null mutation of this gene.|T|C|26|34.0|Non-synonymous|Alive, Line Propagating
6538222|IGL01337|4|87840820|D->E|0.86|Possibly damaging|MGI:1917372|Mllt3|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 [Source:MGI Symbol;Acc:MGI:1917372]|Heterozygous|About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra.|A|C|20|37.5|Non-synonymous|Alive, Line Propagating
6538223|IGL01337|8|25809864|G->E|1.0|Probably damaging|MGI:102760|Star|steroidogenic acute regulatory protein [Source:MGI Symbol;Acc:MGI:102760]|Heterozygous|Homozygous null mice fail to thrive and die during the postnatal period due to adrenocortical insufficiency. Mice exhibit male pseudohermaprhoditism and show a progressive accumulation of lipids within steroidogenic cells of the adrenal glands and gonads.|G|A|20|36.5|Non-synonymous|Alive, Line Propagating
6538224|IGL01337|12|51802274|I->T|||MGI:2384768|Hectd1|HECT domain containing 1 [Source:MGI Symbol;Acc:MGI:2384768]|Heterozygous|Mice homozygous for a null mutation display perinatal lethality, exencephaly, impaired neural fold elevation, abnormal head mesenchyme morhology, and defects in eye and cranial vault morphology.|A|G|18|37.0|Non-synonymous|Alive, Line Propagating
6538225|IGL01337|5|137069331|V->L|||MGI:97608|Serpine1|serine (or cysteine) peptidase inhibitor, clade E, member 1 [Source:MGI Symbol;Acc:MGI:97608]|Heterozygous|Although mice homozygous for disruptions in this gene display an essentially normal phenotype, a mild blood clotting defect does exist.|C|A|18|33.0|Non-synonymous|Alive, Line Propagating
6538226|IGL01337|14|47530217|S->P|0.92|Possibly damaging|MGI:1926188|Fbxo34|F-box protein 34 [Source:MGI Symbol;Acc:MGI:1926188]|Heterozygous||T|C|16|36.5|Non-synonymous|Alive, Line Propagating
6538227|IGL01337|17|26924744|T->A|0.08|Benign|MGI:2137414|Kifc5b|kinesin family member C5B [Source:MGI Symbol;Acc:MGI:2137414]|Heterozygous||A|G|16|34.5|Non-synonymous|Alive, Line Propagating
6538228|IGL01337|11|102000585|T->A||Benign|MGI:1328354|Mpp3|membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) [Source:MGI Symbol;Acc:MGI:1328354]|Heterozygous||T|C|13|34.0|Non-synonymous|Alive, Line Propagating
6538229|IGL01337|4|118236291|Y->H|1.0|Probably damaging|MGI:102695|Ptprf|protein tyrosine phosphatase, receptor type, F [Source:MGI Symbol;Acc:MGI:102695]|Heterozygous||A|G|13|31.0|Non-synonymous|Alive, Line Propagating
6538230|IGL01337|5|30419512|D->G|0.03|Benign|MGI:1891247|Otof|otoferlin [Source:MGI Symbol;Acc:MGI:1891247]|Heterozygous|Homozygous mutants have no detectable auditory brainstem response at any frequency tested. Otoacoustic transmission distortion products are detected. Direct electrical stimulation of cochlear ganglia elicits brainstem responses. On depolarization, inner hair cells release almost no neurotransmitter.|T|C|11|34.0|Non-synonymous|Alive, Line Propagating
6538231|IGL01337|13|38192687|D->N|0.19|Benign|MGI:109611|Dsp|desmoplakin [Source:MGI Symbol;Acc:MGI:109611]|Heterozygous|Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes.|G|A|10|37.0|Non-synonymous|Alive, Line Propagating
6538232|IGL01337|18|43737151|Disrupted splicing|||MGI:106202|Spink3|serine peptidase inhibitor, Kazal type 3 [Source:MGI Symbol;Acc:MGI:106202]|Heterozygous|Mice homozygous for a disruption in this gene results in postnatal lethality, growth retardation, dehydration, autophagic degeneration of acinar cells resulting in pancreas trophy, small intestine degeneration, and a small spleen.|G|A|35|37.0|Splice|Alive, Line Propagating
6538823|IGL01338|17|37771839|H->L|0.84|Possibly damaging|MGI:2177505|Olfr122|olfactory receptor 122 [Source:MGI Symbol;Acc:MGI:2177505]|Heterozygous||A|T|270|36.0|Non-synonymous|Alive, Line Propagating
6538824|IGL01338|7|39589156|H->Y|||MGI:3805010|Gm2058|predicted gene 2058 [Source:MGI Symbol;Acc:MGI:3805010]|Heterozygous||C|T|230|38.0|Non-synonymous|Alive, Line Propagating
6538825|IGL01338|15|80348380|I->V|0.88|Possibly damaging|MGI:2178051|Cacna1i|calcium channel, voltage-dependent, alpha 1I subunit [Source:MGI Symbol;Acc:MGI:2178051]|Heterozygous||A|G|219|35.0|Non-synonymous|Alive, Line Propagating
6538826|IGL01338|4|19627636|I->T|0.99|Probably damaging|MGI:1861728, MGI:3699710|Wwp1,gm12353|WW domain containing E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:1861728],predicted gene 12353 [Source:MGI Symbol;Acc:MGI:3699710]|Heterozygous||A|G|142|37.0|Non-synonymous|Alive, Line Propagating
6538827|IGL01338|4|41174119|I->V||Benign|MGI:1914865|Ube2r2|ubiquitin-conjugating enzyme E2R 2 [Source:MGI Symbol;Acc:MGI:1914865]|Heterozygous||A|G|131|38.0|Non-synonymous|Alive, Line Propagating
6538828|IGL01338|7|65695222|C->Stop||N/A|MGI:1915884|Tm2d3|TM2 domain containing 3 [Source:MGI Symbol;Acc:MGI:1915884]|Heterozygous||T|A|130|37.0|Non-synonymous|Alive, Line Propagating
6538829|IGL01338|10|68025519|C->F|0.49|Possibly damaging|MGI:2158417|Rtkn2|rhotekin 2 [Source:MGI Symbol;Acc:MGI:2158417]|Heterozygous||G|T|125|35.0|Non-synonymous|Alive, Line Propagating
6538830|IGL01338|10|57501379|F->L|1.0|Probably damaging|MGI:96239|Hsf2|heat shock factor 2 [Source:MGI Symbol;Acc:MGI:96239]|Heterozygous|Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males.|T|C|98|37.0|Non-synonymous|Alive, Line Propagating
6538831|IGL01338|11|120793092|R->C|0.98|Probably damaging|MGI:1915980|Dus1l|dihydrouridine synthase 1-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915980]|Heterozygous||G|A|96|34.0|Non-synonymous|Alive, Line Propagating
6538832|IGL01338|3|58417415|L->S|1.0|Probably damaging|MGI:1919283|Tsc22d2|TSC22 domain family, member 2 [Source:MGI Symbol;Acc:MGI:1919283]|Heterozygous||T|C|96|36.0|Non-synonymous|Alive, Line Propagating
6538833|IGL01338|7|26759417|M->I|0.02|Benign|MGI:107303|Cyp2b19|cytochrome P450, family 2, subfamily b, polypeptide 19 [Source:MGI Symbol;Acc:MGI:107303]|Heterozygous||G|T|82|36.0|Non-synonymous|Alive, Line Propagating
6538834|IGL01338|19|56404464|S->P|0.07|Benign|MGI:109383|Casp7|caspase 7 [Source:MGI Symbol;Acc:MGI:109383]|Heterozygous|Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development.|T|C|79|35.0|Non-synonymous|Alive, Line Propagating
6538835|IGL01338|5|140358096|R->C|0.96|Probably damaging|MGI:2443816|Snx8|sorting nexin 8 [Source:MGI Symbol;Acc:MGI:2443816]|Heterozygous||G|A|72|35.0|Non-synonymous|Alive, Line Propagating
6538836|IGL01338|8|85040526|L->P|0.03|Benign|MGI:2384849|Tnpo2|transportin 2 (importin 3, karyopherin beta 2b) [Source:MGI Symbol;Acc:MGI:2384849]|Heterozygous||T|C|72|36.5|Non-synonymous|Alive, Line Propagating
6538837|IGL01338|1|71626210|E->G|0.95|Possibly damaging|MGI:95566|Fn1|fibronectin 1 [Source:MGI Symbol;Acc:MGI:95566]|Heterozygous|Mutants are defective in mesodermal function. Null mutants are embryonic lethal with major patterning and organizational defects. Conditional mutants live and show increased neuronal apoptosis and susceptibility to induced cerebral ischemia.|T|C|55|34.0|Non-synonymous|Alive, Line Propagating
6538838|IGL01338|6|113394729|V->G|0.87|Possibly damaging|MGI:2141418|Ttll3|tubulin tyrosine ligase-like family, member 3 [Source:MGI Symbol;Acc:MGI:2141418]|Heterozygous||T|G|49|35.0|Non-synonymous|Alive, Line Propagating
6538839|IGL01338|2|25338227|K->E||Benign|MGI:2684954|Man1b1|mannosidase, alpha, class 1B, member 1 [Source:MGI Symbol;Acc:MGI:2684954]|Heterozygous||A|G|47|37.0|Non-synonymous|Alive, Line Propagating
6538840|IGL01338|7|99813422|G->W|1.0|Probably damaging|MGI:1355305|Neu3|neuraminidase 3 [Source:MGI Symbol;Acc:MGI:1355305]|Heterozygous||C|A|45|34.0|Non-synonymous|Alive, Line Propagating
6538841|IGL01338|12|89255034|I->V|||MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|A|G|42|37.0|Non-synonymous|Alive, Line Propagating
6538842|IGL01338|11|71010355|F->S|0.06|Benign|MGI:2151483|Derl2|Der1-like domain family, member 2 [Source:MGI Symbol;Acc:MGI:2151483]|Heterozygous|Mice homozygous for a knock-out allele exhibit partial neonatal lethality with surviving mice exhibiting male sterility, inverted rib cage, abnormal chondrocytes in the ribs, lethality during pregancy, cachexia, and premature death.|A|G|41|34.0|Non-synonymous|Alive, Line Propagating
6538844|IGL01338|12|30002797|E->G|1.0|Probably damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||A|G|40|35.0|Non-synonymous|Alive, Line Propagating
6538845|IGL01338|4|145088322|T->I|0.81|Possibly damaging|MGI:2448530|Vps13d|vacuolar protein sorting 13 D (yeast) [Source:MGI Symbol;Acc:MGI:2448530]|Heterozygous||G|A|40|40.0|Non-synonymous|Alive, Line Propagating
6538846|IGL01338|4|98820099|S->P||Unknown|MGI:3588230|I0c0044d17rik|RIKEN cDNA I0C0044D17 gene [Source:MGI Symbol;Acc:MGI:3588230]|Heterozygous||A|G|39|38.0|Non-synonymous|Alive, Line Propagating
6538847|IGL01338|10|111267747|K->R|0.99|Probably damaging|MGI:2443807|Osbpl8|oxysterol binding protein-like 8 [Source:MGI Symbol;Acc:MGI:2443807]|Heterozygous||A|G|38|37.0|Non-synonymous|Alive, Line Propagating
6538848|IGL01338|16|90926048|N->S|0.67|Possibly damaging|MGI:1915251|1110004e09rik|RIKEN cDNA 1110004E09 gene [Source:MGI Symbol;Acc:MGI:1915251]|Heterozygous||T|C|37|35.0|Non-synonymous|Alive, Line Propagating
6538849|IGL01338|3|49756141|N->Y|1.0|Probably damaging|MGI:1920423|Pcdh18|protocadherin 18 [Source:MGI Symbol;Acc:MGI:1920423]|Heterozygous||T|A|36|35.0|Non-synonymous|Alive, Line Propagating
6538850|IGL01338|10|27188272|E->K|||MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|C|T|35|39.0|Non-synonymous|Alive, Line Propagating
6538851|IGL01338|11|7208478|F->I|0.32|Benign|MGI:96438|Igfbp3|insulin-like growth factor binding protein 3 [Source:MGI Symbol;Acc:MGI:96438]|Heterozygous|Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight and hepatic carbohydrate and lipid metabolism when fed a high-fat diet.|A|T|35|35.0|Non-synonymous|Alive, Line Propagating
6538852|IGL01338|11|16863020|I->V|0.31|Benign|MGI:95294|Egfr|epidermal growth factor receptor [Source:MGI Symbol;Acc:MGI:95294]|Heterozygous|Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis.|A|G|35|35.0|Non-synonymous|Alive, Line Propagating
6538853|IGL01338|13|70836115|C->Y|1.0|Probably damaging|MGI:2429637|Adamts16|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 16 [Source:MGI Symbol;Acc:MGI:2429637]|Heterozygous||C|T|35|35.0|Non-synonymous|Alive, Line Propagating
6538854|IGL01338|15|99718175|V->E|0.93|Possibly damaging|MGI:95679|Gpd1|glycerol-3-phosphate dehydrogenase 1 (soluble) [Source:MGI Symbol;Acc:MGI:95679]|Heterozygous|Mice homozygous for a spontaneous mutation are viable and phenotypically normal but show loss of glycerol-3-phosphate dehydrogenase 1 activity in adult tissues.|T|A|34|34.0|Non-synonymous|Alive, Line Propagating
6538855|IGL01338|13|37931034|C->R|0.45|Possibly damaging|MGI:2443664|Rreb1|ras responsive element binding protein 1 [Source:MGI Symbol;Acc:MGI:2443664]|Heterozygous||T|C|30|34.0|Non-synonymous|Alive, Line Propagating
6538856|IGL01338|9|119120911|E->G|0.98|Probably damaging|MGI:2443671|Dlec1|deleted in lung and esophageal cancer 1 [Source:MGI Symbol;Acc:MGI:2443671]|Heterozygous||A|G|27|35.0|Non-synonymous|Alive, Line Propagating
6538857|IGL01338|7|109919404|Y->C|0.41|Benign|MGI:1201681|Dennd5a|DENN/MADD domain containing 5A [Source:MGI Symbol;Acc:MGI:1201681]|Heterozygous||T|C|24|36.0|Non-synonymous|Alive, Line Propagating
6538858|IGL01338|8|117059520|K->Stop||N/A|MGI:2664668|Pkd1l2|polycystic kidney disease 1 like 2 [Source:MGI Symbol;Acc:MGI:2664668]|Heterozygous||T|A|24|34.5|Non-synonymous|Alive, Line Propagating
6538859|IGL01338|7|19279254|D->E|0.1|Benign|MGI:2142330|Ppm1n|protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) [Source:MGI Symbol;Acc:MGI:2142330]|Heterozygous||A|T|21|35.0|Non-synonymous|Alive, Line Propagating
6538860|IGL01338|18|20047157|K->E|0.08|Benign|MGI:103221|Dsc2|desmocollin 2 [Source:MGI Symbol;Acc:MGI:103221]|Heterozygous||T|C|19|35.0|Non-synonymous|Alive, Line Propagating
6538861|IGL01338|12|76060226|T->S|0.02|Benign|MGI:2449316|Syne2|synaptic nuclear envelope 2 [Source:MGI Symbol;Acc:MGI:2449316]|Heterozygous|Homozygotes for one knock-out allele show normal myonuclear positioning of both synaptic and non-synaptic nuclei in skeletal muscle cells. Homozygotes for another knock-out allele exhibit a thickened epidermis and altered nuclear envelope architecture in primary dermal fibroblasts and keratinocytes.|A|T|17|35.0|Non-synonymous|Alive, Line Propagating
6538862|IGL01338|15|99249501|I->N|1.0|Probably damaging|MGI:1858420|Mcrs1|microspherule protein 1 [Source:MGI Symbol;Acc:MGI:1858420]|Heterozygous||A|T|15|37.0|Non-synonymous|Alive, Line Propagating
6538863|IGL01338|2|24435919|S->P|0.49|Possibly damaging|MGI:97492|Pax8|paired box gene 8 [Source:MGI Symbol;Acc:MGI:97492]|Heterozygous|Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age.|A|G|15|37.0|Non-synonymous|Alive, Line Propagating
6538864|IGL01338|6|53974655|S->C|0.67|Possibly damaging|MGI:1918537|Cpvl|carboxypeptidase, vitellogenic-like [Source:MGI Symbol;Acc:MGI:1918537]|Heterozygous|Mice homozygous for a transposon insertion allele die prior to birth.|T|A|14|38.0|Non-synonymous|Alive, Line Propagating
6538865|IGL01338|9|110455433|Y->H|1.0|Probably damaging|MGI:2143315|Klhl18|kelch-like 18 (Drosophila) [Source:MGI Symbol;Acc:MGI:2143315]|Heterozygous||A|G|12|32.0|Non-synonymous|Alive, Line Propagating
6538866|IGL01338|1|63551855|T->A|0.88|Possibly damaging|MGI:1345162|Adam23|a disintegrin and metallopeptidase domain 23 [Source:MGI Symbol;Acc:MGI:1345162]|Heterozygous|Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia.|A|G|11|39.0|Non-synonymous|Alive, Line Propagating
6538867|IGL01338|6|122049628|Disrupted splicing|||MGI:99836|Mug2|murinoglobulin 2 [Source:MGI Symbol;Acc:MGI:99836]|Heterozygous||T|C|163|37.0|Splice|Alive, Line Propagating
6538869|IGL01338|9|57538022|Disrupted splicing|||MGI:1925573|2310046o06rik|RIKEN cDNA 2310046O06 gene [Source:MGI Symbol;Acc:MGI:1925573]|Heterozygous||A|T|49|36.0|Splice|Alive, Line Propagating
6538870|IGL01338|4|135471883|Disrupted splicing|||MGI:1921802|Nipal3|NIPA-like domain containing 3 [Source:MGI Symbol;Acc:MGI:1921802]|Heterozygous|Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities.|A|C|21|35.0|Splice|Alive, Line Propagating
6538871|IGL01338|9|119784161|Disrupted splicing|||MGI:1345149|Scn11a|sodium channel, voltage-gated, type XI, alpha [Source:MGI Symbol;Acc:MGI:1345149]|Heterozygous|Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal.|G|A|13|37.0|Splice|Alive, Line Propagating
6539475|IGL01339|15|82403841|A->T|1.0|Probably damaging|MGI:88602|Cyp2d10|cytochrome P450, family 2, subfamily d, polypeptide 10 [Source:MGI Symbol;Acc:MGI:88602]|Heterozygous||C|T|196|35.0|Non-synonymous|Alive, Line Propagating
6539476|IGL01339|11|103497937|S->P|0.95|Possibly damaging|MGI:2685097|Lrrc37a|leucine rich repeat containing 37A [Source:MGI Symbol;Acc:MGI:2685097]|Heterozygous||A|G|163|34.0|Non-synonymous|Alive, Line Propagating
6539477|IGL01339|14|69719406|I->N|1.0|Probably damaging|MGI:1913922|Chmp7|charged multivesicular body protein 7 [Source:MGI Symbol;Acc:MGI:1913922]|Heterozygous||A|T|149|34.0|Non-synonymous|Alive, Line Propagating
6539478|IGL01339|4|104827985|F->V||Benign|MGI:2668347|C8a|complement component 8, alpha polypeptide [Source:MGI Symbol;Acc:MGI:2668347]|Heterozygous||A|C|93|35.0|Non-synonymous|Alive, Line Propagating
6539479|IGL01339|2|66325960|R->H|0.03|Benign|MGI:98246|Scn1a|sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethality, seizures, and abnormal behavior. Mice heterozygous for a knock-out allele exhibit premature death and seizures associated with abnormal nervous system electrophysiology.|C|T|88|35.0|Non-synonymous|Alive, Line Propagating
6539480|IGL01339|3|94628287|D->E|0.37|Benign|MGI:109572|Tuft1|tuftelin 1 [Source:MGI Symbol;Acc:MGI:109572]|Heterozygous||A|T|83|36.0|Non-synonymous|Alive, Line Propagating
6539481|IGL01339|9|119622766|V->M|||MGI:108029|Scn10a|sodium channel, voltage-gated, type X, alpha [Source:MGI Symbol;Acc:MGI:108029]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired perception of pain.|C|T|80|36.0|Non-synonymous|Alive, Line Propagating
6539482|IGL01339|15|101032201|D->V|||MGI:103169|Scn8a|sodium channel, voltage-gated, type VIII, alpha [Source:MGI Symbol;Acc:MGI:103169]|Heterozygous|Spontaneous mutant homozygotes have ataxia, dystonia, muscular atrophy, progressive paralysis, Purkinje cell loss, in some cases severe head-tossing and for severe alleles, juvenile lethality. A mild, semidominant ENU allele causes deafness of variable penetrance and severity and mild tremor.|A|T|78|35.5|Non-synonymous|Alive, Line Propagating
6539483|IGL01339|13|24430549|D->V|1.0|Probably damaging|MGI:103227|Cmah|cytidine monophospho-N-acetylneuraminic acid hydroxylase [Source:MGI Symbol;Acc:MGI:103227]|Heterozygous|Mice with homozygous mutation of Cmah show subtle incidence of lethality, with slightly abnormal B and T cell physiolgy, including cytokine production in response to stimulation.|A|T|74|35.0|Non-synonymous|Alive, Line Propagating
6539484|IGL01339|6|113553752|I->V||Benign|MGI:2448480|Fancd2|Fanconi anemia, complementation group D2 [Source:MGI Symbol;Acc:MGI:2448480]|Heterozygous|Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.|A|G|73|37.0|Non-synonymous|Alive, Line Propagating
6539485|IGL01339|17|24057775|V->E|1.0|Probably damaging|MGI:1916509|Kctd5|potassium channel tetramerisation domain containing 5 [Source:MGI Symbol;Acc:MGI:1916509]|Heterozygous||A|T|60|35.0|Non-synonymous|Alive, Line Propagating
6539486|IGL01339|11|120289512|T->A|0.94|Possibly damaging|MGI:2679272|Bahcc1|BAH domain and coiled-coil containing 1 [Source:MGI Symbol;Acc:MGI:2679272]|Heterozygous||A|G|59|34.0|Non-synonymous|Alive, Line Propagating
6539487|IGL01339|16|37631730|T->P|0.09|Benign|MGI:96078|Hgd|homogentisate 1, 2-dioxygenase [Source:MGI Symbol;Acc:MGI:96078]|Heterozygous|Mutations in this gene result in high levels of urinary homogentisic acid.|A|C|57|35.0|Non-synonymous|Alive, Line Propagating
6539488|IGL01339|1|52188708|D->N|1.0|Probably damaging|MGI:95752|Gls|glutaminase [Source:MGI Symbol;Acc:MGI:95752]|Heterozygous|Homozygotes for targeted null mutations are born normal, but die within 1 day postnatally. Homozygous mutant show abnormal respiratory function, and do not exhibit normal goal-oriented behavior toward dam before death.|C|T|56|35.5|Non-synonymous|Alive, Line Propagating
6539489|IGL01339|12|112040434|V->M|1.0|Probably damaging|MGI:1921941|Tdrd9|tudor domain containing 9 [Source:MGI Symbol;Acc:MGI:1921941]|Heterozygous|Male homozygous mice are sterile, displaying small testis, arrest of male meiosis and abnormal spermatocyte morphology. Females are fertile.|G|A|56|35.5|Non-synonymous|Alive, Line Propagating
6539490|IGL01339|5|124777212|K->N|1.0|Probably damaging|MGI:1860299|Dnahc10|dynein, axonemal, heavy chain 10 [Source:MGI Symbol;Acc:MGI:1860299]|Heterozygous||G|T|56|35.0|Non-synonymous|Alive, Line Propagating
6539491|IGL01339|3|95128297|R->H|0.48|Possibly damaging|MGI:1355285|Tmod4|tropomodulin 4 [Source:MGI Symbol;Acc:MGI:1355285]|Heterozygous||G|A|55|35.0|Non-synonymous|Alive, Line Propagating
6539492|IGL01339|14|77481178|V->A||Unknown|MGI:3647788|Gm6994|predicted gene 6994 [Source:MGI Symbol;Acc:MGI:3647788]|Heterozygous||A|G|54|35.5|Non-synonymous|Alive, Line Propagating
6539493|IGL01339|2|137044055|C->Stop||N/A|MGI:2149372, MGI:3759759, MGI:3622822, MGI:104739, MGI:1921493, MGI:1345664, MGI:3703760, MGI:2445327|2210009g21rik|RIKEN cDNA 2210009G21 gene [Source:MGI Symbol;Acc:MGI:1921493]|Heterozygous||T|A|53|38.0|Non-synonymous|Alive, Line Propagating
6539494|IGL01339|2|158009130|P->Q|0.88|Possibly damaging|MGI:1922675|Tti1|TELO2 interacting protein 1 [Source:MGI Symbol;Acc:MGI:1922675]|Heterozygous||G|T|52|39.0|Non-synonymous|Alive, Line Propagating
6539495|IGL01339|2|119752974|D->V|1.0|Probably damaging|MGI:96840|Ltk|leukocyte tyrosine kinase [Source:MGI Symbol;Acc:MGI:96840]|Heterozygous||T|A|50|35.0|Non-synonymous|Alive, Line Propagating
6539496|IGL01339|7|101507159|S->P||Benign|MGI:2446107|Pde2a|phosphodiesterase 2A, cGMP-stimulated [Source:MGI Symbol;Acc:MGI:2446107]|Heterozygous|Mice homozygous for a knock-out allele exhibit lethality between E17 and E18.|T|C|50|35.0|Non-synonymous|Alive, Line Propagating
6539497|IGL01339|14|87480794|V->I|0.18|Benign|MGI:2444023|Tdrd3|tudor domain containing 3 [Source:MGI Symbol;Acc:MGI:2444023]|Heterozygous||G|A|47|35.0|Non-synonymous|Alive, Line Propagating
6539498|IGL01339|11|61450477|D->E|0.21|Benign|MGI:106611|Rnf112|ring finger protein 112 [Source:MGI Symbol;Acc:MGI:106611]|Heterozygous||A|T|46|38.0|Non-synonymous|Alive, Line Propagating
6539499|IGL01339|4|136542776|M->K|1.0|Probably damaging|MGI:107629|Luzp1|leucine zipper protein 1 [Source:MGI Symbol;Acc:MGI:107629]|Heterozygous|Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate.|T|A|45|37.0|Non-synonymous|Alive, Line Propagating
6539500|IGL01339|3|95338580|L->Stop||N/A|MGI:1934229|Setdb1|SET domain, bifurcated 1 [Source:MGI Symbol;Acc:MGI:1934229]|Heterozygous|Homozygous inactivation of this locus results in peri-implantation lethality. Inner cell mass growth is impaired in null blastocysts.|A|T|44|38.0|Non-synonymous|Alive, Line Propagating
6539501|IGL01339|11|45909019|V->A|0.99|Probably damaging|MGI:2144243|Clint1|clathrin interactor 1 [Source:MGI Symbol;Acc:MGI:2144243]|Heterozygous||T|C|43|35.0|Non-synonymous|Alive, Line Propagating
6539502|IGL01339|19|4745972|Y->Stop||N/A|MGI:3054746, MGI:5439461, MGI:1313261|Spnb3|spectrin beta 3 [Source:MGI Symbol;Acc:MGI:1313261]|Heterozygous|Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing rate in surviving Purkinje cells.|T|G|41|38.0|Non-synonymous|Alive, Line Propagating
6539503|IGL01339|1|91168964|I->V|0.05|Benign|MGI:2685663|Rbm44|RNA binding motif protein 44 [Source:MGI Symbol;Acc:MGI:2685663]|Heterozygous||A|G|40|39.5|Non-synonymous|Alive, Line Propagating
6539504|IGL01339|15|97758059|L->M|1.0|Probably damaging|MGI:2441741|Rapgef3|Rap guanine nucleotide exchange factor (GEF) 3 [Source:MGI Symbol;Acc:MGI:2441741]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis.|A|T|37|36.0|Non-synonymous|Alive, Line Propagating
6539505|IGL01339|7|86726098|T->I|1.0|Probably damaging|MGI:1858193|Folh1|folate hydrolase 1 [Source:MGI Symbol;Acc:MGI:1858193]|Heterozygous|Homozygous mutation of this gene results in protection from peripheral neuropathy and ischemic brain injury. Mutant mice also exhibit increased food intake, increased anxiety-related behavior, smaller sciatic nerve axons, and impaired angiogenesis.|G|A|36|37.5|Non-synonymous|Alive, Line Propagating
6539506|IGL01339|10|89591244|I->F|1.0|Probably damaging|MGI:3039629|Slc17a8|solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 [Source:MGI Symbol;Acc:MGI:3039629]|Heterozygous||T|A|35|39.0|Non-synonymous|Alive, Line Propagating
6539507|IGL01339|7|73417483|E->G|0.1|Benign|MGI:2679262|Rgma|RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]|Heterozygous||A|G|34|35.0|Non-synonymous|Alive, Line Propagating
6539508|IGL01339|14|65975588|E->G|0.16|Benign|MGI:88423|Clu|clusterin [Source:MGI Symbol;Acc:MGI:88423]|Heterozygous|Homozygous mutation of this gene results in increased severity of experimentally-induced autoimmune myocarditis. Mutant hearts become pale and enlarged and exhibit 3-fold greater tissue injury compared to wild-type hearts.|A|G|33|36.0|Non-synonymous|Alive, Line Propagating
6539509|IGL01339|14|12486543|V->M|0.64|Possibly damaging|MGI:1350922|Cadps|Ca2+-dependent secretion activator [Source:MGI Symbol;Acc:MGI:1350922]|Heterozygous|Homozygous null mice display neonatal lethality, respiratory failure and abnormal adrenal gland physiology. Adult heterozygous null mice display abnormal adrenal gland physiology that is different from that seen in homozygous neonates.|C|T|32|34.5|Non-synonymous|Alive, Line Propagating
6539510|IGL01339|19|4620235|F->Y||Benign|MGI:97520|Pcx|pyruvate carboxylase [Source:MGI Symbol;Acc:MGI:97520]|Heterozygous||T|A|32|34.0|Non-synonymous|Alive, Line Propagating
6539511|IGL01339|3|49755798|I->T|0.12|Benign|MGI:1920423|Pcdh18|protocadherin 18 [Source:MGI Symbol;Acc:MGI:1920423]|Heterozygous||A|G|32|38.5|Non-synonymous|Alive, Line Propagating
6539512|IGL01339|6|112310625|I->V||Benign|MGI:1353635|Lmcd1|LIM and cysteine-rich domains 1 [Source:MGI Symbol;Acc:MGI:1353635]|Heterozygous||A|G|32|34.5|Non-synonymous|Alive, Line Propagating
6539513|IGL01339|12|28864771|E->G|1.0|Probably damaging|MGI:1289332|Tssc1|tumor suppressing subtransferable candidate 1 [Source:MGI Symbol;Acc:MGI:1289332]|Heterozygous||A|G|30|35.0|Non-synonymous|Alive, Line Propagating
6539514|IGL01339|9|86551677|D->N|||MGI:1289294|Dopey1|dopey family member 1 [Source:MGI Symbol;Acc:MGI:1289294]|Heterozygous||G|A|30|37.0|Non-synonymous|Alive, Line Propagating
6539515|IGL01339|7|4427624|S->R|1.0|Probably damaging|MGI:1918732|Rdh13|retinol dehydrogenase 13 (all-trans and 9-cis) [Source:MGI Symbol;Acc:MGI:1918732]|Heterozygous||A|T|29|34.0|Non-synonymous|Alive, Line Propagating
6539516|IGL01339|17|24422299|D->E|1.0|Probably damaging|MGI:97960|Rnps1|ribonucleic acid binding protein S1 [Source:MGI Symbol;Acc:MGI:97960]|Heterozygous||T|A|28|35.0|Non-synonymous|Alive, Line Propagating
6539517|IGL01339|6|129465486|W->R|1.0|Probably damaging|MGI:1861431|Clec7a|C-type lectin domain family 7, member a [Source:MGI Symbol;Acc:MGI:1861431]|Heterozygous|Mutations in this gene result in increased susceptibility and defective inflammatory responses in response to fungal infection.|A|T|28|35.0|Non-synonymous|Alive, Line Propagating
6539518|IGL01339|1|106029775|S->P|1.0|Probably damaging|MGI:2444114|Zcchc2|zinc finger, CCHC domain containing 2 [Source:MGI Symbol;Acc:MGI:2444114]|Heterozygous||T|C|27|36.0|Non-synonymous|Alive, Line Propagating
6539519|IGL01339|18|60818095|D->G|||MGI:892003|Tcof1|Treacher Collins Franceschetti syndrome 1, homolog [Source:MGI Symbol;Acc:MGI:892003]|Heterozygous|Heterozygotes for a targeted null mutation die perinatally with severe craniofacial malformations including agenesis of the nasal passages, abnormal development of the maxilla, exencephaly, and anophthalmia.|T|C|26|35.0|Non-synonymous|Alive, Line Propagating
6539520|IGL01339|4|141074965|T->I|0.02|Benign|MGI:1913397|Necap2|NECAP endocytosis associated 2 [Source:MGI Symbol;Acc:MGI:1913397]|Heterozygous||G|A|25|35.0|Non-synonymous|Alive, Line Propagating
6539521|IGL01339|18|58113370|T->A|0.1|Benign|MGI:95490|Fbn2|fibrillin 2 [Source:MGI Symbol;Acc:MGI:95490]|Heterozygous|Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene.|T|C|24|35.0|Non-synonymous|Alive, Line Propagating
6539522|IGL01339|3|146042836|Y->C|0.01|Benign|MGI:3045269|Wdr63|WD repeat domain 63 [Source:MGI Symbol;Acc:MGI:3045269]|Heterozygous||T|C|23|37.0|Non-synonymous|Alive, Line Propagating
6539523|IGL01339|3|62604297|W->R|1.0|Probably damaging|MGI:2443628|Gpr149|G protein-coupled receptor 149 [Source:MGI Symbol;Acc:MGI:2443628]|Heterozygous|Female mice homozygous for a knock-out allele exhibit increased fertility with increased litter size and frequency.|A|T|19|35.0|Non-synonymous|Alive, Line Propagating
6539524|IGL01339|18|35648346|H->L||Benign|MGI:1917066|2010001m09rik|RIKEN cDNA 2010001M09 gene [Source:MGI Symbol;Acc:MGI:1917066]|Heterozygous||T|A|18|34.0|Non-synonymous|Alive, Line Propagating
6539525|IGL01339|2|21369031|D->G|1.0|Probably damaging|MGI:2441697|Gpr158|G protein-coupled receptor 158 [Source:MGI Symbol;Acc:MGI:2441697]|Heterozygous||A|G|18|33.0|Non-synonymous|Alive, Line Propagating
6539526|IGL01339|10|79729068|L->P|0.99|Probably damaging|MGI:1298210|Hcn2|hyperpolarization-activated, cyclic nucleotide-gated K+ 2 [Source:MGI Symbol;Acc:MGI:1298210]|Heterozygous|Mice homozygous for a null allele exhibit decreased body weight, absence seizures, and behavioral/neurological abnormalities.|T|C|16|32.5|Non-synonymous|Alive, Line Propagating
6539527|IGL01339|16|36970454|E->G|1.0|Probably damaging|MGI:2443753|Fbxo40|F-box protein 40 [Source:MGI Symbol;Acc:MGI:2443753]|Heterozygous||T|C|14|33.5|Non-synonymous|Alive, Line Propagating
6539528|IGL01339|3|90415156|Disrupted splicing|||MGI:2140050|Ints3|integrator complex subunit 3 [Source:MGI Symbol;Acc:MGI:2140050]|Heterozygous||A|G|103|36.0|Splice|Alive, Line Propagating
6539530|IGL01339|5|34184346|Disrupted splicing|||MGI:104991|Mxd4|Max dimerization protein 4 [Source:MGI Symbol;Acc:MGI:104991]|Heterozygous||G|A|70|36.0|Splice|Alive, Line Propagating
6539531|IGL01339|6|33305400|Disrupted splicing|||MGI:1096376|Exoc4|exocyst complex component 4 [Source:MGI Symbol;Acc:MGI:1096376]|Heterozygous|Mice homozygous for disruptions in this gene display embryonic abnormatlities. Gastrulation is not completed and mesoderm formation is abnormal. Death occurs before E10.5.|T|C|69|38.0|Splice|Alive, Line Propagating
6539532|IGL01339|5|87885896|Disrupted splicing|||MGI:1916842|Odam|odontogenic, ameloblast asssociated [Source:MGI Symbol;Acc:MGI:1916842]|Heterozygous||G|A|65|38.0|Splice|Alive, Line Propagating
6539533|IGL01339|14|73264371|Disrupted splicing|||MGI:97874|Rb1|retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.|T|C|43|39.0|Splice|Alive, Line Propagating
6539534|IGL01339|1|132518905|Disrupted splicing|||MGI:104518|Cntn2|contactin 2 [Source:MGI Symbol;Acc:MGI:104518]|Heterozygous|Targeted mutation of this locus results in molecular abnormalities in the central nervous system.|A|T|28|34.0|Splice|Alive, Line Propagating
6539535|IGL01339|14|68086482|Disrupted splicing|||MGI:97313|Nefl|neurofilament, light polypeptide [Source:MGI Symbol;Acc:MGI:97313]|Heterozygous|Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number.|A|G|27|35.0|Splice|Alive, Line Propagating
6540173|IGL01340|6|142109383|N->K|0.35|Benign|MGI:1351906|Slco1a6|solute carrier organic anion transporter family, member 1a6 [Source:MGI Symbol;Acc:MGI:1351906]|Heterozygous||A|T|337|37.0|Non-synonymous|Alive, Line Propagating
6540174|IGL01340|6|28883369|V->E||Benign|MGI:1929266|Snd1|staphylococcal nuclease and tudor domain containing 1 [Source:MGI Symbol;Acc:MGI:1929266]|Heterozygous||T|A|174|35.0|Non-synonymous|Alive, Line Propagating
6540175|IGL01340|6|53896451|Y->Stop||N/A|MGI:1918537|Cpvl|carboxypeptidase, vitellogenic-like [Source:MGI Symbol;Acc:MGI:1918537]|Heterozygous|Mice homozygous for a transposon insertion allele die prior to birth.|A|T|155|34.0|Non-synonymous|Alive, Line Propagating
6540176|IGL01340|12|21330057|C->Stop||N/A|MGI:1096335|Adam17|a disintegrin and metallopeptidase domain 17 [Source:MGI Symbol;Acc:MGI:1096335]|Heterozygous|Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs.|A|T|147|37.0|Non-synonymous|Alive, Line Propagating
6540177|IGL01340|1|119953620|I->F|0.33|Benign|MGI:2684947|Gm101|predicted gene 101 [Source:MGI Symbol;Acc:MGI:2684947]|Heterozygous||T|A|132|37.0|Non-synonymous|Alive, Line Propagating
6540178|IGL01340|5|90891575|C->F|1.0|Probably damaging|MGI:108068|Cxcl1|chemokine (C-X-C motif) ligand 1 [Source:MGI Symbol;Acc:MGI:108068]|Heterozygous|Targeted mutations in this gene when combine with targeted mutation of Ldlr decreases susceptibility to atherosclerotic lesions.|G|T|121|35.0|Non-synonymous|Alive, Line Propagating
6540179|IGL01340|8|95760537|D->G|0.99|Probably damaging|MGI:2442402|Cnot1|CCR4-NOT transcription complex, subunit 1 [Source:MGI Symbol;Acc:MGI:2442402]|Heterozygous||T|C|119|35.0|Non-synonymous|Alive, Line Propagating
6540180|IGL01340|4|42971984|E->A|0.65|Possibly damaging|MGI:1914567|1700022i11rik|RIKEN cDNA 1700022I11 gene [Source:MGI Symbol;Acc:MGI:1914567]|Heterozygous||A|C|104|35.0|Non-synonymous|Alive, Line Propagating
6540181|IGL01340|11|82981751|F->I|0.78|Possibly damaging|MGI:2445121|Slfn9|schlafen 9 [Source:MGI Symbol;Acc:MGI:2445121]|Heterozygous||A|T|103|37.0|Non-synonymous|Alive, Line Propagating
6540182|IGL01340|7|73417330|F->S|1.0|Probably damaging|MGI:2679262|Rgma|RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]|Heterozygous||T|C|99|37.0|Non-synonymous|Alive, Line Propagating
6540183|IGL01340|15|89352872|F->S|1.0|Probably damaging|MGI:2146015|Lmf2|lipase maturation factor 2 [Source:MGI Symbol;Acc:MGI:2146015]|Heterozygous||A|G|85|35.0|Non-synonymous|Alive, Line Propagating
6540184|IGL01340|1|20522977|N->K|0.02|Benign|MGI:2155808|Pkhd1|polycystic kidney and hepatic disease 1 [Source:MGI Symbol;Acc:MGI:2155808]|Heterozygous|Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.|A|T|82|38.0|Non-synonymous|Alive, Line Propagating
6540185|IGL01340|4|65323872|D->V|0.1|Benign|MGI:97479|Pappa|pregnancy-associated plasma protein A [Source:MGI Symbol;Acc:MGI:97479]|Heterozygous|Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile.|A|T|73|39.0|Non-synonymous|Alive, Line Propagating
6540186|IGL01340|12|54754309|R->Q|0.99|Probably damaging|MGI:1919433|Snx6|sorting nexin 6 [Source:MGI Symbol;Acc:MGI:1919433]|Heterozygous||C|T|69|38.0|Non-synonymous|Alive, Line Propagating
6540187|IGL01340|3|75105650|E->G|0.45|Possibly damaging|MGI:2674085|Zbbx|zinc finger, B-box domain containing [Source:MGI Symbol;Acc:MGI:2674085]|Heterozygous||T|C|69|35.0|Non-synonymous|Alive, Line Propagating
6540188|IGL01340|16|44404130|Y->C|0.02|Benign|MGI:1277238|Wdr52|WD repeat domain 52 [Source:MGI Symbol;Acc:MGI:1277238]|Heterozygous||A|G|62|33.5|Non-synonymous|Alive, Line Propagating
6540189|IGL01340|2|88896977|T->A|0.98|Probably damaging|MGI:3031042|Olfr1208|olfactory receptor 1208 [Source:MGI Symbol;Acc:MGI:3031042]|Heterozygous||T|C|59|35.0|Non-synonymous|Alive, Line Propagating
6540190|IGL01340|8|3945892|R->H||Benign|MGI:2157945|Cd209c|CD209c antigen [Source:MGI Symbol;Acc:MGI:2157945]|Heterozygous||C|T|59|35.0|Non-synonymous|Alive, Line Propagating
6540191|IGL01340|15|12834023|M->K||Unknown|MGI:1261425|Drosha|drosha, ribonuclease type III [Source:MGI Symbol;Acc:MGI:1261425]|Heterozygous||T|A|56|34.5|Non-synonymous|Alive, Line Propagating
6540192|IGL01340|8|94937629|L->P|1.0|Probably damaging|MGI:2685955|Gpr114|G protein-coupled receptor 114 [Source:MGI Symbol;Acc:MGI:2685955]|Heterozygous||T|C|53|36.0|Non-synonymous|Alive, Line Propagating
6540193|IGL01340|7|4742141|R->Stop||N/A|MGI:2385262|Suv420h2|suppressor of variegation 4-20 homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2385262]|Heterozygous|Mice homozygous for a knock-out allele exhibit no apparent defects and develop normally.|C|T|52|36.0|Non-synonymous|Alive, Line Propagating
6540194|IGL01340|3|101439679|Y->Stop||N/A|MGI:1926158|Igsf3|immunoglobulin superfamily, member 3 [Source:MGI Symbol;Acc:MGI:1926158]|Heterozygous||C|A|49|35.0|Non-synonymous|Alive, Line Propagating
6540196|IGL01340|11|69493184|K->E|0.18|Benign|MGI:107731|Dnahc2|dynein, axonemal, heavy chain 2 [Source:MGI Symbol;Acc:MGI:107731]|Heterozygous||T|C|43|35.0|Non-synonymous|Alive, Line Propagating
6540197|IGL01340|6|34904579|S->P||Benign|MGI:2141558|Wdr91|WD repeat domain 91 [Source:MGI Symbol;Acc:MGI:2141558]|Heterozygous||A|G|43|34.0|Non-synonymous|Alive, Line Propagating
6540198|IGL01340|5|143684435|L->Stop||N/A|MGI:1335107|Cyth3|cytohesin 3 [Source:MGI Symbol;Acc:MGI:1335107]|Heterozygous||T|A|38|37.0|Non-synonymous|Alive, Line Propagating
6540199|IGL01340|2|27960451|L->P||Unknown|MGI:88457|Col5a1|collagen, type V, alpha 1 [Source:MGI Symbol;Acc:MGI:88457]|Heterozygous|Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome.|T|C|36|34.0|Non-synonymous|Alive, Line Propagating
6540200|IGL01340|16|66784785|I->N|0.04|Benign|MGI:2442722|Cadm2|cell adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:2442722]|Heterozygous||A|T|33|35.0|Non-synonymous|Alive, Line Propagating
6540201|IGL01340|18|42202577|V->A|0.02|Benign|MGI:1913808|Lars|leucyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1913808]|Heterozygous||A|G|33|35.0|Non-synonymous|Alive, Line Propagating
6540202|IGL01340|8|3614381|D->E|1.0|Probably damaging|MGI:1914689|Xab2|XPA binding protein 2 [Source:MGI Symbol;Acc:MGI:1914689]|Heterozygous|Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction.|A|T|33|33.0|Non-synonymous|Alive, Line Propagating
6540203|IGL01340|7|30444418|T->I|0.82|Possibly damaging|MGI:88046|Aplp1|amyloid beta (A4) precursor-like protein 1 [Source:MGI Symbol;Acc:MGI:88046]|Heterozygous|Animals homozygous for a mutation in this gene show a 10% decrease in body weight at 9 weeks of age.|G|A|32|35.0|Non-synonymous|Alive, Line Propagating
6540204|IGL01340|18|66859158|A->T||Benign|MGI:99457|Mc4r|melanocortin 4 receptor [Source:MGI Symbol;Acc:MGI:99457]|Heterozygous|Mutations in this gene result in hyperglycemia and weight gain.|C|T|31|37.0|Non-synonymous|Alive, Line Propagating
6540205|IGL01340|11|110130627|I->L||Benign|MGI:2386796|Abca9|ATP-binding cassette, sub-family A (ABC1), member 9 [Source:MGI Symbol;Acc:MGI:2386796]|Heterozygous||T|A|24|39.0|Non-synonymous|Alive, Line Propagating
6540206|IGL01340|15|76004036|D->V|0.06|Benign|MGI:2145900|Fam83h|family with sequence similarity 83, member H [Source:MGI Symbol;Acc:MGI:2145900]|Heterozygous||T|A|24|34.0|Non-synonymous|Alive, Line Propagating
6540207|IGL01340|3|87788714|E->V|0.5|Possibly damaging|MGI:97383|Ntrk1|neurotrophic tyrosine kinase, receptor, type 1 [Source:MGI Symbol;Acc:MGI:97383]|Heterozygous|Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling.|T|A|19|34.0|Non-synonymous|Alive, Line Propagating
6540208|IGL01340|8|40597422|Y->C|1.0|Probably damaging|MGI:1891693|Mtmr7|myotubularin related protein 7 [Source:MGI Symbol;Acc:MGI:1891693]|Heterozygous||T|C|16|37.0|Non-synonymous|Alive, Line Propagating
6540209|IGL01340|9|65275974|S->P|0.96|Probably damaging|MGI:2444507|Cilp|cartilage intermediate layer protein, nucleotide pyrophosphohydrolase [Source:MGI Symbol;Acc:MGI:2444507]|Heterozygous||T|C|16|35.0|Non-synonymous|Alive, Line Propagating
6540210|IGL01340|16|31456843|W->R|0.93|Possibly damaging|MGI:1919161|Bdh1|3-hydroxybutyrate dehydrogenase, type 1 [Source:MGI Symbol;Acc:MGI:1919161]|Heterozygous||T|A|14|35.0|Non-synonymous|Alive, Line Propagating
6540211|IGL01340|4|107374147|V->A|1.0|Probably damaging|MGI:1920037|Tmem48|transmembrane protein 48 [Source:MGI Symbol;Acc:MGI:1920037]|Heterozygous||T|C|14|36.0|Non-synonymous|Alive, Line Propagating
6540212|IGL01340|3|30929884|I->F|1.0|Probably damaging|MGI:2181434|Phc3|polyhomeotic-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2181434]|Heterozygous||T|A|13|37.0|Non-synonymous|Alive, Line Propagating
6540213|IGL01340|9|119337352|Disrupted splicing|||MGI:108005|Myd88|myeloid differentiation primary response gene 88 [Source:MGI Symbol;Acc:MGI:108005]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology.|A|C|43|35.0|Splice|Alive, Line Propagating
6540214|IGL01340|17|25100129|Disrupted splicing|||MGI:1918968|Telo2|TEL2, telomere maintenance 2, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918968]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5.|G|A|32|36.5|Splice|Alive, Line Propagating
6540215|IGL01340|8|70515443|Disrupted splicing|||MGI:1922870|Kxd1|KxDL motif containing 1 [Source:MGI Symbol;Acc:MGI:1922870]|Heterozygous||T|C|22|34.5|Splice|Alive, Line Propagating
6540216|IGL01340|2|14310084|Disrupted splicing|||MGI:97142|Mrc1|mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]|Heterozygous|Male homozygotes for one targeted null mutation are reported to die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable.|T|C|21|38.0|Splice|Alive, Line Propagating
6540839|IGL01341|5|75607074|I->T|0.99|Probably damaging|MGI:96677|Kit|kit oncogene [Source:MGI Symbol;Acc:MGI:96677]|Heterozygous|Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hemopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.|T|C|395|35.0|Non-synonymous|Alive, Line Propagating
6540840|IGL01341|17|35383002|V->E|1.0|Probably damaging|MGI:95933|H2-q4|histocompatibility 2, Q region locus 4 [Source:MGI Symbol;Acc:MGI:95933]|Heterozygous|This locus controls an antigen on peripheral T-cells of spleen, lymph node and bone marrow, but not on thymocytes. Strain distribution patterns vary by assay, measuring presence/absence of antigen, protein acidic/basic qualities and molecular polymorphisms.|T|A|326|36.0|Non-synonymous|Alive, Line Propagating
6540841|IGL01341|10|129722878|T->I|1.0|Probably damaging|MGI:3030639|Olfr805|olfactory receptor 805 [Source:MGI Symbol;Acc:MGI:3030639]|Heterozygous||G|A|207|38.0|Non-synonymous|Alive, Line Propagating
6540842|IGL01341|12|30002487|S->P|1.0|Probably damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||T|C|183|33.0|Non-synonymous|Alive, Line Propagating
6540843|IGL01341|19|44790688|S->G|0.04|Benign|MGI:97486|Pax2|paired box gene 2 [Source:MGI Symbol;Acc:MGI:97486]|Heterozygous|Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney.|A|G|174|35.0|Non-synonymous|Alive, Line Propagating
6540844|IGL01341|2|121343210|C->Stop||N/A|MGI:2443281|Ppip5k1|diphosphoinositol pentakisphosphate kinase 1 [Source:MGI Symbol;Acc:MGI:2443281]|Heterozygous||A|T|129|35.0|Non-synonymous|Alive, Line Propagating
6540845|IGL01341|4|133248060|R->L|0.9|Possibly damaging|MGI:1855691|Map3k6|mitogen-activated protein kinase kinase kinase 6 [Source:MGI Symbol;Acc:MGI:1855691]|Heterozygous|Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis.|G|T|104|36.0|Non-synonymous|Alive, Line Propagating
6540846|IGL01341|13|60798999|D->N||Benign|MGI:1917452|Ctsll3|cathepsin L-like 3 [Source:MGI Symbol;Acc:MGI:1917452]|Heterozygous||C|T|88|36.0|Non-synonymous|Alive, Line Propagating
6540847|IGL01341|2|144585733|S->P|0.74|Possibly damaging|MGI:1350925|Sec23b|SEC23B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1350925]|Heterozygous||T|C|85|35.0|Non-synonymous|Alive, Line Propagating
6540848|IGL01341|6|43283991|R->H|0.99|Probably damaging|MGI:1858952|Arhgef5|Rho guanine nucleotide exchange factor (GEF) 5 [Source:MGI Symbol;Acc:MGI:1858952]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model.|G|A|74|35.0|Non-synonymous|Alive, Line Propagating
6540849|IGL01341|11|75445601|D->G|||MGI:2681828|Wdr81|WD repeat domain 81 [Source:MGI Symbol;Acc:MGI:2681828]|Heterozygous||T|C|70|35.0|Non-synonymous|Alive, Line Propagating
6540850|IGL01341|X|165324566|D->G|0.74|Possibly damaging|MGI:95748|Glra2|glycine receptor, alpha 2 subunit [Source:MGI Symbol;Acc:MGI:95748]|Heterozygous|Mice homozygous for a null allele lack cortical neuron responses to glycine and taurine but are otherwise normal.|T|C|67|37.0|Non-synonymous|Alive, Line Propagating
6540851|IGL01341|1|21272883|M->V|||MGI:2677454|Cetn4|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3KMS3]|Heterozygous||A|G|65|37.0|Non-synonymous|Alive, Line Propagating
6540852|IGL01341|19|9011703|H->Q|0.27|Benign|MGI:1316648|Ahnak|AHNAK nucleoprotein (desmoyokin) [Source:MGI Symbol;Acc:MGI:1316648]|Heterozygous|Mice homozygous for one knock-out allele exhibit decreaed T cell proliferation and increased susceptibility to parasitic infection.|T|A|65|38.0|Non-synonymous|Alive, Line Propagating
6540853|IGL01341|5|21969079|I->F|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|T|A|42|37.0|Non-synonymous|Alive, Line Propagating
6540855|IGL01341|2|87093299|I->L||Benign|MGI:3030943|Olfr1109|olfactory receptor 1109 [Source:MGI Symbol;Acc:MGI:3030943]|Heterozygous||T|A|38|36.5|Non-synonymous|Alive, Line Propagating
6540856|IGL01341|2|178457447|D->V|0.98|Probably damaging|MGI:2685856|Cdh26|cadherin-like 26 [Source:MGI Symbol;Acc:MGI:2685856]|Heterozygous||A|T|38|37.5|Non-synonymous|Alive, Line Propagating
6540857|IGL01341|8|111994974|I->V||Benign|MGI:1934754|Kars|lysyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1934754]|Heterozygous||T|C|38|36.5|Non-synonymous|Alive, Line Propagating
6540858|IGL01341|6|48658767|S->G|1.0|Probably damaging|MGI:2685303|Gimap8|GTPase, IMAP family member 8 [Source:MGI Symbol;Acc:MGI:2685303]|Heterozygous||A|G|36|35.0|Non-synonymous|Alive, Line Propagating
6540859|IGL01341|16|55990931|L->R|||MGI:1915443|Rpl24|ribosomal protein L24 [Source:MGI Symbol;Acc:MGI:1915443]|Heterozygous|Heterozygous mutants have short kinked tail, ventral spotting, malocclusion, white feet, and anomalies of the spine and eyes; homozygotes die in utero.|T|G|35|36.0|Non-synonymous|Alive, Line Propagating
6540860|IGL01341|2|76730319|V->A|0.78|Possibly damaging|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|G|34|35.0|Non-synonymous|Alive, Line Propagating
6540861|IGL01341|2|32975991|Q->L|1.0|Probably damaging|MGI:1860103|Slc2a8|solute carrier family 2, (facilitated glucose transporter), member 8 [Source:MGI Symbol;Acc:MGI:1860103]|Heterozygous|Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration.|T|A|32|35.0|Non-synonymous|Alive, Line Propagating
6540862|IGL01341|3|64015440|I->T|0.72|Possibly damaging|MGI:2448526|Gmps|guanine monophosphate synthetase [Source:MGI Symbol;Acc:MGI:2448526]|Heterozygous||T|C|32|38.0|Non-synonymous|Alive, Line Propagating
6540863|IGL01341|8|45915240|D->E||Benign|MGI:1859274|Pdlim3|PDZ and LIM domain 3 [Source:MGI Symbol;Acc:MGI:1859274]|Heterozygous|Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults.|T|A|32|33.5|Non-synonymous|Alive, Line Propagating
6540864|IGL01341|9|44757192|I->T|0.3|Benign|MGI:2387591|Arcn1|archain 1 [Source:MGI Symbol;Acc:MGI:2387591]|Heterozygous|Mice homozygous for a spontaneous mutation have a dilute coat color and neurological defects.|A|G|32|39.0|Non-synonymous|Alive, Line Propagating
6540865|IGL01341|5|123704569|V->A|0.24|Benign|MGI:1917900|Zcchc8|zinc finger, CCHC domain containing 8 [Source:MGI Symbol;Acc:MGI:1917900]|Heterozygous||A|G|30|34.5|Non-synonymous|Alive, Line Propagating
6540866|IGL01341|6|35070254|V->A|0.95|Probably damaging|MGI:1859026|Cnot4|CCR4-NOT transcription complex, subunit 4 [Source:MGI Symbol;Acc:MGI:1859026]|Heterozygous||A|G|26|36.5|Non-synonymous|Alive, Line Propagating
6540867|IGL01341|7|45916134|Y->H|||MGI:1917459|Tmem143|transmembrane protein 143 [Source:MGI Symbol;Acc:MGI:1917459]|Heterozygous||T|C|22|35.0|Non-synonymous|Alive, Line Propagating
6540868|IGL01341|4|101175093|G->S|0.73|Possibly damaging|MGI:96628|Jak1|Janus kinase 1 [Source:MGI Symbol;Acc:MGI:96628]|Heterozygous|Mice homozygous for disruption of this gene die within the first 24 hours after birth.|C|T|19|36.0|Non-synonymous|Alive, Line Propagating
6540869|IGL01341|8|109948417|T->S|||MGI:1920858|Marveld3|MARVEL (membrane-associating) domain containing 3 [Source:MGI Symbol;Acc:MGI:1920858]|Heterozygous||T|A|16|34.5|Non-synonymous|Alive, Line Propagating
6540870|IGL01341|3|122276612|I->T|1.0|Probably damaging|MGI:1923173|Dnttip2|deoxynucleotidyltransferase, terminal, interacting protein 2 [Source:MGI Symbol;Acc:MGI:1923173]|Heterozygous||T|C|11|39.0|Non-synonymous|Alive, Line Propagating
6540872|IGL01341|15|76662898|Disrupted splicing|||MGI:109187|Kifc2|kinesin family member C2 [Source:MGI Symbol;Acc:MGI:109187]|Heterozygous|Mice homozygous for this targeted mutation are viable, fertile, and phenotypically normal in terms of development, organ morphology and behavior.|T|C|60|34.0|Splice|Alive, Line Propagating
6540873|IGL01341|8|88591552|Disrupted splicing|||MGI:2135954|Nkd1|naked cuticle 1 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2135954]|Heterozygous|Homozygous null mice display reduced male fertility with oligozoospermia, small testis, and small seminiferous tubules.|G|A|45|35.0|Splice|Alive, Line Propagating
6540874|IGL01341|13|113093884|Disrupted splicing|||MGI:109266|Gzma|granzyme A [Source:MGI Symbol;Acc:MGI:109266]|Heterozygous||A|G|40|37.5|Splice|Alive, Line Propagating
6541469|IGL01342|X|149628492|R->Q||Unknown|MGI:3710525|Gm10439|predicted gene 10439 [Source:MGI Symbol;Acc:MGI:3710525]|Heterozygous||G|A|182|39.0|Non-synonymous|Alive
6541470|IGL01342|7|14082765|W->R|1.0|Probably damaging|MGI:3645873|Sult2a3|sulfotransferase family 2A, dehydroepiandrosterone (DHEA)-preferring, member 3 [Source:MGI Symbol;Acc:MGI:3645873]|Heterozygous||A|G|163|38.0|Non-synonymous|Alive
6541471|IGL01342|12|70346658|C->S|1.0|Probably damaging|MGI:2137354|Trim9|tripartite motif-containing 9 [Source:MGI Symbol;Acc:MGI:2137354]|Heterozygous||A|T|125|35.0|Non-synonymous|Alive
6541472|IGL01342|3|93073954|V->A|0.03|Benign|MGI:3645677|Gm4858|predicted gene 4858 [Source:MGI Symbol;Acc:MGI:3645677]|Heterozygous||T|C|108|35.0|Non-synonymous|Alive
6541473|IGL01342|12|119261315|D->G|||MGI:3648259|Gm6768|predicted gene 6768 [Source:MGI Symbol;Acc:MGI:3648259]|Heterozygous||A|G|100|38.0|Non-synonymous|Alive
6541474|IGL01342|X|93561907|M->R|1.0|Probably damaging|MGI:99660|Pola1|polymerase (DNA directed), alpha 1 [Source:MGI Symbol;Acc:MGI:99660]|Heterozygous||A|C|82|36.0|Non-synonymous|Alive
6541475|IGL01342|2|118757454|N->K|0.27|Benign|MGI:2685199|A430105i19rik|RIKEN cDNA A430105I19 gene [Source:MGI Symbol;Acc:MGI:2685199]|Heterozygous||A|T|69|37.0|Non-synonymous|Alive
6541476|IGL01342|7|79424254|C->F|0.95|Possibly damaging|MGI:2384790|Fanci|Fanconi anemia, complementation group I [Source:MGI Symbol;Acc:MGI:2384790]|Heterozygous||G|T|66|38.0|Non-synonymous|Alive
6541477|IGL01342|16|44221589|S->N|0.96|Probably damaging|MGI:2685454|Gm608|predicted gene 608 [Source:MGI Symbol;Acc:MGI:2685454]|Heterozygous||G|A|65|36.0|Non-synonymous|Alive
6541478|IGL01342|5|142720142|S->R|1.0|Probably damaging|MGI:2385330|Slc29a4|solute carrier family 29 (nucleoside transporters), member 4 [Source:MGI Symbol;Acc:MGI:2385330]|Heterozygous||T|A|65|36.0|Non-synonymous|Alive
6541479|IGL01342|4|120976952|M->R|0.51|Possibly damaging|MGI:1917030|Smap2|stromal membrane-associated GTPase-activating protein 2 [Source:MGI Symbol;Acc:MGI:1917030]|Heterozygous||A|C|64|35.0|Non-synonymous|Alive
6541480|IGL01342|3|100144565|D->G|0.49|Possibly damaging|MGI:2443143|Wdr3|WD repeat domain 3 [Source:MGI Symbol;Acc:MGI:2443143]|Heterozygous||T|C|62|36.5|Non-synonymous|Alive
6541481|IGL01342|4|148943279|C->S|0.46|Possibly damaging|MGI:1196251|Casz1|castor zinc finger 1 [Source:MGI Symbol;Acc:MGI:1196251]|Heterozygous||T|A|54|35.0|Non-synonymous|Alive
6541482|IGL01342|18|31962296|N->D|0.11|Benign|MGI:107709|Myo7b|myosin VIIB [Source:MGI Symbol;Acc:MGI:107709]|Heterozygous||T|C|51|35.0|Non-synonymous|Alive
6541483|IGL01342|2|105000299|V->A|1.0|Probably damaging|MGI:1351744|Eif3m|eukaryotic translation initiation factor 3, subunit M [Source:MGI Symbol;Acc:MGI:1351744]|Heterozygous||A|G|46|34.0|Non-synonymous|Alive
6541484|IGL01342|12|64957511|V->A|0.88|Possibly damaging|MGI:1913939|Klhl28|kelch-like 28 (Drosophila) [Source:MGI Symbol;Acc:MGI:1913939]|Heterozygous||A|G|43|35.0|Non-synonymous|Alive
6541485|IGL01342|6|103665948|Q->Stop||N/A|MGI:1098266|Chl1|cell adhesion molecule with homology to L1CAM [Source:MGI Symbol;Acc:MGI:1098266]|Heterozygous|Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior.|C|T|43|37.0|Non-synonymous|Alive
6541486|IGL01342|7|31033004|Q->Stop||N/A|MGI:1201785|Fxyd5|FXYD domain-containing ion transport regulator 5 [Source:MGI Symbol;Acc:MGI:1201785]|Heterozygous||G|A|42|35.0|Non-synonymous|Alive
6541487|IGL01342|12|24074364|N->K|0.39|Benign|MGI:1914058|9030624g23rik|RIKEN cDNA 9030624G23 gene [Source:MGI Symbol;Acc:MGI:1914058]|Heterozygous||A|T|38|37.0|Non-synonymous|Alive
6541488|IGL01342|10|78178221|A->E|0.49|Possibly damaging|MGI:1341200|Pwp2|PWP2 periodic tryptophan protein homolog (yeast) [Source:MGI Symbol;Acc:MGI:1341200]|Heterozygous||G|T|35|37.0|Non-synonymous|Alive
6541489|IGL01342|2|134501078|T->A|0.86|Possibly damaging|MGI:96011|Hao1|hydroxyacid oxidase 1, liver [Source:MGI Symbol;Acc:MGI:96011]|Heterozygous|Electrophoretic variants are known for this locus. The a allele determines a fast migrating band in BALB/c, CBA/H, C3H/He and C57BL/6; the b allele, a slow band in NZC; the c allele, the fastest band in DBA/Li, NFS/N, STS, 101/H and 129.|T|C|34|34.0|Non-synonymous|Alive
6541490|IGL01342|7|56219816|R->Q|1.0|Probably damaging|MGI:103234|Herc2|hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2 [Source:MGI Symbol;Acc:MGI:103234]|Heterozygous|Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene.|G|A|33|32.0|Non-synonymous|Alive
6541491|IGL01342|9|36754833|S->P|1.0|Probably damaging|MGI:105124|Stt3a|STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:105124]|Heterozygous||A|G|33|37.0|Non-synonymous|Alive
6541492|IGL01342|5|147886789|L->S|1.0|Probably damaging|MGI:1918956|Slc46a3|solute carrier family 46, member 3 [Source:MGI Symbol;Acc:MGI:1918956]|Heterozygous||A|G|28|34.5|Non-synonymous|Alive
6541493|IGL01342|X|13640167|N->Y|1.0|Probably damaging|MGI:1309489, MGI:1346334|Gpr34,cask|G protein-coupled receptor 34 [Source:MGI Symbol;Acc:MGI:1346334],calcium/calmodulin-dependent serine protein kinase (MAGUK family) [Source:MGI Symbol;Acc:MGI:1309489]|Heterozygous|Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout.,Mice homozygous for a knock-out allele exhibit increased monocyte migration and susceptibility to type IV hypersensitivity and fungal infection.|A|T|28|39.0|Non-synonymous|Alive
6541494|IGL01342|10|12744192|H->Q||Benign|MGI:104631|Utrn|utrophin [Source:MGI Symbol;Acc:MGI:104631]|Heterozygous|Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy.|A|T|26|38.0|Non-synonymous|Alive
6541495|IGL01342|9|48489877|S->P|0.03|Benign|MGI:1914260|Rbm7|RNA binding motif protein 7 [Source:MGI Symbol;Acc:MGI:1914260]|Heterozygous||A|G|26|34.0|Non-synonymous|Alive
6541496|IGL01342|4|11597964|I->T||Benign|MGI:3605986|Rad54b|RAD54 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3605986]|Heterozygous||T|C|24|36.5|Non-synonymous|Alive
6541497|IGL01342|2|33034719|F->L||Benign|MGI:2139309|Garnl3|GTPase activating RANGAP domain-like 3 [Source:MGI Symbol;Acc:MGI:2139309]|Heterozygous||A|G|23|32.0|Non-synonymous|Alive
6541498|IGL01342|1|75502962|S->R|0.99|Probably damaging|MGI:2138628|Obsl1|obscurin-like 1 [Source:MGI Symbol;Acc:MGI:2138628]|Heterozygous||A|T|21|35.0|Non-synonymous|Alive
6541499|IGL01342|3|95626855|M->K|0.71|Possibly damaging|MGI:1891189|Ensa|endosulfine alpha [Source:MGI Symbol;Acc:MGI:1891189]|Heterozygous||T|A|19|38.0|Non-synonymous|Alive
6541500|IGL01342|14|68626877|R->S|0.99|Probably damaging|MGI:105988|Adam28|a disintegrin and metallopeptidase domain 28 [Source:MGI Symbol;Acc:MGI:105988]|Heterozygous||T|G|18|36.0|Non-synonymous|Alive
6541501|IGL01342|7|139086156|I->V||Benign|MGI:1349764|Dpysl4|dihydropyrimidinase-like 4 [Source:MGI Symbol;Acc:MGI:1349764]|Heterozygous|Homozygous null mice exhibit abnormal neurite outgrowth and lamination in the hippocampus, altered dendrite arborization and spine morphology in hippocampal pyramidal cells, and impaired LTP induction in the CA1 region.|A|G|18|35.0|Non-synonymous|Alive
6541502|IGL01342|4|63975325|V->M|1.0|Probably damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|C|T|16|35.5|Non-synonymous|Alive
6541503|IGL01342|6|83767740|S->P|0.92|Possibly damaging|MGI:1922555|Ankrd53|ankyrin repeat domain 53 [Source:MGI Symbol;Acc:MGI:1922555]|Heterozygous||T|C|14|36.5|Non-synonymous|Alive
6541504|IGL01342|9|15308658|I->V||Benign|MGI:1922566|Taf1d|TATA box binding protein (Tbp)-associated factor, RNA polymerase I, D [Source:MGI Symbol;Acc:MGI:1922566]|Heterozygous||A|G|14|35.5|Non-synonymous|Alive
6541505|IGL01342|X|12673040|W->R|0.22|Benign|MGI:1916405|1810030o07rik|RIKEN cDNA 1810030O07 gene [Source:MGI Symbol;Acc:MGI:1916405]|Heterozygous||A|T|12|37.0|Non-synonymous|Alive
6541506|IGL01342|7|142081867|V->A||Unknown|MGI:106626|Dusp8|dual specificity phosphatase 8 [Source:MGI Symbol;Acc:MGI:106626]|Heterozygous||A|G|11|36.0|Non-synonymous|Alive
6541507|IGL01342|9|70102816|Disrupted splicing|||MGI:1924136|Fam81a|family with sequence similarity 81, member A [Source:MGI Symbol;Acc:MGI:1924136]|Heterozygous||G|A|78|35.0|Splice|Alive
6541508|IGL01342|3|55857077|Disrupted splicing|||MGI:1347075|Nbea|neurobeachin [Source:MGI Symbol;Acc:MGI:1347075]|Heterozygous|Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.|A|T|51|38.0|Splice|Alive
6541509|IGL01342|9|110517498|Disrupted splicing|||MGI:1098237|Kif9|kinesin family member 9 [Source:MGI Symbol;Acc:MGI:1098237]|Heterozygous||T|C|38|35.5|Splice|Alive
6541510|IGL01342|6|78467619|Disrupted splicing|||MGI:109406|Reg3g|regenerating islet-derived 3 gamma [Source:MGI Symbol;Acc:MGI:109406]|Heterozygous||T|C|36|36.5|Splice|Alive
6541511|IGL01342|12|84310968|Disrupted splicing|||MGI:1916372|Ptgr2|prostaglandin reductase 2 [Source:MGI Symbol;Acc:MGI:1916372]|Heterozygous||A|T|30|37.5|Splice|Alive
6541512|IGL01342|6|5185296|Disrupted splicing|||MGI:103295|Pon1|paraoxonase 1 [Source:MGI Symbol;Acc:MGI:103295]|Heterozygous|Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress.|A|T|27|39.0|Splice|Alive
6541513|IGL01342|4|138731627|Disrupted splicing|||MGI:106638|Pla2g2c|phospholipase A2, group IIC [Source:MGI Symbol;Acc:MGI:106638]|Heterozygous||A|T|22|33.5|Splice|Alive
6541514|IGL01342|8|80717653|Disrupted splicing|||MGI:1935129|Smarca5|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Source:MGI Symbol;Acc:MGI:1935129]|Heterozygous|Homozygous mutant mice die during early embryonic development.|A|T|17|37.0|Splice|Alive
6542130|IGL01343|18|82993096|T->A|0.95|Possibly damaging|MGI:2443957|Zfp516|zinc finger protein 516 [Source:MGI Symbol;Acc:MGI:2443957]|Heterozygous||A|G|162|35.0|Non-synonymous|Alive, Line Propagating
6542131|IGL01343|9|39737715|A->D|0.98|Probably damaging|MGI:2659178|Olfr150|olfactory receptor 150 [Source:MGI Symbol;Acc:MGI:2659178]|Heterozygous||C|A|145|35.0|Non-synonymous|Alive, Line Propagating
6542132|IGL01343|1|182317012|E->G|0.65|Possibly damaging|MGI:1261890|Fbxo28|F-box protein 28 [Source:MGI Symbol;Acc:MGI:1261890]|Heterozygous||T|C|144|35.0|Non-synonymous|Alive, Line Propagating
6542133|IGL01343|17|43313195|F->L|1.0|Probably damaging|MGI:1924846|Gpr110|G protein-coupled receptor 110 [Source:MGI Symbol;Acc:MGI:1924846]|Heterozygous||T|A|139|36.0|Non-synonymous|Alive, Line Propagating
6542134|IGL01343|2|53123545|V->D|||MGI:1918659|Fmnl2|formin-like 2 [Source:MGI Symbol;Acc:MGI:1918659]|Heterozygous||T|A|116|35.0|Non-synonymous|Alive, Line Propagating
6542135|IGL01343|9|31388954|L->I|0.08|Benign|MGI:2442410|Nfrkb|nuclear factor related to kappa B binding protein [Source:MGI Symbol;Acc:MGI:2442410]|Heterozygous||C|A|116|37.0|Non-synonymous|Alive, Line Propagating
6542136|IGL01343|4|113283626|V->A|0.22|Benign|MGI:3649262|Skint6|selection and upkeep of intraepithelial T cells 6 [Source:MGI Symbol;Acc:MGI:3649262]|Heterozygous||A|G|91|35.0|Non-synonymous|Alive, Line Propagating
6542137|IGL01343|10|24805922|Y->Stop||N/A|MGI:2143702|Enpp3|ectonucleotide pyrophosphatase/phosphodiesterase 3 [Source:MGI Symbol;Acc:MGI:2143702]|Heterozygous||A|T|75|37.0|Non-synonymous|Alive, Line Propagating
6542138|IGL01343|14|117186812|K->I|0.62|Possibly damaging|MGI:1346322|Gpc6|glypican 6 [Source:MGI Symbol;Acc:MGI:1346322]|Heterozygous||A|T|71|36.0|Non-synonymous|Alive, Line Propagating
6542139|IGL01343|X|68688295|D->G|1.0|Probably damaging|MGI:95564|Fmr1|fragile X mental retardation syndrome 1 [Source:MGI Symbol;Acc:MGI:95564]|Heterozygous|Homozygotes for a targeted null mutation exhibit macroorchidism associated with more rapid Sertoli cell proliferation, altered dendritic spines of visual cortex pyramidal cells, and subtle differences in a variety of behavioral tests.|A|G|70|39.0|Non-synonymous|Alive, Line Propagating
6542140|IGL01343|1|53826976|T->S|0.11|Benign|MGI:2685817|Hecw2|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:2685817]|Heterozygous||T|A|58|35.5|Non-synonymous|Alive, Line Propagating
6542141|IGL01343|2|86754499|K->Stop||N/A|MGI:3030924|Olfr1090|olfactory receptor 1090 [Source:MGI Symbol;Acc:MGI:3030924]|Heterozygous||T|A|58|39.0|Non-synonymous|Alive, Line Propagating
6542142|IGL01343|6|132755415|L->S|1.0|Probably damaging|MGI:2681267|Tas2r124|taste receptor, type 2, member 124 [Source:MGI Symbol;Acc:MGI:2681267]|Heterozygous||T|C|55|38.0|Non-synonymous|Alive, Line Propagating
6542143|IGL01343|16|49155677|D->E|0.31|Benign|MGI:3643515|Myh15|myosin, heavy chain 15 [Source:MGI Symbol;Acc:MGI:3643515]|Heterozygous||T|A|50|35.0|Non-synonymous|Alive, Line Propagating
6542144|IGL01343|2|80519842|S->T||Benign|MGI:1355333|Nckap1|NCK-associated protein 1 [Source:MGI Symbol;Acc:MGI:1355333]|Heterozygous|Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis.|A|T|50|39.0|Non-synonymous|Alive, Line Propagating
6542145|IGL01343|9|110086245|F->I|0.14|Benign|MGI:1920081|Dhx30|DEAH (Asp-Glu-Ala-His) box polypeptide 30 [Source:MGI Symbol;Acc:MGI:1920081]|Heterozygous||A|T|44|34.0|Non-synonymous|Alive, Line Propagating
6542146|IGL01343|2|118422089|V->I||Benign|MGI:1353427|Eif2ak4|eukaryotic translation initiation factor 2 alpha kinase 4 [Source:MGI Symbol;Acc:MGI:1353427]|Heterozygous|Mice homozygous for an ENU-induced allele exhibit increased susceptibility to macrophage infection with Ad5-F16-GFP and MCMV.|G|A|42|35.0|Non-synonymous|Alive, Line Propagating
6542147|IGL01343|5|73608463|N->K|0.91|Possibly damaging|MGI:2387634|Lrrc66|leucine rich repeat containing 66 [Source:MGI Symbol;Acc:MGI:2387634]|Heterozygous||A|T|42|35.0|Non-synonymous|Alive, Line Propagating
6542148|IGL01343|7|28150702|Q->R|0.03|Benign|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||A|G|41|35.0|Non-synonymous|Alive, Line Propagating
6542149|IGL01343|12|66723109|T->A|0.98|Probably damaging|MGI:2444706|Mdga2|MAM domain containing glycosylphosphatidylinositol anchor 2 [Source:MGI Symbol;Acc:MGI:2444706]|Heterozygous||T|C|40|36.5|Non-synonymous|Alive, Line Propagating
6542150|IGL01343|9|21510073|T->K|1.0|Probably damaging|MGI:106201|Tmed1|transmembrane emp24 domain containing 1 [Source:MGI Symbol;Acc:MGI:106201]|Heterozygous||G|T|40|34.0|Non-synonymous|Alive, Line Propagating
6542151|IGL01343|9|65589562|M->K|1.0|Probably damaging|MGI:2143057|Pif1|PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2143057]|Heterozygous|Mice homozygous for a knock-out allele are viable and overtly normal and show no evidence of increased sensitivity to DNA damage, genetic instability, reproducible telomere length alteration or other cellular abnormalities.|T|A|40|37.0|Non-synonymous|Alive, Line Propagating
6542152|IGL01343|1|128589555|Y->C|1.0|Probably damaging|MGI:109563|Cxcr4|chemokine (C-X-C motif) receptor 4 [Source:MGI Symbol;Acc:MGI:109563]|Heterozygous|Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development.|T|C|39|36.0|Non-synonymous|Alive, Line Propagating
6542153|IGL01343|1|169984581|T->A||Benign|MGI:1345277|Ddr2|discoidin domain receptor family, member 2 [Source:MGI Symbol;Acc:MGI:1345277]|Heterozygous|Homozygotes for a targeted null mutation exhibit dwarfism, shortening of the long bones with reduced chondrocyte proliferation, and generally reduced cell proliferation.|T|C|39|35.0|Non-synonymous|Alive, Line Propagating
6542154|IGL01343|5|33843578|D->E|0.98|Probably damaging|MGI:1276574|Whsc1|Wolf-Hirschhorn syndrome candidate 1 (human) [Source:MGI Symbol;Acc:MGI:1276574]|Heterozygous|Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.|C|A|36|38.0|Non-synonymous|Alive, Line Propagating
6542155|IGL01343|11|77129930|G->D|1.0|Probably damaging|MGI:2442440|Efcab5|EF-hand calcium binding domain 5 [Source:MGI Symbol;Acc:MGI:2442440]|Heterozygous||C|T|35|35.0|Non-synonymous|Alive, Line Propagating
6542156|IGL01343|8|36103046|R->H|0.94|Possibly damaging|MGI:1196223|D8ertd82e|DNA segment, Chr 8, ERATO Doi 82, expressed [Source:MGI Symbol;Acc:MGI:1196223]|Heterozygous||G|A|35|37.0|Non-synonymous|Alive, Line Propagating
6542157|IGL01343|17|12425629|W->R|1.0|Probably damaging|MGI:1333817|Slc22a3|solute carrier family 22 (organic cation transporter), member 3 [Source:MGI Symbol;Acc:MGI:1333817]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|T|34|36.0|Non-synonymous|Alive, Line Propagating
6542158|IGL01343|2|167037363|I->V|0.12|Benign|MGI:2138982|Znfx1|zinc finger, NFX1-type containing 1 [Source:MGI Symbol;Acc:MGI:2138982]|Heterozygous||T|C|34|35.5|Non-synonymous|Alive, Line Propagating
6542159|IGL01343|10|107638839|T->I|0.99|Probably damaging|MGI:1096349|Ptprq|protein tyrosine phosphatase, receptor type, Q [Source:MGI Symbol;Acc:MGI:1096349]|Heterozygous|Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.|G|A|32|37.5|Non-synonymous|Alive, Line Propagating
6542160|IGL01343|14|20713341|W->C|1.0|Probably damaging|MGI:1919156|2310021p13rik|RIKEN cDNA 2310021P13 gene [Source:MGI Symbol;Acc:MGI:1919156]|Heterozygous||G|T|32|38.0|Non-synonymous|Alive, Line Propagating
6542161|IGL01343|16|23224287|S->Y||Unknown|MGI:3702726|Bc106179|cDNA sequence BC106179 [Source:MGI Symbol;Acc:MGI:3702726]|Heterozygous||G|T|32|35.0|Non-synonymous|Alive, Line Propagating
6542162|IGL01343|2|82999819|T->A||Unknown|MGI:2664111|Fsip2|fibrous sheath-interacting protein 2 [Source:MGI Symbol;Acc:MGI:2664111]|Heterozygous||A|G|32|37.0|Non-synonymous|Alive, Line Propagating
6542163|IGL01343|8|63927315|Q->Stop||N/A|MGI:3644562|Gm4975|predicted gene 4975 [Source:MGI Symbol;Acc:MGI:3644562]|Heterozygous||G|A|31|37.0|Non-synonymous|Alive, Line Propagating
6542164|IGL01343|11|70220514|I->T|0.99|Probably damaging|MGI:1916559|Slc16a13|solute carrier family 16 (monocarboxylic acid transporters), member 13 [Source:MGI Symbol;Acc:MGI:1916559]|Heterozygous||A|G|30|35.0|Non-synonymous|Alive, Line Propagating
6542165|IGL01343|7|99232568|A->S|0.05|Benign|MGI:2663253|Mogat2|monoacylglycerol O-acyltransferase 2 [Source:MGI Symbol;Acc:MGI:2663253]|Heterozygous|Mice homozygous for a null allele exhibit resistance to diet induced obesity, hyperinsulinemia, hyperlipidemia, and steatosis with decreased lipid absorption and increased oxygen consumption when fed a high fat diet.|C|A|29|35.0|Non-synonymous|Alive, Line Propagating
6542166|IGL01343|2|112660054|Y->H|1.0|Probably damaging|MGI:99684|Ryr3|ryanodine receptor 3 [Source:MGI Symbol;Acc:MGI:99684]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task.|A|G|28|36.5|Non-synonymous|Alive, Line Propagating
6542167|IGL01343|15|65889591|T->A|0.01|Benign|MGI:1313269|Oc90|otoconin 90 [Source:MGI Symbol;Acc:MGI:1313269]|Heterozygous|Mice homozygous for a null allele exhibit reduced, enlarged, and loose otoliths, and thin cupula, saccule, utricle and tectorial membranes.|T|C|26|36.0|Non-synonymous|Alive, Line Propagating
6542169|IGL01343|9|116074112|Stop->W||N/A|MGI:1920998|Gadl1|glutamate decarboxylase-like 1 [Source:MGI Symbol;Acc:MGI:1920998]|Heterozygous||A|G|22|35.5|Non-synonymous|Alive, Line Propagating
6542170|IGL01343|17|47601889|M->I|0.24|Benign|MGI:1858419|Bysl|bystin-like [Source:MGI Symbol;Acc:MGI:1858419]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality shortly after implantation.|C|A|21|35.0|Non-synonymous|Alive, Line Propagating
6542171|IGL01343|10|78847597|V->E|0.83|Possibly damaging|MGI:3031190|Olfr1356|olfactory receptor 1356 [Source:MGI Symbol;Acc:MGI:3031190]|Heterozygous||A|T|19|35.0|Non-synonymous|Alive, Line Propagating
6542172|IGL01343|17|56615586|L->P|0.76|Possibly damaging|MGI:1921392|Lonp1|lon peptidase 1, mitochondrial [Source:MGI Symbol;Acc:MGI:1921392]|Heterozygous||A|G|18|34.0|Non-synonymous|Alive, Line Propagating
6542173|IGL01343|15|83386686|H->R|0.7|Possibly damaging|MGI:1345153|Pacsin2|protein kinase C and casein kinase substrate in neurons 2 [Source:MGI Symbol;Acc:MGI:1345153]|Heterozygous||T|C|16|37.0|Non-synonymous|Alive, Line Propagating
6542174|IGL01343|2|26472905|A->S|0.38|Benign|MGI:97363|Notch1|notch 1 [Source:MGI Symbol;Acc:MGI:97363]|Heterozygous||C|A|15|39.0|Non-synonymous|Alive, Line Propagating
6542175|IGL01343|3|93148326|R->G|0.62|Possibly damaging|MGI:2685861|Crnn|cornulin [Source:MGI Symbol;Acc:MGI:2685861]|Heterozygous||A|G|15|36.0|Non-synonymous|Alive, Line Propagating
6542176|IGL01343|5|86904388|S->P|0.13|Benign|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||A|G|15|40.0|Non-synonymous|Alive, Line Propagating
6542177|IGL01343|17|32143436|E->G|0.22|Benign|MGI:99460|Notch3|notch 3 [Source:MGI Symbol;Acc:MGI:99460]|Heterozygous|Homozygous null mice are viable, fertile, and show no overt phenotype. Adult homozygous null mice for one allele display a small thymus and reduced thymocyte numbers.|T|C|12|35.5|Non-synonymous|Alive, Line Propagating
6542178|IGL01343|1|120494740|Disrupted splicing|||MGI:1309998|Marco|macrophage receptor with collagenous structure [Source:MGI Symbol;Acc:MGI:1309998]|Heterozygous|Mice homozygous for a null allele show altered spleen marginal zone architecture and impaired IgM responses to a pneumococcal polysaccharide vaccine. Mice homozygous for another null allele show increased susceptibility to bacterial pneumonia and enhanced inflammatory responses to inhaled particles.|C|T|63|35.0|Splice|Alive, Line Propagating
6542179|IGL01343|13|61249196|Disrupted splicing|||MGI:1860275|Cts8|cathepsin 8 [Source:MGI Symbol;Acc:MGI:1860275]|Heterozygous||T|C|62|37.0|Splice|Alive, Line Propagating
6542180|IGL01343|11|62325486|Disrupted splicing|||MGI:1349717|Ncor1|nuclear receptor co-repressor 1 [Source:MGI Symbol;Acc:MGI:1349717]|Heterozygous|Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities.|C|T|55|37.0|Splice|Alive, Line Propagating
6542181|IGL01343|1|58492855|Disrupted splicing|||MGI:1328306|Orc2|origin recognition complex, subunit 2 [Source:MGI Symbol;Acc:MGI:1328306]|Heterozygous||A|T|51|36.0|Splice|Alive, Line Propagating
6542182|IGL01343|15|91149213|Disrupted splicing|||MGI:1349467|Abcd2|ATP-binding cassette, sub-family D (ALD), member 2 [Source:MGI Symbol;Acc:MGI:1349467]|Heterozygous|Mice homozygous for a disruption in this gene exhibit a late-onset cerebellar and sensory ataxia, loss of Purkinje cells, dorsal root ganglia cell degeneration, axonal degeneration in the spinal cord, and an accumulation of very long chain fatty acids.|A|T|39|39.0|Splice|Alive, Line Propagating
6542183|IGL01343|4|66833887|Disrupted splicing|||MGI:96824|Tlr4|toll-like receptor 4 [Source:MGI Symbol;Acc:MGI:96824]|Heterozygous|Homozygotes for spontaneous or targeted mutations are hyporesponsive to bacterial lipopolysaccharide and more susceptible to infection by gram negative bacteria.|T|C|39|37.0|Splice|Alive, Line Propagating
6542184|IGL01343|1|87127136|Disrupted splicing|||MGI:87984|Akp3|alkaline phosphatase 3, intestine, not Mn requiring [Source:MGI Symbol;Acc:MGI:87984]|Heterozygous|Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain.|G|T|32|36.0|Splice|Alive, Line Propagating
6542185|IGL01343|7|55796031|Disrupted splicing|||MGI:2178836|Tubgcp5|tubulin, gamma complex associated protein 5 [Source:MGI Symbol;Acc:MGI:2178836]|Heterozygous||C|A|28|38.5|Splice|Alive, Line Propagating
6542790|IGL01344|7|18560417|D->G|1.0|Probably damaging|MGI:1891359|Psg27|pregnancy-specific glycoprotein 27 [Source:MGI Symbol;Acc:MGI:1891359]|Heterozygous||T|C|192|37.0|Non-synonymous|Alive, Line Propagating
6542791|IGL01344|13|73792737|I->N|0.89|Possibly damaging|MGI:1342283|Slc12a7|solute carrier family 12, member 7 [Source:MGI Symbol;Acc:MGI:1342283]|Heterozygous|Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis.|T|A|145|37.0|Non-synonymous|Alive, Line Propagating
6542792|IGL01344|9|63142278|S->R|0.04|Benign|MGI:2443473|Skor1|SKI family transcriptional corepressor 1 [Source:MGI Symbol;Acc:MGI:2443473]|Heterozygous||A|T|115|34.0|Non-synonymous|Alive, Line Propagating
6542793|IGL01344|3|102520312|T->A||Benign|MGI:97321|Ngf|nerve growth factor [Source:MGI Symbol;Acc:MGI:97321]|Heterozygous|Homozygous null mutants exhibit elevated pain threshold, loss of neurons in both sensory and sympathetic ganglia, but diminished apoptosis in the retina and spinal cord. Heterozygotes exhibit a substantially reduced number of sympathetic neurons.|A|G|84|35.0|Non-synonymous|Alive, Line Propagating
6542794|IGL01344|13|100078080|D->G|0.87|Possibly damaging|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||T|C|82|39.0|Non-synonymous|Alive, Line Propagating
6542795|IGL01344|1|43983262|T->I|0.38|Benign|MGI:102724|Tpp2|tripeptidyl peptidase II [Source:MGI Symbol;Acc:MGI:102724]|Heterozygous|Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence.|C|T|81|39.0|Non-synonymous|Alive, Line Propagating
6542796|IGL01344|5|16370631|I->K|0.02|Benign|MGI:88295|Cacna2d1|calcium channel, voltage-dependent, alpha2/delta subunit 1 [Source:MGI Symbol;Acc:MGI:88295]|Heterozygous|Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.|T|A|63|37.0|Non-synonymous|Alive, Line Propagating
6542797|IGL01344|6|86946157|K->R||Unknown|MGI:1098687|Aak1|AP2 associated kinase 1 [Source:MGI Symbol;Acc:MGI:1098687]|Heterozygous||A|G|63|38.0|Non-synonymous|Alive, Line Propagating
6542798|IGL01344|17|30996264|V->I|0.74|Possibly damaging|MGI:1929785|Umodl1|uromodulin-like 1 [Source:MGI Symbol;Acc:MGI:1929785]|Heterozygous||G|A|61|35.0|Non-synonymous|Alive, Line Propagating
6542799|IGL01344|1|134151314|F->S|1.0|Probably damaging|MGI:1919134|Chit1|chitinase 1 (chitotriosidase) [Source:MGI Symbol;Acc:MGI:1919134]|Heterozygous||T|C|58|35.0|Non-synonymous|Alive, Line Propagating
6542800|IGL01344|13|12478490|D->G|1.0|Probably damaging|MGI:1931001|Edaradd|EDAR (ectodysplasin-A receptor)-associated death domain [Source:MGI Symbol;Acc:MGI:1931001]|Heterozygous||T|C|58|35.0|Non-synonymous|Alive, Line Propagating
6542801|IGL01344|14|34075597|M->L||Unknown|MGI:1925726|Antxrl|anthrax toxin receptor-like [Source:MGI Symbol;Acc:MGI:1925726]|Heterozygous||A|C|58|35.0|Non-synonymous|Alive, Line Propagating
6542802|IGL01344|14|56083945|I->F|1.0|Probably damaging|MGI:1261780|Mcpt8|mast cell protease 8 [Source:MGI Symbol;Acc:MGI:1261780]|Heterozygous||T|A|57|36.0|Non-synonymous|Alive, Line Propagating
6542803|IGL01344|2|25220333|I->F||Benign|MGI:3605773|Fam166a|family with sequence similarity 166, member A [Source:MGI Symbol;Acc:MGI:3605773]|Heterozygous||A|T|51|35.0|Non-synonymous|Alive, Line Propagating
6542804|IGL01344|4|112290322|M->K|0.6|Possibly damaging|MGI:3045331|Skint3|selection and upkeep of intraepithelial T cells 3 [Source:MGI Symbol;Acc:MGI:3045331]|Heterozygous||T|A|50|40.0|Non-synonymous|Alive, Line Propagating
6542805|IGL01344|11|115851193|D->G|||MGI:1918843|Llgl2|lethal giant larvae homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1918843]|Heterozygous||A|G|49|36.0|Non-synonymous|Alive, Line Propagating
6542806|IGL01344|4|106379385|S->P||Benign|MGI:1919936|Usp24|ubiquitin specific peptidase 24 [Source:MGI Symbol;Acc:MGI:1919936]|Heterozygous||T|C|49|37.0|Non-synonymous|Alive, Line Propagating
6542807|IGL01344|4|40208883|T->I|0.99|Probably damaging|MGI:2442858|Ddx58|DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 [Source:MGI Symbol;Acc:MGI:2442858]|Heterozygous||G|A|47|37.0|Non-synonymous|Alive, Line Propagating
6542808|IGL01344|2|127442067|K->E|0.07|Benign|MGI:1915376|Fahd2a|fumarylacetoacetate hydrolase domain containing 2A [Source:MGI Symbol;Acc:MGI:1915376]|Heterozygous||T|C|46|36.0|Non-synonymous|Alive, Line Propagating
6542809|IGL01344|11|98100100|C->Stop||N/A|MGI:1919444|Fbxl20|F-box and leucine-rich repeat protein 20 [Source:MGI Symbol;Acc:MGI:1919444]|Heterozygous|Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission.|A|T|45|38.0|Non-synonymous|Alive, Line Propagating
6542810|IGL01344|17|57224880|N->T||Benign|MGI:88227|C3|complement component 3 [Source:MGI Symbol;Acc:MGI:88227]|Heterozygous|Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response.|T|G|41|37.0|Non-synonymous|Alive, Line Propagating
6542811|IGL01344|2|161551817|D->V|1.0|Probably damaging|MGI:1321152|Ptprt|protein tyrosine phosphatase, receptor type, T [Source:MGI Symbol;Acc:MGI:1321152]|Heterozygous|Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors.|T|A|39|35.0|Non-synonymous|Alive, Line Propagating
6542812|IGL01344|4|43984069|N->Y|0.98|Probably damaging|MGI:3045316|Ccin|calicin [Source:MGI Symbol;Acc:MGI:3045316]|Heterozygous||A|T|39|35.0|Non-synonymous|Alive, Line Propagating
6542813|IGL01344|5|30956044|V->M|0.73|Possibly damaging|MGI:1355326|Preb|prolactin regulatory element binding [Source:MGI Symbol;Acc:MGI:1355326]|Heterozygous||C|T|38|37.5|Non-synonymous|Alive, Line Propagating
6542814|IGL01344|7|118190836|F->S|0.66|Possibly damaging|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||A|G|36|37.0|Non-synonymous|Alive, Line Propagating
6542815|IGL01344|17|56064104|V->E|1.0|Probably damaging|MGI:1351331|Chaf1a|chromatin assembly factor 1, subunit A (p150) [Source:MGI Symbol;Acc:MGI:1351331]|Heterozygous|Mice homozygous for a null mutation in this gene display lethality before implantation, embryonic growth arrest, and abnormal heterochromatin morphology.|T|A|34|36.5|Non-synonymous|Alive, Line Propagating
6542816|IGL01344|15|81016302|T->A|1.0|Probably damaging|MGI:2384495|Mkl1|MKL (megakaryoblastic leukemia)/myocardin-like 1 [Source:MGI Symbol;Acc:MGI:2384495]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal mammary gland morphology and physiology. Mice homozygous for another knock-out allele exhibit abnormal cardiovascular morphology and abnormal mammary gland morphology and physiology.|T|C|30|36.0|Non-synonymous|Alive, Line Propagating
6542817|IGL01344|6|17547032|S->Y|||MGI:96969|Met|met proto-oncogene [Source:MGI Symbol;Acc:MGI:96969]|Heterozygous|Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental and liver defects.|C|A|29|37.0|Non-synonymous|Alive, Line Propagating
6542819|IGL01344|8|47519704|I->N|1.0|Probably damaging|MGI:2444585|Trappc11|trafficking protein particle complex 11 [Source:MGI Symbol;Acc:MGI:2444585]|Heterozygous||A|T|24|39.0|Non-synonymous|Alive, Line Propagating
6542820|IGL01344|1|89153236|N->S||Benign|MGI:2138297|Sh3bp4|SH3-domain binding protein 4 [Source:MGI Symbol;Acc:MGI:2138297]|Heterozygous||A|G|20|38.0|Non-synonymous|Alive, Line Propagating
6542821|IGL01344|2|173094734|A->E|0.81|Possibly damaging|MGI:3652571|Ctcfl|CCCTC-binding factor (zinc finger protein)-like [Source:MGI Symbol;Acc:MGI:3652571]|Heterozygous||G|T|19|35.0|Non-synonymous|Alive, Line Propagating
6542822|IGL01344|18|67623397|T->A|0.95|Probably damaging|MGI:1923401|Cep76|centrosomal protein 76 [Source:MGI Symbol;Acc:MGI:1923401]|Heterozygous||T|C|12|36.5|Non-synonymous|Alive, Line Propagating
6542823|IGL01344|15|85862066|Disrupted splicing|||MGI:1352755|Gtse1|G two S phase expressed protein 1 [Source:MGI Symbol;Acc:MGI:1352755]|Heterozygous||A|T|87|37.0|Splice|Alive, Line Propagating
6542824|IGL01344|8|72382325|Disrupted splicing|||MGI:104582|Eps15l1|epidermal growth factor receptor pathway substrate 15-like 1 [Source:MGI Symbol;Acc:MGI:104582]|Heterozygous||A|G|85|35.0|Splice|Alive, Line Propagating
6542825|IGL01344|6|29498951|Disrupted splicing|||MGI:2141640|Kcp|kielin/chordin-like protein [Source:MGI Symbol;Acc:MGI:2141640]|Heterozygous|Homozygous null mice display increased sensitivity to renal injury.|A|T|76|35.0|Splice|Alive, Line Propagating
6542826|IGL01344|5|21242883|Disrupted splicing|||MGI:2442259|Pion|pigeon homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2442259]|Heterozygous||G|T|53|39.0|Splice|Alive, Line Propagating
6542827|IGL01344|3|96150980|Disrupted splicing|||MGI:2654703|Otud7b|OTU domain containing 7B [Source:MGI Symbol;Acc:MGI:2654703]|Heterozygous||T|A|40|37.0|Splice|Alive, Line Propagating
6542828|IGL01344|7|44977635|Disrupted splicing|||MGI:107846|Prmt1|protein arginine N-methyltransferase 1 [Source:MGI Symbol;Acc:MGI:107846]|Heterozygous|Embryos homozygous for a null mutation die before E6.5 and exhibit abnormal embryonic tissue morphology.|G|T|28|35.0|Splice|Alive, Line Propagating
6542829|IGL01344|7|82681480|Disrupted splicing|||MGI:2141969|Eftud1|elongation factor Tu GTP binding domain containing 1 [Source:MGI Symbol;Acc:MGI:2141969]|Heterozygous||T|C|24|37.5|Splice|Alive, Line Propagating
6542830|IGL01344|9|113813292|Disrupted splicing|||MGI:1923749|Clasp2|CLIP associating protein 2 [Source:MGI Symbol;Acc:MGI:1923749]|Heterozygous|Targeted deletion of this gene leads to impaired formation of stable microtubules in a wound healing assay, and results in a 2-fold reduction of directionally persistent migration in mutant embryonic fibroblasts.|A|G|12|37.5|Splice|Alive, Line Propagating
6543458|IGL01345|14|44724955|S->P|0.98|Probably damaging|MGI:3648993|Gm8267|predicted gene 8267 [Source:MGI Symbol;Acc:MGI:3648993]|Heterozygous||A|G|179|38.0|Non-synonymous|Alive
6543459|IGL01345|2|164820137|L->H|1.0|Probably damaging|MGI:1914788|Zswim3|zinc finger, SWIM domain containing 3 [Source:MGI Symbol;Acc:MGI:1914788]|Heterozygous||T|A|124|37.0|Non-synonymous|Alive
6543460|IGL01345|7|5317492|E->G|0.39|Benign|MGI:3041206|Nlrp2|NLR family, pyrin domain containing 2 [Source:MGI Symbol;Acc:MGI:3041206]|Heterozygous||T|C|114|36.0|Non-synonymous|Alive
6543461|IGL01345|8|126025407|C->S|0.7|Possibly damaging|MGI:109322|Kcnk1|potassium channel, subfamily K, member 1 [Source:MGI Symbol;Acc:MGI:109322]|Heterozygous||T|A|101|35.0|Non-synonymous|Alive
6543462|IGL01345|7|127300956|F->I|0.26|Benign|MGI:96606|Itgal|integrin alpha L [Source:MGI Symbol;Acc:MGI:96606]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased leukocyte cell number, decreased T cell proliferation, abnormal leukocyte tethering and adhesion, and abnormal cytokine levels.|T|A|92|34.0|Non-synonymous|Alive
6543463|IGL01345|4|117273270|R->Stop||N/A|MGI:1913993|Rnf220|ring finger protein 220 [Source:MGI Symbol;Acc:MGI:1913993]|Heterozygous||G|A|91|35.0|Non-synonymous|Alive
6543464|IGL01345|18|7266947|K->E||Benign|MGI:1922184|Armc4|armadillo repeat containing 4 [Source:MGI Symbol;Acc:MGI:1922184]|Heterozygous||T|C|80|39.0|Non-synonymous|Alive
6543465|IGL01345|3|101880176|S->R|||MGI:3607704|Slc22a15|solute carrier family 22 (organic anion/cation transporter), member 15 [Source:MGI Symbol;Acc:MGI:3607704]|Heterozygous||A|C|69|35.0|Non-synonymous|Alive
6543466|IGL01345|16|4648368|I->V||Benign|MGI:1926135, MGI:2177651|Coro7,vasn|coronin 7 [Source:MGI Symbol;Acc:MGI:1926135],vasorin [Source:MGI Symbol;Acc:MGI:2177651]|Heterozygous|Mice homozygous for a targeted allele exhibit increased sensitivity to TNFalpha-induced lethality, TNFalpha-, cycloheximide-, or CoCl2-induced cell death, and reduced male fertility.,NO_PHENOTYPE|A|G|67|37.0|Non-synonymous|Alive
6543467|IGL01345|4|43536281|L->F|1.0|Probably damaging|MGI:1099832|Tln1|talin 1 [Source:MGI Symbol;Acc:MGI:1099832]|Heterozygous|Mice homozygous for either one of two knock-out alleles display early developmental anomalies, reduced embryo size, and embryonic lethality due to impaired cell migration at the gastrulation stage.|G|A|67|37.0|Non-synonymous|Alive
6543468|IGL01345|11|6405015|D->G|0.55|Possibly damaging|MGI:106374|Zmiz2|zinc finger, MIZ-type containing 2 [Source:MGI Symbol;Acc:MGI:106374]|Heterozygous||A|G|64|36.0|Non-synonymous|Alive
6543469|IGL01345|5|123572943|N->K|0.01|Benign|MGI:1924823|Vps33a|vacuolar protein sorting 33A (yeast) [Source:MGI Symbol;Acc:MGI:1924823]|Heterozygous|Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function.|G|T|62|35.0|Non-synonymous|Alive
6543470|IGL01345|1|166634972|D->E|||MGI:3643320|Gm4847|predicted gene 4847 [Source:MGI Symbol;Acc:MGI:3643320]|Heterozygous||A|T|56|38.5|Non-synonymous|Alive
6543471|IGL01345|3|135594981|D->G|1.0|Probably damaging|MGI:97312|Nfkb1|nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 [Source:MGI Symbol;Acc:MGI:97312]|Heterozygous|Homozygous null mice have a decreased survivor rate, abnormal T cell development and decreased number of peripheral T cells, abnormal humoral responses with decreased immunoglobulin class switching, exhibit mild organ inflammation, and are susceptible to both bacterial infections and hearing loss.|T|C|55|35.0|Non-synonymous|Alive
6543472|IGL01345|7|131967432|F->L|0.34|Benign|MGI:2441758|Gpr26|G protein-coupled receptor 26 [Source:MGI Symbol;Acc:MGI:2441758]|Heterozygous||T|C|54|35.0|Non-synonymous|Alive
6543473|IGL01345|9|121208162|T->A|0.32|Benign|MGI:1921622|Ulk4|unc-51-like kinase 4 [Source:MGI Symbol;Acc:MGI:1921622]|Heterozygous||T|C|54|36.5|Non-synonymous|Alive
6543474|IGL01345|7|83882846|S->P|1.0|Probably damaging|MGI:1891420|Mesdc1|mesoderm development candidate 1 [Source:MGI Symbol;Acc:MGI:1891420]|Heterozygous||A|G|41|37.0|Non-synonymous|Alive
6543475|IGL01345|6|119761263|K->Stop||N/A|MGI:2151013|Erc1|ELKS/RAB6-interacting/CAST family member 1 [Source:MGI Symbol;Acc:MGI:2151013]|Heterozygous|Mice homozygous for null mutations in this gene display embryonic lethality. Mice heterozygous for a gene trap null allele exhibit increased sensitivity to ionizing radiation-induced lethality, with males being more affected than females.|T|A|36|39.0|Non-synonymous|Alive
6543477|IGL01345|4|43493453|L->Stop||N/A|MGI:1913423|Ccdc107|coiled-coil domain containing 107 [Source:MGI Symbol;Acc:MGI:1913423]|Heterozygous||T|A|30|35.0|Non-synonymous|Alive
6543478|IGL01345|11|68496194|D->N|0.85|Possibly damaging|MGI:2443588|Pik3r5|phosphoinositide-3-kinase, regulatory subunit 5, p101 [Source:MGI Symbol;Acc:MGI:2443588]|Heterozygous|Mice homozygous for a knock-out allele exhibit significantly reduced neutrophil chemotaxis and chemokinesis in vitro and impaired neutrophil recruitment into the peritoneum in a model of thioglycollate-induced aseptic peritonitis.|G|A|28|35.0|Non-synonymous|Alive
6543479|IGL01345|9|95940949|C->Y|0.87|Possibly damaging|MGI:108028|Atr|ataxia telangiectasia and Rad3 related [Source:MGI Symbol;Acc:MGI:108028]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence.|G|A|18|39.0|Non-synonymous|Alive
6543480|IGL01345|15|79034065|Disrupted splicing|||MGI:1349389|Gcat|glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase) [Source:MGI Symbol;Acc:MGI:1349389]|Heterozygous||T|C|51|37.0|Splice|Alive
6544081|IGL01346|7|9206681|V->L|||MGI:1316711|Vmn2r37|vomeronasal 2, receptor 37 [Source:MGI Symbol;Acc:MGI:1316711]|Heterozygous||C|A|382|37.0|Non-synonymous|Alive, Line Propagating
6544082|IGL01346|11|49444768|R->G|||MGI:3031222|Olfr1388|olfactory receptor 1388 [Source:MGI Symbol;Acc:MGI:3031222]|Heterozygous||A|G|173|36.0|Non-synonymous|Alive, Line Propagating
6544083|IGL01346|13|116895064|C->S|||MGI:1098713|Parp8|poly (ADP-ribose) polymerase family, member 8 [Source:MGI Symbol;Acc:MGI:1098713]|Heterozygous||A|T|119|35.0|Non-synonymous|Alive, Line Propagating
6544084|IGL01346|1|59125560|S->P|1.0|Probably damaging|MGI:2386681|Mpp4|membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) [Source:MGI Symbol;Acc:MGI:2386681]|Heterozygous|Homozygotes for mutations display sporadic photorecptor displacement. Correct protein localization at the presynaptic photoreceptor membrane.|A|G|118|37.0|Non-synonymous|Alive, Line Propagating
6544085|IGL01346|7|85136919|L->P|||MGI:3643129|Vmn2r67|vomeronasal 2, receptor 67 [Source:MGI Symbol;Acc:MGI:3643129]|Heterozygous||A|G|114|37.0|Non-synonymous|Alive, Line Propagating
6544086|IGL01346|19|5497736|L->P|0.01|Benign|MGI:2444704|Snx32|sorting nexin 32 [Source:MGI Symbol;Acc:MGI:2444704]|Heterozygous||A|G|108|35.0|Non-synonymous|Alive, Line Propagating
6544087|IGL01346|17|57545232|G->V|0.01|Benign|MGI:3644483|Vmn2r120|vomeronasal 2, receptor 120 [Source:MGI Symbol;Acc:MGI:3644483]|Heterozygous||C|A|104|37.0|Non-synonymous|Alive, Line Propagating
6544088|IGL01346|10|88436179|V->I|0.18|Benign|MGI:3643902|Gnptab|N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [Source:MGI Symbol;Acc:MGI:3643902]|Heterozygous||G|A|101|38.0|Non-synonymous|Alive, Line Propagating
6544089|IGL01346|5|96086246|M->K|0.99|Probably damaging|MGI:2443154|Cnot6l|CCR4-NOT transcription complex, subunit 6-like [Source:MGI Symbol;Acc:MGI:2443154]|Heterozygous||A|T|96|38.5|Non-synonymous|Alive, Line Propagating
6544090|IGL01346|1|75217277|C->F|0.02|Benign|MGI:1095410|Tuba4a|tubulin, alpha 4A [Source:MGI Symbol;Acc:MGI:1095410]|Heterozygous||C|A|86|35.0|Non-synonymous|Alive, Line Propagating
6544091|IGL01346|1|157161216|N->S||Benign|MGI:2443881|Rasal2|RAS protein activator like 2 [Source:MGI Symbol;Acc:MGI:2443881]|Heterozygous||T|C|79|36.0|Non-synonymous|Alive, Line Propagating
6544092|IGL01346|7|30549646|N->S|0.35|Benign|MGI:2681861|Bc053749|cDNA sequence BC053749 [Source:MGI Symbol;Acc:MGI:2681861]|Heterozygous||T|C|75|34.0|Non-synonymous|Alive, Line Propagating
6544093|IGL01346|2|89144231|F->S|0.06|Benign|MGI:3031057|Olfr1223|olfactory receptor 1223 [Source:MGI Symbol;Acc:MGI:3031057]|Heterozygous||A|G|72|37.0|Non-synonymous|Alive, Line Propagating
6544094|IGL01346|9|13829750|C->R|1.0|Probably damaging|MGI:1920076|Fam76b|family with sequence similarity 76, member B [Source:MGI Symbol;Acc:MGI:1920076]|Heterozygous||T|C|69|38.0|Non-synonymous|Alive, Line Propagating
6544095|IGL01346|11|75672250|V->E|1.0|Probably damaging|MGI:106612|Myo1c|myosin IC [Source:MGI Symbol;Acc:MGI:106612]|Heterozygous|Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells.|T|A|65|35.0|Non-synonymous|Alive, Line Propagating
6544096|IGL01346|2|29144809|H->Q|1.0|Probably damaging|MGI:2443480|Setx|senataxin [Source:MGI Symbol;Acc:MGI:2443480]|Heterozygous||T|A|64|36.0|Non-synonymous|Alive, Line Propagating
6544097|IGL01346|10|23941099|Y->C|1.0|Probably damaging|MGI:2685071|Taar2|trace amine-associated receptor 2 [Source:MGI Symbol;Acc:MGI:2685071]|Heterozygous||A|G|63|37.0|Non-synonymous|Alive, Line Propagating
6544098|IGL01346|19|47109614|V->I||Benign|MGI:1341788|Pdcd11|programmed cell death 11 [Source:MGI Symbol;Acc:MGI:1341788]|Heterozygous||G|A|59|36.0|Non-synonymous|Alive, Line Propagating
6544099|IGL01346|7|105713909|S->P|||MGI:1924755|Dnhd1|dynein heavy chain domain 1 [Source:MGI Symbol;Acc:MGI:1924755]|Heterozygous||T|C|57|35.0|Non-synonymous|Alive, Line Propagating
6544100|IGL01346|14|57444405|E->D|||MGI:98715|Ift88|intraflagellar transport 88 [Source:MGI Symbol;Acc:MGI:98715]|Heterozygous|Mice homozygous for a null allele display early to mid-gestation lethality, random patterning of the left-right body axis, neural tube defects, pericardial sac expansion, enlarged limb buds, polydactyly, and absent embryonic node cilia.|A|T|54|38.0|Non-synonymous|Alive, Line Propagating
6544101|IGL01346|14|66177118|L->P||Benign|MGI:104908|Ptk2b|PTK2 protein tyrosine kinase 2 beta [Source:MGI Symbol;Acc:MGI:104908]|Heterozygous|Mice homozygous for a knock-out allele show alterations in endothelial nitric oxide synthase-mediated vascular function and angiogenic responses. Mice homozygous for a second knock-out allele exhibit multiple defects in macrophage migration and function.|A|G|53|35.0|Non-synonymous|Alive, Line Propagating
6544102|IGL01346|4|122844055|I->K|0.23|Benign|MGI:1298204|Ppt1|palmitoyl-protein thioesterase 1 [Source:MGI Symbol;Acc:MGI:1298204]|Heterozygous|Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.|T|A|52|34.5|Non-synonymous|Alive, Line Propagating
6544103|IGL01346|9|54415475|T->A|1.0|Probably damaging|MGI:2444630|Dmxl2|Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630]|Heterozygous||T|C|37|36.0|Non-synonymous|Alive, Line Propagating
6544104|IGL01346|19|27239681|I->L||Benign|MGI:98935|Vldlr|very low density lipoprotein receptor [Source:MGI Symbol;Acc:MGI:98935]|Heterozygous|Homozygous null mutants exhibit modest reductions in body weight and adiposity. In behavioral tests, mutants display deficits in contextual fear conditioning and long term potentiation.|A|T|36|37.0|Non-synonymous|Alive, Line Propagating
6544105|IGL01346|7|45442537|Y->C|1.0|Probably damaging|MGI:101805|Gys1|glycogen synthase 1, muscle [Source:MGI Symbol;Acc:MGI:101805]|Heterozygous|Homozygous null mice display neonatal lethality with reduced heart ventricles, dilated atria, vascular congestion, and liver hemorrhage. mice homozygous for a knock-in allele exhibit altered glycogen homeostasis.|A|G|36|32.5|Non-synonymous|Alive, Line Propagating
6544106|IGL01346|6|35070248|I->N|0.99|Probably damaging|MGI:1859026|Cnot4|CCR4-NOT transcription complex, subunit 4 [Source:MGI Symbol;Acc:MGI:1859026]|Heterozygous||A|T|35|36.0|Non-synonymous|Alive, Line Propagating
6544107|IGL01346|17|26506321|N->D|0.01|Benign|MGI:105120|Dusp1|dual specificity phosphatase 1 [Source:MGI Symbol;Acc:MGI:105120]|Heterozygous|Homozygous mutant mice were viable, fertile, and showed no apparent morphological defects.|T|C|33|35.0|Non-synonymous|Alive, Line Propagating
6544108|IGL01346|16|33117120|N->K|0.31|Benign|MGI:2444736|Lmln|leishmanolysin-like (metallopeptidase M8 family) [Source:MGI Symbol;Acc:MGI:2444736]|Heterozygous||C|A|29|35.0|Non-synonymous|Alive, Line Propagating
6544109|IGL01346|11|62605987|T->A|0.89|Possibly damaging|MGI:2682293|Bc046404|cDNA sequence BC046404 [Source:MGI Symbol;Acc:MGI:2682293]|Heterozygous||T|C|28|34.5|Non-synonymous|Alive, Line Propagating
6544110|IGL01346|4|139020949|I->T|0.56|Possibly damaging|MGI:1924306|Tmco4|transmembrane and coiled-coil domains 4 [Source:MGI Symbol;Acc:MGI:1924306]|Heterozygous||T|C|27|35.0|Non-synonymous|Alive, Line Propagating
6544111|IGL01346|7|3240686|T->P|1.0|Probably damaging|MGI:2676630|Nlrp12|NLR family, pyrin domain containing 12 [Source:MGI Symbol;Acc:MGI:2676630]|Heterozygous||T|G|26|34.0|Non-synonymous|Alive, Line Propagating
6544112|IGL01346|11|36027405|R->Stop||N/A|MGI:1345184|Tenm2|teneurin transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:1345184]|Heterozygous||G|A|22|36.0|Non-synonymous|Alive, Line Propagating
6544113|IGL01346|13|67316685|K->Stop||N/A|MGI:3040707|Zfp595|zinc finger protein 595 [Source:MGI Symbol;Acc:MGI:3040707]|Heterozygous||T|A|20|39.5|Non-synonymous|Alive, Line Propagating
6544114|IGL01346|2|150311060|V->A||Unknown|MGI:1916527|3300002i08rik|RIKEN cDNA 3300002I08 gene [Source:MGI Symbol;Acc:MGI:1916527]|Heterozygous||A|G|14|35.5|Non-synonymous|Alive, Line Propagating
6544115|IGL01346|3|139419874|Disrupted splicing|||MGI:2685863|Stpg2|sperm tail PG rich repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685863]|Heterozygous||A|G|60|35.0|Splice|Alive, Line Propagating
6544116|IGL01346|2|122287202|Disrupted splicing|||MGI:3036280|Duox2|dual oxidase 2 [Source:MGI Symbol;Acc:MGI:3036280]|Heterozygous||A|T|48|39.0|Splice|Alive, Line Propagating
6544117|IGL01346|6|140534566|Disrupted splicing|||MGI:1923802|Plekha5|pleckstrin homology domain containing, family A member 5 [Source:MGI Symbol;Acc:MGI:1923802]|Heterozygous||A|G|44|37.5|Splice|Alive, Line Propagating
6544118|IGL01346|2|120873122|Disrupted splicing|||MGI:1277977|Ubr1|ubiquitin protein ligase E3 component n-recognin 1 [Source:MGI Symbol;Acc:MGI:1277977]|Heterozygous|Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed.|A|G|30|35.0|Splice|Alive, Line Propagating
6544119|IGL01346|8|25934523|Disrupted splicing|||MGI:1202300|Kcnu1|potassium channel, subfamily U, member 1 [Source:MGI Symbol;Acc:MGI:1202300]|Heterozygous|Homozygous male mutants are infertile with impaird sperm capacitation.|T|C|29|36.0|Splice|Alive, Line Propagating
6544120|IGL01346|4|16132775|Disrupted splicing|||MGI:1891456|Ripk2|receptor (TNFRSF)-interacting serine-threonine kinase 2 [Source:MGI Symbol;Acc:MGI:1891456]|Heterozygous||A|G|26|37.5|Splice|Alive, Line Propagating
6544121|IGL01346|2|130791846|Disrupted splicing|||MGI:1923029|4930402h24rik|RIKEN cDNA 4930402H24 gene [Source:MGI Symbol;Acc:MGI:1923029]|Heterozygous||A|G|24|32.5|Splice|Alive, Line Propagating
6544122|IGL01346|5|65221739|Disrupted splicing|||MGI:2443231|Wdr19|WD repeat domain 19 [Source:MGI Symbol;Acc:MGI:2443231]|Heterozygous||C|T|19|35.0|Splice|Alive, Line Propagating
6544123|IGL01346|11|106830915|Disrupted splicing|||MGI:1913563|Smurf2|SMAD specific E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:1913563]|Heterozygous|Mice homozygous for a null allele are viable and only display gastrulation defects in combination with a Smurf1 knock-out allele.|T|A|16|32.5|Splice|Alive, Line Propagating
6544740|IGL01347|8|54651345|V->I|||MGI:1924662|Wdr17|WD repeat domain 17 [Source:MGI Symbol;Acc:MGI:1924662]|Heterozygous||C|T|212|39.0|Non-synonymous|Alive, Line Propagating
6544741|IGL01347|14|51570850|C->S|1.0|Probably damaging|MGI:4938002, MGI:3646060|Gm17175,gm5622|predicted gene 5622 [Source:MGI Symbol;Acc:MGI:3646060],predicted gene 17175 [Source:MGI Symbol;Acc:MGI:4938002]|Heterozygous||A|T|169|37.0|Non-synonymous|Alive, Line Propagating
6544742|IGL01347|5|125454517|C->G|0.99|Probably damaging|MGI:1924059|Bri3bp|Bri3 binding protein [Source:MGI Symbol;Acc:MGI:1924059]|Heterozygous||T|G|132|35.0|Non-synonymous|Alive, Line Propagating
6544743|IGL01347|7|100305933|L->I|||MGI:2444049|P4ha3|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III [Source:MGI Symbol;Acc:MGI:2444049]|Heterozygous||C|A|132|35.0|Non-synonymous|Alive, Line Propagating
6544744|IGL01347|10|79035611|T->A|0.14|Benign|MGI:1333808|Olfr57|olfactory receptor 57 [Source:MGI Symbol;Acc:MGI:1333808]|Heterozygous||A|G|129|37.0|Non-synonymous|Alive, Line Propagating
6544745|IGL01347|3|88484963|H->R|0.6|Possibly damaging|MGI:96794|Lmna|lamin A [Source:MGI Symbol;Acc:MGI:96794]|Heterozygous|Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, and hyperkeratosis, and die by 8 weeks of age.|T|C|118|37.0|Non-synonymous|Alive, Line Propagating
6544746|IGL01347|11|70395679|I->T||Unknown|MGI:1922523|Pelp1|proline, glutamic acid and leucine rich protein 1 [Source:MGI Symbol;Acc:MGI:1922523]|Heterozygous||A|G|115|37.0|Non-synonymous|Alive, Line Propagating
6544747|IGL01347|18|65991610|I->V|0.99|Probably damaging|MGI:1917611|Lman1|lectin, mannose-binding, 1 [Source:MGI Symbol;Acc:MGI:1917611]|Heterozygous||T|C|111|35.0|Non-synonymous|Alive, Line Propagating
6544748|IGL01347|15|82616777|I->F|||MGI:2385022|Cyp2d34|cytochrome P450, family 2, subfamily d, polypeptide 34 [Source:MGI Symbol;Acc:MGI:2385022]|Heterozygous||T|A|107|39.0|Non-synonymous|Alive, Line Propagating
6544749|IGL01347|1|79436821|I->L|0.15|Benign|MGI:103033|Scg2|secretogranin II [Source:MGI Symbol;Acc:MGI:103033]|Heterozygous||T|A|88|39.0|Non-synonymous|Alive, Line Propagating
6544750|IGL01347|7|27160292|V->G|0.02|Benign|MGI:1932287|Egln2|EGL nine homolog 2 (C. elegans) [Source:MGI Symbol;Acc:MGI:1932287]|Heterozygous|Homozygotes are viable with no apparent abnormalities in cardiovascular, hematopoietic, or placental morphology and development.|A|C|87|35.0|Non-synonymous|Alive, Line Propagating
6544751|IGL01347|19|7457280|N->S||Benign|MGI:1339970|Rtn3|reticulon 3 [Source:MGI Symbol;Acc:MGI:1339970]|Heterozygous||T|C|85|38.0|Non-synonymous|Alive, Line Propagating
6544752|IGL01347|10|97674731|D->G|1.0|Probably damaging|MGI:107942|Epyc|epiphycan [Source:MGI Symbol;Acc:MGI:107942]|Heterozygous||A|G|82|39.0|Non-synonymous|Alive, Line Propagating
6544753|IGL01347|6|141754466|Y->Stop||N/A|MGI:3643685|Gm5724|predicted gene 5724 [Source:MGI Symbol;Acc:MGI:3643685]|Heterozygous||A|T|82|39.0|Non-synonymous|Alive, Line Propagating
6544754|IGL01347|16|87957593|R->Q|||MGI:95814|Grik1|glutamate receptor, ionotropic, kainate 1 [Source:MGI Symbol;Acc:MGI:95814]|Heterozygous|Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced.|C|T|80|35.0|Non-synonymous|Alive, Line Propagating
6544755|IGL01347|11|80353442|L->P|1.0|Probably damaging|MGI:2179276|Rhbdl3|rhomboid, veinlet-like 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2179276]|Heterozygous||T|C|78|35.0|Non-synonymous|Alive, Line Propagating
6544756|IGL01347|17|87078911|T->I|0.23|Benign|MGI:3643804|Gm5499|predicted pseudogene 5499 [Source:MGI Symbol;Acc:MGI:3643804]|Heterozygous||C|T|77|35.0|Non-synonymous|Alive, Line Propagating
6544757|IGL01347|1|178870675|F->S|1.0|Probably damaging|MGI:2447076|Kif26b|kinesin family member 26B [Source:MGI Symbol;Acc:MGI:2447076]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality with impaired kidney development due to loss of cortical nephrogenic zone mesenchyme and failure of ureteric buds to invade and branch into the mesenchyme.|T|C|74|35.0|Non-synonymous|Alive, Line Propagating
6544758|IGL01347|15|98776945|S->P||Unknown|MGI:108061|Wnt10b|wingless related MMTV integration site 10b [Source:MGI Symbol;Acc:MGI:108061]|Heterozygous|Homozygous mutant mice fed a low- or high-fat diet exhibit accelerated myogenic differentiation of myoblasts and those fed a high-fat diet exhibit excessive lipid accumulation in actively regenerating muscle.|A|G|74|34.0|Non-synonymous|Alive, Line Propagating
6544759|IGL01347|17|64313028|S->A|0.12|Benign|MGI:2159342|Pja2|praja 2, RING-H2 motif containing [Source:MGI Symbol;Acc:MGI:2159342]|Heterozygous||A|C|70|36.5|Non-synonymous|Alive, Line Propagating
6544760|IGL01347|6|90406121|V->M|0.92|Possibly damaging|MGI:2141635|Ccdc37|coiled-coil domain containing 37 [Source:MGI Symbol;Acc:MGI:2141635]|Heterozygous||C|T|63|37.0|Non-synonymous|Alive, Line Propagating
6544761|IGL01347|1|175720333|L->F|0.02|Benign|MGI:1923070|Wdr64|WD repeat domain 64 [Source:MGI Symbol;Acc:MGI:1923070]|Heterozygous||A|T|61|38.0|Non-synonymous|Alive, Line Propagating
6544762|IGL01347|2|120608805|S->P||Benign|MGI:1913856|Lrrc57|leucine rich repeat containing 57 [Source:MGI Symbol;Acc:MGI:1913856]|Heterozygous||A|G|61|39.0|Non-synonymous|Alive, Line Propagating
6544763|IGL01347|11|95120533|L->H|0.96|Probably damaging|MGI:94903|Dlx3|distal-less homeobox 3 [Source:MGI Symbol;Acc:MGI:94903]|Heterozygous|Homozygous null mutants die at embryonic day 9.5-10.0 with defects in the labyrinthine trophoblast of the chorioallantoic placenta.|T|A|59|35.0|Non-synonymous|Alive, Line Propagating
6544764|IGL01347|13|100070203|K->N||Unknown|MGI:1347077|Bdp1|B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB [Source:MGI Symbol;Acc:MGI:1347077]|Heterozygous||T|A|57|37.0|Non-synonymous|Alive, Line Propagating
6544765|IGL01347|11|51654788|M->K||Unknown|MGI:2144709|D930048n14rik|RIKEN cDNA D930048N14 gene [Source:MGI Symbol;Acc:MGI:2144709]|Heterozygous||T|A|56|35.0|Non-synonymous|Alive, Line Propagating
6544766|IGL01347|7|25314835|N->S|0.04|Benign|MGI:3607779|Tmem145|transmembrane protein 145 [Source:MGI Symbol;Acc:MGI:3607779]|Heterozygous||A|G|55|35.0|Non-synonymous|Alive, Line Propagating
6544767|IGL01347|1|36498034|E->K|0.73|Possibly damaging|MGI:2151060|Cnnm4|cyclin M4 [Source:MGI Symbol;Acc:MGI:2151060]|Heterozygous||G|A|51|35.0|Non-synonymous|Alive, Line Propagating
6544768|IGL01347|1|150426987|R->Q|||MGI:1922066|Tpr|translocated promoter region [Source:MGI Symbol;Acc:MGI:1922066]|Heterozygous||G|A|48|39.0|Non-synonymous|Alive, Line Propagating
6544769|IGL01347|10|94582285|L->P|1.0|Probably damaging|MGI:2442900|Tmcc3|transmembrane and coiled coil domains 3 [Source:MGI Symbol;Acc:MGI:2442900]|Heterozygous||T|C|45|39.0|Non-synonymous|Alive, Line Propagating
6544770|IGL01347|11|120788260|V->A|||MGI:2384801|Gps1|G protein pathway suppressor 1 [Source:MGI Symbol;Acc:MGI:2384801]|Heterozygous||T|C|45|37.0|Non-synonymous|Alive, Line Propagating
6544771|IGL01347|5|21226320|E->G|1.0|Probably damaging|MGI:2442259|Pion|pigeon homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2442259]|Heterozygous||A|G|45|39.0|Non-synonymous|Alive, Line Propagating
6544772|IGL01347|1|174070066|I->T||Benign|MGI:3030264|Olfr430|olfactory receptor 430 [Source:MGI Symbol;Acc:MGI:3030264]|Heterozygous||T|C|43|36.0|Non-synonymous|Alive, Line Propagating
6544773|IGL01347|19|18691454|I->V|0.01|Benign|MGI:1914633|2410127l17rik|RIKEN cDNA 2410127L17 gene [Source:MGI Symbol;Acc:MGI:1914633]|Heterozygous||A|G|43|40.0|Non-synonymous|Alive, Line Propagating
6544774|IGL01347|1|31203960|D->E|1.0|Probably damaging|MGI:1918238, MGI:2672844|4931428l18rik,lgsn|RIKEN cDNA 4931428L18 gene [Source:MGI Symbol;Acc:MGI:1918238],lengsin, lens protein with glutamine synthetase domain [Source:MGI Symbol;Acc:MGI:2672844]|Heterozygous||T|A|41|38.0|Non-synonymous|Alive, Line Propagating
6544775|IGL01347|11|69652288|D->G|0.05|Benign|MGI:1346074|Fxr2|fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]|Heterozygous|Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.|A|G|40|36.5|Non-synonymous|Alive, Line Propagating
6544776|IGL01347|18|34317670|P->S|0.97|Probably damaging|MGI:88039|Apc|adenomatosis polyposis coli [Source:MGI Symbol;Acc:MGI:88039]|Heterozygous|Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.|C|T|39|37.0|Non-synonymous|Alive, Line Propagating
6544777|IGL01347|6|48932543|Y->F||Benign|MGI:1917011|1600015i10rik|RIKEN cDNA 1600015I10 gene [Source:MGI Symbol;Acc:MGI:1917011]|Heterozygous||A|T|37|37.0|Non-synonymous|Alive, Line Propagating
6544778|IGL01347|6|32803903|N->S|0.04|Benign|MGI:1913325|Chchd3|coiled-coil-helix-coiled-coil-helix domain containing 3 [Source:MGI Symbol;Acc:MGI:1913325]|Heterozygous||T|C|36|37.0|Non-synonymous|Alive, Line Propagating
6544779|IGL01347|10|97568685|N->K|1.0|Probably damaging|MGI:109347|Lum|lumican [Source:MGI Symbol;Acc:MGI:109347]|Heterozygous|Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity.|T|A|35|37.0|Non-synonymous|Alive, Line Propagating
6544780|IGL01347|12|85608246|S->P||Benign|MGI:1932093|Jdp2|Jun dimerization protein 2 [Source:MGI Symbol;Acc:MGI:1932093]|Heterozygous|Mice homozygous for a null allele exhibit increased white adipose tissue differentiation, short tail, and enhanced would healing due to increased cell proliferation.|T|C|31|35.0|Non-synonymous|Alive, Line Propagating
6544781|IGL01347|13|21715894|Y->H|1.0|Probably damaging|MGI:2448403|Hist1h2bl|histone cluster 1, H2bl [Source:MGI Symbol;Acc:MGI:2448403]|Heterozygous||A|G|30|35.0|Non-synonymous|Alive, Line Propagating
6544782|IGL01347|7|44342120|T->A||Unknown|MGI:3613677|Shank1|SH3/ankyrin domain gene 1 [Source:MGI Symbol;Acc:MGI:3613677]|Heterozygous||A|G|28|36.0|Non-synonymous|Alive, Line Propagating
6544783|IGL01347|19|6845086|L->P|1.0|Probably damaging|MGI:1925567|Ccdc88b|coiled-coil domain containing 88B [Source:MGI Symbol;Acc:MGI:1925567]|Heterozygous||A|G|26|34.0|Non-synonymous|Alive, Line Propagating
6544784|IGL01347|5|38545715|F->I|0.77|Possibly damaging|MGI:1337100|Wdr1|WD repeat domain 1 [Source:MGI Symbol;Acc:MGI:1337100]|Heterozygous||A|T|23|35.0|Non-synonymous|Alive, Line Propagating
6544785|IGL01347|5|150980665|G->D|1.0|Probably damaging|MGI:1101771|Kl|klotho [Source:MGI Symbol;Acc:MGI:1101771]|Heterozygous|Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen.|G|A|21|38.0|Non-synonymous|Alive, Line Propagating
6544786|IGL01347|11|75307285|Y->H|1.0|Probably damaging|MGI:1915525|Rpa1|replication protein A1 [Source:MGI Symbol;Acc:MGI:1915525]|Heterozygous|Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas.|A|G|17|35.0|Non-synonymous|Alive, Line Propagating
6544787|IGL01347|7|128762405|V->A|||MGI:2450915|Sec23ip|Sec23 interacting protein [Source:MGI Symbol;Acc:MGI:2450915]|Heterozygous|Male mice homozygous for a null allele display reduced fertility with globozoospermia and impaired fertilization.|T|C|14|33.0|Non-synonymous|Alive, Line Propagating
6544788|IGL01347|9|119562441|K->Stop||N/A|MGI:98251|Scn5a|sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]|Heterozygous|Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.|T|A|14|36.5|Non-synonymous|Alive, Line Propagating
6544789|IGL01347|16|22600590|D->E||Benign|MGI:105060|Dgkg|diacylglycerol kinase, gamma [Source:MGI Symbol;Acc:MGI:105060]|Heterozygous||A|T|13|37.0|Non-synonymous|Alive, Line Propagating
6544790|IGL01347|16|74352856|D->G|1.0|Probably damaging|MGI:1890110|Robo2|roundabout homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890110]|Heterozygous|Homozygous mutants display postnatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and abnormal commissural axon growth.|T|C|11|35.0|Non-synonymous|Alive, Line Propagating
6544791|IGL01347|2|25398734|Q->R||Benign|MGI:1096863|Entpd2|ectonucleoside triphosphate diphosphohydrolase 2 [Source:MGI Symbol;Acc:MGI:1096863]|Heterozygous||A|G|10|37.0|Non-synonymous|Alive, Line Propagating
6544792|IGL01347|5|105331328|Disrupted splicing|||MGI:3646307|Gbp11|guanylate binding protein 11 [Source:MGI Symbol;Acc:MGI:3646307]|Heterozygous||G|A|165|39.0|Splice|Alive, Line Propagating
6544793|IGL01347|10|86901703|Disrupted splicing|||MGI:2178743|Stab2|stabilin 2 [Source:MGI Symbol;Acc:MGI:2178743]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|G|T|90|39.0|Splice|Alive, Line Propagating
6544794|IGL01347|2|34706696|Disrupted splicing|||MGI:1913941|Gapvd1|GTPase activating protein and VPS9 domains 1 [Source:MGI Symbol;Acc:MGI:1913941]|Heterozygous||A|G|52|37.0|Splice|Alive, Line Propagating
6544795|IGL01347|12|79252183|Disrupted splicing|||MGI:1924767|Zfyve26|zinc finger, FYVE domain containing 26 [Source:MGI Symbol;Acc:MGI:1924767]|Heterozygous||A|T|21|36.0|Splice|Alive, Line Propagating
6545386|IGL01348|5|145869007|V->E|1.0|Probably damaging|MGI:88609|Cyp3a11|cytochrome P450, family 3, subfamily a, polypeptide 11 [Source:MGI Symbol;Acc:MGI:88609]|Heterozygous||A|T|499|37.0|Non-synonymous|Alive
6545387|IGL01348|7|106329835|H->L|||MGI:4438566, MGI:3589937, MGI:2680361, MGI:5434075, MGI:3608893|Ac135640.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3KMS5]|Heterozygous||T|A|195|38.0|Non-synonymous|Alive
6545388|IGL01348|17|37752286|H->L||Benign|MGI:2177504|Olfr121|olfactory receptor 121 [Source:MGI Symbol;Acc:MGI:2177504]|Heterozygous||A|T|191|35.0|Non-synonymous|Alive
6545390|IGL01348|11|23517213|E->G|0.62|Possibly damaging|MGI:1914608|1700093k21rik|RIKEN cDNA 1700093K21 gene [Source:MGI Symbol;Acc:MGI:1914608]|Heterozygous||T|C|133|39.0|Non-synonymous|Alive
6545391|IGL01348|7|44515928|M->I|0.01|Benign|MGI:1336170|Mybpc2|myosin binding protein C, fast-type [Source:MGI Symbol;Acc:MGI:1336170]|Heterozygous||C|A|133|37.0|Non-synonymous|Alive
6545392|IGL01348|10|76070588|N->S|1.0|Probably damaging|MGI:1890478|Slc5a4b|solute carrier family 5 (neutral amino acid transporters, system A), member 4b [Source:MGI Symbol;Acc:MGI:1890478]|Heterozygous||T|C|109|36.0|Non-synonymous|Alive
6545393|IGL01348|16|59027794|T->S|0.85|Possibly damaging|MGI:3030020|Olfr186|olfactory receptor 186 [Source:MGI Symbol;Acc:MGI:3030020]|Heterozygous||T|A|98|36.0|Non-synonymous|Alive
6545394|IGL01348|11|6227974|N->D|0.96|Probably damaging|MGI:2685089|Npc1l1|NPC1-like 1 [Source:MGI Symbol;Acc:MGI:2685089]|Heterozygous||T|C|76|37.0|Non-synonymous|Alive
6545395|IGL01348|14|79453343|C->S|0.97|Probably damaging|MGI:3643058|Gm5465|predicted gene 5465 [Source:MGI Symbol;Acc:MGI:3643058]|Heterozygous||T|A|76|37.5|Non-synonymous|Alive
6545396|IGL01348|7|7135315|V->D|0.79|Possibly damaging|MGI:1923623|Zfp773|zinc finger protein 773 [Source:MGI Symbol;Acc:MGI:1923623]|Heterozygous||A|T|75|35.0|Non-synonymous|Alive
6545397|IGL01348|6|85817880|F->I|0.89|Possibly damaging|MGI:1916299|Cml5|camello-like 5 [Source:MGI Symbol;Acc:MGI:1916299]|Heterozygous||A|T|74|35.0|Non-synonymous|Alive
6545398|IGL01348|3|10419159|A->T|1.0|Probably damaging|MGI:1921968|Snx16|sorting nexin 16 [Source:MGI Symbol;Acc:MGI:1921968]|Heterozygous||C|T|68|38.0|Non-synonymous|Alive
6545399|IGL01348|2|152893591|K->R|1.0|Probably damaging|MGI:1919369|Tpx2|TPX2, microtubule-associated protein homolog (Xenopus laevis) [Source:MGI Symbol;Acc:MGI:1919369]|Heterozygous||A|G|67|38.0|Non-synonymous|Alive
6545400|IGL01348|14|24461763|D->E|1.0|Probably damaging|MGI:2681836|Polr3a|polymerase (RNA) III (DNA directed) polypeptide A [Source:MGI Symbol;Acc:MGI:2681836]|Heterozygous||A|T|63|35.0|Non-synonymous|Alive
6545401|IGL01348|9|105392913|G->S|1.0|Probably damaging|MGI:2442276|Nek11|NIMA (never in mitosis gene a)-related expressed kinase 11 [Source:MGI Symbol;Acc:MGI:2442276]|Heterozygous||C|T|63|37.0|Non-synonymous|Alive
6545402|IGL01348|8|71693004|Q->L|0.18|Benign|MGI:2152535|B3gnt3|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 [Source:MGI Symbol;Acc:MGI:2152535]|Heterozygous|Mice homozygous for a targeted mutation display increases in thermal pain sensation.|T|A|62|35.0|Non-synonymous|Alive
6545403|IGL01348|10|107711904|D->V|1.0|Probably damaging|MGI:1096349|Ptprq|protein tyrosine phosphatase, receptor type, Q [Source:MGI Symbol;Acc:MGI:1096349]|Heterozygous|Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.|T|A|61|37.0|Non-synonymous|Alive
6545404|IGL01348|3|94488228|Q->K|0.2|Benign|MGI:1926034|Celf3|CUGBP, Elav-like family member 3 [Source:MGI Symbol;Acc:MGI:1926034]|Heterozygous|Male mice homozygous for a null mutation display reduced sperm counts and motility but are fertile.|C|A|53|35.0|Non-synonymous|Alive
6545405|IGL01348|11|53402500|S->N||Benign|MGI:2136171|Aff4|AF4/FMR2 family, member 4 [Source:MGI Symbol;Acc:MGI:2136171]|Heterozygous|Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities.|G|A|52|37.0|Non-synonymous|Alive
6545406|IGL01348|9|109069295|S->P|0.98|Probably damaging|MGI:1925349|Atrip|ATR interacting protein [Source:MGI Symbol;Acc:MGI:1925349]|Heterozygous||A|G|51|37.0|Non-synonymous|Alive
6545407|IGL01348|1|136075152|V->A|||MGI:88294|Cacna1s|calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:MGI Symbol;Acc:MGI:88294]|Heterozygous|Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen.|T|C|50|35.5|Non-synonymous|Alive
6545408|IGL01348|11|97690240|V->A|0.03|Benign|MGI:99161|Pcgf2|polycomb group ring finger 2 [Source:MGI Symbol;Acc:MGI:99161]|Heterozygous|Homozygous null mutants exhibit multiple abnormalities of the axial skeleton (including homeotic transformations), grow markedly slower, and die either perinatally or between 3-6 weeks of age depending on genetic background.|A|G|50|35.0|Non-synonymous|Alive
6545409|IGL01348|11|121497076|D->E||Benign|MGI:1919686|Tbcd|tubulin-specific chaperone d [Source:MGI Symbol;Acc:MGI:1919686]|Heterozygous||T|A|50|39.0|Non-synonymous|Alive
6545410|IGL01348|2|125194131|N->S|1.0|Probably damaging|MGI:103150|Slc12a1|solute carrier family 12, member 1 [Source:MGI Symbol;Acc:MGI:103150]|Heterozygous|Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.|A|G|50|35.5|Non-synonymous|Alive
6545411|IGL01348|8|111071613|A->V|1.0|Probably damaging|MGI:2672935|Clec18a|C-type lectin domain family 18, member A [Source:MGI Symbol;Acc:MGI:2672935]|Heterozygous||G|A|50|35.0|Non-synonymous|Alive
6545412|IGL01348|1|74461702|S->G|0.08|Benign|MGI:2442483|Usp37|ubiquitin specific peptidase 37 [Source:MGI Symbol;Acc:MGI:2442483]|Heterozygous||T|C|49|40.0|Non-synonymous|Alive
6545413|IGL01348|11|67297780|K->E|1.0|Probably damaging|MGI:1339712|Myh8|myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]|Heterozygous||A|G|49|40.0|Non-synonymous|Alive
6545414|IGL01348|12|24493607|D->G|0.02|Benign|MGI:3648102|Gm16372|predicted pseudogene 16372 [Source:MGI Symbol;Acc:MGI:3648102]|Heterozygous||T|C|48|35.0|Non-synonymous|Alive
6545415|IGL01348|13|33091415|Q->H||Benign|MGI:2445361|Serpinb1b|serine (or cysteine) peptidase inhibitor, clade B, member 1b [Source:MGI Symbol;Acc:MGI:2445361]|Heterozygous||A|T|48|38.5|Non-synonymous|Alive
6545416|IGL01348|19|18877651|K->N|1.0|Probably damaging|MGI:2675603|Trpm6|transient receptor potential cation channel, subfamily M, member 6 [Source:MGI Symbol;Acc:MGI:2675603]|Heterozygous||A|T|47|36.0|Non-synonymous|Alive
6545417|IGL01348|9|62744579|N->S|||MGI:2442114|Itga11|integrin alpha 11 [Source:MGI Symbol;Acc:MGI:2442114]|Heterozygous|Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors.|A|G|47|36.0|Non-synonymous|Alive
6545418|IGL01348|18|77673917|I->T|0.61|Possibly damaging|MGI:2444951|8030462n17rik|RIKEN cDNA 8030462N17 gene [Source:MGI Symbol;Acc:MGI:2444951]|Heterozygous||A|G|46|37.0|Non-synonymous|Alive
6545419|IGL01348|4|94859658|Q->K|0.99|Probably damaging|MGI:98664|Tek|endothelial-specific receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:98664]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.|C|A|40|38.5|Non-synonymous|Alive
6545420|IGL01348|7|17210673|R->S|0.16|Benign|MGI:1891361|Psg29|pregnancy-specific glycoprotein 29 [Source:MGI Symbol;Acc:MGI:1891361]|Heterozygous||A|C|39|39.0|Non-synonymous|Alive
6545421|IGL01348|15|72937009|E->V||Benign|MGI:1923760|Trappc9|trafficking protein particle complex 9 [Source:MGI Symbol;Acc:MGI:1923760]|Heterozygous||T|A|37|35.0|Non-synonymous|Alive
6545422|IGL01348|2|59933687|V->A|0.92|Possibly damaging|MGI:2442782|Baz2b|bromodomain adjacent to zinc finger domain, 2B [Source:MGI Symbol;Acc:MGI:2442782]|Heterozygous||A|G|33|37.0|Non-synonymous|Alive
6545423|IGL01348|5|38713207|D->G|1.0|Probably damaging|MGI:1351468|Clnk|cytokine-dependent hematopoietic cell linker [Source:MGI Symbol;Acc:MGI:1351468]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive
6545424|IGL01348|5|81726723|T->A|1.0|Probably damaging|MGI:2441950|Lphn3|latrophilin 3 [Source:MGI Symbol;Acc:MGI:2441950]|Heterozygous||A|G|32|33.5|Non-synonymous|Alive
6545425|IGL01348|10|22286179|N->T|0.99|Probably damaging|MGI:3649078|H60b|histocompatibility 60b [Source:MGI Symbol;Acc:MGI:3649078]|Heterozygous||A|C|30|39.5|Non-synonymous|Alive
6545426|IGL01348|2|130137379|D->G|1.0|Probably damaging|MGI:3044321|Tgm6|transglutaminase 6 [Source:MGI Symbol;Acc:MGI:3044321]|Heterozygous||A|G|30|38.0|Non-synonymous|Alive
6545427|IGL01348|1|37388905|T->I|1.0|Probably damaging|MGI:1931123|Inpp4a|inositol polyphosphate-4-phosphatase, type I [Source:MGI Symbol;Acc:MGI:1931123]|Heterozygous|Homozygotes for a spontaneous mutation exhibit small size, ataxia, loss of cerebellar and hippocampal CA1 neurons, and death by 24 days of age from seizures and/or malnutrition.|C|T|29|37.0|Non-synonymous|Alive
6545428|IGL01348|12|69618092|R->H|1.0|Probably damaging|MGI:98355|Sos2|son of sevenless homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:98355]|Heterozygous|Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.|C|T|29|36.0|Non-synonymous|Alive
6545429|IGL01348|7|25763309|R->W|1.0|Probably damaging|MGI:1347244|Axl|AXL receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:1347244]|Heterozygous|Homozygous mutant mice are phenotypically normal, however in conjunction with mutations in other related receptor tyrosine kinases, mutations of this gene results in fertility defects, autoimmunity abnormalities, and aberrant apoptosis.|G|A|28|34.0|Non-synonymous|Alive
6545430|IGL01348|9|110629146|N->T|1.0|Probably damaging|MGI:2448554|Nbeal2|neurobeachin-like 2 [Source:MGI Symbol;Acc:MGI:2448554]|Heterozygous||T|G|26|34.5|Non-synonymous|Alive
6545431|IGL01348|16|13132934|F->L|1.0|Probably damaging|MGI:1354163|Ercc4|excision repair cross-complementing rodent repair deficiency, complementation group 4 [Source:MGI Symbol;Acc:MGI:1354163]|Heterozygous|Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation.|T|C|25|38.0|Non-synonymous|Alive
6545432|IGL01348|18|52694736|I->F|0.93|Possibly damaging|MGI:891990|Gykl1|glycerol kinase-like 1 [Source:MGI Symbol;Acc:MGI:891990]|Heterozygous||A|T|23|35.0|Non-synonymous|Alive
6545433|IGL01348|16|10510727|S->P|0.97|Probably damaging|MGI:108445|Ciita|class II transactivator [Source:MGI Symbol;Acc:MGI:108445]|Heterozygous|Homozygous targeted mutants are immunologically abnormal with extremely little MHC class II expression, greatly reduced serum IgG, and impaired T-dependent antigen responses.|T|C|22|36.0|Non-synonymous|Alive
6545434|IGL01348|12|75734993|Y->N|1.0|Probably damaging|MGI:2135760|Sgpp1|sphingosine-1-phosphate phosphatase 1 [Source:MGI Symbol;Acc:MGI:2135760]|Heterozygous||A|T|21|35.0|Non-synonymous|Alive
6545436|IGL01348|2|20806973|V->D|1.0|Probably damaging|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||T|A|20|34.0|Non-synonymous|Alive
6545437|IGL01348|2|90700428|T->A|0.79|Possibly damaging|MGI:1926227|Nup160|nucleoporin 160 [Source:MGI Symbol;Acc:MGI:1926227]|Heterozygous||A|G|20|35.5|Non-synonymous|Alive
6545438|IGL01348|2|121441796|S->P|1.0|Probably damaging|MGI:2673679|Ell3|elongation factor RNA polymerase II-like 3 [Source:MGI Symbol;Acc:MGI:2673679]|Heterozygous||A|G|20|35.5|Non-synonymous|Alive
6545439|IGL01348|11|68811803|T->S||Benign|MGI:1930780|Myh10|myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, cardiac abnormalities, and hydroencephaly.|A|T|18|37.0|Non-synonymous|Alive
6545440|IGL01348|15|81952018|V->A|0.55|Possibly damaging|MGI:1353418|Pmm1|phosphomannomutase 1 [Source:MGI Symbol;Acc:MGI:1353418]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns.|A|G|17|38.0|Non-synonymous|Alive
6545441|IGL01348|1|132067826|S->G|0.88|Possibly damaging|MGI:2442786|Mfsd4|major facilitator superfamily domain containing 4 [Source:MGI Symbol;Acc:MGI:2442786]|Heterozygous||T|C|16|35.0|Non-synonymous|Alive
6545442|IGL01348|7|142165172|C->Y||Unknown|MGI:3782737|Gm4553|predicted gene 4553 [Source:MGI Symbol;Acc:MGI:3782737]|Heterozygous||C|T|16|32.0|Non-synonymous|Alive
6545443|IGL01348|6|119183718|I->T|1.0|Probably damaging|MGI:2442404|Dcp1b|DCP1 decapping enzyme homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2442404]|Heterozygous||T|C|13|37.0|Non-synonymous|Alive
6545444|IGL01348|11|80095564|I->M||Benign|MGI:2442925|Atad5|ATPase family, AAA domain containing 5 [Source:MGI Symbol;Acc:MGI:2442925]|Heterozygous||A|G|12|37.5|Non-synonymous|Alive
6545445|IGL01348|8|15910596|H->P|0.02|Benign|MGI:2137383|Csmd1|CUB and Sushi multiple domains 1 [Source:MGI Symbol;Acc:MGI:2137383]|Heterozygous||T|G|10|34.5|Non-synonymous|Alive
6545446|IGL01348|18|12152963|Disrupted splicing|||MGI:1914128|Riok3|RIO kinase 3 (yeast) [Source:MGI Symbol;Acc:MGI:1914128]|Heterozygous||T|C|78|38.0|Splice|Alive
6545447|IGL01348|4|118393624|Disrupted splicing|||MGI:3033336|Szt2|seizure threshold 2 [Source:MGI Symbol;Acc:MGI:3033336]|Heterozygous||A|G|21|35.0|Splice|Alive
6545448|IGL01348|15|80256527|Disrupted splicing|||MGI:88096|Atf4|activating transcription factor 4 [Source:MGI Symbol;Acc:MGI:88096]|Heterozygous|Mice homozygous for one knock-out allele exhibit postnatal lethality, abnormal lens development, and reduced male fertility. Mice homozygous for a different knock-out allele exhibit abnormal pancreatic and skeletal development, glucose homeostasis, and insulin homeostasis.|T|C|18|35.0|Splice|Alive
6545449|IGL01348|4|102915156|Disrupted splicing|||MGI:1920344|Sgip1|SH3-domain GRB2-like (endophilin) interacting protein 1 [Source:MGI Symbol;Acc:MGI:1920344]|Heterozygous||G|T|17|37.0|Splice|Alive
6545450|IGL01348|11|73238252|Disrupted splicing|||MGI:1341787|Trpv1|transient receptor potential cation channel, subfamily V, member 1 [Source:MGI Symbol;Acc:MGI:1341787]|Heterozygous|Homozygous mutant mice demonstrate abnormal nociception, abnormal anxiety- and conditioning-related behaviors, increased sensitivity to DOCA-salt-induced renal damage, resistance to diet-induced obesity, altered taste sensitivity, and impaired febrile response.|G|A|16|37.0|Splice|Alive
6546063|IGL01299|10|23895051|L->Q|1.0|Probably damaging|MGI:108395|Vnn1|vanin 1 [Source:MGI Symbol;Acc:MGI:108395]|Heterozygous|Mice homozygous for disruptions of this gene develop normally and so no abnormalities in the maturation of lymphoid organs. However, membrane bound pantetheinase is absent in livers and kidneys resuulting in an absence of cysteamine in these organs.|T|A|108|40.0|Non-synonymous|Alive, Line Propagating
6546064|IGL01299|11|9298743|T->I|0.12|Benign|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||C|T|94|40.0|Non-synonymous|Alive, Line Propagating
6546065|IGL01299|10|75048466|Q->R|0.98|Probably damaging|MGI:1924127|Rab36|RAB36, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1924127]|Heterozygous||A|G|82|37.0|Non-synonymous|Alive, Line Propagating
6546066|IGL01299|2|4930793|W->R|1.0|Probably damaging|MGI:891978|Phyh|phytanoyl-CoA hydroxylase [Source:MGI Symbol;Acc:MGI:891978]|Heterozygous|When fed a high phytol diet, mice homozygous for a null allele exhibit hepatic lipidosis and steatosis, ataxia, peripheral neuropathy and loss of spermatogonia.|T|A|79|39.0|Non-synonymous|Alive, Line Propagating
6546067|IGL01299|17|32667974|A->S|||MGI:3645508|Cyp4f40|cytochrome P450, family 4, subfamily f, polypeptide 40 [Source:MGI Symbol;Acc:MGI:3645508]|Heterozygous||G|T|55|37.0|Non-synonymous|Alive, Line Propagating
6546068|IGL01299|1|162878030|N->K||Benign|MGI:1916776|Fmo2|flavin containing monooxygenase 2 [Source:MGI Symbol;Acc:MGI:1916776]|Heterozygous||A|T|50|39.0|Non-synonymous|Alive, Line Propagating
6546069|IGL01299|9|8653061|Q->K|1.0|Probably damaging|MGI:109523|Trpc6|transient receptor potential cation channel, subfamily C, member 6 [Source:MGI Symbol;Acc:MGI:109523]|Heterozygous|Mice homozygous for a null targeted mutation are viable and fertile and exhibit no overt abnormal phenotype.|C|A|35|40.0|Non-synonymous|Alive, Line Propagating
6546070|IGL01299|3|95776547|S->L|1.0|Probably damaging|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||G|A|30|40.5|Non-synonymous|Alive, Line Propagating
6546071|IGL01299|12|31640824|M->T||Benign|MGI:1919166|Dus4l|dihydrouridine synthase 4-like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919166]|Heterozygous||A|G|26|40.5|Non-synonymous|Alive, Line Propagating
6546072|IGL01299|3|95617277|T->A|||MGI:1917129|Golph3l|golgi phosphoprotein 3-like [Source:MGI Symbol;Acc:MGI:1917129]|Heterozygous||A|G|26|39.0|Non-synonymous|Alive, Line Propagating
6546073|IGL01299|12|110614107|R->L|0.01|Benign|MGI:103147|Dync1h1|dynein cytoplasmic 1 heavy chain 1 [Source:MGI Symbol;Acc:MGI:103147]|Heterozygous|Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms.|G|T|25|39.0|Non-synonymous|Alive, Line Propagating
6546074|IGL01299|11|74054475|I->F|0.98|Probably damaging|MGI:3030233|Olfr399|olfactory receptor 399 [Source:MGI Symbol;Acc:MGI:3030233]|Heterozygous||T|A|23|38.0|Non-synonymous|Alive, Line Propagating
6546075|IGL01299|7|30617128|T->I|0.96|Probably damaging|MGI:107460|Cox6b1|cytochrome c oxidase, subunit VIb polypeptide 1 [Source:MGI Symbol;Acc:MGI:107460]|Heterozygous||G|A|23|38.0|Non-synonymous|Alive, Line Propagating
6546076|IGL01299|11|33554476|T->A|1.0|Probably damaging|MGI:2387597|Gabrp|gamma-aminobutyric acid (GABA) A receptor, pi [Source:MGI Symbol;Acc:MGI:2387597]|Heterozygous|Homozygous mutation of this gene does not appear to result in a phenotype.|T|C|22|37.5|Non-synonymous|Alive, Line Propagating
6546077|IGL01299|13|74160263|R->G|||MGI:105064|Slc9a3|solute carrier family 9 (sodium/hydrogen exchanger), member 3 [Source:MGI Symbol;Acc:MGI:105064]|Heterozygous|Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.|A|G|22|39.5|Non-synonymous|Alive, Line Propagating
6546079|IGL01299|3|73049016|N->D|0.01|Benign|MGI:2679447|Slitrk3|SLIT and NTRK-like family, member 3 [Source:MGI Symbol;Acc:MGI:2679447]|Heterozygous||T|C|19|37.0|Non-synonymous|Alive, Line Propagating
6546080|IGL01299|2|32759546|V->D|0.99|Probably damaging|MGI:1353596|Tor2a|torsin family 2, member A [Source:MGI Symbol;Acc:MGI:1353596]|Heterozygous||T|A|18|37.0|Non-synonymous|Alive, Line Propagating
6546081|IGL01299|3|55690894|D->A|1.0|Probably damaging|MGI:1347075|Nbea|neurobeachin [Source:MGI Symbol;Acc:MGI:1347075]|Heterozygous|Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.|T|G|15|37.0|Non-synonymous|Alive, Line Propagating
6546082|IGL01299|10|58492817|V->A|0.94|Possibly damaging|MGI:894323|Ranbp2|RAN binding protein 2 [Source:MGI Symbol;Acc:MGI:894323]|Heterozygous|Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses.|T|C|14|39.5|Non-synonymous|Alive, Line Propagating
6546083|IGL01299|11|98210446|R->C||Unknown|MGI:1098802|Cdk12|cyclin-dependent kinase 12 [Source:MGI Symbol;Acc:MGI:1098802]|Heterozygous||C|T|11|41.0|Non-synonymous|Alive, Line Propagating
6546084|IGL01299|3|89781374|S->G|1.0|Probably damaging|MGI:1917343|Ube2q1|ubiquitin-conjugating enzyme E2Q (putative) 1 [Source:MGI Symbol;Acc:MGI:1917343]|Heterozygous||A|G|11|34.0|Non-synonymous|Alive, Line Propagating
6546085|IGL01299|3|132724877|I->F|0.9|Possibly damaging|MGI:2445052|Tbck|TBC1 domain containing kinase [Source:MGI Symbol;Acc:MGI:2445052]|Heterozygous||A|T|11|37.0|Non-synonymous|Alive, Line Propagating
6546086|IGL01299|11|88844254|Disrupted splicing|||MGI:104729|Akap1|A kinase (PRKA) anchor protein 1 [Source:MGI Symbol;Acc:MGI:104729]|Heterozygous|Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation.|C|T|94|39.0|Splice|Alive, Line Propagating
6546087|IGL01299|13|12225650|Disrupted splicing|||MGI:894292|Mtr|5-methyltetrahydrofolate-homocysteine methyltransferase [Source:MGI Symbol;Acc:MGI:894292]|Heterozygous|Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels.|T|C|25|41.0|Splice|Alive, Line Propagating
6546088|IGL01299|1|64570125|Disrupted splicing|||MGI:88494|Creb1|cAMP responsive element binding protein 1 [Source:MGI Symbol;Acc:MGI:88494]|Heterozygous|Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability.|T|C|23|40.0|Splice|Alive, Line Propagating
6546703|IGL01300|17|37672887|T->K|1.0|Probably damaging|MGI:2177501|Olfr118|olfactory receptor 118 [Source:MGI Symbol;Acc:MGI:2177501]|Heterozygous||C|A|171|40.0|Non-synonymous|Alive, Line Propagating
6546704|IGL01300|2|36377042|S->P|||MGI:3030172|Olfr338|olfactory receptor 338 [Source:MGI Symbol;Acc:MGI:3030172]|Heterozygous||T|C|139|39.0|Non-synonymous|Alive, Line Propagating
6546706|IGL01300|2|182000960|E->V|||MGI:3769929|Gm14496|predicted gene 14496 [Source:MGI Symbol;Acc:MGI:3769929]|Heterozygous||A|T|87|37.0|Non-synonymous|Alive, Line Propagating
6546707|IGL01300|2|66488053|Q->Stop||N/A|MGI:107636|Scn9a|sodium channel, voltage-gated, type IX, alpha [Source:MGI Symbol;Acc:MGI:107636]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures.|G|A|84|40.0|Non-synonymous|Alive, Line Propagating
6546708|IGL01300|16|29962220|N->D||Unknown|MGI:3584525|Gm1968|predicted gene 1968 [Source:MGI Symbol;Acc:MGI:3584525]|Heterozygous||T|C|53|41.0|Non-synonymous|Alive, Line Propagating
6546709|IGL01300|19|29309683|Y->N|||MGI:96629|Jak2|Janus kinase 2 [Source:MGI Symbol;Acc:MGI:96629]|Heterozygous|Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.|T|A|47|37.0|Non-synonymous|Alive, Line Propagating
6546710|IGL01300|11|94433912|H->R|0.09|Benign|MGI:1201678|Cacna1g|calcium channel, voltage-dependent, T type, alpha 1G subunit [Source:MGI Symbol;Acc:MGI:1201678]|Heterozygous|Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.|T|C|44|37.5|Non-synonymous|Alive, Line Propagating
6546711|IGL01300|17|21314075|I->N|0.99|Probably damaging|MGI:2159637|Vmn1r237|vomeronasal 1 receptor 237 [Source:MGI Symbol;Acc:MGI:2159637]|Heterozygous||T|A|43|40.0|Non-synonymous|Alive, Line Propagating
6546712|IGL01300|14|34099743|D->G|0.09|Benign|MGI:1201374|Anxa8|annexin A8 [Source:MGI Symbol;Acc:MGI:1201374]|Heterozygous||A|G|38|38.0|Non-synonymous|Alive, Line Propagating
6546713|IGL01300|14|56260196|R->C|0.03|Benign|MGI:109267|Gzmb|granzyme B [Source:MGI Symbol;Acc:MGI:109267]|Heterozygous||G|A|37|36.0|Non-synonymous|Alive, Line Propagating
6546714|IGL01300|7|29399828|Q->Stop||N/A|MGI:1921456|Sipa1l3|signal-induced proliferation-associated 1 like 3 [Source:MGI Symbol;Acc:MGI:1921456]|Heterozygous||G|A|37|38.0|Non-synonymous|Alive, Line Propagating
6546715|IGL01300|8|47501868|D->E||Benign|MGI:2444585|Trappc11|trafficking protein particle complex 11 [Source:MGI Symbol;Acc:MGI:2444585]|Heterozygous||A|T|37|40.0|Non-synonymous|Alive, Line Propagating
6546716|IGL01300|10|23864365|F->I|0.99|Probably damaging|MGI:1347055|Vnn3|vanin 3 [Source:MGI Symbol;Acc:MGI:1347055]|Heterozygous||T|A|35|38.0|Non-synonymous|Alive, Line Propagating
6546717|IGL01300|11|90249711|M->T||Unknown|MGI:1914718|Mmd|monocyte to macrophage differentiation-associated [Source:MGI Symbol;Acc:MGI:1914718]|Heterozygous||T|C|35|39.0|Non-synonymous|Alive, Line Propagating
6546718|IGL01300|16|62913811|F->L|0.89|Possibly damaging|MGI:1095733|Pros1|protein S (alpha) [Source:MGI Symbol;Acc:MGI:1095733]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia.|T|C|34|40.0|Non-synonymous|Alive, Line Propagating
6546719|IGL01300|2|166068461|T->S|1.0|Probably damaging|MGI:1276535|Ncoa3|nuclear receptor coactivator 3 [Source:MGI Symbol;Acc:MGI:1276535]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body weight. Mice homozygous for a targeted allele affecting phosphorylation sites exhibit increased body weight, increased adiposity, hypoactivity, abnormal glucose homeostasis, and increased susceptibility to chemically induced tumors.|A|T|34|37.5|Non-synonymous|Alive, Line Propagating
6546720|IGL01300|14|54963091|V->A|0.97|Probably damaging|MGI:97255|Myh6|myosin, heavy polypeptide 6, cardiac muscle, alpha [Source:MGI Symbol;Acc:MGI:97255]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects. Mice heterozygous for a knock-out allele exhibit abnormal heart morphology and physiology. Mice heterozygous for a knock-in allele exhibit dilated or hypertrophic cardiomyopathy.|A|G|33|36.0|Non-synonymous|Alive, Line Propagating
6546721|IGL01300|2|127535089|L->H|0.28|Benign|MGI:2138997|Prom2|prominin 2 [Source:MGI Symbol;Acc:MGI:2138997]|Heterozygous||A|T|31|36.0|Non-synonymous|Alive, Line Propagating
6546722|IGL01300|7|85957206|Y->H||Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||A|G|27|40.0|Non-synonymous|Alive, Line Propagating
6546723|IGL01300|10|52101713|M->T||Benign|MGI:97999|Ros1|Ros1 proto-oncogene [Source:MGI Symbol;Acc:MGI:97999]|Heterozygous|Homozygotes for targeted null mutations exhibit male infertility due to impaired sperm maturation in the epididymis. Mutant sperm are capable of fertilization in vitro but not in vivo.|A|G|25|39.0|Non-synonymous|Alive, Line Propagating
6546724|IGL01300|14|49173257|T->M|0.98|Probably damaging|MGI:1922259|Naa30|N(alpha)-acetyltransferase 30, NatC catalytic subunit [Source:MGI Symbol;Acc:MGI:1922259]|Heterozygous||C|T|16|34.0|Non-synonymous|Alive, Line Propagating
6546725|IGL01300|7|127314118|V->E|0.98|Probably damaging|MGI:96606|Itgal|integrin alpha L [Source:MGI Symbol;Acc:MGI:96606]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased leukocyte cell number, decreased T cell proliferation, abnormal leukocyte tethering and adhesion, and abnormal cytokine levels.|T|A|16|37.0|Non-synonymous|Alive, Line Propagating
6546726|IGL01300|15|55467976|R->Q||Unknown|MGI:1341272|Col14a1|collagen, type XIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1341272]|Heterozygous|Mice homozygous for a null mutation display abnormal tendon morphology and abnormal biomechanical properties of the skin and tendons.|G|A|15|41.0|Non-synonymous|Alive, Line Propagating
6546727|IGL01300|5|144804818|T->M|1.0|Probably damaging|MGI:2153272|Trrap|transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]|Heterozygous|Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.|C|T|15|40.0|Non-synonymous|Alive, Line Propagating
6546728|IGL01300|2|166638407|C->R|0.27|Benign|MGI:3040696|Prex1|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 [Source:MGI Symbol;Acc:MGI:3040696]|Heterozygous||A|G|14|38.5|Non-synonymous|Alive, Line Propagating
6546729|IGL01300|3|30613606|N->S|1.0|Probably damaging|MGI:1931415|Mynn|myoneurin [Source:MGI Symbol;Acc:MGI:1931415]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive, Line Propagating
6546730|IGL01300|1|107155843|Disrupted splicing|||MGI:2683293|Serpinb3b|serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3B [Source:MGI Symbol;Acc:MGI:2683293]|Heterozygous||A|G|68|38.0|Splice|Alive, Line Propagating
6546731|IGL01300|5|53068127|Disrupted splicing|||MGI:1342284|Slc34a2|solute carrier family 34 (sodium phosphate), member 2 [Source:MGI Symbol;Acc:MGI:1342284]|Heterozygous|Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling.|A|C|43|39.0|Splice|Alive, Line Propagating
6546732|IGL01300|4|14773663|Disrupted splicing|||MGI:1920564|Lrrc69|leucine rich repeat containing 69 [Source:MGI Symbol;Acc:MGI:1920564]|Heterozygous||C|T|32|40.5|Splice|Alive, Line Propagating
6546733|IGL01300|9|49447922|Disrupted splicing|||MGI:2444588|Ttc12|tetratricopeptide repeat domain 12 [Source:MGI Symbol;Acc:MGI:2444588]|Heterozygous||A|T|29|39.0|Splice|Alive, Line Propagating
6546734|IGL01300|9|79775100|Disrupted splicing|||MGI:106402|Tmem30a|transmembrane protein 30A [Source:MGI Symbol;Acc:MGI:106402]|Heterozygous||A|G|18|39.5|Splice|Alive, Line Propagating
6546735|IGL01300|10|62395261|Disrupted splicing|||MGI:2384910|Hkdc1|hexokinase domain containing 1 [Source:MGI Symbol;Acc:MGI:2384910]|Heterozygous||A|G|13|39.0|Splice|Alive, Line Propagating
6546736|IGL01300|19|53641852|Disrupted splicing|||MGI:1339795|Smc3|structural maintenance of chromosomes 3 [Source:MGI Symbol;Acc:MGI:1339795]|Heterozygous||T|A|13|39.0|Splice|Alive, Line Propagating
6561222|IGL01374|7|108924581|K->I|0.84|Possibly damaging|MGI:2444084|Nlrp10|NLR family, pyrin domain containing 10 [Source:MGI Symbol;Acc:MGI:2444084]|Heterozygous|Mice homozygous for a knock-out allele exhibit no affect on DSS-induced colitis susceptibility on co-housed wild-type mice.|T|A|105|40.0|Non-synonymous|Alive
6561223|IGL01374|2|87990548|F->L|0.02|Benign|MGI:3030992|Olfr1158|olfactory receptor 1158 [Source:MGI Symbol;Acc:MGI:3030992]|Heterozygous||T|C|92|40.0|Non-synonymous|Alive
6561224|IGL01374|7|101773128|V->A|1.0|Probably damaging|MGI:1100517|Clpb|ClpB caseinolytic peptidase B [Source:MGI Symbol;Acc:MGI:1100517]|Heterozygous||T|C|82|37.0|Non-synonymous|Alive
6561225|IGL01374|9|14751490|F->L||Benign|MGI:95594|Fut4|fucosyltransferase 4 [Source:MGI Symbol;Acc:MGI:95594]|Heterozygous|Mice homozygous for a knock-out allele show a modest increase in blood neutrophils, monocytes and eosinophils, and increased leukocyte rolling velocities.|G|T|79|38.0|Non-synonymous|Alive
6561226|IGL01374|7|26759079|P->L|0.01|Benign|MGI:107303|Cyp2b19|cytochrome P450, family 2, subfamily b, polypeptide 19 [Source:MGI Symbol;Acc:MGI:107303]|Heterozygous||C|T|70|38.0|Non-synonymous|Alive
6561227|IGL01374|11|54338419|V->A|0.99|Probably damaging|MGI:894291|Acsl6|acyl-CoA synthetase long-chain family member 6 [Source:MGI Symbol;Acc:MGI:894291]|Heterozygous||T|C|60|37.0|Non-synonymous|Alive
6561228|IGL01374|9|44696167|L->P|0.01|Benign|MGI:2143230|Phldb1|pleckstrin homology-like domain, family B, member 1 [Source:MGI Symbol;Acc:MGI:2143230]|Heterozygous||A|G|54|37.0|Non-synonymous|Alive
6561229|IGL01374|14|31147075|Y->C|||MGI:2178742|Stab1|stabilin 1 [Source:MGI Symbol;Acc:MGI:2178742]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|T|C|53|40.0|Non-synonymous|Alive
6561230|IGL01374|11|61249002|V->I|0.01|Benign|MGI:1353452|Aldh3a2|aldehyde dehydrogenase family 3, subfamily A2 [Source:MGI Symbol;Acc:MGI:1353452]|Heterozygous||C|T|41|36.0|Non-synonymous|Alive
6561231|IGL01374|2|119153947|V->A|1.0|Probably damaging|MGI:1915059|Fam82a2|family with sequence similarity 82, member A2 [Source:MGI Symbol;Acc:MGI:1915059]|Heterozygous||A|G|41|33.0|Non-synonymous|Alive
6561232|IGL01374|10|84374668|S->P|0.27|Benign|MGI:1925226|Nuak1|NUAK family, SNF1-like kinase, 1 [Source:MGI Symbol;Acc:MGI:1925226]|Heterozygous|Mice homozygous for a targeted disruption of this gene die perinatally displaying omphalocele with a failure in closure of the secondary body wall. No gross morphological defects are detected in brain.|A|G|40|37.0|Non-synonymous|Alive
6561233|IGL01374|11|69359980|E->G|0.66|Possibly damaging|MGI:1344395|Chd3|chromodomain helicase DNA binding protein 3 [Source:MGI Symbol;Acc:MGI:1344395]|Heterozygous||T|C|40|38.0|Non-synonymous|Alive
6561234|IGL01374|7|131146101|H->R|0.28|Benign|MGI:1914681|4933402n03rik|RIKEN cDNA 4933402N03 gene [Source:MGI Symbol;Acc:MGI:1914681]|Heterozygous||T|C|40|36.5|Non-synonymous|Alive
6561235|IGL01374|5|109330417|L->F||Benign|MGI:3647194|Vmn2r16|vomeronasal 2, receptor 16 [Source:MGI Symbol;Acc:MGI:3647194]|Heterozygous||C|T|39|40.0|Non-synonymous|Alive
6561236|IGL01374|18|37497989|Y->F|1.0|Probably damaging|MGI:2136757|Pcdhb19|protocadherin beta 19 [Source:MGI Symbol;Acc:MGI:2136757]|Heterozygous||A|T|37|36.0|Non-synonymous|Alive
6561237|IGL01374|7|86225649|M->V|0.44|Possibly damaging|MGI:3761332|Vmn2r76|vomeronasal 2, receptor 76 [Source:MGI Symbol;Acc:MGI:3761332]|Heterozygous||T|C|37|39.0|Non-synonymous|Alive
6561238|IGL01374|16|92077118|M->K|0.01|Benign|MGI:1858226, MGI:2153111|Slc5a3,mrps6|mitochondrial ribosomal protein S6 [Source:MGI Symbol;Acc:MGI:2153111],solute carrier family 5 (inositol transporters), member 3 [Source:MGI Symbol;Acc:MGI:1858226]|Heterozygous|NO_PHENOTYPE,Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves.|T|A|35|39.0|Non-synonymous|Alive
6561239|IGL01374|11|99371468|V->A|0.01|Benign|MGI:1918093|Krt28|keratin 28 [Source:MGI Symbol;Acc:MGI:1918093]|Heterozygous||A|G|34|37.0|Non-synonymous|Alive
6561240|IGL01374|3|38887498|N->S|0.21|Benign|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||A|G|34|35.0|Non-synonymous|Alive
6561241|IGL01374|2|37004930|H->R||Benign|MGI:3030192|Olfr358|olfactory receptor 358 [Source:MGI Symbol;Acc:MGI:3030192]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive
6561242|IGL01374|18|71374553|Y->C|1.0|Probably damaging|MGI:94869|Dcc|deleted in colorectal carcinoma [Source:MGI Symbol;Acc:MGI:94869]|Heterozygous|Homozygous animals show defects in axonal projections and hypothalamic development affecting both visual and neruoendocrine systems.|T|C|32|37.0|Non-synonymous|Alive
6561243|IGL01374|17|23478382|Y->C|||MGI:3648766|Vmn2r117|vomeronasal 2, receptor 117 [Source:MGI Symbol;Acc:MGI:3648766]|Heterozygous||T|C|31|38.0|Non-synonymous|Alive
6561244|IGL01374|11|34207984|C->G|1.0|Probably damaging|MGI:1096329|Foxi1|forkhead box I1 [Source:MGI Symbol;Acc:MGI:1096329]|Heterozygous|Homozygotes exhibit 50% perinatal lethality and inner ear defects resulting in vestibular and cochlear dysfunction. They are deaf with signs of impaired balance, and develop renal tubular acidosis in response to a chronic acidic load. Notably, 25% of heterozygotes die at birth.|A|C|30|34.0|Non-synonymous|Alive
6561245|IGL01374|9|53531724|S->T|0.08|Benign|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|A|T|28|39.0|Non-synonymous|Alive
6561246|IGL01374|3|135554780|W->Stop||N/A|MGI:88175|Manba|mannosidase, beta A, lysosomal [Source:MGI Symbol;Acc:MGI:88175]|Heterozygous|Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs.|G|A|25|39.0|Non-synonymous|Alive
6561247|IGL01374|10|120049368|S->P|0.8|Possibly damaging|MGI:1921303|Grip1|glutamate receptor interacting protein 1 [Source:MGI Symbol;Acc:MGI:1921303]|Heterozygous|Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions.|T|C|24|38.0|Non-synonymous|Alive
6561248|IGL01374|11|105347643|Y->Stop||N/A|MGI:107818|Mrc2|mannose receptor, C type 2 [Source:MGI Symbol;Acc:MGI:107818]|Heterozygous|Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.|T|A|22|37.5|Non-synonymous|Alive
6561249|IGL01374|11|53867664|F->L|0.66|Possibly damaging|MGI:1329012|Slc22a5|solute carrier family 22 (organic cation transporter), member 5 [Source:MGI Symbol;Acc:MGI:1329012]|Heterozygous|Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility.|A|G|21|38.0|Non-synonymous|Alive
6561250|IGL01374|11|67177424|T->S|||MGI:1339710|Myh2|myosin, heavy polypeptide 2, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339710]|Heterozygous||A|T|19|39.0|Non-synonymous|Alive
6561251|IGL01374|4|106380099|L->F|0.96|Probably damaging|MGI:1919936|Usp24|ubiquitin specific peptidase 24 [Source:MGI Symbol;Acc:MGI:1919936]|Heterozygous||C|T|18|39.0|Non-synonymous|Alive
6561252|IGL01374|4|126868957|F->I|0.99|Probably damaging|MGI:2140475, MGI:1915035|Zmym4,au040320|expressed sequence AU040320 [Source:MGI Symbol;Acc:MGI:2140475],zinc finger, MYM-type 4 [Source:MGI Symbol;Acc:MGI:1915035]|Heterozygous||A|T|17|35.0|Non-synonymous|Alive
6561253|IGL01374|9|67261923|A->S|0.04|Benign|MGI:1917799|Tln2|talin 2 [Source:MGI Symbol;Acc:MGI:1917799]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal muscle morphology.|C|A|17|38.0|Non-synonymous|Alive
6561254|IGL01374|4|140933185|N->K|1.0|Probably damaging|MGI:1338892|Padi2|peptidyl arginine deiminase, type II [Source:MGI Symbol;Acc:MGI:1338892]|Heterozygous||T|A|16|38.5|Non-synonymous|Alive
6561255|IGL01374|16|93844213|D->E|||MGI:2136841|Morc3|microrchidia 3 [Source:MGI Symbol;Acc:MGI:2136841]|Heterozygous|Mice homozygous for a null allele die at or within a day of birth.|T|A|13|41.0|Non-synonymous|Alive
6561256|IGL01374|18|43989404|F->Y|1.0|Probably damaging|MGI:1919682|Spink5|serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]|Heterozygous|Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.|T|A|10|37.0|Non-synonymous|Alive
6561259|IGL01374|4|88783341|Disrupted splicing|||MGI:2448469|Ifnz|interferon zeta [Source:MGI Symbol;Acc:MGI:2448469]|Heterozygous||G|A|38|37.0|Splice|Alive
6561260|IGL01374|2|126383657|Disrupted splicing|||MGI:1859664|Atp8b4|ATPase, class I, type 8B, member 4 [Source:MGI Symbol;Acc:MGI:1859664]|Heterozygous||A|T|26|39.0|Splice|Alive
6561261|IGL01374|4|136327418|Disrupted splicing|||MGI:1891692|Hnrnpr|heterogeneous nuclear ribonucleoprotein R [Source:MGI Symbol;Acc:MGI:1891692]|Heterozygous||T|C|24|38.5|Splice|Alive
6561262|IGL01374|5|38228047|Disrupted splicing|||MGI:107470|Lyar|Ly1 antibody reactive clone [Source:MGI Symbol;Acc:MGI:107470]|Heterozygous||C|A|24|39.0|Splice|Alive
6561263|IGL01374|19|8713337|Disrupted splicing|||MGI:96955|Slc3a2|solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 [Source:MGI Symbol;Acc:MGI:96955]|Heterozygous|Homozygous mutant mice display embryonic lethality.|C|T|19|37.0|Splice|Alive
6561264|IGL01374|13|45568427|Disrupted splicing|||MGI:104783|Atxn1|ataxin 1 [Source:MGI Symbol;Acc:MGI:104783]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation.|T|C|16|32.5|Splice|Alive
6561265|IGL01374|2|157836693|Disrupted splicing|||MGI:1913892|Ctnnbl1|catenin, beta like 1 [Source:MGI Symbol;Acc:MGI:1913892]|Heterozygous||T|A|13|39.0|Splice|Alive
6561860|IGL01375|2|88767466|V->A||Benign|MGI:3031034|Olfr1200|olfactory receptor 1200 [Source:MGI Symbol;Acc:MGI:3031034]|Heterozygous||A|G|129|39.0|Non-synonymous|Alive
6561861|IGL01375|4|136443173|T->A|0.02|Benign|MGI:96276|Htr1d|5-hydroxytryptamine (serotonin) receptor 1D [Source:MGI Symbol;Acc:MGI:96276]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|A|G|90|36.0|Non-synonymous|Alive
6561862|IGL01375|13|24094471|I->V|0.98|Probably damaging|MGI:1915982|Lrrc16a|leucine rich repeat containing 16A [Source:MGI Symbol;Acc:MGI:1915982]|Heterozygous||T|C|86|39.0|Non-synonymous|Alive
6561863|IGL01375|9|105644604|I->T|0.37|Benign|MGI:1922919|Pik3r4|phosphatidylinositol 3 kinase, regulatory subunit, polypeptide 4, p150 [Source:MGI Symbol;Acc:MGI:1922919]|Heterozygous||T|C|79|37.0|Non-synonymous|Alive
6561864|IGL01375|10|118860687|V->A|1.0|Probably damaging|MGI:1330301|Dyrk2|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 [Source:MGI Symbol;Acc:MGI:1330301]|Heterozygous||A|G|71|35.0|Non-synonymous|Alive
6561865|IGL01375|18|84958279|S->P|0.03|Benign|MGI:1354755|Fbxo15|F-box protein 15 [Source:MGI Symbol;Acc:MGI:1354755]|Heterozygous|Both male and female homozygous null mice develop normally and are fertile.|T|C|71|39.0|Non-synonymous|Alive
6561868|IGL01375|12|34985632|T->A|0.56|Possibly damaging|MGI:1922706|Prps1l1|phosphoribosyl pyrophosphate synthetase 1-like 1 [Source:MGI Symbol;Acc:MGI:1922706]|Heterozygous||A|G|66|38.0|Non-synonymous|Alive
6561869|IGL01375|5|89179734|C->R|0.97|Probably damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|T|C|66|39.0|Non-synonymous|Alive
6561870|IGL01375|12|116229676|A->E|0.12|Benign|MGI:2445085|Wdr60|WD repeat domain 60 [Source:MGI Symbol;Acc:MGI:2445085]|Heterozygous||G|T|60|38.0|Non-synonymous|Alive
6561871|IGL01375|15|98141309|E->G|0.99|Probably damaging|MGI:1925791|Asb8|ankyrin repeat and SOCS box-containing 8 [Source:MGI Symbol;Acc:MGI:1925791]|Heterozygous||T|C|59|39.0|Non-synonymous|Alive
6561872|IGL01375|12|104220476|V->I||Unknown|MGI:2182838|Serpina3f|serine (or cysteine) peptidase inhibitor, clade A, member 3F [Source:MGI Symbol;Acc:MGI:2182838]|Heterozygous||G|A|56|39.5|Non-synonymous|Alive
6561873|IGL01375|5|43903597|M->V||Benign|MGI:107474|Cd38|CD38 antigen [Source:MGI Symbol;Acc:MGI:107474]|Heterozygous|Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion.|A|G|53|39.0|Non-synonymous|Alive
6561874|IGL01375|11|119896436|F->I||Benign|MGI:1921620|Rptor|regulatory associated protein of MTOR, complex 1 [Source:MGI Symbol;Acc:MGI:1921620]|Heterozygous|Homozygous mutation of this gene results in lethality prior to somitogenesis.|T|A|47|39.0|Non-synonymous|Alive
6561875|IGL01375|14|27440163|R->G|1.0|Probably damaging|MGI:1921694|D14abb1e|DNA segment, Chr 14, Abbott 1 expressed [Source:MGI Symbol;Acc:MGI:1921694]|Heterozygous||A|G|44|36.0|Non-synonymous|Alive
6561876|IGL01375|13|55414828|R->S|0.66|Possibly damaging|MGI:2178800|Pfn3|profilin 3 [Source:MGI Symbol;Acc:MGI:2178800]|Heterozygous||T|A|42|35.0|Non-synonymous|Alive
6561877|IGL01375|18|34313654|S->L|0.99|Probably damaging|MGI:88039|Apc|adenomatosis polyposis coli [Source:MGI Symbol;Acc:MGI:88039]|Heterozygous|Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence.|C|T|42|40.0|Non-synonymous|Alive
6561878|IGL01375|4|145225416|Y->C|1.0|Probably damaging|MGI:1314883|Tnfrsf1b|tumor necrosis factor receptor superfamily, member 1b [Source:MGI Symbol;Acc:MGI:1314883]|Heterozygous|Homozygotes for targeted null mutations exhibit altered inflammatory responses in a variety of experimental conditions, impaired recovery from spinal cord injury, enhanced ischemia-reperfusion-induced retinal damage, and resistance to cerebral malaria.|T|C|42|35.0|Non-synonymous|Alive
6561879|IGL01375|11|78160082|N->S|0.8|Possibly damaging|MGI:1202880|Traf4|TNF receptor associated factor 4 [Source:MGI Symbol;Acc:MGI:1202880]|Heterozygous|Homozygotes for targeted null mutations show respiratory problems, various skeletal defects, spina bifida and partial lethality around embryonic day 14. Homozygotes for an ENU-induced mutation exhibit postnatal lethality and hypopigmentation.|T|C|37|38.0|Non-synonymous|Alive
6561880|IGL01375|15|99226993|W->Stop||N/A|MGI:1341723|Kcnh3|potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:MGI Symbol;Acc:MGI:1341723]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.|G|A|37|40.0|Non-synonymous|Alive
6561881|IGL01375|5|107136971|V->A||Benign|MGI:104637|Tgfbr3|transforming growth factor, beta receptor III [Source:MGI Symbol;Acc:MGI:104637]|Heterozygous|Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system.|A|G|37|36.0|Non-synonymous|Alive
6561882|IGL01375|17|85071991|G->D|0.87|Possibly damaging|MGI:2441932|Prepl|prolyl endopeptidase-like [Source:MGI Symbol;Acc:MGI:2441932]|Heterozygous||C|T|35|39.0|Non-synonymous|Alive
6561883|IGL01375|10|78188899|I->T|||MGI:1336209|Trappc10|trafficking protein particle complex 10 [Source:MGI Symbol;Acc:MGI:1336209]|Heterozygous||A|G|32|39.0|Non-synonymous|Alive
6561884|IGL01375|14|52372408|I->T|1.0|Probably damaging|MGI:3031346|Olfr1512|olfactory receptor 1512 [Source:MGI Symbol;Acc:MGI:3031346]|Heterozygous||A|G|32|40.5|Non-synonymous|Alive
6561885|IGL01375|9|69483019|R->Stop||N/A|MGI:88246|Anxa2|annexin A2 [Source:MGI Symbol;Acc:MGI:88246]|Heterozygous|Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased succeptibility to thrombosis.|C|T|32|38.0|Non-synonymous|Alive
6561886|IGL01375|15|99582102|T->A|0.98|Probably damaging|MGI:1096865|Aqp2|aquaporin 2 [Source:MGI Symbol;Acc:MGI:1096865]|Heterozygous|Mice homozygous for either a null or knock-in allele fail to thrive and die within days of birth due to severe urinary concentration defects and hydronephrosis. Other knock-in, spontaneous, ENU-induced, and tissue-specific knock-out mutants are growth retarded and polyuric but survive to adulthood.|A|G|30|35.0|Non-synonymous|Alive
6561887|IGL01375|16|21559372|Y->Stop||N/A|MGI:2146407|Vps8|vacuolar protein sorting 8 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146407]|Heterozygous||T|A|29|39.0|Non-synonymous|Alive
6561888|IGL01375|1|106727694|Y->N|0.08|Benign|MGI:1918000|Kdsr|3-ketodihydrosphingosine reductase [Source:MGI Symbol;Acc:MGI:1918000]|Heterozygous||A|T|19|36.0|Non-synonymous|Alive
6561889|IGL01375|15|76176440|I->N|0.99|Probably damaging|MGI:1277961|Plec|plectin [Source:MGI Symbol;Acc:MGI:1277961]|Heterozygous|Targeted mutations of this gene result in neonatal death, skin blistering, impaired myofibril integrity, reduced hemidesmosome number, and disintegration of intercalated disks in the heart. Mice lacking isoform 1 are viable with no skin blistering but leukocyte recruitment to wounds is impaired.|A|T|16|31.5|Non-synonymous|Alive
6561890|IGL01375|3|90159893|V->M|0.54|Possibly damaging|MGI:1924845|Nup210l|nucleoporin 210-like [Source:MGI Symbol;Acc:MGI:1924845]|Heterozygous|Mice homozygous for a transgene insertion exhibit male infertility, asthenozoospermia, teratozoospermia, azoospermia, and seminiferous tubule degeneration.|G|A|12|37.0|Non-synonymous|Alive
6561892|IGL01375|6|41615911|Disrupted splicing|||MGI:1096338|Ephb6|Eph receptor B6 [Source:MGI Symbol;Acc:MGI:1096338]|Heterozygous|T cell responses such as lymphokine secretion, proliferation, and the development of delayed-type skin hypersensitivity and experimental autoimmune encephalitis were compromised in homozygous null mutants.|T|A|62|38.0|Splice|Alive
6561893|IGL01375|2|71308050|Disrupted splicing|||MGI:1926080|Slc25a12|solute carrier family 25 (mitochondrial carrier, Aralar), member 12 [Source:MGI Symbol;Acc:MGI:1926080]|Heterozygous|Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.|T|C|50|39.0|Splice|Alive
6561894|IGL01375|2|69478566|Disrupted splicing|||MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|A|G|43|36.0|Splice|Alive
6561895|IGL01375|11|98629941|Disrupted splicing|||MGI:3044668|Gsdma3|gasdermin A3 [Source:MGI Symbol;Acc:MGI:3044668]|Heterozygous||T|C|30|35.0|Splice|Alive
6561896|IGL01375|13|98984142|Disrupted splicing|||MGI:1916632|1700024p04rik|RIKEN cDNA 1700024P04 gene [Source:MGI Symbol;Acc:MGI:1916632]|Heterozygous||A|G|28|39.0|Splice|Alive
6561897|IGL01375|5|48281714|Disrupted splicing|||MGI:1315205|Slit2|slit homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1315205]|Heterozygous|Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter.|C|T|16|40.5|Splice|Alive
6562523|IGL01376|7|28749883|Y->N|1.0|Probably damaging|MGI:1919234|Sars2|seryl-aminoacyl-tRNA synthetase 2 [Source:MGI Symbol;Acc:MGI:1919234]|Heterozygous||T|A|150|38.0|Non-synonymous|Alive
6562524|IGL01376|2|87252873|V->A|0.54|Possibly damaging|MGI:3030949|Olfr1115|olfactory receptor 1115 [Source:MGI Symbol;Acc:MGI:3030949]|Heterozygous||T|C|108|39.0|Non-synonymous|Alive
6562525|IGL01376|2|86639609|V->G||Benign|MGI:3030918|Olfr1084|olfactory receptor 1084 [Source:MGI Symbol;Acc:MGI:3030918]|Heterozygous||A|C|92|40.0|Non-synonymous|Alive
6562526|IGL01376|1|30830485|V->A|0.12|Benign|MGI:2446126|Phf3|PHD finger protein 3 [Source:MGI Symbol;Acc:MGI:2446126]|Heterozygous||A|G|76|38.0|Non-synonymous|Alive
6562527|IGL01376|13|91784671|Y->C|1.0|Probably damaging|MGI:1921406|Acot12|acyl-CoA thioesterase 12 [Source:MGI Symbol;Acc:MGI:1921406]|Heterozygous||A|G|75|38.0|Non-synonymous|Alive
6562528|IGL01376|5|5010839|I->M|1.0|Probably damaging|MGI:894318|Cdk14|cyclin-dependent kinase 14 [Source:MGI Symbol;Acc:MGI:894318]|Heterozygous||T|C|62|39.0|Non-synonymous|Alive
6562529|IGL01376|10|125994466|F->L||Benign|MGI:2443955|Lrig3|leucine-rich repeats and immunoglobulin-like domains 3 [Source:MGI Symbol;Acc:MGI:2443955]|Heterozygous|Mice homozygous for a null allele or severely hypomorphic gene trap allele exhibit fusion of the lateral semicircular canal and circling behavior.|T|A|52|38.0|Non-synonymous|Alive
6562531|IGL01376|10|86834164|Q->L|0.04|Benign|MGI:3513266|Nt5dc3|5'-nucleotidase domain containing 3 [Source:MGI Symbol;Acc:MGI:3513266]|Heterozygous||A|T|47|39.0|Non-synonymous|Alive
6562532|IGL01376|4|107375197|L->P|1.0|Probably damaging|MGI:1920037|Tmem48|transmembrane protein 48 [Source:MGI Symbol;Acc:MGI:1920037]|Heterozygous||T|C|44|40.0|Non-synonymous|Alive
6562533|IGL01376|16|19260565|H->N|||MGI:99548|Iglv2|immunoglobulin lambda variable 2 [Source:MGI Symbol;Acc:MGI:99548]|Heterozygous||G|T|42|40.0|Non-synonymous|Alive
6562534|IGL01376|15|76241677|T->K||Benign|MGI:3712326|Parp10|poly (ADP-ribose) polymerase family, member 10 [Source:MGI Symbol;Acc:MGI:3712326]|Heterozygous||G|T|41|35.0|Non-synonymous|Alive
6562535|IGL01376|18|10594892|C->Stop||N/A|MGI:1925055|Esco1|establishment of cohesion 1 homolog 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1925055]|Heterozygous||A|T|39|39.0|Non-synonymous|Alive
6562536|IGL01376|7|19006027|S->P|1.0|Probably damaging|MGI:2442159|Irf2bp1|interferon regulatory factor 2 binding protein 1 [Source:MGI Symbol;Acc:MGI:2442159]|Heterozygous||T|C|38|38.0|Non-synonymous|Alive
6562537|IGL01376|10|61114070|P->S|1.0|Probably damaging|MGI:1261415|Sgpl1|sphingosine phosphate lyase 1 [Source:MGI Symbol;Acc:MGI:1261415]|Heterozygous|Mice homozygous for a gene trapped allele exhibit premature death, skeletal and craniofacial defects, kidney defects, hematopoietic defects, decreased body weight and abnormal cell migration.|G|A|36|38.0|Non-synonymous|Alive
6562538|IGL01376|4|48456740|Y->C|0.13|Benign|MGI:1344413|Tex10|testis expressed gene 10 [Source:MGI Symbol;Acc:MGI:1344413]|Heterozygous||T|C|35|39.0|Non-synonymous|Alive
6562539|IGL01376|2|84770185|V->E|1.0|Probably damaging|MGI:894696|Serping1|serine (or cysteine) peptidase inhibitor, clade G, member 1 [Source:MGI Symbol;Acc:MGI:894696]|Heterozygous|Mutant mice exhibit an increased vascular permeability compared to controls.|A|T|34|33.5|Non-synonymous|Alive
6562540|IGL01376|15|96585556|L->R|1.0|Probably damaging|MGI:2145895|Slc38a1|solute carrier family 38, member 1 [Source:MGI Symbol;Acc:MGI:2145895]|Heterozygous||A|C|32|35.5|Non-synonymous|Alive
6562541|IGL01376|3|144826051|N->S|0.99|Probably damaging|MGI:2181989|Clca4|chloride channel calcium activated 4 [Source:MGI Symbol;Acc:MGI:2181989]|Heterozygous||T|C|31|40.0|Non-synonymous|Alive
6562542|IGL01376|13|90062050|S->T||Benign|MGI:1333799|Xrcc4|X-ray repair complementing defective repair in Chinese hamster cells 4 [Source:MGI Symbol;Acc:MGI:1333799]|Heterozygous|Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations.|A|T|29|38.0|Non-synonymous|Alive
6562543|IGL01376|2|37645651|M->T|0.98|Probably damaging|MGI:104626|Strbp|spermatid perinuclear RNA binding protein [Source:MGI Symbol;Acc:MGI:104626]|Heterozygous|Mice homozygous for a gene trap insertion exhibit premature death, a reduced body size and an abnormal clutching reflex. Minor brain abnormalities and spermatogenesis defects were also noted.|A|G|26|40.5|Non-synonymous|Alive
6562544|IGL01376|8|111319747|L->P|1.0|Probably damaging|MGI:1921818|Mlkl|mixed lineage kinase domain-like [Source:MGI Symbol;Acc:MGI:1921818]|Heterozygous||A|G|24|36.0|Non-synonymous|Alive
6562545|IGL01376|14|20460456|N->D||Benign|MGI:88031|Anxa7|annexin A7 [Source:MGI Symbol;Acc:MGI:88031]|Heterozygous||T|C|21|38.0|Non-synonymous|Alive
6562546|IGL01376|1|37628344|L->P|0.98|Probably damaging|MGI:1919347|2010300c02rik|RIKEN cDNA 2010300C02 gene [Source:MGI Symbol;Acc:MGI:1919347]|Heterozygous||A|G|20|37.5|Non-synonymous|Alive
6562547|IGL01376|12|54044586|T->S|||MGI:1351610|Npas3|neuronal PAS domain protein 3 [Source:MGI Symbol;Acc:MGI:1351610]|Heterozygous|Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth.|A|T|18|34.5|Non-synonymous|Alive
6562548|IGL01376|3|20270324|L->R|0.06|Benign|MGI:1923953|Cpb1|carboxypeptidase B1 (tissue) [Source:MGI Symbol;Acc:MGI:1923953]|Heterozygous||A|C|18|40.5|Non-synonymous|Alive
6562549|IGL01376|12|38857040|D->V|1.0|Probably damaging|MGI:99254|Etv1|ets variant gene 1 [Source:MGI Symbol;Acc:MGI:99254]|Heterozygous||A|T|17|37.0|Non-synonymous|Alive
6562550|IGL01376|8|23227327|D->G|0.1|Benign|MGI:1923847|Gins4|GINS complex subunit 4 (Sld5 homolog) [Source:MGI Symbol;Acc:MGI:1923847]|Heterozygous||T|C|16|40.0|Non-synonymous|Alive
6562551|IGL01376|2|35355628|I->K|0.11|Benign|MGI:1923109|4930568d16rik|RIKEN cDNA 4930568D16 gene [Source:MGI Symbol;Acc:MGI:1923109]|Heterozygous||A|T|14|40.0|Non-synonymous|Alive
6562552|IGL01376|3|27371828|E->G||Benign|MGI:2441906|Ghsr|growth hormone secretagogue receptor [Source:MGI Symbol;Acc:MGI:2441906]|Heterozygous|Homeostasis is disrupted by inactivation of this gene, namely growth hormone release and appetite stimulation.|A|G|12|35.5|Non-synonymous|Alive
6562553|IGL01376|6|94283093|R->Q|0.76|Possibly damaging|MGI:2674130|Magi1|membrane associated guanylate kinase, WW and PDZ domain containing 1 [Source:MGI Symbol;Acc:MGI:1203522]|Heterozygous||C|T|11|37.0|Non-synonymous|Alive
6562554|IGL01376|8|45026841|I->V||Benign|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|A|G|10|35.0|Non-synonymous|Alive
6562556|IGL01376|10|81178049|Disrupted splicing|||MGI:95288|Eef2|eukaryotic translation elongation factor 2 [Source:MGI Symbol;Acc:MGI:95288]|Heterozygous||G|A|46|38.0|Splice|Alive
6562557|IGL01376|14|77251843|Disrupted splicing|||MGI:3704449|Gm10132|predicted gene 10132 [Source:MGI Symbol;Acc:MGI:3704449]|Heterozygous||T|C|18|34.0|Splice|Alive
6562558|IGL01376|13|24836949|Disrupted splicing|||MGI:1860486|Tdp2|tyrosyl-DNA phosphodiesterase 2 [Source:MGI Symbol;Acc:MGI:1860486]|Heterozygous|Homozygous mutant mice carrying a gene trap insertion into intron 5 but subsequently shown to harbor a partial duplication of the wild-type allele at the ES cell level are born with a normal Mendelian distribution.|A|G|16|39.5|Splice|Alive
6563172|IGL01377|10|130452986|D->E|||MGI:3649066|Vmn2r86|vomeronasal 2, receptor 86 [Source:MGI Symbol;Acc:MGI:3649066]|Heterozygous||A|T|114|39.0|Non-synonymous|Alive
6563173|IGL01377|8|99033389|I->T|0.97|Probably damaging|MGI:107434|Cdh8|cadherin 8 [Source:MGI Symbol;Acc:MGI:107434]|Heterozygous||A|G|70|38.0|Non-synonymous|Alive
6563174|IGL01377|4|126459817|V->M|0.04|Benign|MGI:2446630|Eif2c1|eukaryotic translation initiation factor 2C, 1 [Source:MGI Symbol;Acc:MGI:2446630]|Heterozygous||C|T|68|36.5|Non-synonymous|Alive
6563175|IGL01377|2|92369331|Y->H|1.0|Probably damaging|MGI:2443769|Gyltl1b|glycosyltransferase-like 1B [Source:MGI Symbol;Acc:MGI:2443769]|Heterozygous||A|G|64|35.0|Non-synonymous|Alive
6563176|IGL01377|9|77650731|F->S|||MGI:3045305|Klhl31|kelch-like 31 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045305]|Heterozygous||T|C|56|39.0|Non-synonymous|Alive
6563177|IGL01377|9|21959297|D->G|0.98|Probably damaging|MGI:95408|Epor|erythropoietin receptor [Source:MGI Symbol;Acc:MGI:95408]|Heterozygous|Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia.|T|C|51|37.0|Non-synonymous|Alive
6563178|IGL01377|4|40977241|N->S||Benign|MGI:1921414|Nfx1|nuclear transcription factor, X-box binding 1 [Source:MGI Symbol;Acc:MGI:1921414]|Heterozygous||A|G|49|39.0|Non-synonymous|Alive
6563179|IGL01377|6|148245787|V->G|0.39|Benign|MGI:3039590|Tmtc1|transmembrane and tetratricopeptide repeat containing 1 [Source:MGI Symbol;Acc:MGI:3039590]|Heterozygous||A|C|49|37.0|Non-synonymous|Alive
6563180|IGL01377|15|76344962|R->Stop||N/A|MGI:1913695|Cyc1|cytochrome c-1 [Source:MGI Symbol;Acc:MGI:1913695]|Heterozygous||C|T|44|39.0|Non-synonymous|Alive
6563181|IGL01377|2|40601538|V->A|0.91|Possibly damaging|MGI:2151136|Lrp1b|low density lipoprotein-related protein 1B (deleted in tumors) [Source:MGI Symbol;Acc:MGI:2151136]|Heterozygous|Homozygous null mice appear normal, are fertile, have normal brain histology and function, normal plasma cholesterol and fasting triglycerides, and do not develop tumors.|A|G|43|40.0|Non-synonymous|Alive
6563182|IGL01377|9|109146645|R->Stop||N/A|MGI:2443323|Fbxw21|F-box and WD-40 domain protein 21 [Source:MGI Symbol;Acc:MGI:2443323]|Heterozygous||T|A|42|38.0|Non-synonymous|Alive
6563183|IGL01377|10|4560966|D->G|||MGI:2685067|Ccdc170|coiled-coil domain containing 170 [Source:MGI Symbol;Acc:MGI:2685067]|Heterozygous||A|G|37|39.0|Non-synonymous|Alive
6563184|IGL01377|8|41083135|K->E|0.93|Possibly damaging|MGI:2142572|Mtus1|mitochondrial tumor suppressor 1 [Source:MGI Symbol;Acc:MGI:2142572]|Heterozygous||T|C|37|40.0|Non-synonymous|Alive
6563185|IGL01377|5|67315830|S->A|0.02|Benign|MGI:1923690|Slc30a9|solute carrier family 30 (zinc transporter), member 9 [Source:MGI Symbol;Acc:MGI:1923690]|Heterozygous||T|G|36|39.0|Non-synonymous|Alive
6563186|IGL01377|1|165388724|S->T|0.21|Benign|MGI:1921356|Dcaf6|DDB1 and CUL4 associated factor 6 [Source:MGI Symbol;Acc:MGI:1921356]|Heterozygous||A|T|35|37.0|Non-synonymous|Alive
6563187|IGL01377|19|6090282|S->P|0.9|Possibly damaging|MGI:1915099|Cdca5|cell division cycle associated 5 [Source:MGI Symbol;Acc:MGI:1915099]|Heterozygous||T|C|34|35.0|Non-synonymous|Alive
6563188|IGL01377|6|82403655|S->P|0.64|Possibly damaging|MGI:98475|Tacr1|tachykinin receptor 1 [Source:MGI Symbol;Acc:MGI:98475]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced anxiety, pain and stress-related responses, reduced immunological response after a viral challenge, and reduced inflammatory responses.|T|C|34|38.0|Non-synonymous|Alive
6563189|IGL01377|6|124934691|N->D|0.7|Possibly damaging|MGI:1353554|Mlf2|myeloid leukemia factor 2 [Source:MGI Symbol;Acc:MGI:1353554]|Heterozygous||A|G|33|38.0|Non-synonymous|Alive
6563190|IGL01377|11|54056304|S->R|0.33|Benign|MGI:1353470|Pdlim4|PDZ and LIM domain 4 [Source:MGI Symbol;Acc:MGI:1353470]|Heterozygous||G|T|31|37.0|Non-synonymous|Alive
6563191|IGL01377|17|48152940|V->D|0.99|Probably damaging|MGI:2443476|A530064d06rik|RIKEN cDNA A530064D06 gene [Source:MGI Symbol;Acc:MGI:2443476]|Heterozygous||A|T|31|39.0|Non-synonymous|Alive
6563192|IGL01377|2|144559237|E->A|0.99|Probably damaging|MGI:1350925|Sec23b|SEC23B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1350925]|Heterozygous||A|C|30|39.0|Non-synonymous|Alive
6563193|IGL01377|4|63170725|T->I|1.0|Probably damaging|MGI:1098232|Kif12|kinesin family member 12 [Source:MGI Symbol;Acc:MGI:1098232]|Heterozygous||G|A|29|38.0|Non-synonymous|Alive
6563194|IGL01377|11|103872647|D->G|1.0|Probably damaging|MGI:104560|Nsf|N-ethylmaleimide sensitive fusion protein [Source:MGI Symbol;Acc:MGI:104560]|Heterozygous||T|C|26|39.0|Non-synonymous|Alive
6563195|IGL01377|12|100355112|F->L|0.13|Benign|MGI:2144724|Ttc7b|tetratricopeptide repeat domain 7B [Source:MGI Symbol;Acc:MGI:2144724]|Heterozygous||A|G|25|39.0|Non-synonymous|Alive
6563196|IGL01377|15|6580320|S->P||Benign|MGI:1346327|Fyb|FYN binding protein [Source:MGI Symbol;Acc:MGI:1346327]|Heterozygous|Mice homozygous for a null allele exhibit decreased T cell proliferation, thymocytes and platelet counts and decreased TCR-stimulated leukocyte adhesion.|T|C|25|39.0|Non-synonymous|Alive
6563197|IGL01377|18|77002457|R->G|1.0|Probably damaging|MGI:1924234|Katnal2|katanin p60 subunit A-like 2 [Source:MGI Symbol;Acc:MGI:1924234]|Heterozygous||T|C|25|38.0|Non-synonymous|Alive
6563198|IGL01377|13|96401631|V->A|0.9|Possibly damaging|MGI:1914713|Poc5|POC5 centriolar protein homolog (Chlamydomonas) [Source:MGI Symbol;Acc:MGI:1914713]|Heterozygous||T|C|24|39.0|Non-synonymous|Alive
6563199|IGL01377|4|102487402|E->G|0.99|Probably damaging|MGI:99557|Pde4b|phosphodiesterase 4B, cAMP specific [Source:MGI Symbol;Acc:MGI:99557]|Heterozygous|Mice homozygous for disruptions in this gene produce significantly less TNF-alpha in response to lipopolysaccharide stimulation.|A|G|23|39.0|Non-synonymous|Alive
6563200|IGL01377|4|107992965|D->V|1.0|Probably damaging|MGI:2444087|Slc1a7|solute carrier family 1 (glutamate transporter), member 7 [Source:MGI Symbol;Acc:MGI:2444087]|Heterozygous||A|T|23|38.0|Non-synonymous|Alive
6563201|IGL01377|14|60282034|Y->Stop||N/A|MGI:2145637|Mtmr6|myotubularin related protein 6 [Source:MGI Symbol;Acc:MGI:2145637]|Heterozygous||T|A|22|39.0|Non-synonymous|Alive
6563202|IGL01377|1|38036098|D->G|0.89|Possibly damaging|MGI:2441772|Eif5b|eukaryotic translation initiation factor 5B [Source:MGI Symbol;Acc:MGI:2441772]|Heterozygous||A|G|18|37.0|Non-synonymous|Alive
6563203|IGL01377|16|35825311|D->E|0.16|Benign|MGI:1913917|Hspbap1|Hspb associated protein 1 [Source:MGI Symbol;Acc:MGI:1913917]|Heterozygous||T|A|18|39.0|Non-synonymous|Alive
6563204|IGL01377|1|93603459|I->V|0.34|Benign|MGI:2385126|Farp2|FERM, RhoGEF and pleckstrin domain protein 2 [Source:MGI Symbol;Acc:MGI:2385126]|Heterozygous|Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL|A|G|17|37.0|Non-synonymous|Alive
6563205|IGL01377|1|180065143|Y->N|1.0|Probably damaging|MGI:2441841|Cdc42bpa|CDC42 binding protein kinase alpha [Source:MGI Symbol;Acc:MGI:2441841]|Heterozygous||T|A|16|39.5|Non-synonymous|Alive
6563206|IGL01377|8|61089456|T->A||Benign|MGI:97303|Nek1|NIMA (never in mitosis gene a)-related expressed kinase 1 [Source:MGI Symbol;Acc:MGI:97303]|Heterozygous|Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background.|A|G|16|39.0|Non-synonymous|Alive
6563207|IGL01377|13|81750147|R->H|||MGI:1920102|Mblac2|metallo-beta-lactamase domain containing 2 [Source:MGI Symbol;Acc:MGI:1920102]|Heterozygous||G|A|13|39.0|Non-synonymous|Alive
6563208|IGL01377|19|34672684|N->I|0.32|Benign|MGI:2147716|Slc16a12|solute carrier family 16 (monocarboxylic acid transporters), member 12 [Source:MGI Symbol;Acc:MGI:2147716]|Heterozygous||T|A|12|39.0|Non-synonymous|Alive
6563209|IGL01377|3|67474753|Y->F|1.0|Probably damaging|MGI:107339|Gfm1|G elongation factor, mitochondrial 1 [Source:MGI Symbol;Acc:MGI:107339]|Heterozygous||A|T|12|36.5|Non-synonymous|Alive
6563211|IGL01377|12|101987381|Disrupted splicing|||MGI:1861601|Cpsf2|cleavage and polyadenylation specific factor 2 [Source:MGI Symbol;Acc:MGI:1861601]|Heterozygous||T|A|43|39.0|Splice|Alive
6563212|IGL01377|12|89533012|Disrupted splicing|||MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|T|A|39|40.0|Splice|Alive
6563213|IGL01377|5|113276182|Disrupted splicing|||MGI:107320|Sgsm1|small G protein signaling modulator 1 [Source:MGI Symbol;Acc:MGI:107320]|Heterozygous||A|T|27|37.0|Splice|Alive
6563214|IGL01377|3|36973452|Disrupted splicing|||MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||T|C|20|38.5|Splice|Alive
6564505|IGL01379|4|144159566|V->E|0.42|Benign|MGI:2684047|Oog3|oogenesin 3 [Source:MGI Symbol;Acc:MGI:2684047]|Heterozygous||A|T|207|39.0|Non-synonymous|Alive
6564506|IGL01379|17|34858584|S->P|0.08|Benign|MGI:5142012, MGI:105975|Gm20547,cfb|predicted gene 20547 [Source:MGI Symbol;Acc:MGI:5142012],complement factor B [Source:MGI Symbol;Acc:MGI:105975]|Heterozygous|NO_PHENOTYPE,Homozygotes for targeted null mutations lack the alternative complement pathway, and have reduced overall complement activity.|A|G|111|40.0|Non-synonymous|Alive
6564507|IGL01379|16|32847234|Q->Stop||N/A|MGI:1915160|1700021k19rik|RIKEN cDNA 1700021K19 gene [Source:MGI Symbol;Acc:MGI:1915160]|Heterozygous||G|A|103|38.0|Non-synonymous|Alive
6564508|IGL01379|14|37081460|D->V|1.0|Probably damaging|MGI:2157782|Cdhr1|cadherin-related family member 1 [Source:MGI Symbol;Acc:MGI:2157782]|Heterozygous|Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses.|T|A|85|38.0|Non-synonymous|Alive
6564509|IGL01379|1|182431623|N->K|0.07|Benign|MGI:2138319|Trp53bp2|transformation related protein 53 binding protein 2 [Source:MGI Symbol;Acc:MGI:2138319]|Heterozygous|Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types|T|A|79|35.0|Non-synonymous|Alive
6564510|IGL01379|2|89112294|S->P|0.97|Probably damaging|MGI:3031055|Olfr1221|olfactory receptor 1221 [Source:MGI Symbol;Acc:MGI:3031055]|Heterozygous||A|G|63|40.0|Non-synonymous|Alive
6564511|IGL01379|5|21910827|D->G|1.0|Probably damaging|MGI:103022|Reln|reelin [Source:MGI Symbol;Acc:MGI:103022]|Heterozygous|Homozygotes for most spontaneous or ENU-induced mutations show impaired righting responses, ataxia, tremors, and cerebellum and hippocampus abnormalities. Some mutants show postnatal or premature death and decreased body size while others have abnormal retinas or olfactory bulbs or infertility.|T|C|59|38.0|Non-synonymous|Alive
6564512|IGL01379|7|131050088|N->K||Unknown|MGI:106210|Dmbt1|deleted in malignant brain tumors 1 [Source:MGI Symbol;Acc:MGI:106210]|Heterozygous|Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis.|T|A|56|37.0|Non-synonymous|Alive
6564513|IGL01379|X|56591177|V->D|1.0|Probably damaging|MGI:2384305|Mmgt1|membrane magnesium transporter 1 [Source:MGI Symbol;Acc:MGI:2384305]|Heterozygous||A|T|56|38.0|Non-synonymous|Alive
6564514|IGL01379|13|105052965|I->F|1.0|Probably damaging|MGI:106334|Rgs7bp|regulator of G-protein signalling 7 binding protein [Source:MGI Symbol;Acc:MGI:106334]|Heterozygous|Mice homozygous for a null allele exhibit normal behavior and brain morphology.|T|A|55|38.0|Non-synonymous|Alive
6564515|IGL01379|X|161777622|R->Stop||N/A|MGI:1344378|Rai2|retinoic acid induced 2 [Source:MGI Symbol;Acc:MGI:1344378]|Heterozygous||A|T|48|38.5|Non-synonymous|Alive
6564516|IGL01379|13|54524221|N->K|0.66|Possibly damaging|MGI:2442599|4732471d19rik|RIKEN cDNA 4732471D19 gene [Source:MGI Symbol;Acc:MGI:2442599]|Heterozygous||T|A|44|39.0|Non-synonymous|Alive
6564517|IGL01379|3|65553446|Y->N|1.0|Probably damaging|MGI:2159210|Tiparp|TCDD-inducible poly(ADP-ribose) polymerase [Source:MGI Symbol;Acc:MGI:2159210]|Heterozygous|Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects, kidney defects and embryonic hemorrhaging.|T|A|44|39.0|Non-synonymous|Alive
6564518|IGL01379|1|119715985|Y->Stop||N/A|MGI:1099792|Ptpn4|protein tyrosine phosphatase, non-receptor type 4 [Source:MGI Symbol;Acc:MGI:1099792]|Heterozygous|Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression.|A|T|40|40.0|Non-synonymous|Alive
6564519|IGL01379|7|85961344|I->V|0.32|Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||T|C|40|39.5|Non-synonymous|Alive
6564522|IGL01379|17|78866321|N->S|0.07|Benign|MGI:1353449|Eif2ak2|eukaryotic translation initiation factor 2-alpha kinase 2 [Source:MGI Symbol;Acc:MGI:1353449]|Heterozygous|Mice homozygous for disruptions in this gene display altered susceptibility to viral infection.|T|C|35|38.0|Non-synonymous|Alive
6564523|IGL01379|15|64806641|I->V|0.63|Possibly damaging|MGI:1341110|Adcy8|adenylate cyclase 8 [Source:MGI Symbol;Acc:MGI:1341110]|Heterozygous|Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD).|T|C|31|39.0|Non-synonymous|Alive
6564524|IGL01379|18|24601452|Q->L|0.51|Possibly damaging|MGI:2147279|Slc39a6|solute carrier family 39 (metal ion transporter), member 6 [Source:MGI Symbol;Acc:MGI:2147279]|Heterozygous||T|A|31|39.0|Non-synonymous|Alive
6564525|IGL01379|11|118038279|W->R|1.0|Probably damaging|MGI:1917176|Dnahc17|dynein, axonemal, heavy chain 17 [Source:MGI Symbol;Acc:MGI:1917176]|Heterozygous||A|G|30|36.0|Non-synonymous|Alive
6564526|IGL01379|18|66083158|G->C|1.0|Probably damaging|MGI:2445053|Ccbe1|collagen and calcium binding EGF domains 1 [Source:MGI Symbol;Acc:MGI:2445053]|Heterozygous||C|A|30|37.5|Non-synonymous|Alive
6564527|IGL01379|2|76738690|D->E||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|A|T|30|39.0|Non-synonymous|Alive
6564528|IGL01379|2|11757576|I->T||Benign|MGI:1354699|Fbxo18|F-box protein 18 [Source:MGI Symbol;Acc:MGI:1354699]|Heterozygous||A|G|29|39.0|Non-synonymous|Alive
6564529|IGL01379|4|116270936|K->E|0.01|Benign|MGI:109277|Pik3r3|phosphatidylinositol 3 kinase, regulatory subunit, polypeptide 3 (p55) [Source:MGI Symbol;Acc:MGI:109277]|Heterozygous||A|G|28|40.0|Non-synonymous|Alive
6564530|IGL01379|4|150642553|M->T|1.0|Probably damaging|MGI:2653235|Slc45a1|solute carrier family 45, member 1 [Source:MGI Symbol;Acc:MGI:2653235]|Heterozygous||A|G|24|37.0|Non-synonymous|Alive
6564531|IGL01379|7|19396890|I->N|0.55|Possibly damaging|MGI:1277971|Klc3|kinesin light chain 3 [Source:MGI Symbol;Acc:MGI:1277971]|Heterozygous||A|T|23|35.0|Non-synonymous|Alive
6564532|IGL01379|10|75576077|T->S|0.01|Benign|MGI:95706|Ggt1|gamma-glutamyltransferase 1 [Source:MGI Symbol;Acc:MGI:95706]|Heterozygous|Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span.|A|T|22|37.0|Non-synonymous|Alive
6564533|IGL01379|2|26368215|I->K|0.26|Benign|MGI:2443935|Snapc4|small nuclear RNA activating complex, polypeptide 4 [Source:MGI Symbol;Acc:MGI:2443935]|Heterozygous||A|T|20|34.5|Non-synonymous|Alive
6564534|IGL01379|1|150703307|S->A||Benign|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||A|C|19|40.0|Non-synonymous|Alive
6564535|IGL01379|3|28664017|H->Q|1.0|Probably damaging|MGI:1916264|Tnik|TRAF2 and NCK interacting kinase [Source:MGI Symbol;Acc:MGI:1916264]|Heterozygous||T|G|19|41.0|Non-synonymous|Alive
6564536|IGL01379|3|104895773|V->E|1.0|Probably damaging|MGI:2386964|St7l|suppression of tumorigenicity 7-like [Source:MGI Symbol;Acc:MGI:2386964]|Heterozygous||T|A|18|40.0|Non-synonymous|Alive
6564537|IGL01379|3|155088063|Y->C|||MGI:1922790|Fpgt|fucose-1-phosphate guanylyltransferase [Source:MGI Symbol;Acc:MGI:1922790]|Heterozygous||T|C|18|37.5|Non-synonymous|Alive
6564538|IGL01379|14|70441363|E->G|0.99|Probably damaging|MGI:1914315|Polr3d|polymerase (RNA) III (DNA directed) polypeptide D [Source:MGI Symbol;Acc:MGI:1914315]|Heterozygous||T|C|16|35.0|Non-synonymous|Alive
6564539|IGL01379|15|36790956|Q->K|0.82|Possibly damaging|MGI:109484|Ywhaz|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide [Source:MGI Symbol;Acc:MGI:109484]|Heterozygous||G|T|10|37.0|Non-synonymous|Alive
6564540|IGL01379|9|55015135|Disrupted splicing|||MGI:87887|Chrna3|cholinergic receptor, nicotinic, alpha polypeptide 3 [Source:MGI Symbol;Acc:MGI:87887]|Heterozygous|Homozygotes for a targeted null mutation show high postnatal and postweaning mortality. Mutants show reduced bladder contractility resulting in enlarged bladder, infections and urinary stones. Eyes are small, with dilated ocular pupils.|A|G|62|39.0|Splice|Alive
6564541|IGL01379|11|93100217|Disrupted splicing|||MGI:1919855|Car10|carbonic anhydrase 10 [Source:MGI Symbol;Acc:MGI:1919855]|Heterozygous||A|G|31|37.0|Splice|Alive
6565140|IGL01380|14|34353698|A->T|0.96|Probably damaging|MGI:1916384|Fam25c|family with sequence similarity 25, member C [Source:MGI Symbol;Acc:MGI:1916384]|Heterozygous||C|T|484|37.0|Non-synonymous|Alive
6565141|IGL01380|18|37479445|H->R|0.09|Benign|MGI:2136752|Pcdhb16|protocadherin beta 16 [Source:MGI Symbol;Acc:MGI:2136752]|Heterozygous||A|G|222|37.0|Non-synonymous|Alive
6565142|IGL01380|17|34335809|L->F|0.95|Probably damaging|MGI:95902|H2-eb2|histocompatibility 2, class II antigen E beta2 [Source:MGI Symbol;Acc:MGI:95902]|Heterozygous||G|T|189|37.0|Non-synonymous|Alive
6565143|IGL01380|11|73395191|M->K|0.97|Probably damaging|MGI:102698|Olfr1|olfactory receptor 1 [Source:MGI Symbol;Acc:MGI:102698]|Heterozygous||A|T|109|40.0|Non-synonymous|Alive
6565144|IGL01380|1|54727565|M->K||Benign|MGI:3045243|Ankrd44|ankyrin repeat domain 44 [Source:MGI Symbol;Acc:MGI:3045243]|Heterozygous||A|T|105|39.0|Non-synonymous|Alive
6565145|IGL01380|7|44586674|V->A|0.98|Probably damaging|MGI:109365|Napsa|napsin A aspartic peptidase [Source:MGI Symbol;Acc:MGI:109365]|Heterozygous||T|C|101|35.0|Non-synonymous|Alive
6565146|IGL01380|11|74665946|F->L|0.01|Benign|MGI:1921398|1300001i01rik|RIKEN cDNA 1300001I01 gene [Source:MGI Symbol;Acc:MGI:1921398]|Heterozygous||T|A|96|33.0|Non-synonymous|Alive
6565147|IGL01380|19|46367908|D->Y|1.0|Probably damaging|MGI:1922396|Tmem180|transmembrane protein 180 [Source:MGI Symbol;Acc:MGI:1922396]|Heterozygous||G|T|95|37.0|Non-synonymous|Alive
6565148|IGL01380|6|141540051|Y->H|1.0|Probably damaging|MGI:1889679|Slco1c1|solute carrier organic anion transporter family, member 1c1 [Source:MGI Symbol;Acc:MGI:1889679]|Heterozygous||T|C|93|37.0|Non-synonymous|Alive
6565149|IGL01380|1|184069014|I->T|0.98|Probably damaging|MGI:1927070|Dusp10|dual specificity phosphatase 10 [Source:MGI Symbol;Acc:MGI:1927070]|Heterozygous|Mice homozygous for a knock-out allele display alterations in both innate and adaptive immune responses.|T|C|91|36.0|Non-synonymous|Alive
6565150|IGL01380|6|71138756|S->A||Benign|MGI:3041254|Thnsl2|threonine synthase-like 2 (bacterial) [Source:MGI Symbol;Acc:MGI:3041254]|Heterozygous||A|C|90|40.0|Non-synonymous|Alive
6565151|IGL01380|7|29331372|H->R|||MGI:1921456|Sipa1l3|signal-induced proliferation-associated 1 like 3 [Source:MGI Symbol;Acc:MGI:1921456]|Heterozygous||T|C|89|35.0|Non-synonymous|Alive
6565152|IGL01380|6|129698798|I->V||Benign|MGI:3530275|Klri1|killer cell lectin-like receptor family I member 1 [Source:MGI Symbol;Acc:MGI:3530275]|Heterozygous||T|C|87|40.0|Non-synonymous|Alive
6565153|IGL01380|8|85231329|Y->F|1.0|Probably damaging|MGI:3030205|Olfr371|olfactory receptor 371 [Source:MGI Symbol;Acc:MGI:3030205]|Heterozygous||A|T|84|38.0|Non-synonymous|Alive
6565154|IGL01380|11|78304617|V->E|0.29|Benign|MGI:1927470|Spag5|sperm associated antigen 5 [Source:MGI Symbol;Acc:MGI:1927470]|Heterozygous|Mice homozygous for a targeted mutation are viable and fertile with normal breeding and mating behavio; no abnormalities in male reproductive system anatomy or histology or in spermatogenesis were detectable.|T|A|77|39.0|Non-synonymous|Alive
6565155|IGL01380|11|115346411|V->A|||MGI:1916852|Otop3|otopetrin 3 [Source:MGI Symbol;Acc:MGI:1916852]|Heterozygous||T|C|77|36.0|Non-synonymous|Alive
6565156|IGL01380|3|59932632|T->A||Benign|MGI:3028051|C130079g13rik|RIKEN cDNA C130079G13 gene [Source:MGI Symbol;Acc:MGI:3028051]|Heterozygous||A|G|76|38.0|Non-synonymous|Alive
6565157|IGL01380|7|102484385|C->Y|1.0|Probably damaging|MGI:3030378|Olfr544|olfactory receptor 544 [Source:MGI Symbol;Acc:MGI:3030378]|Heterozygous||C|T|73|39.0|Non-synonymous|Alive
6565158|IGL01380|10|7691780|M->K|0.63|Possibly damaging|MGI:1333883|Lats1|large tumor suppressor [Source:MGI Symbol;Acc:MGI:1333883]|Heterozygous|Homozygotes for a targeted null mutation exhibit high postnatal mortality, lack of mammary development, infertility, pituitary hyperplasia, reduced hormone levels, growth retardation, and susceptibility to sarcomas and ovarian stromal cell tumors.|T|A|72|40.0|Non-synonymous|Alive
6565159|IGL01380|7|126448770|M->L|0.26|Benign|MGI:105058|Atp2a1|ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Source:MGI Symbol;Acc:MGI:105058]|Heterozygous|Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology.|T|A|72|38.0|Non-synonymous|Alive
6565160|IGL01380|9|107788349|D->G|1.0|Probably damaging|MGI:1338037|Rbm6|RNA binding motif protein 6 [Source:MGI Symbol;Acc:MGI:1338037]|Heterozygous||T|C|71|40.0|Non-synonymous|Alive
6565161|IGL01380|16|32041544|V->E|0.01|Benign|MGI:1339984|Pak2|p21 protein (Cdc42/Rac)-activated kinase 2 [Source:MGI Symbol;Acc:MGI:1339984]|Heterozygous|Mice homozygous for a knock-out allele exhibit lethality between E8 and the postnatal period with prominent head folds, impaired somite development, and growth retardation. Mice homozygous for a knock-in allele exhibit increased cell proliferation and decreased apoptosis.|A|T|66|39.0|Non-synonymous|Alive
6565162|IGL01380|12|86761722|M->L||Benign|MGI:3646959|Gm6772|predicted gene 6772 [Source:MGI Symbol;Acc:MGI:3646959]|Heterozygous||A|T|61|39.0|Non-synonymous|Alive
6565163|IGL01380|13|97091951|T->M|0.98|Probably damaging|MGI:2444268|Fam169a|family with sequence similarity 169, member A [Source:MGI Symbol;Acc:MGI:2444268]|Heterozygous||C|T|61|40.0|Non-synonymous|Alive
6565164|IGL01380|8|85231146|S->Y|1.0|Probably damaging|MGI:3030205|Olfr371|olfactory receptor 371 [Source:MGI Symbol;Acc:MGI:3030205]|Heterozygous||C|A|61|38.0|Non-synonymous|Alive
6565165|IGL01380|10|24092107|H->L|1.0|Probably damaging|MGI:2685995|Taar8b|trace amine-associated receptor 8B [Source:MGI Symbol;Acc:MGI:2685995]|Heterozygous||T|A|57|34.0|Non-synonymous|Alive
6565166|IGL01380|2|26256647|Q->Stop|0.54|N/A|MGI:1924731|C030048h21rik|RIKEN cDNA C030048H21 gene [Source:MGI Symbol;Acc:MGI:1924731]|Heterozygous||G|A|56|38.0|Non-synonymous|Alive
6565167|IGL01380|17|12695374|N->S|0.04|Benign|MGI:96435|Igf2r|insulin-like growth factor 2 receptor [Source:MGI Symbol;Acc:MGI:96435]|Heterozygous||T|C|45|38.0|Non-synonymous|Alive
6565168|IGL01380|7|105762211|D->V|1.0|Probably damaging|MGI:2685011|Dchs1|dachsous 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685011]|Heterozygous||T|A|45|37.0|Non-synonymous|Alive
6565169|IGL01380|7|45627095|S->A||Benign|MGI:1920706|Izumo1|izumo sperm-egg fusion 1 [Source:MGI Symbol;Acc:MGI:1920706]|Heterozygous|Homozygous null male mice are infertile due to inability of sperm to fuse with the egg.|T|G|44|37.5|Non-synonymous|Alive
6565170|IGL01380|9|108084588|E->K|1.0|Probably damaging|MGI:96080|Mst1|macrophage stimulating 1 (hepatocyte growth factor-like) [Source:MGI Symbol;Acc:MGI:96080]|Heterozygous|Mice homozygous for a knock-out allele exhibit lipid-filled cytoplasmic vacuoles in hepatocytes throughout the liver lobules.|G|A|43|38.0|Non-synonymous|Alive
6565171|IGL01380|1|54987949|Y->C|||MGI:1932339|Sf3b1|splicing factor 3b, subunit 1 [Source:MGI Symbol;Acc:MGI:1932339]|Heterozygous|Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations.|T|C|42|39.0|Non-synonymous|Alive
6565172|IGL01380|17|32481858|I->S|0.64|Possibly damaging|MGI:2445210|Cyp4f39|cytochrome P450, family 4, subfamily f, polypeptide 39 [Source:MGI Symbol;Acc:MGI:2445210]|Heterozygous||T|G|41|39.0|Non-synonymous|Alive
6565173|IGL01380|16|55251770|V->A|0.99|Probably damaging|MGI:2443415|Zpld1|zona pellucida like domain containing 1 [Source:MGI Symbol;Acc:MGI:2443415]|Heterozygous||A|G|40|38.0|Non-synonymous|Alive
6565174|IGL01380|14|122379349|A->S|0.04|Benign|MGI:1916884|Clybl|citrate lyase beta like [Source:MGI Symbol;Acc:MGI:1916884]|Heterozygous||G|T|39|35.0|Non-synonymous|Alive
6565175|IGL01380|3|69025828|D->G|1.0|Probably damaging|MGI:1917349|Smc4|structural maintenance of chromosomes 4 [Source:MGI Symbol;Acc:MGI:1917349]|Heterozygous||A|G|33|39.0|Non-synonymous|Alive
6565176|IGL01380|11|106544315|Q->Stop||N/A|MGI:102465|Tex2|testis expressed gene 2 [Source:MGI Symbol;Acc:MGI:102465]|Heterozygous||G|A|32|34.5|Non-synonymous|Alive
6565177|IGL01380|2|126159927|L->Q|0.92|Possibly damaging|MGI:1916435|Dtwd1|DTW domain containing 1 [Source:MGI Symbol;Acc:MGI:1916435]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive
6565178|IGL01380|15|81671125|A->V|0.17|Benign|MGI:2443584|L3mbtl2|l(3)mbt-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2443584]|Heterozygous||C|T|27|39.0|Non-synonymous|Alive
6565180|IGL01380|17|46324022|V->L|0.13|Benign|MGI:2386976|Abcc10|ATP-binding cassette, sub-family C (CFTR/MRP), member 10 [Source:MGI Symbol;Acc:MGI:2386976]|Heterozygous|Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells.|C|A|23|40.0|Non-synonymous|Alive
6565181|IGL01380|7|119926564|A->T|1.0|Probably damaging|MGI:2683040|Dnahc3|dynein, axonemal, heavy chain 3 [Source:MGI Symbol;Acc:MGI:2683040]|Heterozygous||C|T|23|38.0|Non-synonymous|Alive
6565182|IGL01380|16|45250353|D->A|0.83|Possibly damaging|MGI:2658978|Btla|B and T lymphocyte associated [Source:MGI Symbol;Acc:MGI:2658978]|Heterozygous||A|C|20|39.0|Non-synonymous|Alive
6565183|IGL01380|12|83552507|R->C|1.0|Probably damaging|MGI:3026685|Zfyve1|zinc finger, FYVE domain containing 1 [Source:MGI Symbol;Acc:MGI:3026685]|Heterozygous||G|A|18|39.0|Non-synonymous|Alive
6565184|IGL01380|8|84559117|Y->C|1.0|Probably damaging|MGI:109482|Cacna1a|calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482]|Heterozygous|Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy.|A|G|18|35.0|Non-synonymous|Alive
6565185|IGL01380|9|21679073|M->V||Benign|MGI:88192|Smarca4|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [Source:MGI Symbol;Acc:MGI:88192]|Heterozygous|Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation. Mice homozygous for an ENU-induced mutation exhibit complete embryonic lethality during organogenesis and abnormal blood cell morphology/development.|A|G|17|36.0|Non-synonymous|Alive
6565186|IGL01380|17|84722730|D->G||Benign|MGI:1919666|Lrpprc|leucine-rich PPR-motif containing [Source:MGI Symbol;Acc:MGI:1919666]|Heterozygous||T|C|16|39.0|Non-synonymous|Alive
6565187|IGL01380|16|77093678|L->P||Benign|MGI:1353655|Usp25|ubiquitin specific peptidase 25 [Source:MGI Symbol;Acc:MGI:1353655]|Heterozygous||T|C|14|37.5|Non-synonymous|Alive
6565188|IGL01380|5|108180887|I->N|0.2|Benign|MGI:1922974|Ccdc18|coiled-coil domain containing 18 [Source:MGI Symbol;Acc:MGI:1922974]|Heterozygous||T|A|14|38.5|Non-synonymous|Alive
6565189|IGL01380|8|71480809|V->A||Unknown|MGI:2687327|Ano8|anoctamin 8 [Source:MGI Symbol;Acc:MGI:2687327]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive
6565190|IGL01380|9|37276557|Disrupted splicing|||MGI:2444488|Ccdc15|coiled-coil domain containing 15 [Source:MGI Symbol;Acc:MGI:2444488]|Heterozygous||A|T|168|38.0|Splice|Alive
6565192|IGL01380|5|31299633|Disrupted splicing|||MGI:1096345|Gckr|glucokinase regulatory protein [Source:MGI Symbol;Acc:MGI:1096345]|Heterozygous|Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis.|A|G|121|34.0|Splice|Alive
6565193|IGL01380|14|5863703|Disrupted splicing|||MGI:3644039|Gm8237|predicted gene 8237 [Source:MGI Symbol;Acc:MGI:3644039]|Heterozygous||A|T|108|40.0|Splice|Alive
6565195|IGL01380|10|53694686|Disrupted splicing|||MGI:1923156|Fam184a|family with sequence similarity 184, member A [Source:MGI Symbol;Acc:MGI:1923156]|Heterozygous||T|C|62|38.0|Splice|Alive
6565196|IGL01380|7|126564413|Disrupted splicing|||MGI:1926966|Eif3c|eukaryotic translation initiation factor 3, subunit C [Source:MGI Symbol;Acc:MGI:1926966]|Heterozygous|Mutations in this gene result in a range of abnormal limb development, including polydactyly, and white coat spotting.|C|T|61|38.0|Splice|Alive
6565197|IGL01380|9|119260101|Disrupted splicing|||MGI:1917378|Oxsr1|oxidative-stress responsive 1 [Source:MGI Symbol;Acc:MGI:1917378]|Heterozygous|Mice homozygous for a gene trapped allele are embryonic lethal.|A|T|44|40.0|Splice|Alive
6565198|IGL01380|14|31497810|Disrupted splicing|||MGI:1921677|Eaf1|ELL associated factor 1 [Source:MGI Symbol;Acc:MGI:1921677]|Heterozygous||T|A|33|40.0|Splice|Alive
6565199|IGL01380|2|3464259|Disrupted splicing|||MGI:1890396|Suv39h2|suppressor of variegation 3-9 homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1890396]|Heterozygous|Less than 5% of mice either heterozygous or homozygous for a reporter/null allele develop late-onset B cell lymphomas.|T|A|28|41.0|Splice|Alive
6565200|IGL01380|14|70967146|Disrupted splicing|||MGI:1195462|Gfra2|glial cell line derived neurotrophic factor family receptor alpha 2 [Source:MGI Symbol;Acc:MGI:1195462]|Heterozygous|Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression.|G|T|26|39.0|Splice|Alive
6565837|IGL01381|5|109219044|S->T||Benign|MGI:3649151|Vmn2r14|vomeronasal 2, receptor 14 [Source:MGI Symbol;Acc:MGI:3649151]|Heterozygous||A|T|117|40.0|Non-synonymous|Alive
6565838|IGL01381|5|26022758|M->K|||MGI:3645135|Gm5862|predicted gene 5862 [Source:MGI Symbol;Acc:MGI:3645135]|Heterozygous||A|T|91|39.0|Non-synonymous|Alive
6565839|IGL01381|1|53925694|T->A|0.14|Benign|MGI:2685817|Hecw2|HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:2685817]|Heterozygous||T|C|64|37.0|Non-synonymous|Alive
6565840|IGL01381|18|61117391|E->G|0.12|Benign|MGI:1339758|Csf1r|colony stimulating factor 1 receptor [Source:MGI Symbol;Acc:MGI:1339758]|Heterozygous|Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.|A|G|46|37.5|Non-synonymous|Alive
6565841|IGL01381|2|181234834|E->G|0.83|Possibly damaging|MGI:2385169|Bc006779|cDNA sequence BC006779 [Source:MGI Symbol;Acc:MGI:2385169]|Heterozygous||T|C|46|36.0|Non-synonymous|Alive
6565842|IGL01381|2|60797716|A->E|1.0|Probably damaging|MGI:1861774|Rbms1|RNA binding motif, single stranded interacting protein 1 [Source:MGI Symbol;Acc:MGI:1861774]|Heterozygous|Only about half the expected number of mice homozygous for disruptions in this gene are produced in matings of heterozygotes. Embryo sizes are reduced. Females have smaller than normal uteri and decreased levels of progesterone during estrus.|G|T|44|37.0|Non-synonymous|Alive
6565843|IGL01381|6|129500069|R->C|0.83|Possibly damaging|MGI:1261434|Olr1|oxidized low density lipoprotein (lectin-like) receptor 1 [Source:MGI Symbol;Acc:MGI:1261434]|Heterozygous|Homozygous mutation of this gene results in no obvious phenotype.|G|A|40|39.0|Non-synonymous|Alive
6565844|IGL01381|7|23866220|V->A|0.78|Possibly damaging|MGI:3033481|Vmn1r177|vomeronasal 1 receptor 177 [Source:MGI Symbol;Acc:MGI:3033481]|Heterozygous||A|G|38|40.0|Non-synonymous|Alive
6565845|IGL01381|17|24900577|M->R||Benign|MGI:1353598|Mapk8ip3|mitogen-activated protein kinase 8 interacting protein 3 [Source:MGI Symbol;Acc:MGI:1353598]|Heterozygous|Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure.|A|C|37|39.0|Non-synonymous|Alive
6565846|IGL01381|2|62547769|D->G|1.0|Probably damaging|MGI:109608|Fap|fibroblast activation protein [Source:MGI Symbol;Acc:MGI:109608]|Heterozygous|Mice homozygous for a targeted null mutations exhibit no discernable phenotype; mice are viable and fertile with no change in cancer susceptibility.|T|C|37|39.0|Non-synonymous|Alive
6565848|IGL01381|5|110289370|H->R||Benign|MGI:1196391|Pole|polymerase (DNA directed), epsilon [Source:MGI Symbol;Acc:MGI:1196391]|Heterozygous|Mice homozygous for a null allele exhibit increased incidence of tumors and premature death.|A|G|35|35.0|Non-synonymous|Alive
6565849|IGL01381|11|115878413|F->L|||MGI:2685534|Myo15b|myosin XVB [Source:MGI Symbol;Acc:MGI:2685534]|Heterozygous||T|C|33|39.0|Non-synonymous|Alive
6565850|IGL01381|6|48460959|G->S|1.0|Probably damaging|MGI:2674311|Sspo|SCO-spondin [Source:MGI Symbol;Acc:MGI:2674311]|Heterozygous||G|A|33|39.0|Non-synonymous|Alive
6565851|IGL01381|16|13811533|F->S|0.04|Benign|MGI:1925255|Rrn3|RRN3 RNA polymerase I transcription factor homolog (yeast) [Source:MGI Symbol;Acc:MGI:1925255]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, failure to undergo embryonic turning, delayed embryonic development, markedly reduced embryo size, and increased apoptosis.|T|C|32|38.5|Non-synonymous|Alive
6565852|IGL01381|2|32034966|S->P|0.99|Probably damaging|MGI:1095411|Nup214|nucleoporin 214 [Source:MGI Symbol;Acc:MGI:1095411]|Heterozygous|Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export.|T|C|32|40.0|Non-synonymous|Alive
6565853|IGL01381|2|86047311|Y->Stop||N/A|MGI:3030868|Olfr1034|olfactory receptor 1034 [Source:MGI Symbol;Acc:MGI:3030868]|Heterozygous||T|A|32|38.0|Non-synonymous|Alive
6565854|IGL01381|15|76705757|M->K|0.16|Benign|MGI:1931028|Recql4|RecQ protein-like 4 [Source:MGI Symbol;Acc:MGI:1931028]|Heterozygous||A|T|29|38.0|Non-synonymous|Alive
6565855|IGL01381|16|49172932|D->E|0.06|Benign|MGI:3643515|Myh15|myosin, heavy chain 15 [Source:MGI Symbol;Acc:MGI:3643515]|Heterozygous||T|A|28|37.5|Non-synonymous|Alive
6565856|IGL01381|17|34921578|R->H|1.0|Probably damaging|MGI:1917379|Slc44a4|solute carrier family 44, member 4 [Source:MGI Symbol;Acc:MGI:1917379]|Heterozygous||G|A|28|35.0|Non-synonymous|Alive
6565857|IGL01381|5|49961038|S->L|0.15|Benign|MGI:1917943|Gpr125|G protein-coupled receptor 125 [Source:MGI Symbol;Acc:MGI:1917943]|Heterozygous|Homozygous mutant mice are fertile and grossly normal.|G|A|28|38.5|Non-synonymous|Alive
6565858|IGL01381|6|121334876|D->A|1.0|Probably damaging|MGI:95629|Slc6a13|solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:MGI Symbol;Acc:MGI:95629]|Heterozygous||A|C|26|38.0|Non-synonymous|Alive
6565859|IGL01381|17|12232976|V->A|1.0|Probably damaging|MGI:1346875|Map3k4|mitogen-activated protein kinase kinase kinase 4 [Source:MGI Symbol;Acc:MGI:1346875]|Heterozygous|Homozygous null mice exhibit some perinatal lethality and survivors appear smaller. On certain genetic backgrounds, heterozygous X/Y mice may develop as phenotypic females or hermaphrodites. The sex-reversal phenotype is dependent on a combination of strain-specific autosomal and Y-linked alleles.|A|G|25|38.0|Non-synonymous|Alive
6565860|IGL01381|5|67349852|D->N|1.0|Probably damaging|MGI:1923690|Slc30a9|solute carrier family 30 (zinc transporter), member 9 [Source:MGI Symbol;Acc:MGI:1923690]|Heterozygous||G|A|22|40.0|Non-synonymous|Alive
6565861|IGL01381|5|73671113|E->G|1.0|Probably damaging|MGI:1920722|Spata18|spermatogenesis associated 18 [Source:MGI Symbol;Acc:MGI:1920722]|Heterozygous||A|G|22|37.5|Non-synonymous|Alive
6565862|IGL01381|1|24185328|D->G|||MGI:88465|Col9a1|collagen, type IX, alpha 1 [Source:MGI Symbol;Acc:MGI:88465]|Heterozygous|Homozygotes for a targeted mutation show no conspicuous skeletal abnormalities at birth but develop early-onset degenerative joint disease resembling osteoarthritis as well as progressive hearing loss; restoration and remodeling of trabecular bone is perturbed with minimal effects on cortical bone.|A|G|21|35.0|Non-synonymous|Alive
6565863|IGL01381|11|8492149|R->Q|0.94|Possibly damaging|MGI:2443012|Tns3|tensin 3 [Source:MGI Symbol;Acc:MGI:2443012]|Heterozygous|Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation.|C|T|19|37.0|Non-synonymous|Alive
6565864|IGL01381|3|108412499|T->M|1.0|Probably damaging|MGI:1858235|Celsr2|cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858235]|Heterozygous|Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.|G|A|19|38.0|Non-synonymous|Alive
6565865|IGL01381|14|41111142|D->G|0.34|Benign|MGI:88017|Mat1a|methionine adenosyltransferase I, alpha [Source:MGI Symbol;Acc:MGI:88017]|Heterozygous|Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.|A|G|18|37.0|Non-synonymous|Alive
6565866|IGL01381|17|25965486|W->Stop||N/A|MGI:1355075|Solh|small optic lobes homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1355075]|Heterozygous||C|T|17|37.0|Non-synonymous|Alive
6565867|IGL01381|2|167610344|T->I|1.0|Probably damaging|MGI:5141896, MGI:1913839|Ube2v1,gm20431|predicted gene 20431 [Source:MGI Symbol;Acc:MGI:5141896],ubiquitin-conjugating enzyme E2 variant 1 [Source:MGI Symbol;Acc:MGI:1913839]|Heterozygous||G|A|16|37.0|Non-synonymous|Alive
6565868|IGL01381|9|21116158|I->N|1.0|Probably damaging|MGI:1929470|Tyk2|tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:1929470]|Heterozygous|Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function.|A|T|16|35.5|Non-synonymous|Alive
6565869|IGL01381|10|57519842|E->G||Benign|MGI:1926228|Serinc1|serine incorporator 1 [Source:MGI Symbol;Acc:MGI:1926228]|Heterozygous||T|C|14|40.0|Non-synonymous|Alive
6565870|IGL01381|2|130048390|V->A|1.0|Probably damaging|MGI:98732|Tgm3|transglutaminase 3, E polypeptide [Source:MGI Symbol;Acc:MGI:98732]|Heterozygous|Mice homozygous for an ENU mutagenesis exhibit rough-looking, curly hair.|T|C|14|37.5|Non-synonymous|Alive
6565871|IGL01381|1|16643350|F->L|0.36|Benign|MGI:1915173|Tceb1|transcription elongation factor B (SIII), polypeptide 1 [Source:MGI Symbol;Acc:MGI:1915173]|Heterozygous||A|G|13|39.0|Non-synonymous|Alive
6565872|IGL01381|16|4616633|V->F|1.0|Probably damaging|MGI:1913699|Pam16|presequence translocase-asssociated motor 16 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913699]|Heterozygous||C|A|13|38.0|Non-synonymous|Alive
6565873|IGL01381|6|47963573|Y->D|0.15|Benign|MGI:2141515|Zfp956|zinc finger protein 956 [Source:MGI Symbol;Acc:MGI:2141515]|Heterozygous||T|G|13|38.0|Non-synonymous|Alive
6565874|IGL01381|11|70395087|V->I||Unknown|MGI:1922523|Pelp1|proline, glutamic acid and leucine rich protein 1 [Source:MGI Symbol;Acc:MGI:1922523]|Heterozygous||C|T|10|35.0|Non-synonymous|Alive
6565878|IGL01381|5|75575046|Disrupted splicing|||MGI:96677|Kit|kit oncogene [Source:MGI Symbol;Acc:MGI:96677]|Heterozygous|Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hemopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.|A|G|38|33.5|Splice|Alive
6565880|IGL01381|10|107653594|Disrupted splicing|||MGI:1096349|Ptprq|protein tyrosine phosphatase, receptor type, Q [Source:MGI Symbol;Acc:MGI:1096349]|Heterozygous|Homozygotes for targeted mutations show absence of shaft connectors from vestibular hair bundles, postnatal degeneration in cochlear hair-bundle structure, reduced transducer currents but otherwise normal adaptation properties, a progressive loss of basal-coil cochlear hair cells, and deafness.|A|G|10|37.0|Splice|Alive
6566489|IGL01382|17|18313316|L->Stop||N/A|MGI:3645591|Vmn2r93|vomeronasal 2, receptor 93 [Source:MGI Symbol;Acc:MGI:3645591]|Heterozygous||T|A|107|40.0|Non-synonymous|Alive
6566491|IGL01382|14|56379955|C->W|1.0|Probably damaging|MGI:1926943|Atp12a|ATPase, H+/K+ transporting, nongastric, alpha polypeptide [Source:MGI Symbol;Acc:MGI:1926943]|Heterozygous|Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type.|T|G|72|39.0|Non-synonymous|Alive
6566492|IGL01382|5|142472251|R->L|0.01|Benign|MGI:1924908|C330006k01rik|RIKEN cDNA C330006K01 gene [Source:MGI Symbol;Acc:MGI:1924908]|Heterozygous||G|T|56|35.0|Non-synonymous|Alive
6566493|IGL01382|6|57024723|D->V|1.0|Probably damaging|MGI:2159467|Vmn1r7|vomeronasal 1 receptor 7 [Source:MGI Symbol;Acc:MGI:2159467]|Heterozygous||T|A|56|39.0|Non-synonymous|Alive
6566494|IGL01382|1|92597200|Y->C|||MGI:3031245|Olfr1411|olfactory receptor 1411 [Source:MGI Symbol;Acc:MGI:3031245]|Heterozygous||A|G|55|39.0|Non-synonymous|Alive
6566495|IGL01382|13|100299856|E->K|0.83|Possibly damaging|MGI:1298222|Naip6|NLR family, apoptosis inhibitory protein 6 [Source:MGI Symbol;Acc:MGI:1298222]|Heterozygous||C|T|55|38.0|Non-synonymous|Alive
6566496|IGL01382|10|91166050|D->G|0.97|Probably damaging|MGI:106920|Tmpo|thymopoietin [Source:MGI Symbol;Acc:MGI:106920]|Heterozygous|Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon.|T|C|42|40.0|Non-synonymous|Alive
6566497|IGL01382|11|103498755|D->V|0.01|Benign|MGI:2685097|Lrrc37a|leucine rich repeat containing 37A [Source:MGI Symbol;Acc:MGI:2685097]|Heterozygous||T|A|42|40.0|Non-synonymous|Alive
6566498|IGL01382|1|17016156|T->A|0.94|Possibly damaging|MGI:1891495|Jph1|junctophilin 1 [Source:MGI Symbol;Acc:MGI:1891495]|Heterozygous|Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle.|T|C|34|39.0|Non-synonymous|Alive
6566499|IGL01382|10|79965272|L->P|1.0|Probably damaging|MGI:2158400|Wdr18|WD repeat domain 18 [Source:MGI Symbol;Acc:MGI:2158400]|Heterozygous||T|C|32|37.0|Non-synonymous|Alive
6566500|IGL01382|18|66859793|I->T|0.99|Probably damaging|MGI:99457|Mc4r|melanocortin 4 receptor [Source:MGI Symbol;Acc:MGI:99457]|Heterozygous|Mutations in this gene result in hyperglycemia and weight gain.|A|G|30|39.0|Non-synonymous|Alive
6566501|IGL01382|6|95122230|I->K|1.0|Probably damaging|MGI:2661430|Kbtbd8|kelch repeat and BTB (POZ) domain containing 8 [Source:MGI Symbol;Acc:MGI:2661430]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive
6566502|IGL01382|6|115960527|M->K|0.95|Possibly damaging|MGI:2154244|Plxnd1|plexin D1 [Source:MGI Symbol;Acc:MGI:2154244]|Heterozygous|Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels.|A|T|27|37.0|Non-synonymous|Alive
6566503|IGL01382|6|123786979|T->A|0.4|Benign|MGI:3647530|Vmn2r24|vomeronasal 2, receptor 24 [Source:MGI Symbol;Acc:MGI:3647530]|Heterozygous||A|G|27|39.0|Non-synonymous|Alive
6566504|IGL01382|1|86857203|D->G||Benign|MGI:2442555|Dis3l2|DIS3 mitotic control homolog (S. cerevisiae)-like 2 [Source:MGI Symbol;Acc:MGI:2442555]|Heterozygous||A|G|26|37.5|Non-synonymous|Alive
6566505|IGL01382|6|128325070|N->K|1.0|Probably damaging|MGI:1329045|Tulp3|tubby-like protein 3 [Source:MGI Symbol;Acc:MGI:1329045]|Heterozygous|Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos.|A|C|26|41.0|Non-synonymous|Alive
6566506|IGL01382|7|141530253|T->M|0.91|Possibly damaging|MGI:1915288|Chid1|chitinase domain containing 1 [Source:MGI Symbol;Acc:MGI:1915288]|Heterozygous||G|A|25|37.0|Non-synonymous|Alive
6566507|IGL01382|2|20855700|P->T|1.0|Probably damaging|MGI:1918685|Arhgap21|Rho GTPase activating protein 21 [Source:MGI Symbol;Acc:MGI:1918685]|Heterozygous||G|T|24|39.0|Non-synonymous|Alive
6566508|IGL01382|4|43940662|C->S|1.0|Probably damaging|MGI:1855698|Reck|reversion-inducing-cysteine-rich protein with kazal motifs [Source:MGI Symbol;Acc:MGI:1855698]|Heterozygous|Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development.|T|A|22|40.5|Non-synonymous|Alive
6566509|IGL01382|8|70078368|Y->C|1.0|Probably damaging|MGI:1933210|Tm6sf2|transmembrane 6 superfamily member 2 [Source:MGI Symbol;Acc:MGI:1933210]|Heterozygous||A|G|21|40.0|Non-synonymous|Alive
6566510|IGL01382|10|71376766|T->M|1.0|Probably damaging|MGI:1916968|Ipmk|inositol polyphosphate multikinase [Source:MGI Symbol;Acc:MGI:1916968]|Heterozygous|Homozygous null mice display embryonic lethality, reduced embryo size, delayed embryonic development, failure of chorioallantoic fusion and embryo turning, and a kinked and open neural tube.|C|T|20|39.5|Non-synonymous|Alive
6566511|IGL01382|14|52145477|T->I||Unknown|MGI:1932134|Rpgrip1|retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]|Heterozygous|Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.|C|T|19|35.0|Non-synonymous|Alive
6566512|IGL01382|5|112425621|V->I||Benign|MGI:1935121|Sez6l|seizure related 6 homolog like [Source:MGI Symbol;Acc:MGI:1935121]|Heterozygous|Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.|C|T|19|35.0|Non-synonymous|Alive
6566513|IGL01382|5|125055773|Q->L||Unknown|MGI:1337080|Ncor2|nuclear receptor co-repressor 2 [Source:MGI Symbol;Acc:MGI:1337080]|Heterozygous|Mice homozygous for a null allele die before E16.5 of heart defects and exhibit neural defects.|T|A|19|40.0|Non-synonymous|Alive
6566514|IGL01382|14|12237797|M->R|||MGI:97814|Ptprg|protein tyrosine phosphatase, receptor type, G [Source:MGI Symbol;Acc:MGI:97814]|Heterozygous||T|G|17|37.0|Non-synonymous|Alive
6566516|IGL01382|2|109296766|Y->Stop||N/A|MGI:2446977|Kif18a|kinesin family member 18A [Source:MGI Symbol;Acc:MGI:2446977]|Heterozygous||T|A|17|40.0|Non-synonymous|Alive
6566517|IGL01382|7|45422737|S->T||Benign|MGI:1342299|Ruvbl2|RuvB-like protein 2 [Source:MGI Symbol;Acc:MGI:1342299]|Heterozygous||A|T|17|37.0|Non-synonymous|Alive
6566518|IGL01382|16|76403572|H->Q||Benign|MGI:3708621|Gm9843|predicted gene 9843 [Source:MGI Symbol;Acc:MGI:3708621]|Heterozygous||A|T|16|35.0|Non-synonymous|Alive
6566519|IGL01382|11|94465858|T->S|0.97|Probably damaging|MGI:1201678|Cacna1g|calcium channel, voltage-dependent, T type, alpha 1G subunit [Source:MGI Symbol;Acc:MGI:1201678]|Heterozygous|Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity.|T|A|15|38.0|Non-synonymous|Alive
6566520|IGL01382|2|165359015|Y->F|1.0|Probably damaging|MGI:2685854|Zfp663|zinc finger protein 663 [Source:MGI Symbol;Acc:MGI:2685854]|Heterozygous||T|A|15|36.0|Non-synonymous|Alive
6566521|IGL01382|11|67301973|E->V|1.0|Probably damaging|MGI:1339712|Myh8|myosin, heavy polypeptide 8, skeletal muscle, perinatal [Source:MGI Symbol;Acc:MGI:1339712]|Heterozygous||A|T|14|39.5|Non-synonymous|Alive
6566522|IGL01382|5|107429719|E->G|1.0|Probably damaging|MGI:2686228|Ephx4|epoxide hydrolase 4 [Source:MGI Symbol;Acc:MGI:2686228]|Heterozygous||A|G|14|38.0|Non-synonymous|Alive
6566523|IGL01382|7|45588260|R->S|0.95|Possibly damaging|MGI:1276534|Bcat2|branched chain aminotransferase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:1276534]|Heterozygous|The metabolism of branched chain amino acid is impaired in homozyogous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet.|C|A|14|39.0|Non-synonymous|Alive
6566524|IGL01382|16|18544200|F->S|0.14|Benign|MGI:1338057|Gnb1l|guanine nucleotide binding protein (G protein), beta polypeptide 1-like [Source:MGI Symbol;Acc:MGI:1338057]|Heterozygous|Mice heterozygous for a gene trapped allele exhibit significantly reduced prepulse inhibition.|T|C|11|39.0|Non-synonymous|Alive
6566525|IGL01382|3|89188426|S->P|1.0|Probably damaging|MGI:1915771|Fam189b|family with sequence similarity 189, member B [Source:MGI Symbol;Acc:MGI:1915771]|Heterozygous||T|C|11|39.0|Non-synonymous|Alive
6566526|IGL01382|11|4068104|C->F|0.87|Possibly damaging|MGI:3617848|Sec14l3|SEC14-like 3 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:3617848]|Heterozygous||G|T|10|39.0|Non-synonymous|Alive
6566532|IGL01382|11|75438037|Disrupted splicing|||MGI:107173|Serpinf2|serine (or cysteine) peptidase inhibitor, clade F, member 2 [Source:MGI Symbol;Acc:MGI:107173]|Heterozygous|Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected.|C|T|50|38.0|Splice|Alive
6566533|IGL01382|11|6403781|Disrupted splicing|||MGI:106374|Zmiz2|zinc finger, MIZ-type containing 2 [Source:MGI Symbol;Acc:MGI:106374]|Heterozygous||T|A|21|40.0|Splice|Alive
6567129|IGL01383|16|59361953|N->K|0.48|Possibly damaging|MGI:3030043|Olfr209|olfactory receptor 209 [Source:MGI Symbol;Acc:MGI:3030043]|Heterozygous||A|T|137|39.0|Non-synonymous|Alive
6567130|IGL01383|18|37413275|H->L||Benign|MGI:2136745|Pcdhb10|protocadherin beta 10 [Source:MGI Symbol;Acc:MGI:2136745]|Heterozygous||A|T|131|37.0|Non-synonymous|Alive
6567131|IGL01383|12|65148989|N->S|0.01|Benign|MGI:2145099|Mis18bp1|MIS18 binding protein 1 [Source:MGI Symbol;Acc:MGI:2145099]|Heterozygous||T|C|110|38.0|Non-synonymous|Alive
6567132|IGL01383|17|20541121|V->A|||MGI:3646711|Vmn2r109|vomeronasal 2, receptor 109 [Source:MGI Symbol;Acc:MGI:3646711]|Heterozygous||A|G|88|38.0|Non-synonymous|Alive
6567133|IGL01383|17|23401601|L->F|1.0|Probably damaging|MGI:3646674|Vmn2r116|vomeronasal 2, receptor 116 [Source:MGI Symbol;Acc:MGI:3646674]|Heterozygous||C|T|88|38.0|Non-synonymous|Alive
6567134|IGL01383|6|18226041|N->K||Benign|MGI:88388|Cftr|cystic fibrosis transmembrane conductance regulator [Source:MGI Symbol;Acc:MGI:88388]|Heterozygous|Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.|C|A|64|40.0|Non-synonymous|Alive
6567135|IGL01383|11|94945525|R->H|1.0|Probably damaging|MGI:88467|Col1a1|collagen, type I, alpha 1 [Source:MGI Symbol;Acc:MGI:88467]|Heterozygous|Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, and aortic dissection.|G|A|61|38.0|Non-synonymous|Alive
6567136|IGL01383|6|129472640|T->A|1.0|Probably damaging|MGI:1861431|Clec7a|C-type lectin domain family 7, member a [Source:MGI Symbol;Acc:MGI:1861431]|Heterozygous|Mutations in this gene result in increased susceptibility and defective inflammatory responses in response to fungal infection.|T|C|57|39.0|Non-synonymous|Alive
6567137|IGL01383|10|119208167|T->S|1.0|Probably damaging|MGI:1261820|Cand1|cullin associated and neddylation disassociated 1 [Source:MGI Symbol;Acc:MGI:1261820]|Heterozygous||T|A|56|39.0|Non-synonymous|Alive
6567138|IGL01383|16|55911607|E->G|0.96|Probably damaging|MGI:1921451|Cep97|centrosomal protein 97 [Source:MGI Symbol;Acc:MGI:1921451]|Heterozygous||T|C|55|40.0|Non-synonymous|Alive
6567139|IGL01383|2|25296967|R->L|0.99|Probably damaging|MGI:95819|Grin1|glutamate receptor, ionotropic, NMDA1 (zeta 1) [Source:MGI Symbol;Acc:MGI:95819]|Heterozygous|Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology.|C|A|55|40.0|Non-synonymous|Alive
6567140|IGL01383|7|18480254|V->A|0.31|Benign|MGI:1891358|Psg26|pregnancy-specific glycoprotein 26 [Source:MGI Symbol;Acc:MGI:1891358]|Heterozygous||A|G|54|37.5|Non-synonymous|Alive
6567141|IGL01383|11|49471053|W->R||Benign|MGI:3031220|Olfr1386|olfactory receptor 1386 [Source:MGI Symbol;Acc:MGI:3031220]|Heterozygous||T|A|53|38.0|Non-synonymous|Alive
6567142|IGL01383|2|87782873|D->G|||MGI:1313139|Olfr152|olfactory receptor 152 [Source:MGI Symbol;Acc:MGI:1313139]|Heterozygous||A|G|47|39.0|Non-synonymous|Alive
6567143|IGL01383|X|105802075|D->G|0.99|Probably damaging|MGI:103067|Atrx|alpha thalassemia/mental retardation syndrome X-linked homolog (human) [Source:MGI Symbol;Acc:MGI:103067]|Heterozygous|Mice homozygous for a floxed allele activated in different tissues at different time points can serve as a model of alpha-thalassemia/mental retardation syndrome, nondeletion type, X-likned.|T|C|44|40.0|Non-synonymous|Alive
6567144|IGL01383|10|121576279|D->G|0.98|Probably damaging|MGI:1929658|Tbk1|TANK-binding kinase 1 [Source:MGI Symbol;Acc:MGI:1929658]|Heterozygous|Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS.|T|C|43|39.0|Non-synonymous|Alive
6567145|IGL01383|1|90960093|D->A|0.98|Probably damaging|MGI:104640|Rab17|RAB17, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:104640]|Heterozygous||T|G|42|35.0|Non-synonymous|Alive
6567146|IGL01383|5|24548294|N->K|0.1|Benign|MGI:3045319|4931409k22rik|RIKEN cDNA 4931409K22 gene [Source:MGI Symbol;Acc:MGI:3045319]|Heterozygous||A|T|41|38.0|Non-synonymous|Alive
6567147|IGL01383|4|62085959|Y->D|0.98|Probably damaging|MGI:97235|Mup3|major urinary protein 3 [Source:MGI Symbol;Acc:MGI:97235]|Heterozygous||A|C|39|40.0|Non-synonymous|Alive
6567148|IGL01383|15|78297043|S->G|0.79|Possibly damaging|MGI:1339760|Csf2rb2|colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) [Source:MGI Symbol;Acc:MGI:1339760]|Heterozygous|Homozygotes for a targeted null mutation are apparently normal.|T|C|36|38.5|Non-synonymous|Alive
6567149|IGL01383|17|32058578|F->L|0.95|Possibly damaging|MGI:1919712|Rrp1b|ribosomal RNA processing 1 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919712]|Heterozygous||T|C|28|36.0|Non-synonymous|Alive
6567150|IGL01383|8|10031528|F->S|0.34|Benign|MGI:1344376|Tnfsf13b|tumor necrosis factor (ligand) superfamily, member 13b [Source:MGI Symbol;Acc:MGI:1344376]|Heterozygous|Homozygous null mice have reduced number of B cells and reduced levels of immunoglobulins.|T|C|28|39.0|Non-synonymous|Alive
6567151|IGL01383|9|25482482|D->G|1.0|Probably damaging|MGI:1914734|Eepd1|endonuclease/exonuclease/phosphatase family domain containing 1 [Source:MGI Symbol;Acc:MGI:1914734]|Heterozygous||A|G|28|35.5|Non-synonymous|Alive
6567152|IGL01383|11|46469548|S->P|0.98|Probably damaging|MGI:2159682|Havcr2|hepatitis A virus cellular receptor 2 [Source:MGI Symbol;Acc:MGI:2159682]|Heterozygous||T|C|26|39.0|Non-synonymous|Alive
6567153|IGL01383|1|58294305|M->K|1.0|Probably damaging|MGI:3529596|Aox3l1|aldehyde oxidase 3-like 1 [Source:MGI Symbol;Acc:MGI:3529596]|Heterozygous||T|A|24|39.5|Non-synonymous|Alive
6567154|IGL01383|10|63135797|N->K|1.0|Probably damaging|MGI:1916052|Mypn|myopalladin [Source:MGI Symbol;Acc:MGI:1916052]|Heterozygous||G|T|22|37.5|Non-synonymous|Alive
6567155|IGL01383|11|117714257|S->P|0.64|Possibly damaging|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||T|C|22|36.5|Non-synonymous|Alive
6567156|IGL01383|6|132599878|P->T|||MGI:1932491|Prp2|proline rich protein 2 [Source:MGI Symbol;Acc:MGI:1932491]|Heterozygous||C|A|21|39.0|Non-synonymous|Alive
6567157|IGL01383|7|45939700|S->P|0.99|Probably damaging|MGI:2446120|Ccdc114|coiled-coil domain containing 114 [Source:MGI Symbol;Acc:MGI:2446120]|Heterozygous||T|C|19|37.0|Non-synonymous|Alive
6567158|IGL01383|9|63146556|T->S|0.09|Benign|MGI:2443473|Skor1|SKI family transcriptional corepressor 1 [Source:MGI Symbol;Acc:MGI:2443473]|Heterozygous||T|A|18|34.0|Non-synonymous|Alive
6567160|IGL01383|7|27657999|V->M|0.09|Benign|MGI:1346879|Map3k10|mitogen-activated protein kinase kinase kinase 10 [Source:MGI Symbol;Acc:MGI:1346879]|Heterozygous|Mice homozygous for a null allele exhibit normal development, reproduction and lifespan.|C|T|17|35.0|Non-synonymous|Alive
6567161|IGL01383|7|125699500|I->T|1.0|Probably damaging|MGI:107887|Gtf3c1|general transcription factor III C 1 [Source:MGI Symbol;Acc:MGI:107887]|Heterozygous||A|G|17|37.0|Non-synonymous|Alive
6567162|IGL01383|5|122237703|V->A|0.15|Benign|MGI:1921346|Hvcn1|hydrogen voltage-gated channel 1 [Source:MGI Symbol;Acc:MGI:1921346]|Heterozygous|Mice homozygous for a gene trap allele lack neutrophil and macrophage voltage-gated proton pumps.|T|C|16|36.5|Non-synonymous|Alive
6567163|IGL01383|8|54550509|L->H|0.98|Probably damaging|MGI:1923544|Asb5|ankyrin repeat and SOCs box-containing 5 [Source:MGI Symbol;Acc:MGI:1923544]|Heterozygous||T|A|16|37.0|Non-synonymous|Alive
6567164|IGL01383|7|102534933|Y->C|0.03|Benign|MGI:3030381|Olfr547|olfactory receptor 547 [Source:MGI Symbol;Acc:MGI:3030381]|Heterozygous||A|G|15|35.0|Non-synonymous|Alive
6567166|IGL01383|11|110113293|Disrupted splicing|||MGI:2386796|Abca9|ATP-binding cassette, sub-family A (ABC1), member 9 [Source:MGI Symbol;Acc:MGI:2386796]|Heterozygous||A|C|69|39.0|Splice|Alive
6567167|IGL01383|14|5051570|Disrupted splicing|||MGI:1922055|4930555g01rik|RIKEN cDNA 4930555G01 gene [Source:MGI Symbol;Acc:MGI:1922055]|Heterozygous||C|A|47|39.0|Splice|Alive
6567168|IGL01383|4|143846532|Disrupted splicing|||MGI:3650203|Gm13103|predicted gene 13103 [Source:MGI Symbol;Acc:MGI:3650203]|Heterozygous||T|G|34|37.0|Splice|Alive
6567169|IGL01383|X|21068486|Disrupted splicing|||MGI:2685564|Spaca5|sperm acrosome associated 5 [Source:MGI Symbol;Acc:MGI:2685564]|Heterozygous||T|C|28|38.0|Splice|Alive
6567170|IGL01383|8|107533291|Disrupted splicing|||MGI:1914144|Wwp2|WW domain containing E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:1914144]|Heterozygous||T|A|27|37.0|Splice|Alive
6567171|IGL01383|1|191055381|Disrupted splicing|||MGI:1916222|Tatdn3|TatD DNase domain containing 3 [Source:MGI Symbol;Acc:MGI:1916222]|Heterozygous||G|A|21|38.0|Splice|Alive
6567798|IGL01384|3|15548729|N->Y|1.0|Probably damaging|MGI:3779828|Sirpb1b|signal-regulatory protein beta 1B [Source:MGI Symbol;Acc:MGI:3779828]|Heterozygous||T|A|140|37.0|Non-synonymous|Alive
6567799|IGL01384|10|121084950|T->S||Benign|MGI:1344332|Wif1|Wnt inhibitory factor 1 [Source:MGI Symbol;Acc:MGI:1344332]|Heterozygous|Homozygous null mice are viable and fertile but display increased susceptibility to spontaneous and induced osteosarcomas.|A|T|101|35.0|Non-synonymous|Alive
6567800|IGL01384|6|66716462|I->N|0.62|Possibly damaging|MGI:2159443|Vmn1r36|vomeronasal 1 receptor 36 [Source:MGI Symbol;Acc:MGI:2159443]|Heterozygous||A|T|72|39.0|Non-synonymous|Alive
6567801|IGL01384|5|129097209|S->P|0.45|Possibly damaging|MGI:3041203|Gpr133|G protein-coupled receptor 133 [Source:MGI Symbol;Acc:MGI:3041203]|Heterozygous||T|C|52|38.5|Non-synonymous|Alive
6567802|IGL01384|12|11255241|I->M||Benign|MGI:2443149|Gen1|Gen homolog 1, endonuclease (Drosophila) [Source:MGI Symbol;Acc:MGI:2443149]|Heterozygous||T|C|47|38.0|Non-synonymous|Alive
6567803|IGL01384|9|38109562|I->N|0.98|Probably damaging|MGI:3030722|Olfr888|olfactory receptor 888 [Source:MGI Symbol;Acc:MGI:3030722]|Heterozygous||T|A|45|40.0|Non-synonymous|Alive
6567804|IGL01384|18|62522416|S->P|0.92|Possibly damaging|MGI:2444639|Fbxo38|F-box protein 38 [Source:MGI Symbol;Acc:MGI:2444639]|Heterozygous||A|G|42|39.5|Non-synonymous|Alive
6567805|IGL01384|17|6956883|D->G|0.02|Benign|MGI:1919786|Tagap1|T cell activation GTPase activating protein 1 [Source:MGI Symbol;Acc:MGI:1919786]|Heterozygous||T|C|40|37.0|Non-synonymous|Alive
6567806|IGL01384|7|141846818|I->F|1.0|Probably damaging|MGI:1921430|Muc5b|mucin 5, subtype B, tracheobronchial [Source:MGI Symbol;Acc:MGI:1921430]|Heterozygous||A|T|39|40.0|Non-synonymous|Alive
6567807|IGL01384|1|10116680|R->H|0.99|Probably damaging|MGI:2681832|Cspp1|centrosome and spindle pole associated protein 1 [Source:MGI Symbol;Acc:MGI:2681832]|Heterozygous||G|A|32|35.0|Non-synonymous|Alive
6567808|IGL01384|7|110926501|V->A|||MGI:1338023|Mrvi1|MRV integration site 1 [Source:MGI Symbol;Acc:MGI:1338023]|Heterozygous|Mice homozygous for a knock-out allele show lower blood pressure, a slightly reduced heart rate, and failure of cGMP-mediated relaxation of receptor-triggered smooth muscle contraction; 50% of mice die prematurely with an enlarged stomach, a dilated cecum, pyloric stenosis and impaired GI motility.|A|G|32|37.5|Non-synonymous|Alive
6567809|IGL01384|4|138743701|K->R|1.0|Probably damaging|MGI:106638|Pla2g2c|phospholipase A2, group IIC [Source:MGI Symbol;Acc:MGI:106638]|Heterozygous||A|G|31|39.0|Non-synonymous|Alive
6567810|IGL01384|19|39812583|M->K|0.12|Benign|MGI:1306815|Cyp2c40|cytochrome P450, family 2, subfamily c, polypeptide 40 [Source:MGI Symbol;Acc:MGI:1306815]|Heterozygous||A|T|28|39.0|Non-synonymous|Alive
6567811|IGL01384|9|49509852|I->N|0.62|Possibly damaging|MGI:97281|Ncam1|neural cell adhesion molecule 1 [Source:MGI Symbol;Acc:MGI:97281]|Heterozygous|Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions.|A|T|28|37.0|Non-synonymous|Alive
6567812|IGL01384|1|44126747|I->S|0.96|Probably damaging|MGI:2179809|Bivm|basic, immunoglobulin-like variable motif containing [Source:MGI Symbol;Acc:MGI:2179809]|Heterozygous||T|G|26|39.0|Non-synonymous|Alive
6567813|IGL01384|16|34938952|A->S||Benign|MGI:894806|Mylk|myosin, light polypeptide kinase [Source:MGI Symbol;Acc:MGI:894806]|Heterozygous|Mice that lack the isoform abundant in endothelial cells and retain the isoform that is predominant in smooth muscle show a reduced susceptibility to acute lung injury.|G|T|26|36.0|Non-synonymous|Alive
6567814|IGL01384|7|24510742|D->G|0.99|Probably damaging|MGI:1916463|Zfp428|zinc finger protein 428 [Source:MGI Symbol;Acc:MGI:1916463]|Heterozygous||A|G|26|35.0|Non-synonymous|Alive
6567815|IGL01384|11|5628348|H->N||Unknown|MGI:1923639|Ankrd36|ankyrin repeat domain 36 [Source:MGI Symbol;Acc:MGI:1923639]|Heterozygous||C|A|25|37.0|Non-synonymous|Alive
6567816|IGL01384|14|31150408|V->A|||MGI:2178742|Stab1|stabilin 1 [Source:MGI Symbol;Acc:MGI:2178742]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|A|G|25|38.0|Non-synonymous|Alive
6567817|IGL01384|18|13843923|N->K|0.8|Possibly damaging|MGI:95459|Zfp521|zinc finger protein 521 [Source:MGI Symbol;Acc:MGI:95459]|Heterozygous|Mice homozygous for a conditional allele activated in chondrocytes exhibit postnatal growth retardation, dwarfism, premature bone mineralization, reduced chondrocyte proliferation, and increased chondrocyte apoptosis.|A|T|24|38.5|Non-synonymous|Alive
6567818|IGL01384|6|123127988|K->T|1.0|Probably damaging|MGI:1349412|Clec4a2|C-type lectin domain family 4, member a2 [Source:MGI Symbol;Acc:MGI:1349412]|Heterozygous||A|C|23|40.0|Non-synonymous|Alive
6567819|IGL01384|11|29503915|D->Y|0.68|Possibly damaging|MGI:1925177|Ccdc88a|coiled coil domain containing 88A [Source:MGI Symbol;Acc:MGI:1925177]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal weight loss, reduced angiogenesis, and premature death by P25.|G|T|21|38.0|Non-synonymous|Alive
6567820|IGL01384|17|3427202|F->I|0.74|Possibly damaging|MGI:1344338|Tiam2|T cell lymphoma invasion and metastasis 2 [Source:MGI Symbol;Acc:MGI:1344338]|Heterozygous||T|A|20|37.0|Non-synonymous|Alive
6567822|IGL01384|2|69483502|D->V|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|T|A|20|38.0|Non-synonymous|Alive
6567823|IGL01384|4|41498151|A->E|1.0|Probably damaging|MGI:2140300|Ai464131|expressed sequence AI464131 [Source:MGI Symbol;Acc:MGI:2140300]|Heterozygous||G|T|20|35.0|Non-synonymous|Alive
6567824|IGL01384|1|188553228|D->V|1.0|Probably damaging|MGI:1341292|Ush2a|Usher syndrome 2A (autosomal recessive, mild) [Source:MGI Symbol;Acc:MGI:1341292]|Heterozygous|Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.|A|T|19|38.0|Non-synonymous|Alive
6567825|IGL01384|18|62184018|D->V||Unknown|MGI:3647947|Gm9949|predicted gene 9949 [Source:MGI Symbol;Acc:MGI:3647947]|Heterozygous||A|T|18|40.5|Non-synonymous|Alive
6567826|IGL01384|2|69453812|D->G|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|T|C|18|39.5|Non-synonymous|Alive
6567827|IGL01384|12|31320931|M->K||Benign|MGI:96743|Lamb1|laminin B1 [Source:MGI Symbol;Acc:MGI:96743]|Heterozygous|Embryos homozygous for a gene trapped allele lack basement membranes and fail to survive past E5.5. The mutant embryonic region shows no signs of cavitation, the mural trophectoderm and parietal endoderm appear disorganized, and trophoblast invasion is greatly reduced.|T|A|16|37.5|Non-synonymous|Alive
6567828|IGL01384|2|68745405|R->G|0.82|Possibly damaging|MGI:1922971|4932414n04rik|RIKEN cDNA 4932414N04 gene [Source:MGI Symbol;Acc:MGI:1922971]|Heterozygous||A|G|16|39.0|Non-synonymous|Alive
6567829|IGL01384|18|49857334|D->G|||MGI:2443926|Dmxl1|Dmx-like 1 [Source:MGI Symbol;Acc:MGI:2443926]|Heterozygous||A|G|15|39.0|Non-synonymous|Alive
6567830|IGL01384|8|91273640|I->N||Benign|MGI:1920563|Rpgrip1l|Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563]|Heterozygous|Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion.|A|T|15|40.0|Non-synonymous|Alive
6567831|IGL01384|8|13179629|V->E|0.89|Possibly damaging|MGI:1914040|Grtp1|GH regulated TBC protein 1 [Source:MGI Symbol;Acc:MGI:1914040]|Heterozygous||A|T|13|35.0|Non-synonymous|Alive
6567832|IGL01384|14|54971459|L->Q|0.99|Probably damaging|MGI:2155600, MGI:3642848|Myh7,d830015g02rik|Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q8BWC8],myosin, heavy polypeptide 7, cardiac muscle, beta [Source:MGI Symbol;Acc:MGI:2155600]|Heterozygous||A|T|12|35.0|Non-synonymous|Alive
6567833|IGL01384|4|148018966|R->C|1.0|Probably damaging|MGI:1347049|Clcn6|chloride channel 6 [Source:MGI Symbol;Acc:MGI:1347049]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired nociception, mild behavioral abnormalities, and a progressive neuropathy of the central and peripheral nervous systems with features of neuronal ceroid lipofuscinosis (a lysosomal storage disease).|G|A|12|38.0|Non-synonymous|Alive
6567834|IGL01384|11|110145637|S->P|1.0|Probably damaging|MGI:2386796|Abca9|ATP-binding cassette, sub-family A (ABC1), member 9 [Source:MGI Symbol;Acc:MGI:2386796]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive
6567837|IGL01384|6|121849474|Disrupted splicing|||MGI:99837|Mug1|murinoglobulin 1 [Source:MGI Symbol;Acc:MGI:99837]|Heterozygous|Mice homozygous for a knock-out allele are viable, fertile and phenotypically normal under standard conditions but show increased mortality in response to diet-induced acute pancreatitis along with hepatic cell necrosis and inflammatory infiltration, and increased plasma amylase and lipase levels.|A|C|80|39.0|Splice|Alive
6567838|IGL01384|13|63190476|Disrupted splicing|||MGI:1919311|2010111i01rik|RIKEN cDNA 2010111I01 gene [Source:MGI Symbol;Acc:MGI:1919311]|Heterozygous|Mice homozygous for one gene trapped allele are phenotypically normal.|C|T|19|39.0|Splice|Alive
6568455|IGL01385|16|16341453|E->V|1.0|Probably damaging|MGI:1921256|Dnm1l|dynamin 1-like [Source:MGI Symbol;Acc:MGI:1921256]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5.|T|A|83|40.0|Non-synonymous|Alive
6568456|IGL01385|18|3122770|Q->K|0.02|Benign|MGI:3852494|Vmn1r238|vomeronasal 1 receptor, 238 [Source:MGI Symbol;Acc:MGI:3852494]|Heterozygous||G|T|81|40.0|Non-synonymous|Alive
6568457|IGL01385|4|118893551|L->S||Benign|MGI:3031164|Olfr1330|olfactory receptor 1330 [Source:MGI Symbol;Acc:MGI:3031164]|Heterozygous||T|C|81|39.0|Non-synonymous|Alive
6568458|IGL01385|1|177741074|G->R|0.04|Benign|MGI:1916678|1700016c15rik|RIKEN cDNA 1700016C15 gene [Source:MGI Symbol;Acc:MGI:1916678]|Heterozygous||G|A|57|40.0|Non-synonymous|Alive
6568459|IGL01385|18|37322214|V->E|0.78|Possibly damaging|MGI:2136739|Pcdhb5|protocadherin beta 5 [Source:MGI Symbol;Acc:MGI:2136739]|Heterozygous||T|A|52|33.5|Non-synonymous|Alive
6568460|IGL01385|7|129607913|M->V|||MGI:1932404|Wdr11|WD repeat domain 11 [Source:MGI Symbol;Acc:MGI:1920230]|Heterozygous||A|G|41|31.0|Non-synonymous|Alive
6568461|IGL01385|7|29056985|V->D|0.99|Probably damaging|MGI:99659|Ryr1|ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]|Heterozygous|Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally.|A|T|40|39.0|Non-synonymous|Alive
6568462|IGL01385|2|67509677|L->P|1.0|Probably damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||T|C|37|40.0|Non-synonymous|Alive
6568463|IGL01385|11|43234429|E->G|1.0|Probably damaging|MGI:2442688|Atp10b|ATPase, class V, type 10B [Source:MGI Symbol;Acc:MGI:2442688]|Heterozygous||A|G|34|38.0|Non-synonymous|Alive
6568464|IGL01385|13|95701328|I->L||Benign|MGI:2449975, MGI:1298208|F2rl2,iqgap2|IQ motif containing GTPase activating protein 2 [Source:MGI Symbol;Acc:MGI:2449975],coagulation factor II (thrombin) receptor-like 2 [Source:MGI Symbol;Acc:MGI:1298208]|Heterozygous|Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.,Homozygous mutation of this gene results in prolonged bleeding times, delayed and reduced thrombin responses in platelets, and protection against thrombosis.|A|C|33|39.0|Non-synonymous|Alive
6568465|IGL01385|11|107978352|V->A|1.0|Probably damaging|MGI:97595|Prkca|protein kinase C, alpha [Source:MGI Symbol;Acc:MGI:97595]|Heterozygous|Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure.|A|G|30|38.5|Non-synonymous|Alive
6568466|IGL01385|11|90540248|V->A|0.7|Possibly damaging|MGI:1342296|Stxbp4|syntaxin binding protein 4 [Source:MGI Symbol;Acc:MGI:1342296]|Heterozygous||A|G|28|39.0|Non-synonymous|Alive
6568467|IGL01385|13|113216682|E->A|0.96|Probably damaging|MGI:1918940|Esm1|endothelial cell-specific molecule 1 [Source:MGI Symbol;Acc:MGI:1918940]|Heterozygous||A|C|27|35.0|Non-synonymous|Alive
6568468|IGL01385|10|106913699|S->G|0.99|Probably damaging|MGI:2443834|Ppfia2|protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 [Source:MGI Symbol;Acc:MGI:2443834]|Heterozygous||A|G|26|38.0|Non-synonymous|Alive
6568469|IGL01385|4|127124106|G->S||Benign|MGI:106505|Zmym6|zinc finger, MYM-type 6 [Source:MGI Symbol;Acc:MGI:106505]|Heterozygous||G|A|26|39.0|Non-synonymous|Alive
6568470|IGL01385|10|7752810|C->R|1.0|Probably damaging|MGI:1344353|Katna1|katanin p60 (ATPase-containing) subunit A1 [Source:MGI Symbol;Acc:MGI:1344353]|Heterozygous||T|C|25|39.0|Non-synonymous|Alive
6568471|IGL01385|14|121580583|Y->H|||MGI:106321|Dock9|dedicator of cytokinesis 9 [Source:MGI Symbol;Acc:MGI:106321]|Heterozygous||A|G|19|36.0|Non-synonymous|Alive
6568472|IGL01385|18|58972779|T->A|0.97|Probably damaging|MGI:2442875|Adamts19|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19 [Source:MGI Symbol;Acc:MGI:2442875]|Heterozygous||A|G|19|39.0|Non-synonymous|Alive
6568473|IGL01385|19|6957908|D->E|0.02|Benign|MGI:104778|Plcb3|phospholipase C, beta 3 [Source:MGI Symbol;Acc:MGI:104778]|Heterozygous|Mice homozygous for one targeted mutation die at E2.5 and exhibit poor embryonic organization and hypocellularity. Mice homozygous for a second targeted mutation survive to adulthood and exhibit an increased antinocieptive response to opioids.|A|T|19|35.0|Non-synonymous|Alive
6568474|IGL01385|2|27464089|T->A|0.79|Possibly damaging|MGI:1914632|Brd3|bromodomain containing 3 [Source:MGI Symbol;Acc:MGI:1914632]|Heterozygous||T|C|19|37.0|Non-synonymous|Alive
6568475|IGL01385|7|16564474|N->I|0.99|Probably damaging|MGI:1929494|Grlf1|glucocorticoid receptor DNA binding factor 1 [Source:MGI Symbol;Acc:MGI:1929494]|Heterozygous|Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Abnormalities are seen in the retina and in the development of the brain and nervous system.|T|A|18|39.0|Non-synonymous|Alive
6568476|IGL01385|9|105783666|S->P|0.04|Benign|MGI:2444259|Col6a6|collagen, type VI, alpha 6 [Source:MGI Symbol;Acc:MGI:2444259]|Heterozygous||A|G|18|37.0|Non-synonymous|Alive
6568477|IGL01385|13|59601066|E->K|1.0|Probably damaging|MGI:1925939|Naa35|N(alpha)-acetyltransferase 35, NatC auxiliary subunit [Source:MGI Symbol;Acc:MGI:1925939]|Heterozygous||G|A|17|39.0|Non-synonymous|Alive
6568478|IGL01385|2|49250221|C->S|0.87|Possibly damaging|MGI:2138934|Mbd5|methyl-CpG binding domain protein 5 [Source:MGI Symbol;Acc:MGI:2138934]|Heterozygous||T|A|17|37.0|Non-synonymous|Alive
6568479|IGL01385|10|127087996|I->F|0.03|Benign|MGI:3580016|Agap2|ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 [Source:MGI Symbol;Acc:MGI:3580016]|Heterozygous||A|T|16|37.5|Non-synonymous|Alive
6568480|IGL01385|19|57068914|S->R|1.0|Probably damaging|MGI:1194500|Ablim1|actin-binding LIM protein 1 [Source:MGI Symbol;Acc:MGI:1194500]|Heterozygous|Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.|A|T|13|37.0|Non-synonymous|Alive
6568481|IGL01385|6|39523136|V->A|0.66|Possibly damaging|MGI:2444961|Dennd2a|DENN/MADD domain containing 2A [Source:MGI Symbol;Acc:MGI:2444961]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive
6568482|IGL01385|10|75774988|I->T|0.12|Benign|MGI:5141906, MGI:2143526|Gstt3,gm20441|glutathione S-transferase, theta 3 [Source:MGI Symbol;Acc:MGI:2143526],predicted gene 20441 [Source:MGI Symbol;Acc:MGI:5141906]|Heterozygous||A|G|10|38.5|Non-synonymous|Alive
6568483|IGL01385|12|72573746|L->P|1.0|Probably damaging|MGI:1914958|Pcnxl4|pecanex-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1914958]|Heterozygous||T|C|10|39.0|Non-synonymous|Alive
6568484|IGL01385|2|180137080|N->S|0.06|Benign|MGI:2442832|Osbpl2|oxysterol binding protein-like 2 [Source:MGI Symbol;Acc:MGI:2442832]|Heterozygous||A|G|10|40.0|Non-synonymous|Alive
6568488|IGL01385|9|74179506|Disrupted splicing|||MGI:3583957|Wdr72|WD repeat domain 72 [Source:MGI Symbol;Acc:MGI:3583957]|Heterozygous||T|C|20|40.0|Splice|Alive
6568489|IGL01385|9|59630612|Disrupted splicing|||MGI:1914537|Parp6|poly (ADP-ribose) polymerase family, member 6 [Source:MGI Symbol;Acc:MGI:1914537]|Heterozygous||T|C|13|37.0|Splice|Alive
6569072|IGL01386|9|107534660|T->I|1.0|Probably damaging|MGI:1930765|Tmem115|transmembrane protein 115 [Source:MGI Symbol;Acc:MGI:1930765]|Heterozygous||C|T|98|37.0|Non-synonymous|Alive
6569073|IGL01386|2|91036799|A->S|0.62|Possibly damaging|MGI:99422|Rapsn|receptor-associated protein of the synapse [Source:MGI Symbol;Acc:MGI:99422]|Heterozygous|Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth.|G|T|85|38.0|Non-synonymous|Alive
6569074|IGL01386|6|58472602|T->A|||MGI:3649162|Vmn1r31|vomeronasal 1 receptor 31 [Source:MGI Symbol;Acc:MGI:3649162]|Heterozygous||T|C|85|38.0|Non-synonymous|Alive
6569075|IGL01386|5|145440434|F->L|0.92|Possibly damaging|MGI:106099|Cyp3a16|cytochrome P450, family 3, subfamily a, polypeptide 16 [Source:MGI Symbol;Acc:MGI:106099]|Heterozygous||A|G|82|39.0|Non-synonymous|Alive
6569076|IGL01386|17|20114192|S->L|0.87|Possibly damaging|MGI:2448177|Fpr-rs7|formyl peptide receptor, related sequence 7 [Source:MGI Symbol;Acc:MGI:2448177]|Heterozygous||G|A|58|40.0|Non-synonymous|Alive
6569077|IGL01386|7|103338767|K->Stop||N/A|MGI:3030433|Olfr599|olfactory receptor 599 [Source:MGI Symbol;Acc:MGI:3030433]|Heterozygous||A|T|57|39.0|Non-synonymous|Alive
6569078|IGL01386|17|22956050|E->G|0.97|Probably damaging|MGI:3648972|Vmn2r113|vomeronasal 2, receptor 113 [Source:MGI Symbol;Acc:MGI:3648972]|Heterozygous||A|G|55|39.0|Non-synonymous|Alive
6569079|IGL01386|11|105886381|F->S|1.0|Probably damaging|MGI:2444121|Tanc2|tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Source:MGI Symbol;Acc:MGI:2444121]|Heterozygous|Mice homozygous for a gene trap vector die prior to E12.|T|C|54|38.5|Non-synonymous|Alive
6569080|IGL01386|15|89107996|Y->Stop||N/A|MGI:2146071|Tubgcp6|tubulin, gamma complex associated protein 6 [Source:MGI Symbol;Acc:MGI:2146071]|Heterozygous||A|T|54|38.0|Non-synonymous|Alive
6569081|IGL01386|12|80193672|R->G|0.12|Benign|MGI:2137706|Actn1|actinin, alpha 1 [Source:MGI Symbol;Acc:MGI:2137706]|Heterozygous||T|C|50|38.5|Non-synonymous|Alive
6569082|IGL01386|9|92606602|R->Q|0.46|Possibly damaging|MGI:1347007|Plod2|procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 [Source:MGI Symbol;Acc:MGI:1347007]|Heterozygous||G|A|46|39.5|Non-synonymous|Alive
6569083|IGL01386|1|154472377|K->N|||MGI:106217|Cacna1e|calcium channel, voltage-dependent, R type, alpha 1E subunit [Source:MGI Symbol;Acc:MGI:106217]|Heterozygous|Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.|T|A|42|38.0|Non-synonymous|Alive
6569084|IGL01386|6|90346765|A->V|0.96|Probably damaging|MGI:2385332|Uroc1|urocanase domain containing 1 [Source:MGI Symbol;Acc:MGI:2385332]|Heterozygous||C|T|41|37.0|Non-synonymous|Alive
6569085|IGL01386|8|24438689|I->F|0.24|Benign|MGI:1916318|1810011o10rik|RIKEN cDNA 1810011O10 gene [Source:MGI Symbol;Acc:MGI:1916318]|Heterozygous||T|A|39|37.0|Non-synonymous|Alive
6569086|IGL01386|6|70892726|T->M|1.0|Probably damaging|MGI:1341830|Eif2ak3|eukaryotic translation initiation factor 2 alpha kinase 3 [Source:MGI Symbol;Acc:MGI:1341830]|Heterozygous|Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half die before weaning.|C|T|38|36.5|Non-synonymous|Alive
6569087|IGL01386|3|40692587|D->V|1.0|Probably damaging|MGI:2443752|Intu|inturned planar cell polarity effector homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443752]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal neural tube development, polydactyly, and die by E16.5.|A|T|37|39.0|Non-synonymous|Alive
6569088|IGL01386|7|81164679|A->S||Benign|MGI:3605073|Slc28a1|solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 [Source:MGI Symbol;Acc:MGI:3605073]|Heterozygous||G|T|33|38.0|Non-synonymous|Alive
6569089|IGL01386|1|68343931|S->R|1.0|Probably damaging|MGI:104771|Erbb4|v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:MGI Symbol;Acc:MGI:104771]|Heterozygous|Homozygotes for a targeted null mutation exhibit cardiac defects, alterations in hindbrain development, and midgestational lethality. Heterozygotes show schizophrenia-like behavior. Genetically rescued females show mammary defects.|A|T|28|38.5|Non-synonymous|Alive
6569090|IGL01386|2|148407682|Q->Stop||N/A|MGI:98736|Thbd|thrombomodulin [Source:MGI Symbol;Acc:MGI:98736]|Heterozygous|Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses.|G|A|28|35.0|Non-synonymous|Alive
6569091|IGL01386|6|72518962|T->S|0.22|Benign|MGI:1918380|Sh2d6|SH2 domain containing 6 [Source:MGI Symbol;Acc:MGI:1918380]|Heterozygous||T|A|26|38.0|Non-synonymous|Alive
6569093|IGL01386|14|55786027|Q->P|||MGI:2154952|Ripk3|receptor-interacting serine-threonine kinase 3 [Source:MGI Symbol;Acc:MGI:2154952]|Heterozygous|Mice homozygous for a knock-out allele exhibit resistance to cerulein-induced pancreatitis.|T|G|25|39.0|Non-synonymous|Alive
6569094|IGL01386|19|4963381|K->T|1.0|Probably damaging|MGI:2137215|Mrpl11|mitochondrial ribosomal protein L11 [Source:MGI Symbol;Acc:MGI:2137215]|Heterozygous||A|C|24|39.0|Non-synonymous|Alive
6569095|IGL01386|10|39011064|I->V||Benign|MGI:109321|Lama4|laminin, alpha 4 [Source:MGI Symbol;Acc:MGI:109321]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired motor control of the hind limbs associated with improperly positioned synaptic active zones and junctional folds, and prenatal and neonatal hemorrhages associated with capillary defects.|A|G|22|36.0|Non-synonymous|Alive
6569096|IGL01386|10|88139986|Y->Stop||N/A|MGI:1922567|Parpbp|PARP1 binding protein [Source:MGI Symbol;Acc:MGI:1922567]|Heterozygous||A|C|21|40.0|Non-synonymous|Alive
6569098|IGL01386|8|71684289|D->G|1.0|Probably damaging|MGI:99928|Jak3|Janus kinase 3 [Source:MGI Symbol;Acc:MGI:99928]|Heterozygous|Homozygous null mutants exhibit a severe B cell development block. Mutants have small thymi, and in response to mitogenic signals their peripheral T cells fail to proliferate and secrete only small amounts of IL-2. Point mutation homozygotes develop autoimmune inflammatory bowel disease.|A|G|18|39.0|Non-synonymous|Alive
6569099|IGL01386|17|24613285|V->E|0.89|Possibly damaging|MGI:102548|Tsc2|tuberous sclerosis 2 [Source:MGI Symbol;Acc:MGI:102548]|Heterozygous|Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas.|A|T|17|37.0|Non-synonymous|Alive
6569100|IGL01386|15|96420480|D->G|1.0|Probably damaging|MGI:1919443|Scaf11|SR-related CTD-associated factor 11 [Source:MGI Symbol;Acc:MGI:1919443]|Heterozygous||T|C|15|40.0|Non-synonymous|Alive
6569101|IGL01386|7|6304870|H->R||Benign|MGI:2442757|Zfp667|zinc finger protein 667 [Source:MGI Symbol;Acc:MGI:2442757]|Heterozygous||A|G|15|39.0|Non-synonymous|Alive
6569102|IGL01386|11|49637335|A->D||Benign|MGI:95561|Flt4|FMS-like tyrosine kinase 4 [Source:MGI Symbol;Acc:MGI:95561]|Heterozygous|Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphatic vessels, and lymphedema.|C|A|14|37.5|Non-synonymous|Alive
6569103|IGL01386|1|79801551|T->I|1.0|Probably damaging|MGI:101780|Serpine2|serine (or cysteine) peptidase inhibitor, clade E, member 2 [Source:MGI Symbol;Acc:MGI:101780]|Heterozygous|Mice homozygous for a targeted mutation of this gene are viable and healthy but develop epileptic activity as well as reduced theta burst-induced LTP and NMDA receptor-mediated synaptic transmission in the CA1 field of the hippocampus; notably, homozygous mutant males are infertile.|G|A|11|41.0|Non-synonymous|Alive
6569104|IGL01386|19|16701152|V->A|0.33|Benign|MGI:2444304|Vps13a|vacuolar protein sorting 13A (yeast) [Source:MGI Symbol;Acc:MGI:2444304]|Heterozygous|Aging mice homozygous for a knock-out allele display motor dysfunction and abnormal social interaction, hematologic anomalies including acanthocytosis, selective atrophy of the striatum with significant apoptosis and gliosis, and reduced homovanillic acid levels in midbrain.|A|G|11|39.0|Non-synonymous|Alive
6569107|IGL01386|13|34915649|Disrupted splicing|||MGI:1919114|1700026j04rik|RIKEN cDNA 1700026J04 gene [Source:MGI Symbol;Acc:MGI:1919114]|Heterozygous||T|A|80|38.0|Splice|Alive
6569108|IGL01386|5|27664762|Disrupted splicing|||MGI:94921|Dpp6|dipeptidylpeptidase 6 [Source:MGI Symbol;Acc:MGI:94921]|Heterozygous||T|A|50|36.0|Splice|Alive
6569109|IGL01386|16|34971240|Disrupted splicing|||MGI:894806|Mylk|myosin, light polypeptide kinase [Source:MGI Symbol;Acc:MGI:894806]|Heterozygous|Mice that lack the isoform abundant in endothelial cells and retain the isoform that is predominant in smooth muscle show a reduced susceptibility to acute lung injury.|A|G|27|38.0|Splice|Alive
6569110|IGL01386|1|184819216|Disrupted splicing|||MGI:1914497|Mosc2|MOCO sulphurase C-terminal domain containing 2 [Source:MGI Symbol;Acc:MGI:1914497]|Heterozygous||A|G|20|38.0|Splice|Alive
6569111|IGL01386|4|123189242|Disrupted splicing|||MGI:2157521|Hpcal4|hippocalcin-like 4 [Source:MGI Symbol;Acc:MGI:2157521]|Heterozygous||T|C|13|36.0|Splice|Alive
6569726|IGL01387|2|89630620|R->Stop||N/A|MGI:3031083|Olfr1249|olfactory receptor 1249 [Source:MGI Symbol;Acc:MGI:3031083]|Heterozygous||T|A|48|40.0|Non-synonymous|Alive
6569727|IGL01387|2|86639250|T->A|0.02|Benign|MGI:3030918|Olfr1084|olfactory receptor 1084 [Source:MGI Symbol;Acc:MGI:3030918]|Heterozygous||T|C|47|38.0|Non-synonymous|Alive
6569728|IGL01387|9|39060321|L->S|1.0|Probably damaging|MGI:3030771|Olfr937|olfactory receptor 937 [Source:MGI Symbol;Acc:MGI:3030771]|Heterozygous||A|G|42|39.0|Non-synonymous|Alive
6569729|IGL01387|18|69985309|D->V|0.99|Probably damaging|MGI:1931295|Rab27b|RAB27b, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1931295]|Heterozygous|Mice homozygous for one null allele exhibit impaired platelet aggregation.|T|A|39|36.0|Non-synonymous|Alive
6569730|IGL01387|1|132938358|V->A|0.98|Probably damaging|MGI:106037|Lrrn2|leucine rich repeat protein 2, neuronal [Source:MGI Symbol;Acc:MGI:106037]|Heterozygous||T|C|38|36.5|Non-synonymous|Alive
6569731|IGL01387|19|56470971|Q->R||Benign|MGI:2443041|9930023k05rik|RIKEN cDNA 9930023K05 gene [Source:MGI Symbol;Acc:MGI:2443041]|Heterozygous||A|G|36|39.5|Non-synonymous|Alive
6569732|IGL01387|10|11170254|I->T|0.99|Probably damaging|MGI:1917581|Shprh|SNF2 histone linker PHD RING helicase [Source:MGI Symbol;Acc:MGI:1917581]|Heterozygous||T|C|34|38.0|Non-synonymous|Alive
6569733|IGL01387|12|38861327|M->R|1.0|Probably damaging|MGI:99254|Etv1|ets variant gene 1 [Source:MGI Symbol;Acc:MGI:99254]|Heterozygous||T|G|34|35.0|Non-synonymous|Alive
6569734|IGL01387|17|18062926|T->K|||MGI:3761531|Vmn2r-ps113|vomeronasal 2, receptor, pseudogene 113 [Source:MGI Symbol;Acc:MGI:3761531]|Heterozygous||C|A|34|40.5|Non-synonymous|Alive
6569735|IGL01387|6|126013277|L->P|0.85|Possibly damaging|MGI:2387214|Ano2|anoctamin 2 [Source:MGI Symbol;Acc:MGI:2387214]|Heterozygous|Mice homozygous for a knock-out allele lack calcium-activated chloride currents in the main olfactory epithelium and vomeronasal organ but normal olfaction in behavioral tasks.|T|C|34|37.0|Non-synonymous|Alive
6569736|IGL01387|7|6570855|Y->C|1.0|Probably damaging|MGI:3031184|Olfr1350|olfactory receptor 1350 [Source:MGI Symbol;Acc:MGI:3031184]|Heterozygous||A|G|31|39.0|Non-synonymous|Alive
6569737|IGL01387|10|130017841|M->K|0.96|Probably damaging|MGI:3030654|Olfr820|olfactory receptor 820 [Source:MGI Symbol;Acc:MGI:3030654]|Heterozygous||T|A|27|40.0|Non-synonymous|Alive
6569738|IGL01387|1|93413588|D->G|0.32|Benign|MGI:99256|Hdlbp|high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive
6569739|IGL01387|16|90757761|L->S|1.0|Probably damaging|MGI:2146468|Urb1|URB1 ribosome biogenesis 1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146468]|Heterozygous||A|G|26|39.0|Non-synonymous|Alive
6569740|IGL01387|11|5338656|C->Stop||N/A|MGI:3039616|Znrf3|zinc and ring finger 3 [Source:MGI Symbol;Acc:MGI:3039616]|Heterozygous||A|T|25|36.0|Non-synonymous|Alive
6569741|IGL01387|9|3005128|S->R|||MGI:3779420|Gm11168|predicted gene 11168 [Source:MGI Symbol;Acc:MGI:3779420]|Heterozygous||T|G|23|39.0|Non-synonymous|Alive
6569742|IGL01387|7|16284499|M->R|0.25|Benign|MGI:1921443|Ccdc9|coiled-coil domain containing 9 [Source:MGI Symbol;Acc:MGI:1921443]|Heterozygous||A|C|22|40.0|Non-synonymous|Alive
6569743|IGL01387|9|53373965|S->I|0.83|Possibly damaging|MGI:2443248|Exph5|exophilin 5 [Source:MGI Symbol;Acc:MGI:2443248]|Heterozygous||G|T|20|39.0|Non-synonymous|Alive
6569745|IGL01387|3|95765319|R->H|0.02|Benign|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||C|T|17|37.0|Non-synonymous|Alive
6569746|IGL01387|14|26653145|I->F|0.49|Possibly damaging|MGI:99433|Arf4|ADP-ribosylation factor 4 [Source:MGI Symbol;Acc:MGI:99433]|Heterozygous||A|T|16|40.5|Non-synonymous|Alive
6569747|IGL01387|9|87211811|L->S||Benign|MGI:1925343|4922501c03rik|RIKEN cDNA 4922501C03 gene [Source:MGI Symbol;Acc:MGI:1925343]|Heterozygous||A|G|14|40.0|Non-synonymous|Alive
6569748|IGL01387|1|88343287|L->P|1.0|Probably damaging|MGI:2181435|Trpm8|transient receptor potential cation channel, subfamily M, member 8 [Source:MGI Symbol;Acc:MGI:2181435]|Heterozygous|Mice homozygous for a null allele exhibit decreased sensitivity to cold and reduced response to cold stimuli.|T|C|12|37.5|Non-synonymous|Alive
6569749|IGL01387|10|79999762|I->T|0.12|Benign|MGI:1351646|Abca7|ATP-binding cassette, sub-family A (ABC1), member 7 [Source:MGI Symbol;Acc:MGI:1351646]|Heterozygous|Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size.|T|C|12|38.5|Non-synonymous|Alive
6569750|IGL01387|5|123283546|I->N|0.99|Probably damaging|MGI:1918495|Wdr66|WD repeat domain 66 [Source:MGI Symbol;Acc:MGI:1918495]|Heterozygous||T|A|12|37.5|Non-synonymous|Alive
6569751|IGL01387|10|81091276|T->A||Benign|MGI:2384786|Creb3l3|cAMP responsive element binding protein 3-like 3 [Source:MGI Symbol;Acc:MGI:2384786]|Heterozygous|Mice homozygous for a knock-out allele are viable and healthy but exhibit reduced expression of acute phase response proteins following treatment with tunicamycin that induces ER stress.|T|C|11|37.0|Non-synonymous|Alive
6569752|IGL01387|8|27036548|L->P||Benign|MGI:2387215|Erlin2|ER lipid raft associated 2 [Source:MGI Symbol;Acc:MGI:2387215]|Heterozygous||T|C|11|35.0|Non-synonymous|Alive
6569753|IGL01387|2|82992982|N->S||Unknown|MGI:2664111|Fsip2|fibrous sheath-interacting protein 2 [Source:MGI Symbol;Acc:MGI:2664111]|Heterozygous||A|G|10|38.5|Non-synonymous|Alive
6569756|IGL01387|13|4197795|Disrupted splicing|||MGI:1351662|Akr1c13|aldo-keto reductase family 1, member C13 [Source:MGI Symbol;Acc:MGI:1351662]|Heterozygous||T|A|52|38.0|Splice|Alive
6569757|IGL01387|6|120795771|Disrupted splicing|||MGI:894326|Atp6v1e1|ATPase, H+ transporting, lysosomal V1 subunit E1 [Source:MGI Symbol;Acc:MGI:894326]|Heterozygous||A|G|20|38.5|Splice|Alive
6569758|IGL01387|9|96177554|Disrupted splicing|||MGI:2443336|Gk5|glycerol kinase 5 (putative) [Source:MGI Symbol;Acc:MGI:2443336]|Heterozygous||T|C|20|37.0|Splice|Alive
6569759|IGL01387|3|69102257|Disrupted splicing|||MGI:1100848|Kpna4|karyopherin (importin) alpha 4 [Source:MGI Symbol;Acc:MGI:1100848]|Heterozygous|Mice homozygous for a null mutation are viable and fertile.|A|G|12|38.5|Splice|Alive
6569760|IGL01387|3|129874913|Disrupted splicing|||MGI:105937|Cfi|complement component factor i [Source:MGI Symbol;Acc:MGI:105937]|Heterozygous|Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritis type II. Plasma C3 circulates as C3b.|T|A|10|38.5|Splice|Alive
6570369|IGL01388|2|87628629|H->Q|0.06|Benign|MGI:3030965|Olfr1131|olfactory receptor 1131 [Source:MGI Symbol;Acc:MGI:3030965]|Heterozygous||T|A|210|39.0|Non-synonymous|Alive
6570370|IGL01388|6|124223832|P->S|0.04|Benign|MGI:3761517|Vmn2r27|vomeronasal 2, receptor27 [Source:MGI Symbol;Acc:MGI:3761517]|Heterozygous||G|A|88|38.5|Non-synonymous|Alive
6570371|IGL01388|7|26937792|R->H|0.17|Benign|MGI:3648316|Cyp2a22|cytochrome P450, family 2, subfamily a, polypeptide 22 [Source:MGI Symbol;Acc:MGI:3648316]|Heterozygous||C|T|79|38.0|Non-synonymous|Alive
6570372|IGL01388|2|36787355|V->L|0.01|Benign|MGI:3030182|Olfr348|olfactory receptor 348 [Source:MGI Symbol;Acc:MGI:3030182]|Heterozygous||G|T|70|40.0|Non-synonymous|Alive
6570373|IGL01388|17|56421261|R->C|1.0|Probably damaging|MGI:97815|Ptprs|protein tyrosine phosphatase, receptor type, S [Source:MGI Symbol;Acc:MGI:97815]|Heterozygous|Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impaired olfaction.|G|A|57|35.0|Non-synonymous|Alive
6570374|IGL01388|14|11281836|D->G|||MGI:95640|Gapdh|GAPDH [Source:UniProtKB/TrEMBL;Acc:Q2VWQ4]|Heterozygous|Mutant heterozygotes show reduced enzyme levels. The currently known mutant allels are homozygous lethal.|T|C|55|37.0|Non-synonymous|Alive
6570375|IGL01388|7|18529665|I->V|0.24|Benign|MGI:1891357|Psg25|pregnancy-specific glycoprotein 25 [Source:MGI Symbol;Acc:MGI:1891357]|Heterozygous||T|C|54|40.0|Non-synonymous|Alive
6570376|IGL01388|5|142661043|F->I|0.74|Possibly damaging|MGI:1923831|Wipi2|WD repeat domain, phosphoinositide interacting 2 [Source:MGI Symbol;Acc:MGI:1923831]|Heterozygous||T|A|53|38.0|Non-synonymous|Alive
6570377|IGL01388|13|27776215|A->S|0.99|Probably damaging|MGI:1914755|Prl7c1|prolactin family 7, subfamily c, member 1 [Source:MGI Symbol;Acc:MGI:1914755]|Heterozygous||C|A|51|38.0|Non-synonymous|Alive
6570378|IGL01388|9|39820002|D->G|0.99|Probably damaging|MGI:3030804|Olfr970|olfactory receptor 970 [Source:MGI Symbol;Acc:MGI:3030804]|Heterozygous||A|G|49|40.0|Non-synonymous|Alive
6570379|IGL01388|6|70315169|S->P|||MGI:1330840|Igkv8-21|immunoglobulin kappa variable 8-21 [Source:MGI Symbol;Acc:MGI:1330840]|Heterozygous||A|G|44|38.0|Non-synonymous|Alive
6570380|IGL01388|9|57036718|V->E|0.49|Possibly damaging|MGI:1928376|Ptpn9|protein tyrosine phosphatase, non-receptor type 9 [Source:MGI Symbol;Acc:MGI:1928376]|Heterozygous|Mice homozygous for a null allele display hemorrhages, craniofacial anomalies, neural tube defects such as exencephaly and meningomyeloceles, cerebral infarctions, abnormal bone development, and >90% late embryonic lethality in addition to severe defects in T lymphocyte and platelet activation.|T|A|39|39.0|Non-synonymous|Alive
6570381|IGL01388|9|38673083|Y->Stop||N/A|MGI:3030752|Olfr918|olfactory receptor 918 [Source:MGI Symbol;Acc:MGI:3030752]|Heterozygous||A|T|38|40.0|Non-synonymous|Alive
6570382|IGL01388|4|133871964|V->I|0.12|Benign|MGI:104558|Rps6ka1|ribosomal protein S6 kinase polypeptide 1 [Source:MGI Symbol;Acc:MGI:104558]|Heterozygous||C|T|36|37.0|Non-synonymous|Alive
6570383|IGL01388|5|57720204|L->P|1.0|Probably damaging|MGI:1860487|Pcdh7|protocadherin 7 [Source:MGI Symbol;Acc:MGI:1860487]|Heterozygous||T|C|33|35.0|Non-synonymous|Alive
6570384|IGL01388|15|25736617|I->V|||MGI:107716|Myo10|myosin X [Source:MGI Symbol;Acc:MGI:107716]|Heterozygous||A|G|31|38.0|Non-synonymous|Alive
6570385|IGL01388|8|9973586|Y->H|0.99|Probably damaging|MGI:1335098|Lig4|ligase IV, DNA, ATP-dependent [Source:MGI Symbol;Acc:MGI:1335098]|Heterozygous|Null homozygotes die late in gestation with extensive CNS apoptosis, blocked lymphopoeiesis and failure of V(D)J joining. Carrier fibroblasts show elevated chromosome breaks. ~40% of homozygous hypomorphs survive, with retarded growth, reduced PBL and progressive loss of hematopoietic stem cells.|A|G|31|38.0|Non-synonymous|Alive
6570386|IGL01388|12|103576849|W->R|1.0|Probably damaging|MGI:1921771|Ppp4r4|protein phosphatase 4, regulatory subunit 4 [Source:MGI Symbol;Acc:MGI:1921771]|Heterozygous||T|A|30|39.0|Non-synonymous|Alive
6570387|IGL01388|15|83620131|I->V||Benign|MGI:1890616|Scube1|signal peptide, CUB domain, EGF-like 1 [Source:MGI Symbol;Acc:MGI:1890616]|Heterozygous|A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia.|T|C|30|36.5|Non-synonymous|Alive
6570388|IGL01388|2|181003471|M->K|0.03|Benign|MGI:1920618|Col20a1|collagen, type XX, alpha 1 [Source:MGI Symbol;Acc:MGI:1920618]|Heterozygous||T|A|26|38.5|Non-synonymous|Alive
6570389|IGL01388|4|139460243|V->A|0.92|Possibly damaging|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||T|C|26|36.0|Non-synonymous|Alive
6570390|IGL01388|5|120748592|S->P|0.99|Probably damaging|MGI:2180852|Oas2|2'-5' oligoadenylate synthetase 2 [Source:MGI Symbol;Acc:MGI:2180852]|Heterozygous||A|G|26|38.0|Non-synonymous|Alive
6570391|IGL01388|10|63504107|E->G|1.0|Probably damaging|MGI:2661445|Ctnna3|catenin (cadherin associated protein), alpha 3 [Source:MGI Symbol;Acc:MGI:2661445]|Heterozygous||A|G|24|39.0|Non-synonymous|Alive
6570392|IGL01388|11|78957452|V->L|0.7|Possibly damaging|MGI:97361|Nos2|nitric oxide synthase 2, inducible [Source:MGI Symbol;Acc:MGI:97361]|Heterozygous||G|T|24|37.5|Non-synonymous|Alive
6570393|IGL01388|4|141642001|Y->C|1.0|Probably damaging|MGI:1916832|Plekhm2|pleckstrin homology domain containing, family M (with RUN domain) member 2 [Source:MGI Symbol;Acc:MGI:1916832]|Heterozygous||T|C|24|39.0|Non-synonymous|Alive
6570394|IGL01388|6|141459738|T->A|1.0|Probably damaging|MGI:1860764|Pde3a|phosphodiesterase 3A, cGMP inhibited [Source:MGI Symbol;Acc:MGI:1860764]|Heterozygous|Homozygous null mice display female infertility with oocyte arrest.|A|G|22|35.5|Non-synonymous|Alive
6570395|IGL01388|1|165605767|D->G|0.38|Benign|MGI:1915731|Mpzl1|myelin protein zero-like 1 [Source:MGI Symbol;Acc:MGI:1915731]|Heterozygous||T|C|21|39.0|Non-synonymous|Alive
6570396|IGL01388|12|19490545|I->S|0.98|Probably damaging|MGI:3646076|Gm6802|predicted gene 6802 [Source:MGI Symbol;Acc:MGI:3646076]|Heterozygous||T|G|21|35.0|Non-synonymous|Alive
6570399|IGL01388|6|90178712|Disrupted splicing|||MGI:2148512|Vmn1r52|vomeronasal 1 receptor 52 [Source:MGI Symbol;Acc:MGI:2148512]|Heterozygous||T|C|42|40.0|Splice|Alive
6570400|IGL01388|8|104834604|Disrupted splicing|||MGI:2448547|Ces2b|carboxyesterase 2B [Source:MGI Symbol;Acc:MGI:2448547]|Heterozygous||A|C|37|40.0|Splice|Alive
6570401|IGL01388|X|166449779|Disrupted splicing|||MGI:1913476|Trappc2|trafficking protein particle complex 2 [Source:MGI Symbol;Acc:MGI:1913476]|Heterozygous||G|A|32|40.0|Splice|Alive
6570402|IGL01388|9|57155989|Disrupted splicing|||MGI:1913449|Commd4|COMM domain containing 4 [Source:MGI Symbol;Acc:MGI:1913449]|Heterozygous||G|A|23|38.0|Splice|Alive
6570403|IGL01388|17|67853039|Disrupted splicing|||MGI:2147003|Arhgap28|Rho GTPase activating protein 28 [Source:MGI Symbol;Acc:MGI:2147003]|Heterozygous||T|G|16|37.0|Splice|Alive
6570404|IGL01388|12|103169759|Disrupted splicing|||MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||T|C|12|40.0|Splice|Alive
6571019|IGL01389|12|116000051|S->P|||MGI:3645723, MGI:3581248|Ac160990.4||Heterozygous||A|G|80|38.0|Non-synonymous|Alive
6571020|IGL01389|11|53979581|S->P|1.0|Probably damaging|MGI:1929481|Slc22a21|solute carrier family 22 (organic cation transporter), member 21 [Source:MGI Symbol;Acc:MGI:1929481]|Heterozygous||A|G|70|37.0|Non-synonymous|Alive
6571021|IGL01389|9|115253900|E->G||Benign|MGI:1915542|Stt3b|STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915542]|Heterozygous||T|C|63|38.0|Non-synonymous|Alive
6571022|IGL01389|3|64117009|T->N|0.96|Probably damaging|MGI:3757666|Vmn2r2|vomeronasal 2, receptor 2 [Source:MGI Symbol;Acc:MGI:3757666]|Heterozygous||G|T|51|37.0|Non-synonymous|Alive
6571023|IGL01389|2|90119068|C->S|1.0|Probably damaging|MGI:3031103|Olfr1269|olfactory receptor 1269 [Source:MGI Symbol;Acc:MGI:3031103]|Heterozygous||A|T|46|39.0|Non-synonymous|Alive
6571024|IGL01389|15|12374626|S->G|0.07|Benign|MGI:1922394|Pdzd2|PDZ domain containing 2 [Source:MGI Symbol;Acc:MGI:1922394]|Heterozygous|Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain.|T|C|43|37.0|Non-synonymous|Alive
6571025|IGL01389|6|40493932|H->R|1.0|Probably damaging|MGI:2681210|Tas2r108|taste receptor, type 2, member 108 [Source:MGI Symbol;Acc:MGI:2681210]|Heterozygous||A|G|32|38.0|Non-synonymous|Alive
6571026|IGL01389|8|104929565|D->E|0.06|Benign|MGI:2443170|Ces2e|carboxylesterase 2E [Source:MGI Symbol;Acc:MGI:2443170]|Heterozygous||T|A|32|38.5|Non-synonymous|Alive
6571027|IGL01389|3|58416238|T->A||Unknown|MGI:1919283|Tsc22d2|TSC22 domain family, member 2 [Source:MGI Symbol;Acc:MGI:1919283]|Heterozygous||A|G|31|35.0|Non-synonymous|Alive
6571028|IGL01389|10|40585135|M->K|0.99|Probably damaging|MGI:1918090|Slc22a16|solute carrier family 22 (organic cation transporter), member 16 [Source:MGI Symbol;Acc:MGI:1918090]|Heterozygous||T|A|29|40.0|Non-synonymous|Alive
6571029|IGL01389|9|122814562|E->G|||MGI:1196217|D9ertd402e|DNA segment, Chr 9, ERATO Doi 402, expressed [Source:MGI Symbol;Acc:MGI:1196217]|Heterozygous||A|G|29|40.0|Non-synonymous|Alive
6571030|IGL01389|1|140154639|T->K|0.02|Benign|MGI:88385|Cfh|complement component factor h [Source:MGI Symbol;Acc:MGI:88385]|Heterozygous|Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age.|G|T|28|40.0|Non-synonymous|Alive
6571031|IGL01389|12|79302553|H->Q||Benign|MGI:3038476, MGI:1099436, MGI:3721634, MGI:3525634|Rad51l1|RAD51-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1099436]|Heterozygous|Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background.|T|A|26|36.0|Non-synonymous|Alive
6571032|IGL01389|17|80281223|V->A|0.03|Benign|MGI:2147067|Dhx57|DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 [Source:MGI Symbol;Acc:MGI:2147067]|Heterozygous||A|G|26|38.0|Non-synonymous|Alive
6571033|IGL01389|4|123829657|V->L||Benign|MGI:3608413|Rhbdl2|rhomboid, veinlet-like 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:3608413]|Heterozygous||G|T|25|39.0|Non-synonymous|Alive
6571034|IGL01389|5|14714521|E->G|||MGI:1349390|Pclo|piccolo (presynaptic cytomatrix protein) [Source:MGI Symbol;Acc:MGI:1349390]|Heterozygous|Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.|A|G|22|38.0|Non-synonymous|Alive
6571035|IGL01389|X|42094552|F->L|1.0|Probably damaging|MGI:107572|Xiap|X-linked inhibitor of apoptosis [Source:MGI Symbol;Acc:MGI:107572]|Heterozygous|Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product.|T|C|21|37.0|Non-synonymous|Alive
6571036|IGL01389|11|101254035|Q->Stop||N/A|MGI:106354|Vps25|vacuolar protein sorting 25 (yeast) [Source:MGI Symbol;Acc:MGI:106354]|Heterozygous||C|T|16|38.0|Non-synonymous|Alive
6571037|IGL01389|4|141022112|E->G|0.56|Possibly damaging|MGI:3529431|Crocc|ciliary rootlet coiled-coil, rootletin [Source:MGI Symbol;Acc:MGI:3529431]|Heterozygous||T|C|16|38.5|Non-synonymous|Alive
6571038|IGL01389|7|27281047|F->V||Benign|MGI:894702|Numbl|numb-like [Source:MGI Symbol;Acc:MGI:894702]|Heterozygous|Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility.|T|G|16|35.0|Non-synonymous|Alive
6571039|IGL01389|1|37949930|P->S|1.0|Probably damaging|MGI:1916791|Lyg1|lysozyme G-like 1 [Source:MGI Symbol;Acc:MGI:1916791]|Heterozygous||G|A|15|37.0|Non-synonymous|Alive
6571040|IGL01389|X|35993048|V->A|0.02|Benign|MGI:1923224|Dock11|dedicator of cytokinesis 11 [Source:MGI Symbol;Acc:MGI:1923224]|Heterozygous||T|C|15|37.0|Non-synonymous|Alive
6571041|IGL01389|16|20741225|M->V|0.14|Benign|MGI:1313268|Chrd|chordin [Source:MGI Symbol;Acc:MGI:1313268]|Heterozygous|Homozygotes for a targeted null mutation show some death prior to embryonic day 8.5, but most die perinatally with abnormalities of the skull, malformations of cervical and thoracic vertebrae, cardiovascular defects, and absence of parathyroid and thymus.|A|G|13|39.0|Non-synonymous|Alive
6571042|IGL01389|7|17747375|V->G|1.0|Probably damaging|MGI:1920500|Ceacam5|carcinoembryonic antigen-related cell adhesion molecule 5 [Source:MGI Symbol;Acc:MGI:1920500]|Heterozygous||T|G|10|39.0|Non-synonymous|Alive
6571047|IGL01389|4|116711306|Disrupted splicing|||MGI:1915644|Ccdc163|coiled-coil domain containing 163 [Source:MGI Symbol;Acc:MGI:1915644]|Heterozygous||T|C|25|39.0|Splice|Alive
6571048|IGL01389|X|162769943|Disrupted splicing|||MGI:1194910|Rbbp7|retinoblastoma binding protein 7 [Source:MGI Symbol;Acc:MGI:1194910]|Heterozygous||T|C|13|38.0|Splice|Alive
6571049|IGL01389|3|145077868|Disrupted splicing|||MGI:2139758|Clca5|chloride channel calcium activated 5 [Source:MGI Symbol;Acc:MGI:2139758]|Heterozygous|Mice homozygous for a targeted null mutation exhibit increases in liver weight to body weight ratio and hepatocyte hypertrophy; one incidence of multifocal hepatic necrosis.|C|T|11|38.0|Splice|Alive
6571647|IGL01390|9|21803045|V->A|0.98|Probably damaging|MGI:1914789|Dock6|dedicator of cytokinesis 6 [Source:MGI Symbol;Acc:MGI:1914789]|Heterozygous||A|G|106|38.0|Non-synonymous|Alive
6571648|IGL01390|11|101043802|K->R||Benign|MGI:103286|Atp6v0a1|ATPase, H+ transporting, lysosomal V0 subunit A1 [Source:MGI Symbol;Acc:MGI:103286]|Heterozygous||A|G|99|40.0|Non-synonymous|Alive
6571649|IGL01390|13|74150761|I->L|||MGI:105064|Slc9a3|solute carrier family 9 (sodium/hydrogen exchanger), member 3 [Source:MGI Symbol;Acc:MGI:105064]|Heterozygous|Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile.|A|C|96|35.0|Non-synonymous|Alive
6571650|IGL01390|19|48790131|Y->N|0.8|Possibly damaging|MGI:1913923|Sorcs3|sortilin-related VPS10 domain containing receptor 3 [Source:MGI Symbol;Acc:MGI:1913923]|Heterozygous||T|A|84|39.0|Non-synonymous|Alive
6571651|IGL01390|14|28943591|T->A|0.01|Benign|MGI:1338890|Cacna2d3|calcium channel, voltage-dependent, alpha2/delta subunit 3 [Source:MGI Symbol;Acc:MGI:1338890]|Heterozygous|Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity.|T|C|80|35.5|Non-synonymous|Alive
6571652|IGL01390|6|55897998|P->L|0.1|Benign|MGI:2685304|Ccdc129|coiled-coil domain containing 129 [Source:MGI Symbol;Acc:MGI:2685304]|Heterozygous||C|T|69|39.0|Non-synonymous|Alive
6571653|IGL01390|2|86085640|I->V||Benign|MGI:3030871|Olfr1037|olfactory receptor 1037 [Source:MGI Symbol;Acc:MGI:3030871]|Heterozygous||T|C|48|39.0|Non-synonymous|Alive
6571654|IGL01390|7|102427162|Q->R|0.65|Possibly damaging|MGI:107476|Stim1|stromal interaction molecule 1 [Source:MGI Symbol;Acc:MGI:107476]|Heterozygous|Mice homozygous for a null allele exhibit perinatal and postnatal lethality, with all mice dieing by 2 weeks of age, and severe growth retardation.|A|G|48|36.0|Non-synonymous|Alive
6571655|IGL01390|4|132003737|I->V||Benign|MGI:95401|Epb4.1|erythrocyte protein band 4.1 [Source:MGI Symbol;Acc:MGI:95401]|Heterozygous|Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin.|T|C|44|38.0|Non-synonymous|Alive
6571656|IGL01390|14|89898241|V->L||Benign|MGI:3641718|Gm10110|predicted gene 10110 [Source:MGI Symbol;Acc:MGI:3641718]|Heterozygous||C|A|41|36.0|Non-synonymous|Alive
6571657|IGL01390|18|36670081|L->P|1.0|Probably damaging|MGI:1344414|Sra1|steroid receptor RNA activator 1 [Source:MGI Symbol;Acc:MGI:1344414]|Heterozygous||A|G|37|35.0|Non-synonymous|Alive
6571658|IGL01390|11|96287011|N->T|0.98|Probably damaging|MGI:96188|Hoxb7|homeobox B7 [Source:MGI Symbol;Acc:MGI:96188]|Heterozygous|Homozygotes for a targeted null mutation exhibit first and second rib defects.|A|C|36|35.0|Non-synonymous|Alive
6571659|IGL01390|6|131685485|Y->F|1.0|Probably damaging|MGI:2681185|Tas2r104|taste receptor, type 2, member 104 [Source:MGI Symbol;Acc:MGI:2681185]|Heterozygous||T|A|36|38.0|Non-synonymous|Alive
6571660|IGL01390|5|115438721|D->E|0.84|Possibly damaging|MGI:107376|Msi1|Musashi homolog 1(Drosophila) [Source:MGI Symbol;Acc:MGI:107376]|Heterozygous|Most homozygous null mice develop hydrocephalus associated with progressive ventricular dilation, a large domed cranium, thin cerebral cortices, callosal agenesis, aberrant proliferation and polyposis of ependymal cells, intracerebral bleeding, ataxia, dehydration and death at 1-2 months of age.|T|A|24|36.5|Non-synonymous|Alive
6571661|IGL01390|1|69570642|C->F|1.0|Probably damaging|MGI:1342541|Ikzf2|IKAROS family zinc finger 2 [Source:MGI Symbol;Acc:MGI:1342541]|Heterozygous|Homozygous null mice exhibit postnatal lethality for unknown reasons. Survivors have decreased body weight. Postnatal lethality has complete penetrance on the C57BL/6 strain.|C|A|23|40.0|Non-synonymous|Alive
6571662|IGL01390|7|43466465|S->F|0.98|Probably damaging|MGI:1922940|Vsig10l|ZV-set and immunoglobulin domain containing 10 like [Source:MGI Symbol;Acc:MGI:1922940]|Heterozygous||C|T|22|35.0|Non-synonymous|Alive
6571663|IGL01390|13|27710166|V->A|0.61|Possibly damaging|MGI:97619|Prl7d1|prolactin family 7, subfamily d, member 1 [Source:MGI Symbol;Acc:MGI:97619]|Heterozygous||A|G|21|39.0|Non-synonymous|Alive
6571664|IGL01390|14|73294999|I->F|0.56|Possibly damaging|MGI:97874|Rb1|retinoblastoma 1 [Source:MGI Symbol;Acc:MGI:97874]|Heterozygous|Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele.|T|A|21|40.0|Non-synonymous|Alive
6571665|IGL01390|15|28411540|D->G|0.25|Benign|MGI:107718|Dnahc5|dynein, axonemal, heavy chain 5 [Source:MGI Symbol;Acc:MGI:107718]|Heterozygous|Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.|A|G|20|38.0|Non-synonymous|Alive
6571666|IGL01390|19|38161928|Y->C|0.99|Probably damaging|MGI:105956|Pde6c|phosphodiesterase 6C, cGMP specific, cone, alpha prime [Source:MGI Symbol;Acc:MGI:105956]|Heterozygous|A spontaneous mutation in this gene results in abnormal cone photoreceptor function.|A|G|20|38.0|Non-synonymous|Alive
6571667|IGL01390|7|134745047|I->T|0.97|Probably damaging|MGI:2429765|Dock1|dedicator of cytokinesis 1 [Source:MGI Symbol;Acc:MGI:2429765]|Heterozygous|Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.|T|C|19|38.0|Non-synonymous|Alive
6571668|IGL01390|17|64710705|Y->H|0.19|Benign|MGI:104669|Man2a1|mannosidase 2, alpha 1 [Source:MGI Symbol;Acc:MGI:104669]|Heterozygous|Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria,|T|C|13|38.0|Non-synonymous|Alive
6571669|IGL01390|1|54987429|I->V|||MGI:1932339|Sf3b1|splicing factor 3b, subunit 1 [Source:MGI Symbol;Acc:MGI:1932339]|Heterozygous|Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations.|T|C|11|39.0|Non-synonymous|Alive
6571670|IGL01390|5|33668061|Disrupted splicing|||MGI:1341163|Tacc3|transforming, acidic coiled-coil containing protein 3 [Source:MGI Symbol;Acc:MGI:1341163]|Heterozygous||C|T|72|39.0|Splice|Alive
6571671|IGL01390|1|152571588|Disrupted splicing|||MGI:107484|Rgl1|ral guanine nucleotide dissociation stimulator,-like 1 [Source:MGI Symbol;Acc:MGI:107484]|Heterozygous||A|G|48|37.5|Splice|Alive
6571672|IGL01390|13|23683516|Disrupted splicing|||MGI:2448287|Hist1h2ac|histone cluster 1, H2ac [Source:MGI Symbol;Acc:MGI:2448287]|Heterozygous||T|C|38|35.0|Splice|Alive
6571673|IGL01390|8|70895510|Disrupted splicing|||MGI:1924058|Rpl18a|ribosomal protein L18A [Source:MGI Symbol;Acc:MGI:1924058]|Heterozygous||G|T|36|37.0|Splice|Alive
6571674|IGL01390|5|135156363|Disrupted splicing|||MGI:1351652|Tbl2|transducin (beta)-like 2 [Source:MGI Symbol;Acc:MGI:1351652]|Heterozygous||T|C|34|38.0|Splice|Alive
6571675|IGL01390|2|132838078|Disrupted splicing|||MGI:1913884|Mcm8|minichromosome maintenance deficient 8 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1913884]|Heterozygous||T|C|25|39.0|Splice|Alive
6571676|IGL01390|4|11218679|Disrupted splicing|||MGI:1919906|Ints8|integrator complex subunit 8 [Source:MGI Symbol;Acc:MGI:1919906]|Heterozygous||A|T|19|40.0|Splice|Alive
6572289|IGL01391|5|109363761|D->E|0.86|Possibly damaging|MGI:3647194|Vmn2r16|vomeronasal 2, receptor 16 [Source:MGI Symbol;Acc:MGI:3647194]|Heterozygous||T|A|141|38.0|Non-synonymous|Alive
6572290|IGL01391|11|17946005|T->I|0.6|Possibly damaging|MGI:1915395|Etaa1|Ewing's tumor-associated antigen 1 [Source:MGI Symbol;Acc:MGI:1915395]|Heterozygous||G|A|103|40.0|Non-synonymous|Alive
6572291|IGL01391|2|76968503|T->A||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|102|35.0|Non-synonymous|Alive
6572292|IGL01391|18|61003310|A->S|0.99|Probably damaging|MGI:2147363|Slc6a7|solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 [Source:MGI Symbol;Acc:MGI:2147363]|Heterozygous||C|A|96|39.0|Non-synonymous|Alive
6572293|IGL01391|4|108940802|C->R|1.0|Probably damaging|MGI:1917158|Rab3b|RAB3B, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1917158]|Heterozygous|Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility.|T|C|66|38.0|Non-synonymous|Alive
6572294|IGL01391|2|152007602|I->V|0.39|Benign|MGI:1916948|Slc52a3|solute carrier protein family 52, member 3 [Source:MGI Symbol;Acc:MGI:1916948]|Heterozygous||A|G|64|37.0|Non-synonymous|Alive
6572295|IGL01391|13|32845415|S->L|0.03|Benign|MGI:1913472|Serpinb1a|serine (or cysteine) peptidase inhibitor, clade B, member 1a [Source:MGI Symbol;Acc:MGI:1913472]|Heterozygous|Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D.|G|A|56|39.5|Non-synonymous|Alive
6572296|IGL01391|11|58317366|F->S|0.69|Possibly damaging|MGI:2442105|Zfp672|zinc finger protein 672 [Source:MGI Symbol;Acc:MGI:2442105]|Heterozygous||A|G|55|37.0|Non-synonymous|Alive
6572297|IGL01391|5|30864897|I->T|0.98|Probably damaging|MGI:2140967|Mapre3|microtubule-associated protein, RP/EB family, member 3 [Source:MGI Symbol;Acc:MGI:2140967]|Heterozygous||T|C|54|37.0|Non-synonymous|Alive
6572298|IGL01391|12|88178455|V->I|0.66|Possibly damaging|MGI:3800544|Gm2042|predicted gene 2042 [Source:MGI Symbol;Acc:MGI:3800544]|Heterozygous||C|T|50|40.0|Non-synonymous|Alive
6572299|IGL01391|2|53192144|R->G|0.7|Possibly damaging|MGI:1929507|Arl6ip6|ADP-ribosylation factor-like 6 interacting protein 6 [Source:MGI Symbol;Acc:MGI:1929507]|Heterozygous||A|G|49|35.0|Non-synonymous|Alive
6572300|IGL01391|18|33801625|D->A|0.95|Possibly damaging|MGI:103007|Epb4.1l4a|erythrocyte protein band 4.1-like 4a [Source:MGI Symbol;Acc:MGI:103007]|Heterozygous||T|G|47|37.0|Non-synonymous|Alive
6572301|IGL01391|9|121778917|Y->C|1.0|Probably damaging|MGI:1919580|Kbtbd5|kelch repeat and BTB (POZ) domain containing 5 [Source:MGI Symbol;Acc:MGI:1919580]|Heterozygous||A|G|46|37.0|Non-synonymous|Alive
6572302|IGL01391|6|13190527|S->R||Benign|MGI:2685313|Vwde|von Willebrand factor D and EGF domains [Source:MGI Symbol;Acc:MGI:2685313]|Heterozygous||T|G|45|39.0|Non-synonymous|Alive
6572303|IGL01391|7|141262481|Y->H|1.0|Probably damaging|MGI:2141847|Phrf1|PHD and ring finger domains 1 [Source:MGI Symbol;Acc:MGI:2141847]|Heterozygous||T|C|40|38.0|Non-synonymous|Alive
6572304|IGL01391|7|85237611|T->A|||MGI:3648297|Vmn2r68-ps|vomeronasal 2, receptor 68, pseudogene [Source:MGI Symbol;Acc:MGI:3648297]|Heterozygous||T|C|38|38.0|Non-synonymous|Alive
6572305|IGL01391|7|86386000|I->N|0.76|Possibly damaging|MGI:3030138|Olfr304|olfactory receptor 304 [Source:MGI Symbol;Acc:MGI:3030138]|Heterozygous||A|T|38|38.0|Non-synonymous|Alive
6572306|IGL01391|9|76164825|G->Stop||N/A|MGI:3607786|Gfral|GDNF family receptor alpha like [Source:MGI Symbol;Acc:MGI:3607786]|Heterozygous||C|A|37|40.0|Non-synonymous|Alive
6572307|IGL01391|9|38775530|I->V|0.96|Probably damaging|MGI:3030755|Olfr921|olfactory receptor 921 [Source:MGI Symbol;Acc:MGI:3030755]|Heterozygous||A|G|33|40.0|Non-synonymous|Alive
6572308|IGL01391|19|5046695|E->G|0.4|Benign|MGI:2388804|Brms1|breast cancer metastasis-suppressor 1 [Source:MGI Symbol;Acc:MGI:2388804]|Heterozygous||A|G|31|39.0|Non-synonymous|Alive
6572309|IGL01391|6|83771240|V->A||Benign|MGI:1096575|Tex261|testis expressed gene 261 [Source:MGI Symbol;Acc:MGI:1096575]|Heterozygous||A|G|29|38.0|Non-synonymous|Alive
6572310|IGL01391|11|58848694|T->A||Benign|MGI:3651534|Gm12258|predicted gene 12258 [Source:MGI Symbol;Acc:MGI:3651534]|Heterozygous||A|G|28|38.0|Non-synonymous|Alive
6572311|IGL01391|2|156036456|H->L|1.0|Probably damaging|MGI:1921812|Fer1l4|fer-1-like 4 (C. elegans) [Source:MGI Symbol;Acc:MGI:1921812]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive
6572312|IGL01391|11|67217863|M->I||Benign|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|G|A|27|37.0|Non-synonymous|Alive
6572314|IGL01391|2|36103465|C->S|||MGI:1306803|Lhx6|LIM homeobox protein 6 [Source:MGI Symbol;Acc:MGI:1306803]|Heterozygous|Homozygous mutation of this gene results in impaired migration and specification of cortical interneurons, postnatal lethality and weakness.|A|T|27|37.0|Non-synonymous|Alive
6572315|IGL01391|5|91141095|S->T|0.51|Possibly damaging|MGI:88068|Areg|amphiregulin [Source:MGI Symbol;Acc:MGI:88068]|Heterozygous|Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds.|T|A|26|38.0|Non-synonymous|Alive
6572316|IGL01391|9|106907234|M->K|||MGI:2429763|Dock3|dedicator of cyto-kinesis 3 [Source:MGI Symbol;Acc:MGI:2429763]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy.|A|T|26|41.0|Non-synonymous|Alive
6572317|IGL01391|1|74579540|V->A|0.94|Possibly damaging|MGI:1924514|Zfp142|zinc finger protein 142 [Source:MGI Symbol;Acc:MGI:1924514]|Heterozygous||A|G|25|38.0|Non-synonymous|Alive
6572318|IGL01391|7|62380884|S->G|||MGI:1351648|Magel2|melanoma antigen, family L, 2 [Source:MGI Symbol;Acc:MGI:1351648]|Heterozygous|Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethality associated with weak suckling activity.|A|G|24|39.0|Non-synonymous|Alive
6572319|IGL01391|6|42593681|Y->C|1.0|Probably damaging|MGI:3042585|Fam115e|family with sequence similarity 115, member E [Source:MGI Symbol;Acc:MGI:3042585]|Heterozygous||T|C|22|35.0|Non-synonymous|Alive
6572320|IGL01391|5|36971563|Q->K||Benign|MGI:1328355|Wfs1|Wolfram syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1328355]|Heterozygous|Mice homozygous for a null allele exhibit decreased pancreatic beta cells and impaired glucose tolerance. Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased body weight, and abnormal behavior associated with increased sensitivity to stress.|G|T|21|35.0|Non-synonymous|Alive
6572321|IGL01391|8|22799647|I->F|0.01|Benign|MGI:1929214|Ap3m2|adaptor-related protein complex 3, mu 2 subunit [Source:MGI Symbol;Acc:MGI:1929214]|Heterozygous|Homozygous null mice suffer from spontaneous recurrent epileptic seizures, are more susceptible to drug-induced seizures and show impaired GABA release, fewer synaptic vesicles, enhanced long-term potentiation, and abnormal propagation of neuronal excitability via the temporoammonic pathway.|T|A|21|38.0|Non-synonymous|Alive
6572322|IGL01391|13|11556685|I->N|0.99|Probably damaging|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|A|T|19|40.0|Non-synonymous|Alive
6572323|IGL01391|13|89704169|S->P|0.02|Benign|MGI:102889|Vcan|versican [Source:MGI Symbol;Acc:MGI:102889]|Heterozygous|Homozygotes for an insertional mutation exhibit anterior-posterior segmental defects of the heart, lack endocardial cushions of the conus and atrioventricular region, and die and around embryonic day 10.5.|A|G|19|38.0|Non-synonymous|Alive
6572324|IGL01391|11|115990920|L->P|1.0|Probably damaging|MGI:96613|Itgb4|integrin beta 4 [Source:MGI Symbol;Acc:MGI:96613]|Heterozygous|Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence.|T|C|16|39.0|Non-synonymous|Alive
6572325|IGL01391|9|95773698|K->E|0.14|Benign|MGI:104809|Pls1|plastin 1 (I-isoform) [Source:MGI Symbol;Acc:MGI:104809]|Heterozygous||T|C|16|40.0|Non-synonymous|Alive
6572326|IGL01391|9|73022291|T->A|0.87|Possibly damaging|MGI:1891825|Pigb|phosphatidylinositol glycan anchor biosynthesis, class B [Source:MGI Symbol;Acc:MGI:1891825]|Heterozygous||T|C|15|40.0|Non-synonymous|Alive
6572327|IGL01391|11|102674287|Y->C|1.0|Probably damaging|MGI:2686410|Gm1564|predicted gene 1564 [Source:MGI Symbol;Acc:MGI:2686410]|Heterozygous||A|G|14|39.5|Non-synonymous|Alive
6572328|IGL01391|11|78361494|M->T|0.99|Probably damaging|MGI:102949|Foxn1|forkhead box N1 [Source:MGI Symbol;Acc:MGI:102949]|Heterozygous|Homozygotes for different mutations have in genetically determined absence or loss of hair and failed hair keratinization, premature lethality (differing by genetic background) and absence of thymus, resulting in multiple immune abnormalities. Heterozygotes have enlarged thymuses.|A|G|13|40.0|Non-synonymous|Alive
6572329|IGL01391|5|88521524|C->Y|1.0|Probably damaging|MGI:96493|Igj|immunoglobulin joining chain [Source:MGI Symbol;Acc:MGI:96493]|Heterozygous||C|T|13|39.0|Non-synonymous|Alive
6572330|IGL01391|6|52204331|N->S|0.65|Possibly damaging|MGI:96177|Hoxa5|homeobox A5 [Source:MGI Symbol;Acc:MGI:96177]|Heterozygous||T|C|13|35.0|Non-synonymous|Alive
6572331|IGL01391|11|86328497|H->Q||Benign|MGI:3029632|Med13|mediator complex subunit 13 [Source:MGI Symbol;Acc:MGI:3029632]|Heterozygous||A|T|10|41.0|Non-synonymous|Alive
6572334|IGL01391|7|4514212|Disrupted splicing|||MGI:1333868|Tnnt1|troponin T1, skeletal, slow [Source:MGI Symbol;Acc:MGI:1333868]|Heterozygous||C|T|114|37.0|Splice|Alive
6572335|IGL01391|3|100146789|Disrupted splicing|||MGI:2443143|Wdr3|WD repeat domain 3 [Source:MGI Symbol;Acc:MGI:2443143]|Heterozygous||G|A|70|40.0|Splice|Alive
6572336|IGL01391|8|13014010|Disrupted splicing|||MGI:103263|Mcf2l|mcf.2 transforming sequence-like [Source:MGI Symbol;Acc:MGI:103263]|Heterozygous||A|T|64|35.0|Splice|Alive
6572337|IGL01391|17|5318858|Disrupted splicing|||MGI:1926129|Arid1b|AT rich interactive domain 1B (SWI-like) [Source:MGI Symbol;Acc:MGI:1926129]|Heterozygous||T|A|48|33.5|Splice|Alive
6572338|IGL01391|6|61638521|Disrupted splicing|||MGI:3045354|Fam190a|family with sequence similarity 190, member A [Source:MGI Symbol;Acc:MGI:3045354]|Heterozygous||A|G|26|39.0|Splice|Alive
6572339|IGL01391|11|84911457|Disrupted splicing|||MGI:3051596|Znhit3|zinc finger, HIT type 3 [Source:MGI Symbol;Acc:MGI:3051596]|Heterozygous||A|T|11|40.0|Splice|Alive
6572933|IGL01392|6|132312420|N->S||Unknown|MGI:1927478|Prpmp5|proline-rich protein MP5 [Source:MGI Symbol;Acc:MGI:1927478]|Heterozygous||T|C|287|37.0|Non-synonymous|Alive
6572934|IGL01392|12|115193937|L->P|||MGI:3581248, MGI:3052201, MGI:3647133|Ac074329.4||Heterozygous||A|G|200|39.0|Non-synonymous|Alive
6572935|IGL01392|7|108630678|R->C|0.06|Benign|MGI:3030342|Olfr508|olfactory receptor 508 [Source:MGI Symbol;Acc:MGI:3030342]|Heterozygous||C|T|155|39.0|Non-synonymous|Alive
6572936|IGL01392|17|13948907|D->N||Benign|MGI:3643198|Gm7168|predicted gene 7168 [Source:MGI Symbol;Acc:MGI:3643198]|Heterozygous||G|A|130|38.5|Non-synonymous|Alive
6572937|IGL01392|4|133681037|D->G|1.0|Probably damaging|MGI:1935147|Arid1a|AT rich interactive domain 1A (SWI-like) [Source:MGI Symbol;Acc:MGI:1935147]|Heterozygous|Embryos with homozygous null alleles arrest development at E6.5 with failure to form a mesoderm layer. Mice homozygous for an allele lacking exon 2 and 3 die shortly after birth and exhibit an increase in the hematopoietic stem cell population of the fetal liver at E14.5.|T|C|103|35.0|Non-synonymous|Alive
6572938|IGL01392|19|12680803|Y->N|0.12|Benign|MGI:3031277|Olfr1443|olfactory receptor 1443 [Source:MGI Symbol;Acc:MGI:3031277]|Heterozygous||T|A|96|39.0|Non-synonymous|Alive
6572939|IGL01392|10|22664684|V->A|0.88|Possibly damaging|MGI:3052471|Slc2a12|solute carrier family 2 (facilitated glucose transporter), member 12 [Source:MGI Symbol;Acc:MGI:3052471]|Heterozygous||T|C|78|35.0|Non-synonymous|Alive
6572940|IGL01392|17|43450012|Q->L|||MGI:2182928|Gpr116|G protein-coupled receptor 116 [Source:MGI Symbol;Acc:MGI:2182928]|Heterozygous||A|T|68|38.0|Non-synonymous|Alive
6572941|IGL01392|6|70117347|S->P|||MGI:3642250|Igkv8-30|immunoglobulin kappa chain variable 8-30 [Source:MGI Symbol;Acc:MGI:3642250]|Heterozygous||A|G|65|39.0|Non-synonymous|Alive
6572942|IGL01392|17|12704349|M->T||Benign|MGI:96435|Igf2r|insulin-like growth factor 2 receptor [Source:MGI Symbol;Acc:MGI:96435]|Heterozygous||A|G|63|37.0|Non-synonymous|Alive
6572943|IGL01392|4|141642426|V->A|0.99|Probably damaging|MGI:1916832|Plekhm2|pleckstrin homology domain containing, family M (with RUN domain) member 2 [Source:MGI Symbol;Acc:MGI:1916832]|Heterozygous||A|G|63|35.0|Non-synonymous|Alive
6572944|IGL01392|7|106083755|I->V|||MGI:4438566, MGI:2680361, MGI:5313110, MGI:3589937, MGI:3608893, MGI:5434048|Ac165356.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QPZ6]|Heterozygous||T|C|55|40.0|Non-synonymous|Alive
6572945|IGL01392|5|114797853|E->G||Benign|MGI:1915670|Ankrd13a|ankyrin repeat domain 13a [Source:MGI Symbol;Acc:MGI:1915670]|Heterozygous||A|G|51|35.0|Non-synonymous|Alive
6572946|IGL01392|16|38374131|V->L|0.01|Benign|MGI:1930150|Popdc2|popeye domain containing 2 [Source:MGI Symbol;Acc:MGI:1930150]|Heterozygous||G|T|49|39.0|Non-synonymous|Alive
6572947|IGL01392|8|27197991|T->A|1.0|Probably damaging|MGI:1923865|Got1l1|glutamic-oxaloacetic transaminase 1-like 1 [Source:MGI Symbol;Acc:MGI:1923865]|Heterozygous||T|C|46|34.0|Non-synonymous|Alive
6572948|IGL01392|1|46126788|Y->H|1.0|Probably damaging|MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||T|C|38|36.0|Non-synonymous|Alive
6572949|IGL01392|13|93089206|S->G|0.92|Possibly damaging|MGI:1923719|Cmya5|cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]|Heterozygous||T|C|36|39.5|Non-synonymous|Alive
6572950|IGL01392|2|58500546|V->A||Benign|MGI:87911|Acvr1|activin A receptor, type 1 [Source:MGI Symbol;Acc:MGI:87911]|Heterozygous||A|G|36|38.5|Non-synonymous|Alive
6572951|IGL01392|11|62340594|S->P|0.81|Possibly damaging|MGI:1349717|Ncor1|nuclear receptor co-repressor 1 [Source:MGI Symbol;Acc:MGI:1349717]|Heterozygous|Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities.|A|G|34|39.0|Non-synonymous|Alive
6572952|IGL01392|4|152393797|V->E|0.97|Probably damaging|MGI:109239|Kcnab2|potassium voltage-gated channel, shaker-related subfamily, beta member 2 [Source:MGI Symbol;Acc:MGI:109239]|Heterozygous|Homozygous null mice show strain-specific changes in survival, body weight, thermoregulation and cold-swim induced tremors, impaired associative learning and memory, sporadic seizures and amygala hyperexcitability. Mice homozygous for a knock-in mutation show no deficits in associative learning.|A|T|34|38.0|Non-synonymous|Alive
6572953|IGL01392|7|102803854|Y->Stop||N/A|MGI:3030398|Olfr564|olfactory receptor 564 [Source:MGI Symbol;Acc:MGI:3030398]|Heterozygous||T|A|30|40.0|Non-synonymous|Alive
6572954|IGL01392|3|63362046|D->G|0.99|Probably damaging|MGI:97004|Mme|membrane metallo endopeptidase [Source:MGI Symbol;Acc:MGI:97004]|Heterozygous||A|G|27|39.0|Non-synonymous|Alive
6572955|IGL01392|11|67221301|N->S|1.0|Probably damaging|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|A|G|25|40.0|Non-synonymous|Alive
6572956|IGL01392|7|25363749|V->A|0.04|Benign|MGI:2446294|Megf8|multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]|Heterozygous||T|C|25|35.0|Non-synonymous|Alive
6572957|IGL01392|18|88995613|H->Y|1.0|Probably damaging|MGI:2179288|Rttn|rotatin [Source:MGI Symbol;Acc:MGI:2179288]|Heterozygous|Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.|C|T|24|35.0|Non-synonymous|Alive
6572958|IGL01392|2|139546421|E->G|1.0|Probably damaging|MGI:2444678|Sptlc3|serine palmitoyltransferase, long chain base subunit 3 [Source:MGI Symbol;Acc:MGI:2444678]|Heterozygous||A|G|16|40.0|Non-synonymous|Alive
6572959|IGL01392|1|162930011|K->N|||MGI:2681841|Fmo6|flavin containing monooxygenase 6 [Source:MGI Symbol;Acc:MGI:2681841]|Heterozygous||T|A|14|39.5|Non-synonymous|Alive
6572960|IGL01392|7|43591130|F->Y|1.0|Probably damaging|MGI:2444708|Zfp719|zinc finger protein 719 [Source:MGI Symbol;Acc:MGI:2444708]|Heterozygous||T|A|13|39.0|Non-synonymous|Alive
6572961|IGL01392|4|109253874|E->G|0.64|Possibly damaging|MGI:2140435|Calr4|calreticulin 4 [Source:MGI Symbol;Acc:MGI:2140435]|Heterozygous||A|G|12|36.5|Non-synonymous|Alive
6572962|IGL01392|14|100149757|I->N|0.9|Possibly damaging|MGI:1333796|Klf12|Kruppel-like factor 12 [Source:MGI Symbol;Acc:MGI:1333796]|Heterozygous||A|T|11|40.0|Non-synonymous|Alive
6572963|IGL01392|7|24258447|Disrupted splicing|||MGI:1891198|Zfp108|zinc finger protein 108 [Source:MGI Symbol;Acc:MGI:1891198]|Heterozygous||T|C|69|39.0|Splice|Alive
6572964|IGL01392|4|117589159|Disrupted splicing|||MGI:2153887|Eri3|exoribonuclease 3 [Source:MGI Symbol;Acc:MGI:2153887]|Heterozygous||T|C|26|37.5|Splice|Alive
6572965|IGL01392|7|107197913|Disrupted splicing|||MGI:1924108|Nlrp14|NLR family, pyrin domain containing 14 [Source:MGI Symbol;Acc:MGI:1924108]|Heterozygous||A|G|23|39.0|Splice|Alive
6573562|IGL01393|2|11683054|D->G|1.0|Probably damaging|MGI:96549|Il2ra|interleukin 2 receptor, alpha chain [Source:MGI Symbol;Acc:MGI:96549]|Heterozygous|Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age.|A|G|221|38.0|Non-synonymous|Alive
6573563|IGL01393|7|42266834|Q->H|||MGI:1351347|Vmn2r61|vomeronasal 2, receptor 61 [Source:MGI Symbol;Acc:MGI:1351347]|Heterozygous||A|C|219|40.0|Non-synonymous|Alive
6573564|IGL01393|7|23404174|K->R|0.16|Benign|MGI:1345193|Nlrp5|NLR family, pyrin domain containing 5 [Source:MGI Symbol;Acc:MGI:1345193]|Heterozygous|Females lacking this maternal effect gene are sterile. Preimplantation embryos do not develop past the 2-cell stage.|A|G|190|39.0|Non-synonymous|Alive
6573565|IGL01393|14|36096422|V->I|0.02|Benign|MGI:3586330|4930474n05rik|RIKEN cDNA 4930474N05 gene [Source:MGI Symbol;Acc:MGI:3586330]|Heterozygous||G|A|175|39.0|Non-synonymous|Alive
6573566|IGL01393|2|36850541|R->Q||Benign|MGI:3030184|Olfr350|olfactory receptor 350 [Source:MGI Symbol;Acc:MGI:3030184]|Heterozygous||G|A|164|39.0|Non-synonymous|Alive
6573567|IGL01393|2|111645256|V->A|1.0|Probably damaging|MGI:3031132|Olfr1298|olfactory receptor 1298 [Source:MGI Symbol;Acc:MGI:3031132]|Heterozygous||A|G|137|37.0|Non-synonymous|Alive
6573568|IGL01393|12|101933047|C->S||Benign|MGI:1099442|Atxn3|ataxin 3 [Source:MGI Symbol;Acc:MGI:1099442]|Heterozygous|Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker.|A|T|136|39.0|Non-synonymous|Alive
6573569|IGL01393|5|9589856|D->G|0.09|Benign|MGI:1351340|Grm3|glutamate receptor, metabotropic 3 [Source:MGI Symbol;Acc:MGI:1351340]|Heterozygous|Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior.|T|C|98|38.0|Non-synonymous|Alive
6573570|IGL01393|5|138807271|Y->C|1.0|Probably damaging|MGI:2136853|Fam20c|family with sequence similarity 20, member C [Source:MGI Symbol;Acc:MGI:2136853]|Heterozygous||A|G|96|35.5|Non-synonymous|Alive
6573571|IGL01393|14|51764213|I->L||Benign|MGI:2656551|Ang4|angiogenin, ribonuclease A family, member 4 [Source:MGI Symbol;Acc:MGI:2656551]|Heterozygous||T|A|92|39.0|Non-synonymous|Alive
6573572|IGL01393|16|57572223|N->S|1.0|Probably damaging|MGI:1925999, MGI:1913747|Cmss1,filip1l|cms small ribosomal subunit 1 [Source:MGI Symbol;Acc:MGI:1913747],filamin A interacting protein 1-like [Source:MGI Symbol;Acc:MGI:1925999]|Heterozygous||A|G|92|39.0|Non-synonymous|Alive
6573574|IGL01393|2|59347925|D->V|1.0|Probably damaging|MGI:109281|Pkp4|plakophilin 4 [Source:MGI Symbol;Acc:MGI:109281]|Heterozygous|An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age.|A|T|87|39.0|Non-synonymous|Alive
6573575|IGL01393|13|65294474|V->A|||MGI:2176229|Zfp369|zinc finger protein 369 [Source:MGI Symbol;Acc:MGI:2176229]|Heterozygous||T|C|83|38.0|Non-synonymous|Alive
6573576|IGL01393|3|56005308|M->I||Benign|MGI:1347075|Nbea|neurobeachin [Source:MGI Symbol;Acc:MGI:1347075]|Heterozygous|Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.|C|A|81|39.0|Non-synonymous|Alive
6573577|IGL01393|7|106806435|G->E|0.16|Benign|MGI:3030534|Olfr700|olfactory receptor 700 [Source:MGI Symbol;Acc:MGI:3030534]|Heterozygous||C|T|80|40.5|Non-synonymous|Alive
6573578|IGL01393|5|127784638|S->R|0.99|Probably damaging|MGI:3044963|Tmem132d|transmembrane protein 132D [Source:MGI Symbol;Acc:MGI:3044963]|Heterozygous||A|T|79|39.0|Non-synonymous|Alive
6573579|IGL01393|1|38092063|V->A|0.3|Benign|MGI:1929074|Rev1|REV1 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1929074]|Heterozygous|Mice homozygous for a knock-in allele exhibit abnormal somatic hypermutation frequency of the Ig gene. Mice homozygous for a knock-out allele exhibit background-sensitive prenatal lethality and abnormal somatic hypermutation frequency.|A|G|77|38.0|Non-synonymous|Alive
6573580|IGL01393|5|138194774|N->S|0.18|Benign|MGI:2679717|Mblac1|metallo-beta-lactamase domain containing 1 [Source:MGI Symbol;Acc:MGI:2679717]|Heterozygous||A|G|77|35.0|Non-synonymous|Alive
6573581|IGL01393|15|76694544|S->P||Benign|MGI:1920312|Ppp1r16a|protein phosphatase 1, regulatory (inhibitor) subunit 16A [Source:MGI Symbol;Acc:MGI:1920312]|Heterozygous||T|C|69|37.0|Non-synonymous|Alive
6573582|IGL01393|6|25744631|R->Stop||N/A|MGI:2141503|Pot1a|protection of telomeres 1A [Source:MGI Symbol;Acc:MGI:2141503]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality and lack inner cell mass. Mice homozygous for a knock-out allele exhibit prenatal lethality.|G|A|65|39.0|Non-synonymous|Alive
6573583|IGL01393|8|4103154|N->S|||MGI:1916392|Cd209f|CD209f antigen [Source:MGI Symbol;Acc:MGI:1916392]|Heterozygous||T|C|65|37.0|Non-synonymous|Alive
6573584|IGL01393|2|126594661|V->A|0.1|Benign|MGI:96062|Hdc|histidine decarboxylase [Source:MGI Symbol;Acc:MGI:96062]|Heterozygous||A|G|63|38.0|Non-synonymous|Alive
6573585|IGL01393|7|79931840|V->A|0.87|Possibly damaging|MGI:1917670|2610034b18rik|RIKEN cDNA 2610034B18 gene [Source:MGI Symbol;Acc:MGI:1917670]|Heterozygous||A|G|59|35.0|Non-synonymous|Alive
6573586|IGL01393|7|48448006|A->S|0.04|Benign|MGI:3033115|Mrgprb1|MAS-related GPR, member B1 [Source:MGI Symbol;Acc:MGI:3033115]|Heterozygous||C|A|53|39.0|Non-synonymous|Alive
6573587|IGL01393|X|43591356|A->V|1.0|Probably damaging|MGI:2685208|Gm362|predicted gene 362 [Source:MGI Symbol;Acc:MGI:2685208]|Heterozygous||C|T|52|35.5|Non-synonymous|Alive
6573588|IGL01393|7|140811928|G->E|1.0|Probably damaging|MGI:3039601|Zfp941|zinc finger protein 941 [Source:MGI Symbol;Acc:MGI:3039601]|Heterozygous||C|T|51|38.0|Non-synonymous|Alive
6573589|IGL01393|18|65307708|S->P|||MGI:2449492|Alpk2|alpha-kinase 2 [Source:MGI Symbol;Acc:MGI:2449492]|Heterozygous||A|G|46|40.0|Non-synonymous|Alive
6573590|IGL01393|3|100027610|T->A|||MGI:1921612|Spag17|sperm associated antigen 17 [Source:MGI Symbol;Acc:MGI:1921612]|Heterozygous||A|G|45|39.0|Non-synonymous|Alive
6573591|IGL01393|2|168087378|S->T||Benign|MGI:2135605|Pard6b|par-6 (partitioning defective 6) homolog beta (C. elegans) [Source:MGI Symbol;Acc:MGI:2135605]|Heterozygous||T|A|43|39.0|Non-synonymous|Alive
6573592|IGL01393|2|127432651|E->G|1.0|Probably damaging|MGI:2684962|Gpat2|glycerol-3-phosphate acyltransferase 2, mitochondrial [Source:MGI Symbol;Acc:MGI:2684962]|Heterozygous||A|G|41|38.0|Non-synonymous|Alive
6573593|IGL01393|16|44366630|I->M||Benign|MGI:1196252|Spice1|spindle and centriole associated protein 1 [Source:MGI Symbol;Acc:MGI:1196252]|Heterozygous||A|G|36|39.5|Non-synonymous|Alive
6573594|IGL01393|10|94298442|L->P||Unknown|MGI:3648918|Gm4792|predicted gene 4792 [Source:MGI Symbol;Acc:MGI:3648918]|Heterozygous||A|G|35|39.0|Non-synonymous|Alive
6573595|IGL01393|1|104934244|R->G||Benign|MGI:1346069|Cdh20|cadherin 20 [Source:MGI Symbol;Acc:MGI:1346069]|Heterozygous||A|G|34|39.0|Non-synonymous|Alive
6573596|IGL01393|1|34167625|Y->F|0.39|Benign|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|A|T|30|39.0|Non-synonymous|Alive
6573597|IGL01393|15|48457599|V->I|0.07|Benign|MGI:2386403|Csmd3|CUB and Sushi multiple domains 3 [Source:MGI Symbol;Acc:MGI:2386403]|Heterozygous||C|T|28|40.0|Non-synonymous|Alive
6573598|IGL01393|5|76858971|S->P||Benign|MGI:2444817|C530008m17rik|RIKEN cDNA C530008M17 gene [Source:MGI Symbol;Acc:MGI:2444817]|Heterozygous||T|C|26|38.0|Non-synonymous|Alive
6573599|IGL01393|6|132626614|Q->K||Unknown|MGI:2686534|A630073d07rik|RIKEN cDNA A630073D07 gene [Source:MGI Symbol;Acc:MGI:2686534]|Heterozygous||G|T|26|37.0|Non-synonymous|Alive
6573600|IGL01393|9|73540270|I->F|0.21|Benign|MGI:2149021|Unc13c|unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]|Heterozygous|Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.|T|A|26|35.5|Non-synonymous|Alive
6573601|IGL01393|11|21147400|V->A|0.5|Possibly damaging|MGI:1914495|Peli1|pellino 1 [Source:MGI Symbol;Acc:MGI:1914495]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced proinflammatory cytokine production, B cell proliferation, and mortality following treatment with LPS or pIpC.|T|C|24|40.0|Non-synonymous|Alive
6573602|IGL01393|9|85844092|V->E||Unknown|MGI:1341264|Tpbg|trophoblast glycoprotein [Source:MGI Symbol;Acc:MGI:1341264]|Heterozygous|Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation.|T|A|23|35.0|Non-synonymous|Alive
6573603|IGL01393|1|189000290|I->V|1.0|Probably damaging|MGI:2444629|Kctd3|potassium channel tetramerisation domain containing 3 [Source:MGI Symbol;Acc:MGI:2444629]|Heterozygous||T|C|19|39.0|Non-synonymous|Alive
6573604|IGL01393|11|102025478|L->Q|1.0|Probably damaging|MGI:1328354|Mpp3|membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) [Source:MGI Symbol;Acc:MGI:1328354]|Heterozygous||A|T|19|40.0|Non-synonymous|Alive
6573605|IGL01393|4|88722344|R->H|||MGI:2180122|Ensmusg00000070923|MCG148054 [Source:UniProtKB/TrEMBL;Acc:Q8CAC1]|Heterozygous||G|A|17|35.0|Non-synonymous|Alive
6573606|IGL01393|11|55269309|D->G||Benign|MGI:2685369|Fat2|FAT tumor suppressor homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685369]|Heterozygous||T|C|13|39.0|Non-synonymous|Alive
6573607|IGL01393|X|71967517|V->A||Benign|MGI:2685214|Prrg3|proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) [Source:MGI Symbol;Acc:MGI:2685214]|Heterozygous||T|C|13|35.0|Non-synonymous|Alive
6573608|IGL01393|2|120350238|Disrupted splicing|||MGI:2443189|Vps39|vacuolar protein sorting 39 (yeast) [Source:MGI Symbol;Acc:MGI:2443189]|Heterozygous||A|G|76|38.5|Splice|Alive
6573609|IGL01393|2|163551572|Disrupted splicing|||MGI:109128|Hnf4a|hepatic nuclear factor 4, alpha [Source:MGI Symbol;Acc:MGI:109128]|Heterozygous||T|C|69|37.0|Splice|Alive
6573610|IGL01393|6|113577360|Disrupted splicing|||MGI:2448480|Fancd2|Fanconi anemia, complementation group D2 [Source:MGI Symbol;Acc:MGI:2448480]|Heterozygous|Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia.|T|A|63|39.0|Splice|Alive
6573611|IGL01393|8|109709478|Disrupted splicing|||MGI:1923121|Zfp821|zinc finger protein 821 [Source:MGI Symbol;Acc:MGI:1923121]|Heterozygous||T|A|48|38.0|Splice|Alive
6573612|IGL01393|4|64014054|Disrupted splicing|||MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|A|G|44|39.0|Splice|Alive
6573613|IGL01393|2|32955173|Disrupted splicing|||MGI:2684789|Lrsam1|leucine rich repeat and sterile alpha motif containing 1 [Source:MGI Symbol;Acc:MGI:2684789]|Heterozygous||A|T|39|37.0|Splice|Alive
6573614|IGL01393|17|24059318|Disrupted splicing|||MGI:1916509|Kctd5|potassium channel tetramerisation domain containing 5 [Source:MGI Symbol;Acc:MGI:1916509]|Heterozygous||A|T|23|38.0|Splice|Alive
6573615|IGL01393|6|60960708|Disrupted splicing|||MGI:1918195|Mmrn1|multimerin 1 [Source:MGI Symbol;Acc:MGI:1918195]|Heterozygous||T|A|21|41.0|Splice|Alive
6573616|IGL01393|5|112438395|Disrupted splicing|||MGI:1935121|Sez6l|seizure related 6 homolog like [Source:MGI Symbol;Acc:MGI:1935121]|Heterozygous|Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task.|G|T|17|40.0|Splice|Alive
6574219|IGL01394|9|109717989|Y->C||Benign|MGI:3646662|Fbxw26|F-box and WD-40 domain protein 26 [Source:MGI Symbol;Acc:MGI:3646662]|Heterozygous||T|C|441|40.0|Non-synonymous|Alive
6574221|IGL01394|4|149634782|N->S|1.0|Probably damaging|MGI:1929895|Clstn1|calsyntenin 1 [Source:MGI Symbol;Acc:MGI:1929895]|Heterozygous||A|G|117|37.0|Non-synonymous|Alive
6574222|IGL01394|10|97568972|D->V|1.0|Probably damaging|MGI:109347|Lum|lumican [Source:MGI Symbol;Acc:MGI:109347]|Heterozygous|Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity.|A|T|94|38.0|Non-synonymous|Alive
6574223|IGL01394|1|174158857|F->S|1.0|Probably damaging|MGI:3030254|Olfr420|olfactory receptor 420 [Source:MGI Symbol;Acc:MGI:3030254]|Heterozygous||T|C|87|39.0|Non-synonymous|Alive
6574224|IGL01394|17|35153104|V->A|0.71|Possibly damaging|MGI:1915467|Prrc2a|proline-rich coiled-coil 2A [Source:MGI Symbol;Acc:MGI:1915467]|Heterozygous||A|G|81|39.0|Non-synonymous|Alive
6574225|IGL01394|5|141613215|H->Y||Benign|MGI:2444413|Sdk1|sidekick homolog 1 (chicken) [Source:MGI Symbol;Acc:MGI:2444413]|Heterozygous||C|T|81|38.0|Non-synonymous|Alive
6574226|IGL01394|4|81292491|V->D|0.44|Possibly damaging|MGI:1343489|Mpdz|multiple PDZ domain protein [Source:MGI Symbol;Acc:MGI:1343489]|Heterozygous||A|T|80|38.0|Non-synonymous|Alive
6574227|IGL01394|10|76039663|Q->K|0.68|Possibly damaging|MGI:1927865|Zfp280b|zinc finger protein 280B [Source:MGI Symbol;Acc:MGI:1927865]|Heterozygous||C|A|74|39.0|Non-synonymous|Alive
6574228|IGL01394|2|120706327|E->G|||MGI:3045258|Stard9|START domain containing 9 [Source:MGI Symbol;Acc:MGI:3045258]|Heterozygous||A|G|71|37.0|Non-synonymous|Alive
6574229|IGL01394|12|72308416|D->G|0.01|Benign|MGI:1933947|Rtn1|reticulon 1 [Source:MGI Symbol;Acc:MGI:1933947]|Heterozygous||T|C|69|37.0|Non-synonymous|Alive
6574230|IGL01394|18|12531926|D->E|0.04|Benign|MGI:99909|Lama3|laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]|Heterozygous|Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.|T|A|66|40.0|Non-synonymous|Alive
6574231|IGL01394|12|100061662|V->A|0.01|Benign|MGI:2384976|Kcnk13|potassium channel, subfamily K, member 13 [Source:MGI Symbol;Acc:MGI:2384976]|Heterozygous||T|C|65|35.0|Non-synonymous|Alive
6574232|IGL01394|10|102385114|T->A|0.13|Benign|MGI:1914819|Mgat4c|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) [Source:MGI Symbol;Acc:MGI:1914819]|Heterozygous||A|G|62|39.0|Non-synonymous|Alive
6574233|IGL01394|16|36931564|E->G|1.0|Probably damaging|MGI:1099447|Golgb1|golgi autoantigen, golgin subfamily b, macrogolgin 1 [Source:MGI Symbol;Acc:MGI:1099447]|Heterozygous||A|G|60|38.0|Non-synonymous|Alive
6574234|IGL01394|7|139666979|Y->H|||MGI:2444387|9330101j02rik|RIKEN cDNA 9330101J02 gene [Source:MGI Symbol;Acc:MGI:2444387]|Heterozygous||A|G|60|37.0|Non-synonymous|Alive
6574235|IGL01394|17|25094702|D->G||Benign|MGI:2146906|Ift140|intraflagellar transport 140 [Source:MGI Symbol;Acc:MGI:2146906]|Heterozygous||A|G|59|39.0|Non-synonymous|Alive
6574236|IGL01394|10|116822687|Q->R|0.02|Benign|MGI:2685085|Gm239|predicted gene 239 [Source:MGI Symbol;Acc:MGI:2685085]|Heterozygous||T|C|57|37.0|Non-synonymous|Alive
6574237|IGL01394|17|84557430|T->I|0.38|Benign|MGI:2146813|Plekhh2|pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 [Source:MGI Symbol;Acc:MGI:2146813]|Heterozygous||C|T|56|39.0|Non-synonymous|Alive
6574238|IGL01394|12|64473804|I->K|0.92|Possibly damaging|MGI:3646964|Fscb|fibrous sheath CABYR binding protein [Source:MGI Symbol;Acc:MGI:3646964]|Heterozygous||A|T|54|38.0|Non-synonymous|Alive
6574239|IGL01394|19|55309892|W->R|0.86|Possibly damaging|MGI:1914230|Zdhhc6|zinc finger, DHHC domain containing 6 [Source:MGI Symbol;Acc:MGI:1914230]|Heterozygous||A|G|54|37.0|Non-synonymous|Alive
6574240|IGL01394|16|36810566|P->S|1.0|Probably damaging|MGI:2146616|Eaf2|ELL associated factor 2 [Source:MGI Symbol;Acc:MGI:2146616]|Heterozygous|Mice homozygous for a null allele exhibit premature death, enlarged heart and prostate associate with hypertrophy, and increased incidence of tumors.|G|A|52|39.0|Non-synonymous|Alive
6574241|IGL01394|8|70889388|Y->Stop||N/A|MGI:2149330|Slc5a5|solute carrier family 5 (sodium iodide symporter), member 5 [Source:MGI Symbol;Acc:MGI:2149330]|Heterozygous||G|T|49|37.0|Non-synonymous|Alive
6574242|IGL01394|12|84075488|I->T||Benign|MGI:2384969|Acot5|acyl-CoA thioesterase 5 [Source:MGI Symbol;Acc:MGI:2384969]|Heterozygous||T|C|48|40.0|Non-synonymous|Alive
6574243|IGL01394|15|77955620|T->A|0.21|Benign|MGI:106315|Foxred2|FAD-dependent oxidoreductase domain containing 2 [Source:MGI Symbol;Acc:MGI:106315]|Heterozygous||T|C|48|37.5|Non-synonymous|Alive
6574244|IGL01394|9|38349805|S->T|0.93|Possibly damaging|MGI:3030732|Olfr898|olfactory receptor 898 [Source:MGI Symbol;Acc:MGI:3030732]|Heterozygous||T|A|48|37.0|Non-synonymous|Alive
6574245|IGL01394|9|95123037|L->Q||Benign|MGI:2679732|Slc9a9|solute carrier family 9 (sodium/hydrogen exchanger), member 9 [Source:MGI Symbol;Acc:MGI:2679732]|Heterozygous||T|A|47|39.0|Non-synonymous|Alive
6574246|IGL01394|10|99445562|H->R|0.97|Probably damaging|MGI:95633|Gad1-ps|glutamate decarboxylase 1, pseudogene [Source:MGI Symbol;Acc:MGI:95633]|Heterozygous||A|G|44|38.5|Non-synonymous|Alive
6574247|IGL01394|17|34200729|V->L|0.91|Possibly damaging|MGI:1346527|Psmb8|proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7) [Source:MGI Symbol;Acc:MGI:1346527]|Heterozygous|Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens.|G|T|41|40.0|Non-synonymous|Alive
6574248|IGL01394|7|131146231|Q->Stop||N/A|MGI:1914681|4933402n03rik|RIKEN cDNA 4933402N03 gene [Source:MGI Symbol;Acc:MGI:1914681]|Heterozygous||G|A|41|39.0|Non-synonymous|Alive
6574249|IGL01394|12|102373603|V->A|1.0|Probably damaging|MGI:2385708|Rin3|Ras and Rab interactor 3 [Source:MGI Symbol;Acc:MGI:2385708]|Heterozygous||T|C|39|38.0|Non-synonymous|Alive
6574250|IGL01394|7|45145513|S->A||Benign|MGI:1916998|Aldh16a1|aldehyde dehydrogenase 16 family, member A1 [Source:MGI Symbol;Acc:MGI:1916998]|Heterozygous||A|C|39|37.0|Non-synonymous|Alive
6574251|IGL01394|13|68982402|V->A|0.86|Possibly damaging|MGI:99676|Adcy2|adenylate cyclase 2 [Source:MGI Symbol;Acc:MGI:99676]|Heterozygous||A|G|38|40.0|Non-synonymous|Alive
6574252|IGL01394|15|82025661|K->R|0.99|Probably damaging|MGI:95606|Xrcc6|X-ray repair complementing defective repair in Chinese hamster cells 6 [Source:MGI Symbol;Acc:MGI:95606]|Heterozygous|Mice homozygous for a knock-out allele exhibit neuron apoptosis, decreased body size, abnormal B and T cell morphology, increased incidence of tumorigenesis, and increased cellular sensitivity to irradiation.|A|G|35|37.0|Non-synonymous|Alive
6574253|IGL01394|7|134766216|N->S||Benign|MGI:2429765|Dock1|dedicator of cytokinesis 1 [Source:MGI Symbol;Acc:MGI:2429765]|Heterozygous|Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.|A|G|35|37.0|Non-synonymous|Alive
6574254|IGL01394|17|32797820|K->N|1.0|Probably damaging|MGI:2682944|Zfp811|zinc finger protein 811 [Source:MGI Symbol;Acc:MGI:2682944]|Heterozygous||C|A|34|39.0|Non-synonymous|Alive
6574255|IGL01394|9|65310213|V->A|1.0|Probably damaging|MGI:1346017|Clpx|caseinolytic peptidase X (E.coli) [Source:MGI Symbol;Acc:MGI:1346017]|Heterozygous||T|C|34|40.0|Non-synonymous|Alive
6574256|IGL01394|11|23867235|T->I||Benign|MGI:2442119|Papolg|poly(A) polymerase gamma [Source:MGI Symbol;Acc:MGI:2442119]|Heterozygous||G|A|33|40.0|Non-synonymous|Alive
6574257|IGL01394|15|38009631|D->G|0.03|Benign|MGI:1918040|Ubr5|ubiquitin protein ligase E3 component n-recognin 5 [Source:MGI Symbol;Acc:MGI:1918040]|Heterozygous|Homozygous null mice display embryonic lethality during organogenesis, impaired growth of the allantois, failure or impairment of chorioallantoic fusion, impaired angiogenesis in the yolk sac and allantois, decreased cell proliferation, and increased apoptosis.|T|C|33|40.0|Non-synonymous|Alive
6574258|IGL01394|X|52942637|V->E|1.0|Probably damaging|MGI:1918248|Phf6|PHD finger protein 6 [Source:MGI Symbol;Acc:MGI:1918248]|Heterozygous||T|A|33|37.0|Non-synonymous|Alive
6574259|IGL01394|5|140352179|G->V||Benign|MGI:2443816|Snx8|sorting nexin 8 [Source:MGI Symbol;Acc:MGI:2443816]|Heterozygous||C|A|30|38.0|Non-synonymous|Alive
6574260|IGL01394|7|90224001|E->G|1.0|Probably damaging|MGI:1918255|Ccdc83|coiled-coil domain containing 83 [Source:MGI Symbol;Acc:MGI:1918255]|Heterozygous||T|C|26|39.0|Non-synonymous|Alive
6574262|IGL01394|16|20162032|V->A|0.98|Probably damaging|MGI:2447762|Yeats2|YEATS domain containing 2 [Source:MGI Symbol;Acc:MGI:2447762]|Heterozygous||T|C|16|37.0|Non-synonymous|Alive
6574263|IGL01394|9|57795034|E->G|0.56|Possibly damaging|MGI:1930768|Arid3b|AT rich interactive domain 3B (BRIGHT-like) [Source:MGI Symbol;Acc:MGI:1930768]|Heterozygous|Mice homozygous for a knock-out allele die before E11.5 displaying variable phenotypes associated with impaired generation of cranial-mesenchymal cells in the first and second branchial arches. Common defects include a wavy neural tube, small branchial arches, and a defective cardiovascular system.|T|C|14|40.5|Non-synonymous|Alive
6574264|IGL01394|10|128118645|V->A|||MGI:2151152|Baz2a|bromodomain adjacent to zinc finger domain, 2A [Source:MGI Symbol;Acc:MGI:2151152]|Heterozygous||T|C|11|39.0|Non-synonymous|Alive
6574266|IGL01394|2|84605256|Disrupted splicing|||MGI:105100|Ctnnd1|catenin (cadherin associated protein), delta 1 [Source:MGI Symbol;Acc:MGI:105100]|Heterozygous|Mice homozygous for disruptions of this gene die shortly after birth and have morphological abnormalities of the salivary glands and lacrimal gland.|A|G|141|40.0|Splice|Alive
6574267|IGL01394|5|73679345|Disrupted splicing|||MGI:1920722|Spata18|spermatogenesis associated 18 [Source:MGI Symbol;Acc:MGI:1920722]|Heterozygous||T|A|103|37.0|Splice|Alive
6574268|IGL01394|3|141862981|Disrupted splicing|||MGI:107191|Bmpr1b|bone morphogenetic protein receptor, type 1B [Source:MGI Symbol;Acc:MGI:107191]|Heterozygous|Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities.|A|G|49|37.0|Splice|Alive
6574269|IGL01394|1|158765104|Disrupted splicing|||MGI:3051647|Pappa2|pappalysin 2 [Source:MGI Symbol;Acc:MGI:3051647]|Heterozygous||G|A|34|38.5|Splice|Alive
6574270|IGL01394|2|6040213|Disrupted splicing|||MGI:2449307|Upf2|UPF2 regulator of nonsense transcripts homolog (yeast) [Source:MGI Symbol;Acc:MGI:2449307]|Heterozygous|Mice homozygous for a knock-out allele exhibit early embryonic lethality.|A|G|20|40.5|Splice|Alive
6574884|IGL01395|9|106858162|V->I|0.89|Possibly damaging|MGI:2445220|Vprbp|Vpr (HIV-1) binding protein [Source:MGI Symbol;Acc:MGI:2445220]|Heterozygous|Embryos homozygous for a knock-out allele die prior to E7.5.|G|A|168|39.0|Non-synonymous|Alive
6574885|IGL01395|6|42405912|C->Stop||N/A|MGI:2681302|Tas2r135|taste receptor, type 2, member 135 [Source:MGI Symbol;Acc:MGI:2681302]|Heterozygous||T|A|120|39.5|Non-synonymous|Alive
6574886|IGL01395|11|102480708|H->R||Unknown|MGI:1918667|Gpatch8|G patch domain containing 8 [Source:MGI Symbol;Acc:MGI:1918667]|Heterozygous||T|C|109|39.0|Non-synonymous|Alive
6574887|IGL01395|11|74364887|F->L|0.26|Benign|MGI:3030246|Olfr412|olfactory receptor 412 [Source:MGI Symbol;Acc:MGI:3030246]|Heterozygous||T|C|99|40.0|Non-synonymous|Alive
6574888|IGL01395|11|100703926|G->D|0.99|Probably damaging|MGI:1931560|Dhx58|DEXH (Asp-Glu-X-His) box polypeptide 58 [Source:MGI Symbol;Acc:MGI:1931560]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased susceptibility to EMCV infection and decreased susceptibility to VSV infection.|C|T|94|38.0|Non-synonymous|Alive
6574889|IGL01395|19|10901011|T->I|0.93|Possibly damaging|MGI:106247|Prpf19|PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:106247]|Heterozygous|Mice homozygous for a null allele die prior to implantation and have defective cell proliferation.|C|T|73|40.0|Non-synonymous|Alive
6574890|IGL01395|18|69985217|K->E||Benign|MGI:1931295|Rab27b|RAB27b, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1931295]|Heterozygous|Mice homozygous for one null allele exhibit impaired platelet aggregation.|T|C|72|39.0|Non-synonymous|Alive
6574892|IGL01395|16|59202097|T->S|1.0|Probably damaging|MGI:3030032|Olfr198|olfactory receptor 198 [Source:MGI Symbol;Acc:MGI:3030032]|Heterozygous||T|A|59|38.0|Non-synonymous|Alive
6574893|IGL01395|2|150801583|Q->K|0.02|Benign|MGI:97828|Pygb|brain glycogen phosphorylase [Source:MGI Symbol;Acc:MGI:97828]|Heterozygous||C|A|59|38.0|Non-synonymous|Alive
6574894|IGL01395|6|57513958|H->R||Benign|MGI:2442111|Ppm1k|protein phosphatase 1K (PP2C domain containing) [Source:MGI Symbol;Acc:MGI:2442111]|Heterozygous|Mice homozygous for a null allele exhibit defective amino acid metabolism, increased oxidative stress, and increased mortality when subjected to a high-protein diet while in utero and during postnatal development.|T|C|55|37.0|Non-synonymous|Alive
6574895|IGL01395|7|144457727|V->A|0.36|Benign|MGI:99695|Cttn|cortactin [Source:MGI Symbol;Acc:MGI:99695]|Heterozygous|Mice homozygous for one knock-out allele exhibit abnormal early zygote development and die prior to the 2-cell stage.|A|G|52|37.0|Non-synonymous|Alive
6574896|IGL01395|9|108983912|G->D||Unknown|MGI:88462|Col7a1|collagen, type VII, alpha 1 [Source:MGI Symbol;Acc:MGI:88462]|Heterozygous|Mice homozygous for this targeted mutation are postnatal lethal, exhibit a severe blistering phenotype, and provide an excellent mouse model for recessive dystrophic epidermolysis bullosa.|G|A|52|36.0|Non-synonymous|Alive
6574897|IGL01395|11|103503861|V->A||Unknown|MGI:2685097|Lrrc37a|leucine rich repeat containing 37A [Source:MGI Symbol;Acc:MGI:2685097]|Heterozygous||A|G|49|39.0|Non-synonymous|Alive
6574898|IGL01395|7|97378176|Y->N|0.05|Benign|MGI:2141959|Alg8|asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase) [Source:MGI Symbol;Acc:MGI:2141959]|Heterozygous||T|A|47|38.0|Non-synonymous|Alive
6574899|IGL01395|3|122817955|I->T|0.21|Benign|MGI:2651499|Pde5a|phosphodiesterase 5A, cGMP-specific [Source:MGI Symbol;Acc:MGI:2651499]|Heterozygous||T|C|46|38.0|Non-synonymous|Alive
6574900|IGL01395|7|112323585|M->K|0.98|Probably damaging|MGI:2444947|Mical2|microtubule associated monoxygenase, calponin and LIM domain containing 2 [Source:MGI Symbol;Acc:MGI:2444947]|Heterozygous||T|A|42|39.5|Non-synonymous|Alive
6574901|IGL01395|2|57112153|Q->L|0.07|Benign|MGI:1352456|Nr4a2|nuclear receptor subfamily 4, group A, member 2 [Source:MGI Symbol;Acc:MGI:1352456]|Heterozygous|Mice homozygous for disruptions in this gene fail to develop dopaminergic neurons in the mesencephalon and die within the first 12 hours of life. Heterozygotes suffer from reduced motor performance in old age.|T|A|41|37.0|Non-synonymous|Alive
6574902|IGL01395|8|84912815|D->G|0.08|Benign|MGI:1861901|Mast1|microtubule associated serine/threonine kinase 1 [Source:MGI Symbol;Acc:MGI:1861901]|Heterozygous||T|C|41|39.0|Non-synonymous|Alive
6574903|IGL01395|19|13838952|S->T|0.93|Possibly damaging|MGI:3031335|Olfr1501|olfactory receptor 1501 [Source:MGI Symbol;Acc:MGI:3031335]|Heterozygous||A|T|40|39.0|Non-synonymous|Alive
6574904|IGL01395|8|76908848|S->P||Benign|MGI:99459|Nr3c2|nuclear receptor subfamily 3, group C, member 2 [Source:MGI Symbol;Acc:MGI:99459]|Heterozygous|Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration.|T|C|40|38.0|Non-synonymous|Alive
6574905|IGL01395|19|41256276|E->G|1.0|Probably damaging|MGI:1914262|Tm9sf3|transmembrane 9 superfamily member 3 [Source:MGI Symbol;Acc:MGI:1914262]|Heterozygous||T|C|37|37.0|Non-synonymous|Alive
6574906|IGL01395|13|3361242|A->T|||MGI:3642261|Ac122379.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QPN4]|Heterozygous||G|A|36|35.0|Non-synonymous|Alive
6574907|IGL01395|1|52011874|R->W|1.0|Probably damaging|MGI:103062|Stat4|signal transducer and activator of transcription 4 [Source:MGI Symbol;Acc:MGI:103062]|Heterozygous||C|T|34|40.0|Non-synonymous|Alive
6574908|IGL01395|2|84368575|I->V|0.13|Benign|MGI:1926944|Calcrl|calcitonin receptor-like [Source:MGI Symbol;Acc:MGI:1926944]|Heterozygous|Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increase in apoptosis.|T|C|34|39.0|Non-synonymous|Alive
6574909|IGL01395|6|65870390|H->R|0.13|Benign|MGI:1918029|Prdm5|PR domain containing 5 [Source:MGI Symbol;Acc:MGI:1918029]|Heterozygous||A|G|33|37.0|Non-synonymous|Alive
6574910|IGL01395|6|136698029|Q->K|1.0|Probably damaging|MGI:106903|Gucy2c|guanylate cyclase 2c [Source:MGI Symbol;Acc:MGI:106903]|Heterozygous|Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins.|G|T|32|38.0|Non-synonymous|Alive
6574911|IGL01395|1|38037258|I->T|0.6|Possibly damaging|MGI:2441772|Eif5b|eukaryotic translation initiation factor 5B [Source:MGI Symbol;Acc:MGI:2441772]|Heterozygous||T|C|30|40.5|Non-synonymous|Alive
6574912|IGL01395|18|89129770|N->K|0.42|Benign|MGI:2179288|Rttn|rotatin [Source:MGI Symbol;Acc:MGI:2179288]|Heterozygous|Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart.|T|G|30|38.0|Non-synonymous|Alive
6574913|IGL01395|17|30636005|F->I|0.01|Benign|MGI:107714|Dnahc8|dynein, axonemal, heavy chain 8 [Source:MGI Symbol;Acc:MGI:107714]|Heterozygous||T|A|28|39.5|Non-synonymous|Alive
6574914|IGL01395|18|67442810|R->H|0.3|Benign|MGI:1916847|Afg3l2|AFG3(ATPase family gene 3)-like 2 (yeast) [Source:MGI Symbol;Acc:MGI:1916847]|Heterozygous|Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates.|C|T|28|40.0|Non-synonymous|Alive
6574915|IGL01395|3|116901005|I->V||Benign|MGI:108076|Frrs1|ferric-chelate reductase 1 [Source:MGI Symbol;Acc:MGI:108076]|Heterozygous||A|G|27|39.0|Non-synonymous|Alive
6574916|IGL01395|9|118535373|G->D|1.0|Probably damaging|MGI:1859646|Golga4|golgi autoantigen, golgin subfamily a, 4 [Source:MGI Symbol;Acc:MGI:1859646]|Heterozygous||G|A|27|38.0|Non-synonymous|Alive
6574917|IGL01395|3|89092421|Q->R|0.02|Benign|MGI:1919546|Rusc1|RUN and SH3 domain containing 1 [Source:MGI Symbol;Acc:MGI:1919546]|Heterozygous||T|C|24|37.5|Non-synonymous|Alive
6574918|IGL01395|1|36155077|D->G|1.0|Probably damaging|MGI:2443162|Uggt1|UDP-glucose glycoprotein glucosyltransferase 1 [Source:MGI Symbol;Acc:MGI:2443162]|Heterozygous||T|C|22|37.0|Non-synonymous|Alive
6574919|IGL01395|2|163339927|N->S||Benign|MGI:1891496|Jph2|junctophilin 2 [Source:MGI Symbol;Acc:MGI:1891496]|Heterozygous|Homozygotes for a targeted null mutation exhibit a deficiency of junctional membrane complexes in cardiac myocytes and die by embryonic day 10.5.|T|C|21|35.0|Non-synonymous|Alive
6574920|IGL01395|19|56361793|M->K|0.99|Probably damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||A|T|18|38.0|Non-synonymous|Alive
6574921|IGL01395|5|123511068|F->L|1.0|Probably damaging|MGI:2680208|B3gnt4|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Source:MGI Symbol;Acc:MGI:2680208]|Heterozygous||T|A|17|40.0|Non-synonymous|Alive
6574922|IGL01395|6|32239433|V->A|0.92|Possibly damaging|MGI:2179061|Plxna4|plexin A4 [Source:MGI Symbol;Acc:MGI:2179061]|Heterozygous|Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.|A|G|15|33.0|Non-synonymous|Alive
6574923|IGL01395|11|117723113|V->E|0.06|Benign|MGI:2443265|Tnrc6c|trinucleotide repeat containing 6C [Source:MGI Symbol;Acc:MGI:2443265]|Heterozygous||T|A|14|33.5|Non-synonymous|Alive
6574925|IGL01395|14|26616901|Y->Stop||N/A|MGI:2442980|Fam116a|family with sequence similarity 116, member A [Source:MGI Symbol;Acc:MGI:2442980]|Heterozygous||T|A|13|39.0|Non-synonymous|Alive
6574926|IGL01395|2|119071566|D->E|1.0|Probably damaging|MGI:1923714|Casc5|cancer susceptibility candidate 5 [Source:MGI Symbol;Acc:MGI:1923714]|Heterozygous||T|A|13|35.0|Non-synonymous|Alive
6574927|IGL01395|12|70460477|Disrupted splicing|||MGI:1919986|Tmx1|thioredoxin-related transmembrane protein 1 [Source:MGI Symbol;Acc:MGI:1919986]|Heterozygous||A|T|100|39.0|Splice|Alive
6574928|IGL01395|8|110990532|Disrupted splicing|||MGI:99526|Ddx19a|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19a [Source:MGI Symbol;Acc:MGI:99526]|Heterozygous||A|G|46|38.0|Splice|Alive
6574929|IGL01395|10|14132800|Disrupted splicing|||MGI:1338076|Hivep2|human immunodeficiency virus type I enhancer binding protein 2 [Source:MGI Symbol;Acc:MGI:1338076]|Heterozygous|Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation.|T|C|20|37.5|Splice|Alive
6575553|IGL01396|4|118610595|Y->C|1.0|Probably damaging|MGI:2686209|Wdr65|WD repeat domain 65 [Source:MGI Symbol;Acc:MGI:2686209]|Heterozygous||T|C|135|36.0|Non-synonymous|Alive
6575554|IGL01396|17|18257039|L->P|1.0|Probably damaging|MGI:3648050|Vmn2r94|vomeronasal 2, receptor 94 [Source:MGI Symbol;Acc:MGI:3648050]|Heterozygous||A|G|131|40.0|Non-synonymous|Alive
6575555|IGL01396|2|111754603|M->K|1.0|Probably damaging|MGI:3031135|Olfr1301|olfactory receptor 1301 [Source:MGI Symbol;Acc:MGI:3031135]|Heterozygous||T|A|122|39.0|Non-synonymous|Alive
6575556|IGL01396|2|111754503|F->L|0.17|Benign|MGI:3031135|Olfr1301|olfactory receptor 1301 [Source:MGI Symbol;Acc:MGI:3031135]|Heterozygous||T|C|106|39.0|Non-synonymous|Alive
6575557|IGL01396|4|88820077|V->A||Benign|MGI:109210|Ifna11|interferon alpha 11 [Source:MGI Symbol;Acc:MGI:109210]|Heterozygous||T|C|94|39.0|Non-synonymous|Alive
6575558|IGL01396|3|101591453|G->R|1.0|Probably damaging|MGI:88105|Atp1a1|ATPase, Na+/K+ transporting, alpha 1 polypeptide [Source:MGI Symbol;Acc:MGI:88105]|Heterozygous|Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment.|C|T|89|37.0|Non-synonymous|Alive
6575559|IGL01396|4|126869378|V->D||Unknown|MGI:2140475, MGI:1915035|Zmym4,au040320|expressed sequence AU040320 [Source:MGI Symbol;Acc:MGI:2140475],zinc finger, MYM-type 4 [Source:MGI Symbol;Acc:MGI:1915035]|Heterozygous||T|A|82|37.0|Non-synonymous|Alive
6575560|IGL01396|4|58068552|E->G|0.22|Benign|MGI:1928849|Svep1|sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Source:MGI Symbol;Acc:MGI:1928849]|Heterozygous||T|C|77|38.0|Non-synonymous|Alive
6575561|IGL01396|19|11923883|K->R|0.97|Probably damaging|MGI:2147679|Patl1|protein associated with topoisomerase II homolog 1 (yeast) [Source:MGI Symbol;Acc:MGI:2147679]|Heterozygous||A|G|75|39.0|Non-synonymous|Alive
6575562|IGL01396|13|97953893|D->E|||MGI:1346016|Rgnef|Rho-guanine nucleotide exchange factor [Source:MGI Symbol;Acc:MGI:1346016]|Heterozygous||G|T|74|39.0|Non-synonymous|Alive
6575563|IGL01396|1|67157786|I->T|1.0|Probably damaging|MGI:891996|Cps1|carbamoyl-phosphate synthetase 1 [Source:MGI Symbol;Acc:MGI:891996]|Heterozygous|Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.|T|C|71|39.0|Non-synonymous|Alive
6575564|IGL01396|11|77472372|I->F|0.99|Probably damaging|MGI:2144501|Ankrd13b|ankyrin repeat domain 13b [Source:MGI Symbol;Acc:MGI:2144501]|Heterozygous||T|A|68|36.0|Non-synonymous|Alive
6575565|IGL01396|6|83369638|Y->Stop||N/A|MGI:2446229|Tet3|tet methylcytosine dioxygenase 3 [Source:MGI Symbol;Acc:MGI:2446229]|Heterozygous||A|T|62|38.0|Non-synonymous|Alive
6575566|IGL01396|7|105772283|L->P|0.56|Possibly damaging|MGI:2685011|Dchs1|dachsous 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2685011]|Heterozygous||A|G|62|39.5|Non-synonymous|Alive
6575567|IGL01396|12|31894096|D->G|0.31|Benign|MGI:2145130|Cog5|component of oligomeric golgi complex 5 [Source:MGI Symbol;Acc:MGI:2145130]|Heterozygous||A|G|60|39.0|Non-synonymous|Alive
6575568|IGL01396|1|30804305|Q->Stop||N/A|MGI:2446126|Phf3|PHD finger protein 3 [Source:MGI Symbol;Acc:MGI:2446126]|Heterozygous||G|A|59|37.0|Non-synonymous|Alive
6575569|IGL01396|1|152756266|I->K|0.42|Benign|MGI:1918531|Apobec4|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) [Source:MGI Symbol;Acc:MGI:1918531]|Heterozygous||T|A|51|39.0|Non-synonymous|Alive
6575570|IGL01396|9|119534704|S->T|0.9|Possibly damaging|MGI:98251|Scn5a|sodium channel, voltage-gated, type V, alpha [Source:MGI Symbol;Acc:MGI:98251]|Heterozygous|Mice homozygous for mutations in this gene die prenatally usually during organogenesis. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system.|A|T|48|36.0|Non-synonymous|Alive
6575571|IGL01396|6|37000090|N->S|0.02|Benign|MGI:2443430|Dgki|diacylglycerol kinase, iota [Source:MGI Symbol;Acc:MGI:2443430]|Heterozygous|Mice homozygous for a knock-out allele are grossly normal and do not develop tumors when wounded or when exposed to phorbol ester.|T|C|41|39.0|Non-synonymous|Alive
6575572|IGL01396|1|155098550|V->A|0.64|Possibly damaging|MGI:1337072|Ier5|immediate early response 5 [Source:MGI Symbol;Acc:MGI:1337072]|Heterozygous||A|G|35|36.0|Non-synonymous|Alive
6575573|IGL01396|2|87949863|F->L|0.81|Possibly damaging|MGI:3030990|Olfr1156|olfactory receptor 1156 [Source:MGI Symbol;Acc:MGI:3030990]|Heterozygous||G|T|34|38.0|Non-synonymous|Alive
6575574|IGL01396|9|107928765|S->P|0.32|Benign|MGI:1914972|Actl11|actin-like 11 [Source:MGI Symbol;Acc:MGI:1914972]|Heterozygous||T|C|34|37.0|Non-synonymous|Alive
6575575|IGL01396|17|35204085|H->Q|0.98|Probably damaging|MGI:104797|Lta|lymphotoxin A [Source:MGI Symbol;Acc:MGI:104797]|Heterozygous|Homozygotes for targeted null mutations exhibit absence of lymph nodes, Peyer's patches, and splenic germinal centers, impaired class switching and NK cell recruitment, and greater susceptibility to Mycobacterium bovis, influenza A, and Toxoplasma gondii.|A|T|33|39.0|Non-synonymous|Alive
6575576|IGL01396|2|88683231|C->Y|1.0|Probably damaging|MGI:3031029|Olfr1195|olfactory receptor 1195 [Source:MGI Symbol;Acc:MGI:3031029]|Heterozygous||C|T|33|40.0|Non-synonymous|Alive
6575577|IGL01396|9|14321078|T->A|0.21|Benign|MGI:1922997|Sesn3|sestrin 3 [Source:MGI Symbol;Acc:MGI:1922997]|Heterozygous||A|G|33|39.0|Non-synonymous|Alive
6575578|IGL01396|19|45234231|Q->K|0.01|Benign|MGI:104867|Lbx1|ladybird homeobox homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:104867]|Heterozygous|Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported.|G|T|32|37.5|Non-synonymous|Alive
6575579|IGL01396|7|130759189|I->N|0.43|Possibly damaging|MGI:1928899|Tacc2|transforming, acidic coiled-coil containing protein 2 [Source:MGI Symbol;Acc:MGI:1928899]|Heterozygous|Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis.|T|A|32|36.0|Non-synonymous|Alive
6575580|IGL01396|12|57159189|V->A||Benign|MGI:2445059|Slc25a21|solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 [Source:MGI Symbol;Acc:MGI:2445059]|Heterozygous||A|G|31|38.0|Non-synonymous|Alive
6575581|IGL01396|12|73940533|S->T||Benign|MGI:106918|Hif1a|hypoxia inducible factor 1, alpha subunit [Source:MGI Symbol;Acc:MGI:106918]|Heterozygous|Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia.|T|A|31|38.0|Non-synonymous|Alive
6575582|IGL01396|1|159897024|R->L|0.08|Benign|MGI:99516|Tnr|tenascin R [Source:MGI Symbol;Acc:MGI:99516]|Heterozygous|In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior.|G|T|26|38.0|Non-synonymous|Alive
6575583|IGL01396|6|118126327|T->A|1.0|Probably damaging|MGI:1926002|Csgalnact2|chondroitin sulfate N-acetylgalactosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:1926002]|Heterozygous||T|C|26|38.5|Non-synonymous|Alive
6575584|IGL01396|10|60385069|V->I|||MGI:1890219|Cdh23|cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|C|T|24|37.0|Non-synonymous|Alive
6575585|IGL01396|18|61072664|E->G|1.0|Probably damaging|MGI:97531|Pdgfrb|platelet derived growth factor receptor, beta polypeptide [Source:MGI Symbol;Acc:MGI:97531]|Heterozygous|Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities.|A|G|22|38.5|Non-synonymous|Alive
6575586|IGL01396|9|44506824|R->H|1.0|Probably damaging|MGI:1933114|Bcl9l|B cell CLL/lymphoma 9-like [Source:MGI Symbol;Acc:MGI:1933114]|Heterozygous|Mice double homozygous for conditional Bcl9 and Bcl9l alleles activated in muscle cells exhibit impaired muscle regeneration due to increased apoptosis.|G|A|22|37.5|Non-synonymous|Alive
6575587|IGL01396|1|72354245|H->R|0.25|Benign|MGI:104517|Xrcc5|X-ray repair complementing defective repair in Chinese hamster cells 5 [Source:MGI Symbol;Acc:MGI:104517]|Heterozygous|Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities.|A|G|21|38.0|Non-synonymous|Alive
6575588|IGL01396|14|45343667|Q->K||Benign|MGI:1914339|Psmc6|proteasome (prosome, macropain) 26S subunit, ATPase, 6 [Source:MGI Symbol;Acc:MGI:1914339]|Heterozygous||C|A|21|41.0|Non-synonymous|Alive
6575589|IGL01396|7|26267437|S->P|1.0|Probably damaging|MGI:3852451|Vmn1r184|vomeronasal 1 receptor, 184 [Source:MGI Symbol;Acc:MGI:3852451]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive
6575590|IGL01396|1|104947429|T->I|0.69|Possibly damaging|MGI:1346069|Cdh20|cadherin 20 [Source:MGI Symbol;Acc:MGI:1346069]|Heterozygous||C|T|18|38.5|Non-synonymous|Alive
6575591|IGL01396|7|27414771|V->A|0.43|Benign|MGI:3579880, MGI:4438566, MGI:1890574, MGI:3042571|Spnb4|spectrin beta 4 [Source:MGI Symbol;Acc:MGI:1890574]|Heterozygous|Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed.|A|G|18|35.0|Non-synonymous|Alive
6575592|IGL01396|13|85258442|I->V|0.29|Benign|MGI:97860|Rasa1|RAS p21 protein activator 1 [Source:MGI Symbol;Acc:MGI:97860]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5.|T|C|16|40.5|Non-synonymous|Alive
6575593|IGL01396|18|35588389|Y->C|1.0|Probably damaging|MGI:1298379|Matr3|matrin 3 [Source:MGI Symbol;Acc:MGI:1298379]|Heterozygous||A|G|16|39.5|Non-synonymous|Alive
6575594|IGL01396|5|87972790|Y->N|0.77|Possibly damaging|MGI:1921498|2310003l06rik|RIKEN cDNA 2310003L06 gene [Source:MGI Symbol;Acc:MGI:1921498]|Heterozygous||T|A|14|39.0|Non-synonymous|Alive
6575595|IGL01396|10|82954684|T->I|0.29|Benign|MGI:3648850|Gm4799|predicted gene 4799 [Source:MGI Symbol;Acc:MGI:3648850]|Heterozygous||C|T|13|35.0|Non-synonymous|Alive
6575596|IGL01396|11|108014322|K->E|0.19|Benign|MGI:97595|Prkca|protein kinase C, alpha [Source:MGI Symbol;Acc:MGI:97595]|Heterozygous|Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure.|T|C|13|38.0|Non-synonymous|Alive
6575597|IGL01396|16|45151503|Y->H|1.0|Probably damaging|MGI:1921352|Slc35a5|solute carrier family 35, member A5 [Source:MGI Symbol;Acc:MGI:1921352]|Heterozygous||A|G|13|38.0|Non-synonymous|Alive
6575598|IGL01396|13|55402733|T->A|1.0|Probably damaging|MGI:1345284|Slc34a1|solute carrier family 34 (sodium phosphate), member 1 [Source:MGI Symbol;Acc:MGI:1345284]|Heterozygous|Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status.|A|G|12|36.5|Non-synonymous|Alive
6575599|IGL01396|15|59323874|Y->C|1.0|Probably damaging|MGI:109296|Sqle|squalene epoxidase [Source:MGI Symbol;Acc:MGI:109296]|Heterozygous||A|G|12|37.0|Non-synonymous|Alive
6575600|IGL01396|2|77128325|I->L|0.99|Probably damaging|MGI:1919735|Ccdc141|coiled-coil domain containing 141 [Source:MGI Symbol;Acc:MGI:1919735]|Heterozygous||T|A|11|39.0|Non-synonymous|Alive
6575603|IGL01396|18|36045852|Disrupted splicing|||MGI:1098246|Nrg2|neuregulin 2 [Source:MGI Symbol;Acc:MGI:1098246]|Heterozygous|About one third of mice homozygous for a knock-out allele die prior to weaning in the absence of cardiac defects or other morphological abnormalities. Homozygotes display an early but transient postnatal growth deficit and reduced reproductive capacity.|A|T|90|35.0|Splice|Alive
6575604|IGL01396|11|67652914|Disrupted splicing|||MGI:1202388|Gas7|growth arrest specific 7 [Source:MGI Symbol;Acc:MGI:1202388]|Heterozygous||T|A|65|37.0|Splice|Alive
6575605|IGL01396|14|52204587|Disrupted splicing|||MGI:1915022|Chd8|chromodomain helicase DNA binding protein 8 [Source:MGI Symbol;Acc:MGI:1915022]|Heterozygous|Homozygous null embryos are growth retarded starting at E5.5 and exhibit developmental arrest at E6.5. Mutants develop into an egg cylinder but do not form a primitive streak or mesoderm and exhibit increased apoptosis at E7.5.|A|G|50|37.5|Splice|Alive
6575606|IGL01396|4|60838324|Disrupted splicing|||MGI:1890550, MGI:2386617, MGI:3526929, MGI:5434641, MGI:3052176, MGI:3796074, MGI:3042901, MGI:3758257, MGI:3042900, MGI:4821802, MGI:2137388, MGI:3026892|Cu463345.1|Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:J3QPA3]|Heterozygous||T|C|46|38.0|Splice|Alive
6575607|IGL01396|1|91959474|Disrupted splicing|||MGI:3036234|Hdac4|histone deacetylase 4 [Source:MGI Symbol;Acc:MGI:3036234]|Heterozygous||T|C|35|37.0|Splice|Alive
6575608|IGL01396|14|103608094|Disrupted splicing|||MGI:1891228|Scel|sciellin [Source:MGI Symbol;Acc:MGI:1891228]|Heterozygous|Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function.|A|G|35|37.0|Splice|Alive
6575609|IGL01396|9|118607123|Disrupted splicing|||MGI:104756|Itga9|integrin alpha 9 [Source:MGI Symbol;Acc:MGI:104756]|Heterozygous|Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall.|T|C|10|34.5|Splice|Alive
6576219|IGL01397|11|74121764|N->K|1.0|Probably damaging|MGI:3030235|Olfr401|olfactory receptor 401 [Source:MGI Symbol;Acc:MGI:3030235]|Heterozygous||T|A|118|37.0|Non-synonymous|Alive
6576220|IGL01397|7|118163221|N->K|0.03|Benign|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||A|T|118|40.0|Non-synonymous|Alive
6576221|IGL01397|2|87656905|N->K|0.81|Possibly damaging|MGI:3030968|Olfr1134|olfactory receptor 1134 [Source:MGI Symbol;Acc:MGI:3030968]|Heterozygous||A|T|93|39.0|Non-synonymous|Alive
6576222|IGL01397|1|153251134|G->V|||MGI:99914|Lamc1|laminin, gamma 1 [Source:MGI Symbol;Acc:MGI:99914]|Heterozygous|Embryos homozygous for a targeted null mutation lack development of basement membranes, migration of primitive endoderm cells out of the inner cell mass, and parietal yolk sac development, resulting in lethality by embryonic day 5.5.|C|A|87|37.0|Non-synonymous|Alive
6576223|IGL01397|7|30486664|D->G|0.92|Possibly damaging|MGI:1859637|Nphs1|nephrosis 1 homolog, nephrin (human) [Source:MGI Symbol;Acc:MGI:1859637]|Heterozygous|Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.|A|G|78|37.0|Non-synonymous|Alive
6576224|IGL01397|1|65168595|T->A|0.31|Benign|MGI:96413|Idh1|isocitrate dehydrogenase 1 (NADP+), soluble [Source:MGI Symbol;Acc:MGI:96413]|Heterozygous|Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequency in M. m. molossinus in Japan.|T|C|75|40.0|Non-synonymous|Alive
6576225|IGL01397|11|34207599|Q->L|1.0|Probably damaging|MGI:1096329|Foxi1|forkhead box I1 [Source:MGI Symbol;Acc:MGI:1096329]|Heterozygous|Homozygotes exhibit 50% perinatal lethality and inner ear defects resulting in vestibular and cochlear dysfunction. They are deaf with signs of impaired balance, and develop renal tubular acidosis in response to a chronic acidic load. Notably, 25% of heterozygotes die at birth.|T|A|74|39.0|Non-synonymous|Alive
6576226|IGL01397|8|12812321|W->R|1.0|Probably damaging|MGI:1354735|Atp11a|ATPase, class VI, type 11A [Source:MGI Symbol;Acc:MGI:1354735]|Heterozygous||T|A|71|40.0|Non-synonymous|Alive
6576227|IGL01397|7|21133782|V->A|||MGI:3647341|Vmn1r122|vomeronasal 1 receptor 122 [Source:MGI Symbol;Acc:MGI:3647341]|Heterozygous||A|G|65|39.0|Non-synonymous|Alive
6576228|IGL01397|X|75379539|S->P||Benign|MGI:88383|F8|coagulation factor VIII [Source:MGI Symbol;Acc:MGI:88383]|Heterozygous|Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping.|A|G|63|40.0|Non-synonymous|Alive
6576229|IGL01397|10|127458850|R->W|1.0|Probably damaging|MGI:1919000|R3hdm2|R3H domain containing 2 [Source:MGI Symbol;Acc:MGI:1919000]|Heterozygous||C|T|55|40.0|Non-synonymous|Alive
6576230|IGL01397|12|84790268|Y->C|0.82|Possibly damaging|MGI:99502|Ltbp2|latent transforming growth factor beta binding protein 2 [Source:MGI Symbol;Acc:MGI:99502]|Heterozygous|Mice homozygous for disruptions in this gene die as embryos sometime around the time of implantation.|T|C|53|39.0|Non-synonymous|Alive
6576231|IGL01397|4|112120010|N->S|0.36|Benign|MGI:2444425|Skint4|selection and upkeep of intraepithelial T cells 4 [Source:MGI Symbol;Acc:MGI:2444425]|Heterozygous||A|G|51|40.0|Non-synonymous|Alive
6576232|IGL01397|4|134156206|E->G|0.95|Possibly damaging|MGI:1917262|Ccdc21|coiled-coil domain containing 21 [Source:MGI Symbol;Acc:MGI:1917262]|Heterozygous||T|C|51|37.0|Non-synonymous|Alive
6576233|IGL01397|5|113079835|E->G|0.92|Possibly damaging|MGI:102717|Crybb3|crystallin, beta B3 [Source:MGI Symbol;Acc:MGI:102717]|Heterozygous||T|C|45|38.0|Non-synonymous|Alive
6576234|IGL01397|7|16210543|L->P|1.0|Probably damaging|MGI:1918973|Dhx34|DEAH (Asp-Glu-Ala-His) box polypeptide 34 [Source:MGI Symbol;Acc:MGI:1918973]|Heterozygous||A|G|45|36.0|Non-synonymous|Alive
6576235|IGL01397|8|47868276|N->I||Unknown|MGI:1261872|Wwc2|WW, C2 and coiled-coil domain containing 2 [Source:MGI Symbol;Acc:MGI:1261872]|Heterozygous||T|A|45|35.0|Non-synonymous|Alive
6576236|IGL01397|10|23139999|K->E|0.98|Probably damaging|MGI:1337104|Eya4|eyes absent 4 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1337104]|Heterozygous|Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion.|T|C|44|36.0|Non-synonymous|Alive
6576237|IGL01397|13|49641283|D->G|0.86|Possibly damaging|MGI:1913586|Cenpp|centromere protein P [Source:MGI Symbol;Acc:MGI:1913586]|Heterozygous||T|C|39|39.0|Non-synonymous|Alive
6576238|IGL01397|12|51894369|V->D|1.0|Probably damaging|MGI:2444133|Heatr5a|HEAT repeat containing 5A [Source:MGI Symbol;Acc:MGI:2444133]|Heterozygous||A|T|38|38.0|Non-synonymous|Alive
6576239|IGL01397|5|125698728|V->A|||MGI:3609245|Tmem132b|transmembrane protein 132B [Source:MGI Symbol;Acc:MGI:3609245]|Heterozygous||T|C|38|38.0|Non-synonymous|Alive
6576240|IGL01397|X|53260211|T->I|1.0|Probably damaging|MGI:1926005|Fam122b|family with sequence similarity 122, member B [Source:MGI Symbol;Acc:MGI:1926005]|Heterozygous||G|A|38|40.0|Non-synonymous|Alive
6576241|IGL01397|12|9008550|T->K|0.04|Benign|MGI:1921932|Wdr35|WD repeat domain 35 [Source:MGI Symbol;Acc:MGI:1921932]|Heterozygous||C|A|34|38.5|Non-synonymous|Alive
6576242|IGL01397|13|59701738|A->T|0.98|Probably damaging|MGI:1919469|Spata31d1a|spermatogenesis associated 31 subfamily D, member 1A [Source:MGI Symbol;Acc:MGI:1919469]|Heterozygous||C|T|33|40.0|Non-synonymous|Alive
6576243|IGL01397|17|29367975|E->G|0.8|Possibly damaging|MGI:1347084|Fgd2|FYVE, RhoGEF and PH domain containing 2 [Source:MGI Symbol;Acc:MGI:1347084]|Heterozygous||A|G|33|38.0|Non-synonymous|Alive
6576244|IGL01397|3|67443658|E->G|0.11|Benign|MGI:107339|Gfm1|G elongation factor, mitochondrial 1 [Source:MGI Symbol;Acc:MGI:107339]|Heterozygous||A|G|33|40.0|Non-synonymous|Alive
6576245|IGL01397|16|20679675|L->Q||Benign|MGI:2384784|Eif4g1|eukaryotic translation initiation factor 4, gamma 1 [Source:MGI Symbol;Acc:MGI:2384784]|Heterozygous||T|A|32|37.0|Non-synonymous|Alive
6576246|IGL01397|1|10159571|V->I|||MGI:2442988|Arfgef1|ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2442988]|Heterozygous||C|T|31|40.0|Non-synonymous|Alive
6576247|IGL01397|15|91894304|L->Stop||N/A|MGI:2676278|Muc19|mucin 19 [Source:MGI Symbol;Acc:MGI:2676278]|Heterozygous||T|A|30|38.5|Non-synonymous|Alive
6576248|IGL01397|3|32952597|T->I|||MGI:1916672|Pex5l|peroxisomal biogenesis factor 5-like [Source:MGI Symbol;Acc:MGI:1916672]|Heterozygous|Mice homozygous for a targeted mutation lacking isoform b exhibit exhibit reduced hyperpolarization-activated current in CA1 pyramidal neuron, impaired motor learning, impaired nest-building, decreased startle reflex, and decreased depression-related behaviors.|G|A|30|37.5|Non-synonymous|Alive
6576250|IGL01397|10|128070200|S->P||Benign|MGI:1929282|Ptges3|prostaglandin E synthase 3 (cytosolic) [Source:MGI Symbol;Acc:MGI:1929282]|Heterozygous|Disruption of gene function results in neonatal lethality, respiratory system abnormalities, as well as skin morphological and physiological defects.|T|C|28|38.5|Non-synonymous|Alive
6576251|IGL01397|17|43836468|Q->K|0.1|Benign|MGI:1858219|Rcan2|regulator of calcineurin 2 [Source:MGI Symbol;Acc:MGI:1858219]|Heterozygous|Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity.|C|A|28|40.5|Non-synonymous|Alive
6576252|IGL01397|1|34257744|K->R|0.56|Possibly damaging|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|A|G|26|39.0|Non-synonymous|Alive
6576253|IGL01397|9|26825195|D->N|||MGI:1918143|Glb1l3|galactosidase, beta 1 like 3 [Source:MGI Symbol;Acc:MGI:1918143]|Heterozygous||C|T|25|40.0|Non-synonymous|Alive
6576254|IGL01397|5|35968708|V->E|0.99|Probably damaging|MGI:1917542|Afap1|actin filament associated protein 1 [Source:MGI Symbol;Acc:MGI:1917542]|Heterozygous||T|A|24|40.0|Non-synonymous|Alive
6576255|IGL01397|2|128034891|T->P|0.49|Possibly damaging|MGI:1921371|Acoxl|acyl-Coenzyme A oxidase-like [Source:MGI Symbol;Acc:MGI:1921371]|Heterozygous||A|C|21|39.0|Non-synonymous|Alive
6576256|IGL01397|17|28817632|K->N|0.22|Benign|MGI:2146836|Brpf3|bromodomain and PHD finger containing, 3 [Source:MGI Symbol;Acc:MGI:2146836]|Heterozygous||A|T|20|39.0|Non-synonymous|Alive
6576257|IGL01397|4|59894526|V->A|0.03|Benign|MGI:2443882|Snx30|sorting nexin family member 30 [Source:MGI Symbol;Acc:MGI:2443882]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive
6576258|IGL01397|18|42228029|H->Q|1.0|Probably damaging|MGI:1913808|Lars|leucyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:1913808]|Heterozygous||A|T|17|39.0|Non-synonymous|Alive
6576259|IGL01397|16|35858728|N->S|0.28|Benign|MGI:1919489|Parp14|poly (ADP-ribose) polymerase family, member 14 [Source:MGI Symbol;Acc:MGI:1919489]|Heterozygous||T|C|15|37.0|Non-synonymous|Alive
6576260|IGL01397|11|29213594|A->V|0.04|Benign|MGI:2144474|Smek2|SMEK homolog 2, suppressor of mek1 (Dictyostelium) [Source:MGI Symbol;Acc:MGI:2144474]|Heterozygous||C|T|13|39.0|Non-synonymous|Alive
6576261|IGL01397|3|69031544|T->A||Benign|MGI:1917349|Smc4|structural maintenance of chromosomes 4 [Source:MGI Symbol;Acc:MGI:1917349]|Heterozygous||A|G|13|40.0|Non-synonymous|Alive
6576262|IGL01397|17|34714673|S->P|0.15|Benign|MGI:1932137|Tnxb|tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]|Heterozygous|Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.|T|C|10|38.0|Non-synonymous|Alive
6576263|IGL01397|6|116247998|D->G|0.07|Benign|MGI:106463|D6wsu116e|DNA segment, Chr 6, Wayne State University 116, expressed [Source:MGI Symbol;Acc:MGI:106463]|Heterozygous||A|G|10|37.5|Non-synonymous|Alive
6576265|IGL01397|3|63731729|Disrupted splicing|||MGI:2683547|Plch1|phospholipase C, eta 1 [Source:MGI Symbol;Acc:MGI:2683547]|Heterozygous||A|C|48|38.5|Splice|Alive
6576266|IGL01397|15|66696092|Disrupted splicing|||MGI:98733|Tg|thyroglobulin [Source:MGI Symbol;Acc:MGI:98733]|Heterozygous|Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight.|G|A|34|39.0|Splice|Alive
6576267|IGL01397|3|106487049|Disrupted splicing|||MGI:2181193|Dennd2d|DENN/MADD domain containing 2D [Source:MGI Symbol;Acc:MGI:2181193]|Heterozygous||G|T|23|39.0|Splice|Alive
6576874|IGL01398|2|86657688|F->I|||MGI:3030919|Olfr1085|olfactory receptor 1085 [Source:MGI Symbol;Acc:MGI:3030919]|Heterozygous||A|T|153|40.0|Non-synonymous|Alive
6576875|IGL01398|7|10102414|E->K|||MGI:3757937|Vmn2r51|vomeronasal 2, receptor 51 [Source:MGI Symbol;Acc:MGI:3757937]|Heterozygous||C|T|101|39.0|Non-synonymous|Alive
6576876|IGL01398|11|58701767|H->L||Benign|MGI:3030153|Olfr319|olfactory receptor 319 [Source:MGI Symbol;Acc:MGI:3030153]|Heterozygous||A|T|85|39.0|Non-synonymous|Alive
6576877|IGL01398|16|14202100|I->F||Benign|MGI:102643|Myh11|myosin, heavy polypeptide 11, smooth muscle [Source:MGI Symbol;Acc:MGI:102643]|Heterozygous|Homozygous null mice have impaired smooth muscle contractility. They are incapable of urinating, exhibit dilative cardiomyopathy, are growth retarded, and die within 3 days of birth.|T|A|68|37.0|Non-synonymous|Alive
6576878|IGL01398|2|88958849|P->S|||MGI:3031046|Olfr1212|olfactory receptor 1212 [Source:MGI Symbol;Acc:MGI:3031046]|Heterozygous||C|T|68|39.0|Non-synonymous|Alive
6576879|IGL01398|7|143841319|S->P|0.98|Probably damaging|MGI:1298378|Dhcr7|7-dehydrocholesterol reductase [Source:MGI Symbol;Acc:MGI:1298378]|Heterozygous|Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate.|T|C|62|37.0|Non-synonymous|Alive
6576880|IGL01398|4|94849777|I->T|1.0|Probably damaging|MGI:98664|Tek|endothelial-specific receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:98664]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality during organogenesis, impaired vascular branching in the embryo and yolk sac, abnormal cardiac development, and in some cases hemorrhages.|T|C|57|39.0|Non-synonymous|Alive
6576882|IGL01398|13|31559451|D->N|1.0|Probably damaging|MGI:1298228|Foxq1|forkhead box Q1 [Source:MGI Symbol;Acc:MGI:1298228]|Heterozygous|Mutations in this gene affect coat color and texture.|G|A|42|33.0|Non-synonymous|Alive
6576883|IGL01398|2|69959653|Y->N|0.98|Probably damaging|MGI:1861100|Ubr3|ubiquitin protein ligase E3 component n-recognin 3 [Source:MGI Symbol;Acc:MGI:1861100]|Heterozygous|Homozygous null mice obtained on a coisogenic 129S1 background die early in embryogenesis while those on a mixed 129S1/B6 background are born at a slightly reduced frequency. On a congenic C57BL/6 background, homozygotes display neonatal lethality, impaired suckling and female behavioral anosmia.|T|A|38|39.0|Non-synonymous|Alive
6576884|IGL01398|3|145016751|T->A|0.34|Benign|MGI:1346342|Clca3|chloride channel calcium activated 3 [Source:MGI Symbol;Acc:MGI:1346342]|Heterozygous|Mice homozygous for a null allele exhibit an exacerbated mucin response.|T|C|37|33.0|Non-synonymous|Alive
6576885|IGL01398|17|53962152|V->L|1.0|Probably damaging|MGI:1916333|Sult1c1|sulfotransferase family, cytosolic, 1C, member 1 [Source:MGI Symbol;Acc:MGI:102928]|Heterozygous||C|A|35|39.0|Non-synonymous|Alive
6576886|IGL01398|17|25105774|D->E||Benign|MGI:1918968|Telo2|TEL2, telomere maintenance 2, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1918968]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5.|A|T|28|35.0|Non-synonymous|Alive
6576887|IGL01398|8|13786221|H->Q|1.0|Probably damaging|MGI:1914281|Upf3a|UPF3 regulator of nonsense transcripts homolog A (yeast) [Source:MGI Symbol;Acc:MGI:1914281]|Heterozygous||C|A|25|40.0|Non-synonymous|Alive
6576888|IGL01398|4|82950362|V->M||Benign|MGI:2670972|Frem1|Fras1 related extracellular matrix protein 1 [Source:MGI Symbol;Acc:MGI:2670972]|Heterozygous||C|T|24|37.5|Non-synonymous|Alive
6576889|IGL01398|8|85009327|Y->F|0.9|Possibly damaging|MGI:2387588|Best2|bestrophin 2 [Source:MGI Symbol;Acc:MGI:2387588]|Heterozygous|Mice homozygous for a null allele exhibit reduced intraoccular pressure.|T|A|22|37.0|Non-synonymous|Alive
6576890|IGL01398|3|90392823|L->P|1.0|Probably damaging|MGI:2140050|Ints3|integrator complex subunit 3 [Source:MGI Symbol;Acc:MGI:2140050]|Heterozygous||A|G|21|39.0|Non-synonymous|Alive
6576891|IGL01398|4|109736596|I->F|1.0|Probably damaging|MGI:109419|Faf1|Fas-associated factor 1 [Source:MGI Symbol;Acc:MGI:109419]|Heterozygous|Homozygous fail to develop beyond 2-cell stage.|A|T|19|38.0|Non-synonymous|Alive
6576892|IGL01398|5|104065113|Stop->Q||N/A|MGI:1921417|Nudt9|nudix (nucleoside diphosphate linked moiety X)-type motif 9 [Source:MGI Symbol;Acc:MGI:1921417]|Heterozygous||T|C|17|34.0|Non-synonymous|Alive
6576893|IGL01398|5|141937577|L->I||Benign|MGI:2444413|Sdk1|sidekick homolog 1 (chicken) [Source:MGI Symbol;Acc:MGI:2444413]|Heterozygous||C|A|14|36.5|Non-synonymous|Alive
6576894|IGL01398|17|5712463|I->T|0.99|Probably damaging|MGI:2653229|Zdhhc14|zinc finger, DHHC domain containing 14 [Source:MGI Symbol;Acc:MGI:2653229]|Heterozygous||T|C|13|39.0|Non-synonymous|Alive
6576895|IGL01398|6|49050431|M->K|0.33|Benign|MGI:1934765|Gpnmb|glycoprotein (transmembrane) nmb [Source:MGI Symbol;Acc:MGI:1934765]|Heterozygous|Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.|T|A|13|41.0|Non-synonymous|Alive
6576896|IGL01398|X|97078179|T->I|0.07|Benign|MGI:2676330|Pgr15l|G protein-coupled receptor 15-like [Source:MGI Symbol;Acc:MGI:2676330]|Heterozygous||C|T|13|37.0|Non-synonymous|Alive
6576897|IGL01398|11|69881722|D->G|1.0|Probably damaging|MGI:2388270|Acap1|ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Source:MGI Symbol;Acc:MGI:2388270]|Heterozygous||T|C|12|34.0|Non-synonymous|Alive
6576898|IGL01398|19|37697947|T->I|0.99|Probably damaging|MGI:1096359|Cyp26a1|cytochrome P450, family 26, subfamily a, polypeptide 1 [Source:MGI Symbol;Acc:MGI:1096359]|Heterozygous|Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain.|C|T|10|35.0|Non-synonymous|Alive
6576899|IGL01398|19|8934234|Disrupted splicing|||MGI:2387612|Eml3|echinoderm microtubule associated protein like 3 [Source:MGI Symbol;Acc:MGI:2387612]|Heterozygous||T|G|61|38.0|Splice|Alive
6576901|IGL01398|11|21295403|Disrupted splicing|||MGI:2178798|Vps54|vacuolar protein sorting 54 (yeast) [Source:MGI Symbol;Acc:MGI:2178798]|Heterozygous|Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age.|A|G|31|39.0|Splice|Alive
6576902|IGL01398|5|9485762|Disrupted splicing|||MGI:1351340|Grm3|glutamate receptor, metabotropic 3 [Source:MGI Symbol;Acc:MGI:1351340]|Heterozygous|Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior.|T|C|28|37.5|Splice|Alive
6576903|IGL01398|6|56860805|Disrupted splicing|||MGI:1350921|Fkbp9|FK506 binding protein 9 [Source:MGI Symbol;Acc:MGI:1350921]|Heterozygous||T|A|14|36.0|Splice|Alive
6577521|IGL01399|2|77917064|E->G||Benign|MGI:2136773|Cwc22|CWC22 spliceosome-associated protein homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2136773]|Heterozygous||T|C|161|39.0|Non-synonymous|Alive
6577522|IGL01399|X|73000048|S->T|||MGI:108095|Zfp185|zinc finger protein 185 [Source:MGI Symbol;Acc:MGI:108095]|Heterozygous||T|A|144|37.0|Non-synonymous|Alive
6577523|IGL01399|19|38815655|D->G|0.46|Possibly damaging|MGI:1932610|Noc3l|nucleolar complex associated 3 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1932610]|Heterozygous||T|C|129|39.0|Non-synonymous|Alive
6577524|IGL01399|X|104087180|D->V|0.63|Possibly damaging|MGI:2148050|C77370|expressed sequence C77370 [Source:MGI Symbol;Acc:MGI:2148050]|Heterozygous||T|A|124|39.0|Non-synonymous|Alive
6577525|IGL01399|6|4746997|G->V|0.02|Benign|MGI:1329042|Sgce|sarcoglycan, epsilon [Source:MGI Symbol;Acc:MGI:1329042]|Heterozygous|Mice homozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance.|C|A|109|35.0|Non-synonymous|Alive
6577526|IGL01399|4|152356687|W->R|1.0|Probably damaging|MGI:3036258|Chd5|chromodomain helicase DNA binding protein 5 [Source:MGI Symbol;Acc:MGI:3036258]|Heterozygous||T|C|106|35.0|Non-synonymous|Alive
6577528|IGL01399|3|144596908|T->I|1.0|Probably damaging|MGI:1927947|Sep15|selenoprotein [Source:MGI Symbol;Acc:MGI:1927947]|Heterozygous||C|T|103|39.0|Non-synonymous|Alive
6577529|IGL01399|5|120623903|E->Stop||N/A|MGI:1919240|Ddx54|DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 [Source:MGI Symbol;Acc:MGI:1919240]|Heterozygous||G|T|102|38.0|Non-synonymous|Alive
6577530|IGL01399|4|57225775|D->G||Benign|MGI:105307|Ptpn3|protein tyrosine phosphatase, non-receptor type 3 [Source:MGI Symbol;Acc:MGI:105307]|Heterozygous|Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content.|T|C|98|37.0|Non-synonymous|Alive
6577531|IGL01399|6|35219689|I->T|1.0|Probably damaging|MGI:2141625|Nup205|nucleoporin 205 [Source:MGI Symbol;Acc:MGI:2141625]|Heterozygous||T|C|96|40.0|Non-synonymous|Alive
6577532|IGL01399|17|6009771|C->W|||MGI:1201671|Synj2|synaptojanin 2 [Source:MGI Symbol;Acc:MGI:1201671]|Heterozygous||T|G|95|38.0|Non-synonymous|Alive
6577533|IGL01399|5|31266248|E->G||Benign|MGI:2682064|Ift172|intraflagellar transport 172 [Source:MGI Symbol;Acc:MGI:2682064]|Heterozygous||T|C|93|37.0|Non-synonymous|Alive
6577534|IGL01399|12|44575884|A->S|0.02|Benign|MGI:104750|Nrcam|neuron-glia-CAM-related cell adhesion molecule [Source:MGI Symbol;Acc:MGI:104750]|Heterozygous|Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size.|G|T|87|39.0|Non-synonymous|Alive
6577535|IGL01399|15|77767270|L->Q|1.0|Probably damaging|MGI:107717|Myh9|myosin, heavy polypeptide 9, non-muscle [Source:MGI Symbol;Acc:MGI:107717]|Heterozygous|Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance but no kidney or hematopoietic defects. Mice homozygous for a conditional allele activated in T cells exhibit impaired T cell migration and adhesion.|A|T|84|35.0|Non-synonymous|Alive
6577536|IGL01399|19|12890439|M->K|0.02|Benign|MGI:3031280|Olfr1446|olfactory receptor 1446 [Source:MGI Symbol;Acc:MGI:3031280]|Heterozygous||A|T|81|35.0|Non-synonymous|Alive
6577537|IGL01399|19|8803455|L->S|0.57|Possibly damaging|MGI:1922541|Zbtb3|zinc finger and BTB domain containing 3 [Source:MGI Symbol;Acc:MGI:1922541]|Heterozygous||T|C|75|38.0|Non-synonymous|Alive
6577538|IGL01399|17|24225012|S->L|1.0|Probably damaging|MGI:102551|Ccnf|cyclin F [Source:MGI Symbol;Acc:MGI:102551]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality between E9.5 and E10.5 due to defects in yolk sac and chorioallantoic placenta maturation. Embryos show incomplete turning, underdeveloped posterior structures, neural tube closure and brain defects. MEFs have cell cycle defects.|G|A|70|38.0|Non-synonymous|Alive
6577539|IGL01399|16|32251900|D->G|0.29|Benign|MGI:1916230|Wdr53|WD repeat domain 53 [Source:MGI Symbol;Acc:MGI:1916230]|Heterozygous||A|G|69|37.0|Non-synonymous|Alive
6577540|IGL01399|19|37000170|R->Stop||N/A|MGI:2147538|Btaf1|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, (Mot1 homolog, S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2147538]|Heterozygous||C|T|67|39.0|Non-synonymous|Alive
6577541|IGL01399|7|78920088|T->S|0.82|Possibly damaging|MGI:1928895|Isg20|interferon-stimulated protein [Source:MGI Symbol;Acc:MGI:1928895]|Heterozygous||A|T|64|35.0|Non-synonymous|Alive
6577542|IGL01399|7|42904119|K->M|1.0|Probably damaging|MGI:3647107|Vmn2r63|vomeronasal 2, receptor 63 [Source:MGI Symbol;Acc:MGI:3647107]|Heterozygous||T|A|59|37.0|Non-synonymous|Alive
6577543|IGL01399|10|62071493|D->G|||MGI:3643173|Gm5424|predicted gene 5424 [Source:MGI Symbol;Acc:MGI:3643173]|Heterozygous||A|G|58|37.0|Non-synonymous|Alive
6577544|IGL01399|5|89228935|D->G|0.67|Possibly damaging|MGI:1927555|Slc4a4|solute carrier family 4 (anion exchanger), member 4 [Source:MGI Symbol;Acc:MGI:1927555]|Heterozygous|Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate.|A|G|56|39.0|Non-synonymous|Alive
6577545|IGL01399|8|72484690|A->S|1.0|Probably damaging|MGI:2142403|Slc35e1|solute carrier family 35, member E1 [Source:MGI Symbol;Acc:MGI:2142403]|Heterozygous||C|A|53|37.0|Non-synonymous|Alive
6577546|IGL01399|8|120659006|M->T|0.7|Possibly damaging|MGI:5141853, MGI:1343095|Rp24-414a22.6,emc8,gm20388|ER membrane protein complex subunit 8 [Source:MGI Symbol;Acc:MGI:1343095],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853],Uncharacterized protein C16orf74 homolog [Source:UniProtKB/Swiss-Prot;Acc:Q8K1L6]|Heterozygous||A|G|52|38.0|Non-synonymous|Alive
6577547|IGL01399|5|21294613|I->T|0.36|Benign|MGI:1922422|Ccdc146|coiled-coil domain containing 146 [Source:MGI Symbol;Acc:MGI:1922422]|Heterozygous||A|G|50|39.5|Non-synonymous|Alive
6577548|IGL01399|9|108107187|Y->H||Unknown|MGI:1277955|Bsn|bassoon [Source:MGI Symbol;Acc:MGI:1277955]|Heterozygous|Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.|A|G|50|37.0|Non-synonymous|Alive
6577549|IGL01399|1|34117517|H->R|0.09|Benign|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|A|G|49|35.0|Non-synonymous|Alive
6577550|IGL01399|3|62604431|L->Q|1.0|Probably damaging|MGI:2443628|Gpr149|G protein-coupled receptor 149 [Source:MGI Symbol;Acc:MGI:2443628]|Heterozygous|Female mice homozygous for a knock-out allele exhibit increased fertility with increased litter size and frequency.|A|T|49|40.0|Non-synonymous|Alive
6577551|IGL01399|6|52190413|Q->K|0.95|Possibly damaging|MGI:5313100, MGI:96176|Hoxa4,gm20653|predicted gene 20653 [Source:MGI Symbol;Acc:MGI:5313100],homeobox A4 [Source:MGI Symbol;Acc:MGI:96176]|Heterozygous||G|T|49|35.0|Non-synonymous|Alive
6577552|IGL01399|6|43304038|T->A|0.01|Benign|MGI:108011|Nobox|NOBOX oogenesis homeobox [Source:MGI Symbol;Acc:MGI:108011]|Heterozygous|Mice homozygous for disruptions in this gene display oocyte degeneration after birth, atrophic ovaries, and female infertility.|T|C|47|37.0|Non-synonymous|Alive
6577553|IGL01399|10|51494065|L->P|0.1|Benign|MGI:102701|Lilrb4|leukocyte immunoglobulin-like receptor, subfamily B, member 4 [Source:MGI Symbol;Acc:MGI:102701]|Heterozygous||T|C|43|40.0|Non-synonymous|Alive
6577554|IGL01399|4|116515187|N->D|1.0|Probably damaging|MGI:96581|Ipp|IAP promoted placental gene [Source:MGI Symbol;Acc:MGI:96581]|Heterozygous||A|G|39|40.0|Non-synonymous|Alive
6577555|IGL01399|15|92305144|Y->C|1.0|Probably damaging|MGI:105980|Cntn1|contactin 1 [Source:MGI Symbol;Acc:MGI:105980]|Heterozygous|Homozygous mutation of this gene results in progressive ataxia and death by 18 days of age. Mutant animals exhibit growth retardation and a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cell axon morphology.|A|G|36|36.5|Non-synonymous|Alive
6577556|IGL01399|9|106993471|S->R|||MGI:2429763|Dock3|dedicator of cyto-kinesis 3 [Source:MGI Symbol;Acc:MGI:2429763]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy.|G|T|36|37.5|Non-synonymous|Alive
6577557|IGL01399|4|117759159|F->S|0.99|Probably damaging|MGI:2181068|Klf17|Kruppel-like factor 17 [Source:MGI Symbol;Acc:MGI:2181068]|Heterozygous||A|G|34|38.0|Non-synonymous|Alive
6577558|IGL01399|1|75469146|N->K|1.0|Probably damaging|MGI:2652846|Accn4|amiloride-sensitive cation channel 4, pituitary [Source:MGI Symbol;Acc:MGI:2652846]|Heterozygous||T|A|32|38.0|Non-synonymous|Alive
6577559|IGL01399|14|118036478|F->S|0.69|Possibly damaging|MGI:102563|Dct|dopachrome tautomerase [Source:MGI Symbol;Acc:MGI:102563]|Heterozygous|Mutations in this melanocyte-specific protein gene cause coat color dilution.|A|G|32|36.5|Non-synonymous|Alive
6577560|IGL01399|16|59027266|V->I|0.13|Benign|MGI:3030020|Olfr186|olfactory receptor 186 [Source:MGI Symbol;Acc:MGI:3030020]|Heterozygous||C|T|31|41.0|Non-synonymous|Alive
6577561|IGL01399|5|37333013|D->V||Unknown|MGI:1890596|Evc|Ellis van Creveld gene syndrome [Source:MGI Symbol;Acc:MGI:1890596]|Heterozygous|Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs.|T|A|29|35.0|Non-synonymous|Alive
6577562|IGL01399|X|73949909|V->I|0.46|Possibly damaging|MGI:105942|Hcfc1|host cell factor C1 [Source:MGI Symbol;Acc:MGI:105942]|Heterozygous||C|T|25|39.0|Non-synonymous|Alive
6577564|IGL01399|10|88758302|Disrupted splicing|||MGI:1917933|Utp20|UTP20, small subunit (SSU) processome component, homolog (yeast) [Source:MGI Symbol;Acc:MGI:1917933]|Heterozygous||A|G|20|37.0|Splice|Alive
6577565|IGL01399|5|144208593|Disrupted splicing|||MGI:1917631|Tecpr1|tectonin beta-propeller repeat containing 1 [Source:MGI Symbol;Acc:MGI:1917631]|Heterozygous||A|G|15|38.0|Splice|Alive
6578180|IGL01400|2|130438353|E->G|||MGI:2136772|Vps16|vacuolar protein sorting 16 (yeast) [Source:MGI Symbol;Acc:MGI:2136772]|Heterozygous||A|G|156|39.0|Non-synonymous|Alive
6578181|IGL01400|7|108094839|C->S|0.57|Possibly damaging|MGI:3030316|Olfr482|olfactory receptor 482 [Source:MGI Symbol;Acc:MGI:3030316]|Heterozygous||A|T|156|36.0|Non-synonymous|Alive
6578182|IGL01400|1|10085931|L->P|0.97|Probably damaging|MGI:2681832|Cspp1|centrosome and spindle pole associated protein 1 [Source:MGI Symbol;Acc:MGI:2681832]|Heterozygous||T|C|132|39.0|Non-synonymous|Alive
6578183|IGL01400|6|141459228|N->S||Benign|MGI:1860764|Pde3a|phosphodiesterase 3A, cGMP inhibited [Source:MGI Symbol;Acc:MGI:1860764]|Heterozygous|Homozygous null mice display female infertility with oocyte arrest.|A|G|126|37.0|Non-synonymous|Alive
6578184|IGL01400|7|106602035|E->D|0.1|Benign|MGI:3584360|Gm1966|predicted gene 1966 [Source:MGI Symbol;Acc:MGI:3584360]|Heterozygous||T|A|108|38.0|Non-synonymous|Alive
6578185|IGL01400|19|4143627|I->T|0.77|Possibly damaging|MGI:2685519|Gpr152|G protein-coupled receptor 152 [Source:MGI Symbol;Acc:MGI:2685519]|Heterozygous||T|C|92|38.0|Non-synonymous|Alive
6578186|IGL01400|16|32979541|H->Q|0.56|Possibly damaging|MGI:1917394|Lrch3|leucine-rich repeats and calponin homology (CH) domain containing 3 [Source:MGI Symbol;Acc:MGI:1917394]|Heterozygous||T|A|90|40.0|Non-synonymous|Alive
6578187|IGL01400|1|175655095|D->E|0.22|Benign|MGI:2138151|Kmo|kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) [Source:MGI Symbol;Acc:MGI:2138151]|Heterozygous||T|A|79|40.0|Non-synonymous|Alive
6578188|IGL01400|19|18825794|L->Stop||N/A|MGI:2675603|Trpm6|transient receptor potential cation channel, subfamily M, member 6 [Source:MGI Symbol;Acc:MGI:2675603]|Heterozygous||T|A|79|39.0|Non-synonymous|Alive
6578189|IGL01400|1|84751978|R->Q|||MGI:1309481|Trip12|thyroid hormone receptor interactor 12 [Source:MGI Symbol;Acc:MGI:1309481]|Heterozygous||C|T|78|39.0|Non-synonymous|Alive
6578190|IGL01400|8|70578913|D->G|1.0|Probably damaging|MGI:109377|Ell|elongation factor RNA polymerase II [Source:MGI Symbol;Acc:MGI:109377]|Heterozygous|Mice homozygous for a knock-out allele die prior to E6.5 but after implantation.|A|G|78|39.0|Non-synonymous|Alive
6578192|IGL01400|X|153833625|W->R|1.0|Probably damaging|MGI:3605548|Spin2|spindlin family, member 2 [Source:MGI Symbol;Acc:MGI:3605548]|Heterozygous||T|A|66|39.5|Non-synonymous|Alive
6578193|IGL01400|X|143931154|K->E|0.99|Probably damaging|MGI:1277171|Dcx|doublecortin [Source:MGI Symbol;Acc:MGI:1277171]|Heterozygous|Males hemizygous for a null allele are fertile but show branching and nucleokinesis defects in migrating interneurons. Males hemizygous for a reporter allele show severe postnatal lethality and variable fertility; both female and male mutants display hippocampal dyslamination and behavioral defects.|T|C|59|40.0|Non-synonymous|Alive
6578194|IGL01400|4|83450177|P->S|1.0|Probably damaging|MGI:1916338|Snapc3|small nuclear RNA activating complex, polypeptide 3 [Source:MGI Symbol;Acc:MGI:1916338]|Heterozygous||C|T|54|40.0|Non-synonymous|Alive
6578195|IGL01400|2|155998291|T->P|0.68|Possibly damaging|MGI:108084|Cep250|centrosomal protein 250 [Source:MGI Symbol;Acc:MGI:108084]|Heterozygous||A|C|46|37.0|Non-synonymous|Alive
6578196|IGL01400|10|18652706|A->V|1.0|Probably damaging|MGI:106387|D10bwg1379e|DNA segment, Chr 10, Brigham & Women's Genetics 1379 expressed [Source:MGI Symbol;Acc:MGI:106387]|Heterozygous||G|A|41|35.0|Non-synonymous|Alive
6578197|IGL01400|4|63152722|Y->C|1.0|Probably damaging|MGI:88002|Ambp|alpha 1 microglobulin/bikunin [Source:MGI Symbol;Acc:MGI:88002]|Heterozygous|Female homozygotes for targeted null mutations exhibit reduced ovulation rates, oocytes lacking a zona pellucida, and a very low fertilization rate.|T|C|41|39.0|Non-synonymous|Alive
6578198|IGL01400|9|21959439|E->K||Benign|MGI:95408|Epor|erythropoietin receptor [Source:MGI Symbol;Acc:MGI:95408]|Heterozygous|Mutations in this locus affect erythropoiesis. Targeted null mutants die at embryonic day 11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia.|C|T|41|38.0|Non-synonymous|Alive
6578199|IGL01400|17|73828094|F->L|0.01|Benign|MGI:1928900|Ehd3|EH-domain containing 3 [Source:MGI Symbol;Acc:MGI:1928900]|Heterozygous|Mice homozygous for a knock-out allele are healthy and fertile.|T|C|40|38.0|Non-synonymous|Alive
6578200|IGL01400|3|83922122|E->G|1.0|Probably damaging|MGI:2443399|D930015e06rik|RIKEN cDNA D930015E06 gene [Source:MGI Symbol;Acc:MGI:2443399]|Heterozygous||T|C|38|38.0|Non-synonymous|Alive
6578201|IGL01400|2|172427300|D->G|1.0|Probably damaging|MGI:2444482|Cass4|Cas scaffolding protein family member 4 [Source:MGI Symbol;Acc:MGI:2444482]|Heterozygous||A|G|37|38.0|Non-synonymous|Alive
6578202|IGL01400|1|156635184|C->G|||MGI:87860|Abl2|v-abl Abelson murine leukemia viral oncogene 2 (arg, Abelson-related gene) [Source:MGI Symbol;Acc:MGI:87860]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene display multiple behavioral abnormalities indicating neuronal defects.|T|G|35|36.0|Non-synonymous|Alive
6578203|IGL01400|18|22823498|H->L|0.02|Benign|MGI:2441684|Nol4|nucleolar protein 4 [Source:MGI Symbol;Acc:MGI:2441684]|Heterozygous||T|A|32|38.5|Non-synonymous|Alive
6578204|IGL01400|4|148565271|M->R|1.0|Probably damaging|MGI:1355322|Exosc10|exosome component 10 [Source:MGI Symbol;Acc:MGI:1355322]|Heterozygous||T|G|30|37.0|Non-synonymous|Alive
6578205|IGL01400|11|60706490|H->R|1.0|Probably damaging|MGI:102682|Llgl1|lethal giant larvae homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:102682]|Heterozygous|Homozygous mutant mice die neonatally exhibiting hydroencephaly. Neural progenitor cell physiology is abnormal, resulting in a loss of cell polarity and the development of neuroepithelial rosette-like structures throughout the brain.|A|G|29|37.0|Non-synonymous|Alive
6578206|IGL01400|18|35653333|R->C|0.9|Possibly damaging|MGI:2686460|Gm1614|predicted gene 1614 [Source:MGI Symbol;Acc:MGI:2686460]|Heterozygous||G|A|29|37.0|Non-synonymous|Alive
6578207|IGL01400|7|13132303|H->P|1.0|Probably damaging|MGI:2159698|Vmn1r87|vomeronasal 1 receptor 87 [Source:MGI Symbol;Acc:MGI:2159698]|Heterozygous||T|G|28|39.0|Non-synonymous|Alive
6578208|IGL01400|18|78192213|N->D|||MGI:1351653|Slc14a2|solute carrier family 14 (urea transporter), member 2 [Source:MGI Symbol;Acc:MGI:1351653]|Heterozygous|Homozygous mice lacking the collecting duct specific isoforms display decreased urea permeability and urine osmolality and increased urine flow.|T|C|24|39.0|Non-synonymous|Alive
6578209|IGL01400|5|99243101|I->N|0.99|Probably damaging|MGI:2443755|Rasgef1b|RasGEF domain family, member 1B [Source:MGI Symbol;Acc:MGI:2443755]|Heterozygous||A|T|23|39.0|Non-synonymous|Alive
6578210|IGL01400|10|117659775|N->K|0.02|Benign|MGI:1917824|Cpm|carboxypeptidase M [Source:MGI Symbol;Acc:MGI:1917824]|Heterozygous||C|A|22|39.5|Non-synonymous|Alive
6578211|IGL01400|10|118157251|H->Q|1.0|Probably damaging|MGI:96951|Mdm1|transformed mouse 3T3 cell double minute 1 [Source:MGI Symbol;Acc:MGI:96951]|Heterozygous|Mice homozygous for a nonsense point mutation exhibit retinal degeneration, abnormal eye electrophysiology.|T|G|22|37.0|Non-synonymous|Alive
6578213|IGL01400|11|68494547|K->R|0.36|Benign|MGI:2443588|Pik3r5|phosphoinositide-3-kinase, regulatory subunit 5, p101 [Source:MGI Symbol;Acc:MGI:2443588]|Heterozygous|Mice homozygous for a knock-out allele exhibit significantly reduced neutrophil chemotaxis and chemokinesis in vitro and impaired neutrophil recruitment into the peritoneum in a model of thioglycollate-induced aseptic peritonitis.|A|G|19|36.0|Non-synonymous|Alive
6578214|IGL01400|18|37146286|V->A|0.39|Benign|MGI:1298372, MGI:2150982, MGI:1298406, MGI:2447322, MGI:1298408|Pcdha11,pcdha9,pcdha4,pcdha10,pcdha1,pcd|protocadherin alpha 10 [Source:MGI Symbol;Acc:MGI:1298408]|Heterozygous||T|C|19|37.0|Non-synonymous|Alive
6578811|IGL01401|11|49280487|V->E|||MGI:3031227|Olfr1393|olfactory receptor 1393 [Source:MGI Symbol;Acc:MGI:3031227]|Heterozygous||T|A|233|37.0|Non-synonymous|Alive
6578812|IGL01401|13|11591352|E->V|0.92|Possibly damaging|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|T|A|207|39.0|Non-synonymous|Alive
6578813|IGL01401|7|87037273|V->I|0.03|Benign|MGI:3646882|Vmn2r79|vomeronasal 2, receptor 79 [Source:MGI Symbol;Acc:MGI:3646882]|Heterozygous||G|A|168|38.0|Non-synonymous|Alive
6578814|IGL01401|4|43770112|R->G|1.0|Probably damaging|MGI:1352686|Olfr159|olfactory receptor 159 [Source:MGI Symbol;Acc:MGI:1352686]|Heterozygous||T|C|156|39.0|Non-synonymous|Alive
6578815|IGL01401|14|44521527|M->L|0.99|Probably damaging|MGI:4937920|Gm17093|predicted gene 17093 [Source:MGI Symbol;Acc:MGI:4937920]|Heterozygous||A|C|90|38.0|Non-synonymous|Alive
6578816|IGL01401|14|26638454|L->P||Benign|MGI:99433|Arf4|ADP-ribosylation factor 4 [Source:MGI Symbol;Acc:MGI:99433]|Heterozygous||T|C|87|38.0|Non-synonymous|Alive
6578817|IGL01401|2|174345502|D->G||Unknown|MGI:5313030, MGI:95777|Gm20721,gnas|GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Source:MGI Symbol;Acc:MGI:95777],predicted gene, 20721 [Source:MGI Symbol;Acc:MGI:5313030]|Heterozygous|NO_PHENOTYPE,Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies.|A|G|70|37.5|Non-synonymous|Alive
6578818|IGL01401|7|19861129|Y->C||Benign|MGI:2685615|Ceacam16|carcinoembryonic antigen-related cell adhesion molecule 16 [Source:MGI Symbol;Acc:MGI:2685615]|Heterozygous||T|C|68|37.0|Non-synonymous|Alive
6578819|IGL01401|12|83541374|D->G|1.0|Probably damaging|MGI:1921078|Dcaf4|DDB1 and CUL4 associated factor 4 [Source:MGI Symbol;Acc:MGI:1921078]|Heterozygous||A|G|57|39.0|Non-synonymous|Alive
6578820|IGL01401|5|91000566|I->K|0.23|Benign|MGI:1915871|Mthfd2l|methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like [Source:MGI Symbol;Acc:MGI:1915871]|Heterozygous||T|A|54|39.0|Non-synonymous|Alive
6578821|IGL01401|6|147107743|T->M|0.98|Probably damaging|MGI:2444786|Klhdc5|kelch domain containing 5 [Source:MGI Symbol;Acc:MGI:2444786]|Heterozygous||C|T|54|37.0|Non-synonymous|Alive
6578822|IGL01401|4|124746087|V->A|0.98|Probably damaging|MGI:103257|Inpp5b|inositol polyphosphate-5-phosphatase B [Source:MGI Symbol;Acc:MGI:103257]|Heterozygous|Homozygous null male mice are infertile with a disruption in spermatogenesis and a defect in adherens junctions processing.|T|C|52|38.0|Non-synonymous|Alive
6578823|IGL01401|7|96874267|Y->C|0.99|Probably damaging|MGI:2447063|Tenm4|teneurin transmembrane protein 4 [Source:MGI Symbol;Acc:MGI:2447063]|Heterozygous||A|G|49|38.0|Non-synonymous|Alive
6578824|IGL01401|2|129269216|V->E|1.0|Probably damaging|MGI:1917716|Ckap2l|cytoskeleton associated protein 2-like [Source:MGI Symbol;Acc:MGI:1917716]|Heterozygous||A|T|48|35.0|Non-synonymous|Alive
6578825|IGL01401|5|81688669|V->A|0.62|Possibly damaging|MGI:2441950|Lphn3|latrophilin 3 [Source:MGI Symbol;Acc:MGI:2441950]|Heterozygous||T|C|48|37.0|Non-synonymous|Alive
6578826|IGL01401|5|150438788|I->V||Benign|MGI:2443895|Fry|furry homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:2443895]|Heterozygous||A|G|46|37.0|Non-synonymous|Alive
6578827|IGL01401|14|101794277|R->Stop||N/A|MGI:1353586|Lmo7|LIM domain only 7 [Source:MGI Symbol;Acc:MGI:1353586]|Heterozygous|Targeted mutations in this gene result in postnatal lethality, growth defects, skeletal muscle abnormalities and retinal defects reflective of retinal degeneration.|C|T|44|36.0|Non-synonymous|Alive
6578828|IGL01401|9|70327166|I->N|0.95|Possibly damaging|MGI:106621|Myo1e|myosin IE [Source:MGI Symbol;Acc:MGI:106621]|Heterozygous|Mice homozygous for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects.|T|A|38|37.0|Non-synonymous|Alive
6578829|IGL01401|3|36942292|N->S||Benign|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||A|G|36|39.0|Non-synonymous|Alive
6578830|IGL01401|9|48947634|D->G|1.0|Probably damaging|MGI:1861899|Htr3b|5-hydroxytryptamine (serotonin) receptor 3B [Source:MGI Symbol;Acc:MGI:1861899]|Heterozygous||T|C|34|37.0|Non-synonymous|Alive
6578831|IGL01401|9|110149965|I->T|0.04|Benign|MGI:1203524|Smarcc1|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 [Source:MGI Symbol;Acc:MGI:1203524]|Heterozygous|Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation.|T|C|30|40.0|Non-synonymous|Alive
6578832|IGL01401|12|30001984|C->F|1.0|Probably damaging|MGI:1916925|Pxdn|peroxidasin homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1916925]|Heterozygous||G|T|29|35.0|Non-synonymous|Alive
6578833|IGL01401|2|66289111|N->K|1.0|Probably damaging|MGI:98246|Scn1a|sodium channel, voltage-gated, type I, alpha [Source:MGI Symbol;Acc:MGI:98246]|Heterozygous|Mice homozygous for a knock-out allele exhibit postnatal lethality, seizures, and abnormal behavior. Mice heterozygous for a knock-out allele exhibit premature death and seizures associated with abnormal nervous system electrophysiology.|A|T|29|40.0|Non-synonymous|Alive
6578834|IGL01401|6|135736363|H->R|||MGI:95821|Grin2b|glutamate receptor, ionotropic, NMDA2B (epsilon 2) [Source:MGI Symbol;Acc:MGI:95821]|Heterozygous|Homozygotes for targeted null mutations exhibit impairments in suckling, in hippocampal long term depression, and in pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth.|T|C|28|38.5|Non-synonymous|Alive
6578835|IGL01401|17|86168840|V->A|1.0|Probably damaging|MGI:97599|Prkce|protein kinase C, epsilon [Source:MGI Symbol;Acc:MGI:97599]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced ethanol self-administration and are more sensitive to the acute behavioral effects of ethanol and other drugs that activate GABA(A) receptors. Mutants show reduced anxiety and stress hormones.|T|C|27|35.0|Non-synonymous|Alive
6578837|IGL01401|1|36799387|Y->H|1.0|Probably damaging|MGI:1927110|Tmem131|transmembrane protein 131 [Source:MGI Symbol;Acc:MGI:1927110]|Heterozygous||A|G|22|37.5|Non-synonymous|Alive
6578838|IGL01401|8|109552114|Y->C|1.0|Probably damaging|MGI:1927617|Dhx38|DEAH (Asp-Glu-Ala-His) box polypeptide 38 [Source:MGI Symbol;Acc:MGI:1927617]|Heterozygous||T|C|20|36.0|Non-synonymous|Alive
6578839|IGL01401|15|102937320|H->Q||Benign|MGI:96194|Hoxc12|homeobox C12 [Source:MGI Symbol;Acc:MGI:96194]|Heterozygous||C|A|19|33.0|Non-synonymous|Alive
6578840|IGL01401|6|149326896|E->G|0.98|Probably damaging|MGI:1914496|2810474o19rik|RIKEN cDNA 2810474O19 gene [Source:MGI Symbol;Acc:MGI:1914496]|Heterozygous||A|G|18|38.0|Non-synonymous|Alive
6578841|IGL01401|1|87994198|D->E|0.95|Possibly damaging|MGI:2443184|Usp40|ubiquitin specific peptidase 40 [Source:MGI Symbol;Acc:MGI:2443184]|Heterozygous||A|T|16|39.5|Non-synonymous|Alive
6578842|IGL01401|12|74222663|V->A|1.0|Probably damaging|MGI:2673872|Syt16|synaptotagmin XVI [Source:MGI Symbol;Acc:MGI:2673872]|Heterozygous||T|C|16|39.0|Non-synonymous|Alive
6578843|IGL01401|6|97252552|N->T|1.0|Probably damaging|MGI:2444169|Lmod3|leiomodin 3 (fetal) [Source:MGI Symbol;Acc:MGI:2444169]|Heterozygous||T|G|15|38.0|Non-synonymous|Alive
6578844|IGL01401|1|130648064|V->E|1.0|Probably damaging|MGI:88229|C4bp|complement component 4 binding protein [Source:MGI Symbol;Acc:MGI:88229]|Heterozygous||A|T|10|38.0|Non-synonymous|Alive
6578846|IGL01401|9|21569582|Disrupted splicing|||MGI:1913208|Carm1|coactivator-associated arginine methyltransferase 1 [Source:MGI Symbol;Acc:MGI:1913208]|Heterozygous|Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis.|T|A|165|34.0|Splice|Alive
6578847|IGL01401|11|101276683|Disrupted splicing|||MGI:1917097|Wnk4|WNK lysine deficient protein kinase 4 [Source:MGI Symbol;Acc:MGI:1917097]|Heterozygous|Mice homozygous for a hypomorphic allele exhibit increased sodium and postassium excretion and decreased active systolic blood pressure. Mice homozygous for a point mutation exhibit acidosis, hypertension, increased circulating potassium levels, and decreased potassium excretion.|A|G|73|36.0|Splice|Alive
6578848|IGL01401|11|35898618|Disrupted splicing|||MGI:2388637|Wwc1|WW, C2 and coiled-coil domain containing 1 [Source:MGI Symbol;Acc:MGI:2388637]|Heterozygous||C|A|43|36.0|Splice|Alive
6578850|IGL01401|19|10861524|Disrupted splicing|||MGI:2147810|Tmem132a|transmembrane protein 132A [Source:MGI Symbol;Acc:MGI:2147810]|Heterozygous||A|G|19|31.0|Splice|Alive
6579456|IGL01402|17|37726302|T->A|0.11|Benign|MGI:2177503|Olfr120|olfactory receptor 120 [Source:MGI Symbol;Acc:MGI:2177503]|Heterozygous||A|G|381|37.0|Non-synonymous|Alive
6579457|IGL01402|7|141102042|Y->Stop||N/A|MGI:1918595|Ano9|anoctamin 9 [Source:MGI Symbol;Acc:MGI:1918595]|Heterozygous||A|C|287|38.0|Non-synonymous|Alive
6579458|IGL01402|12|85267929|F->L||Benign|MGI:1353455|Mlh3|mutL homolog 3 (E coli) [Source:MGI Symbol;Acc:MGI:1353455]|Heterozygous|Homozygotes for a targeted null mutation are sterile. Both oocytes and spermatocytes exhibit meiotic block and die.|A|T|189|39.0|Non-synonymous|Alive
6579460|IGL01402|12|26327301|Y->F|0.48|Possibly damaging|MGI:1344401|Rnf144a|ring finger protein 144A [Source:MGI Symbol;Acc:MGI:1344401]|Heterozygous||T|A|172|37.0|Non-synonymous|Alive
6579463|IGL01402|6|34421117|R->G|1.0|Probably damaging|MGI:101918|Akr1b7|aldo-keto reductase family 1, member B7 [Source:MGI Symbol;Acc:MGI:101918]|Heterozygous|Mice homozygous for a null allele exhbit distrupted progresterone levels during estrous.|A|G|135|39.0|Non-synonymous|Alive
6579466|IGL01402|2|25442003|S->P|0.01|Benign|MGI:99606|Abca2|ATP-binding cassette, sub-family A (ABC1), member 2 [Source:MGI Symbol;Acc:MGI:99606]|Heterozygous|Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,|T|C|130|37.0|Non-synonymous|Alive
6579474|IGL01402|7|138259839|I->N|1.0|Probably damaging|MGI:1917821|Tcerg1l|transcription elongation regulator 1-like [Source:MGI Symbol;Acc:MGI:1917821]|Heterozygous||A|T|97|36.0|Non-synonymous|Alive
6579475|IGL01402|2|13665507|N->S|1.0|Probably damaging|MGI:2386797|St8sia6|ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 [Source:MGI Symbol;Acc:MGI:2386797]|Heterozygous||T|C|93|38.0|Non-synonymous|Alive
6579476|IGL01402|17|20375747|K->M|0.97|Probably damaging|MGI:1316664|Vmn2r107|vomeronasal 2, receptor 107 [Source:MGI Symbol;Acc:MGI:1316664]|Heterozygous||A|T|88|39.0|Non-synonymous|Alive
6579478|IGL01402|4|88522243|R->G|0.17|Benign|MGI:107657|Ifnb1|interferon beta 1, fibroblast [Source:MGI Symbol;Acc:MGI:107657]|Heterozygous|Homozygotes for targeted null mutations exhibit enhanced proliferation and reduced TNF-alpha production by activated T lymphocytes, a defect in B cell maturation, fewer circulating granulocytes and macrophages, and increased viral susceptibility.|T|C|80|39.5|Non-synonymous|Alive
6579479|IGL01402|6|120390679|L->Stop||N/A|MGI:2136980|Kdm5a|lysine (K)-specific demethylase 5A [Source:MGI Symbol;Acc:MGI:2136980]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatal survival is sensitive to genetic background.|T|A|80|40.0|Non-synonymous|Alive
6579480|IGL01402|12|91841833|S->P|0.15|Benign|MGI:1329016|Sel1l|sel-1 suppressor of lin-12-like (C. elegans) [Source:MGI Symbol;Acc:MGI:1329016]|Heterozygous|Mice homozygous for a gene trapped allele exhibit prenatal lethality with impaired exocrine and endocrine pancreatic development.|A|G|75|38.0|Non-synonymous|Alive
6579482|IGL01402|17|24444234|L->Q|0.97|Probably damaging|MGI:109530|E4f1|E4F transcription factor 1 [Source:MGI Symbol;Acc:MGI:109530]|Heterozygous|Homozygous null mice display early embryonic lethality with mitotic progression failure and increased apoptosis.|A|T|69|38.0|Non-synonymous|Alive
6579485|IGL01402|4|119187158|Y->C|1.0|Probably damaging|MGI:1349816|Ermap|erythroblast membrane-associated protein [Source:MGI Symbol;Acc:MGI:1349816]|Heterozygous||T|C|57|34.0|Non-synonymous|Alive
6579487|IGL01402|11|62340474|V->F|1.0|Probably damaging|MGI:1349717|Ncor1|nuclear receptor co-repressor 1 [Source:MGI Symbol;Acc:MGI:1349717]|Heterozygous|Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities.|C|A|55|37.0|Non-synonymous|Alive
6579489|IGL01402|8|84098397|C->S|0.43|Benign|MGI:2684420|Dcaf15|DDB1 and CUL4 associated factor 15 [Source:MGI Symbol;Acc:MGI:2684420]|Heterozygous||A|T|53|40.0|Non-synonymous|Alive
6579491|IGL01402|5|134901909|G->R||Unknown|MGI:1923879|Wbscr28|Williams-Beuren syndrome chromosome region 28 (human) [Source:MGI Symbol;Acc:MGI:1923879]|Heterozygous||C|T|51|35.0|Non-synonymous|Alive
6579493|IGL01402|4|116996065|R->L|0.96|Probably damaging|MGI:1923858|Hectd3|HECT domain containing 3 [Source:MGI Symbol;Acc:MGI:1923858]|Heterozygous||G|T|48|35.0|Non-synonymous|Alive
6579494|IGL01402|17|71874178|H->Q|1.0|Probably damaging|MGI:103305|Alk|anaplastic lymphoma kinase [Source:MGI Symbol;Acc:MGI:103305]|Heterozygous||A|T|43|39.0|Non-synonymous|Alive
6579495|IGL01402|10|34547385|E->A|0.99|Probably damaging|MGI:103265|Frk|fyn-related kinase [Source:MGI Symbol;Acc:MGI:103265]|Heterozygous|Mice homozygous for a targeted null mutation do not exhibit increased susceptibility to spontaneous tumors nor increased sensitivity to inoizing radiation. Epithelial tissues appear similar to controls, but circulating levels of T3 were significantly reduced.|A|C|42|37.0|Non-synonymous|Alive
6579497|IGL01402|6|34889063|P->L||Benign|MGI:2141558|Wdr91|WD repeat domain 91 [Source:MGI Symbol;Acc:MGI:2141558]|Heterozygous||G|A|41|35.0|Non-synonymous|Alive
6579500|IGL01402|7|111077027|F->S|||MGI:109207|Eif4g2|eukaryotic translation initiation factor 4, gamma 2 [Source:MGI Symbol;Acc:MGI:109207]|Heterozygous|Mice homozygous for a targeted null mutation fail to undergo gastrulation and die by E11.5.|A|G|38|39.0|Non-synonymous|Alive
6579504|IGL01402|5|130019804|E->G|0.02|Benign|MGI:88084|Asl|argininosuccinate lyase [Source:MGI Symbol;Acc:MGI:88084]|Heterozygous|Mice homozygous for disruptions in this gene fed well initially but then stopped feeding and became inactive before dying within 48 hours of birth. Arginine metabolism is disrupted leading to abnormal circulating amino acid levels.|T|C|28|36.0|Non-synonymous|Alive
6579507|IGL01402|15|80880544|G->V|0.94|Possibly damaging|MGI:2443730|Tnrc6b|trinucleotide repeat containing 6b [Source:MGI Symbol;Acc:MGI:2443730]|Heterozygous||G|T|24|37.5|Non-synonymous|Alive
6579509|IGL01402|15|83792213|F->S|0.15|Benign|MGI:106316|Mpped1|metallophosphoesterase domain containing 1 [Source:MGI Symbol;Acc:MGI:106316]|Heterozygous||T|C|23|37.0|Non-synonymous|Alive
6579511|IGL01402|6|30645276|H->R|0.39|Benign|MGI:88478|Cpa1|carboxypeptidase A1, pancreatic [Source:MGI Symbol;Acc:MGI:88478]|Heterozygous|Mice homozygous for a knock-in allele are viable and fertile.|A|G|18|34.0|Non-synonymous|Alive
6579512|IGL01402|9|123051454|K->E|0.6|Possibly damaging|MGI:3027002|Tgm4|transglutaminase 4 (prostate) [Source:MGI Symbol;Acc:MGI:3027002]|Heterozygous||A|G|15|40.0|Non-synonymous|Alive
6579518|IGL01402|5|121339417|Disrupted splicing|||MGI:3647820|Gm15800|predicted gene 15800 [Source:MGI Symbol;Acc:MGI:3647820]|Heterozygous||T|C|60|39.0|Splice|Alive
6579520|IGL01402|2|31604721|Disrupted splicing|||MGI:2443699|Fubp3|far upstream element (FUSE) binding protein 3 [Source:MGI Symbol;Acc:MGI:2443699]|Heterozygous||G|A|54|39.0|Splice|Alive
6580123|IGL01403|15|75158648|N->S|1.0|Probably damaging|MGI:109440|Ly6g|lymphocyte antigen 6 complex, locus G [Source:MGI Symbol;Acc:MGI:109440]|Heterozygous||A|G|102|38.0|Non-synonymous|Alive
6580124|IGL01403|12|113932242|V->A|||MGI:3052201, MGI:4361843, MGI:4439920, MGI:3581248|Ac079273.2||Heterozygous||A|G|95|38.0|Non-synonymous|Alive
6580125|IGL01403|17|19792967|Y->H|0.06|Benign|MGI:3644032|Vmn2r103|vomeronasal 2, receptor 103 [Source:MGI Symbol;Acc:MGI:3644032]|Heterozygous||T|C|87|39.0|Non-synonymous|Alive
6580126|IGL01403|7|107967621|T->A|0.73|Possibly damaging|MGI:3030310|Olfr476|olfactory receptor 476 [Source:MGI Symbol;Acc:MGI:3030310]|Heterozygous||A|G|82|38.0|Non-synonymous|Alive
6580127|IGL01403|14|21234915|K->R|0.99|Probably damaging|MGI:87930|Adk|adenosine kinase [Source:MGI Symbol;Acc:MGI:87930]|Heterozygous|Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation.|A|G|69|39.0|Non-synonymous|Alive
6580128|IGL01403|9|21205116|I->F|1.0|Probably damaging|MGI:99558|Pde4a|phosphodiesterase 4A, cAMP specific [Source:MGI Symbol;Acc:MGI:99558]|Heterozygous|Homozygous null mice have a normal phenotype.|A|T|60|35.5|Non-synonymous|Alive
6580129|IGL01403|19|5959093|H->R|0.1|Benign|MGI:99690|Pola2|polymerase (DNA directed), alpha 2 [Source:MGI Symbol;Acc:MGI:99690]|Heterozygous||T|C|55|39.0|Non-synonymous|Alive
6580130|IGL01403|6|69963436|I->F|||MGI:2686256|Igkv5-37|immunoglobulin kappa variable 5-37 [Source:MGI Symbol;Acc:MGI:2686256]|Heterozygous||T|A|53|40.0|Non-synonymous|Alive
6580131|IGL01403|2|24839626|T->I|0.99|Probably damaging|MGI:1924933|Ehmt1|euchromatic histone methyltransferase 1 [Source:MGI Symbol;Acc:MGI:1924933]|Heterozygous|Heterozygous null mice display decreased exploration in a new environment.|G|A|51|38.0|Non-synonymous|Alive
6580133|IGL01403|17|27118595|C->S|0.15|Benign|MGI:96624|Itpr3|inositol 1,4,5-triphosphate receptor 3 [Source:MGI Symbol;Acc:MGI:96624]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion.|T|A|46|34.5|Non-synonymous|Alive
6580134|IGL01403|2|126035940|Y->N|1.0|Probably damaging|MGI:95521, MGI:1923073|4930525f21rik,fgf7|fibroblast growth factor 7 [Source:MGI Symbol;Acc:MGI:95521],RIKEN cDNA 4930525F21 gene [Source:MGI Symbol;Acc:MGI:1923073]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE|T|A|46|37.0|Non-synonymous|Alive
6580135|IGL01403|11|100038290|C->R|0.62|Possibly damaging|MGI:1309994|Krt34|keratin 34 [Source:MGI Symbol;Acc:MGI:1309994]|Heterozygous||A|G|45|39.0|Non-synonymous|Alive
6580136|IGL01403|11|117791074|T->A|1.0|Probably damaging|MGI:2669037|Tmc8|transmembrane channel-like gene family 8 [Source:MGI Symbol;Acc:MGI:2669037]|Heterozygous||A|G|41|35.0|Non-synonymous|Alive
6580137|IGL01403|11|77031672|V->L|0.01|Benign|MGI:96285|Slc6a4|solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 [Source:MGI Symbol;Acc:MGI:96285]|Heterozygous|Homozygotes for a targeted null mutation exhibit greatly diminished brain serotonin levels and lack cortical barrel patterns. Also, mutants lack the locomotor enhancing response to the drug (+)-3,4-methylenedioxymethamphetamine.|G|T|39|38.0|Non-synonymous|Alive
6580138|IGL01403|5|108269710|N->D|0.24|Benign|MGI:1100515|Dr1|down-regulator of transcription 1 [Source:MGI Symbol;Acc:MGI:1100515]|Heterozygous||A|G|38|39.0|Non-synonymous|Alive
6580139|IGL01403|12|118872867|L->Q|1.0|Probably damaging|MGI:1924956|Abcb5|ATP-binding cassette, sub-family B (MDR/TAP), member 5 [Source:MGI Symbol;Acc:MGI:1924956]|Heterozygous||A|T|37|37.0|Non-synonymous|Alive
6580140|IGL01403|16|50202513|I->V||Benign|MGI:1917758|Bbx|bobby sox homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1917758]|Heterozygous||T|C|32|39.0|Non-synonymous|Alive
6580141|IGL01403|6|121268668|H->Q|0.04|Benign|MGI:1344364|Usp18|ubiquitin specific peptidase 18 [Source:MGI Symbol;Acc:MGI:1344364]|Heterozygous|Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.|T|A|31|39.0|Non-synonymous|Alive
6580142|IGL01403|1|150593097|W->R|1.0|Probably damaging|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||A|T|29|38.0|Non-synonymous|Alive
6580143|IGL01403|11|119443300|K->E|||MGI:1289196|Rnf213|ring finger protein 213 [Source:MGI Symbol;Acc:MGI:1289196]|Heterozygous||A|G|29|37.0|Non-synonymous|Alive
6580144|IGL01403|15|35709479|D->E|0.01|Benign|MGI:1916380|Vps13b|vacuolar protein sorting 13B (yeast) [Source:MGI Symbol;Acc:MGI:1916380]|Heterozygous||T|A|28|39.0|Non-synonymous|Alive
6580145|IGL01403|14|65623186|V->A|||MGI:2685446|Gm600|predicted gene 600 [Source:MGI Symbol;Acc:MGI:2685446]|Heterozygous||T|C|27|37.0|Non-synonymous|Alive
6580146|IGL01403|9|58117385|Y->C|1.0|Probably damaging|MGI:1922464|Ccdc33|coiled-coil domain containing 33 [Source:MGI Symbol;Acc:MGI:1922464]|Heterozygous||T|C|26|37.0|Non-synonymous|Alive
6580148|IGL01403|2|60424288|V->A|0.99|Probably damaging|MGI:102468|Pla2r1|phospholipase A2 receptor 1 [Source:MGI Symbol;Acc:MGI:102468]|Heterozygous|Homozygous null mice are viable and fertile with no overt abnormalities. These mice are more resistant to toxic effects of lipopolysaccharide than controls, suggesting a role for this gene in the progression of endotoxic shock.|A|G|24|39.0|Non-synonymous|Alive
6580149|IGL01403|7|133919610|Q->L||Benign|MGI:105378|Adam12|a disintegrin and metallopeptidase domain 12 (meltrin alpha) [Source:MGI Symbol;Acc:MGI:105378]|Heterozygous|Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles.|T|A|23|38.0|Non-synonymous|Alive
6580150|IGL01403|7|105329398|R->C|1.0|Probably damaging|MGI:3030524|Olfr690|olfactory receptor 690 [Source:MGI Symbol;Acc:MGI:3030524]|Heterozygous||G|A|20|39.0|Non-synonymous|Alive
6580151|IGL01403|9|53555129|F->L|0.97|Probably damaging|MGI:107605|Npat|nuclear protein in the AT region [Source:MGI Symbol;Acc:MGI:107605]|Heterozygous||T|A|19|41.0|Non-synonymous|Alive
6580152|IGL01403|10|127370099|I->F|1.0|Probably damaging|MGI:105932|Inhbc|inhibin beta-C [Source:MGI Symbol;Acc:MGI:105932]|Heterozygous|Mice homozygous for a null mutation display decreased serum albumin in females but are fertile with normal liver and reproductive morphology and physiology.|T|A|18|37.5|Non-synonymous|Alive
6580153|IGL01403|11|115406578|I->F|0.96|Probably damaging|MGI:1915822|Ict1|immature colon carcinoma transcript 1 [Source:MGI Symbol;Acc:MGI:1915822]|Heterozygous||A|T|17|40.0|Non-synonymous|Alive
6580154|IGL01403|17|13903870|P->S||Benign|MGI:1314653|Mllt4|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 [Source:MGI Symbol;Acc:MGI:1314653]|Heterozygous|Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds.|C|T|17|37.0|Non-synonymous|Alive
6580155|IGL01403|18|61114825|T->A|0.04|Benign|MGI:1339758|Csf1r|colony stimulating factor 1 receptor [Source:MGI Symbol;Acc:MGI:1339758]|Heterozygous|Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.|A|G|15|38.0|Non-synonymous|Alive
6580156|IGL01403|7|118158132|D->E|0.12|Benign|MGI:1919742|Smg1|SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) [Source:MGI Symbol;Acc:MGI:1919742]|Heterozygous||A|T|14|38.5|Non-synonymous|Alive
6580157|IGL01403|5|137645319|F->L|0.94|Possibly damaging|MGI:1194882|Irs3|insulin receptor substrate 3 [Source:MGI Symbol;Acc:MGI:1194882]|Heterozygous|Mice homozygous for a targeted mutation are viable, fertile and display no detectable abnormalities in growth or glucose homeostasis.|A|G|12|33.5|Non-synonymous|Alive
6580158|IGL01403|15|44483833|C->Stop||N/A|MGI:2183153|Pkhd1l1|polycystic kidney and hepatic disease 1-like 1 [Source:MGI Symbol;Acc:MGI:2183153]|Heterozygous||T|A|10|40.0|Non-synonymous|Alive
6580159|IGL01403|4|144377133|M->K||Benign|MGI:3712553|Gm13125|predicted gene 13125 [Source:MGI Symbol;Acc:MGI:3712553]|Heterozygous||A|T|10|39.5|Non-synonymous|Alive
6580160|IGL01403|9|59871563|R->H|1.0|Probably damaging|MGI:107735|Myo9a|myosin IXa [Source:MGI Symbol;Acc:MGI:107735]|Heterozygous||G|A|10|40.0|Non-synonymous|Alive
6580162|IGL01403|1|46116300|Disrupted splicing|||MGI:2684953|Dnahc7b|dynein, axonemal, heavy chain 7B [Source:MGI Symbol;Acc:MGI:2684953]|Heterozygous||T|C|90|40.0|Splice|Alive
6580163|IGL01403|7|44466559|Disrupted splicing|||MGI:1915602|Aspdh|aspartate dehydrogenase domain containing [Source:MGI Symbol;Acc:MGI:1915602]|Heterozygous||A|G|61|37.0|Splice|Alive
6580164|IGL01403|1|180234983|Disrupted splicing|||MGI:109284|Psen2|presenilin 2 [Source:MGI Symbol;Acc:MGI:109284]|Heterozygous|Homozygotes for targeted null mutations are viable and fertile, but older mutants develop mild pulmonary fibrosis and hemorrhage.|A|T|26|36.5|Splice|Alive
6580165|IGL01403|2|111229170|Disrupted splicing|||MGI:1914825|4930430a15rik|RIKEN cDNA 4930430A15 gene [Source:MGI Symbol;Acc:MGI:1914825]|Heterozygous||T|C|25|38.0|Splice|Alive
6580167|IGL01403|5|33885378|Disrupted splicing|||MGI:1276574|Whsc1|Wolf-Hirschhorn syndrome candidate 1 (human) [Source:MGI Symbol;Acc:MGI:1276574]|Heterozygous|Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.|A|G|21|39.0|Splice|Alive
6580168|IGL01403|10|60012458|Disrupted splicing|||MGI:1916340|Ascc1|activating signal cointegrator 1 complex subunit 1 [Source:MGI Symbol;Acc:MGI:1916340]|Heterozygous||A|G|18|38.5|Splice|Alive
6580169|IGL01403|2|121362966|Disrupted splicing|||MGI:99441|Ckmt1|creatine kinase, mitochondrial 1, ubiquitous [Source:MGI Symbol;Acc:MGI:99441]|Heterozygous|Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition.|T|C|12|35.5|Splice|Alive
6580170|IGL01403|17|25788244|Disrupted splicing|||MGI:2685784|Ccdc78|coiled-coil domain containing 78 [Source:MGI Symbol;Acc:MGI:2685784]|Heterozygous||T|A|10|40.0|Splice|Alive
6580784|IGL01404|7|104644480|Y->Stop||N/A|MGI:3030492|Olfr658|olfactory receptor 658 [Source:MGI Symbol;Acc:MGI:3030492]|Heterozygous||A|T|148|39.0|Non-synonymous|Alive
6580786|IGL01404|17|19812434|I->M|1.0|Probably damaging|MGI:3644032|Vmn2r103|vomeronasal 2, receptor 103 [Source:MGI Symbol;Acc:MGI:3644032]|Heterozygous||A|G|104|39.0|Non-synonymous|Alive
6580787|IGL01404|5|136965974|A->V|0.46|Possibly damaging|MGI:95536|Fis1|fission 1 (mitochondrial outer membrane) homolog (yeast) [Source:MGI Symbol;Acc:MGI:1913687]|Heterozygous||C|T|103|36.0|Non-synonymous|Alive
6580790|IGL01404|6|125677970|Q->P|1.0|Probably damaging|MGI:98941|Vwf|Von Willebrand factor homolog [Source:MGI Symbol;Acc:MGI:98941]|Heterozygous|Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood.|A|C|86|38.0|Non-synonymous|Alive
6580792|IGL01404|8|88663736|M->L||Benign|MGI:2429397|Nod2|nucleotide-binding oligomerization domain containing 2 [Source:MGI Symbol;Acc:MGI:2429397]|Heterozygous|Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology and increased susceptibility to induced colitis.|A|T|72|39.0|Non-synonymous|Alive
6580802|IGL01404|17|48321073|Y->C|1.0|Probably damaging|MGI:2443478|B430306n03rik|RIKEN cDNA B430306N03 gene [Source:MGI Symbol;Acc:MGI:2443478]|Heterozygous||A|G|54|36.5|Non-synonymous|Alive
6580803|IGL01404|4|108682151|Y->S|1.0|Probably damaging|MGI:2652838|Zfyve9|zinc finger, FYVE domain containing 9 [Source:MGI Symbol;Acc:MGI:2652838]|Heterozygous||T|G|48|38.0|Non-synonymous|Alive
6580805|IGL01404|18|84877860|S->G|0.08|Benign|MGI:1926952|Cyb5|cytochrome b-5 [Source:MGI Symbol;Acc:MGI:1926952]|Heterozygous|Mice homozygous for a conditional allele exhibit abnormal pharmacokinetics of xenobiotics following cre-mediated recombination.|A|G|47|40.0|Non-synonymous|Alive
6580806|IGL01404|4|114599956|I->V||Benign|MGI:3650152|Gm12824|predicted gene 12824 [Source:MGI Symbol;Acc:MGI:3650152]|Heterozygous||A|G|47|37.0|Non-synonymous|Alive
6580807|IGL01404|17|74445711|I->T|0.92|Possibly damaging|MGI:3036243|Nlrc4|NLR family, CARD domain containing 4 [Source:MGI Symbol;Acc:MGI:3036243]|Heterozygous||A|G|46|39.5|Non-synonymous|Alive
6580808|IGL01404|4|152138444|T->S|0.01|Benign|MGI:1861630|Espn|espin [Source:MGI Symbol;Acc:MGI:1861630]|Heterozygous|Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss.|T|A|46|37.0|Non-synonymous|Alive
6580809|IGL01404|4|134359203|M->V|0.4|Benign|MGI:1888742|Extl1|exostoses (multiple)-like 1 [Source:MGI Symbol;Acc:MGI:1888742]|Heterozygous||T|C|45|35.0|Non-synonymous|Alive
6580811|IGL01404|13|103839464|S->T|0.94|Possibly damaging|MGI:1890169|Erbb2ip|Erbb2 interacting protein [Source:MGI Symbol;Acc:MGI:1890169]|Heterozygous|Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli.|A|T|43|38.0|Non-synonymous|Alive
6580812|IGL01404|4|56829590|D->G|0.99|Probably damaging|MGI:1859649|Ctnnal1|catenin (cadherin associated protein), alpha-like 1 [Source:MGI Symbol;Acc:MGI:1859649]|Heterozygous||T|C|42|37.0|Non-synonymous|Alive
6580813|IGL01404|6|30581702|I->T|0.37|Benign|MGI:1919041|Cpa4|carboxypeptidase A4 [Source:MGI Symbol;Acc:MGI:1919041]|Heterozygous||T|C|42|37.0|Non-synonymous|Alive
6580817|IGL01404|13|63361638|L->F|0.99|Probably damaging|MGI:95480|Fancc|Fanconi anemia, complementation group C [Source:MGI Symbol;Acc:MGI:95480]|Heterozygous|Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability.|G|A|37|40.0|Non-synonymous|Alive
6580819|IGL01404|13|74738287|Y->Stop||N/A|MGI:1098236|Cast|calpastatin [Source:MGI Symbol;Acc:MGI:1098236]|Heterozygous|Mice homozygous for a knockout allele exhibit augmented DNA fragmentation in CA1 pyramidal neurons following excitotoxic kainate treatment.|A|T|35|39.0|Non-synonymous|Alive
6580820|IGL01404|17|55797639|N->I|0.08|Benign|MGI:1196464|Emr4|EGF-like module containing, mucin-like, hormone receptor-like sequence 4 [Source:MGI Symbol;Acc:MGI:1196464]|Heterozygous||A|T|34|38.5|Non-synonymous|Alive
6580821|IGL01404|6|29496639|C->F|1.0|Probably damaging|MGI:2141640|Kcp|kielin/chordin-like protein [Source:MGI Symbol;Acc:MGI:2141640]|Heterozygous|Homozygous null mice display increased sensitivity to renal injury.|C|A|33|35.0|Non-synonymous|Alive
6580824|IGL01404|4|155654936|E->V|0.99|Probably damaging|MGI:2679684|Mib2|mindbomb homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:2679684]|Heterozygous||T|A|30|37.0|Non-synonymous|Alive
6580825|IGL01404|11|4116710|D->G|0.99|Probably damaging|MGI:1915065|Sec14l2|SEC14-like 2 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1915065]|Heterozygous|Mice homozygous for a null allele exhibit decreased cholesterol synthesis and plasma levels under fasting conditions compared to wild-type mice.|T|C|27|38.0|Non-synonymous|Alive
6580826|IGL01404|11|67222151|R->L|0.59|Possibly damaging|MGI:1339711|Myh1|myosin, heavy polypeptide 1, skeletal muscle, adult [Source:MGI Symbol;Acc:MGI:1339711]|Heterozygous|Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation.|G|T|26|38.5|Non-synonymous|Alive
6580830|IGL01404|4|119132238|M->K|0.87|Possibly damaging|MGI:95755|Slc2a1|solute carrier family 2 (facilitated glucose transporter), member 1 [Source:MGI Symbol;Acc:MGI:95755]|Heterozygous|Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake.|T|A|21|38.0|Non-synonymous|Alive
6580833|IGL01404|1|37154036|T->I|||MGI:1918103|Vwa3b|von Willebrand factor A domain containing 3B [Source:MGI Symbol;Acc:MGI:1918103]|Heterozygous||C|T|17|40.0|Non-synonymous|Alive
6580834|IGL01404|11|58346060|H->L|0.01|Benign|MGI:1933124|Sh3bp5l|SH3 binding domain protein 5 like [Source:MGI Symbol;Acc:MGI:1933124]|Heterozygous||A|T|17|35.0|Non-synonymous|Alive
6580840|IGL01404|11|68752040|Disrupted splicing|||MGI:1930780|Myh10|myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, cardiac abnormalities, and hydroencephaly.|T|C|90|39.0|Splice|Alive
6580846|IGL01404|10|19894811|Disrupted splicing|||MGI:1321392|Pex7|peroxisomal biogenesis factor 7 [Source:MGI Symbol;Acc:MGI:1321392]|Heterozygous|Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis.|G|T|36|39.0|Splice|Alive
6580848|IGL01404|14|66077210|Disrupted splicing|||MGI:1340894|Adam2|a disintegrin and metallopeptidase domain 2 [Source:MGI Symbol;Acc:MGI:1340894]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene are viable, females are fertile, but males have severely reduced fertility. Mutant male sperm are defective in sperm-egg membrane adhesion, sperm-egg fusion, migration from the uterus to the oviduct, and binding to the egg zona pellucida.|C|T|27|40.0|Splice|Alive
6580849|IGL01404|12|71164378|Disrupted splicing|||MGI:1924217|2700049a03rik|RIKEN cDNA 2700049A03 gene [Source:MGI Symbol;Acc:MGI:1924217]|Heterozygous||T|A|25|39.0|Splice|Alive
6581454|IGL01405|8|3495663|D->N|0.01|Benign|MGI:2153740|Zfp358|zinc finger protein 358 [Source:MGI Symbol;Acc:MGI:2153740]|Heterozygous||G|A|171|38.0|Non-synonymous|Alive
6581455|IGL01405|14|14100105|V->A||Benign|MGI:2179277|Atxn7|ataxin 7 [Source:MGI Symbol;Acc:MGI:2179277]|Heterozygous|Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age.|T|C|164|35.0|Non-synonymous|Alive
6581456|IGL01405|13|100221945|S->T|0.03|Benign|MGI:1298220|Naip5|NLR family, apoptosis inhibitory protein 5 [Source:MGI Symbol;Acc:MGI:1298220]|Heterozygous|This locus controls resistance to Legionella pneumophila, the organism responsible for Legionnaire's disease. Cultured peritoneal macrophages from A/J mice are susceptible, supporting bacterial proliferation; other strains, e.g., C57BL/6 are resistant.|A|T|116|38.0|Non-synonymous|Alive
6581457|IGL01405|17|35964010|R->W|1.0|Probably damaging|MGI:1351658|Abcf1|ATP-binding cassette, sub-family F (GCN20), member 1 [Source:MGI Symbol;Acc:MGI:1351658]|Heterozygous||G|A|115|38.0|Non-synonymous|Alive
6581458|IGL01405|9|19585205|S->T|0.33|Benign|MGI:3030689|Olfr855|olfactory receptor 855 [Source:MGI Symbol;Acc:MGI:3030689]|Heterozygous||T|A|98|39.0|Non-synonymous|Alive
6581459|IGL01405|7|80360934|M->L||Benign|MGI:2150656|Man2a2|mannosidase 2, alpha 2 [Source:MGI Symbol;Acc:MGI:2150656]|Heterozygous|Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis.|T|A|89|36.0|Non-synonymous|Alive
6581460|IGL01405|10|40585195|T->M|0.99|Probably damaging|MGI:1918090|Slc22a16|solute carrier family 22 (organic cation transporter), member 16 [Source:MGI Symbol;Acc:MGI:1918090]|Heterozygous||C|T|84|38.5|Non-synonymous|Alive
6581461|IGL01405|5|31261852|Y->Stop||N/A|MGI:2682064|Ift172|intraflagellar transport 172 [Source:MGI Symbol;Acc:MGI:2682064]|Heterozygous||G|T|82|39.0|Non-synonymous|Alive
6581462|IGL01405|11|69969136|R->G|0.83|Possibly damaging|MGI:1859017|Elp5|elongator acetyltransferase complex subunit 5 [Source:MGI Symbol;Acc:MGI:1859017]|Heterozygous||T|C|76|40.0|Non-synonymous|Alive
6581463|IGL01405|13|14003695|I->N|1.0|Probably damaging|MGI:1917680|Tbce|tubulin-specific chaperone E [Source:MGI Symbol;Acc:MGI:1917680]|Heterozygous|Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected.|A|T|68|39.0|Non-synonymous|Alive
6581464|IGL01405|17|28204506|S->P||Benign|MGI:2687278|Zfp523|zinc finger protein 523 [Source:MGI Symbol;Acc:MGI:2687278]|Heterozygous||T|C|55|37.0|Non-synonymous|Alive
6581465|IGL01405|5|32937689|E->G|0.83|Possibly damaging|MGI:2141101|Depdc5|DEP domain containing 5 [Source:MGI Symbol;Acc:MGI:2141101]|Heterozygous||A|G|55|40.0|Non-synonymous|Alive
6581466|IGL01405|10|79711514|M->K||Benign|MGI:88208|Bsg|basigin [Source:MGI Symbol;Acc:MGI:88208]|Heterozygous|Most homozygous null mutants die near the time of implantation. Half of the survivors die prior to 1 month of age from interstitial pneumonia. The remaining mice are small, sterile, have retinal abnormalities, and perform poorly in behavioral tests.|T|A|50|38.5|Non-synonymous|Alive
6581467|IGL01405|9|72610344|M->V|||MGI:2442675|Rfx7|regulatory factor X, 7 [Source:MGI Symbol;Acc:MGI:2442675]|Heterozygous||A|G|49|39.0|Non-synonymous|Alive
6581468|IGL01405|10|127245990|N->S|1.0|Probably damaging|MGI:109564|Kif5a|kinesin family member 5A [Source:MGI Symbol;Acc:MGI:109564]|Heterozygous|Homozygotes for a targeted null mutation die at birth. Most mutants for a postnatal conditional knockout allele exhibit fatal seizures around 3 weeks of age, but about 1/4 survive to 3 months or older.|T|C|44|37.0|Non-synonymous|Alive
6581469|IGL01405|4|138311703|D->G|0.99|Probably damaging|MGI:1194508|Ddost|dolichyl-di-phosphooligosaccharide-protein glycotransferase [Source:MGI Symbol;Acc:MGI:1194508]|Heterozygous||A|G|43|37.0|Non-synonymous|Alive
6581470|IGL01405|11|83214716|V->A|0.89|Possibly damaging|MGI:1329005|Slfn3|schlafen 3 [Source:MGI Symbol;Acc:MGI:1329005]|Heterozygous|Mice homozygous for a targeted allele exhibit normal immune cell populations.|T|C|41|39.0|Non-synonymous|Alive
6581471|IGL01405|18|80192865|V->A|0.01|Benign|MGI:1915981|Rbfa|ribosome binding factor A [Source:MGI Symbol;Acc:MGI:1915981]|Heterozygous||A|G|40|35.0|Non-synonymous|Alive
6581472|IGL01405|4|155543188|H->R|1.0|Probably damaging|MGI:95781|Gnb1|guanine nucleotide binding protein (G protein), beta 1 [Source:MGI Symbol;Acc:MGI:95781]|Heterozygous|The distal break point for the In(4)56Rk inversion is located within this gene. This inversion is associated with the phenotypic marker Rd4. These mice have an abnormal retanl morphology. Homozygous mutant of this gene results in prenatal or perinatal lethality with exencephaly or smaller brain.|A|G|39|38.0|Non-synonymous|Alive
6581473|IGL01405|2|120266823|N->S|0.03|Benign|MGI:1925640|Pla2g4d|phospholipase A2, group IVD [Source:MGI Symbol;Acc:MGI:1925640]|Heterozygous||T|C|36|38.0|Non-synonymous|Alive
6581474|IGL01405|3|136868721|I->V|0.05|Benign|MGI:107164|Ppp3ca|protein phosphatase 3, catalytic subunit, alpha isoform [Source:MGI Symbol;Acc:MGI:107164]|Heterozygous|Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers.|A|G|36|39.0|Non-synonymous|Alive
6581475|IGL01405|13|55412128|S->P|1.0|Probably damaging|MGI:1345284|Slc34a1|solute carrier family 34 (sodium phosphate), member 1 [Source:MGI Symbol;Acc:MGI:1345284]|Heterozygous|Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status.|T|C|35|37.0|Non-synonymous|Alive
6581476|IGL01405|17|87678235|L->P|1.0|Probably damaging|MGI:101816|Msh2|mutS homolog 2 (E. coli) [Source:MGI Symbol;Acc:MGI:101816]|Heterozygous|Mice homozygous for a number of different targeted mutations develop lymphomas. In addition, depending on the allele, mutants may show intestinal adenocarcinomas and reduced class switch recombination or adenocarcinomas and abnormal mismatch repair or squamous cell carcinomas and skin tumors.|T|C|31|39.0|Non-synonymous|Alive
6581477|IGL01405|12|117721380|T->K|0.49|Possibly damaging|MGI:2444365|Rapgef5|Rap guanine nucleotide exchange factor (GEF) 5 [Source:MGI Symbol;Acc:MGI:2444365]|Heterozygous||C|A|29|39.0|Non-synonymous|Alive
6581478|IGL01405|2|135950347|T->I|1.0|Probably damaging|MGI:107464|Plcb4|phospholipase C, beta 4 [Source:MGI Symbol;Acc:MGI:107464]|Heterozygous|Homozygotes for targeted mutations may exhibit ataxia, impaired elimination of excess climbing fiber synapses in the developing cerebellum, abnormal cerebellar foliation, reduced visual processing ability and loss of circadian rhythm in constant darkness.|C|T|26|39.0|Non-synonymous|Alive
6581479|IGL01405|8|71967934|N->S|0.11|Benign|MGI:3583954|Zfp961|zinc finger protein 961 [Source:MGI Symbol;Acc:MGI:3583954]|Heterozygous||A|G|21|36.0|Non-synonymous|Alive
6581480|IGL01405|8|106649001|V->A|1.0|Probably damaging|MGI:88354|Cdh1|cadherin 1 [Source:MGI Symbol;Acc:MGI:88354]|Heterozygous|In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.|T|C|19|35.0|Non-synonymous|Alive
6581482|IGL01405|19|29567370|Disrupted splicing|||MGI:1924893|C030046e11rik|RIKEN cDNA C030046E11 gene [Source:MGI Symbol;Acc:MGI:1924893]|Heterozygous||T|C|43|38.0|Splice|Alive
6581483|IGL01405|5|108202186|Disrupted splicing|||MGI:1922974|Ccdc18|coiled-coil domain containing 18 [Source:MGI Symbol;Acc:MGI:1922974]|Heterozygous||T|C|16|38.0|Splice|Alive
6582073|IGL01406|8|104618412|I->N|0.94|Possibly damaging|MGI:106671|Cdh16|cadherin 16 [Source:MGI Symbol;Acc:MGI:106671]|Heterozygous||A|T|80|39.0|Non-synonymous|Alive
6582074|IGL01406|5|8130212|Q->Stop||N/A|MGI:1340046|Adam22|a disintegrin and metallopeptidase domain 22 [Source:MGI Symbol;Acc:MGI:1340046]|Heterozygous|Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves.|G|A|72|37.0|Non-synonymous|Alive
6582075|IGL01406|14|52622987|L->P|||MGI:3815062|Trav5-1|T cell receptor alpha variable 5-1 [Source:MGI Symbol;Acc:MGI:3815062]|Heterozygous||T|C|65|38.0|Non-synonymous|Alive
6582076|IGL01406|15|101568025|Y->C|1.0|Probably damaging|MGI:1923500|Krt75|keratin 75 [Source:MGI Symbol;Acc:MGI:1923500]|Heterozygous|Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita.|T|C|47|37.0|Non-synonymous|Alive
6582077|IGL01406|5|31195994|Y->C|0.96|Probably damaging|MGI:2387801|Snx17|sorting nexin 17 [Source:MGI Symbol;Acc:MGI:2387801]|Heterozygous||A|G|44|37.5|Non-synonymous|Alive
6582078|IGL01406|15|9508214|R->Stop||N/A|MGI:96562|Il7r|interleukin 7 receptor [Source:MGI Symbol;Acc:MGI:96562]|Heterozygous||T|A|40|37.0|Non-synonymous|Alive
6582079|IGL01406|10|30690840|D->G|1.0|Probably damaging|MGI:2444847|Ncoa7|nuclear receptor coactivator 7 [Source:MGI Symbol;Acc:MGI:2444847]|Heterozygous||T|C|39|40.0|Non-synonymous|Alive
6582080|IGL01406|6|91266392|S->P|1.0|Probably damaging|MGI:95488|Fbln2|fibulin 2 [Source:MGI Symbol;Acc:MGI:95488]|Heterozygous|Mice homozygous for a knock-out alle are viable, fertile and grossly normal with no apparent defects in elastic fiber formation in the aorta and skin.|T|C|38|38.0|Non-synonymous|Alive
6582081|IGL01406|8|11218898|D->G|1.0|Probably damaging|MGI:88454|Col4a1|collagen, type IV, alpha 1 [Source:MGI Symbol;Acc:MGI:88454]|Heterozygous|Mice with ENU induced mutations of this gene display various eye and vision defects. Newborn mutants may also exhibit bruises.|T|C|35|37.0|Non-synonymous|Alive
6582082|IGL01406|17|43037946|C->S|1.0|Probably damaging|MGI:2151075|Tnfrsf21|tumor necrosis factor receptor superfamily, member 21 [Source:MGI Symbol;Acc:MGI:2151075]|Heterozygous||T|A|33|38.0|Non-synonymous|Alive
6582083|IGL01406|8|55871839|Y->N|||MGI:2676326|Adam29|a disintegrin and metallopeptidase domain 29 [Source:MGI Symbol;Acc:MGI:2676326]|Heterozygous||A|T|33|40.0|Non-synonymous|Alive
6582084|IGL01406|9|87713543|D->V|||MGI:1923615|Tbx18|T-box18 [Source:MGI Symbol;Acc:MGI:1923615]|Heterozygous|Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib, and spinal nerve morphology.|T|A|33|39.0|Non-synonymous|Alive
6582085|IGL01406|11|83889124|P->S|0.19|Benign|MGI:98505|Hnf1b|HNF1 homeobox B [Source:MGI Symbol;Acc:MGI:98505]|Heterozygous|Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality.|C|T|29|35.0|Non-synonymous|Alive
6582086|IGL01406|8|93071994|N->S|1.0|Probably damaging|MGI:3779470|Ces1b|carboxylesterase 1B [Source:MGI Symbol;Acc:MGI:3779470]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive
6582087|IGL01406|5|143202411|P->S|0.95|Possibly damaging|MGI:3612701|4933411g11rik|RIKEN cDNA 4933411G11Rik gene [Source:MGI Symbol;Acc:MGI:3612701]|Heterozygous||C|T|26|35.5|Non-synonymous|Alive
6582088|IGL01406|1|143647106|I->L|0.88|Possibly damaging|MGI:1349461, MGI:2384876|Cdc73,b3galt2|cell division cycle 73, Paf1/RNA polymerase II complex component [Source:MGI Symbol;Acc:MGI:2384876],UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 [Source:MGI Symbol;Acc:MGI:1349461]|Heterozygous|Homozygous mice for a targeted mutation display hyperactivity, impaired motor coordination, decreased anxiety, increased startle reflexes, and decreased coping response.,Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation.|A|T|25|39.0|Non-synonymous|Alive
6582089|IGL01406|19|10791137|A->E|0.39|Benign|MGI:103566|Cd6|CD6 antigen [Source:MGI Symbol;Acc:MGI:103566]|Heterozygous||G|T|25|38.0|Non-synonymous|Alive
6582090|IGL01406|4|58367539|Y->H|0.99|Probably damaging|MGI:103581|Musk|muscle, skeletal, receptor tyrosine kinase [Source:MGI Symbol;Acc:MGI:103581]|Heterozygous|Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.|T|C|24|37.0|Non-synonymous|Alive
6582091|IGL01406|12|64995578|D->G|||MGI:2684313|Fam179b|family with sequence similarity 179, member B [Source:MGI Symbol;Acc:MGI:2684313]|Heterozygous||A|G|23|38.0|Non-synonymous|Alive
6582092|IGL01406|13|117268930|D->V|0.96|Probably damaging|MGI:95321|Emb|embigin [Source:MGI Symbol;Acc:MGI:95321]|Heterozygous||A|T|19|40.0|Non-synonymous|Alive
6582093|IGL01406|2|145915806|M->V|1.0|Probably damaging|MGI:1915127|Naa20|N(alpha)-acetyltransferase 20, NatB catalytic subunit [Source:MGI Symbol;Acc:MGI:1915127]|Heterozygous||A|G|19|40.0|Non-synonymous|Alive
6582094|IGL01406|3|53525896|Y->C|1.0|Probably damaging|MGI:2444465|Frem2|Fras1 related extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:2444465]|Heterozygous|Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.|T|C|17|36.0|Non-synonymous|Alive
6582095|IGL01406|6|140572950|R->H|0.01|Benign|MGI:1923802|Plekha5|pleckstrin homology domain containing, family A member 5 [Source:MGI Symbol;Acc:MGI:1923802]|Heterozygous||G|A|16|38.0|Non-synonymous|Alive
6582096|IGL01406|9|53439746|Stop->W||N/A|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|T|C|16|36.5|Non-synonymous|Alive
6582097|IGL01406|11|103194690|I->T||Unknown|MGI:1888994|Fmnl1|formin-like 1 [Source:MGI Symbol;Acc:MGI:1888994]|Heterozygous||T|C|13|37.0|Non-synonymous|Alive
6582098|IGL01406|4|128616339|L->Stop||N/A|MGI:3045221|Tlr12|toll-like receptor 12 [Source:MGI Symbol;Acc:MGI:3045221]|Heterozygous||A|T|12|40.0|Non-synonymous|Alive
6582099|IGL01406|14|4087137|Disrupted splicing|||MGI:3781291|Gm3115|predicted gene 3115 [Source:MGI Symbol;Acc:MGI:3781291]|Heterozygous||T|A|191|40.0|Splice|Alive
6582100|IGL01406|7|86163292|Disrupted splicing|||MGI:3648311|Vmn2r75|vomeronasal 2, receptor 75 [Source:MGI Symbol;Acc:MGI:3648311]|Heterozygous||T|A|43|39.0|Splice|Alive
6582101|IGL01406|16|66815304|Disrupted splicing|||MGI:2442722|Cadm2|cell adhesion molecule 2 [Source:MGI Symbol;Acc:MGI:2442722]|Heterozygous||C|A|34|38.0|Splice|Alive
6582102|IGL01406|1|54533414|Disrupted splicing|||MGI:2443342|Pgap1|post-GPI attachment to proteins 1 [Source:MGI Symbol;Acc:MGI:2443342]|Heterozygous|Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive.|C|T|31|40.0|Splice|Alive
6582104|IGL01406|13|93687031|Disrupted splicing|||MGI:1921379|Dmgdh|dimethylglycine dehydrogenase precursor [Source:MGI Symbol;Acc:MGI:1921379]|Heterozygous||G|A|20|38.5|Splice|Alive
6582722|IGL01407|11|99541219|C->Y|0.98|Probably damaging|MGI:3629968|Krt40|keratin 40 [Source:MGI Symbol;Acc:MGI:3629968]|Heterozygous||C|T|145|37.0|Non-synonymous|Alive
6582723|IGL01407|13|56735817|V->I||Benign|MGI:1328787|Smad5|SMAD family member 5 [Source:MGI Symbol;Acc:MGI:1328787]|Heterozygous|Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5.|G|A|100|40.0|Non-synonymous|Alive
6582724|IGL01407|6|98017931|T->K|0.89|Possibly damaging|MGI:104554|Mitf|microphthalmia-associated transcription factor [Source:MGI Symbol;Acc:MGI:104554]|Heterozygous|Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality.|C|A|99|38.0|Non-synonymous|Alive
6582725|IGL01407|4|98413050|T->A|0.97|Probably damaging|MGI:1277960|Inadl|InaD-like (Drosophila) [Source:MGI Symbol;Acc:MGI:1277960]|Heterozygous||A|G|97|38.0|Non-synonymous|Alive
6582726|IGL01407|6|123329867|F->I|||MGI:3647444|Vmn2r19|vomeronasal 2, receptor 19 [Source:MGI Symbol;Acc:MGI:3647444]|Heterozygous||T|A|96|39.0|Non-synonymous|Alive
6582727|IGL01407|8|70101957|R->H|0.28|Benign|MGI:104694|Ncan|neurocan [Source:MGI Symbol;Acc:MGI:104694]|Heterozygous|Mice homozygous for targeted null mutations are viable and fertile and exhibit normal behavior and brain anatomy; however, mild defects in long term potentiation were noted.|C|T|93|35.0|Non-synonymous|Alive
6582728|IGL01407|14|100109858|N->K||Benign|MGI:1333796|Klf12|Kruppel-like factor 12 [Source:MGI Symbol;Acc:MGI:1333796]|Heterozygous||A|T|86|38.5|Non-synonymous|Alive
6582729|IGL01407|2|20743856|L->S|1.0|Probably damaging|MGI:95454|Etl4|enhancer trap locus 4 [Source:MGI Symbol;Acc:MGI:95454]|Heterozygous||T|C|85|37.0|Non-synonymous|Alive
6582730|IGL01407|8|71537186|R->L|0.67|Possibly damaging|MGI:1916800|Bst2|bone marrow stromal cell antigen 2 [Source:MGI Symbol;Acc:MGI:1916800]|Heterozygous||C|A|78|37.5|Non-synonymous|Alive
6582731|IGL01407|1|105589302|V->A|||MGI:1351629|Pign|phosphatidylinositol glycan anchor biosynthesis, class N [Source:MGI Symbol;Acc:MGI:1351629]|Heterozygous||A|G|67|39.0|Non-synonymous|Alive
6582732|IGL01407|2|105792308|R->W|1.0|Probably damaging|MGI:1925016|Elp4|elongation protein 4 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1925016]|Heterozygous||G|A|67|40.0|Non-synonymous|Alive
6582733|IGL01407|6|24876407|S->I|0.43|Benign|MGI:1921718|Hyal5|hyaluronoglucosaminidase 5 [Source:MGI Symbol;Acc:MGI:1921718]|Heterozygous|Reproduction is normal in mice with null mutations at this marker.|G|T|65|39.0|Non-synonymous|Alive
6582734|IGL01407|9|123828879|A->D|0.99|Probably damaging|MGI:107277|Fyco1|FYVE and coiled-coil domain containing 1 [Source:MGI Symbol;Acc:MGI:107277]|Heterozygous||G|T|59|35.0|Non-synonymous|Alive
6582735|IGL01407|17|48264849|D->E|0.86|Possibly damaging|MGI:1923239|Treml4|triggering receptor expressed on myeloid cells-like 4 [Source:MGI Symbol;Acc:MGI:1923239]|Heterozygous||T|A|53|37.0|Non-synonymous|Alive
6582736|IGL01407|11|69817239|Y->F|0.1|Benign|MGI:1918293|4933402p03rik|RIKEN cDNA 4933402P03 gene [Source:MGI Symbol;Acc:MGI:1918293]|Heterozygous||T|A|51|36.0|Non-synonymous|Alive
6582737|IGL01407|10|36833408|H->L|1.0|Probably damaging|MGI:2441996|Hs3st5|heparan sulfate (glucosamine) 3-O-sulfotransferase 5 [Source:MGI Symbol;Acc:MGI:2441996]|Heterozygous||A|T|49|35.0|Non-synonymous|Alive
6582738|IGL01407|11|29755021|R->Stop||N/A|MGI:2442895|Eml6|echinoderm microtubule associated protein like 6 [Source:MGI Symbol;Acc:MGI:2442895]|Heterozygous||G|A|49|38.0|Non-synonymous|Alive
6582739|IGL01407|7|43584187|K->I|0.01|Benign|MGI:2444708|Zfp719|zinc finger protein 719 [Source:MGI Symbol;Acc:MGI:2444708]|Heterozygous||A|T|47|40.0|Non-synonymous|Alive
6582740|IGL01407|9|49400815|I->T|1.0|Probably damaging|MGI:94924|Drd2|dopamine receptor D2 [Source:MGI Symbol;Acc:MGI:94924]|Heterozygous|Homozygous null mice show Parkinson's disease like symptoms, including akinetic and bradykinetic behavior. Mice lacking only the long isoform are hypoactive and exhibit increased sterotypic behavior in response to dopamine agonists.|T|C|46|39.0|Non-synonymous|Alive
6582741|IGL01407|9|16378023|I->K||Benign|MGI:2444314|Fat3|FAT tumor suppressor homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:2444314]|Heterozygous||A|T|45|39.0|Non-synonymous|Alive
6582742|IGL01407|13|64062905|Y->C|0.99|Probably damaging|MGI:107177|Hsd17b3|hydroxysteroid (17-beta) dehydrogenase 3 [Source:MGI Symbol;Acc:MGI:107177]|Heterozygous||T|C|41|39.0|Non-synonymous|Alive
6582743|IGL01407|3|19977205|D->V|0.62|Possibly damaging|MGI:88476|Cp|ceruloplasmin [Source:MGI Symbol;Acc:MGI:88476]|Heterozygous|Homozygotes for targeted null mutations exhibit progressive accumulation of stored iron in the liver, spleen, cerebellum, and brainstem, mild iron deficiency anemia, and impaired motor coordination associated with loss of brainstem dopaminergic neurons.|A|T|40|39.0|Non-synonymous|Alive
6582745|IGL01407|7|144637111|L->H|||MGI:2142149|Ano1|anoctamin 1, calcium activated chloride channel [Source:MGI Symbol;Acc:MGI:2142149]|Heterozygous|Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology.|A|T|35|38.0|Non-synonymous|Alive
6582746|IGL01407|2|69245944|D->V|1.0|Probably damaging|MGI:1351619|Abcb11|ATP-binding cassette, sub-family B (MDR/TAP), member 11 [Source:MGI Symbol;Acc:MGI:1351619]|Heterozygous|Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis.|T|A|33|37.0|Non-synonymous|Alive
6582747|IGL01407|8|128722834|V->A|0.32|Benign|MGI:96610|Itgb1|integrin beta 1 (fibronectin receptor beta) [Source:MGI Symbol;Acc:MGI:96610]|Heterozygous|Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively.|T|C|33|37.0|Non-synonymous|Alive
6582748|IGL01407|13|67042166|Q->L||Benign|MGI:1925501|Zfp712|zinc finger protein 712 [Source:MGI Symbol;Acc:MGI:1925501]|Heterozygous||T|A|32|40.0|Non-synonymous|Alive
6582749|IGL01407|9|111364722|S->A|0.52|Possibly damaging|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|G|32|38.0|Non-synonymous|Alive
6582750|IGL01407|2|32947903|Y->C||Benign|MGI:2684789|Lrsam1|leucine rich repeat and sterile alpha motif containing 1 [Source:MGI Symbol;Acc:MGI:2684789]|Heterozygous||T|C|22|37.5|Non-synonymous|Alive
6582751|IGL01407|1|132937227|L->P|0.99|Probably damaging|MGI:106037|Lrrn2|leucine rich repeat protein 2, neuronal [Source:MGI Symbol;Acc:MGI:106037]|Heterozygous||T|C|20|38.0|Non-synonymous|Alive
6582752|IGL01407|15|58104525|N->K|||MGI:1917722|Atad2|ATPase family, AAA domain containing 2 [Source:MGI Symbol;Acc:MGI:1917722]|Heterozygous||A|T|20|38.0|Non-synonymous|Alive
6582753|IGL01407|9|55004399|T->M|0.06|Benign|MGI:87889|Chrna5|cholinergic receptor, nicotinic, alpha polypeptide 5 [Source:MGI Symbol;Acc:MGI:87889]|Heterozygous|Mice homozygous for a knock-out allele are less sensitive to nicotine-induced seizures than wild-type controls and exhibit a significantly shorter latency time to seizure.|C|T|19|33.0|Non-synonymous|Alive
6582754|IGL01407|4|48083201|E->G||Benign|MGI:1352457|Nr4a3|nuclear receptor subfamily 4, group A, member 3 [Source:MGI Symbol;Acc:MGI:1352457]|Heterozygous|Mice homozygous for a null allele exhibit defects in the semicircular canals of the inner ear and bidirectional circling behavior. Mice homozygous for another null allele display embryonic lethality with impaired cell migration during gastrulation.|A|G|18|35.5|Non-synonymous|Alive
6582755|IGL01407|8|120553587|M->T||Unknown|MGI:5141853, MGI:1098275|Gse1,gm20388|genetic suppressor element 1 [Source:MGI Symbol;Acc:MGI:1098275],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||T|C|17|37.0|Non-synonymous|Alive
6582756|IGL01407|3|58416503|V->E||Unknown|MGI:1919283|Tsc22d2|TSC22 domain family, member 2 [Source:MGI Symbol;Acc:MGI:1919283]|Heterozygous||T|A|12|33.5|Non-synonymous|Alive
6582757|IGL01407|2|32633495|Disrupted splicing|||MGI:87977|Ak1|adenylate kinase 1 [Source:MGI Symbol;Acc:MGI:87977]|Heterozygous|Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction.|G|T|72|36.5|Splice|Alive
6582758|IGL01407|3|64105465|Disrupted splicing|||MGI:3645892|Vmn2r1|vomeronasal 2, receptor 1 [Source:MGI Symbol;Acc:MGI:3645892]|Heterozygous||G|T|45|40.0|Splice|Alive
6583348|IGL01408|1|14889413|E->G|0.01|Benign|MGI:3522699|Trpa1|transient receptor potential cation channel, subfamily A, member 1 [Source:MGI Symbol;Acc:MGI:3522699]|Heterozygous||T|C|132|40.0|Non-synonymous|Alive
6583349|IGL01408|7|104644929|I->F|0.46|Possibly damaging|MGI:3030492|Olfr658|olfactory receptor 658 [Source:MGI Symbol;Acc:MGI:3030492]|Heterozygous||T|A|86|39.0|Non-synonymous|Alive
6583350|IGL01408|19|27768650|D->E|0.02|Benign|MGI:106582|Rfx3|regulatory factor X, 3 (influences HLA class II expression) [Source:MGI Symbol;Acc:MGI:106582]|Heterozygous|Homozygous null mice display embryonic and perinatal lethality, impaired development of cilia on the embryonic node, abnormal left-right patterning, meso- and dextrocardia, and situs inversus in surviving adults.|A|T|68|37.0|Non-synonymous|Alive
6583351|IGL01408|X|106432772|E->K|0.38|Benign|MGI:2685630|Fndc3c1|fibronectin type III domain containing 3C1 [Source:MGI Symbol;Acc:MGI:2685630]|Heterozygous||C|T|62|40.0|Non-synonymous|Alive
6583352|IGL01408|1|136626115|V->A|1.0|Probably damaging|MGI:3029290|Zfp281|zinc finger protein 281 [Source:MGI Symbol;Acc:MGI:3029290]|Heterozygous||T|C|61|38.0|Non-synonymous|Alive
6583353|IGL01408|15|39793306|V->A|0.01|Benign|MGI:1928679|Dpys|dihydropyrimidinase [Source:MGI Symbol;Acc:MGI:1928679]|Heterozygous||A|G|58|37.0|Non-synonymous|Alive
6583354|IGL01408|9|111214216|T->A||Benign|MGI:1918518|Lrrfip2|leucine rich repeat (in FLII) interacting protein 2 [Source:MGI Symbol;Acc:MGI:1918518]|Heterozygous||A|G|56|39.0|Non-synonymous|Alive
6583355|IGL01408|7|85872247|D->G|0.95|Possibly damaging|MGI:3646433|Vmn2r73|vomeronasal 2, receptor 73 [Source:MGI Symbol;Acc:MGI:3646433]|Heterozygous||T|C|55|39.0|Non-synonymous|Alive
6583356|IGL01408|12|76613147|I->N|0.96|Probably damaging|MGI:98387|Spnb1|spectrin beta 1 [Source:MGI Symbol;Acc:MGI:98387]|Heterozygous|Homozygotes for a spontaneous mutation exhibit a severe microcytic anemia with erythrocyte fragility, hepatomegaly, and jaundice. Mutants die within a few days of birth. Heterozygotes are mildly anemic.|A|T|54|36.5|Non-synonymous|Alive
6583357|IGL01408|6|17099879|Y->F|1.0|Probably damaging|MGI:105081|Tes|testis derived transcript [Source:MGI Symbol;Acc:MGI:105081]|Heterozygous|Homozygous and heterozygous null mice display small forestomachs with thickened epithelium and increased tumor incidence and malignancy.|A|T|54|37.0|Non-synonymous|Alive
6583358|IGL01408|11|71122916|T->S||Benign|MGI:2684861|Nlrp1a|NLR family, pyrin domain containing 1A [Source:MGI Symbol;Acc:MGI:2684861]|Heterozygous||T|A|53|39.0|Non-synonymous|Alive
6583359|IGL01408|9|57141600|Y->C|1.0|Probably damaging|MGI:1920994|Man2c1|mannosidase, alpha, class 2C, member 1 [Source:MGI Symbol;Acc:MGI:1920994]|Heterozygous||A|G|53|38.0|Non-synonymous|Alive
6583360|IGL01408|15|77389330|A->T|1.0|Probably damaging|MGI:1923011|Apol7a|apolipoprotein L 7a [Source:MGI Symbol;Acc:MGI:1923011]|Heterozygous||C|T|52|37.0|Non-synonymous|Alive
6583361|IGL01408|2|72174841|R->Stop||N/A|MGI:1917723|Rapgef4|Rap guanine nucleotide exchange factor (GEF) 4 [Source:MGI Symbol;Acc:MGI:1917723]|Heterozygous|Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis.|C|T|47|39.0|Non-synonymous|Alive
6583362|IGL01408|7|104880830|V->A|0.02|Benign|MGI:3030499|Olfr665|olfactory receptor 665 [Source:MGI Symbol;Acc:MGI:3030499]|Heterozygous||T|C|46|39.0|Non-synonymous|Alive
6583363|IGL01408|2|77045679|A->V|||MGI:1919735|Ccdc141|coiled-coil domain containing 141 [Source:MGI Symbol;Acc:MGI:1919735]|Heterozygous||G|A|45|35.0|Non-synonymous|Alive
6583364|IGL01408|2|164189661|Stop->R||N/A|MGI:2183434|Wfdc12|WAP four-disulfide core domain 12 [Source:MGI Symbol;Acc:MGI:2183434]|Heterozygous||A|G|42|38.0|Non-synonymous|Alive
6583365|IGL01408|4|33944802|I->V|0.42|Benign|MGI:104615|Cnr1|cannabinoid receptor 1 (brain) [Source:MGI Symbol;Acc:MGI:104615]|Heterozygous|Mice homozygous for a null allele exhibit abnormal behaviors and altered long term depression.|A|G|34|38.5|Non-synonymous|Alive
6583366|IGL01408|11|115260882|L->P|0.98|Probably damaging|MGI:95822|Grin2c|glutamate receptor, ionotropic, NMDA2C (epsilon 3) [Source:MGI Symbol;Acc:MGI:95822]|Heterozygous|Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices.|A|G|33|35.0|Non-synonymous|Alive
6583367|IGL01408|6|136698011|F->L||Benign|MGI:106903|Gucy2c|guanylate cyclase 2c [Source:MGI Symbol;Acc:MGI:106903]|Heterozygous|Homozygous null mice are viable and have an increased resistance to heat-stable enterotoxins.|A|G|33|38.0|Non-synonymous|Alive
6583368|IGL01408|18|84670911|C->G||Benign|MGI:1913304|Cndp2|CNDP dipeptidase 2 (metallopeptidase M20 family) [Source:MGI Symbol;Acc:MGI:1913304]|Heterozygous||A|C|30|37.0|Non-synonymous|Alive
6583369|IGL01408|13|93709295|P->S|1.0|Probably damaging|MGI:1921379|Dmgdh|dimethylglycine dehydrogenase precursor [Source:MGI Symbol;Acc:MGI:1921379]|Heterozygous||C|T|26|37.5|Non-synonymous|Alive
6583370|IGL01408|13|4577432|M->K||Benign|MGI:1924587|Akr1c21|aldo-keto reductase family 1, member C21 [Source:MGI Symbol;Acc:MGI:1924587]|Heterozygous||T|A|25|37.0|Non-synonymous|Alive
6583371|IGL01408|7|51669115|K->E|0.95|Possibly damaging|MGI:2156052|Slc17a6|solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 [Source:MGI Symbol;Acc:MGI:2156052]|Heterozygous|Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain.|A|G|23|39.0|Non-synonymous|Alive
6583372|IGL01408|13|6573042|C->S|1.0|Probably damaging|MGI:1916867|Pitrm1|pitrilysin metallepetidase 1 [Source:MGI Symbol;Acc:MGI:1916867]|Heterozygous||T|A|19|37.0|Non-synonymous|Alive
6583374|IGL01408|11|28339473|N->K|0.6|Possibly damaging|MGI:3704119|Gm6685|predicted pseudogene 6685 [Source:MGI Symbol;Acc:MGI:3704119]|Heterozygous||A|T|18|36.5|Non-synonymous|Alive
6583375|IGL01408|5|97086964|Q->Stop||N/A|MGI:2155456|Bmp2k|BMP2 inducible kinase [Source:MGI Symbol;Acc:MGI:2155456]|Heterozygous||C|T|17|38.0|Non-synonymous|Alive
6583376|IGL01408|10|32402241|T->S|||MGI:1923447|Nkain2|Na+/K+ transporting ATPase interacting 2 [Source:MGI Symbol;Acc:MGI:1923447]|Heterozygous||T|A|16|37.5|Non-synonymous|Alive
6583377|IGL01408|4|100333787|S->P|1.0|Probably damaging|MGI:1347520|Ror1|receptor tyrosine kinase-like orphan receptor 1 [Source:MGI Symbol;Acc:MGI:1347520]|Heterozygous|Mice homozygous for disruptions in this gene die within the first day after birth from respiratory defects.|T|C|16|37.0|Non-synonymous|Alive
6583378|IGL01408|6|136814614|M->T||Unknown|MGI:1891823|Wbp11|WW domain binding protein 11 [Source:MGI Symbol;Acc:MGI:1891823]|Heterozygous||A|G|16|35.0|Non-synonymous|Alive
6583379|IGL01408|1|93618980|N->S|0.02|Benign|MGI:2385126|Farp2|FERM, RhoGEF and pleckstrin domain protein 2 [Source:MGI Symbol;Acc:MGI:2385126]|Heterozygous|Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL|A|G|15|37.0|Non-synonymous|Alive
6583380|IGL01408|19|53851613|E->G|1.0|Probably damaging|MGI:1920963|Rbm20|RNA binding motif protein 20 [Source:MGI Symbol;Acc:MGI:1920963]|Heterozygous||A|G|14|36.0|Non-synonymous|Alive
6583381|IGL01408|9|58859886|H->R||Unknown|MGI:1298209|Hcn4|hyperpolarization-activated, cyclic nucleotide-gated K+ 4 [Source:MGI Symbol;Acc:MGI:1298209]|Heterozygous|Mice homozygous for disruptions in this gene experience embryonic lethality. Death occurs between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death.|A|G|13|34.0|Non-synonymous|Alive
6583382|IGL01408|11|52403366|R->G|1.0|Probably damaging|MGI:2654705|9530068e07rik|RIKEN cDNA 9530068E07 gene [Source:MGI Symbol;Acc:MGI:2654705]|Heterozygous||A|G|11|36.0|Non-synonymous|Alive
6583383|IGL01408|1|24306250|Disrupted splicing|||MGI:1095415|Col19a1|collagen, type XIX, alpha 1 [Source:MGI Symbol;Acc:MGI:1095415]|Heterozygous|Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation.|T|C|163|40.0|Splice|Alive
6583385|IGL01408|5|77211327|Disrupted splicing|||MGI:1917232|Spink2|serine peptidase inhibitor, Kazal type 2 [Source:MGI Symbol;Acc:MGI:1917232]|Heterozygous||A|T|74|38.0|Splice|Alive
6583387|IGL01408|13|55482304|Disrupted splicing|||MGI:1931838|Dbn1|drebrin 1 [Source:MGI Symbol;Acc:MGI:1931838]|Heterozygous|Homozygous null mice have defects in cued conditioning behavior.|T|C|56|39.0|Splice|Alive
6583388|IGL01408|17|56353518|Disrupted splicing|||MGI:2442355|Kdm4b|lysine (K)-specific demethylase 4B [Source:MGI Symbol;Acc:MGI:2442355]|Heterozygous|Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching.|T|C|27|39.0|Splice|Alive
6583389|IGL01408|5|110217809|Disrupted splicing|||MGI:96958|Golga3|golgi autoantigen, golgin subfamily a, 3 [Source:MGI Symbol;Acc:MGI:96958]|Heterozygous|Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile.|A|T|22|39.0|Splice|Alive
6583990|IGL01409|11|83035496|E->G|||MGI:3512288|Slfn10-ps|schlafen 10, pseudogene [Source:MGI Symbol;Acc:MGI:3512288]|Heterozygous||T|C|146|39.0|Non-synonymous|Alive
6583991|IGL01409|3|100473169|D->E|1.0|Probably damaging|MGI:1921895|Fam46c|family with sequence similarity 46, member C [Source:MGI Symbol;Acc:MGI:1921895]|Heterozygous||A|T|113|35.0|Non-synonymous|Alive
6583992|IGL01409|2|156069332|S->P|0.25|Benign|MGI:2444120|Spag4|sperm associated antigen 4 [Source:MGI Symbol;Acc:MGI:2444120]|Heterozygous||T|C|90|37.0|Non-synonymous|Alive
6583993|IGL01409|3|145538564|S->N|0.03|Benign|MGI:1918605|Col24a1|collagen, type XXIV, alpha 1 [Source:MGI Symbol;Acc:MGI:1918605]|Heterozygous||G|A|88|38.0|Non-synonymous|Alive
6583994|IGL01409|12|99909681|I->T|0.04|Benign|MGI:1920036|Tdp1|tyrosyl-DNA phosphodiesterase 1 [Source:MGI Symbol;Acc:MGI:1920036]|Heterozygous|Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan.|T|C|85|38.0|Non-synonymous|Alive
6583995|IGL01409|3|36025928|M->L|0.77|Possibly damaging|MGI:2681852|Ccdc144b|coiled-coil domain containing 144B [Source:MGI Symbol;Acc:MGI:2681852]|Heterozygous||T|A|77|38.0|Non-synonymous|Alive
6583996|IGL01409|19|7711130|I->V||Benign|MGI:2442751|Slc22a19|solute carrier family 22 (organic anion transporter), member 19 [Source:MGI Symbol;Acc:MGI:2442751]|Heterozygous||T|C|68|39.0|Non-synonymous|Alive
6583997|IGL01409|9|53499171|V->E||Benign|MGI:107202|Atm|ataxia telangiectasia mutated homolog (human) [Source:MGI Symbol;Acc:MGI:107202]|Heterozygous|Homozygotes for null mutations may exhibit locomotor abnormalities, motor learning deficits, growth retardation, sterility due to meiotic arrest, and susceptibility to thymic lymphomas.|A|T|60|40.0|Non-synonymous|Alive
6583998|IGL01409|15|9716413|L->F|0.96|Probably damaging|MGI:2443727|Spef2|sperm flagellar 2 [Source:MGI Symbol;Acc:MGI:2443727]|Heterozygous||C|A|54|39.0|Non-synonymous|Alive
6583999|IGL01409|3|20249805|Y->F|1.0|Probably damaging|MGI:1923953|Cpb1|carboxypeptidase B1 (tissue) [Source:MGI Symbol;Acc:MGI:1923953]|Heterozygous||T|A|54|38.5|Non-synonymous|Alive
6584000|IGL01409|17|37795522|F->S|1.0|Probably damaging|MGI:2177506|Olfr123|olfactory receptor 123 [Source:MGI Symbol;Acc:MGI:2177506]|Heterozygous||T|C|49|39.0|Non-synonymous|Alive
6584001|IGL01409|7|4942809|T->A|0.79|Possibly damaging|MGI:3606211|Ssc5d|scavenger receptor cysteine rich domain containing (5 domains) [Source:MGI Symbol;Acc:MGI:3606211]|Heterozygous||A|G|47|37.0|Non-synonymous|Alive
6584002|IGL01409|X|8087816|R->C|1.0|Probably damaging|MGI:105059|Was|Wiskott-Aldrich syndrome homolog (human) [Source:MGI Symbol;Acc:MGI:105059]|Heterozygous|Homozygous mutant females and hemizygous mutant males exhibit reduced numbers of peripheral blood lymphocytes and platelets, but increased numbers of neutrophils.|G|A|47|39.0|Non-synonymous|Alive
6584003|IGL01409|11|115869504|C->Stop||N/A|MGI:2685534|Myo15b|myosin XVB [Source:MGI Symbol;Acc:MGI:2685534]|Heterozygous||C|A|45|37.0|Non-synonymous|Alive
6584004|IGL01409|13|38485889|N->S|0.04|Benign|MGI:88182|Bmp6|bone morphogenetic protein 6 [Source:MGI Symbol;Acc:MGI:88182]|Heterozygous|One homozygous null mutant showed delayed ossification in the developing sternum while females of a second null mutant were smaller than normal in size.|A|G|45|35.0|Non-synonymous|Alive
6584005|IGL01409|3|129214764|S->Y|0.89|Possibly damaging|MGI:109340|Pitx2|paired-like homeodomain transcription factor 2 [Source:MGI Symbol;Acc:MGI:109340]|Heterozygous|Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death.|C|A|45|35.0|Non-synonymous|Alive
6584006|IGL01409|18|36756921|K->N|1.0|Probably damaging|MGI:1345142|Ik|IK cytokine [Source:MGI Symbol;Acc:MGI:1345142]|Heterozygous||A|T|44|39.5|Non-synonymous|Alive
6584007|IGL01409|6|23587441|D->G|1.0|Probably damaging|MGI:2443963|Cadps2|Ca2+-dependent activator protein for secretion 2 [Source:MGI Symbol;Acc:MGI:2443963]|Heterozygous|Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior.|T|C|43|37.0|Non-synonymous|Alive
6584008|IGL01409|5|130254066|E->G|1.0|Probably damaging|MGI:1913961|Sbds|Shwachman-Bodian-Diamond syndrome homolog (human) [Source:MGI Symbol;Acc:MGI:1913961]|Heterozygous|Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities.|T|C|42|39.0|Non-synonymous|Alive
6584009|IGL01409|11|69907099|N->K|0.97|Probably damaging|MGI:1921092|Neurl4|neuralized homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1921092]|Heterozygous||T|G|37|36.0|Non-synonymous|Alive
6584010|IGL01409|11|33630593|D->E||Benign|MGI:1917607|Kcnip1|Kv channel-interacting protein 1 [Source:MGI Symbol;Acc:MGI:1917607]|Heterozygous||G|T|36|37.5|Non-synonymous|Alive
6584011|IGL01409|15|82171218|T->A|0.99|Probably damaging|MGI:107585|Srebf2|sterol regulatory element binding factor 2 [Source:MGI Symbol;Acc:MGI:107585]|Heterozygous||A|G|36|35.0|Non-synonymous|Alive
6584012|IGL01409|12|89510358|F->Y|||MGI:1096389|Nrxn3|neurexin III [Source:MGI Symbol;Acc:MGI:1096389]|Heterozygous|Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age.|T|A|35|36.0|Non-synonymous|Alive
6584013|IGL01409|3|83032752|F->S|1.0|Probably damaging|MGI:1316726|Fga|fibrinogen alpha chain [Source:MGI Symbol;Acc:MGI:1316726]|Heterozygous|Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging.|T|C|32|37.0|Non-synonymous|Alive
6584014|IGL01409|11|59031058|R->C|||MGI:2681862|Obscn|obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Source:MGI Symbol;Acc:MGI:2681862]|Heterozygous||G|A|31|37.0|Non-synonymous|Alive
6584015|IGL01409|5|27557601|Y->H|0.99|Probably damaging|MGI:94921|Dpp6|dipeptidylpeptidase 6 [Source:MGI Symbol;Acc:MGI:94921]|Heterozygous||T|C|31|38.0|Non-synonymous|Alive
6584017|IGL01409|2|12191714|T->A|0.03|Benign|MGI:109442|Itga8|integrin alpha 8 [Source:MGI Symbol;Acc:MGI:109442]|Heterozygous|Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear.|T|C|28|40.0|Non-synonymous|Alive
6584018|IGL01409|4|88342305|T->A||Benign|MGI:2676921|Bc057079|cDNA sequence BC057079 [Source:MGI Symbol;Acc:MGI:2676921]|Heterozygous||A|G|28|38.0|Non-synonymous|Alive
6584019|IGL01409|15|85777643|L->F|0.92|Possibly damaging|MGI:104740|Ppara|peroxisome proliferator activated receptor alpha [Source:MGI Symbol;Acc:MGI:104740]|Heterozygous|Homozygotes for a targeted null mutation exhibit loss of diurnal variation in hepatic fatty acid and cholesterol synthesis, increased hepatic lipid and gonadal adipose stores, impaired skin wound healing, and altered metabolic responses to starvation.|A|C|27|39.0|Non-synonymous|Alive
6584020|IGL01409|12|98490063|Y->N|1.0|Probably damaging|MGI:1919508|Kcnk10|potassium channel, subfamily K, member 10 [Source:MGI Symbol;Acc:MGI:1919508]|Heterozygous|Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose.|A|T|26|35.0|Non-synonymous|Alive
6584021|IGL01409|10|85658165|A->V|0.01|Benign|MGI:1921257|Btbd11|BTB (POZ) domain containing 11 [Source:MGI Symbol;Acc:MGI:1921257]|Heterozygous||C|T|24|36.5|Non-synonymous|Alive
6584023|IGL01409|11|68807219|L->P|0.83|Possibly damaging|MGI:1930780|Myh10|myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]|Heterozygous|Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, cardiac abnormalities, and hydroencephaly.|T|C|21|36.0|Non-synonymous|Alive
6584025|IGL01409|6|115559594|Y->H|1.0|Probably damaging|MGI:2141599|Tsen2|tRNA splicing endonuclease 2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2141599]|Heterozygous||T|C|21|35.0|Non-synonymous|Alive
6584026|IGL01409|16|59655737|R->Stop||N/A|MGI:108034|Epha6|Eph receptor A6 [Source:MGI Symbol;Acc:MGI:108034]|Heterozygous|Mice homozygous for a knock-out allele display discrete learning and memory deficits.|G|A|19|39.0|Non-synonymous|Alive
6584027|IGL01409|2|71895779|T->A|0.14|Benign|MGI:1926119|Pdk1|pyruvate dehydrogenase kinase, isoenzyme 1 [Source:MGI Symbol;Acc:MGI:1926119]|Heterozygous||A|G|17|36.0|Non-synonymous|Alive
6584028|IGL01409|4|108819197|S->R|0.12|Benign|MGI:1915312|Btf3l4|basic transcription factor 3-like 4 [Source:MGI Symbol;Acc:MGI:1915312]|Heterozygous||A|C|17|31.0|Non-synonymous|Alive
6584029|IGL01409|7|25724652|N->S||Unknown|MGI:2443517|Hnrnpul1|heterogeneous nuclear ribonucleoprotein U-like 1 [Source:MGI Symbol;Acc:MGI:2443517]|Heterozygous||T|C|17|37.0|Non-synonymous|Alive
6584030|IGL01409|4|116105877|T->I|1.0|Probably damaging|MGI:894697|Rad54l|RAD54 like (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:894697]|Heterozygous|Mice homozygous for disruptions in this gene have an increased sensitivity to crosslinking agents and to ionizing radiation but outherwise have a normal phenotype.|G|A|16|38.5|Non-synonymous|Alive
6584033|IGL01409|3|80707697|Disrupted splicing|||MGI:95809|Gria2|glutamate receptor, ionotropic, AMPA2 (alpha 2) [Source:MGI Symbol;Acc:MGI:95809]|Heterozygous|Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality.|A|G|84|39.0|Splice|Alive
6584034|IGL01409|15|98482067|Disrupted splicing|||MGI:96742|Lalba|lactalbumin, alpha [Source:MGI Symbol;Acc:MGI:96742]|Heterozygous|Homozygous null females are unable to nurse their offspring and have increased milk viscosity.|A|G|44|37.0|Splice|Alive
6584035|IGL01409|2|153392940|Disrupted splicing|||MGI:2684063|Asxl1|additional sex combs like 1 [Source:MGI Symbol;Acc:MGI:2684063]|Heterozygous||T|C|30|36.5|Splice|Alive
6584036|IGL01409|18|39110451|Disrupted splicing|||MGI:1918552|Arhgap26|Rho GTPase activating protein 26 [Source:MGI Symbol;Acc:MGI:1918552]|Heterozygous||C|T|28|38.0|Splice|Alive
6584037|IGL01409|2|60321692|Disrupted splicing|||MGI:106662|Ly75|lymphocyte antigen 75 [Source:MGI Symbol;Acc:MGI:106662]|Heterozygous||A|T|20|37.5|Splice|Alive
6584038|IGL01409|2|32026931|Disrupted splicing|||MGI:1095411|Nup214|nucleoporin 214 [Source:MGI Symbol;Acc:MGI:1095411]|Heterozygous|Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export.|G|T|15|40.0|Splice|Alive
6584679|IGL01410|17|74241981|R->Stop||N/A|MGI:1924140|Memo1|mediator of cell motility 1 [Source:MGI Symbol;Acc:MGI:1924140]|Heterozygous||G|A|158|40.0|Non-synonymous|Alive
6584681|IGL01410|4|140992198|D->G|0.98|Probably damaging|MGI:1922022|Atp13a2|ATPase type 13A2 [Source:MGI Symbol;Acc:MGI:1922022]|Heterozygous||A|G|123|36.0|Non-synonymous|Alive
6584683|IGL01410|12|118047256|K->Stop||N/A|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|T|A|95|39.0|Non-synonymous|Alive
6584684|IGL01410|3|106491226|I->L|1.0|Probably damaging|MGI:2181193|Dennd2d|DENN/MADD domain containing 2D [Source:MGI Symbol;Acc:MGI:2181193]|Heterozygous||A|T|93|39.0|Non-synonymous|Alive
6584685|IGL01410|9|108964618|D->V||Unknown|MGI:88462|Col7a1|collagen, type VII, alpha 1 [Source:MGI Symbol;Acc:MGI:88462]|Heterozygous|Mice homozygous for this targeted mutation are postnatal lethal, exhibit a severe blistering phenotype, and provide an excellent mouse model for recessive dystrophic epidermolysis bullosa.|A|T|83|33.0|Non-synonymous|Alive
6584687|IGL01410|8|4216230|I->F||Unknown|MGI:3605626|Bc068157|cDNA sequence BC068157 [Source:MGI Symbol;Acc:MGI:3605626]|Heterozygous||T|A|80|35.5|Non-synonymous|Alive
6584688|IGL01410|12|103763734|E->D||Benign|MGI:891968|Serpina1d|serine (or cysteine) peptidase inhibitor, clade A, member 1D [Source:MGI Symbol;Acc:MGI:891968]|Heterozygous||T|A|77|37.0|Non-synonymous|Alive
6584689|IGL01410|1|195163234|M->L|0.53|Possibly damaging|MGI:88489|Cr2|complement receptor 2 [Source:MGI Symbol;Acc:MGI:88489]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired humoral immune responses to T cell-dependent antigens, with limited affinity maturation, and reduced memory B cell and germinal center formation.|T|A|74|39.0|Non-synonymous|Alive
6584690|IGL01410|19|58131104|A->T|1.0|Probably damaging|MGI:2147749|Atrnl1|attractin like 1 [Source:MGI Symbol;Acc:MGI:2147749]|Heterozygous|Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology.|G|A|73|38.0|Non-synonymous|Alive
6584691|IGL01410|5|142212120|T->I|0.25|Benign|MGI:2444413|Sdk1|sidekick homolog 1 (chicken) [Source:MGI Symbol;Acc:MGI:2444413]|Heterozygous||C|T|72|35.0|Non-synonymous|Alive
6584693|IGL01410|13|22187909|L->P|0.99|Probably damaging|MGI:2182260|Vmn1r192|vomeronasal 1 receptor 192 [Source:MGI Symbol;Acc:MGI:2182260]|Heterozygous||A|G|65|38.0|Non-synonymous|Alive
6584694|IGL01410|4|11518929|Y->Stop||N/A|MGI:1913435|1110037f02rik|RIKEN cDNA 1110037F02 gene [Source:MGI Symbol;Acc:MGI:1913435]|Heterozygous||T|A|64|38.0|Non-synonymous|Alive
6584695|IGL01410|5|144831021|D->A|0.02|Benign|MGI:2153272|Trrap|transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]|Heterozygous|Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.|A|C|63|37.0|Non-synonymous|Alive
6584697|IGL01410|7|4124657|T->S|0.99|Probably damaging|MGI:1889007|Ttyh1|tweety homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:1889007]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality before implantation with arrest before the blastocyst stage and mitotic failure.|A|T|56|35.0|Non-synonymous|Alive
6584698|IGL01410|1|118836891|V->L||Benign|MGI:95728|Gli2|GLI-Kruppel family member GLI2 [Source:MGI Symbol;Acc:MGI:95728]|Heterozygous|Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5.|C|A|53|37.0|Non-synonymous|Alive
6584699|IGL01410|12|116424650|V->D|0.98|Probably damaging|MGI:1923294|Ncapg2|non-SMC condensin II complex, subunit G2 [Source:MGI Symbol;Acc:MGI:1923294]|Heterozygous|Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development.|T|A|49|39.0|Non-synonymous|Alive
6584701|IGL01410|9|111365049|T->A||Benign|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||A|G|48|38.0|Non-synonymous|Alive
6584702|IGL01410|X|8279831|Q->P||Benign|MGI:2148066|Slc38a5|solute carrier family 38, member 5 [Source:MGI Symbol;Acc:MGI:2148066]|Heterozygous||A|C|48|36.5|Non-synonymous|Alive
6584703|IGL01410|X|8279832|Q->H||Benign|MGI:2148066|Slc38a5|solute carrier family 38, member 5 [Source:MGI Symbol;Acc:MGI:2148066]|Heterozygous||G|T|48|37.5|Non-synonymous|Alive
6584704|IGL01410|X|47892378|T->A||Benign|MGI:1935127|Smarca1|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Source:MGI Symbol;Acc:MGI:1935127]|Heterozygous||T|C|48|36.5|Non-synonymous|Alive
6584705|IGL01410|1|58923607|I->N|1.0|Probably damaging|MGI:1918077|Trak2|trafficking protein, kinesin binding 2 [Source:MGI Symbol;Acc:MGI:1918077]|Heterozygous||A|T|46|40.0|Non-synonymous|Alive
6584706|IGL01410|9|111365259|S->P||Benign|MGI:1341834|Trank1|tetratricopeptide repeat and ankyrin repeat containing 1 [Source:MGI Symbol;Acc:MGI:1341834]|Heterozygous||T|C|46|37.0|Non-synonymous|Alive
6584707|IGL01410|5|86892830|A->V|0.02|Benign|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||G|A|45|39.0|Non-synonymous|Alive
6584708|IGL01410|7|85961292|D->G|0.3|Benign|MGI:3643877|Vmn2r74|vomeronasal 2, receptor 74 [Source:MGI Symbol;Acc:MGI:3643877]|Heterozygous||T|C|45|40.0|Non-synonymous|Alive
6584709|IGL01410|17|46528646|M->K|0.18|Benign|MGI:1925559|Cul9|cullin 9 [Source:MGI Symbol;Acc:MGI:1925559]|Heterozygous|Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis.|A|T|41|37.0|Non-synonymous|Alive
6584710|IGL01410|2|92614130|I->F|0.56|Possibly damaging|MGI:1924219|Chst1|carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 [Source:MGI Symbol;Acc:MGI:1924219]|Heterozygous||A|T|40|37.0|Non-synonymous|Alive
6584711|IGL01410|12|95779192|D->E|0.99|Probably damaging|MGI:3603594|Flrt2|fibronectin leucine rich transmembrane protein 2 [Source:MGI Symbol;Acc:MGI:3603594]|Heterozygous||T|A|37|39.0|Non-synonymous|Alive
6584712|IGL01410|11|97030570|V->G|0.01|Benign|MGI:1343092|Scrn2|secernin 2 [Source:MGI Symbol;Acc:MGI:1343092]|Heterozygous||T|G|36|37.0|Non-synonymous|Alive
6584713|IGL01410|13|48586604|R->S|0.95|Probably damaging|MGI:2145430|Ptpdc1|protein tyrosine phosphatase domain containing 1 [Source:MGI Symbol;Acc:MGI:2145430]|Heterozygous||T|A|36|38.0|Non-synonymous|Alive
6584714|IGL01410|8|106657853|M->L|0.02|Benign|MGI:88354|Cdh1|cadherin 1 [Source:MGI Symbol;Acc:MGI:88354]|Heterozygous|In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time.|A|T|35|39.0|Non-synonymous|Alive
6584715|IGL01410|16|33725566|T->I|0.99|Probably damaging|MGI:1924696|Heg1|HEG homolog 1 (zebrafish) [Source:MGI Symbol;Acc:MGI:1924696]|Heterozygous|Homozygous null mice display partial penetrance of prenatal and postnatal lethality with abnormal heart development, henorrhages, and leaky lymphatic vessels.|C|T|33|35.0|Non-synonymous|Alive
6584716|IGL01410|4|33085626|V->M|0.99|Probably damaging|MGI:95626|Gabrr2|gamma-aminobutyric acid (GABA) C receptor, subunit rho 2 [Source:MGI Symbol;Acc:MGI:95626]|Heterozygous||G|A|33|37.0|Non-synonymous|Alive
6584717|IGL01410|X|36037643|H->Q|0.96|Probably damaging|MGI:1923224|Dock11|dedicator of cytokinesis 11 [Source:MGI Symbol;Acc:MGI:1923224]|Heterozygous||T|A|32|40.5|Non-synonymous|Alive
6584718|IGL01410|7|119967720|T->S|0.69|Possibly damaging|MGI:2683040|Dnahc3|dynein, axonemal, heavy chain 3 [Source:MGI Symbol;Acc:MGI:2683040]|Heterozygous||T|A|30|40.0|Non-synonymous|Alive
6584719|IGL01410|7|25359871|M->I||Benign|MGI:2446294|Megf8|multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]|Heterozygous||G|A|29|38.0|Non-synonymous|Alive
6584720|IGL01410|17|47734240|G->V|1.0|Probably damaging|MGI:98909|Pgc|progastricsin (pepsinogen C) [Source:MGI Symbol;Acc:MGI:98909]|Heterozygous||G|T|28|36.0|Non-synonymous|Alive
6584721|IGL01410|9|21109364|V->M|1.0|Probably damaging|MGI:1929470|Tyk2|tyrosine kinase 2 [Source:MGI Symbol;Acc:MGI:1929470]|Heterozygous|Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function.|C|T|28|36.5|Non-synonymous|Alive
6584722|IGL01410|1|91168829|D->G||Benign|MGI:2685663|Rbm44|RNA binding motif protein 44 [Source:MGI Symbol;Acc:MGI:2685663]|Heterozygous||A|G|27|37.0|Non-synonymous|Alive
6584723|IGL01410|16|48612314|V->A|0.08|Benign|MGI:1316740|Morc1|microrchidia 1 [Source:MGI Symbol;Acc:MGI:1316740]|Heterozygous|Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile.|T|C|27|39.0|Non-synonymous|Alive
6584724|IGL01410|9|18427573|R->W|||MGI:3647118|Gm5612|predicted gene 5612 [Source:MGI Symbol;Acc:MGI:3647118]|Heterozygous||C|T|27|35.0|Non-synonymous|Alive
6584725|IGL01410|18|60700445|Y->C|1.0|Probably damaging|MGI:104719|Ndst1|N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 [Source:MGI Symbol;Acc:MGI:104719]|Heterozygous|Mice homozygous for disruptions in this gene die late in gestation or neonatally. Lungs fail to inflate and mice born alive experience respiratory distress and failure.|T|C|21|38.0|Non-synonymous|Alive
6584727|IGL01410|10|116302274|D->V|0.48|Possibly damaging|MGI:97809|Ptprb|protein tyrosine phosphatase, receptor type, B [Source:MGI Symbol;Acc:MGI:97809]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature.|A|T|20|39.0|Non-synonymous|Alive
6584728|IGL01410|7|6707625|S->G|0.09|Benign|MGI:104748|Peg3|paternally expressed 3 [Source:MGI Symbol;Acc:MGI:104748]|Heterozygous|Heterozygous mutant females exhibit growth retardation, impaired maternal behavior and diminished milk ejection, and fewer oxytocin neurons.|T|C|18|37.5|Non-synonymous|Alive
6584729|IGL01410|X|102586106|R->H|0.06|Benign|MGI:97576|Phka1|phosphorylase kinase alpha 1 [Source:MGI Symbol;Acc:MGI:97576]|Heterozygous|PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant to normal and I-strain alleles.|C|T|16|41.0|Non-synonymous|Alive
6584731|IGL01410|6|54944356|A->T|0.91|Possibly damaging|MGI:1341839|Nod1|nucleotide-binding oligomerization domain containing 1 [Source:MGI Symbol;Acc:MGI:1341839]|Heterozygous|Homozygous mutant mice were viable, fertile, and appeared normal in a specific-pathogen free environment.|C|T|13|35.0|Non-synonymous|Alive
6584732|IGL01410|8|123859230|S->A|0.39|Benign|MGI:1920670, MGI:5141853|1700054n08rik,gm20388|RIKEN cDNA 1700054N08 gene [Source:MGI Symbol;Acc:MGI:1920670],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]|Heterozygous||A|C|13|33.0|Non-synonymous|Alive
6584733|IGL01410|X|20929724|T->I|0.96|Probably damaging|MGI:97545|Cfp|complement factor properdin [Source:MGI Symbol;Acc:MGI:97545]|Heterozygous|Homozygotes for targeted null mutations have defects in the alternative complement pathway.|G|A|12|38.5|Non-synonymous|Alive
6584734|IGL01410|1|139482444|T->I|0.95|Possibly damaging|MGI:1334448|Aspm|asp (abnormal spindle)-like, microcephaly associated (Drosophila) [Source:MGI Symbol;Acc:MGI:1334448]|Heterozygous||C|T|11|39.0|Non-synonymous|Alive
6584735|IGL01410|2|13465908|H->Y|0.07|Benign|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|G|A|11|36.0|Non-synonymous|Alive
6584737|IGL01410|4|154252563|Disrupted splicing|||MGI:1919351|Megf6|multiple EGF-like-domains 6 [Source:MGI Symbol;Acc:MGI:1919351]|Heterozygous||T|A|87|30.0|Splice|Alive
6584738|IGL01410|14|103229492|Disrupted splicing|||MGI:2179432|Mycbp2|MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]|Heterozygous|Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.|A|T|62|40.0|Splice|Alive
6584739|IGL01410|1|191776432|Disrupted splicing|||MGI:2446186|Lpgat1|lysophosphatidylglycerol acyltransferase 1 [Source:MGI Symbol;Acc:MGI:2446186]|Heterozygous||A|T|40|38.0|Splice|Alive
6584740|IGL01410|1|58106025|Disrupted splicing|||MGI:88035|Aox1|aldehyde oxidase 1 [Source:MGI Symbol;Acc:MGI:88035]|Heterozygous||T|A|39|40.0|Splice|Alive
6584741|IGL01410|11|77508257|Disrupted splicing|||MGI:1915125|Trp53i13|transformation related protein 53 inducible protein 13 [Source:MGI Symbol;Acc:MGI:1915125]|Heterozygous||G|A|32|33.5|Splice|Alive
6585359|IGL01411|10|130472560|V->G|0.99|Probably damaging|MGI:3645796|Vmn2r87|vomeronasal 2, receptor 87 [Source:MGI Symbol;Acc:MGI:3645796]|Heterozygous||A|C|186|38.5|Non-synonymous|Alive
6585360|IGL01411|19|4201337|K->E||Benign|MGI:1328356|Rad9|RAD9 homolog (S. pombe) [Source:MGI Symbol;Acc:MGI:1328356]|Heterozygous|Embryos homozygous for a knock-out allele are consistently smaller and display abnormal embryonic development and midgestational lethality associated with increased apoptosis and reduced cellular proliferation. Mutant mouse embryonic fibroblasts are not viable.|T|C|168|36.0|Non-synonymous|Alive
6585361|IGL01411|6|90129404|I->V|0.57|Possibly damaging|MGI:1333759|Vmn1r51|vomeronasal 1 receptor 51 [Source:MGI Symbol;Acc:MGI:1333759]|Heterozygous|Homozygotes and heterozygotes for a null mutation exhibit axons that fail to converge on multiple discrete glomeruli, but rather, appear widely distributed throughout the glomerular layer of the accessory olfactory bulb.|A|G|140|39.0|Non-synonymous|Alive
6585362|IGL01411|6|66611881|I->F|1.0|Probably damaging|MGI:2159450|Vmn1r33|vomeronasal 1 receptor 33 [Source:MGI Symbol;Acc:MGI:2159450]|Heterozygous||T|A|123|38.0|Non-synonymous|Alive
6585363|IGL01411|10|39970727|V->M|1.0|Probably damaging|MGI:2446139|Bc021785|cDNA sequence BC021785 [Source:MGI Symbol;Acc:MGI:2446139]|Heterozygous||C|T|106|38.0|Non-synonymous|Alive
6585364|IGL01411|13|55002928|D->V|1.0|Probably damaging|MGI:894682|Unc5a|unc-5 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:894682]|Heterozygous|Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord.|A|T|105|35.0|Non-synonymous|Alive
6585365|IGL01411|2|76720135|E->G||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|99|39.0|Non-synonymous|Alive
6585366|IGL01411|7|103584117|W->R|1.0|Probably damaging|MGI:3030451|Olfr617|olfactory receptor 617 [Source:MGI Symbol;Acc:MGI:3030451]|Heterozygous||T|C|86|39.0|Non-synonymous|Alive
6585367|IGL01411|X|134952112|R->S||Benign|MGI:1933192|Nxf2|nuclear RNA export factor 2 [Source:MGI Symbol;Acc:MGI:1933192]|Heterozygous|Male mice heterogyzous for the null allele exhibit reduced fertility associated with abnormal meiosis or reduced spermatogonia proliferation depending on strain background.|T|A|86|37.0|Non-synonymous|Alive
6585368|IGL01411|1|173216128|V->G|0.58|Possibly damaging|MGI:3031238|Olfr1404|olfactory receptor 1404 [Source:MGI Symbol;Acc:MGI:3031238]|Heterozygous||T|G|85|37.0|Non-synonymous|Alive
6585369|IGL01411|5|31090080|I->L||Benign|MGI:1345280|Slc30a3|solute carrier family 30 (zinc transporter), member 3 [Source:MGI Symbol;Acc:MGI:1345280]|Heterozygous|While zinc is absent from synaptic vesicles in homozygous null mice, inactivation of this locus does not affect brain morphology.|T|G|80|36.0|Non-synonymous|Alive
6585370|IGL01411|5|43609061|M->L||Benign|MGI:1925911|C1qtnf7|C1q and tumor necrosis factor related protein 7 [Source:MGI Symbol;Acc:MGI:1925911]|Heterozygous||A|T|79|37.0|Non-synonymous|Alive
6585371|IGL01411|14|9573483|D->G|0.2|Benign|MGI:1277947|Fhit|fragile histidine triad gene [Source:MGI Symbol;Acc:MGI:1277947]|Heterozygous|Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors.|T|C|64|39.0|Non-synonymous|Alive
6585372|IGL01411|2|130544439|I->T|1.0|Probably damaging|MGI:97808|Ptpra|protein tyrosine phosphatase, receptor type, A [Source:MGI Symbol;Acc:MGI:97808]|Heterozygous|Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety.|T|C|60|39.0|Non-synonymous|Alive
6585373|IGL01411|11|69188690|S->R||Benign|MGI:1098228|Alox8|arachidonate 8-lipoxygenase [Source:MGI Symbol;Acc:MGI:1098228]|Heterozygous||A|T|53|35.0|Non-synonymous|Alive
6585374|IGL01411|7|16917484|T->A||Benign|MGI:103249|Calm3|calmodulin 3 [Source:MGI Symbol;Acc:MGI:103249]|Heterozygous||T|C|53|37.0|Non-synonymous|Alive
6585375|IGL01411|8|124683285|Q->P|1.0|Probably damaging|MGI:2384573|Ttc13|tetratricopeptide repeat domain 13 [Source:MGI Symbol;Acc:MGI:2384573]|Heterozygous||T|G|51|38.0|Non-synonymous|Alive
6585376|IGL01411|5|137388893|H->L||Unknown|MGI:106656|Zan|zonadhesin [Source:MGI Symbol;Acc:MGI:106656]|Heterozygous|Sperm from mice homozygous for a knock-out allele exhibit decreased species-specific zona pellucida adhesion without alteration in fertility.|T|A|50|39.0|Non-synonymous|Alive
6585377|IGL01411|X|16712569|R->S|1.0|Probably damaging|MGI:96916|Maob|monoamine oxidase B [Source:MGI Symbol;Acc:MGI:96916]|Heterozygous||T|G|48|35.0|Non-synonymous|Alive
6585378|IGL01411|19|31911229|E->K|0.31|Benign|MGI:1917115|A1cf|APOBEC1 complementation factor [Source:MGI Symbol;Acc:MGI:1917115]|Heterozygous|Embryos homozygous for a targeted deletion of this gene are detectable only until the blastocyst stage (E3.5) and isolated mutant blastocysts fail to proliferate in vitro.|G|A|43|40.0|Non-synonymous|Alive
6585379|IGL01411|3|106388825|W->R|1.0|Probably damaging|MGI:2682303|Bc051070|cDNA sequence BC051070 [Source:MGI Symbol;Acc:MGI:2682303]|Heterozygous||A|G|43|39.0|Non-synonymous|Alive
6585380|IGL01411|2|67514083|F->L|0.03|Benign|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||T|C|40|38.0|Non-synonymous|Alive
6585381|IGL01411|X|114522394|D->V|1.0|Probably damaging|MGI:2442829|Klhl4|kelch-like 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:2442829]|Heterozygous||A|T|39|39.0|Non-synonymous|Alive
6585382|IGL01411|10|127581765|C->Stop||N/A|MGI:96828|Lrp1|low density lipoprotein receptor-related protein 1 [Source:MGI Symbol;Acc:MGI:96828]|Heterozygous|Mice homozygous for a null allele exhibit lethality during late organogenesis.|A|T|38|36.0|Non-synonymous|Alive
6585383|IGL01411|4|111936906|N->K|0.92|Possibly damaging|MGI:3651523|Skint8|selection and upkeep of intraepithelial T cells 8 [Source:MGI Symbol;Acc:MGI:3651523]|Heterozygous||T|A|37|37.0|Non-synonymous|Alive
6585384|IGL01411|16|18624930|R->C|1.0|Probably damaging|MGI:1195461|Sept5|septin 5 [Source:MGI Symbol;Acc:MGI:1195461]|Heterozygous|Mice homozygous for disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele.|G|A|33|39.0|Non-synonymous|Alive
6585385|IGL01411|18|50191814|V->D|0.99|Probably damaging|MGI:105089|Hsd17b4|hydroxysteroid (17-beta) dehydrogenase 4 [Source:MGI Symbol;Acc:MGI:105089]|Heterozygous|Mice homozygous for disruptions in this gene have abnormalities infatty acid metabolism. The mice have retarded growth and abnormal bile salt composition.|T|A|33|39.0|Non-synonymous|Alive
6585386|IGL01411|7|16564267|N->S||Benign|MGI:1929494|Grlf1|glucocorticoid receptor DNA binding factor 1 [Source:MGI Symbol;Acc:MGI:1929494]|Heterozygous|Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Abnormalities are seen in the retina and in the development of the brain and nervous system.|T|C|33|37.0|Non-synonymous|Alive
6585387|IGL01411|9|77239417|I->T|0.57|Possibly damaging|MGI:1916892|Mlip|muscular LMNA-interacting protein [Source:MGI Symbol;Acc:MGI:1916892]|Heterozygous||A|G|33|38.0|Non-synonymous|Alive
6585388|IGL01411|6|121261421|V->M|0.22|Benign|MGI:1344364|Usp18|ubiquitin specific peptidase 18 [Source:MGI Symbol;Acc:MGI:1344364]|Heterozygous|Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.|G|A|32|37.0|Non-synonymous|Alive
6585389|IGL01411|2|91601011|R->L|||MGI:1923036|Ckap5|cytoskeleton associated protein 5 [Source:MGI Symbol;Acc:MGI:1923036]|Heterozygous||G|T|31|40.0|Non-synonymous|Alive
6585390|IGL01411|16|17211094|D->G|0.98|Probably damaging|MGI:2685449|Rimbp3|RIMS binding protein 3 [Source:MGI Symbol;Acc:MGI:2685449]|Heterozygous||A|G|29|39.0|Non-synonymous|Alive
6585391|IGL01411|7|98194523|F->V|1.0|Probably damaging|MGI:3039603|B3gnt6|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) [Source:MGI Symbol;Acc:MGI:3039603]|Heterozygous||A|C|29|36.0|Non-synonymous|Alive
6585392|IGL01411|9|105785958|K->Stop||N/A|MGI:2444259|Col6a6|collagen, type VI, alpha 6 [Source:MGI Symbol;Acc:MGI:2444259]|Heterozygous||T|A|29|36.0|Non-synonymous|Alive
6585393|IGL01411|1|92857014|F->S|0.98|Probably damaging|MGI:1194891|Gpc1|glypican 1 [Source:MGI Symbol;Acc:MGI:1194891]|Heterozygous||T|C|26|35.0|Non-synonymous|Alive
6585394|IGL01411|7|26266895|V->A|0.21|Benign|MGI:3852451|Vmn1r184|vomeronasal 1 receptor, 184 [Source:MGI Symbol;Acc:MGI:3852451]|Heterozygous||T|C|24|39.0|Non-synonymous|Alive
6585395|IGL01411|17|20471020|M->L|||MGI:3643822|Vmn2r108|vomeronasal 2, receptor 108 [Source:MGI Symbol;Acc:MGI:3643822]|Heterozygous||T|A|23|39.0|Non-synonymous|Alive
6585396|IGL01411|8|45026800|V->E|0.03|Benign|MGI:109168|Fat1|FAT tumor suppressor homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:109168]|Heterozygous|Homozygotes for a targeted null mutation exhibit holoprosencephaly, anophthalmia, kidney defects, and perinatal lethality.|T|A|22|39.0|Non-synonymous|Alive
6585397|IGL01411|8|70779583|V->A|0.06|Benign|MGI:2683541|Mast3|microtubule associated serine/threonine kinase 3 [Source:MGI Symbol;Acc:MGI:2683541]|Heterozygous||A|G|22|36.0|Non-synonymous|Alive
6585398|IGL01411|4|64000722|V->M|1.0|Probably damaging|MGI:101922|Tnc|tenascin C [Source:MGI Symbol;Acc:MGI:101922]|Heterozygous|Mice homozygous for several different targeted mutations show variable behavioral and nervous system phenotypes such as abnormal circadian rhythm, anxiety behavior, novelty-induced activity, swimming, impaired synaptic plasticity, long term potentiation and serotonin and dopamine neurotransmission.|C|T|21|37.0|Non-synonymous|Alive
6585399|IGL01411|10|80315078|S->P|||MGI:1346052|Apc2|adenomatosis polyposis coli 2 [Source:MGI Symbol;Acc:MGI:1346052]|Heterozygous||T|C|20|37.0|Non-synonymous|Alive
6585400|IGL01411|9|39593791|D->E|0.31|Benign|MGI:2143322|Aw551984|expressed sequence AW551984 [Source:MGI Symbol;Acc:MGI:2143322]|Heterozygous||A|T|20|37.0|Non-synonymous|Alive
6585401|IGL01411|2|179780403|R->C|0.01|Benign|MGI:99218|Cdh4|cadherin 4 [Source:MGI Symbol;Acc:MGI:99218]|Heterozygous|Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.|C|T|18|37.5|Non-synonymous|Alive
6585402|IGL01411|3|103803323|V->A|0.1|Benign|MGI:2156057|Dclre1b|DNA cross-link repair 1B, PSO2 homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2156057]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced embryo size and neonatal lethality.|A|G|18|36.5|Non-synonymous|Alive
6585403|IGL01411|2|69482267|L->P|1.0|Probably damaging|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|A|G|17|40.0|Non-synonymous|Alive
6585405|IGL01411|2|105132974|Y->C|0.98|Probably damaging|MGI:98968|Wt1|Wilms tumor 1 homolog [Source:MGI Symbol;Acc:MGI:98968]|Heterozygous|Homozygous mutants fail to develop normal kidneys or gonads, and on some genetic backgrounds, a spleen. Mutants have abnormalities of the heart, mesothelium and lungs and die between embryonic day 13.5 and birth.|A|G|15|35.0|Non-synonymous|Alive
6585407|IGL01411|11|115382366|E->G|0.91|Possibly damaging|MGI:2684867|Cdr2l|cerebellar degeneration-related protein 2-like [Source:MGI Symbol;Acc:MGI:2684867]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive
6585408|IGL01411|2|168231377|V->A|0.98|Probably damaging|MGI:1916622|Mocs3|molybdenum cofactor synthesis 3 [Source:MGI Symbol;Acc:MGI:1916622]|Heterozygous||T|C|12|33.0|Non-synonymous|Alive
6585409|IGL01411|11|100263341|L->P|0.01|Benign|MGI:1915489|Krt42|keratin 42 [Source:MGI Symbol;Acc:MGI:1915489]|Heterozygous||A|G|11|35.0|Non-synonymous|Alive
6585410|IGL01411|8|107506345|T->I||Benign|MGI:1914144|Wwp2|WW domain containing E3 ubiquitin protein ligase 2 [Source:MGI Symbol;Acc:MGI:1914144]|Heterozygous||C|T|11|33.0|Non-synonymous|Alive
6585412|IGL01411|6|25750144|Disrupted splicing|||MGI:2141503|Pot1a|protection of telomeres 1A [Source:MGI Symbol;Acc:MGI:2141503]|Heterozygous|Mice homozygous for a gene trap allele exhibit embryonic lethality and lack inner cell mass. Mice homozygous for a knock-out allele exhibit prenatal lethality.|A|T|52|37.5|Splice|Alive
6585413|IGL01411|7|112577010|Disrupted splicing|||MGI:1931144|Parva|parvin, alpha [Source:MGI Symbol;Acc:MGI:1931144]|Heterozygous|Mice homozygous for a null allele exhibit lethality prior to E14.5 with abnormal cardiovascular development, edema, hemorrhage, and heart defects.|T|C|24|37.5|Splice|Alive
6585414|IGL01411|6|146376062|Disrupted splicing|||MGI:99418|Itpr2|inositol 1,4,5-triphosphate receptor 2 [Source:MGI Symbol;Acc:MGI:99418]|Heterozygous|Mice homozygous for a knock-out allele are viable and fertile with no apparent abnormalities in pancreatic and salivary secretion. Mice homozygous for a different knock-out allele have atrial myocytes that are significantly less prone to develop proarrhythmic disturbances in calcium signaling.|C|T|23|38.0|Splice|Alive
6585415|IGL01411|9|58117636|Disrupted splicing|||MGI:1922464|Ccdc33|coiled-coil domain containing 33 [Source:MGI Symbol;Acc:MGI:1922464]|Heterozygous||G|A|16|39.0|Splice|Alive
6585416|IGL01411|10|86980008|Disrupted splicing|||MGI:2178743|Stab2|stabilin 2 [Source:MGI Symbol;Acc:MGI:2178743]|Heterozygous|Mice homozygous for a knock-out allele exhibit no physical or behavioral abnormalities.|A|T|10|33.5|Splice|Alive
6586022|IGL01412|4|143964995|V->G|1.0|Probably damaging|MGI:3650204|Gm13101|predicted gene 13101 [Source:MGI Symbol;Acc:MGI:3650204]|Heterozygous||A|C|163|38.0|Non-synonymous|Alive
6586023|IGL01412|7|104306995|A->T|0.61|Possibly damaging|MGI:1923931|Trim12a|tripartite motif-containing 12A [Source:MGI Symbol;Acc:MGI:1923931]|Heterozygous||C|T|162|38.0|Non-synonymous|Alive
6586024|IGL01412|3|127679972|L->Q|0.17|Benign|MGI:1918731|Alpk1|alpha-kinase 1 [Source:MGI Symbol;Acc:MGI:1918731]|Heterozygous||A|T|125|38.0|Non-synonymous|Alive
6586025|IGL01412|14|26915065|L->H|0.94|Possibly damaging|MGI:2655107|Asb14|ankyrin repeat and SOCS box-containing 14 [Source:MGI Symbol;Acc:MGI:2655107]|Heterozygous||T|A|105|37.0|Non-synonymous|Alive
6586026|IGL01412|5|113819468|T->K|0.92|Possibly damaging|MGI:106689|Selplg|selectin, platelet (p-selectin) ligand [Source:MGI Symbol;Acc:MGI:106689]|Heterozygous|Mice homozygous for a null allele exhibit neutrophillia and impaired leukocyte adhesion and rolling.|G|T|92|36.0|Non-synonymous|Alive
6586027|IGL01412|6|15376758|Q->K||Unknown|MGI:2148705|Foxp2|forkhead box P2 [Source:MGI Symbol;Acc:MGI:2148705]|Heterozygous|Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity.|C|A|75|39.0|Non-synonymous|Alive
6586028|IGL01412|9|19121599|C->S||Benign|MGI:3030670|Olfr836|olfactory receptor 836 [Source:MGI Symbol;Acc:MGI:3030670]|Heterozygous||T|A|74|40.0|Non-synonymous|Alive
6586029|IGL01412|7|79117436|A->V|1.0|Probably damaging|MGI:1914916|Hapln3|hyaluronan and proteoglycan link protein 3 [Source:MGI Symbol;Acc:MGI:1914916]|Heterozygous||G|A|66|37.0|Non-synonymous|Alive
6586030|IGL01412|1|90604431|L->F|0.92|Possibly damaging|MGI:1915363|Cops8|COP9 (constitutive photomorphogenic) homolog, subunit 8 (Arabidopsis thaliana) [Source:MGI Symbol;Acc:MGI:1915363]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos.|G|T|58|38.0|Non-synonymous|Alive
6586031|IGL01412|13|54725894|D->V|1.0|Probably damaging|MGI:2687323|Cdhr2|cadherin-related family member 2 [Source:MGI Symbol;Acc:MGI:2687323]|Heterozygous||A|T|57|38.0|Non-synonymous|Alive
6586032|IGL01412|12|37402141|E->K|0.89|Possibly damaging|MGI:2442495|Agmo|alkylglycerol monooxygenase [Source:MGI Symbol;Acc:MGI:2442495]|Heterozygous||G|A|55|39.0|Non-synonymous|Alive
6586033|IGL01412|10|45153112|Y->C|1.0|Probably damaging|MGI:1270863|Prep|prolyl endopeptidase [Source:MGI Symbol;Acc:MGI:1270863]|Heterozygous|Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity.|A|G|54|37.5|Non-synonymous|Alive
6586034|IGL01412|13|41315786|Y->Stop||N/A|MGI:97302|Nedd9|neural precursor cell expressed, developmentally down-regulated gene 9 [Source:MGI Symbol;Acc:MGI:97302]|Heterozygous||A|T|54|37.0|Non-synonymous|Alive
6586035|IGL01412|11|8950409|T->N|0.92|Possibly damaging|MGI:2156538|Pkd1l1|polycystic kidney disease 1 like 1 [Source:MGI Symbol;Acc:MGI:2156538]|Heterozygous|Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.|G|T|52|37.0|Non-synonymous|Alive
6586036|IGL01412|13|24887860|H->R|1.0|Probably damaging|MGI:3036268|D130043k22rik|RIKEN cDNA D130043K22 gene [Source:MGI Symbol;Acc:MGI:3036268]|Heterozygous||A|G|51|36.0|Non-synonymous|Alive
6586037|IGL01412|7|103584907|N->S|1.0|Probably damaging|MGI:3030451|Olfr617|olfactory receptor 617 [Source:MGI Symbol;Acc:MGI:3030451]|Heterozygous||A|G|48|39.0|Non-synonymous|Alive
6586038|IGL01412|8|57777294|E->V|||MGI:3040399, MGI:3527052, MGI:3527051, MGI:3527050, MGI:2680362, MGI:3530896, MGI:3512172|Ac116875.1|polypeptide N-acetylgalactosaminyltransferase-like 6 [Source:RefSeq peptide;Acc:NP_778197]|Heterozygous||T|A|47|39.0|Non-synonymous|Alive
6586039|IGL01412|14|9870065|H->N|0.89|Possibly damaging|MGI:1277947|Fhit|fragile histidine triad gene [Source:MGI Symbol;Acc:MGI:1277947]|Heterozygous|Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors.|G|T|46|39.5|Non-synonymous|Alive
6586040|IGL01412|8|74892678|L->P|0.96|Probably damaging|MGI:1918847|Isx|intestine specific homeobox [Source:MGI Symbol;Acc:MGI:1918847]|Heterozygous|Homozygous null mice are viable and fertile up to 1 year of age and display no histological abnormalities of the gut.|T|C|46|39.5|Non-synonymous|Alive
6586041|IGL01412|18|20247461|I->V||Benign|MGI:2664358|Dsg1c|desmoglein 1 gamma [Source:MGI Symbol;Acc:MGI:2664358]|Heterozygous||A|G|41|37.0|Non-synonymous|Alive
6586042|IGL01412|5|34898572|L->Q|||MGI:96285|Htt|huntingtin [Source:MGI Symbol;Acc:MGI:96067]|Heterozygous|Null mutants gastrulate abnormally and die in utero. Conditional mutants are small with progressive neurodegeneration. Knock-ins of 20-150 CAG repeat units variably mimic Huntington's with late-onset motor defects, reactive gliosis and neuronal inclusions.|T|A|41|39.0|Non-synonymous|Alive
6586043|IGL01412|17|25391950|K->E|0.05|Benign|MGI:1928842|Cacna1h|calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:MGI Symbol;Acc:MGI:1928842]|Heterozygous|Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis.|T|C|40|37.0|Non-synonymous|Alive
6586044|IGL01412|10|79541180|Stop->R||N/A|MGI:1917677|Mier2|mesoderm induction early response 1, family member 2 [Source:MGI Symbol;Acc:MGI:1917677]|Heterozygous||A|G|38|37.0|Non-synonymous|Alive
6586045|IGL01412|8|106818499|V->A|0.03|Benign|MGI:2142786|Tmco7|transmembrane and coiled-coil domains 7 [Source:MGI Symbol;Acc:MGI:2142786]|Heterozygous||T|C|38|38.0|Non-synonymous|Alive
6586046|IGL01412|5|21815736|I->L|0.98|Probably damaging|MGI:1933154|Slc26a5|solute carrier family 26, member 5 [Source:MGI Symbol;Acc:MGI:1933154]|Heterozygous|Cochlear sensitivity is decreased in mutant due to a loss of outer hair cell electromotility.|T|A|36|38.5|Non-synonymous|Alive
6586047|IGL01412|3|38891181|I->V|0.03|Benign|MGI:3045256|Fat4|FAT tumor suppressor homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:3045256]|Heterozygous||A|G|35|35.0|Non-synonymous|Alive
6586048|IGL01412|3|155086722|Q->R|||MGI:1922790|Fpgt|fucose-1-phosphate guanylyltransferase [Source:MGI Symbol;Acc:MGI:1922790]|Heterozygous||T|C|35|40.0|Non-synonymous|Alive
6586049|IGL01412|14|26771005|E->G|1.0|Probably damaging|MGI:107720|Dnahc12|dynein, axonemal, heavy chain 12 [Source:MGI Symbol;Acc:MGI:107720]|Heterozygous||A|G|34|39.0|Non-synonymous|Alive
6586050|IGL01412|2|87753117|L->Q|1.0|Probably damaging|MGI:3030975|Olfr1141|olfactory receptor 1141 [Source:MGI Symbol;Acc:MGI:3030975]|Heterozygous||A|T|34|40.0|Non-synonymous|Alive
6586051|IGL01412|7|104003635|M->K|0.26|Benign|MGI:3030472|Olfr638|olfactory receptor 638 [Source:MGI Symbol;Acc:MGI:3030472]|Heterozygous||T|A|32|40.0|Non-synonymous|Alive
6586052|IGL01412|17|46244209|S->P|1.0|Probably damaging|MGI:103288|Polr1c|polymerase (RNA) I polypeptide C [Source:MGI Symbol;Acc:MGI:103288]|Heterozygous||A|G|30|38.0|Non-synonymous|Alive
6586053|IGL01412|5|137393032|D->V||Unknown|MGI:106656|Zan|zonadhesin [Source:MGI Symbol;Acc:MGI:106656]|Heterozygous|Sperm from mice homozygous for a knock-out allele exhibit decreased species-specific zona pellucida adhesion without alteration in fertility.|T|A|29|38.0|Non-synonymous|Alive
6586054|IGL01412|1|140570417|M->I|0.02|Benign|MGI:3036273|Kcnt2|potassium channel, subfamily T, member 2 [Source:MGI Symbol;Acc:MGI:3036273]|Heterozygous||G|A|26|38.0|Non-synonymous|Alive
6586055|IGL01412|11|76213485|T->S||Unknown|MGI:2449313, MGI:2151840|4932415l08rik,gemin4|gem (nuclear organelle) associated protein 4 [Source:MGI Symbol;Acc:MGI:2449313],Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q3TY17]|Heterozygous||A|T|25|39.0|Non-synonymous|Alive
6586056|IGL01412|15|12815872|Q->Stop||N/A|MGI:1925127|6030458c11rik|RIKEN cDNA 6030458C11 gene [Source:MGI Symbol;Acc:MGI:1925127]|Heterozygous||G|A|25|39.0|Non-synonymous|Alive
6586057|IGL01412|15|102359363|T->A|0.13|Benign|MGI:2153568|Sp7|Sp7 transcription factor 7 [Source:MGI Symbol;Acc:MGI:2153568]|Heterozygous|Mice homozygous for a reporter allele die within minutes of birth displaying cyanosis, respiratory distress, arrested osteoblast differentiation, and failure of endochondral and intramembranous bone formation.|T|C|25|35.0|Non-synonymous|Alive
6586058|IGL01412|13|11742036|K->N|0.98|Probably damaging|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|T|A|23|36.0|Non-synonymous|Alive
6586059|IGL01412|19|41375890|E->G|0.9|Possibly damaging|MGI:1933177|Pik3ap1|phosphoinositide-3-kinase adaptor protein 1 [Source:MGI Symbol;Acc:MGI:1933177]|Heterozygous|Mice homozygous for disruptions in this gene have abnormalities in B cell maturation.|T|C|23|36.0|Non-synonymous|Alive
6586060|IGL01412|10|116343915|T->A|0.21|Benign|MGI:97809|Ptprb|protein tyrosine phosphatase, receptor type, B [Source:MGI Symbol;Acc:MGI:97809]|Heterozygous|Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature.|A|G|22|37.5|Non-synonymous|Alive
6586061|IGL01412|9|63293706|I->N|1.0|Probably damaging|MGI:1346345|Map2k5|mitogen-activated protein kinase kinase 5 [Source:MGI Symbol;Acc:MGI:1346345]|Heterozygous|Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo.|A|T|19|37.0|Non-synonymous|Alive
6586062|IGL01412|10|54074714|V->A||Benign|MGI:104677|Man1a|mannosidase 1, alpha [Source:MGI Symbol;Acc:MGI:104677]|Heterozygous||A|G|18|32.0|Non-synonymous|Alive
6586063|IGL01412|11|50795403|E->G|0.01|Benign|MGI:1347356|Adamts2|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 2 [Source:MGI Symbol;Acc:MGI:1347356]|Heterozygous|Homozygous mutation of this gene results in a short snout, male infertility, and thin skin that is torn by scratching or handling.|A|G|18|37.0|Non-synonymous|Alive
6586064|IGL01412|6|131630510|Y->Stop||N/A|MGI:2681278|Tas2r130|taste receptor, type 2, member 130 [Source:MGI Symbol;Acc:MGI:2681278]|Heterozygous||A|T|18|38.5|Non-synonymous|Alive
6586065|IGL01412|19|24100775|E->G|1.0|Probably damaging|MGI:1341872|Tjp2|tight junction protein 2 [Source:MGI Symbol;Acc:MGI:1341872]|Heterozygous|Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.|T|C|17|37.0|Non-synonymous|Alive
6586066|IGL01412|12|81906465|I->F|0.99|Probably damaging|MGI:1891924|Pcnx|pecanex homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1891924]|Heterozygous||A|T|16|37.5|Non-synonymous|Alive
6586067|IGL01412|14|50035313|I->T||Benign|MGI:3030559|Olfr725|olfactory receptor 725 [Source:MGI Symbol;Acc:MGI:3030559]|Heterozygous||A|G|16|35.0|Non-synonymous|Alive
6586068|IGL01412|18|24585356|N->S|1.0|Probably damaging|MGI:2147279|Slc39a6|solute carrier family 39 (metal ion transporter), member 6 [Source:MGI Symbol;Acc:MGI:2147279]|Heterozygous||T|C|15|38.0|Non-synonymous|Alive
6586069|IGL01412|6|27762461|R->H|0.33|Benign|MGI:1351345|Grm8|glutamate receptor, metabotropic 8 [Source:MGI Symbol;Acc:MGI:1351345]|Heterozygous||C|T|15|38.0|Non-synonymous|Alive
6586071|IGL01412|2|180583416|F->Y|0.99|Probably damaging|MGI:1920497|1600027n09rik|RIKEN cDNA 1600027N09 gene [Source:MGI Symbol;Acc:MGI:1920497]|Heterozygous||T|A|14|35.5|Non-synonymous|Alive
6586072|IGL01412|1|34242620|V->A||Benign|MGI:104627|Dst|dystonin [Source:MGI Symbol;Acc:MGI:104627]|Heterozygous|Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.|T|C|12|35.5|Non-synonymous|Alive
6586073|IGL01412|7|27878684|D->V|0.99|Probably damaging|MGI:3584526|Zfp607|zinc finger proten 607 [Source:MGI Symbol;Acc:MGI:3584526]|Heterozygous||A|T|12|39.5|Non-synonymous|Alive
6586074|IGL01412|9|75466242|N->D|0.06|Benign|MGI:2685031|Leo1|Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2685031]|Heterozygous||A|G|11|40.0|Non-synonymous|Alive
6586075|IGL01412|10|60314694|D->G|||MGI:1890219|Cdh23|cadherin 23 (otocadherin) [Source:MGI Symbol;Acc:MGI:1890219]|Heterozygous|Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology.|T|C|10|39.0|Non-synonymous|Alive
6586078|IGL01412|7|130805819|Disrupted splicing|||MGI:3045247|Btbd16|BTB (POZ) domain containing 16 [Source:MGI Symbol;Acc:MGI:3045247]|Heterozygous||A|T|48|39.0|Splice|Alive
6586079|IGL01412|7|143808790|Disrupted splicing|||MGI:1926164|Nadsyn1|NAD synthetase 1 [Source:MGI Symbol;Acc:MGI:1926164]|Heterozygous||A|T|28|36.0|Splice|Alive
6586080|IGL01412|8|128418707|Disrupted splicing|||MGI:106206|Nrp1|neuropilin 1 [Source:MGI Symbol;Acc:MGI:106206]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality, abnormal vascular development, and abnormal trigeminal and spinal nerve morphology.|T|C|28|39.5|Splice|Alive
6586081|IGL01412|10|80234329|Disrupted splicing|||MGI:1915364|Mum1|melanoma associated antigen (mutated) 1 [Source:MGI Symbol;Acc:MGI:1915364]|Heterozygous||T|A|24|37.0|Splice|Alive
6586082|IGL01412|4|156171034|Disrupted splicing|||MGI:87961|Agrn|agrin [Source:MGI Symbol;Acc:MGI:87961]|Heterozygous||A|T|18|38.5|Splice|Alive
6586083|IGL01412|12|40730041|Disrupted splicing|||MGI:1918006|Dock4|dedicator of cytokinesis 4 [Source:MGI Symbol;Acc:MGI:1918006]|Heterozygous||T|A|16|40.0|Splice|Alive
6586084|IGL01412|9|65114449|Disrupted splicing|||MGI:1858497|Igdcc4|immunoglobulin superfamily, DCC subclass, member 4 [Source:MGI Symbol;Acc:MGI:1858497]|Heterozygous||A|G|14|37.5|Splice|Alive
6586699|IGL01413|X|8749453|E->G|0.28|Benign|MGI:2446773|Ssx9|synovial sarcoma, X breakpoint 9 [Source:MGI Symbol;Acc:MGI:2446773]|Heterozygous||A|G|257|39.0|Non-synonymous|Alive
6586702|IGL01413|17|18062565|T->A|||MGI:3761531|Vmn2r-ps113|vomeronasal 2, receptor, pseudogene 113 [Source:MGI Symbol;Acc:MGI:3761531]|Heterozygous||A|G|152|39.0|Non-synonymous|Alive
6586703|IGL01413|17|29697982|S->P||Benign|MGI:1921407|Ftsjd2|FtsJ methyltransferase domain containing 2 [Source:MGI Symbol;Acc:MGI:1921407]|Heterozygous||T|C|125|37.0|Non-synonymous|Alive
6586704|IGL01413|5|30141027|M->L|0.01|Benign|MGI:2135593|Hadha|hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit [Source:MGI Symbol;Acc:MGI:2135593]|Heterozygous|Mice homozygous for disruptions in this gene die within 36 hours with hypoglycemia and liver steatosis. Liver steatosis and insulin resistance develop in heterozygotes with age.|T|A|121|39.0|Non-synonymous|Alive
6586705|IGL01413|2|102814287|E->G|0.01|Benign|MGI:88338|Cd44|CD44 antigen [Source:MGI Symbol;Acc:MGI:88338]|Heterozygous|Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation.|T|C|106|35.0|Non-synonymous|Alive
6586710|IGL01413|5|41698447|D->E|0.96|Probably damaging|MGI:1917285|Rab28|RAB28, member RAS oncogene family [Source:MGI Symbol;Acc:MGI:1917285]|Heterozygous||A|T|79|39.0|Non-synonymous|Alive
6586713|IGL01413|10|78197844|V->A|||MGI:1336209|Trappc10|trafficking protein particle complex 10 [Source:MGI Symbol;Acc:MGI:1336209]|Heterozygous||A|G|61|39.0|Non-synonymous|Alive
6586714|IGL01413|17|66556097|Y->H|0.01|Benign|MGI:1921806|Themis3|thymocyte selection associated family member 3 [Source:MGI Symbol;Acc:MGI:1921806]|Heterozygous||A|G|56|37.0|Non-synonymous|Alive
6586715|IGL01413|8|25562223|C->Stop||N/A|MGI:95522|Fgfr1|fibroblast growth factor receptor 1 [Source:MGI Symbol;Acc:MGI:95522]|Heterozygous|Homozygotes for targeted null mutations die around gastrulation and show defective patterning of axial structures. Hypomorphic and selectively ablated mutations exhibit a wide range of abnormalities affecting diverse structures.|T|A|55|37.0|Non-synonymous|Alive
6586717|IGL01413|14|47016792|T->A|0.16|Benign|MGI:1921730|Samd4|sterile alpha motif domain containing 4 [Source:MGI Symbol;Acc:MGI:1921730]|Heterozygous||A|G|49|35.0|Non-synonymous|Alive
6586719|IGL01413|8|111501074|S->C|0.1|Benign|MGI:2442115|Wdr59|WD repeat domain 59 [Source:MGI Symbol;Acc:MGI:2442115]|Heterozygous||T|A|49|40.0|Non-synonymous|Alive
6586720|IGL01413|1|40446169|K->N|0.03|Benign|MGI:98427|Il1rl1|interleukin 1 receptor-like 1 [Source:MGI Symbol;Acc:MGI:98427]|Heterozygous|Mice homozygous for disruptions in this gene display an abnormal Th2 type inflammatory response.|A|T|48|39.0|Non-synonymous|Alive
6586723|IGL01413|17|23816025|S->P||Unknown|MGI:1923206|Srrm2|serine/arginine repetitive matrix 2 [Source:MGI Symbol;Acc:MGI:1923206]|Heterozygous||T|C|47|36.0|Non-synonymous|Alive
6586724|IGL01413|X|151882680|Q->L|0.4|Benign|MGI:1926884|Huwe1|HECT, UBA and WWE domain containing 1 [Source:MGI Symbol;Acc:MGI:1926884]|Heterozygous|Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation.|A|T|46|39.0|Non-synonymous|Alive
6586726|IGL01413|X|73018391|D->G|||MGI:108095|Zfp185|zinc finger protein 185 [Source:MGI Symbol;Acc:MGI:108095]|Heterozygous||A|G|44|39.5|Non-synonymous|Alive
6586727|IGL01413|18|82987670|K->Stop||N/A|MGI:2443957|Zfp516|zinc finger protein 516 [Source:MGI Symbol;Acc:MGI:2443957]|Heterozygous||A|T|43|37.0|Non-synonymous|Alive
6586730|IGL01413|17|70516074|A->E||Benign|MGI:1346065|Dlgap1|discs, large (Drosophila) homolog-associated protein 1 [Source:MGI Symbol;Acc:MGI:1346065]|Heterozygous||C|A|40|35.0|Non-synonymous|Alive
6586732|IGL01413|14|53845615|C->F|||MGI:3649383|Trav19|T cell receptor alpha variable 19 [Source:MGI Symbol;Acc:MGI:3649383]|Heterozygous||G|T|38|40.0|Non-synonymous|Alive
6586733|IGL01413|7|26611621|V->E|0.99|Probably damaging|MGI:2159634|Vmn1r185|vomeronasal 1 receptor 185 [Source:MGI Symbol;Acc:MGI:2159634]|Heterozygous||A|T|38|39.0|Non-synonymous|Alive
6586734|IGL01413|17|58879152|I->V|0.87|Possibly damaging|MGI:1916489|2610034m16rik|RIKEN cDNA 2610034M16 gene [Source:MGI Symbol;Acc:MGI:1916489]|Heterozygous||T|C|36|37.0|Non-synonymous|Alive
6586736|IGL01413|6|54622276|T->I|0.02|Benign|MGI:2681164|Plekha8|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 [Source:MGI Symbol;Acc:MGI:2681164]|Heterozygous||C|T|34|39.5|Non-synonymous|Alive
6586737|IGL01413|11|69432964|L->F|1.0|Probably damaging|MGI:107731|Dnahc2|dynein, axonemal, heavy chain 2 [Source:MGI Symbol;Acc:MGI:107731]|Heterozygous||G|A|33|37.0|Non-synonymous|Alive
6586738|IGL01413|13|46299681|I->L||Benign|MGI:2686420|Gm1574|predicted gene 1574 [Source:MGI Symbol;Acc:MGI:2686420]|Heterozygous||A|T|33|38.0|Non-synonymous|Alive
6586740|IGL01413|13|33093859|D->E|1.0|Probably damaging|MGI:2445361|Serpinb1b|serine (or cysteine) peptidase inhibitor, clade B, member 1b [Source:MGI Symbol;Acc:MGI:2445361]|Heterozygous||T|G|30|38.0|Non-synonymous|Alive
6586741|IGL01413|14|67677894|S->P|0.2|Benign|MGI:1919787|Cdca2|cell division cycle associated 2 [Source:MGI Symbol;Acc:MGI:1919787]|Heterozygous||A|G|30|39.0|Non-synonymous|Alive
6586742|IGL01413|X|136762744|R->H|1.0|Probably damaging|MGI:95750|Glra4|glycine receptor, alpha 4 subunit [Source:MGI Symbol;Acc:MGI:95750]|Heterozygous||C|T|30|39.0|Non-synonymous|Alive
6586743|IGL01413|X|120399585|T->A|0.26|Benign|MGI:2442849|Pcdh11x|protocadherin 11 X-linked [Source:MGI Symbol;Acc:MGI:2442849]|Heterozygous||A|G|29|38.0|Non-synonymous|Alive
6586744|IGL01413|1|37612306|A->V|1.0|Probably damaging|MGI:1919347|2010300c02rik|RIKEN cDNA 2010300C02 gene [Source:MGI Symbol;Acc:MGI:1919347]|Heterozygous||G|A|28|38.0|Non-synonymous|Alive
6586745|IGL01413|14|65638581|T->A|||MGI:2685446|Gm600|predicted gene 600 [Source:MGI Symbol;Acc:MGI:2685446]|Heterozygous||A|G|28|39.0|Non-synonymous|Alive
6586748|IGL01413|13|33151804|L->F|||MGI:894669|Serpinb9c|serine (or cysteine) peptidase inhibitor, clade B, member 9c [Source:MGI Symbol;Acc:MGI:894669]|Heterozygous||G|A|26|37.5|Non-synonymous|Alive
6586749|IGL01413|17|37062706|N->S|0.66|Possibly damaging|MGI:1860139|Gabbr1|gamma-aminobutyric acid (GABA) B receptor, 1 [Source:MGI Symbol;Acc:MGI:1860139]|Heterozygous|Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology.|A|G|26|39.0|Non-synonymous|Alive
6586750|IGL01413|19|56389391|A->S|0.84|Possibly damaging|MGI:1098765|Nrap|nebulin-related anchoring protein [Source:MGI Symbol;Acc:MGI:1098765]|Heterozygous||C|A|26|38.5|Non-synonymous|Alive
6586751|IGL01413|6|40661277|D->G|1.0|Probably damaging|MGI:1203495|Mgam|maltase-glucoamylase [Source:MGI Symbol;Acc:MGI:1203495]|Heterozygous|Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis.|A|G|26|39.0|Non-synonymous|Alive
6586752|IGL01413|8|83929857|I->N|1.0|Probably damaging|MGI:1929461|Lphn1|latrophilin 1 [Source:MGI Symbol;Acc:MGI:1929461]|Heterozygous|Mice homozygous for a targeted null allele at this locus are viable and fertile. Female homozygotes fail adequately to care for their litters.|T|A|26|36.5|Non-synonymous|Alive
6586753|IGL01413|X|13151340|S->G|0.51|Possibly damaging|MGI:894681|Usp9x|ubiquitin specific peptidase 9, X chromosome [Source:MGI Symbol;Acc:MGI:894681]|Heterozygous||A|G|26|38.5|Non-synonymous|Alive
6586755|IGL01413|8|78435105|I->F|0.99|Probably damaging|MGI:102524|Pou4f2|POU domain, class 4, transcription factor 2 [Source:MGI Symbol;Acc:MGI:102524]|Heterozygous|Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment.|T|A|24|33.5|Non-synonymous|Alive
6586756|IGL01413|13|49659952|N->K|0.32|Benign|MGI:1918180|Nol8|nucleolar protein 8 [Source:MGI Symbol;Acc:MGI:1918180]|Heterozygous||T|G|23|38.0|Non-synonymous|Alive
6586757|IGL01413|18|69655019|E->D|0.78|Possibly damaging|MGI:98506|Tcf4|transcription factor 4 [Source:MGI Symbol;Acc:MGI:98506]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal or postnatal lethality, altered immune systems, and abnormal brain development. Mice homozygous for a different knock-out allele exhibit neonatal lethality, absent gastric milk, and necrosis throughout the intestine.|A|C|23|39.0|Non-synonymous|Alive
6586758|IGL01413|15|9676290|I->L||Benign|MGI:2443727|Spef2|sperm flagellar 2 [Source:MGI Symbol;Acc:MGI:2443727]|Heterozygous||T|A|22|38.0|Non-synonymous|Alive
6586759|IGL01413|2|36103516|A->S|||MGI:1306803|Lhx6|LIM homeobox protein 6 [Source:MGI Symbol;Acc:MGI:1306803]|Heterozygous|Homozygous mutation of this gene results in impaired migration and specification of cortical interneurons, postnatal lethality and weakness.|C|A|22|37.5|Non-synonymous|Alive
6586763|IGL01413|10|77690489|P->Q|||MGI:5011587|Gm19402|predicted gene, 19402 [Source:MGI Symbol;Acc:MGI:5011587]|Heterozygous||G|T|16|38.5|Non-synonymous|Alive
6586764|IGL01413|17|37197663|F->I|1.0|Probably damaging|MGI:2177477|Olfr94|olfactory receptor 94 [Source:MGI Symbol;Acc:MGI:2177477]|Heterozygous||A|T|16|39.0|Non-synonymous|Alive
6586765|IGL01413|2|22297600|S->P|||MGI:2183924|Myo3a|myosin IIIA [Source:MGI Symbol;Acc:MGI:2183924]|Heterozygous|Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration.|T|C|16|38.0|Non-synonymous|Alive
6586766|IGL01413|2|31476922|Y->C|1.0|Probably damaging|MGI:88090|Ass1|argininosuccinate synthetase 1 [Source:MGI Symbol;Acc:MGI:88090]|Heterozygous|Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology.|A|G|16|36.5|Non-synonymous|Alive
6586767|IGL01413|15|39080499|L->Q|0.71|Possibly damaging|MGI:1915838|Cthrc1|collagen triple helix repeat containing 1 [Source:MGI Symbol;Acc:MGI:1915838]|Heterozygous|Adult mice homozygous for a null allele exhibit decreased bone mass due to decreased osteoblast number and decreased bone formation.|T|A|14|38.5|Non-synonymous|Alive
6586768|IGL01413|2|67509926|D->V|1.0|Probably damaging|MGI:2685198|Xirp2|xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]|Heterozygous||A|T|14|38.5|Non-synonymous|Alive
6586770|IGL01413|5|110378248|E->D|0.68|Possibly damaging|MGI:1920907|Fbrsl1|fibrosin-like 1 [Source:MGI Symbol;Acc:MGI:1920907]|Heterozygous||T|A|10|39.5|Non-synonymous|Alive
6586774|IGL01413|6|17558896|Disrupted splicing|||MGI:96969|Met|met proto-oncogene [Source:MGI Symbol;Acc:MGI:96969]|Heterozygous|Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental and liver defects.|T|C|17|38.0|Splice|Alive
6586775|IGL01413|18|74805944|Disrupted splicing|||MGI:1098623|Acaa2|acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) [Source:MGI Symbol;Acc:MGI:1098623]|Heterozygous||A|T|11|37.0|Splice|Alive
6586776|IGL01413|6|137745504|Disrupted splicing|||MGI:1329037|Strap|serine/threonine kinase receptor associated protein [Source:MGI Symbol;Acc:MGI:1329037]|Heterozygous|Mice homozygous for a gene trapped allele die between E10.5 and E12.5 displaying defects in angiogenesis, cardiogenesis, somitogenesis, neural tube closure and embryonic turning.|C|A|10|40.0|Splice|Alive
6587402|IGL01414|12|115593309|Y->C|||MGI:3052201, MGI:4439825, MGI:3581248|Ac073939.3||Heterozygous||T|C|124|39.0|Non-synonymous|Alive
6587403|IGL01414|15|81627266|I->K||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|T|A|76|36.0|Non-synonymous|Alive
6587404|IGL01414|1|155201945|R->C|0.98|Probably damaging|MGI:1926235|Stx6|syntaxin 6 [Source:MGI Symbol;Acc:MGI:1926235]|Heterozygous||C|T|53|37.0|Non-synonymous|Alive
6587405|IGL01414|13|92522196|D->E|0.99|Probably damaging|MGI:2145181|Zfyve16|zinc finger, FYVE domain containing 16 [Source:MGI Symbol;Acc:MGI:2145181]|Heterozygous||A|T|52|40.0|Non-synonymous|Alive
6587407|IGL01414|16|38757791|E->G|1.0|Probably damaging|MGI:1928387|B4galt4|UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 4 [Source:MGI Symbol;Acc:MGI:1928387]|Heterozygous||A|G|34|37.0|Non-synonymous|Alive
6587408|IGL01414|X|162774581|I->N|1.0|Probably damaging|MGI:1194910|Rbbp7|retinoblastoma binding protein 7 [Source:MGI Symbol;Acc:MGI:1194910]|Heterozygous||T|A|34|38.0|Non-synonymous|Alive
6587409|IGL01414|4|40222176|V->F|1.0|Probably damaging|MGI:2442858|Ddx58|DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 [Source:MGI Symbol;Acc:MGI:2442858]|Heterozygous||C|A|29|37.0|Non-synonymous|Alive
6587410|IGL01414|11|67342472|T->A||Benign|MGI:1339967|Myh13|myosin, heavy polypeptide 13, skeletal muscle [Source:MGI Symbol;Acc:MGI:1339967]|Heterozygous||A|G|27|36.0|Non-synonymous|Alive
6587411|IGL01414|15|21492689|N->Y|1.0|Probably damaging|MGI:109503|Cdh12|cadherin 12 [Source:MGI Symbol;Acc:MGI:109503]|Heterozygous||A|T|25|34.0|Non-synonymous|Alive
6587412|IGL01414|12|40124699|H->Q|1.0|Probably damaging|MGI:1306794|Scin|scinderin [Source:MGI Symbol;Acc:MGI:1306794]|Heterozygous||A|T|20|36.5|Non-synonymous|Alive
6587413|IGL01414|17|20471680|M->L|0.02|Benign|MGI:3643822|Vmn2r108|vomeronasal 2, receptor 108 [Source:MGI Symbol;Acc:MGI:3643822]|Heterozygous||T|A|19|40.0|Non-synonymous|Alive
6587414|IGL01414|10|80027104|S->T|||MGI:1917969|Hmha1|histocompatibility (minor) HA-1 [Source:MGI Symbol;Acc:MGI:1917969]|Heterozygous||T|A|17|37.0|Non-synonymous|Alive
6587415|IGL01414|3|95765525|F->L|0.99|Probably damaging|MGI:1922387|Rprd2|regulation of nuclear pre-mRNA domain containing 2 [Source:MGI Symbol;Acc:MGI:1922387]|Heterozygous||A|T|17|38.0|Non-synonymous|Alive
6587416|IGL01414|9|48320623|F->L||Benign|MGI:1925502|Nxpe2|neurexophilin and PC-esterase domain family, member 2 [Source:MGI Symbol;Acc:MGI:1925502]|Heterozygous||A|G|16|39.0|Non-synonymous|Alive
6587417|IGL01414|X|101302260|I->V||Benign|MGI:2444609|Nlgn3|neuroligin 3 [Source:MGI Symbol;Acc:MGI:2444609]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired context and cued conditioning, hyperactivity, abnormal social investigation, abnormal vocalization, decreased brain size, and impaired olfaction.|A|G|16|33.5|Non-synonymous|Alive
6587418|IGL01414|17|48249815|V->L|0.96|Probably damaging|MGI:1930003|Trem3|triggering receptor expressed on myeloid cells 3 [Source:MGI Symbol;Acc:MGI:1930003]|Heterozygous||G|T|15|37.0|Non-synonymous|Alive
6587419|IGL01414|7|132642520|K->E|1.0|Probably damaging|MGI:1923679|Lhpp|phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Source:MGI Symbol;Acc:MGI:1923679]|Heterozygous||A|G|14|37.5|Non-synonymous|Alive
6587420|IGL01414|18|37519496|N->S|1.0|Probably damaging|MGI:2136760|Pcdhb22|protocadherin beta 22 [Source:MGI Symbol;Acc:MGI:2136760]|Heterozygous||A|G|12|33.5|Non-synonymous|Alive
6587421|IGL01414|19|44997996|Y->C|1.0|Probably damaging|MGI:1347047|Sema4g|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G [Source:MGI Symbol;Acc:MGI:1347047]|Heterozygous|Mice homozygous for a targeted allele exhibit normal cerebellar morphology.|A|G|12|37.5|Non-synonymous|Alive
6587422|IGL01414|1|126528713|Q->K|0.89|Possibly damaging|MGI:2686394|Nckap5|NCK-associated protein 5 [Source:MGI Symbol;Acc:MGI:2686394]|Heterozygous||G|T|11|38.0|Non-synonymous|Alive
6587423|IGL01414|15|86159142|T->S||Benign|MGI:2386052|Cerk|ceramide kinase [Source:MGI Symbol;Acc:MGI:2386052]|Heterozygous|Mice homozygous for a null allele exhibit reduced body weight, increased susceptibility to infection and decreased neutrophil numbers.|T|A|10|35.0|Non-synonymous|Alive
6587424|IGL01414|5|139758498|D->G|||MGI:1915760|Ints1|integrator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1915760]|Heterozygous|Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage.|T|C|10|36.5|Non-synonymous|Alive
6587430|IGL01414|13|100409173|Disrupted splicing|||MGI:1298223|Naip1|NLR family, apoptosis inhibitory protein 1 [Source:MGI Symbol;Acc:MGI:1298223]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|T|C|22|39.0|Splice|Alive
6587431|IGL01414|7|30068078|Disrupted splicing|||MGI:1890753|Zfp82|zinc finger protein 82 [Source:MGI Symbol;Acc:MGI:1890753]|Heterozygous||T|G|14|39.0|Splice|Alive
6587432|IGL01414|3|27127729|Disrupted splicing|||MGI:95281|Ect2|ect2 oncogene [Source:MGI Symbol;Acc:MGI:95281]|Heterozygous|Homozygous disruption of this locus is embryonic lethal.|A|T|12|38.5|Splice|Alive
6587433|IGL01414|4|156195239|Disrupted splicing|||MGI:87961|Agrn|agrin [Source:MGI Symbol;Acc:MGI:87961]|Heterozygous||C|T|12|38.5|Splice|Alive
6588040|IGL01415|13|100303290|E->G|0.01|Benign|MGI:1298222|Naip6|NLR family, apoptosis inhibitory protein 6 [Source:MGI Symbol;Acc:MGI:1298222]|Heterozygous||T|C|57|38.0|Non-synonymous|Alive
6588044|IGL01415|17|65813527|E->K|0.56|Possibly damaging|MGI:1917601|Ppp4r1|protein phosphatase 4, regulatory subunit 1 [Source:MGI Symbol;Acc:MGI:1917601]|Heterozygous||G|A|27|37.0|Non-synonymous|Alive
6588045|IGL01415|19|6310851|D->G|1.0|Probably damaging|MGI:2652845|Cdc42bpg|CDC42 binding protein kinase gamma (DMPK-like) [Source:MGI Symbol;Acc:MGI:2652845]|Heterozygous||A|G|27|37.0|Non-synonymous|Alive
6588046|IGL01415|7|6711653|I->T|0.18|Benign|MGI:104748|Peg3|paternally expressed 3 [Source:MGI Symbol;Acc:MGI:104748]|Heterozygous|Heterozygous mutant females exhibit growth retardation, impaired maternal behavior and diminished milk ejection, and fewer oxytocin neurons.|A|G|26|38.0|Non-synonymous|Alive
6588048|IGL01415|1|54752928|H->R|1.0|Probably damaging|MGI:3045243|Ankrd44|ankyrin repeat domain 44 [Source:MGI Symbol;Acc:MGI:3045243]|Heterozygous||T|C|23|38.0|Non-synonymous|Alive
6588049|IGL01415|12|113271391|L->R|0.85|Possibly damaging|MGI:2685746|Ighe|Immunoglobulin heavy constant epsilon [Source:MGI Symbol;Acc:MGI:2685746]|Heterozygous||A|C|23|39.0|Non-synonymous|Alive
6588050|IGL01415|15|82177462|I->V|0.01|Benign|MGI:107585|Srebf2|sterol regulatory element binding factor 2 [Source:MGI Symbol;Acc:MGI:107585]|Heterozygous||A|G|19|37.0|Non-synonymous|Alive
6588051|IGL01415|3|146909599|S->A|0.89|Possibly damaging|MGI:1918142|Ttll7|tubulin tyrosine ligase-like family, member 7 [Source:MGI Symbol;Acc:MGI:1918142]|Heterozygous||T|G|19|38.0|Non-synonymous|Alive
6588053|IGL01415|9|70034457|H->Q||Benign|MGI:1919327|Gcnt3|glucosaminyl (N-acetyl) transferase 3, mucin type [Source:MGI Symbol;Acc:MGI:1919327]|Heterozygous|Homozygote null mice have decreases in core 2 O-glycan structures on cell surfaces, decreased immunoglobulin levels, and disrupted mucosal barrier in the intestines.|G|T|18|37.5|Non-synonymous|Alive
6588054|IGL01415|6|116314869|R->Q|||MGI:1914742|Zfand4|zinc finger, AN1-type domain 4 [Source:MGI Symbol;Acc:MGI:1914742]|Heterozygous||G|A|16|39.0|Non-synonymous|Alive
6588055|IGL01415|10|127665103|L->Q|1.0|Probably damaging|MGI:107563|Nab2|Ngfi-A binding protein 2 [Source:MGI Symbol;Acc:MGI:107563]|Heterozygous|Homozygous null mice are viable and fertile with normal myelination.|A|T|15|38.0|Non-synonymous|Alive
6588056|IGL01415|15|89428784|L->H|1.0|Probably damaging|MGI:1328313|Chkb|choline kinase beta [Source:MGI Symbol;Acc:MGI:1328313]|Heterozygous|Homozygous null mice display progressive muscular weakness and dystrophy in the hindlimbs but have normal nerve and neuromuscular junction morphology.|A|T|15|37.0|Non-synonymous|Alive
6588058|IGL01415|6|124438822|Q->Stop||N/A|MGI:2178323|Clstn3|calsyntenin 3 [Source:MGI Symbol;Acc:MGI:2178323]|Heterozygous||G|A|14|40.0|Non-synonymous|Alive
6588059|IGL01415|1|92511252|Y->H|1.0|Probably damaging|MGI:3031248|Olfr1414|olfactory receptor 1414 [Source:MGI Symbol;Acc:MGI:3031248]|Heterozygous||A|G|13|37.0|Non-synonymous|Alive
6588060|IGL01415|5|115941903|K->E|0.42|Benign|MGI:105313|Cit|citron [Source:MGI Symbol;Acc:MGI:105313]|Heterozygous|Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors.|A|G|13|40.0|Non-synonymous|Alive
6588061|IGL01415|12|52271070|V->E|0.99|Probably damaging|MGI:1924076|Nubpl|nucleotide binding protein-like [Source:MGI Symbol;Acc:MGI:1924076]|Heterozygous||T|A|11|40.0|Non-synonymous|Alive
6588062|IGL01415|1|55696396|V->M|0.89|Possibly damaging|MGI:3036262|Plcl1|phospholipase C-like 1 [Source:MGI Symbol;Acc:MGI:3036262]|Heterozygous||G|A|10|39.0|Non-synonymous|Alive
6588063|IGL01415|10|62393859|N->Y|1.0|Probably damaging|MGI:2384910|Hkdc1|hexokinase domain containing 1 [Source:MGI Symbol;Acc:MGI:2384910]|Heterozygous||T|A|10|38.0|Non-synonymous|Alive
6588064|IGL01415|11|103200928|Q->R|1.0|Probably damaging|MGI:1916691|1700023f06rik|RIKEN cDNA 1700023F06 gene [Source:MGI Symbol;Acc:MGI:1916691]|Heterozygous||T|C|10|40.0|Non-synonymous|Alive
6588065|IGL01415|12|103108685|N->D|0.99|Probably damaging|MGI:2684729|Unc79|unc-79 homolog (C. elegans) [Source:MGI Symbol;Acc:MGI:2684729]|Heterozygous||A|G|10|37.5|Non-synonymous|Alive
6588066|IGL01415|19|6912732|W->C|1.0|Probably damaging|MGI:1346831|Esrra|estrogen related receptor, alpha [Source:MGI Symbol;Acc:MGI:1346831]|Heterozygous|Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes.|C|A|10|38.0|Non-synonymous|Alive
6588067|IGL01415|2|166867355|M->I|0.92|Possibly damaging|MGI:2139354|Arfgef2|ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) [Source:MGI Symbol;Acc:MGI:2139354]|Heterozygous||G|A|10|39.0|Non-synonymous|Alive
6588068|IGL01415|3|86098185|A->T||Benign|MGI:1350923|Sh3d19|SH3 domain protein D19 [Source:MGI Symbol;Acc:MGI:1350923]|Heterozygous||G|A|10|40.0|Non-synonymous|Alive
6588069|IGL01415|8|109962073|T->I|||MGI:1920858|Marveld3|MARVEL (membrane-associating) domain containing 3 [Source:MGI Symbol;Acc:MGI:1920858]|Heterozygous||G|A|10|36.0|Non-synonymous|Alive
6588076|IGL01415|1|179532130|Disrupted splicing|||MGI:107937|Tfb2m|transcription factor B2, mitochondrial [Source:MGI Symbol;Acc:MGI:107937]|Heterozygous||A|G|32|40.0|Splice|Alive
6588077|IGL01415|19|8914694|Disrupted splicing|||MGI:1097667|Ganab|alpha glucosidase 2 alpha neutral subunit [Source:MGI Symbol;Acc:MGI:1097667]|Heterozygous||A|G|31|40.0|Splice|Alive
6588676|IGL01416|4|144331204|E->V|1.0|Probably damaging|MGI:3651261|Gm13128|predicted gene 13128 [Source:MGI Symbol;Acc:MGI:3651261]|Heterozygous||A|T|125|37.0|Non-synonymous|Alive
6588677|IGL01416|2|103467872|I->T|0.4|Benign|MGI:88271|Cat|catalase [Source:MGI Symbol;Acc:MGI:88271]|Heterozygous|Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration.|A|G|116|38.0|Non-synonymous|Alive
6588678|IGL01416|19|28892871|I->T|1.0|Probably damaging|MGI:105083|Slc1a1|solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 [Source:MGI Symbol;Acc:MGI:105083]|Heterozygous|Mice homozygous for disruptions in this gene display reduced locomotor activity and excessive excretion of glutamate and aspartate.|T|C|107|38.0|Non-synonymous|Alive
6588679|IGL01416|4|144158427|K->R|1.0|Probably damaging|MGI:2684047|Oog3|oogenesin 3 [Source:MGI Symbol;Acc:MGI:2684047]|Heterozygous||T|C|100|39.5|Non-synonymous|Alive
6588680|IGL01416|10|127459516|F->I|0.99|Probably damaging|MGI:1919000|R3hdm2|R3H domain containing 2 [Source:MGI Symbol;Acc:MGI:1919000]|Heterozygous||T|A|94|40.0|Non-synonymous|Alive
6588681|IGL01416|12|108158302|V->A|0.27|Benign|MGI:1289184|Setd3|SET domain containing 3 [Source:MGI Symbol;Acc:MGI:1289184]|Heterozygous||A|G|91|40.0|Non-synonymous|Alive
6588682|IGL01416|3|95132883|T->P|1.0|Probably damaging|MGI:1341284|Scnm1-ps|sodium channel modifier 1, pseudogene [Source:MGI Symbol;Acc:MGI:1341284]|Heterozygous||T|G|88|37.0|Non-synonymous|Alive
6588683|IGL01416|4|120098113|Y->N|0.84|Possibly damaging|MGI:106589|Hivep3|human immunodeficiency virus type I enhancer binding protein 3 [Source:MGI Symbol;Acc:MGI:106589]|Heterozygous|Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells.|T|A|85|39.0|Non-synonymous|Alive
6588684|IGL01416|2|90689172|F->L|0.95|Possibly damaging|MGI:1926227|Nup160|nucleoporin 160 [Source:MGI Symbol;Acc:MGI:1926227]|Heterozygous||T|A|75|40.0|Non-synonymous|Alive
6588685|IGL01416|11|70041470|S->P||Benign|MGI:1277959|Dlg4|discs, large homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:1277959]|Heterozygous|Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model.|T|C|67|34.0|Non-synonymous|Alive
6588686|IGL01416|17|31215164|I->T|0.08|Benign|MGI:1926074|Ubash3a|ubiquitin associated and SH3 domain containing, A [Source:MGI Symbol;Acc:MGI:1926074]|Heterozygous|Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages.|T|C|64|37.0|Non-synonymous|Alive
6588687|IGL01416|3|79083510|N->S|1.0|Probably damaging|MGI:2659071|Rapgef2|Rap guanine nucleotide exchange factor (GEF) 2 [Source:MGI Symbol;Acc:MGI:2659071]|Heterozygous|Mice homozygous for a knock-out allele exhibit embryonic lethality between E11.5 and E12.5 associated with impaired embryo hematopoeisis.|T|C|64|39.0|Non-synonymous|Alive
6588688|IGL01416|5|37288920|H->L||Benign|MGI:107793|Crmp1|collapsin response mediator protein 1 [Source:MGI Symbol;Acc:MGI:107793]|Heterozygous|Mice homozygous for one knock-out allele show transient postnatal changes in granule cell proliferation, apoptosis and migration in cerebellum and delayed radial migration of cortical neurons in cerebral cortex. Homozygotes for another knock-out allele show reduced LTP and impaired spatial learning.|A|T|62|33.0|Non-synonymous|Alive
6588689|IGL01416|17|18022343|I->T|0.02|Benign|MGI:1278317|Fpr-rs4|formyl peptide receptor, related sequence 4 [Source:MGI Symbol;Acc:MGI:1278317]|Heterozygous||T|C|56|40.0|Non-synonymous|Alive
6588690|IGL01416|5|144794675|P->S|1.0|Probably damaging|MGI:2153272|Trrap|transformation/transcription domain-associated protein [Source:MGI Symbol;Acc:MGI:2153272]|Heterozygous|Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells.|C|T|53|36.0|Non-synonymous|Alive
6588691|IGL01416|3|108428202|Y->F||Benign|MGI:102809|Sars|seryl-aminoacyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:102809]|Heterozygous||T|A|50|35.0|Non-synonymous|Alive
6588692|IGL01416|11|98157702|V->A||Unknown|MGI:1100846|Med1|mediator complex subunit 1 [Source:MGI Symbol;Acc:MGI:1100846]|Heterozygous|Homozygotes for targeted null mutations have defects of placental vasculature, heart, and lens, arrested erythrocytic differentiation, impaired neuronal development, and die by embryonic day 11.5.|A|G|48|36.0|Non-synonymous|Alive
6588693|IGL01416|X|38084752|T->A|0.28|Benign|MGI:2681831|Rhox11|reproductive homeobox 11 [Source:MGI Symbol;Acc:MGI:2681831]|Heterozygous||T|C|45|35.0|Non-synonymous|Alive
6588694|IGL01416|19|8678471|I->T|0.68|Possibly damaging|MGI:88396|Chrm1|cholinergic receptor, muscarinic 1, CNS [Source:MGI Symbol;Acc:MGI:88396]|Heterozygous|Homozygotes for targeted null mutations exhibit resistance to pilocarpine-induced seizures, selective memory deficits, elevated dopaminergic transmission in the striatum, and increased spontaneous and amphetamine-induced locomotion.|T|C|43|36.0|Non-synonymous|Alive
6588695|IGL01416|5|122567318|K->N|1.0|Probably damaging|MGI:1098597|Ift81|intraflagellar transport 81 [Source:MGI Symbol;Acc:MGI:1098597]|Heterozygous||C|A|41|39.0|Non-synonymous|Alive
6588696|IGL01416|X|139336835|H->Q||Unknown|MGI:98818|Trap1a|tumor rejection antigen P1A [Source:MGI Symbol;Acc:MGI:98818]|Heterozygous|Tumor rejection antigens to mouse mastocytoma P815 were identified and transfectants expressing tumor rejection antigens in vitro obtained. The gene coding for the antigens is identical with the gene present in normal cells. This gene, Trap1a, has little/no expression in non-tumor cells.|T|A|41|38.0|Non-synonymous|Alive
6588697|IGL01416|10|114800787|I->V||Benign|MGI:2384311|Trhde|TRH-degrading enzyme [Source:MGI Symbol;Acc:MGI:2384311]|Heterozygous||T|C|39|37.0|Non-synonymous|Alive
6588698|IGL01416|9|96687612|L->P|1.0|Probably damaging|MGI:2442866|Zbtb38|zinc finger and BTB domain containing 38 [Source:MGI Symbol;Acc:MGI:2442866]|Heterozygous||A|G|39|39.0|Non-synonymous|Alive
6588699|IGL01416|8|80615035|I->N|||MGI:2685641|Frem3|Fras1 related extracellular matrix protein 3 [Source:MGI Symbol;Acc:MGI:2685641]|Heterozygous||T|A|35|39.0|Non-synonymous|Alive
6588700|IGL01416|16|96023763|C->R|1.0|Probably damaging|MGI:1890651|Brwd1|bromodomain and WD repeat domain containing 1 [Source:MGI Symbol;Acc:MGI:1890651]|Heterozygous|Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages.|A|G|32|37.0|Non-synonymous|Alive
6588701|IGL01416|19|53851798|Q->K|0.01|Benign|MGI:1920963|Rbm20|RNA binding motif protein 20 [Source:MGI Symbol;Acc:MGI:1920963]|Heterozygous||C|A|32|38.5|Non-synonymous|Alive
6588702|IGL01416|6|113615781|S->T|1.0|Probably damaging|MGI:1915406|Brk1|BRICK1, SCAR/WAVE actin-nucleating complex subunit [Source:MGI Symbol;Acc:MGI:1915406]|Heterozygous||T|A|32|37.0|Non-synonymous|Alive
6588703|IGL01416|5|38714961|V->A|0.01|Benign|MGI:1351468|Clnk|cytokine-dependent hematopoietic cell linker [Source:MGI Symbol;Acc:MGI:1351468]|Heterozygous||A|G|31|39.0|Non-synonymous|Alive
6588704|IGL01416|17|46259278|V->A|1.0|Probably damaging|MGI:1921344|Tjap1|tight junction associated protein 1 [Source:MGI Symbol;Acc:MGI:1921344]|Heterozygous||A|G|30|36.0|Non-synonymous|Alive
6588705|IGL01416|8|109998316|H->R||Benign|MGI:98487|Tat|tyrosine aminotransferase [Source:MGI Symbol;Acc:MGI:98487]|Heterozygous||A|G|29|38.0|Non-synonymous|Alive
6588706|IGL01416|15|78766837|F->V|1.0|Probably damaging|MGI:1095404|Mfng|MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Source:MGI Symbol;Acc:MGI:1095404]|Heterozygous|Mice homozygous for a null mutation are viable and fertile with normal pancreatic development, morphology and physiology.|A|C|26|38.5|Non-synonymous|Alive
6588707|IGL01416|2|24349485|K->R||Benign|MGI:96547|Il1rn|interleukin 1 receptor antagonist [Source:MGI Symbol;Acc:MGI:96547]|Heterozygous|Mice homozygous for a knock-out allele may exhibit increased inflammatory response to turpentine and LPS, decreased susceptibility to bacterial infection, psoriasis, aoritis, rheumatoid arthritis, and abnormal dendritic and T cell morphology.|A|G|26|40.0|Non-synonymous|Alive
6588708|IGL01416|2|65136474|D->E|0.01|Benign|MGI:2442894|Cobll1|Cobl-like 1 [Source:MGI Symbol;Acc:MGI:2442894]|Heterozygous||A|T|26|38.5|Non-synonymous|Alive
6588709|IGL01416|1|175601546|I->F|1.0|Probably damaging|MGI:95530|Fh1|fumarate hydratase 1 [Source:MGI Symbol;Acc:MGI:95530]|Heterozygous|Embryos homozygous for a knock-out allele fail to develop past the egg-cylinder stage and die at E6.0.|T|A|25|38.0|Non-synonymous|Alive
6588710|IGL01416|14|70588003|E->D|0.99|Probably damaging|MGI:3036290|Fam160b2|family with sequence similarity 160, member B2 [Source:MGI Symbol;Acc:MGI:3036290]|Heterozygous||C|A|25|38.0|Non-synonymous|Alive
6588711|IGL01416|15|81601165|I->V||Unknown|MGI:1276116|Ep300|E1A binding protein p300 [Source:MGI Symbol;Acc:MGI:1276116]|Heterozygous|Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period.|A|G|25|38.0|Non-synonymous|Alive
6588712|IGL01416|10|121740126|W->R|1.0|Probably damaging|MGI:2670984|Bc048403|cDNA sequence BC048403 [Source:MGI Symbol;Acc:MGI:2670984]|Heterozygous||T|A|24|35.0|Non-synonymous|Alive
6588713|IGL01416|11|9683328|V->A|0.03|Benign|MGI:2388707|Abca13|ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]|Heterozygous||T|C|24|39.5|Non-synonymous|Alive
6588714|IGL01416|4|123209052|D->Y|0.9|Possibly damaging|MGI:2155700|Nt5c1a|5'-nucleotidase, cytosolic IA [Source:MGI Symbol;Acc:MGI:2155700]|Heterozygous||G|T|24|39.5|Non-synonymous|Alive
6588715|IGL01416|15|83119257|S->P|0.23|Benign|MGI:1922028|Rrp7a|ribosomal RNA processing 7 homolog A (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1922028]|Heterozygous||A|G|23|35.0|Non-synonymous|Alive
6588716|IGL01416|2|83755897|V->A|1.0|Probably damaging|MGI:96608|Itgav|integrin alpha V [Source:MGI Symbol;Acc:MGI:96608]|Heterozygous|Homozygotes for a targeted null mutation exhibit placental defects, intracerebral and intestinal hemorrhages, and cleft palate, resulting in death occurring as early as midgestation and as late as shortly after birth.|T|C|23|38.0|Non-synonymous|Alive
6588717|IGL01416|17|26121544|L->Q|1.0|Probably damaging|MGI:1926283|Tmem8|transmembrane protein 8 (five membrane-spanning domains) [Source:MGI Symbol;Acc:MGI:1926283]|Heterozygous||T|A|22|35.0|Non-synonymous|Alive
6588718|IGL01416|4|32669004|L->P|||MGI:1926159|Mdn1|midasin homolog (yeast) [Source:MGI Symbol;Acc:MGI:1926159]|Heterozygous||T|C|22|39.5|Non-synonymous|Alive
6588719|IGL01416|7|126857782|R->K|0.01|Benign|MGI:2141881|Ino80e|INO80 complex subunit E [Source:MGI Symbol;Acc:MGI:2141881]|Heterozygous||C|T|22|34.5|Non-synonymous|Alive
6588720|IGL01416|18|42192619|T->S|0.15|Benign|MGI:1916651|Plac8l1|PLAC8-like 1 [Source:MGI Symbol;Acc:MGI:1916651]|Heterozygous||T|A|21|37.0|Non-synonymous|Alive
6588721|IGL01416|3|100925407|Q->K|1.0|Probably damaging|MGI:1918187|Trim45|tripartite motif-containing 45 [Source:MGI Symbol;Acc:MGI:1918187]|Heterozygous||C|A|20|36.5|Non-synonymous|Alive
6588722|IGL01416|14|32863642|D->E|0.19|Benign|MGI:2444633|Vstm4|V-set and transmembrane domain containing 4 [Source:MGI Symbol;Acc:MGI:2444633]|Heterozygous||C|A|19|39.0|Non-synonymous|Alive
6588723|IGL01416|19|47668704|E->G|1.0|Probably damaging|MGI:88450|Col17a1|collagen, type XVII, alpha 1 [Source:MGI Symbol;Acc:MGI:88450]|Heterozygous|Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.|T|C|19|37.0|Non-synonymous|Alive
6588724|IGL01416|2|30285254|C->R|0.28|Benign|MGI:2677836|Dolk|dolichol kinase [Source:MGI Symbol;Acc:MGI:2677836]|Heterozygous||A|G|17|39.0|Non-synonymous|Alive
6588725|IGL01416|2|74657994|G->C|0.96|Probably damaging|MGI:95462|Evx2|even skipped homeotic gene 2 homolog [Source:MGI Symbol;Acc:MGI:95462]|Heterozygous||C|A|16|35.0|Non-synonymous|Alive
6588726|IGL01416|1|43985449|K->E|0.39|Benign|MGI:102724|Tpp2|tripeptidyl peptidase II [Source:MGI Symbol;Acc:MGI:102724]|Heterozygous|Engineered mutations of this gene result in decreased lifespan and symptoms of immunohematopoietic senescence.|A|G|15|40.0|Non-synonymous|Alive
6588727|IGL01416|10|27031176|V->M|||MGI:99912|Lama2|laminin, alpha 2 [Source:MGI Symbol;Acc:MGI:99912]|Heterozygous|Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life.|C|T|14|35.5|Non-synonymous|Alive
6588728|IGL01416|15|82109545|L->Q|||MGI:3028590|Mei1|meiosis defective 1 [Source:MGI Symbol;Acc:MGI:3028590]|Heterozygous||T|A|14|36.0|Non-synonymous|Alive
6588729|IGL01416|15|85818930|K->R|||MGI:1338786|Pkdrej|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin) [Source:MGI Symbol;Acc:MGI:1338786]|Heterozygous|Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm.|T|C|14|34.5|Non-synonymous|Alive
6588730|IGL01416|19|12210070|Y->C|0.88|Possibly damaging|MGI:3031265|Olfr1431|olfactory receptor 1431 [Source:MGI Symbol;Acc:MGI:3031265]|Heterozygous||A|G|14|40.0|Non-synonymous|Alive
6588731|IGL01416|3|27491140|V->D|0.99|Probably damaging|MGI:1919257|Fndc3b|fibronectin type III domain containing 3B [Source:MGI Symbol;Acc:MGI:1919257]|Heterozygous|Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis.|A|T|14|31.0|Non-synonymous|Alive
6588732|IGL01416|7|28091540|V->E|1.0|Probably damaging|MGI:2444336|Fcgbp|Fc fragment of IgG binding protein [Source:MGI Symbol;Acc:MGI:2444336]|Heterozygous||T|A|14|37.0|Non-synonymous|Alive
6588733|IGL01416|4|115525555|M->V|0.08|Benign|MGI:88611|Cyp4a10|cytochrome P450, family 4, subfamily a, polypeptide 10 [Source:MGI Symbol;Acc:MGI:88611]|Heterozygous|Mice homozygous for a null mutation display salt-sensitive hypertension, decrease sodium excretion, and decreased urine output.|A|G|13|34.0|Non-synonymous|Alive
6588734|IGL01416|8|111172491|M->K|0.7|Possibly damaging|MGI:104967|Glg1|golgi apparatus protein 1 [Source:MGI Symbol;Acc:MGI:104967]|Heterozygous|Mice homozygous for a knock-out allele show reduced body size, narrow rib cages, short and thin bony elements, decreased chondrocyte proliferation and reduced epiphyseal growth plates. Mice homozygous for a gene trapped allele show postnatal death, small body size, distorted tails and cleft palate.|A|T|13|34.0|Non-synonymous|Alive
6588735|IGL01416|11|72447966|D->G|0.08|Benign|MGI:106181|Mybbp1a|MYB binding protein (P160) 1a [Source:MGI Symbol;Acc:MGI:106181]|Heterozygous||A|G|12|39.5|Non-synonymous|Alive
6588736|IGL01416|5|101889325|I->N|0.5|Possibly damaging|MGI:1096875|Wdfy3|WD repeat and FYVE domain containing 3 [Source:MGI Symbol;Acc:MGI:1096875]|Heterozygous||A|T|12|37.5|Non-synonymous|Alive
6588737|IGL01416|5|134516118|E->A|1.0|Probably damaging|MGI:1313136|Clip2|CAP-GLY domain containing linker protein 2 [Source:MGI Symbol;Acc:MGI:1313136]|Heterozygous|Mice homozygous and heterozygous for disruptions in this gene display growth deficiency, brain abnormalities and hippocampal dysfunction and deficits in motor coordination.|T|G|12|36.0|Non-synonymous|Alive
6588742|IGL01416|6|4635888|Disrupted splicing|||MGI:2384865|Casd1|CAS1 domain containing 1 [Source:MGI Symbol;Acc:MGI:2384865]|Heterozygous||T|C|31|40.0|Splice|Alive
6588743|IGL01416|1|121501248|Disrupted splicing|||MGI:1918079|Ccdc93|coiled-coil domain containing 93 [Source:MGI Symbol;Acc:MGI:1918079]|Heterozygous||T|C|27|38.0|Splice|Alive
6588744|IGL01416|7|30901167|Disrupted splicing|||MGI:96912|Mag|myelin-associated glycoprotein [Source:MGI Symbol;Acc:MGI:96912]|Heterozygous|Homozygotes for targeted null mutations exhibit delayed CNS myelination, late myelin degeneration in peripheral nerves, hypomyelination of optic nerves, and subtle intention tremors.|T|C|21|39.0|Splice|Alive
6588745|IGL01416|14|57036922|Disrupted splicing|||MGI:95714|Gja3|gap junction protein, alpha 3 [Source:MGI Symbol;Acc:MGI:95714]|Heterozygous|Homozygous mutants exhibit lens nuclear cataracts associated with breakdown of gamma crystallin. Severity of the defect is influenced by genetic background.|A|G|15|39.0|Splice|Alive
6589958|IGL01418|11|83004636|D->G|1.0|Probably damaging|MGI:2672859|Slfn8|schlafen 8 [Source:MGI Symbol;Acc:MGI:2672859]|Heterozygous||T|C|55|39.0|Non-synonymous|Alive
6589959|IGL01418|11|74364984|V->A|0.16|Benign|MGI:3030246|Olfr412|olfactory receptor 412 [Source:MGI Symbol;Acc:MGI:3030246]|Heterozygous||T|C|51|38.0|Non-synonymous|Alive
6589960|IGL01418|2|87868465|V->A|0.11|Benign|MGI:3030986|Olfr1152|olfactory receptor 1152 [Source:MGI Symbol;Acc:MGI:3030986]|Heterozygous||T|C|47|39.0|Non-synonymous|Alive
6589962|IGL01418|8|22095269|I->S|0.98|Probably damaging|MGI:2142824|Nek5|NIMA (never in mitosis gene a)-related expressed kinase 5 [Source:MGI Symbol;Acc:MGI:2142824]|Heterozygous||A|C|44|39.0|Non-synonymous|Alive
6589963|IGL01418|10|88905033|C->F|1.0|Probably damaging|MGI:2384916|Slc5a8|solute carrier family 5 (iodide transporter), member 8 [Source:MGI Symbol;Acc:MGI:2384916]|Heterozygous|Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine.|G|T|42|39.0|Non-synonymous|Alive
6589966|IGL01418|13|99431830|I->K||Unknown|MGI:1306778|Mtap1b|microtubule-associated protein 1B [Source:MGI Symbol;Acc:MGI:1306778]|Heterozygous|Mice homozygous for one knock-out allele die prior to E8.5. While mice homozygous for other knock-out alleles exhibit behavioral, visual system, and nervous system defects.|A|T|34|38.0|Non-synonymous|Alive
6589969|IGL01418|2|111489639|E->G|0.26|Benign|MGI:3031124|Olfr1290|olfactory receptor 1290 [Source:MGI Symbol;Acc:MGI:3031124]|Heterozygous||T|C|31|39.0|Non-synonymous|Alive
6589972|IGL01418|1|44167280|K->R|0.02|Benign|MGI:103582|Ercc5|excision repair cross-complementing rodent repair deficiency, complementation group 5 [Source:MGI Symbol;Acc:MGI:103582]|Heterozygous|Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation.|A|G|28|38.0|Non-synonymous|Alive
6589973|IGL01418|2|173118331|E->G|0.02|Benign|MGI:3652571|Ctcfl|CCCTC-binding factor (zinc finger protein)-like [Source:MGI Symbol;Acc:MGI:3652571]|Heterozygous||T|C|28|37.0|Non-synonymous|Alive
6589976|IGL01418|13|107414532|H->L|0.8|Possibly damaging|MGI:3649039|Apoo-ps|apolipoprotein O, pseudogene [Source:MGI Symbol;Acc:MGI:3649039]|Heterozygous||T|A|24|37.5|Non-synonymous|Alive
6589978|IGL01418|2|69525286|V->I||Benign|MGI:95794|Lrp2|low density lipoprotein receptor-related protein 2 [Source:MGI Symbol;Acc:MGI:95794]|Heterozygous|Homozygotes for a targeted null mutation exhibit lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.|C|T|23|39.0|Non-synonymous|Alive
6589979|IGL01418|7|17745599|A->T|1.0|Probably damaging|MGI:1920500|Ceacam5|carcinoembryonic antigen-related cell adhesion molecule 5 [Source:MGI Symbol;Acc:MGI:1920500]|Heterozygous||G|A|23|36.0|Non-synonymous|Alive
6589981|IGL01418|10|94190690|M->L|0.86|Possibly damaging|MGI:1352465|Nr2c1|nuclear receptor subfamily 2, group C, member 1 [Source:MGI Symbol;Acc:MGI:1352465]|Heterozygous|Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in testis development or in spermatogenesis; no gross defects were detected in the central nervous system and normal motor neuron cell numbers were noted.|A|T|18|38.5|Non-synonymous|Alive
6589982|IGL01418|12|117987482|W->Stop||N/A|MGI:1100864|Dnahc11|dynein, axonemal, heavy chain 11 [Source:MGI Symbol;Acc:MGI:1100864]|Heterozygous|Approximately half of live-born homozygous mutants show situs inversus indicating that this gene is no longer properly controlling left-right asymmetry.|C|T|18|38.5|Non-synonymous|Alive
6589983|IGL01418|14|47530784|C->S|0.15|Benign|MGI:1926188|Fbxo34|F-box protein 34 [Source:MGI Symbol;Acc:MGI:1926188]|Heterozygous||T|A|18|36.0|Non-synonymous|Alive
6589984|IGL01418|3|63920262|L->R|1.0|Probably damaging|MGI:3607716|E130311k13rik|RIKEN cDNA E130311K13 gene [Source:MGI Symbol;Acc:MGI:3607716]|Heterozygous||A|C|18|36.5|Non-synonymous|Alive
6589985|IGL01418|7|35793812|D->V|1.0|Probably damaging|MGI:1916378|Zfp507|zinc finger protein 507 [Source:MGI Symbol;Acc:MGI:1916378]|Heterozygous||T|A|18|38.5|Non-synonymous|Alive
6589990|IGL01418|14|68525206|H->L||Benign|MGI:107247|Adam7|a disintegrin and metallopeptidase domain 7 [Source:MGI Symbol;Acc:MGI:107247]|Heterozygous||T|A|11|40.0|Non-synonymous|Alive
6589991|IGL01418|2|13284041|V->I|0.02|Benign|MGI:1931256|Cubn|cubilin (intrinsic factor-cobalamin receptor) [Source:MGI Symbol;Acc:MGI:1931256]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death.|C|T|11|38.0|Non-synonymous|Alive
6589992|IGL01418|9|66967763|D->G|0.91|Possibly damaging|MGI:1933395|Lactb|lactamase, beta [Source:MGI Symbol;Acc:MGI:1933395]|Heterozygous||T|C|11|37.0|Non-synonymous|Alive
6589993|IGL01418|17|14945134|V->L|||MGI:1919307|Phf10|PHD finger protein 10 [Source:MGI Symbol;Acc:MGI:1919307]|Heterozygous||C|A|10|36.0|Non-synonymous|Alive
6589998|IGL01418|6|108339624|Disrupted splicing|||MGI:96623|Itpr1|inositol 1,4,5-trisphosphate receptor 1 [Source:MGI Symbol;Acc:MGI:96623]|Heterozygous|Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.|T|A|14|39.0|Splice|Alive
6590588|IGL01419|12|105604781|H->R|0.66|Possibly damaging|MGI:88144|Bdkrb1|bradykinin receptor, beta 1 [Source:MGI Symbol;Acc:MGI:88144]|Heterozygous|Mice homozygous for one null allele display hypoalgesia and altered inflammatory responses while those homozygous for another are reported to have a normal phenotype.|A|G|224|38.0|Non-synonymous|Alive
6590589|IGL01419|19|44096981|I->K|1.0|Probably damaging|MGI:99484|Chuk|conserved helix-loop-helix ubiquitous kinase [Source:MGI Symbol;Acc:MGI:99484]|Heterozygous|Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.|A|T|224|39.0|Non-synonymous|Alive
6590590|IGL01419|9|109381722|Y->F|0.04|Benign|MGI:3643290|Fbxw22|F-box and WD-40 domain protein 22 [Source:MGI Symbol;Acc:MGI:3643290]|Heterozygous||T|A|188|40.0|Non-synonymous|Alive
6590591|IGL01419|13|81557158|E->G|0.98|Probably damaging|MGI:1274784|Gpr98|G protein-coupled receptor 98 [Source:MGI Symbol;Acc:MGI:1274784]|Heterozygous|Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells.|T|C|94|39.0|Non-synonymous|Alive
6590592|IGL01419|10|61548095|S->C|0.92|Possibly damaging|MGI:2387182|Lrrc20|leucine rich repeat containing 20 [Source:MGI Symbol;Acc:MGI:2387182]|Heterozygous||A|T|87|37.0|Non-synonymous|Alive
6590593|IGL01419|11|115126354|K->E|0.06|Benign|MGI:2442359|Cd300lf|CD300 antigen like family member F [Source:MGI Symbol;Acc:MGI:2442359]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased severity of experimental autoimmune encephalomyelitis with increased demyelination.|T|C|86|38.5|Non-synonymous|Alive
6590594|IGL01419|14|63818876|Y->H|1.0|Probably damaging|MGI:2447765|Xkr6|X Kell blood group precursor related family member 6 homolog [Source:MGI Symbol;Acc:MGI:2447765]|Heterozygous||T|C|80|38.0|Non-synonymous|Alive
6590595|IGL01419|13|11799837|E->V|0.02|Benign|MGI:99685|Ryr2|ryanodine receptor 2, cardiac [Source:MGI Symbol;Acc:MGI:99685]|Heterozygous|Mice homozygous for a null mutation display embryonic lethality during organogenesis and abnormal cardiomyocyte morphology. Mice homozygous for a phosphorylation defective allele display decreased susceptibility to myocardial infarction-induced heart failure.|T|A|70|35.0|Non-synonymous|Alive
6590596|IGL01419|16|15835166|P->Q|0.94|Possibly damaging|MGI:104779|Prkdc|protein kinase, DNA activated, catalytic polypeptide [Source:MGI Symbol;Acc:MGI:104779]|Heterozygous|Mutations at this locus effect genome stability, radiation sensitivity and DNA repair. Nonsense (scid) and null homozygotes have severe combined immunodeficiency. A BALB/c variant allele reduces enzyme activity and predisposes to breast cancer.|C|A|60|38.0|Non-synonymous|Alive
6590597|IGL01419|17|20279545|K->E||Benign|MGI:3647787|Vmn2r106|vomeronasal 2, receptor 106 [Source:MGI Symbol;Acc:MGI:3647787]|Heterozygous||T|C|60|40.0|Non-synonymous|Alive
6590598|IGL01419|2|51627747|Y->Stop||N/A|MGI:2681300|Tas2r134|taste receptor, type 2, member 134 [Source:MGI Symbol;Acc:MGI:2681300]|Heterozygous||T|A|60|40.0|Non-synonymous|Alive
6590599|IGL01419|13|13635838|S->G|||MGI:107448|Lyst|lysosomal trafficking regulator [Source:MGI Symbol;Acc:MGI:107448]|Heterozygous|Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells.|A|G|57|40.0|Non-synonymous|Alive
6590600|IGL01419|17|78796510|H->Y|0.01|Benign|MGI:2444098|Heatr5b|HEAT repeat containing 5B [Source:MGI Symbol;Acc:MGI:2444098]|Heterozygous||G|A|56|39.0|Non-synonymous|Alive
6590601|IGL01419|2|86228629|I->N|0.76|Possibly damaging|MGI:3030881|Olfr1047|olfactory receptor 1047 [Source:MGI Symbol;Acc:MGI:3030881]|Heterozygous||A|T|56|39.0|Non-synonymous|Alive
6590602|IGL01419|4|118476098|D->G|1.0|Probably damaging|MGI:99906|Tie1|tyrosine kinase with immunoglobulin-like and EGF-like domains 1 [Source:MGI Symbol;Acc:MGI:99906]|Heterozygous|Homozygous mutation of this gene results in embryonic or neonatal lethality, hemorrhages, edema, increased vascular branching, and abnormal vascular endothelial cell development. Mice homozygous for a hypomorphic allele exhibit dilated and disorganized lymphatic vessel, edema, and hemorrhage.|T|C|52|34.5|Non-synonymous|Alive
6590603|IGL01419|2|25437514|T->S|1.0|Probably damaging|MGI:99606|Abca2|ATP-binding cassette, sub-family A (ABC1), member 2 [Source:MGI Symbol;Acc:MGI:99606]|Heterozygous|Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,|A|T|50|37.0|Non-synonymous|Alive
6590604|IGL01419|5|86891405|W->R|1.0|Probably damaging|MGI:2140962|Ugt2b34|UDP glucuronosyltransferase 2 family, polypeptide B34 [Source:MGI Symbol;Acc:MGI:2140962]|Heterozygous||A|T|49|37.0|Non-synonymous|Alive
6590605|IGL01419|2|22935577|M->V|0.75|Possibly damaging|MGI:1889278|Pdss1|prenyl (solanesyl) diphosphate synthase, subunit 1 [Source:MGI Symbol;Acc:MGI:1889278]|Heterozygous||A|G|44|39.0|Non-synonymous|Alive
6590606|IGL01419|2|30257099|T->A|0.03|Benign|MGI:2652847|Lrrc8a|leucine rich repeat containing 8A [Source:MGI Symbol;Acc:MGI:2652847]|Heterozygous||A|G|43|35.0|Non-synonymous|Alive
6590607|IGL01419|2|178279062|T->I|0.01|Benign|MGI:1921439|Phactr3|phosphatase and actin regulator 3 [Source:MGI Symbol;Acc:MGI:1921439]|Heterozygous||C|T|41|35.0|Non-synonymous|Alive
6590608|IGL01419|11|51654776|S->L||Unknown|MGI:2144709|D930048n14rik|RIKEN cDNA D930048N14 gene [Source:MGI Symbol;Acc:MGI:2144709]|Heterozygous||C|T|39|37.0|Non-synonymous|Alive
6590609|IGL01419|8|36850217|T->A||Benign|MGI:1354949|Dlc1|deleted in liver cancer 1 [Source:MGI Symbol;Acc:MGI:1354949]|Heterozygous|Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta.|T|C|39|38.0|Non-synonymous|Alive
6590610|IGL01419|18|58609209|D->E||Benign|MGI:3036230|Slc27a6|solute carrier family 27 (fatty acid transporter), member 6 [Source:MGI Symbol;Acc:MGI:3036230]|Heterozygous||T|A|38|38.0|Non-synonymous|Alive
6590611|IGL01419|19|55309754|F->L|0.02|Benign|MGI:1914230|Zdhhc6|zinc finger, DHHC domain containing 6 [Source:MGI Symbol;Acc:MGI:1914230]|Heterozygous||A|G|38|39.0|Non-synonymous|Alive
6590612|IGL01419|3|103038770|T->A|1.0|Probably damaging|MGI:92356|Csde1|cold shock domain containing E1, RNA binding [Source:MGI Symbol;Acc:MGI:92356]|Heterozygous||A|G|37|39.0|Non-synonymous|Alive
6590613|IGL01419|17|55593000|L->F|0.03|Benign|MGI:3761695|Vmn2r118|vomeronasal 2, receptor 118 [Source:MGI Symbol;Acc:MGI:3761695]|Heterozygous||G|A|36|38.5|Non-synonymous|Alive
6590614|IGL01419|19|25119452|S->G|0.02|Benign|MGI:1921396|Dock8|dedicator of cytokinesis 8 [Source:MGI Symbol;Acc:MGI:1921396]|Heterozygous|Mice homozygous for inactivating mutations of this gene exhibit loss of marginal zone B cells, decrease in peritoneal B1 cells and peripheral naive T cells, failure of sustained antibody response after immunization, failure of germinal center persistence, and failure of B cell affinity maturation.|A|G|36|38.0|Non-synonymous|Alive
6590615|IGL01419|6|120215390|S->P|0.11|Benign|MGI:3041155|B4galnt3|beta-1,4-N-acetyl-galactosaminyl transferase 3 [Source:MGI Symbol;Acc:MGI:3041155]|Heterozygous||A|G|36|35.0|Non-synonymous|Alive
6590616|IGL01419|7|89407735|A->E|0.99|Probably damaging|MGI:108520|Fzd4|frizzled homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:108520]|Heterozygous|Mice homozygous for disruptions in this gene display abnormalities in hearing, locomotion, retinal morphology, and degeneration of the cerebellum.|C|A|36|38.5|Non-synonymous|Alive
6590617|IGL01419|7|86225702|M->K|0.96|Probably damaging|MGI:3761332|Vmn2r76|vomeronasal 2, receptor 76 [Source:MGI Symbol;Acc:MGI:3761332]|Heterozygous||A|T|34|38.5|Non-synonymous|Alive
6590618|IGL01419|11|101159057|D->E||Benign|MGI:2144208|Tubg2|tubulin, gamma 2 [Source:MGI Symbol;Acc:MGI:2144208]|Heterozygous|Homozygous null mice are viable and fertile with normal weight and no significant histological abnormalities in the brain or other tissues.|C|A|31|39.0|Non-synonymous|Alive
6590619|IGL01419|8|126428155|D->G|0.77|Possibly damaging|MGI:4936930|Gm17296|predicted gene, 17296 [Source:MGI Symbol;Acc:MGI:4936930]|Heterozygous||T|C|31|35.0|Non-synonymous|Alive
6590620|IGL01419|19|44997396|S->G||Benign|MGI:1347047|Sema4g|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G [Source:MGI Symbol;Acc:MGI:1347047]|Heterozygous|Mice homozygous for a targeted allele exhibit normal cerebellar morphology.|A|G|30|37.0|Non-synonymous|Alive
6590621|IGL01419|15|66931051|V->A|0.08|Benign|MGI:1341799|Ndrg1|N-myc downstream regulated gene 1 [Source:MGI Symbol;Acc:MGI:1341799]|Heterozygous|Homozygous null mice exhibit a progressive demyelinating disorder of the peripheral nerves overtly resulting in progressive hindlimb weakness.|A|G|28|37.0|Non-synonymous|Alive
6590622|IGL01419|2|28835069|Y->C|1.0|Probably damaging|MGI:2138937|Gtf3c4|general transcription factor IIIC, polypeptide 4 [Source:MGI Symbol;Acc:MGI:2138937]|Heterozygous||T|C|27|38.0|Non-synonymous|Alive
6590623|IGL01419|3|146755693|M->K|0.94|Possibly damaging|MGI:97594|Prkacb|protein kinase, cAMP dependent, catalytic, beta [Source:MGI Symbol;Acc:MGI:97594]|Heterozygous|Homozygotes for a targeted null mutation eliminating the Cbeta1 subunit exhibit impaired hippocampal plasticity, including failure of low frequency stimulation to produce lasting depression and the elimination of mossy fiber long term potentiation.|A|T|27|37.0|Non-synonymous|Alive
6590624|IGL01419|15|76241388|F->L|1.0|Probably damaging|MGI:3712326|Parp10|poly (ADP-ribose) polymerase family, member 10 [Source:MGI Symbol;Acc:MGI:3712326]|Heterozygous||A|G|26|35.0|Non-synonymous|Alive
6590625|IGL01419|9|3385354|R->G|1.0|Probably damaging|MGI:1914917|Alkbh8|alkB, alkylation repair homolog 8 (E. coli) [Source:MGI Symbol;Acc:MGI:1914917]|Heterozygous|Homozygous mutants show no obvious phenotype at 20 months of age.|A|G|24|40.0|Non-synonymous|Alive
6590626|IGL01419|12|8002251|I->F|0.92|Possibly damaging|MGI:88052|Apob|apolipoprotein B [Source:MGI Symbol;Acc:MGI:88052]|Heterozygous|Homozygous null mutants usually die by midgestation and longer survivors exhibit exencephaly. Heterozygotes show reduced plasma cholesterol and apolipoprotein levels. Single isoform B100 and B48 null mutants are viable.|A|T|23|40.0|Non-synonymous|Alive
6590627|IGL01419|16|92348646|F->L|0.02|Benign|MGI:96673|Kcne1|potassium voltage-gated channel, Isk-related subfamily, member 1 [Source:MGI Symbol;Acc:MGI:96673]|Heterozygous|Homozygotes for targeted and spontaneous null mutations exhibit head-shaking, circling, ataxia, and severe deafness associated with inner ear defects. Older mutants show increased numbers of T cells. Study of cardiac myocytes in one line showed physiologic defects.|G|T|23|37.0|Non-synonymous|Alive
6590628|IGL01419|1|93421950|D->G|||MGI:4937049, MGI:99256|Hdlbp,gm17415|predicted gene, 17415 [Source:MGI Symbol;Acc:MGI:4937049],high density lipoprotein (HDL) binding protein [Source:MGI Symbol;Acc:MGI:99256]|Heterozygous||A|G|22|35.0|Non-synonymous|Alive
6590629|IGL01419|13|67786802|I->M|0.38|Benign|MGI:1920208|Zfp493|zinc finger protein 493 [Source:MGI Symbol;Acc:MGI:1920208]|Heterozygous||T|G|22|39.0|Non-synonymous|Alive
6590630|IGL01419|11|107686514|I->S||Unknown|MGI:1925705|Helz|helicase with zinc finger domain [Source:MGI Symbol;Acc:MGI:1925705]|Heterozygous|Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects.|T|G|21|34.0|Non-synonymous|Alive
6590631|IGL01419|11|29546353|T->A|0.21|Benign|MGI:1925544|Rps27a|ribosomal protein S27A [Source:MGI Symbol;Acc:MGI:1925544]|Heterozygous||T|C|18|35.0|Non-synonymous|Alive
6590632|IGL01419|14|86965553|G->Stop||N/A|MGI:1927222|Diap3|diaphanous homolog 3 (Drosophila) [Source:MGI Symbol;Acc:MGI:1927222]|Heterozygous||C|A|17|38.0|Non-synonymous|Alive
6590633|IGL01419|4|143133648|P->H|1.0|Probably damaging|MGI:107628|Prdm2|PR domain containing 2, with ZNF domain [Source:MGI Symbol;Acc:MGI:107628]|Heterozygous|Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas.|G|T|17|35.0|Non-synonymous|Alive
6590634|IGL01419|7|112087911|M->K|0.79|Possibly damaging|MGI:1922246|Usp47|ubiquitin specific peptidase 47 [Source:MGI Symbol;Acc:MGI:1922246]|Heterozygous|Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation.|T|A|17|40.0|Non-synonymous|Alive
6590635|IGL01419|17|35114518|L->P|0.88|Possibly damaging|MGI:2385809|Ly6g5b|lymphocyte antigen 6 complex, locus G5B [Source:MGI Symbol;Acc:MGI:2385809]|Heterozygous||A|G|16|36.0|Non-synonymous|Alive
6590636|IGL01419|7|4957529|L->P|0.99|Probably damaging|MGI:2685925|Sbk2|SH3-binding domain kinase family, member 2 [Source:MGI Symbol;Acc:MGI:2685925]|Heterozygous||A|G|16|38.5|Non-synonymous|Alive
6590637|IGL01419|18|77777533|S->P|0.86|Possibly damaging|MGI:88115|Atp5a1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 [Source:MGI Symbol;Acc:MGI:88115]|Heterozygous||T|C|13|35.0|Non-synonymous|Alive
6590638|IGL01419|16|32680680|N->S|||MGI:1858308|Tnk2|tyrosine kinase, non-receptor, 2 [Source:MGI Symbol;Acc:MGI:1858308]|Heterozygous||A|G|11|34.0|Non-synonymous|Alive
6590639|IGL01419|2|104722110|Y->N|0.96|Probably damaging|MGI:2139258|Depdc7|DEP domain containing 7 [Source:MGI Symbol;Acc:MGI:2139258]|Heterozygous||A|T|11|38.0|Non-synonymous|Alive
6590640|IGL01419|2|52226533|Y->Stop||N/A|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|T|10|37.0|Non-synonymous|Alive
6590641|IGL01419|3|37048121|S->P|1.0|Probably damaging|MGI:2444631|4932438a13rik|RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]|Heterozygous||T|C|10|40.0|Non-synonymous|Alive
6590642|IGL01419|5|109362401|Disrupted splicing|||MGI:3647194|Vmn2r16|vomeronasal 2, receptor 16 [Source:MGI Symbol;Acc:MGI:3647194]|Heterozygous||C|T|135|39.0|Splice|Alive
6590643|IGL01419|19|58828249|Disrupted splicing|||MGI:1920692|Hspa12a|heat shock protein 12A [Source:MGI Symbol;Acc:MGI:1920692]|Heterozygous||T|C|56|34.5|Splice|Alive
6590644|IGL01419|9|107679434|Disrupted splicing|||MGI:95778|Gnat1|guanine nucleotide binding protein, alpha transducing 1 [Source:MGI Symbol;Acc:MGI:95778]|Heterozygous|Mice homozygous for disruption of this gene display retinal degeneration with age and abnormal electrophysiology of the rods.|C|T|50|34.0|Splice|Alive
6590645|IGL01419|2|89296345|Disrupted splicing|||MGI:3031064|Olfr1230|olfactory receptor 1230 [Source:MGI Symbol;Acc:MGI:3031064]|Heterozygous||T|C|46|39.0|Splice|Alive
6590646|IGL01419|1|139739644|Disrupted splicing|||MGI:3646434|Gm4788|predicted gene 4788 [Source:MGI Symbol;Acc:MGI:3646434]|Heterozygous||T|C|42|38.0|Splice|Alive
6590647|IGL01419|7|4486352|Disrupted splicing|||MGI:1924258|Ppp1r12c|protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:MGI Symbol;Acc:MGI:1924258]|Heterozygous||A|C|32|36.5|Splice|Alive
6590648|IGL01419|17|84583552|Disrupted splicing|||MGI:2146813|Plekhh2|pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 [Source:MGI Symbol;Acc:MGI:2146813]|Heterozygous||A|T|13|38.0|Splice|Alive
6590649|IGL01419|10|61205542|Disrupted splicing|||MGI:2179942|Adamts14|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14 [Source:MGI Symbol;Acc:MGI:2179942]|Heterozygous||A|T|11|35.0|Splice|Alive
6591249|IGL01420|12|70045414|A->V||Benign|MGI:105108|Nin|ninein [Source:MGI Symbol;Acc:MGI:105108]|Heterozygous||G|A|137|37.0|Non-synonymous|Alive
6591250|IGL01420|10|117785021|L->Q|1.0|Probably damaging|MGI:2143854|Nup107|nucleoporin 107 [Source:MGI Symbol;Acc:MGI:2143854]|Heterozygous||A|T|80|39.0|Non-synonymous|Alive
6591251|IGL01420|2|125563652|D->E|0.34|Benign|MGI:2139083|Cep152|centrosomal protein 152 [Source:MGI Symbol;Acc:MGI:2139083]|Heterozygous||A|T|74|39.5|Non-synonymous|Alive
6591252|IGL01420|15|11858632|N->D|1.0|Probably damaging|MGI:97373|Npr3|natriuretic peptide receptor 3 [Source:MGI Symbol;Acc:MGI:97373]|Heterozygous||T|C|73|37.0|Non-synonymous|Alive
6591253|IGL01420|14|30051638|V->I|0.09|Benign|MGI:88293|Cacna1d|calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293]|Heterozygous|Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia.|C|T|68|39.0|Non-synonymous|Alive
6591254|IGL01420|10|61702051|T->A|0.99|Probably damaging|MGI:1919017|Tysnd1|trypsin domain containing 1 [Source:MGI Symbol;Acc:MGI:1919017]|Heterozygous||A|G|64|38.0|Non-synonymous|Alive
6591255|IGL01420|2|181354401|I->T|0.02|Benign|MGI:2139369|Rtel1|regulator of telomere elongation helicase 1 [Source:MGI Symbol;Acc:MGI:2139369]|Heterozygous|Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells.|T|C|62|40.0|Non-synonymous|Alive
6591256|IGL01420|1|86387391|T->A|||MGI:1341898|Nmur1|neuromedin U receptor 1 [Source:MGI Symbol;Acc:MGI:1341898]|Heterozygous|Homozygous null mice are healthy and viable.|T|C|55|35.0|Non-synonymous|Alive
6591257|IGL01420|8|104523165|Q->K||Benign|MGI:2384561|Nae1|NEDD8 activating enzyme E1 subunit 1 [Source:MGI Symbol;Acc:MGI:2384561]|Heterozygous||G|T|55|40.0|Non-synonymous|Alive
6591258|IGL01420|11|120106460|E->V|0.96|Probably damaging|MGI:1919305|Slc38a10|solute carrier family 38, member 10 [Source:MGI Symbol;Acc:MGI:1919305]|Heterozygous||T|A|53|34.0|Non-synonymous|Alive
6591259|IGL01420|11|116145996|T->A|0.07|Benign|MGI:1922033|Fbf1|Fas (TNFRSF6) binding factor 1 [Source:MGI Symbol;Acc:MGI:1922033]|Heterozygous||T|C|52|36.0|Non-synonymous|Alive
6591260|IGL01420|19|4734125|T->A||Benign|MGI:3054746, MGI:1313261|Spnb3|spectrin beta 3 [Source:MGI Symbol;Acc:MGI:1313261]|Heterozygous|Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing rate in surviving Purkinje cells.|A|G|48|36.0|Non-synonymous|Alive
6591261|IGL01420|7|126292012|K->R|0.09|Benign|MGI:2135937|Sbk1|SH3-binding kinase 1 [Source:MGI Symbol;Acc:MGI:2135937]|Heterozygous||A|G|47|36.0|Non-synonymous|Alive
6591262|IGL01420|6|24755872|K->E||Benign|MGI:1924292|Hyal4|hyaluronoglucosaminidase 4 [Source:MGI Symbol;Acc:MGI:1924292]|Heterozygous||A|G|44|40.0|Non-synonymous|Alive
6591263|IGL01420|9|108082828|R->H|0.98|Probably damaging|MGI:96080|Mst1|macrophage stimulating 1 (hepatocyte growth factor-like) [Source:MGI Symbol;Acc:MGI:96080]|Heterozygous|Mice homozygous for a knock-out allele exhibit lipid-filled cytoplasmic vacuoles in hepatocytes throughout the liver lobules.|G|A|44|37.0|Non-synonymous|Alive
6591264|IGL01420|4|123240174|Q->K|0.94|Possibly damaging|MGI:1860511|Heyl|hairy/enhancer-of-split related with YRPW motif-like [Source:MGI Symbol;Acc:MGI:1860511]|Heterozygous|Mice homozygous for a knock-out allele exhibit reduced TrkC+ sensory neurons in the dorsal root ganglia.|C|A|43|38.0|Non-synonymous|Alive
6591265|IGL01420|3|81141443|S->T||Benign|MGI:1859631|Pdgfc|platelet-derived growth factor, C polypeptide [Source:MGI Symbol;Acc:MGI:1859631]|Heterozygous|Homozygous mutation of this gene results neonatal and postnatal lethality with cleft palate, hypoplastic palatine bones, edema, blistering, and a short nasal septum with one allele or abnormal retinal pigmentation with a second allele.|T|A|41|39.0|Non-synonymous|Alive
6591266|IGL01420|2|80345023|S->P|0.6|Possibly damaging|MGI:1914111|Dnajc10|DnaJ (Hsp40) homolog, subfamily C, member 10 [Source:MGI Symbol;Acc:MGI:1914111]|Heterozygous|Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland.|T|C|40|40.0|Non-synonymous|Alive
6591267|IGL01420|7|28140133|M->K||Benign|MGI:2442118|9530053a07rik|RIKEN cDNA 9530053A07 gene [Source:MGI Symbol;Acc:MGI:2442118]|Heterozygous||T|A|39|37.0|Non-synonymous|Alive
6591268|IGL01420|15|9102984|S->P|1.0|Probably damaging|MGI:1915896|Nadkd1|NAD kinase domain containing 1 [Source:MGI Symbol;Acc:MGI:1915896]|Heterozygous||T|C|36|39.0|Non-synonymous|Alive
6591269|IGL01420|2|52157377|Y->H|0.99|Probably damaging|MGI:97292|Neb|nebulin [Source:MGI Symbol;Acc:MGI:97292]|Heterozygous||A|G|35|39.0|Non-synonymous|Alive
6591270|IGL01420|11|78499374|I->L||Benign|MGI:98940|Vtn|vitronectin [Source:MGI Symbol;Acc:MGI:98940]|Heterozygous|Homozygotes and heterozygotes for a targeted null mutation appear to develop, mature, and reproduce normally.|A|T|34|38.5|Non-synonymous|Alive
6591271|IGL01420|3|59319650|I->V||Benign|MGI:1923481|Igsf10|immunoglobulin superfamily, member 10 [Source:MGI Symbol;Acc:MGI:1923481]|Heterozygous||T|C|32|39.0|Non-synonymous|Alive
6591272|IGL01420|4|141389332|R->L||Benign|MGI:1329026|Clcnka|chloride channel Ka [Source:MGI Symbol;Acc:MGI:1329026]|Heterozygous|Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity.|C|A|30|37.5|Non-synonymous|Alive
6591273|IGL01420|6|84149759|Q->Stop||N/A|MGI:1349385|Dysf|dysferlin [Source:MGI Symbol;Acc:MGI:1349385]|Heterozygous|Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time.|C|T|30|38.0|Non-synonymous|Alive
6591274|IGL01420|3|108393763|H->R|0.04|Benign|MGI:1858235|Celsr2|cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858235]|Heterozygous|Mice homozygous for disruptions in this allele have mild to moderately dilated lateral ventricles in the brain but are otherwise normal.|T|C|29|36.0|Non-synonymous|Alive
6591275|IGL01420|5|89703057|M->K|0.22|Benign|MGI:3045353|Adamts3|a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3 [Source:MGI Symbol;Acc:MGI:3045353]|Heterozygous||A|T|27|39.0|Non-synonymous|Alive
6591276|IGL01420|6|47865934|M->V||Benign|MGI:1917856|Zfp398|zinc finger protein 398 [Source:MGI Symbol;Acc:MGI:1917856]|Heterozygous||A|G|26|35.5|Non-synonymous|Alive
6591277|IGL01420|17|36898411|M->V|0.01|Benign|MGI:2385051|Trim31|tripartite motif-containing 31 [Source:MGI Symbol;Acc:MGI:2385051]|Heterozygous||A|G|25|38.0|Non-synonymous|Alive
6591278|IGL01420|12|11291658|Y->C|0.06|Benign|MGI:1914491|Smc6|structural maintenance of chromosomes 6 [Source:MGI Symbol;Acc:MGI:1914491]|Heterozygous||A|G|23|40.0|Non-synonymous|Alive
6591279|IGL01420|4|118612940|I->F|0.46|Possibly damaging|MGI:2686209|Wdr65|WD repeat domain 65 [Source:MGI Symbol;Acc:MGI:2686209]|Heterozygous||T|A|23|38.0|Non-synonymous|Alive
6591280|IGL01420|2|76712076|D->G||Unknown|MGI:98864|Ttn|titin [Source:MGI Symbol;Acc:MGI:98864]|Heterozygous|Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age.|T|C|21|38.0|Non-synonymous|Alive
6591281|IGL01420|2|16650139|V->D|1.0|Probably damaging|MGI:1914698|Plxdc2|plexin domain containing 2 [Source:MGI Symbol;Acc:MGI:1914698]|Heterozygous|Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system.|T|A|20|38.5|Non-synonymous|Alive
6591282|IGL01420|8|110742713|K->E|0.96|Probably damaging|MGI:1923777|Il34|interleukin 34 [Source:MGI Symbol;Acc:MGI:1923777]|Heterozygous||T|C|20|39.0|Non-synonymous|Alive
6591283|IGL01420|7|100454858|V->A|0.56|Possibly damaging|MGI:2142166|C2cd3|C2 calcium-dependent domain containing 3 [Source:MGI Symbol;Acc:MGI:2142166]|Heterozygous|Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect.|T|C|19|36.0|Non-synonymous|Alive
6591284|IGL01420|7|141357663|S->T|0.45|Possibly damaging|MGI:2138828|Eps8l2|EPS8-like 2 [Source:MGI Symbol;Acc:MGI:2138828]|Heterozygous||T|A|19|39.0|Non-synonymous|Alive
6591285|IGL01420|2|155407587|P->S|0.96|Probably damaging|MGI:1929915|Ncoa6|nuclear receptor coactivator 6 [Source:MGI Symbol;Acc:MGI:1929915]|Heterozygous|Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation.|G|A|18|37.5|Non-synonymous|Alive
6591286|IGL01420|11|54992363|Y->C|1.0|Probably damaging|MGI:88255|Anxa6|annexin A6 [Source:MGI Symbol;Acc:MGI:88255]|Heterozygous||T|C|17|39.0|Non-synonymous|Alive
6591287|IGL01420|11|116126509|V->L|1.0|Probably damaging|MGI:2442815|Trim65|tripartite motif-containing 65 [Source:MGI Symbol;Acc:MGI:2442815]|Heterozygous||C|A|16|37.5|Non-synonymous|Alive
6591288|IGL01420|2|22858280|I->F|0.87|Possibly damaging|MGI:1861354|Apbb1ip|amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein [Source:MGI Symbol;Acc:MGI:1861354]|Heterozygous||A|T|16|39.0|Non-synonymous|Alive
6591289|IGL01420|3|73702009|H->R|0.19|Benign|MGI:894278|Bche|butyrylcholinesterase [Source:MGI Symbol;Acc:MGI:894278]|Heterozygous|Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities.|T|C|16|38.0|Non-synonymous|Alive
6591290|IGL01420|1|87389044|T->A|1.0|Probably damaging|MGI:3781032, MGI:2138584|Gigyf2,kcnj13|GRB10 interacting GYF protein 2 [Source:MGI Symbol;Acc:MGI:2138584],potassium inwardly-rectifying channel, subfamily J, member 13 [Source:MGI Symbol;Acc:MGI:3781032]|Heterozygous|Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration.,NO_PHENOTYPE|T|C|15|38.0|Non-synonymous|Alive
6591291|IGL01420|17|63385052|V->M|1.0|Probably damaging|MGI:1354704|Fbxl17|F-box and leucine-rich repeat protein 17 [Source:MGI Symbol;Acc:MGI:1354704]|Heterozygous||C|T|14|38.5|Non-synonymous|Alive
6591292|IGL01420|7|25092952|N->D|0.77|Possibly damaging|MGI:101897|Pou2f2|POU domain, class 2, transcription factor 2 [Source:MGI Symbol;Acc:MGI:101897]|Heterozygous|Homozygous inactivation of this locus results in failed B cell maturation and death within hours of birth.|T|C|14|35.0|Non-synonymous|Alive
6591293|IGL01420|3|123350009|N->S||Benign|MGI:1916858|Sec24d|Sec24 related gene family, member D (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1916858]|Heterozygous||A|G|13|35.0|Non-synonymous|Alive
6591294|IGL01420|4|140570338|D->G|0.93|Possibly damaging|MGI:1920004|Arhgef10l|Rho guanine nucleotide exchange factor (GEF) 10-like [Source:MGI Symbol;Acc:MGI:1920004]|Heterozygous||T|C|13|37.0|Non-synonymous|Alive
6591295|IGL01420|1|128345875|L->P|1.0|Probably damaging|MGI:1298227|Mcm6|minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1298227]|Heterozygous|Mice homozygous for a gene trapped allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit increased micronulei-containing red blood cells.|A|G|12|39.0|Non-synonymous|Alive
6591296|IGL01420|3|92500384|V->E||Unknown|MGI:2654508|Sprr4|small proline-rich protein 4 [Source:MGI Symbol;Acc:MGI:2654508]|Heterozygous||A|T|10|38.5|Non-synonymous|Alive
6591298|IGL01420|16|31101819|Disrupted splicing|||MGI:1925868|Acap2|ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Source:MGI Symbol;Acc:MGI:1925868]|Heterozygous||A|G|49|40.0|Splice|Alive
6591299|IGL01420|5|114023820|Disrupted splicing|||MGI:94859|Dao|D-amino acid oxidase [Source:MGI Symbol;Acc:MGI:94859]|Heterozygous|Homozygous null mice display increased levels of D-serine and a decrease in the severity of behavioral effects induced by NMDA receptor antagonists.|T|A|33|38.0|Splice|Alive
6591300|IGL01420|8|68887433|Disrupted splicing|||MGI:96820|Lpl|lipoprotein lipase [Source:MGI Symbol;Acc:MGI:96820]|Heterozygous|Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels.|T|C|32|38.0|Splice|Alive
6591301|IGL01420|X|75390865|Disrupted splicing|||MGI:1914641|Fundc2|FUN14 domain containing 2 [Source:MGI Symbol;Acc:MGI:1914641]|Heterozygous||T|C|23|39.0|Splice|Alive
6591302|IGL01420|17|55799785|Disrupted splicing|||MGI:1196464|Emr4|EGF-like module containing, mucin-like, hormone receptor-like sequence 4 [Source:MGI Symbol;Acc:MGI:1196464]|Heterozygous||T|C|22|37.5|Splice|Alive
6591303|IGL01420|9|108841190|Disrupted splicing|||MGI:1858236|Celsr3|cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) [Source:MGI Symbol;Acc:MGI:1858236]|Heterozygous|Mice homozygous for a null allele exhibit neonatal lethality, abnormal neurvous system development, and abnormal respiratory system development.|A|G|18|32.0|Splice|Alive
6591304|IGL01420|2|62504502|Disrupted splicing|||MGI:109608|Fap|fibroblast activation protein [Source:MGI Symbol;Acc:MGI:109608]|Heterozygous|Mice homozygous for a targeted null mutations exhibit no discernable phenotype; mice are viable and fertile with no change in cancer susceptibility.|A|G|16|40.0|Splice|Alive
6591305|IGL01420|10|89725165|Disrupted splicing|||MGI:1914269|Actr6|ARP6 actin-related protein 6 [Source:MGI Symbol;Acc:MGI:1914269]|Heterozygous||A|T|15|38.0|Splice|Alive
6591935|IGL01417|6|66679207|I->F||Benign|MGI:2159444|Vmn1r35|vomeronasal 1 receptor 35 [Source:MGI Symbol;Acc:MGI:2159444]|Heterozygous||T|A|91|37.0|Non-synonymous|Alive
6591936|IGL01417|11|103196694|D->G||Unknown|MGI:1888994|Fmnl1|formin-like 1 [Source:MGI Symbol;Acc:MGI:1888994]|Heterozygous||A|G|61|35.0|Non-synonymous|Alive
6591937|IGL01417|10|126993874|I->T|0.19|Benign|MGI:1098748|Ctdsp2|CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 [Source:MGI Symbol;Acc:MGI:1098748]|Heterozygous||T|C|59|39.0|Non-synonymous|Alive
6591938|IGL01417|15|58356194|I->L|||MGI:1917037|Anxa13|annexin A13 [Source:MGI Symbol;Acc:MGI:1917037]|Heterozygous||T|A|54|40.0|Non-synonymous|Alive
6591939|IGL01417|1|53584600|K->E|||MGI:2685838|Dnahc7a|dynein, axonemal, heavy chain 7A [Source:MGI Symbol;Acc:MGI:2685838]|Heterozygous||T|C|50|36.0|Non-synonymous|Alive
6591940|IGL01417|7|34192745|L->R|0.98|Probably damaging|MGI:1915329|Pdcd2l|programmed cell death 2-like [Source:MGI Symbol;Acc:MGI:1915329]|Heterozygous||A|C|50|37.0|Non-synonymous|Alive
6591941|IGL01417|7|49770825|V->I|0.91|Possibly damaging|MGI:1859271|Htatip2|HIV-1 tat interactive protein 2, homolog (human) [Source:MGI Symbol;Acc:MGI:1859271]|Heterozygous|Inactivation of this gene increases susceptibility to tumorigenesis.|G|A|32|37.0|Non-synonymous|Alive
6591942|IGL01417|13|51431164|R->G|0.26|Benign|MGI:106179|Shc3|src homology 2 domain-containing transforming protein C3 [Source:MGI Symbol;Acc:MGI:106179]|Heterozygous|Mice homozygous for disruptions in this gene display a normal phenotype.|T|C|30|35.0|Non-synonymous|Alive
6591943|IGL01417|14|7905513|S->P|0.64|Possibly damaging|MGI:2446089|Flnb|filamin, beta [Source:MGI Symbol;Acc:MGI:2446089]|Heterozygous|Mouse homozygous for disruption of coding region due to a gene trapped vector exhibit partial prenatal and postnatal lethality, alteration in skeletal system including fusion of vertebrae and other skeletal elements.|T|C|28|37.5|Non-synonymous|Alive
6591944|IGL01417|5|136039066|I->T|0.76|Possibly damaging|MGI:2140882|Upk3b|uroplakin 3B [Source:MGI Symbol;Acc:MGI:2140882]|Heterozygous||T|C|28|38.5|Non-synonymous|Alive
6591945|IGL01417|7|18264783|R->L|0.94|Possibly damaging|MGI:2179988|Mill1|MHC I like leukocyte 1 [Source:MGI Symbol;Acc:MGI:2179988]|Heterozygous||G|T|28|37.5|Non-synonymous|Alive
6591946|IGL01417|1|150859239|D->G|0.99|Probably damaging|MGI:2685047|Hmcn1|hemicentin 1 [Source:MGI Symbol;Acc:MGI:2685047]|Heterozygous||T|C|27|39.0|Non-synonymous|Alive
6591947|IGL01417|3|123006432|T->I|0.98|Probably damaging|MGI:1913063|Myoz2|myozenin 2 [Source:MGI Symbol;Acc:MGI:1913063]|Heterozygous|Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy.|G|A|25|38.0|Non-synonymous|Alive
6591948|IGL01417|2|155728978|Y->C|1.0|Probably damaging|MGI:1915540|Edem2|ER degradation enhancer, mannosidase alpha-like 2 [Source:MGI Symbol;Acc:MGI:1915540]|Heterozygous||T|C|20|36.0|Non-synonymous|Alive
6591949|IGL01417|4|139410800|N->S||Unknown|MGI:1916366|Ubr4|ubiquitin protein ligase E3 component n-recognin 4 [Source:MGI Symbol;Acc:MGI:1916366]|Heterozygous||A|G|19|34.0|Non-synonymous|Alive
6591950|IGL01417|4|147869329|C->Stop||N/A|MGI:95595|Fv1|Friend virus susceptibility 1 [Source:MGI Symbol;Acc:MGI:95595]|Heterozygous|NIH Swiss, AKR and C57L are N-tropic virus susceptible and B-tropic resistant (n allele); BALB/c, A and C57BL/6 show opposite susceptibility (b allele); RF, 129, NZB and NZW have increased N-tropic resistance (nr allele); M.m. praetextus and M. spretus are susceptible to N- and B- types (o allele).|T|A|19|37.0|Non-synonymous|Alive
6591951|IGL01417|6|92207119|E->G|0.11|Benign|MGI:1925537|Zfyve20|zinc finger, FYVE domain containing 20 [Source:MGI Symbol;Acc:MGI:1925537]|Heterozygous||T|C|19|38.0|Non-synonymous|Alive
6591952|IGL01417|3|134829546|I->F|0.63|Possibly damaging|MGI:892968|Tacr3|tachykinin receptor 3 [Source:MGI Symbol;Acc:MGI:892968]|Heterozygous||A|T|18|34.5|Non-synonymous|Alive
6591954|IGL01417|6|42472112|H->L||Benign|MGI:3030291|Olfr457|olfactory receptor 457 [Source:MGI Symbol;Acc:MGI:3030291]|Heterozygous||T|A|16|39.5|Non-synonymous|Alive
6591955|IGL01417|6|86525854|H->R|0.71|Possibly damaging|MGI:1345635|Pcbp1|poly(rC) binding protein 1 [Source:MGI Symbol;Acc:MGI:1345635]|Heterozygous||T|C|15|37.0|Non-synonymous|Alive
6591956|IGL01417|8|35384412|E->G|1.0|Probably damaging|MGI:2177268|Ppp1r3b|protein phosphatase 1, regulatory (inhibitor) subunit 3B [Source:MGI Symbol;Acc:MGI:2177268]|Heterozygous|Mice homozygous for a knock-in point mutation exhibit improved glucose tolerance and increased weight loss and serum glucose level in response to a 36 hour fast.|A|G|14|37.0|Non-synonymous|Alive
6591957|IGL01417|3|134829481|W->L|1.0|Probably damaging|MGI:892968|Tacr3|tachykinin receptor 3 [Source:MGI Symbol;Acc:MGI:892968]|Heterozygous||G|T|12|39.0|Non-synonymous|Alive
6591958|IGL01417|17|25567528|D->E|0.72|Possibly damaging|MGI:98370|Sox8|SRY-box containing gene 8 [Source:MGI Symbol;Acc:MGI:98370]|Heterozygous|Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse.|A|C|10|35.0|Non-synonymous|Alive
6591963|IGL01417|13|20251175|Disrupted splicing|||MGI:2153044|Elmo1|engulfment and cell motility 1 [Source:MGI Symbol;Acc:MGI:2153044]|Heterozygous|Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells.|T|C|20|38.0|Splice|Alive
6591964|IGL01417|4|109000830|Disrupted splicing|||MGI:1201386|Nrd1|nardilysin, N-arginine dibasic convertase, NRD convertase 1 [Source:MGI Symbol;Acc:MGI:1201386]|Heterozygous|Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory.|T|C|16|34.0|Splice|Alive
6591965|IGL01417|6|3522377|Disrupted splicing|||MGI:1920538|Ccdc132|coiled-coil domain containing 132 [Source:MGI Symbol;Acc:MGI:1920538]|Heterozygous||T|C|13|38.0|Splice|Alive