Incidental Mutation 'R6870:Tyk2'
ID 536145
Institutional Source Beutler Lab
Gene Symbol Tyk2
Ensembl Gene ENSMUSG00000032175
Gene Name tyrosine kinase 2
Synonyms JTK1
MMRRC Submission 044967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6870 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21015364-21042539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21036250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 79 (F79S)
Ref Sequence ENSEMBL: ENSMUSP00000150354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000214864] [ENSMUST00000216874]
AlphaFold Q9R117
Predicted Effect probably damaging
Transcript: ENSMUST00000001036
AA Change: F79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: F79S

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
Predicted Effect probably damaging
Transcript: ENSMUST00000214454
AA Change: F79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214864
AA Change: F79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216874
AA Change: F79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 72% (39/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,020,608 (GRCm39) Y62C probably benign Het
A1bg T C 15: 60,791,564 (GRCm39) T291A probably damaging Het
Abcb11 A G 2: 69,115,642 (GRCm39) I574T possibly damaging Het
Abcb5 T A 12: 118,929,000 (GRCm39) Y17F possibly damaging Het
Arfgef3 A T 10: 18,522,478 (GRCm39) L516* probably null Het
Arhgap21 A G 2: 20,885,321 (GRCm39) S619P probably damaging Het
Atp2c1 A G 9: 105,347,261 (GRCm39) V65A probably benign Het
Calm3 T A 7: 16,653,568 (GRCm39) Q9L probably benign Het
Cd300c2 C T 11: 114,891,503 (GRCm39) D124N probably damaging Het
Celsr3 A G 9: 108,706,390 (GRCm39) T958A probably benign Het
Cemip2 T C 19: 21,809,487 (GRCm39) S956P possibly damaging Het
Cfap69 T C 5: 5,671,958 (GRCm39) T317A probably benign Het
Cluh T A 11: 74,556,210 (GRCm39) I887K probably damaging Het
Dag1 A T 9: 108,086,457 (GRCm39) V228E probably damaging Het
Dhtkd1 T C 2: 5,924,248 (GRCm39) probably null Het
Dnah1 T A 14: 30,993,018 (GRCm39) K2959* probably null Het
Dnttip2 T A 3: 122,069,457 (GRCm39) V224E probably damaging Het
Drosha C T 15: 12,907,479 (GRCm39) P1071L probably benign Het
E030025P04Rik T A 11: 109,030,993 (GRCm39) H84L unknown Het
Elac2 A T 11: 64,890,589 (GRCm39) S698C probably null Het
Elf2 A T 3: 51,201,586 (GRCm39) *88R probably null Het
Fastkd1 T A 2: 69,538,958 (GRCm39) I143L probably benign Het
Fbxw10 C T 11: 62,746,193 (GRCm39) R366C probably damaging Het
Frg2f1 T C 4: 119,388,329 (GRCm39) M57V probably benign Het
Gbp4 T C 5: 105,273,444 (GRCm39) S129G probably damaging Het
Gnat2 A C 3: 108,002,947 (GRCm39) probably benign Het
Golgb1 C A 16: 36,738,565 (GRCm39) F2301L probably damaging Het
Il18bp T C 7: 101,666,518 (GRCm39) T2A possibly damaging Het
Kpna2 T C 11: 106,883,520 (GRCm39) probably null Het
Lrrfip2 A T 9: 111,045,187 (GRCm39) probably benign Het
Map4k1 T G 7: 28,701,096 (GRCm39) probably null Het
Mcm3ap T C 10: 76,306,049 (GRCm39) V54A probably benign Het
Nup133 A G 8: 124,626,246 (GRCm39) I1112T probably benign Het
Or8b1 A C 9: 38,399,382 (GRCm39) D19A probably benign Het
Pcdhac1 T A 18: 37,225,140 (GRCm39) V651D probably damaging Het
Pde10a A G 17: 9,186,356 (GRCm39) T571A possibly damaging Het
Phc3 A G 3: 30,990,910 (GRCm39) S403P probably damaging Het
Prl7b1 T C 13: 27,788,516 (GRCm39) E113G probably damaging Het
Psmd2 T G 16: 20,480,593 (GRCm39) M744R probably benign Het
Qrich2 T C 11: 116,346,156 (GRCm39) D1556G probably damaging Het
Septin1 C T 7: 126,816,876 (GRCm39) V46M probably benign Het
Shank2 C A 7: 143,606,197 (GRCm39) Q127K probably damaging Het
Siah1a A G 8: 87,451,653 (GRCm39) V277A possibly damaging Het
Slc4a7 T A 14: 14,733,846 (GRCm38) D85E probably damaging Het
Slc5a12 A T 2: 110,472,155 (GRCm39) I526F probably damaging Het
Svil T C 18: 5,063,231 (GRCm39) V834A possibly damaging Het
Sycp1 T A 3: 102,842,919 (GRCm39) S17C probably damaging Het
Tssk6 G A 8: 70,355,673 (GRCm39) R239Q probably benign Het
Txnrd1 A G 10: 82,709,042 (GRCm39) D80G probably benign Het
Tyrp1 T C 4: 80,769,014 (GRCm39) S503P probably benign Het
Upf1 A T 8: 70,794,211 (GRCm39) C232S probably benign Het
Zeb2 G A 2: 44,878,922 (GRCm39) T1080I 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
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
R8312:Tyk2 UTSW 9 21,026,945 (GRCm39) missense possibly damaging 0.69
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'- TGGATACATGGGTGTGCACG -3'
(R):5'- ACATAGTCCAGTGTCCCTACC -3'

Sequencing Primer
(F):5'- TGCGCGCATGCACACAC -3'
(R):5'- CCAACCTGCAAGGAAGCTG -3'
Posted On 2018-10-18