Incidental Mutation 'R8312:Tyk2'
ID 641454
Institutional Source Beutler Lab
Gene Symbol Tyk2
Ensembl Gene ENSMUSG00000032175
Gene Name tyrosine kinase 2
Synonyms JTK1
MMRRC Submission 067718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8312 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21015364-21042539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21026945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 613 (T613A)
Ref Sequence ENSEMBL: ENSMUSP00000001036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001036]
AlphaFold Q9R117
Predicted Effect possibly damaging
Transcript: ENSMUST00000001036
AA Change: T613A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: T613A

DomainStartEndE-ValueType
B41 29 301 1.51e-26 SMART
Blast:B41 408 460 3e-12 BLAST
SH2 470 562 1.26e-2 SMART
STYKc 612 886 8.89e-15 SMART
TyrKc 917 1189 6.48e-114 SMART
Meta Mutation Damage Score 0.1347 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile, but differ from wild-type with respect to interleukin 12 mediated T cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,662,190 (GRCm39) R23G probably damaging Het
Abraxas2 A G 7: 132,478,329 (GRCm39) Y163C probably damaging Het
Acnat1 A T 4: 49,449,142 (GRCm39) L208* probably null Het
Agbl5 A G 5: 31,051,850 (GRCm39) E556G probably damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arih2 A G 9: 108,521,473 (GRCm39) S2P probably damaging Het
C87436 T A 6: 86,434,813 (GRCm39) L387Q probably damaging Het
Card9 A T 2: 26,247,801 (GRCm39) Y183* probably null Het
Cdk14 T C 5: 4,944,141 (GRCm39) D394G probably benign Het
Cep135 C T 5: 76,784,746 (GRCm39) S947L probably damaging Het
Cfb T C 17: 35,077,121 (GRCm39) K505E probably benign Het
Cnot4 T A 6: 35,000,076 (GRCm39) D708V probably damaging Het
Col16a1 T A 4: 129,948,244 (GRCm39) L281M unknown Het
Col6a3 G T 1: 90,741,412 (GRCm39) D673E possibly damaging Het
Ctdnep1 G A 11: 69,879,527 (GRCm39) S150N probably benign Het
Fanca T A 8: 123,996,549 (GRCm39) probably benign Het
Fras1 T A 5: 96,736,050 (GRCm39) N548K probably benign Het
Gbp2b A G 3: 142,304,812 (GRCm39) M83V probably benign Het
Gbp2b C A 3: 142,304,815 (GRCm39) P84T probably damaging Het
Gli2 A T 1: 118,795,842 (GRCm39) probably benign Het
Greb1l A G 18: 10,511,587 (GRCm39) probably benign Het
Grn A C 11: 102,327,073 (GRCm39) K557T probably damaging Het
Hapln1 C T 13: 89,749,563 (GRCm39) A36V probably benign Het
Heg1 C T 16: 33,547,045 (GRCm39) R635W probably benign Het
Hivep1 C A 13: 42,308,653 (GRCm39) Q298K possibly damaging Het
Hmcn1 A G 1: 150,614,515 (GRCm39) I1297T probably damaging Het
Hp1bp3 T A 4: 137,950,750 (GRCm39) probably benign Het
Htr4 C G 18: 62,570,549 (GRCm39) F201L probably damaging Het
Insrr C G 3: 87,707,791 (GRCm39) Q78E possibly damaging Het
Itga6 A T 2: 71,686,297 (GRCm39) M1072L probably benign Het
Kdsr A G 1: 106,675,216 (GRCm39) probably null Het
Klhl7 T C 5: 24,339,965 (GRCm39) I149T probably damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Mag T C 7: 30,610,894 (GRCm39) Y116C probably damaging Het
Mast2 A G 4: 116,287,683 (GRCm39) S131P probably benign Het
Mlec C A 5: 115,288,266 (GRCm39) probably null Het
Mrap2 G A 9: 87,051,712 (GRCm39) probably null Het
Myo5b A G 18: 74,867,033 (GRCm39) K1395E probably damaging Het
Nipa2 G A 7: 55,583,050 (GRCm39) Q232* probably null Het
Nsd3 C T 8: 26,153,268 (GRCm39) T536M probably damaging Het
Oit3 T C 10: 59,274,632 (GRCm39) N56S probably benign Het
Or10p22 A G 10: 128,826,347 (GRCm39) T189A probably benign Het
Or13c7 A T 4: 43,854,461 (GRCm39) I51F probably benign Het
Or2m13 T C 16: 19,225,987 (GRCm39) M260V probably benign Het
Pax3 C T 1: 78,172,006 (GRCm39) R68Q probably damaging Het
Pcnx2 G T 8: 126,489,589 (GRCm39) H1668Q possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pkd1 A G 17: 24,786,102 (GRCm39) S463G probably benign Het
Plb1 C T 5: 32,485,829 (GRCm39) T871M probably damaging Het
Prdx1 A G 4: 116,556,398 (GRCm39) D182G possibly damaging Het
Prkch T A 12: 73,807,358 (GRCm39) F593I noncoding transcript Het
Psrc1 C T 3: 108,293,673 (GRCm39) P194L probably benign Het
Ptp4a2 A T 4: 129,733,427 (GRCm39) I18L probably benign Het
Samd10 A T 2: 181,238,668 (GRCm39) L153H probably damaging Het
Shc3 T G 13: 51,596,754 (GRCm39) H423P probably damaging Het
Siae A T 9: 37,557,593 (GRCm39) I467F Het
Slc27a5 C T 7: 12,725,214 (GRCm39) R411Q probably damaging Het
Spata24 A G 18: 35,793,861 (GRCm39) I56T probably benign Het
Spns3 G A 11: 72,390,534 (GRCm39) T407M probably damaging Het
Spta1 G A 1: 174,067,777 (GRCm39) C2068Y probably damaging Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Thsd7a T C 6: 12,471,181 (GRCm39) D479G Het
Trhde T C 10: 114,249,192 (GRCm39) Y858C probably damaging Het
Ttn G A 2: 76,781,992 (GRCm39) R1057C unknown Het
Tulp4 G T 17: 6,257,333 (GRCm39) probably null Het
Ugt2b37 T C 5: 87,390,799 (GRCm39) K356R probably benign Het
Vmn1r39 A G 6: 66,781,841 (GRCm39) V159A noncoding transcript Het
Vps35 A G 8: 86,001,498 (GRCm39) V440A possibly damaging Het
Zmym6 A G 4: 127,017,627 (GRCm39) N1136S probably damaging Het
Other mutations in Tyk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Tyk2 APN 9 21,031,884 (GRCm39) missense probably benign 0.27
IGL01015:Tyk2 APN 9 21,031,996 (GRCm39) missense probably benign 0.00
IGL01096:Tyk2 APN 9 21,020,159 (GRCm39) missense probably damaging 1.00
IGL01410:Tyk2 APN 9 21,020,660 (GRCm39) missense probably damaging 1.00
IGL01613:Tyk2 APN 9 21,031,872 (GRCm39) missense probably damaging 0.99
IGL01997:Tyk2 APN 9 21,021,790 (GRCm39) missense probably damaging 1.00
IGL02249:Tyk2 APN 9 21,031,703 (GRCm39) missense probably damaging 1.00
IGL02407:Tyk2 APN 9 21,020,523 (GRCm39) splice site probably benign
IGL02538:Tyk2 APN 9 21,022,339 (GRCm39) missense possibly damaging 0.94
IGL03185:Tyk2 APN 9 21,020,680 (GRCm39) missense probably damaging 1.00
conspiracy UTSW 9 21,020,072 (GRCm39) nonsense probably null
fringe UTSW 9 21,020,156 (GRCm39) missense probably benign 0.35
leonard UTSW 9 21,038,416 (GRCm39) splice site probably benign
motorbike UTSW 9 21,016,403 (GRCm39) missense probably damaging 1.00
tyke UTSW 9 21,036,250 (GRCm39) missense probably damaging 1.00
ANU74:Tyk2 UTSW 9 21,027,454 (GRCm39) missense probably damaging 1.00
R0355:Tyk2 UTSW 9 21,025,486 (GRCm39) splice site probably null
R0667:Tyk2 UTSW 9 21,020,167 (GRCm39) missense probably damaging 1.00
R0862:Tyk2 UTSW 9 21,027,463 (GRCm39) missense probably benign 0.00
R0883:Tyk2 UTSW 9 21,022,433 (GRCm39) missense possibly damaging 0.61
R1554:Tyk2 UTSW 9 21,019,218 (GRCm39) missense probably damaging 0.96
R1575:Tyk2 UTSW 9 21,026,758 (GRCm39) missense probably benign 0.00
R1664:Tyk2 UTSW 9 21,031,649 (GRCm39) missense probably damaging 1.00
R1676:Tyk2 UTSW 9 21,026,545 (GRCm39) nonsense probably null
R1843:Tyk2 UTSW 9 21,032,850 (GRCm39) nonsense probably null
R1871:Tyk2 UTSW 9 21,032,737 (GRCm39) missense probably damaging 1.00
R2044:Tyk2 UTSW 9 21,031,637 (GRCm39) missense probably damaging 1.00
R2137:Tyk2 UTSW 9 21,022,281 (GRCm39) intron probably benign
R2197:Tyk2 UTSW 9 21,026,503 (GRCm39) missense probably damaging 1.00
R2883:Tyk2 UTSW 9 21,021,883 (GRCm39) missense probably benign 0.01
R2941:Tyk2 UTSW 9 21,022,415 (GRCm39) missense probably benign 0.00
R3001:Tyk2 UTSW 9 21,020,617 (GRCm39) missense probably benign 0.00
R3002:Tyk2 UTSW 9 21,020,617 (GRCm39) missense probably benign 0.00
R3196:Tyk2 UTSW 9 21,035,328 (GRCm39) missense possibly damaging 0.80
R3622:Tyk2 UTSW 9 21,038,606 (GRCm39) missense probably damaging 0.98
R4024:Tyk2 UTSW 9 21,027,215 (GRCm39) missense probably damaging 1.00
R4459:Tyk2 UTSW 9 21,035,711 (GRCm39) missense probably damaging 1.00
R4604:Tyk2 UTSW 9 21,019,305 (GRCm39) missense probably damaging 1.00
R4664:Tyk2 UTSW 9 21,025,503 (GRCm39) missense probably damaging 0.99
R4666:Tyk2 UTSW 9 21,025,503 (GRCm39) missense probably damaging 0.99
R4915:Tyk2 UTSW 9 21,022,433 (GRCm39) missense probably benign 0.41
R4971:Tyk2 UTSW 9 21,031,797 (GRCm39) critical splice donor site probably null
R5014:Tyk2 UTSW 9 21,027,126 (GRCm39) splice site probably null
R5191:Tyk2 UTSW 9 21,018,793 (GRCm39) missense probably damaging 0.98
R5305:Tyk2 UTSW 9 21,020,677 (GRCm39) missense probably damaging 0.99
R5356:Tyk2 UTSW 9 21,027,040 (GRCm39) missense probably benign 0.03
R5501:Tyk2 UTSW 9 21,032,908 (GRCm39) missense probably damaging 1.00
R6025:Tyk2 UTSW 9 21,027,256 (GRCm39) missense probably benign 0.05
R6113:Tyk2 UTSW 9 21,019,218 (GRCm39) missense probably damaging 1.00
R6159:Tyk2 UTSW 9 21,021,800 (GRCm39) missense probably damaging 0.99
R6608:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6610:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6612:Tyk2 UTSW 9 21,019,312 (GRCm39) missense probably benign 0.02
R6870:Tyk2 UTSW 9 21,036,250 (GRCm39) missense probably damaging 1.00
R7216:Tyk2 UTSW 9 21,031,822 (GRCm39) missense probably benign 0.01
R7218:Tyk2 UTSW 9 21,016,350 (GRCm39) missense probably damaging 1.00
R7298:Tyk2 UTSW 9 21,020,156 (GRCm39) missense probably benign 0.35
R7322:Tyk2 UTSW 9 21,021,500 (GRCm39) missense probably benign
R7347:Tyk2 UTSW 9 21,019,330 (GRCm39) missense probably damaging 0.99
R7759:Tyk2 UTSW 9 21,031,554 (GRCm39) critical splice donor site probably null
R7840:Tyk2 UTSW 9 21,036,263 (GRCm39) missense probably damaging 1.00
R7854:Tyk2 UTSW 9 21,026,776 (GRCm39) missense probably benign
R7914:Tyk2 UTSW 9 21,032,851 (GRCm39) missense probably benign 0.01
R8892:Tyk2 UTSW 9 21,027,463 (GRCm39) missense probably benign 0.00
R8934:Tyk2 UTSW 9 21,038,416 (GRCm39) splice site probably benign
R9013:Tyk2 UTSW 9 21,016,403 (GRCm39) missense probably damaging 1.00
R9091:Tyk2 UTSW 9 21,035,841 (GRCm39) missense probably damaging 1.00
R9097:Tyk2 UTSW 9 21,020,072 (GRCm39) nonsense probably null
R9104:Tyk2 UTSW 9 21,026,762 (GRCm39) missense possibly damaging 0.65
R9270:Tyk2 UTSW 9 21,035,841 (GRCm39) missense probably damaging 1.00
Z1177:Tyk2 UTSW 9 21,020,171 (GRCm39) missense probably damaging 1.00
Z1177:Tyk2 UTSW 9 21,016,663 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGGTCGAGAACTTTGAGC -3'
(R):5'- TTTCAGTAATGGCCCTCGGG -3'

Sequencing Primer
(F):5'- GGTCGAGAACTTTGAGCACCAC -3'
(R):5'- GCCGGTGATGACTGTTTCCC -3'
Posted On 2020-07-28