Incidental Mutation 'R5997:Wfs1'
ID 480610
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 044176-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.506) question?
Stock # R5997 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 37123448-37146326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37125094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 599 (I599N)
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: I599N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048053
Gene: ENSMUSG00000039474
AA Change: I599N

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: I523N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132404
Gene: ENSMUSG00000039474
AA Change: I523N

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: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A T 5: 124,227,878 (GRCm39) V121E possibly damaging Het
Acsbg3 A T 17: 57,183,373 (GRCm39) D38V probably benign Het
Adamts20 T A 15: 94,277,628 (GRCm39) Y278F probably damaging Het
Adcy7 A T 8: 89,053,020 (GRCm39) D972V probably benign Het
Adgrf3 C A 5: 30,403,360 (GRCm39) probably null Het
Ahdc1 G T 4: 132,791,206 (GRCm39) G816C probably benign Het
Aifm3 A G 16: 17,319,994 (GRCm39) K283E probably benign Het
Akap6 T C 12: 52,984,016 (GRCm39) probably null Het
Ank1 T C 8: 23,589,678 (GRCm39) L593P probably damaging Het
Apol11b T A 15: 77,519,697 (GRCm39) T128S probably benign Het
C1qtnf7 C A 5: 43,773,427 (GRCm39) T235K probably damaging Het
Camk2a A T 18: 61,111,029 (GRCm39) I73F probably damaging Het
Ccdc121rt3 C T 5: 112,502,874 (GRCm39) V277M possibly damaging Het
Cd109 G T 9: 78,612,344 (GRCm39) V1244F possibly damaging Het
Cep164 A G 9: 45,680,761 (GRCm39) L1240S possibly damaging Het
Cnga1 T A 5: 72,761,918 (GRCm39) D532V probably damaging Het
Cyp4a14 A T 4: 115,353,297 (GRCm39) L5* probably null Het
Cyp4a30b A T 4: 115,316,588 (GRCm39) K405* probably null Het
Dchs1 T C 7: 105,403,302 (GRCm39) D3080G probably benign Het
Ddx1 T C 12: 13,287,800 (GRCm39) D168G probably damaging Het
Dhx57 T G 17: 80,553,235 (GRCm39) K1231Q probably damaging Het
Dnah14 A G 1: 181,597,670 (GRCm39) N3640D probably benign Het
Dock4 T A 12: 40,805,833 (GRCm39) L935Q probably damaging Het
Dus2 A T 8: 106,772,698 (GRCm39) R269S probably benign Het
E230025N22Rik G A 18: 36,822,161 (GRCm39) R201C possibly damaging Het
Erbb3 G A 10: 128,419,054 (GRCm39) T269M probably damaging Het
Fbxo43 T C 15: 36,162,239 (GRCm39) R323G probably damaging Het
Fktn A G 4: 53,735,061 (GRCm39) H233R probably benign Het
Ftsj3 A T 11: 106,143,077 (GRCm39) D412E probably damaging Het
Fzd7 A T 1: 59,523,703 (GRCm39) M529L probably benign Het
Fzr1 T A 10: 81,206,660 (GRCm39) probably null Het
Ganc T G 2: 120,261,086 (GRCm39) V257G possibly damaging Het
Garin1a T A 6: 29,290,423 (GRCm39) L267* probably null Het
Gm4131 T C 14: 62,702,207 (GRCm39) K254E probably damaging Het
Gm7347 G T 5: 26,262,247 (GRCm39) Y91* probably null Het
Gm9857 G A 3: 108,847,481 (GRCm39) probably benign Het
Grpel1 T C 5: 36,622,592 (GRCm39) S19P probably benign Het
Gtf3c4 T C 2: 28,723,723 (GRCm39) K670E possibly damaging Het
H2bc7 G A 13: 23,758,277 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,579,924 (GRCm39) Q1938K possibly damaging Het
Hnrnpk T C 13: 58,546,971 (GRCm39) D71G probably damaging Het
Hspa4l G A 3: 40,722,411 (GRCm39) R311H probably damaging Het
Igkv3-5 T A 6: 70,640,688 (GRCm39) F56L probably benign Het
Igkv6-20 T A 6: 70,312,898 (GRCm39) T92S possibly damaging Het
Krt8 C T 15: 101,909,029 (GRCm39) V200I possibly damaging Het
Lamb2 A T 9: 108,357,587 (GRCm39) T66S possibly damaging Het
Lamp3 A G 16: 19,519,778 (GRCm39) L135S probably benign Het
Lrguk A G 6: 34,106,078 (GRCm39) Y701C probably damaging Het
Mcc G T 18: 44,582,388 (GRCm39) L588M probably damaging Het
Mcidas T A 13: 113,135,120 (GRCm39) L234Q probably damaging Het
Mtmr14 T A 6: 113,257,575 (GRCm39) L208Q probably damaging Het
Myof A G 19: 37,893,747 (GRCm39) F1139L possibly damaging Het
Nlrp14 C A 7: 106,781,703 (GRCm39) T300K probably benign Het
Or2d36 A T 7: 106,746,535 (GRCm39) E4V possibly damaging Het
Or2m13 T A 16: 19,226,694 (GRCm39) H24L probably benign Het
Or5b118 A G 19: 13,448,870 (GRCm39) I179V probably benign Het
Or8b41 A T 9: 38,055,097 (GRCm39) Y217F probably damaging Het
Orc2 A G 1: 58,511,547 (GRCm39) I354T probably damaging Het
Pard3b G T 1: 62,115,568 (GRCm39) S140I probably damaging Het
Pcgf5 A G 19: 36,412,003 (GRCm39) D49G probably benign Het
Pcsk6 T C 7: 65,609,041 (GRCm39) F388S probably damaging Het
Prokr2 A C 2: 132,223,362 (GRCm39) I60S probably damaging Het
Rab33b A G 3: 51,391,900 (GRCm39) T50A possibly damaging Het
Rbms3 T C 9: 116,548,457 (GRCm39) D61G probably damaging Het
Rhcg T A 7: 79,250,262 (GRCm39) K274* probably null Het
Rnf112 C T 11: 61,341,848 (GRCm39) V319M possibly damaging Het
Rnf44 A T 13: 54,830,613 (GRCm39) S265T possibly damaging Het
Sf3a3 A G 4: 124,615,851 (GRCm39) D168G probably damaging Het
Sik2 A G 9: 50,806,642 (GRCm39) probably null Het
Slco1a5 T A 6: 142,198,839 (GRCm39) L275F probably benign Het
Smtnl1 T C 2: 84,645,722 (GRCm39) H383R probably damaging Het
Spns3 T G 11: 72,429,904 (GRCm39) T175P probably damaging Het
Togaram1 A G 12: 65,042,312 (GRCm39) T1174A probably benign Het
Tradd C T 8: 105,987,277 (GRCm39) E10K possibly damaging Het
Ttc7b A T 12: 100,339,819 (GRCm39) Y579N probably damaging Het
Uncx G A 5: 139,533,344 (GRCm39) G470R probably damaging Het
Vav3 T A 3: 109,408,777 (GRCm39) M177K probably damaging Het
Zfp454 G A 11: 50,764,449 (GRCm39) H217Y 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
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
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'- AAGCCATATTGCTGCCAGGTG -3'
(R):5'- TCATGTGGTGTGAACTGTCC -3'

Sequencing Primer
(F):5'- CATGCCTTCTGAGCGGTACAC -3'
(R):5'- GAACTGTCCGTGGTCATCCTG -3'
Posted On 2017-06-26