Incidental Mutation 'R1759:Wfs1'
ID 195173
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 039791-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R1759 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 37123448-37146326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 37124359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 844 (A844G)
Ref Sequence ENSEMBL: ENSMUSP00000048053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043964] [ENSMUST00000166339]
AlphaFold P56695
Predicted Effect probably damaging
Transcript: ENSMUST00000043964
AA Change: A844G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: A844G

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: A768G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: A768G

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.5%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,272 (GRCm39) M53L possibly damaging Het
Abca5 T C 11: 110,184,674 (GRCm39) D944G probably benign Het
Ankdd1b T C 13: 96,556,211 (GRCm39) Y433C probably damaging Het
Aox3 A G 1: 58,209,805 (GRCm39) probably null Het
Ap1g1 G A 8: 110,559,853 (GRCm39) G260E probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a4 T A 16: 29,275,429 (GRCm39) T352S probably damaging Het
Ccdc33 T A 9: 58,024,729 (GRCm39) N166Y possibly damaging Het
Ces2h T A 8: 105,743,243 (GRCm39) D159E probably damaging Het
Chd1 T A 17: 17,607,533 (GRCm39) D360E probably benign Het
Col16a1 G T 4: 129,978,062 (GRCm39) G781V probably damaging Het
Col6a5 T A 9: 105,808,045 (GRCm39) E1001V unknown Het
Cracdl A T 1: 37,664,791 (GRCm39) I369N probably benign Het
Cyp3a59 T G 5: 146,035,060 (GRCm39) M246R probably benign Het
Dcn T C 10: 97,349,517 (GRCm39) V263A probably benign Het
Dnttip2 A G 3: 122,069,798 (GRCm39) N338D probably benign Het
Entpd1 G T 19: 40,600,968 (GRCm39) probably null Het
Epb41l1 A G 2: 156,363,894 (GRCm39) D801G probably benign Het
Fam186a T A 15: 99,864,762 (GRCm39) K23* probably null Het
Gbe1 T C 16: 70,284,929 (GRCm39) M417T probably benign Het
Gmnc T A 16: 26,784,497 (GRCm39) S3C possibly damaging Het
Gpr156 T C 16: 37,768,583 (GRCm39) S35P probably damaging Het
Grid1 T C 14: 35,167,988 (GRCm39) M504T possibly damaging Het
Gsdma3 T C 11: 98,526,071 (GRCm39) V265A possibly damaging Het
Hsd3b3 A T 3: 98,649,399 (GRCm39) I308N probably damaging Het
Inpp4b A G 8: 82,494,732 (GRCm39) D49G probably benign Het
Ipmk C A 10: 71,217,133 (GRCm39) Q227K probably damaging Het
Kalrn T A 16: 34,181,320 (GRCm39) D88V probably damaging Het
Kansl1l C T 1: 66,841,047 (GRCm39) M84I probably damaging Het
Kcnab2 T G 4: 152,477,509 (GRCm39) K363Q probably damaging Het
Kdm7a C A 6: 39,124,633 (GRCm39) probably null Het
Kiss1r T C 10: 79,757,612 (GRCm39) L322P probably damaging Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lrpprc T C 17: 85,047,509 (GRCm39) K908E probably damaging Het
Mak C A 13: 41,210,110 (GRCm39) W42L probably damaging Het
Map3k21 A G 8: 126,671,519 (GRCm39) T936A probably benign Het
Marchf7 C T 2: 60,064,888 (GRCm39) S388F probably damaging Het
Matcap1 A T 8: 106,012,182 (GRCm39) S88R probably damaging Het
Mgat2 A T 12: 69,232,301 (GRCm39) I292F probably benign Het
Myh3 C A 11: 66,987,717 (GRCm39) R1397S probably damaging Het
Myo5a A G 9: 75,089,275 (GRCm39) D1135G possibly damaging Het
N4bp2 A G 5: 65,983,956 (GRCm39) E1667G probably damaging Het
Nbr1 A G 11: 101,450,369 (GRCm39) T43A probably damaging Het
Nip7 A G 8: 107,784,767 (GRCm39) N124S probably benign Het
Or3a1 G A 11: 74,225,808 (GRCm39) S83F possibly damaging Het
Or51l14 T C 7: 103,101,356 (GRCm39) S271P probably benign Het
Or6c75 T A 10: 129,336,775 (GRCm39) S7R probably benign Het
Or7g25 C T 9: 19,160,384 (GRCm39) V104I probably benign Het
Or8b55 T C 9: 38,727,194 (GRCm39) Y132H probably damaging Het
Otoa T C 7: 120,733,326 (GRCm39) L731P probably damaging Het
Pcnx2 G A 8: 126,500,717 (GRCm39) P1458S probably damaging Het
Pfpl A G 19: 12,407,224 (GRCm39) T492A probably damaging Het
Pgm1 A G 4: 99,824,305 (GRCm39) D326G probably damaging Het
Plekhh1 T A 12: 79,119,535 (GRCm39) Y953N probably damaging Het
Pnkd G A 1: 74,387,922 (GRCm39) A195T probably damaging Het
Ppib C T 9: 65,968,764 (GRCm39) Q51* probably null Het
Ppip5k1 G T 2: 121,181,067 (GRCm39) T13K probably benign Het
Psmg2 A T 18: 67,781,246 (GRCm39) S113C probably benign Het
Rapgef2 A G 3: 78,974,038 (GRCm39) M1584T possibly damaging Het
Rbm12b1 A C 4: 12,145,424 (GRCm39) R465S probably damaging Het
Reln A G 5: 22,215,287 (GRCm39) Y1055H probably damaging Het
Ros1 A T 10: 51,996,922 (GRCm39) I1250K probably damaging Het
Samd9l C A 6: 3,373,401 (GRCm39) V1287F probably damaging Het
Sgce A T 6: 4,689,765 (GRCm39) I356N probably damaging Het
Sh3tc1 C T 5: 35,863,248 (GRCm39) E980K possibly damaging Het
Sil1 T C 18: 35,551,151 (GRCm39) E68G possibly damaging Het
Slc18a1 A G 8: 69,518,237 (GRCm39) I259T possibly damaging Het
Slc6a20b A C 9: 123,438,062 (GRCm39) probably null Het
Smg7 G T 1: 152,724,597 (GRCm39) T536K probably benign Het
Smyd4 A G 11: 75,273,192 (GRCm39) Y84C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorbs2 A T 8: 46,216,056 (GRCm39) *50C probably null Het
Speg A T 1: 75,377,806 (GRCm39) M855L possibly damaging Het
Srrt G T 5: 137,301,212 (GRCm39) H71Q probably damaging Het
St6galnac5 A G 3: 152,552,130 (GRCm39) S146P probably damaging Het
Syne1 T A 10: 5,299,369 (GRCm39) Q962L probably damaging Het
Tiam2 A G 17: 3,566,278 (GRCm39) H1441R probably damaging Het
Tmem45a C T 16: 56,642,765 (GRCm39) M135I probably benign Het
Tpr A T 1: 150,305,275 (GRCm39) E1521D probably benign Het
Uba3 C T 6: 97,173,865 (GRCm39) G107R probably damaging Het
Unc45b G T 11: 82,820,325 (GRCm39) V590F probably benign Het
Vmn1r14 A T 6: 57,211,297 (GRCm39) T292S probably benign Het
Vmn2r102 T A 17: 19,914,755 (GRCm39) N773K probably damaging Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Zfp398 A G 6: 47,836,412 (GRCm39) T71A possibly damaging Het
Zfp507 C A 7: 35,475,403 (GRCm39) A145S probably damaging Het
Zfp971 A T 2: 177,675,722 (GRCm39) E440D probably damaging 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
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
R6666:Wfs1 UTSW 5 37,124,963 (GRCm39) missense possibly damaging 0.94
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'- AGAGAGCCTGGGATCTAACCACAC -3'
(R):5'- GAGGACGACATCACCAAGGACATTG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- ACCAAGGACATTGTTCTCCGTG -3'
Posted On 2014-05-23