Wdr19 - SNV Details



 Human Rare Diseases 
Juvenile autosomal recessive medullary cystic kidney disease
Cranioectodermal dysplasia
Jeune syndrome

 Gene Information 
Gene Name Wdr19
Old Gene Names for Wdr19 C330027h04rik , D330023l08rik
Gene Description WD repeat domain 19 [Source:MGI Symbol;Acc:MGI:2443231]
Uniprot Name
CCDS Name
Gene GO
photoreceptor connecting cilium; cilium; embryonic camera-type eye development; neurological system process; cell morphogenesis; microtubule basal body; motile cilium; cilium assembly; protein binding; cilium morphogenesis; in utero embryonic development; ciliary receptor clustering involved in smoothened signaling pathway; embryonic limb morphogenesis; myotome development; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; ear morphogenesis; embryonic cranial skeleton morphogenesis; nonmotile primary cilium; smoothened signaling pathway; digestive system development; molecular_function
Homolog in other species WDR19
Omim http://omim.org/entry/608151
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037890
Chromosome 5
Coordinate 65,225,366     (Assembly: GRCm38)    
Ref Base A
Codon Change Att/Gtt
Var Base G
Zygosity Heterozygous
Read Depth 86
Allele Frequency
A:R0.51
G:V0.49
Amino Acid Position 478
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01845
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.06
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000038098:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
WD40-repeat-containing domain WD40_repeat_dom IPR017986 ENSMUSP00000038098 Superfamily 272
542 Description available Search pathways

 Availability Details 
Availability Cryopreserved