Incidental Mutation 'R1967:Jak3'
ID 219067
Institutional Source Beutler Lab
Gene Symbol Jak3
Ensembl Gene ENSMUSG00000031805
Gene Name Janus kinase 3
Synonyms
MMRRC Submission 039980-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R1967 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72129027-72143221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72134179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 427 (I427N)
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 damaging
Transcript: ENSMUST00000051995
AA Change: I427N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: I427N

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: I427N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: I427N

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: I427N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: I427N

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik A C 15: 37,439,842 (GRCm39) probably benign Het
Abca6 T C 11: 110,077,974 (GRCm39) I1278V probably benign Het
Adamts15 C T 9: 30,832,605 (GRCm39) W310* probably null Het
Adamts6 T A 13: 104,563,459 (GRCm39) C650* probably null Het
Akap3 G T 6: 126,842,061 (GRCm39) G227C probably benign Het
Alox12e A T 11: 70,208,682 (GRCm39) S457T probably benign Het
Angpt1 C A 15: 42,301,703 (GRCm39) C435F probably damaging Het
Anxa9 T C 3: 95,207,919 (GRCm39) Q207R probably benign Het
Aplnr A T 2: 84,967,950 (GRCm39) D325V probably benign Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atp13a4 A G 16: 29,298,672 (GRCm39) S96P probably damaging Het
Bnc1 A T 7: 81,623,384 (GRCm39) H614Q probably benign Het
C6 A G 15: 4,789,302 (GRCm39) D249G probably damaging Het
Camta1 A T 4: 151,173,430 (GRCm39) F977I probably damaging Het
Chil6 T C 3: 106,298,470 (GRCm39) S188G possibly damaging Het
Cntrob A T 11: 69,211,789 (GRCm39) L145Q probably damaging Het
Coro7 T C 16: 4,452,753 (GRCm39) E306G probably damaging Het
Cplane1 T G 15: 8,232,904 (GRCm39) V1141G probably benign Het
Cpq T C 15: 33,497,348 (GRCm39) S363P possibly damaging Het
Ctc1 A G 11: 68,918,688 (GRCm39) probably null Het
Defb43 T A 14: 63,255,246 (GRCm39) N26K probably benign Het
Dennd1a T C 2: 37,734,845 (GRCm39) T41A probably benign Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Eml6 A G 11: 29,974,545 (GRCm39) L11P probably damaging Het
Epha5 A G 5: 84,564,288 (GRCm39) V26A probably benign Het
Fam13c A G 10: 70,387,565 (GRCm39) D443G probably damaging Het
Fam227a G A 15: 79,521,335 (GRCm39) L243F possibly damaging Het
Fat3 T G 9: 15,879,591 (GRCm39) R3301S probably benign Het
Fbxw20 T C 9: 109,046,578 (GRCm39) T461A probably benign Het
Fgf8 T A 19: 45,730,007 (GRCm39) S61C probably damaging Het
Fgfrl1 A G 5: 108,852,871 (GRCm39) E100G probably damaging Het
Gabra4 G A 5: 71,729,412 (GRCm39) S456F possibly damaging Het
Gas6 T C 8: 13,520,317 (GRCm39) E457G probably damaging Het
Gpr33 G A 12: 52,070,991 (GRCm39) S16L probably benign Het
Greb1l A C 18: 10,501,049 (GRCm39) N393T possibly damaging Het
Gtpbp4 T C 13: 9,027,340 (GRCm39) K492E probably benign Het
Hsf2bp A T 17: 32,206,378 (GRCm39) L251* probably null Het
Hyal5 A T 6: 24,876,193 (GRCm39) Q22L possibly damaging Het
Itih1 A T 14: 30,663,941 (GRCm39) V114E possibly damaging Het
Jcad T C 18: 4,675,162 (GRCm39) S975P probably benign Het
Kcng4 A G 8: 120,359,662 (GRCm39) V238A probably damaging Het
Klb A G 5: 65,529,417 (GRCm39) D315G probably damaging Het
Klrh1 A T 6: 129,752,798 (GRCm39) N2K possibly damaging Het
Krt5 T C 15: 101,620,094 (GRCm39) N208D probably benign Het
Lmo7 T A 14: 102,137,651 (GRCm39) H551Q probably benign Het
Lrp8 G T 4: 107,717,168 (GRCm39) G732V probably damaging Het
Lrrc38 A G 4: 143,096,553 (GRCm39) D288G unknown Het
Lrrc4b GAGAAG GAG 7: 44,111,654 (GRCm39) probably benign Het
Mas1 A G 17: 13,060,923 (GRCm39) Y167H probably benign Het
Mcm8 A C 2: 132,684,662 (GRCm39) I759L probably benign Het
Med13l G A 5: 118,899,387 (GRCm39) D2148N probably damaging Het
Muc20 A T 16: 32,614,612 (GRCm39) I255K probably benign Het
Myh1 A G 11: 67,104,273 (GRCm39) N980S probably benign Het
Nap1l4 T A 7: 143,088,024 (GRCm39) Q178L probably damaging Het
Ncapg T A 5: 45,857,252 (GRCm39) L988Q probably damaging Het
Ncf2 A T 1: 152,706,123 (GRCm39) H245L probably damaging Het
Neurl4 A G 11: 69,794,036 (GRCm39) E164G possibly damaging Het
Nf1 G A 11: 79,303,571 (GRCm39) R416H probably damaging Het
Obscn G A 11: 59,026,535 (GRCm39) Q223* probably null Het
Or10q1 T A 19: 13,727,417 (GRCm39) *316R probably null Het
Or2o1 T C 11: 49,051,675 (GRCm39) I278T probably benign Het
Pcdhb16 T A 18: 37,612,715 (GRCm39) N558K probably damaging Het
Pcnx2 A T 8: 126,542,422 (GRCm39) M1253K possibly damaging Het
Pla2g4a A G 1: 149,797,832 (GRCm39) V22A probably damaging Het
Plppr5 G A 3: 117,419,555 (GRCm39) probably null Het
Pnpla2 T C 7: 141,039,345 (GRCm39) S353P probably benign Het
Pom121 A T 5: 135,420,608 (GRCm39) L271Q unknown Het
Prepl A T 17: 85,395,979 (GRCm39) M1K probably null Het
Prr14l A G 5: 33,001,813 (GRCm39) probably benign Het
Psmc3 C A 2: 90,888,189 (GRCm39) P325T probably benign Het
Psme2b A G 11: 48,836,896 (GRCm39) V17A probably damaging Het
Ptpro A G 6: 137,393,863 (GRCm39) I23V probably benign Het
Rab31 A G 17: 66,079,499 (GRCm39) probably null Het
Ranbp6 T A 19: 29,789,900 (GRCm39) K151* probably null Het
Rbm12b1 A T 4: 12,146,304 (GRCm39) I759L probably benign Het
Rgs5 T C 1: 169,504,425 (GRCm39) I25T probably benign Het
Rnf213 T C 11: 119,371,721 (GRCm39) V4842A probably damaging Het
Rtl9 A T X: 141,886,037 (GRCm39) I1150F probably damaging Het
Scn1a A T 2: 66,158,769 (GRCm39) W384R probably damaging Het
Sema5a C T 15: 32,681,765 (GRCm39) P948L probably damaging Het
Slc26a3 G A 12: 31,515,777 (GRCm39) R559Q probably damaging Het
Slc29a3 A G 10: 60,552,243 (GRCm39) V267A probably benign Het
Spata22 A G 11: 73,221,953 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,454 (GRCm39) I909L probably benign Het
Sptbn2 G T 19: 4,795,327 (GRCm39) R1595L probably benign Het
Tfdp1 T C 8: 13,423,039 (GRCm39) S315P possibly damaging Het
Tle1 A T 4: 72,038,463 (GRCm39) V688E probably damaging Het
Tmem129 A T 5: 33,812,665 (GRCm39) probably null Het
Tmprss11a G A 5: 86,579,702 (GRCm39) T91I probably benign Het
Tnfsf14 A G 17: 57,497,807 (GRCm39) Y142H probably damaging Het
Tph1 T C 7: 46,311,538 (GRCm39) D68G probably benign Het
Ttn A T 2: 76,592,631 (GRCm39) S12507T probably damaging Het
Tubgcp2 T A 7: 139,586,066 (GRCm39) M408L probably benign Het
Usp34 A T 11: 23,314,503 (GRCm39) H815L probably benign Het
Usp6nl G A 2: 6,446,330 (GRCm39) R746H probably benign Het
Utp20 A G 10: 88,652,841 (GRCm39) S358P probably benign Het
Vmn2r118 G A 17: 55,899,882 (GRCm39) T674I probably damaging Het
Vmn2r8 A T 5: 108,950,249 (GRCm39) H199Q probably benign Het
Vmn2r9 A G 5: 108,995,388 (GRCm39) V420A probably benign Het
Vmn2r99 A T 17: 19,599,077 (GRCm39) T254S probably benign Het
Zbed5 A G 5: 129,930,510 (GRCm39) H132R possibly damaging Het
Zfp568 A G 7: 29,688,513 (GRCm39) E25G probably damaging Het
Zfp951 T A 5: 104,964,866 (GRCm39) I67L possibly damaging 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
IGL00966:Jak3 APN 8 72,131,656 (GRCm39) missense probably benign 0.24
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
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
Predicted Primers PCR Primer
(F):5'- GAAACAGTCTCAGCATGGCG -3'
(R):5'- AATCGCCATGGTCCTTGGTTTC -3'

Sequencing Primer
(F):5'- TTGGAGACAGAACTGAGC -3'
(R):5'- GGTTTCTGCTACCACCCAAGAG -3'
Posted On 2014-08-25