Incidental Mutation 'IGL01328:Jak3'
ID74390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jak3
Ensembl Gene ENSMUSG00000031805
Gene NameJanus kinase 3
Synonymsfae; wil
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.725) question?
Stock #IGL01328
Quality Score
Status
Chromosome8
Chromosomal Location71676296-71690575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 71679620 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 210 (R210C)
Ref Sequence ENSEMBL: ENSMUSP00000105640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]
Predicted Effect probably damaging
Transcript: ENSMUST00000051995
AA Change: R210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: R210C

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 damaging
Transcript: ENSMUST00000110012
AA Change: R210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: R210C

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 damaging
Transcript: ENSMUST00000110013
AA Change: R210C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: R210C

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 C T 18: 59,048,882 S1131F possibly damaging Het
Alg14 G A 3: 121,361,583 V151I probably benign Het
Ano5 G A 7: 51,556,271 probably null Het
Arhgef28 A T 13: 97,970,323 C698S probably damaging Het
Cacnb4 T C 2: 52,464,625 H247R probably damaging Het
Clec12b A T 6: 129,379,554 W216R probably damaging Het
Clnk C T 5: 38,784,528 S35N possibly damaging Het
Cnot4 T A 6: 35,078,114 N80I probably damaging Het
Cntn5 C T 9: 9,781,768 M635I probably damaging Het
Dlg5 A G 14: 24,202,351 V107A probably damaging Het
Dsc2 A T 18: 20,048,286 F155I probably damaging Het
Dtwd1 A G 2: 126,164,819 I254V probably damaging Het
Dzip3 A T 16: 48,972,258 D221E probably damaging Het
F13b T A 1: 139,508,082 probably benign Het
Fam131b G A 6: 42,318,272 L324F probably damaging Het
Fam83a A T 15: 57,986,505 R148S probably damaging Het
Farsb T C 1: 78,471,092 I236V probably benign Het
Fat4 T A 3: 38,980,658 F2820I probably damaging Het
Fat4 T A 3: 38,889,991 V1011E probably damaging Het
Fgf7 A G 2: 126,088,244 E99G probably damaging Het
Fign T C 2: 63,978,872 T685A probably damaging Het
Fubp1 G A 3: 152,220,218 G289E probably damaging Het
Gata6 G T 18: 11,064,530 M477I probably damaging Het
Gm14496 A G 2: 181,995,880 Y249C probably damaging Het
Hectd1 T C 12: 51,761,121 D1768G probably damaging Het
Htatip2 T A 7: 49,770,949 probably null Het
Irs2 C A 8: 11,004,792 Q1213H probably damaging Het
Klk1b27 T C 7: 44,055,879 S157P probably damaging Het
Klri1 T C 6: 129,698,837 S157G probably damaging Het
Mtmr2 G T 9: 13,801,927 G395* probably null Het
Mx1 T A 16: 97,455,632 I116F probably damaging Het
Oip5 A C 2: 119,611,833 M200R possibly damaging Het
Olfr1118 T A 2: 87,309,581 L284Q possibly damaging Het
Olfr1285 A G 2: 111,409,219 Y268C probably damaging Het
Olfr1512 T C 14: 52,372,510 D181G probably damaging Het
Olfr32 T C 2: 90,139,074 K22E probably benign Het
Pamr1 T A 2: 102,642,137 S594T probably benign Het
Phf13 C T 4: 151,995,828 E13K probably benign Het
Plekha6 A T 1: 133,272,336 probably null Het
Rad17 A C 13: 100,617,803 N636K probably benign Het
Rad21 T A 15: 51,973,124 D217V probably damaging Het
Slc7a10 A G 7: 35,186,492 D4G possibly damaging Het
Stc1 A G 14: 69,038,277 D173G probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tex15 C T 8: 33,571,396 Q559* probably null Het
Trim44 T A 2: 102,400,020 E222V probably benign Het
Ubr5 T C 15: 37,981,523 E2343G possibly damaging Het
Vmn2r86 T C 10: 130,452,496 T379A possibly damaging Het
Vmn2r93 A G 17: 18,325,557 T564A probably benign Het
Vsir C A 10: 60,367,760 probably benign Het
Vwc2l T A 1: 70,729,004 probably null Het
Xrn2 T C 2: 147,029,930 V396A possibly damaging Het
Zbbx T A 3: 75,093,075 K208* probably null Het
Zfhx4 C A 3: 5,244,284 L857M probably damaging Het
Zfp180 A G 7: 24,101,479 D53G probably benign Het
Other mutations in Jak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Jak3 APN 8 71681697 splice site probably benign
IGL00720:Jak3 APN 8 71684037 missense probably damaging 1.00
IGL00966:Jak3 APN 8 71679012 missense probably benign 0.24
IGL01147:Jak3 APN 8 71683403 missense probably benign
IGL01308:Jak3 APN 8 71685166 missense probably damaging 1.00
IGL01386:Jak3 APN 8 71684289 missense probably damaging 1.00
IGL01515:Jak3 APN 8 71680562 splice site probably null
IGL01870:Jak3 APN 8 71680790 missense probably damaging 1.00
IGL02132:Jak3 APN 8 71678480 missense probably damaging 0.99
IGL02413:Jak3 APN 8 71686119 unclassified probably null
IGL02752:Jak3 APN 8 71682951 missense possibly damaging 0.50
IGL03089:Jak3 APN 8 71686083 missense probably benign 0.15
IGL03177:Jak3 APN 8 71682370 missense probably damaging 1.00
citron UTSW 8 71686976 splice site probably benign
daniels UTSW 8 71681655 missense possibly damaging 0.48
Deposuit UTSW 8 71685404 missense probably damaging 1.00
distortion UTSW 8 71683978 missense probably damaging 1.00
fake_news UTSW 8 71685957 missense probably damaging 1.00
Implevit UTSW 8 71678773 missense probably benign
mount_tai UTSW 8 71683377 missense probably damaging 1.00
potentes UTSW 8 71686058 missense probably damaging 0.99
thistle UTSW 8 71685383 critical splice acceptor site probably null
thistle2 UTSW 8 71685545 missense probably damaging 1.00
PIT4403001:Jak3 UTSW 8 71684349 missense probably benign 0.00
PIT4515001:Jak3 UTSW 8 71679642 missense probably benign 0.21
R0013:Jak3 UTSW 8 71684327 missense probably damaging 0.98
R0496:Jak3 UTSW 8 71682397 missense probably damaging 1.00
R0522:Jak3 UTSW 8 71682274 splice site probably benign
R0531:Jak3 UTSW 8 71686976 splice site probably benign
R0538:Jak3 UTSW 8 71685482 missense probably benign
R0612:Jak3 UTSW 8 71683377 missense probably damaging 1.00
R0744:Jak3 UTSW 8 71683978 missense probably damaging 1.00
R0833:Jak3 UTSW 8 71683978 missense probably damaging 1.00
R0836:Jak3 UTSW 8 71683978 missense probably damaging 1.00
R1183:Jak3 UTSW 8 71684550 missense probably damaging 1.00
R1420:Jak3 UTSW 8 71681538 missense possibly damaging 0.75
R1793:Jak3 UTSW 8 71685946 splice site probably benign
R1967:Jak3 UTSW 8 71681535 missense probably damaging 1.00
R1983:Jak3 UTSW 8 71678375 missense possibly damaging 0.95
R1983:Jak3 UTSW 8 71688136 missense probably benign
R2058:Jak3 UTSW 8 71685383 critical splice acceptor site probably null
R2060:Jak3 UTSW 8 71680714 nonsense probably null
R2060:Jak3 UTSW 8 71683415 nonsense probably null
R3705:Jak3 UTSW 8 71681522 missense probably damaging 1.00
R3734:Jak3 UTSW 8 71676581 unclassified probably benign
R4231:Jak3 UTSW 8 71685545 missense probably damaging 1.00
R4596:Jak3 UTSW 8 71684631 missense probably damaging 0.99
R4844:Jak3 UTSW 8 71681655 missense possibly damaging 0.48
R4897:Jak3 UTSW 8 71685404 missense probably damaging 1.00
R5038:Jak3 UTSW 8 71686058 missense probably damaging 0.99
R5469:Jak3 UTSW 8 71678773 missense probably benign
R5538:Jak3 UTSW 8 71678773 missense probably benign
R5718:Jak3 UTSW 8 71684354 missense probably damaging 1.00
R5799:Jak3 UTSW 8 71678700 missense probably damaging 1.00
R5909:Jak3 UTSW 8 71684231 missense possibly damaging 0.68
R5959:Jak3 UTSW 8 71682071 missense probably damaging 1.00
R6260:Jak3 UTSW 8 71679310 missense probably benign 0.00
R6798:Jak3 UTSW 8 71680971 missense probably damaging 0.99
R7013:Jak3 UTSW 8 71678781 missense possibly damaging 0.88
R7070:Jak3 UTSW 8 71684611 missense probably damaging 1.00
R7122:Jak3 UTSW 8 71685957 missense probably damaging 1.00
R7166:Jak3 UTSW 8 71682316 missense probably damaging 1.00
R7225:Jak3 UTSW 8 71685511 missense probably benign 0.07
R7440:Jak3 UTSW 8 71680718 missense probably benign 0.02
R7489:Jak3 UTSW 8 71684292 missense probably damaging 1.00
Posted On2013-10-07