Dnah12 - SNV Details



 Gene Information 
Gene Name Dnah12
Old Gene Names for Dnah12 Bc051401 , Dnahc3 , 4921531p07rik , Dnahc12 , Dnahc3 , Dnahc7l , Gm284 , Gm907
Gene Description dynein, axonemal, heavy chain 3 [Source:MGI Symbol;Acc:MGI:2683040]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; cytoplasm; microtubule-based movement; microtubule; microtubule motor activity; nucleoside-triphosphatase activity; cellular_component; nucleotide binding; ATP binding; cilium axoneme; biological_process; dynein complex; molecular_function
Homolog in other species DNAH3
Omim http://omim.org/entry/603340
Immgen Expression
LOW
LOW
LOW
LOW
LOW
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN
MEDIAN
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
LOW
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052273
Chromosome 7
Coordinate 120,022,941     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Gtt
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.64
C:V0.36
Amino Acid Position 1529
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01329
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000042857:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000042857 Superfamily 1373
1583 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating