|Institutional Source||Beutler Lab|
|Gene Name||wolframin ER transmembrane glycoprotein|
|Is this an essential gene?||Possibly non essential (E-score: 0.419)|
|Stock #||R3779 (G1)|
|Chromosomal Location||36966104-36989205 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 36968624 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 308 (V308L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043964] [ENSMUST00000166339]|
AA Change: V308L
PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
AA Change: V308L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wfs1||
(F):5'- GTGCAGATGACCATGGACAC -3'
(R):5'- CTGTGGAGTATGGGGAACAC -3'
(F):5'- TGACCATGGACACAAAGGAC -3'
(R):5'- ATCTGTTAGGATGAGGCCCAG -3'