Incidental Mutation 'IGL00966:Jak3'
ID 28065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jak3
Ensembl Gene ENSMUSG00000031805
Gene Name Janus kinase 3
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # IGL00966
Quality Score
Status
Chromosome 8
Chromosomal Location 72129027-72143221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72131656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 115 (C115S)
Ref Sequence ENSEMBL: ENSMUSP00000105640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051995
AA Change: C115S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: C115S

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110012
AA Change: C115S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: C115S

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110013
AA Change: C115S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: C115S

DomainStartEndE-ValueType
B41 20 254 2.2e-42 SMART
SH2 370 460 5.57e-8 SMART
low complexity region 488 503 N/A INTRINSIC
STYKc 517 773 3.58e-12 SMART
TyrKc 818 1091 4.59e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133263
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired B cell development, small thymi and T cell proliferate. Point mutation homozygotes develop autoimmune inflammatory bowel disease, decreased susceptibility to malaria infection and/or increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Jak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Jak3 APN 8 72,134,341 (GRCm39) splice site probably benign
IGL00720:Jak3 APN 8 72,136,681 (GRCm39) missense probably damaging 1.00
IGL01147:Jak3 APN 8 72,136,047 (GRCm39) missense probably benign
IGL01308:Jak3 APN 8 72,137,810 (GRCm39) missense probably damaging 1.00
IGL01328:Jak3 APN 8 72,132,264 (GRCm39) missense probably damaging 1.00
IGL01386:Jak3 APN 8 72,136,933 (GRCm39) missense probably damaging 1.00
IGL01515:Jak3 APN 8 72,133,206 (GRCm39) splice site probably null
IGL01870:Jak3 APN 8 72,133,434 (GRCm39) missense probably damaging 1.00
IGL02132:Jak3 APN 8 72,131,124 (GRCm39) missense probably damaging 0.99
IGL02413:Jak3 APN 8 72,138,763 (GRCm39) splice site probably null
IGL02752:Jak3 APN 8 72,135,595 (GRCm39) missense possibly damaging 0.50
IGL03089:Jak3 APN 8 72,138,727 (GRCm39) missense probably benign 0.15
IGL03177:Jak3 APN 8 72,135,014 (GRCm39) missense probably damaging 1.00
barbed UTSW 8 72,131,425 (GRCm39) missense possibly damaging 0.88
beanstalk UTSW 8 72,139,932 (GRCm39) missense probably benign 0.01
Bonis UTSW 8 72,131,898 (GRCm39) missense probably benign 0.05
citron UTSW 8 72,139,620 (GRCm39) splice site probably benign
corrupt UTSW 8 72,136,696 (GRCm39) missense probably damaging 1.00
daniels UTSW 8 72,134,299 (GRCm39) missense possibly damaging 0.48
Deposuit UTSW 8 72,138,048 (GRCm39) missense probably damaging 1.00
distortion UTSW 8 72,136,622 (GRCm39) missense probably damaging 1.00
Downcast UTSW 8 72,138,155 (GRCm39) missense probably benign 0.07
fake_news UTSW 8 72,138,601 (GRCm39) missense probably damaging 1.00
Implevit UTSW 8 72,131,417 (GRCm39) missense probably benign
mount_tai UTSW 8 72,136,021 (GRCm39) missense probably damaging 1.00
potentes UTSW 8 72,138,702 (GRCm39) missense probably damaging 0.99
Riot UTSW 8 72,134,960 (GRCm39) missense probably damaging 1.00
thistle UTSW 8 72,138,027 (GRCm39) critical splice acceptor site probably null
thistle2 UTSW 8 72,138,189 (GRCm39) missense probably damaging 1.00
PIT4403001:Jak3 UTSW 8 72,136,993 (GRCm39) missense probably benign 0.00
PIT4515001:Jak3 UTSW 8 72,132,286 (GRCm39) missense probably benign 0.21
R0013:Jak3 UTSW 8 72,136,971 (GRCm39) missense probably damaging 0.98
R0496:Jak3 UTSW 8 72,135,041 (GRCm39) missense probably damaging 1.00
R0522:Jak3 UTSW 8 72,134,918 (GRCm39) splice site probably benign
R0531:Jak3 UTSW 8 72,139,620 (GRCm39) splice site probably benign
R0538:Jak3 UTSW 8 72,138,126 (GRCm39) missense probably benign
R0612:Jak3 UTSW 8 72,136,021 (GRCm39) missense probably damaging 1.00
R0744:Jak3 UTSW 8 72,136,622 (GRCm39) missense probably damaging 1.00
R0833:Jak3 UTSW 8 72,136,622 (GRCm39) missense probably damaging 1.00
R0836:Jak3 UTSW 8 72,136,622 (GRCm39) missense probably damaging 1.00
R1183:Jak3 UTSW 8 72,137,194 (GRCm39) missense probably damaging 1.00
R1420:Jak3 UTSW 8 72,134,182 (GRCm39) missense possibly damaging 0.75
R1793:Jak3 UTSW 8 72,138,590 (GRCm39) splice site probably benign
R1967:Jak3 UTSW 8 72,134,179 (GRCm39) missense probably damaging 1.00
R1983:Jak3 UTSW 8 72,140,780 (GRCm39) missense probably benign
R1983:Jak3 UTSW 8 72,131,019 (GRCm39) missense possibly damaging 0.95
R2058:Jak3 UTSW 8 72,138,027 (GRCm39) critical splice acceptor site probably null
R2060:Jak3 UTSW 8 72,136,059 (GRCm39) nonsense probably null
R2060:Jak3 UTSW 8 72,133,358 (GRCm39) nonsense probably null
R3705:Jak3 UTSW 8 72,134,166 (GRCm39) missense probably damaging 1.00
R3734:Jak3 UTSW 8 72,129,225 (GRCm39) unclassified probably benign
R4231:Jak3 UTSW 8 72,138,189 (GRCm39) missense probably damaging 1.00
R4596:Jak3 UTSW 8 72,137,275 (GRCm39) missense probably damaging 0.99
R4844:Jak3 UTSW 8 72,134,299 (GRCm39) missense possibly damaging 0.48
R4897:Jak3 UTSW 8 72,138,048 (GRCm39) missense probably damaging 1.00
R5038:Jak3 UTSW 8 72,138,702 (GRCm39) missense probably damaging 0.99
R5469:Jak3 UTSW 8 72,131,417 (GRCm39) missense probably benign
R5538:Jak3 UTSW 8 72,131,417 (GRCm39) missense probably benign
R5718:Jak3 UTSW 8 72,136,998 (GRCm39) missense probably damaging 1.00
R5799:Jak3 UTSW 8 72,131,344 (GRCm39) missense probably damaging 1.00
R5909:Jak3 UTSW 8 72,136,875 (GRCm39) missense possibly damaging 0.68
R5959:Jak3 UTSW 8 72,134,715 (GRCm39) missense probably damaging 1.00
R6260:Jak3 UTSW 8 72,131,954 (GRCm39) missense probably benign 0.00
R6798:Jak3 UTSW 8 72,133,615 (GRCm39) missense probably damaging 0.99
R7013:Jak3 UTSW 8 72,131,425 (GRCm39) missense possibly damaging 0.88
R7070:Jak3 UTSW 8 72,137,255 (GRCm39) missense probably damaging 1.00
R7122:Jak3 UTSW 8 72,138,601 (GRCm39) missense probably damaging 1.00
R7166:Jak3 UTSW 8 72,134,960 (GRCm39) missense probably damaging 1.00
R7225:Jak3 UTSW 8 72,138,155 (GRCm39) missense probably benign 0.07
R7440:Jak3 UTSW 8 72,133,362 (GRCm39) missense probably benign 0.02
R7489:Jak3 UTSW 8 72,136,936 (GRCm39) missense probably damaging 1.00
R7773:Jak3 UTSW 8 72,131,686 (GRCm39) missense probably benign
R7779:Jak3 UTSW 8 72,139,932 (GRCm39) missense probably benign 0.01
R8511:Jak3 UTSW 8 72,138,194 (GRCm39) missense probably damaging 1.00
R8808:Jak3 UTSW 8 72,138,164 (GRCm39) missense possibly damaging 0.71
R8859:Jak3 UTSW 8 72,131,160 (GRCm39) missense probably benign 0.37
R9079:Jak3 UTSW 8 72,131,898 (GRCm39) missense probably benign 0.05
R9320:Jak3 UTSW 8 72,134,265 (GRCm39) missense probably benign 0.03
R9389:Jak3 UTSW 8 72,136,696 (GRCm39) missense probably damaging 1.00
R9664:Jak3 UTSW 8 72,131,366 (GRCm39) missense probably damaging 1.00
Z1176:Jak3 UTSW 8 72,133,327 (GRCm39) missense possibly damaging 0.93
Posted On 2013-04-17