Incidental Mutation 'IGL03294:Wfs1'
ID416023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wfs1
Ensembl Gene ENSMUSG00000039474
Gene Namewolframin ER transmembrane glycoprotein
Synonymswolframin
Accession Numbers

Genbank: NM_011716; MGI: 1328355

Is this an essential gene? Possibly non essential (E-score: 0.481) question?
Stock #IGL03294
Quality Score
Status
Chromosome5
Chromosomal Location36966104-36989205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36975597 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 113 (R113C)
Ref Sequence ENSEMBL: ENSMUSP00000132404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043964] [ENSMUST00000166339]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043964
AA Change: R113C

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: R113C

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
low complexity region 50 67 N/A INTRINSIC
Blast:SEL1 101 139 1e-8 BLAST
low complexity region 268 275 N/A INTRINSIC
transmembrane domain 313 335 N/A INTRINSIC
transmembrane domain 342 364 N/A INTRINSIC
transmembrane domain 407 424 N/A INTRINSIC
transmembrane domain 431 453 N/A INTRINSIC
transmembrane domain 495 517 N/A INTRINSIC
transmembrane domain 529 551 N/A INTRINSIC
transmembrane domain 561 583 N/A INTRINSIC
transmembrane domain 590 612 N/A INTRINSIC
transmembrane domain 632 654 N/A INTRINSIC
low complexity region 877 886 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166339
AA Change: R113C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: R113C

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
low complexity region 50 67 N/A INTRINSIC
Blast:SEL1 101 139 3e-8 BLAST
low complexity region 268 275 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
transmembrane domain 453 475 N/A INTRINSIC
transmembrane domain 485 507 N/A INTRINSIC
transmembrane domain 514 536 N/A INTRINSIC
transmembrane domain 556 578 N/A INTRINSIC
low complexity region 801 810 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000167937
AA Change: R31C
SMART Domains Protein: ENSMUSP00000125779
Gene: ENSMUSG00000039474
AA Change: R31C

DomainStartEndE-ValueType
Blast:SEL1 20 58 4e-9 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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

All alleles(5) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(1)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,958,438 M119L probably benign Het
Akap10 A T 11: 61,877,353 V646D probably damaging Het
Aldh3a1 A G 11: 61,214,722 Y218C probably damaging Het
Arfgef3 T A 10: 18,664,912 L174F probably damaging Het
Arhgef6 T C X: 57,336,978 K99E possibly damaging Het
Atp9a T C 2: 168,689,305 K163E probably benign Het
Birc6 C T 17: 74,649,886 A3605V probably benign Het
C8b G A 4: 104,780,691 R120Q probably benign Het
Ccr1l1 A C 9: 123,978,407 M1R probably null Het
Clca2 A G 3: 145,097,769 S105P probably damaging Het
Cntnap1 A G 11: 101,181,682 T502A possibly damaging Het
Ddx10 C T 9: 53,117,152 probably null Het
Dnah5 G A 15: 28,233,295 probably null Het
Dock9 A T 14: 121,641,623 probably benign Het
Gli2 A G 1: 118,837,436 V995A probably benign Het
Gpr34 T C X: 13,639,549 Y106H probably damaging Het
Kmt2a A T 9: 44,820,565 probably benign Het
Lamc1 C A 1: 153,262,646 R154L probably damaging Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Meioc A T 11: 102,680,669 E943V probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Nav2 C T 7: 49,491,457 R917* probably null Het
Olfr1317 T C 2: 112,142,173 I76T probably benign Het
Olfr850 T C 9: 19,477,989 N87S possibly damaging Het
Pcsk9 T A 4: 106,446,770 I506L probably benign Het
Phf14 T A 6: 11,953,367 D368E probably damaging Het
Phka1 C A X: 102,537,213 S964I probably damaging Het
Pikfyve G A 1: 65,247,067 R1155Q probably damaging Het
Plin2 C T 4: 86,662,078 V60M probably damaging Het
Ptpn9 A G 9: 57,027,387 Q145R possibly damaging Het
Sap30 A G 8: 57,487,301 I89T probably damaging Het
Sec61a2 T C 2: 5,876,465 probably null Het
Slc34a2 A C 5: 53,063,998 D262A probably benign Het
Slc6a3 G A 13: 73,557,181 probably null Het
Slfn4 A T 11: 83,186,574 T63S probably benign Het
Tbx10 A T 19: 3,998,571 probably benign Het
Tie1 A T 4: 118,480,223 N501K probably damaging Het
Tmprss11f A T 5: 86,538,107 Y134N probably damaging Het
Uevld A T 7: 46,931,030 D361E possibly damaging Het
Ugt1a5 A C 1: 88,166,815 D255A probably damaging Het
Vmn2r11 A G 5: 109,054,069 F190L probably benign Het
Yipf5 T G 18: 40,206,396 M206L probably benign Het
Zbtb10 A G 3: 9,280,987 D847G probably benign Het
Zfp786 T A 6: 47,821,324 K227* probably null Het
Other mutations in Wfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Wfs1 APN 5 36967917 nonsense probably null
IGL01391:Wfs1 APN 5 36971563 missense probably benign 0.10
IGL01788:Wfs1 APN 5 36968636 missense probably benign 0.01
IGL02169:Wfs1 APN 5 36968479 missense probably damaging 0.99
IGL02814:Wfs1 APN 5 36967669 missense possibly damaging 0.88
IGL03299:Wfs1 APN 5 36968387 nonsense probably null
2107:Wfs1 UTSW 5 36967273 missense probably damaging 1.00
R0077:Wfs1 UTSW 5 36973194 missense probably damaging 1.00
R0180:Wfs1 UTSW 5 36967028 missense probably damaging 0.96
R0402:Wfs1 UTSW 5 36976980 unclassified probably benign
R0458:Wfs1 UTSW 5 36968669 missense probably damaging 0.98
R0533:Wfs1 UTSW 5 36973722 splice site probably benign
R0890:Wfs1 UTSW 5 36975544 missense probably damaging 1.00
R0948:Wfs1 UTSW 5 36967561 missense probably damaging 1.00
R1413:Wfs1 UTSW 5 36982078 missense possibly damaging 0.65
R1759:Wfs1 UTSW 5 36967015 missense probably damaging 0.99
R2009:Wfs1 UTSW 5 36968309 missense probably damaging 0.96
R2137:Wfs1 UTSW 5 36967501 missense probably damaging 0.99
R2157:Wfs1 UTSW 5 36967942 missense probably damaging 1.00
R2216:Wfs1 UTSW 5 36967220 nonsense probably null
R3779:Wfs1 UTSW 5 36968624 missense probably benign 0.01
R3850:Wfs1 UTSW 5 36968624 missense probably benign 0.01
R3853:Wfs1 UTSW 5 36968624 missense probably benign 0.01
R3918:Wfs1 UTSW 5 36968624 missense probably benign 0.01
R4093:Wfs1 UTSW 5 36967465 missense probably damaging 0.97
R5056:Wfs1 UTSW 5 36975587 missense probably benign 0.00
R5849:Wfs1 UTSW 5 36973264 missense probably damaging 1.00
R5997:Wfs1 UTSW 5 36967750 missense probably damaging 0.99
R6666:Wfs1 UTSW 5 36967619 missense possibly damaging 0.94
R7024:Wfs1 UTSW 5 36966950 missense probably damaging 1.00
R7157:Wfs1 UTSW 5 36967172 missense probably benign 0.00
R7264:Wfs1 UTSW 5 36967846 missense probably damaging 1.00
R7269:Wfs1 UTSW 5 36967790 nonsense probably null
R7365:Wfs1 UTSW 5 36967732 missense probably benign 0.33
R7657:Wfs1 UTSW 5 36968234 missense probably benign 0.01
Posted On2016-08-02