Incidental Mutation 'R1843:Tyk2'
ID 207441
Institutional Source Beutler Lab
Gene Symbol Tyk2
Ensembl Gene ENSMUSG00000032175
Gene Name tyrosine kinase 2
Synonyms JTK1
MMRRC Submission 039868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1843 (G1)
Quality Score 141
Status Not validated
Chromosome 9
Chromosomal Location 21015364-21042539 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 21032850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 304 (C304*)
Ref Sequence ENSEMBL: ENSMUSP00000150354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000214864] [ENSMUST00000216874]
AlphaFold Q9R117
Predicted Effect probably null
Transcript: ENSMUST00000001036
AA Change: C304*
SMART Domains Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: C304*

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 noncoding transcript
Transcript: ENSMUST00000135674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213717
Predicted Effect probably null
Transcript: ENSMUST00000214454
AA Change: C281*
Predicted Effect probably benign
Transcript: ENSMUST00000214864
Predicted Effect probably null
Transcript: ENSMUST00000216874
AA Change: C304*
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik C T 8: 106,435,606 (GRCm39) T88M probably damaging Het
9430038I01Rik A G 7: 136,978,795 (GRCm39) probably benign Het
Adgra3 A C 5: 50,118,834 (GRCm39) S905A probably damaging Het
Adgrv1 A G 13: 81,692,652 (GRCm39) Y1618H probably damaging Het
Anapc15-ps T C 10: 95,509,176 (GRCm39) T26A probably benign Het
Ankrd13d T C 19: 4,321,623 (GRCm39) K360E probably damaging Het
Anks1b T A 10: 90,348,751 (GRCm39) probably null Het
Apob T C 12: 8,057,602 (GRCm39) F2028S possibly damaging Het
Arap3 G A 18: 38,108,636 (GRCm39) R1265W probably damaging Het
Arhgef37 A G 18: 61,651,121 (GRCm39) Y135H probably damaging Het
Armh3 A C 19: 45,963,691 (GRCm39) S42R probably benign Het
Atp1a1 T C 3: 101,489,333 (GRCm39) T760A probably benign Het
Cdc42bpb T A 12: 111,289,255 (GRCm39) M497L probably benign Het
Ces5a C T 8: 94,240,859 (GRCm39) V413M probably damaging Het
Chd5 A T 4: 152,470,263 (GRCm39) Y1903F probably damaging Het
Chd9 T A 8: 91,737,422 (GRCm39) N1500K probably benign Het
Chmp7 G T 14: 69,957,248 (GRCm39) D303E probably benign Het
Chrnb4 A T 9: 54,942,102 (GRCm39) Y391N possibly damaging Het
Crtc1 T C 8: 70,840,802 (GRCm39) T475A probably benign Het
Cyp2c69 A G 19: 39,865,972 (GRCm39) I207T probably benign Het
Dcp1a A G 14: 30,240,940 (GRCm39) E250G probably damaging Het
Ddx20 T C 3: 105,586,398 (GRCm39) Q649R probably benign Het
Defb12 T A 8: 19,162,754 (GRCm39) K59N probably damaging Het
Dpy19l3 A T 7: 35,429,185 (GRCm39) I85N probably damaging Het
Duox2 C T 2: 122,122,739 (GRCm39) probably null Het
Ebi3 T A 17: 56,263,679 (GRCm39) Y197N probably damaging Het
Emc1 G A 4: 139,102,823 (GRCm39) R994Q probably benign Het
Ercc6 G T 14: 32,268,777 (GRCm39) M530I probably damaging Het
Evl T A 12: 108,619,255 (GRCm39) D70E probably damaging Het
Fbln2 A G 6: 91,242,757 (GRCm39) N819S probably damaging Het
Foxk2 A G 11: 121,176,363 (GRCm39) I170V probably benign Het
Gfm1 T C 3: 67,342,943 (GRCm39) V159A probably damaging Het
Gm10837 A G 14: 122,728,177 (GRCm39) T18A unknown Het
Gm12887 A T 4: 121,479,227 (GRCm39) V25E probably damaging Het
Hectd4 A G 5: 121,435,243 (GRCm39) H985R possibly damaging Het
Hsfy2 A G 1: 56,675,791 (GRCm39) Y249H possibly damaging Het
Hspg2 T C 4: 137,272,878 (GRCm39) V2639A probably damaging Het
Igf2r A G 17: 12,923,157 (GRCm39) probably null Het
Invs T A 4: 48,422,035 (GRCm39) I889N probably damaging Het
Kcnq1 A T 7: 142,736,857 (GRCm39) M209L probably benign Het
Klra7 A G 6: 130,206,957 (GRCm39) I48T possibly damaging Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrif1 T A 3: 106,640,127 (GRCm39) V404D probably damaging Het
Lrriq1 T A 10: 103,063,034 (GRCm39) probably null Het
Lypd6 T A 2: 50,078,774 (GRCm39) I90N possibly damaging Het
Mbp A G 18: 82,602,247 (GRCm39) D174G probably damaging Het
Megf9 G T 4: 70,453,022 (GRCm39) P13Q probably damaging Het
Myo15b A T 11: 115,760,412 (GRCm39) T1155S probably benign Het
Nherf2 C T 17: 24,860,693 (GRCm39) S150N possibly damaging Het
Nlrp6 T A 7: 140,503,006 (GRCm39) C371S probably damaging Het
Nosip T A 7: 44,726,733 (GRCm39) probably null Het
Nox3 G T 17: 3,720,153 (GRCm39) P344H probably damaging Het
Nup210l T C 3: 90,079,393 (GRCm39) V959A probably damaging Het
Or10d1 A G 9: 39,484,031 (GRCm39) Y175H possibly damaging Het
Or2b2b C A 13: 21,858,842 (GRCm39) V91L probably benign Het
Or2k2 T C 4: 58,785,384 (GRCm39) I113V probably benign Het
Or5b119 A G 19: 13,457,295 (GRCm39) I89T probably benign Het
Or5k8 T A 16: 58,644,440 (GRCm39) I211F probably damaging Het
Osbpl3 A C 6: 50,347,123 (GRCm39) S25A probably damaging Het
Otog G A 7: 45,895,707 (GRCm39) C107Y probably damaging Het
Pax7 G A 4: 139,511,802 (GRCm39) R260C probably damaging Het
Pbrm1 A T 14: 30,760,914 (GRCm39) I224F probably damaging Het
Pcdh1 T A 18: 38,325,278 (GRCm39) probably null Het
Pcnx1 T C 12: 82,027,709 (GRCm39) L1585P probably damaging Het
Pde4c C T 8: 71,200,599 (GRCm39) H362Y probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pgm1 A T 4: 99,818,675 (GRCm39) Q90L probably damaging Het
Phlpp1 A G 1: 106,271,235 (GRCm39) H814R probably benign Het
Pknox2 A T 9: 36,866,127 (GRCm39) M5K possibly damaging Het
Pole G A 5: 110,478,701 (GRCm39) probably null Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prelp T C 1: 133,842,495 (GRCm39) K217E probably damaging Het
Prkce C T 17: 86,782,974 (GRCm39) Q202* probably null Het
Psmd2 T G 16: 20,475,332 (GRCm39) M370R probably benign Het
Rimklb A T 6: 122,440,968 (GRCm39) H68Q probably damaging Het
Rnasel A G 1: 153,630,420 (GRCm39) D312G possibly damaging Het
Rxrg A T 1: 167,426,321 (GRCm39) M1L probably benign Het
Scrn1 A G 6: 54,499,826 (GRCm39) F220L possibly damaging Het
Scyl3 A G 1: 163,778,244 (GRCm39) S461G probably benign Het
Serpina1c T A 12: 103,861,282 (GRCm39) T411S probably benign Het
Serpinb6d C T 13: 33,855,364 (GRCm39) P346L probably benign Het
Shld2 A G 14: 33,989,760 (GRCm39) I382T probably benign Het
Spg21 G T 9: 65,372,618 (GRCm39) V17F probably damaging Het
Spink5 A T 18: 44,132,958 (GRCm39) M525L probably benign Het
Sun2 T C 15: 79,621,764 (GRCm39) T155A probably benign Het
Tchh T A 3: 93,354,087 (GRCm39) F1176I unknown Het
Tex15 T A 8: 34,066,682 (GRCm39) D2037E probably benign Het
Tfdp2 T C 9: 96,199,857 (GRCm39) C392R possibly damaging Het
Tmem30c T C 16: 57,097,143 (GRCm39) N139S probably benign Het
Tns2 C T 15: 102,021,568 (GRCm39) probably null Het
Trim66 T C 7: 109,075,046 (GRCm39) E405G probably damaging Het
Trpc4 T A 3: 54,187,415 (GRCm39) F456I probably benign Het
Tspo2 T C 17: 48,755,818 (GRCm39) D108G possibly damaging Het
Vgll4 A T 6: 114,839,756 (GRCm39) S185T probably benign Het
Vmn2r94 A C 17: 18,464,732 (GRCm39) S519R probably benign Het
Vmn2r96 T G 17: 18,818,183 (GRCm39) S587A probably benign Het
Vps4b C A 1: 106,706,712 (GRCm39) A287S possibly damaging Het
Yeats2 C T 16: 20,048,314 (GRCm39) P1332S probably benign Het
Zfp462 T G 4: 55,010,010 (GRCm39) S659A possibly damaging Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp764l1 A C 7: 126,990,660 (GRCm39) D442E probably benign Het
Zswim5 G T 4: 116,734,896 (GRCm39) E80D unknown 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
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
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'- AAGCCAGGGTAGCTCAAGTG -3'
(R):5'- ATTCCTTCCGACAGCACATC -3'

Sequencing Primer
(F):5'- CTACAGCTATGGAGACTGCTC -3'
(R):5'- ATCCGGCAGCACAATGTG -3'
Posted On 2014-06-23