Incidental Mutation 'R0355:Tyk2'
| ID |
65386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
038561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0355 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21025486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001036
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000001036
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216874
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,021 (GRCm39) |
I52M |
possibly damaging |
Het |
| Agbl5 |
G |
T |
5: 31,049,335 (GRCm39) |
|
probably null |
Het |
| Akt2 |
T |
C |
7: 27,336,334 (GRCm39) |
|
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,209,378 (GRCm39) |
S138T |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,952,800 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,553,919 (GRCm39) |
N422Y |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,951 (GRCm39) |
P185S |
possibly damaging |
Het |
| Cep63 |
G |
T |
9: 102,500,759 (GRCm39) |
Q38K |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,682,242 (GRCm39) |
S446G |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,952,206 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,968,330 (GRCm39) |
Q3099L |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,708,279 (GRCm39) |
T479I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,535,067 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,502,992 (GRCm39) |
C66* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,427,272 (GRCm39) |
|
probably null |
Het |
| Dnajb9 |
T |
A |
12: 44,253,987 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,857,413 (GRCm39) |
V237M |
probably damaging |
Het |
| Dscam |
C |
A |
16: 96,456,105 (GRCm39) |
E1274D |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,727,572 (GRCm39) |
H243R |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,473,656 (GRCm39) |
|
probably benign |
Het |
| Fcgrt |
T |
A |
7: 44,752,493 (GRCm39) |
M1L |
unknown |
Het |
| Flii |
T |
C |
11: 60,610,506 (GRCm39) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
T |
C |
11: 53,347,257 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,101,054 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,975 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137 |
G |
C |
19: 6,916,491 (GRCm39) |
D253E |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,343,652 (GRCm39) |
D116V |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,151,554 (GRCm39) |
|
probably benign |
Het |
| Havcr1 |
A |
G |
11: 46,647,051 (GRCm39) |
T162A |
possibly damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,386 (GRCm39) |
T142S |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,409 (GRCm39) |
Y602* |
probably null |
Het |
| Il18 |
T |
A |
9: 50,490,575 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
C |
9: 21,309,266 (GRCm39) |
V474A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,476,664 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,125,575 (GRCm39) |
T542A |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,868 (GRCm39) |
Y714H |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,077,997 (GRCm39) |
C162* |
probably null |
Het |
| Kcp |
T |
C |
6: 29,496,926 (GRCm39) |
H561R |
possibly damaging |
Het |
| Krt23 |
G |
T |
11: 99,376,613 (GRCm39) |
T181N |
probably benign |
Het |
| Lrrc40 |
A |
T |
3: 157,746,108 (GRCm39) |
D61V |
probably damaging |
Het |
| Lypd4 |
T |
A |
7: 24,564,691 (GRCm39) |
H149L |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,473,058 (GRCm39) |
F953L |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,972,982 (GRCm39) |
P405S |
probably damaging |
Het |
| Mfsd2a |
G |
A |
4: 122,845,632 (GRCm39) |
T173I |
possibly damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,957 (GRCm39) |
G226E |
probably damaging |
Het |
| Nudt15 |
T |
C |
14: 73,760,824 (GRCm39) |
Y89C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,459 (GRCm39) |
S118T |
possibly damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,109 (GRCm39) |
M137K |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,808 (GRCm39) |
M68K |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,806,267 (GRCm39) |
S261R |
probably damaging |
Het |
| Phf24 |
A |
C |
4: 42,933,891 (GRCm39) |
E91A |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,618,165 (GRCm39) |
N17I |
possibly damaging |
Het |
| Por |
C |
T |
5: 135,761,438 (GRCm39) |
S308L |
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,688,837 (GRCm39) |
K178* |
probably null |
Het |
| Rev3l |
A |
G |
10: 39,693,282 (GRCm39) |
N454S |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,539,009 (GRCm39) |
V309A |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 137,995,112 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
G |
A |
17: 74,730,198 (GRCm39) |
V363I |
probably benign |
Het |
| Snf8 |
G |
A |
11: 95,930,125 (GRCm39) |
M42I |
probably benign |
Het |
| Stom |
T |
C |
2: 35,215,371 (GRCm39) |
I65V |
probably benign |
Het |
| Tacr3 |
C |
T |
3: 134,637,989 (GRCm39) |
T382I |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,010 (GRCm39) |
V2540A |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,816 (GRCm39) |
T314A |
possibly damaging |
Het |
| Ube4a |
T |
C |
9: 44,856,099 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,589,015 (GRCm39) |
H1060R |
possibly damaging |
Het |
| Virma |
A |
T |
4: 11,528,626 (GRCm39) |
K1288* |
probably null |
Het |
| Vmn2r100 |
A |
C |
17: 19,751,582 (GRCm39) |
I542L |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,806 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,245,018 (GRCm39) |
I797T |
possibly damaging |
Het |
| Zfp74 |
C |
T |
7: 29,653,466 (GRCm39) |
|
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,717,872 (GRCm39) |
L89Q |
probably damaging |
Het |
|
| Other mutations in Tyk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CTTCAGGAGACACGGTGATGGAAC -3'
(R):5'- TCAACACAATGGTCCCAGGCAG -3'
Sequencing Primer
(F):5'- CACGGTGATGGAACAGCAAC -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation