Incidental Mutation 'R1983:Jak3'
ID 220151
Institutional Source Beutler Lab
Gene Symbol Jak3
Ensembl Gene ENSMUSG00000031805
Gene Name Janus kinase 3
Synonyms
MMRRC Submission 039995-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.702) question?
Stock # R1983 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72129027-72143221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72131019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 13 (Q13L)
Ref Sequence ENSEMBL: ENSMUSP00000105640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051995
AA Change: Q13L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: Q13L

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 possibly damaging
Transcript: ENSMUST00000110012
AA Change: Q13L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: Q13L

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 possibly damaging
Transcript: ENSMUST00000110013
AA Change: Q13L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: Q13L

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: 94.7%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,272 (GRCm39) V133E probably damaging Het
Aco1 G A 4: 40,175,845 (GRCm39) G160S probably benign Het
Actn2 C T 13: 12,293,696 (GRCm39) R608H probably benign Het
Adora2a A C 10: 75,169,480 (GRCm39) S315R probably benign Het
Arhgap42 T C 9: 9,017,018 (GRCm39) Y382C probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atg4c A G 4: 99,116,812 (GRCm39) Y318C probably damaging Het
Baz2a C T 10: 127,959,828 (GRCm39) T1408I probably benign Het
Bbx T A 16: 50,029,480 (GRCm39) Q663L possibly damaging Het
Bltp1 A G 3: 36,942,014 (GRCm39) D273G probably null Het
Btbd3 T G 2: 138,125,608 (GRCm39) L264R probably damaging Het
Cfi T C 3: 129,662,194 (GRCm39) I391T probably damaging Het
Chadl T C 15: 81,578,097 (GRCm39) I45V probably benign Het
Chd5 C A 4: 152,469,123 (GRCm39) A1853D possibly damaging Het
Cmas G T 6: 142,716,312 (GRCm39) D251Y probably damaging Het
Cyp2d10 A G 15: 82,290,200 (GRCm39) M90T probably benign Het
D630003M21Rik A G 2: 158,050,341 (GRCm39) F714L probably benign Het
Dguok A T 6: 83,464,110 (GRCm39) Y126* probably null Het
Dnai1 A G 4: 41,603,232 (GRCm39) K172E probably benign Het
Dnai2 T A 11: 114,626,682 (GRCm39) probably null Het
Efcab6 A T 15: 83,777,163 (GRCm39) probably benign Het
Eln A T 5: 134,765,194 (GRCm39) probably null Het
Epor T C 9: 21,870,696 (GRCm39) T395A probably benign Het
Evc2 G T 5: 37,573,275 (GRCm39) E996* probably null Het
Fam124b T A 1: 80,191,364 (GRCm39) E6D probably benign Het
Filip1 T A 9: 79,767,374 (GRCm39) K146N probably damaging Het
Filip1l T C 16: 57,391,637 (GRCm39) S742P probably damaging Het
Fsip2 G T 2: 82,810,175 (GRCm39) V2165L probably benign Het
Gcdh A T 8: 85,617,539 (GRCm39) V227E possibly damaging Het
Gm12185 T C 11: 48,806,183 (GRCm39) N336S probably benign Het
Gm12695 G T 4: 96,627,214 (GRCm39) A399E possibly damaging Het
Gm16503 T A 4: 147,625,749 (GRCm39) V81E unknown Het
Gpr137c T C 14: 45,517,428 (GRCm39) V388A probably benign Het
Hgf A G 5: 16,766,010 (GRCm39) T49A possibly damaging Het
Hspa1a G T 17: 35,189,938 (GRCm39) R322S probably benign Het
Kif11 C T 19: 37,379,224 (GRCm39) T305I possibly damaging Het
Lcor T A 19: 41,546,806 (GRCm39) V130E probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp1b C T 2: 41,401,416 (GRCm39) probably null Het
Mdga1 G A 17: 30,069,579 (GRCm39) R430C probably damaging Het
Mfsd12 T A 10: 81,198,090 (GRCm39) probably null Het
Mmp27 T A 9: 7,578,898 (GRCm39) probably null Het
Mtnr1a A T 8: 45,540,471 (GRCm39) N144I probably benign Het
Mycbp2 T C 14: 103,383,407 (GRCm39) T3563A probably damaging Het
Myef2 T A 2: 124,940,765 (GRCm39) M355L probably benign Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or5b104 A G 19: 13,072,748 (GRCm39) I88T probably benign Het
Or5p51 C T 7: 107,444,619 (GRCm39) G107D probably benign Het
Or8k27 T A 2: 86,275,420 (GRCm39) H302L probably benign Het
Parg A G 14: 31,939,653 (GRCm39) K560E probably damaging Het
Pck2 G A 14: 55,781,525 (GRCm39) probably null Het
Pdcd6 T C 13: 74,452,119 (GRCm39) I174V probably benign Het
Pomgnt1 T C 4: 116,009,066 (GRCm39) L57S probably damaging Het
Pomgnt1 C A 4: 116,009,117 (GRCm39) P74Q probably benign Het
Prdm4 T C 10: 85,743,817 (GRCm39) Y146C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Prune2 A G 19: 16,998,006 (GRCm39) M248V probably damaging Het
Ric8b T A 10: 84,837,702 (GRCm39) M503K probably damaging Het
Ror2 C T 13: 53,264,444 (GRCm39) V871M probably benign Het
Ryr1 T C 7: 28,758,897 (GRCm39) N3427S possibly damaging Het
Ryr2 A G 13: 11,600,288 (GRCm39) probably null Het
Scimp C T 11: 70,691,540 (GRCm39) V30I probably damaging Het
Skint4 A G 4: 112,003,689 (GRCm39) E374G probably benign Het
Slc6a20a A G 9: 123,469,652 (GRCm39) Y482H probably damaging Het
Slitrk5 A G 14: 111,917,821 (GRCm39) S482G probably benign Het
Spopfm2 T G 3: 94,083,601 (GRCm39) D70A possibly damaging Het
Strc T A 2: 121,201,518 (GRCm39) M1229L possibly damaging Het
Tasor2 G T 13: 3,624,853 (GRCm39) T1699K possibly damaging Het
Terf2 T C 8: 107,809,640 (GRCm39) Y226C probably damaging Het
Tex10 A T 4: 48,460,059 (GRCm39) L431I possibly damaging Het
Tnc A G 4: 63,902,867 (GRCm39) V1470A possibly damaging Het
Ttll13 T C 7: 79,903,364 (GRCm39) I248T possibly damaging Het
Ttn T C 2: 76,619,369 (GRCm39) N16031S possibly damaging Het
Ttn T A 2: 76,587,104 (GRCm39) K21631M probably damaging Het
Uroc1 A T 6: 90,322,351 (GRCm39) S292C probably damaging Het
Vmn1r80 A T 7: 11,927,588 (GRCm39) M233L probably benign Het
Wdr31 A T 4: 62,378,840 (GRCm39) M129K probably damaging Het
Wnk1 A T 6: 119,914,539 (GRCm39) N1754K probably damaging Het
Xirp1 G A 9: 119,845,695 (GRCm39) Q1063* probably null Het
Zfp799 C A 17: 33,041,084 (GRCm39) V32L probably damaging Het
Zfyve9 A T 4: 108,546,386 (GRCm39) D874E 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
R1967:Jak3 UTSW 8 72,134,179 (GRCm39) missense probably damaging 1.00
R1983:Jak3 UTSW 8 72,140,780 (GRCm39) missense probably benign
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'- CTGGAATATTGGCTTGGCTGAC -3'
(R):5'- CATGGCATGGTCATCTAGGG -3'

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