Incidental Mutation 'R6260:Jak3'
ID 506628
Institutional Source Beutler Lab
Gene Symbol Jak3
Ensembl Gene ENSMUSG00000031805
Gene Name Janus kinase 3
Synonyms
MMRRC Submission 044377-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R6260 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72129027-72143221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72131954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 177 (Q177K)
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: Q177K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: Q177K

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: Q177K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: Q177K

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: Q177K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: Q177K

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,844,821 (GRCm39) N1514K probably damaging Het
Abcb4 G T 5: 8,984,219 (GRCm39) G650* probably null Het
Acsbg1 T A 9: 54,535,751 (GRCm39) probably null Het
Alms1 A T 6: 85,605,717 (GRCm39) K2456* probably null Het
Alppl2 A T 1: 87,016,184 (GRCm39) M225K probably damaging Het
Ank2 C T 3: 126,737,206 (GRCm39) V2806I probably benign Het
Atxn10 A T 15: 85,346,612 (GRCm39) I457F probably benign Het
Cad G T 5: 31,224,144 (GRCm39) M800I probably null Het
Carmil3 T A 14: 55,737,889 (GRCm39) L815Q probably damaging Het
Ccz1 A G 5: 143,940,859 (GRCm39) probably null Het
Cdc73 G A 1: 143,567,211 (GRCm39) T104I probably benign Het
Cfap52 A T 11: 67,829,780 (GRCm39) C330S possibly damaging Het
Clec16a C T 16: 10,512,712 (GRCm39) probably benign Het
Cntn3 A G 6: 102,254,178 (GRCm39) probably null Het
Crocc2 A G 1: 93,141,360 (GRCm39) K1171R possibly damaging Het
Ctsa T C 2: 164,676,281 (GRCm39) V86A probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddhd2 A G 8: 26,242,144 (GRCm39) F244L probably benign Het
Ddn A G 15: 98,703,735 (GRCm39) V519A possibly damaging Het
Dip2b G T 15: 100,060,583 (GRCm39) V253L probably benign Het
Dnah17 C A 11: 118,017,148 (GRCm39) W197C probably damaging Het
Dnah17 A T 11: 118,017,150 (GRCm39) W197R probably damaging Het
Dnah17 C T 11: 118,017,149 (GRCm39) W197* probably null Het
Ercc6 T A 14: 32,279,813 (GRCm39) D609E probably benign Het
Erg C A 16: 95,181,100 (GRCm39) R147L probably damaging Het
Fbxo41 A T 6: 85,455,537 (GRCm39) L549H probably damaging Het
Foxd4 A G 19: 24,876,968 (GRCm39) S411P probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Galntl6 T A 8: 58,337,515 (GRCm39) D135V probably damaging Het
Gm1043 G C 5: 37,331,816 (GRCm39) G832A probably benign Het
Gm21103 C T 14: 17,484,841 (GRCm39) E68K probably damaging Het
Gpam A G 19: 55,071,838 (GRCm39) V301A probably benign Het
H2-M10.1 T A 17: 36,634,994 (GRCm39) I304F unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnu1 G A 8: 26,341,919 (GRCm39) R88H probably damaging Het
Kng1 A T 16: 22,877,371 (GRCm39) I60F possibly damaging Het
Krt77 A T 15: 101,772,807 (GRCm39) Y257* probably null Het
Lcor G T 19: 41,570,810 (GRCm39) S1I possibly damaging Het
Lcor A T 19: 41,570,809 (GRCm39) S1C probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Map4k5 C A 12: 69,878,336 (GRCm39) R355L probably benign Het
Mefv C T 16: 3,530,898 (GRCm39) R498H probably benign Het
Mical3 A T 6: 120,985,991 (GRCm39) L150Q probably damaging Het
Mtcl1 T A 17: 66,650,536 (GRCm39) Q1340L probably damaging Het
Nfic A T 10: 81,256,351 (GRCm39) C126* probably null Het
Nisch T A 14: 30,899,085 (GRCm39) probably benign Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or2ag1b A T 7: 106,288,079 (GRCm39) N286K probably damaging Het
Or4f15 C T 2: 111,814,396 (GRCm39) V8I probably benign Het
Or6c65 C A 10: 129,603,389 (GRCm39) T8K probably benign Het
Pcdhb12 T C 18: 37,569,892 (GRCm39) V346A probably benign Het
Pla2g4a A G 1: 149,733,238 (GRCm39) S504P probably benign Het
Plin2 G T 4: 86,575,526 (GRCm39) A341D probably damaging Het
Plxnb2 A T 15: 89,049,494 (GRCm39) I575N probably benign Het
Pnma8b T G 7: 16,680,158 (GRCm39) W381G probably benign Het
Psma8 A G 18: 14,854,324 (GRCm39) D68G probably damaging Het
Rcor3 G A 1: 191,808,559 (GRCm39) H207Y probably benign Het
Rwdd2b C A 16: 87,231,356 (GRCm39) G266V probably damaging Het
Ryr3 A G 2: 112,490,449 (GRCm39) F3795S probably damaging Het
Slc28a2b A T 2: 122,353,963 (GRCm39) I530F probably damaging Het
Sord T A 2: 122,089,613 (GRCm39) probably null Het
Spdl1 T A 11: 34,710,713 (GRCm39) N345I probably damaging Het
St8sia2 T A 7: 73,626,441 (GRCm39) R42S possibly damaging Het
Syt9 G T 7: 107,035,717 (GRCm39) V245F possibly damaging Het
Tbpl2 T A 2: 23,984,898 (GRCm39) N82I possibly damaging Het
Tcerg1 T A 18: 42,686,530 (GRCm39) Y696N probably damaging Het
Thsd7b A G 1: 129,595,655 (GRCm39) T492A probably benign Het
Timm13 A C 10: 80,736,135 (GRCm39) probably benign Het
Trdmt1 T A 2: 13,524,870 (GRCm39) Q195L probably benign Het
Ttc27 T A 17: 75,165,086 (GRCm39) V764D probably damaging Het
Ttc39d C A 17: 80,524,076 (GRCm39) S245* probably null Het
Ttc41 A G 10: 86,567,023 (GRCm39) E563G probably benign Het
Ttc41 A T 10: 86,569,571 (GRCm39) T650S probably benign Het
U2surp A C 9: 95,358,210 (GRCm39) L723R probably damaging Het
Ubqln3 G A 7: 103,791,524 (GRCm39) Q189* probably null Het
Vezf1 A G 11: 87,972,326 (GRCm39) N229S probably damaging Het
Vmn2r79 T A 7: 86,686,365 (GRCm39) M582K probably benign Het
Zfp518a A G 19: 40,902,567 (GRCm39) D832G probably benign Het
Zfyve28 T C 5: 34,356,216 (GRCm39) N762D probably 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
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
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'- TGACCAGTGCCATCCTTGAC -3'
(R):5'- CGGCAGACAGGCTTTGTAAC -3'

Sequencing Primer
(F):5'- AGAACATCTCTTTGCTCAGGTTG -3'
(R):5'- AACGATAGGGCCCTAGAT -3'
Posted On 2018-03-15