Incidental Mutation 'R6666:Wfs1'
ID 526966
Institutional Source Beutler Lab
Gene Symbol Wfs1
Ensembl Gene ENSMUSG00000039474
Gene Name wolframin ER transmembrane glycoprotein
Synonyms wolframin, Wolfram syndrome 1 homolog (human)
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R6666 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 37123448-37146326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37124963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 567 (T567A)
Ref Sequence ENSEMBL: ENSMUSP00000132404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043964] [ENSMUST00000166339]
AlphaFold P56695
Predicted Effect probably benign
Transcript: ENSMUST00000043964
AA Change: T643A

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: T643A

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 possibly damaging
Transcript: ENSMUST00000166339
AA Change: T567A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: T567A

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 probably benign
Transcript: ENSMUST00000167937
SMART Domains Protein: ENSMUSP00000125779
Gene: ENSMUSG00000039474

DomainStartEndE-ValueType
Blast:SEL1 20 58 4e-9 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
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
1700020N01Rik C A 10: 21,469,228 (GRCm39) probably null Het
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cela3a A T 4: 137,131,175 (GRCm39) S188T probably benign Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Foxh1 A G 15: 76,552,613 (GRCm39) F367S probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Ms4a2 C T 19: 11,595,787 (GRCm39) S168N probably benign Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in Wfs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Wfs1 APN 5 37,125,261 (GRCm39) nonsense probably null
IGL01391:Wfs1 APN 5 37,128,907 (GRCm39) missense probably benign 0.10
IGL01788:Wfs1 APN 5 37,125,980 (GRCm39) missense probably benign 0.01
IGL02169:Wfs1 APN 5 37,125,823 (GRCm39) missense probably damaging 0.99
IGL02814:Wfs1 APN 5 37,125,013 (GRCm39) missense possibly damaging 0.88
IGL03294:Wfs1 APN 5 37,132,941 (GRCm39) missense probably damaging 1.00
IGL03299:Wfs1 APN 5 37,125,731 (GRCm39) nonsense probably null
2107:Wfs1 UTSW 5 37,124,617 (GRCm39) missense probably damaging 1.00
R0077:Wfs1 UTSW 5 37,130,538 (GRCm39) missense probably damaging 1.00
R0180:Wfs1 UTSW 5 37,124,372 (GRCm39) missense probably damaging 0.96
R0402:Wfs1 UTSW 5 37,134,324 (GRCm39) unclassified probably benign
R0458:Wfs1 UTSW 5 37,126,013 (GRCm39) missense probably damaging 0.98
R0533:Wfs1 UTSW 5 37,131,066 (GRCm39) splice site probably benign
R0890:Wfs1 UTSW 5 37,132,888 (GRCm39) missense probably damaging 1.00
R0948:Wfs1 UTSW 5 37,124,905 (GRCm39) missense probably damaging 1.00
R1413:Wfs1 UTSW 5 37,139,422 (GRCm39) missense possibly damaging 0.65
R1759:Wfs1 UTSW 5 37,124,359 (GRCm39) missense probably damaging 0.99
R2009:Wfs1 UTSW 5 37,125,653 (GRCm39) missense probably damaging 0.96
R2137:Wfs1 UTSW 5 37,124,845 (GRCm39) missense probably damaging 0.99
R2157:Wfs1 UTSW 5 37,125,286 (GRCm39) missense probably damaging 1.00
R2216:Wfs1 UTSW 5 37,124,564 (GRCm39) nonsense probably null
R3779:Wfs1 UTSW 5 37,125,968 (GRCm39) missense probably benign 0.01
R3850:Wfs1 UTSW 5 37,125,968 (GRCm39) missense probably benign 0.01
R3853:Wfs1 UTSW 5 37,125,968 (GRCm39) missense probably benign 0.01
R3918:Wfs1 UTSW 5 37,125,968 (GRCm39) missense probably benign 0.01
R4093:Wfs1 UTSW 5 37,124,809 (GRCm39) missense probably damaging 0.97
R5056:Wfs1 UTSW 5 37,132,931 (GRCm39) missense probably benign 0.00
R5849:Wfs1 UTSW 5 37,130,608 (GRCm39) missense probably damaging 1.00
R5997:Wfs1 UTSW 5 37,125,094 (GRCm39) missense probably damaging 0.99
R7024:Wfs1 UTSW 5 37,124,294 (GRCm39) missense probably damaging 1.00
R7157:Wfs1 UTSW 5 37,124,516 (GRCm39) missense probably benign 0.00
R7264:Wfs1 UTSW 5 37,125,190 (GRCm39) missense probably damaging 1.00
R7269:Wfs1 UTSW 5 37,125,134 (GRCm39) nonsense probably null
R7365:Wfs1 UTSW 5 37,125,076 (GRCm39) missense probably benign 0.33
R7657:Wfs1 UTSW 5 37,125,578 (GRCm39) missense probably benign 0.01
R8422:Wfs1 UTSW 5 37,131,219 (GRCm39) missense probably benign 0.17
R8427:Wfs1 UTSW 5 37,125,431 (GRCm39) missense probably damaging 1.00
R8446:Wfs1 UTSW 5 37,128,953 (GRCm39) missense probably benign 0.00
R8949:Wfs1 UTSW 5 37,124,287 (GRCm39) missense probably damaging 0.99
R9673:Wfs1 UTSW 5 37,125,113 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCACTGTTGTCGATCTCG -3'
(R):5'- TGCAGTTTGCCCGATGGTTC -3'

Sequencing Primer
(F):5'- GTCACTCGGACATACTTGAAGCG -3'
(R):5'- ATGGTTCCTGTCGCTGGACC -3'
Posted On 2018-07-23