Wfs1 - SNV Details



 Human Rare Diseases 
Wolfram syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

 Gene Information 
Gene Name Wfs1
Old Gene Names for Wfs1 Ai481085
Gene Description Wolfram syndrome 1 homolog (human) [Source:MGI Symbol;Acc:MGI:1328355]
MGI phenotype 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.
Uniprot Name
CCDS Name
Gene GO
response to endoplasmic reticulum stress; positive regulation of protein ubiquitination; endoplasmic reticulum calcium ion homeostasis; positive regulation of protein metabolic process; positive regulation of growth; calcium-dependent protein binding; renal water homeostasis; polyubiquitinated misfolded protein transport; regulation of cell cycle; olfactory behavior; ATPase binding; transporter activity; negative regulation of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; neurological system process; ubiquitin protein ligase binding; endoplasmic reticulum; negative regulation of sequence-specific DNA binding transcription factor activity; ER-associated ubiquitin-dependent protein catabolic process; negative regulation of programmed cell death; kidney development; protein stabilization; sensory perception of sound; integral component of endoplasmic reticulum membrane; visual perception; calmodulin binding; activating transcription factor binding; dendrite; calcium ion homeostasis; negative regulation of neuron apoptotic process; negative regulation of type B pancreatic cell apoptotic process; positive regulation of calcium ion transport; glucose homeostasis; positive regulation of proteolysis; endoplasmic reticulum unfolded protein response
Homolog in other species WFS1
Omim http://omim.org/entry/606201
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039474
Chromosome 5
Coordinate 36,967,669     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.47
C:V0.53
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL02814
Median Base Quality 35
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 62 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved