Incidental Mutation 'R7298:Tyk2'
| ID |
566806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
045402-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7298 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21020156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1001
(V1001I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001036
AA Change: V1001I
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V1001I
| 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 benign
Transcript: ENSMUST00000214454
AA Change: V978I
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: V1001I
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (52/54) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,106 (GRCm39) |
T51S |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,214,336 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acaa1b |
C |
T |
9: 118,980,915 (GRCm39) |
E172K |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,806 (GRCm39) |
T117I |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,474,275 (GRCm39) |
E52G |
possibly damaging |
Het |
| Alg9 |
C |
T |
9: 50,690,361 (GRCm39) |
A121V |
probably damaging |
Het |
| Atf7ip2 |
T |
C |
16: 10,027,032 (GRCm39) |
I100T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,750,165 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
A |
T |
16: 44,301,775 (GRCm39) |
M1838L |
probably benign |
Het |
| Cym |
A |
G |
3: 107,127,009 (GRCm39) |
Y49H |
probably benign |
Het |
| Dchs1 |
G |
A |
7: 105,404,338 (GRCm39) |
R2735* |
probably null |
Het |
| Dnajc6 |
T |
C |
4: 101,463,808 (GRCm39) |
I187T |
probably benign |
Het |
| Fam151a |
G |
T |
4: 106,592,725 (GRCm39) |
R69L |
possibly damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
C |
A |
14: 101,966,961 (GRCm39) |
G97V |
unknown |
Het |
| Hacl1 |
A |
T |
14: 31,338,443 (GRCm39) |
M378K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-82 |
A |
T |
12: 115,916,574 (GRCm39) |
I6N |
possibly damaging |
Het |
| Kctd19 |
A |
C |
8: 106,109,616 (GRCm39) |
V942G |
probably benign |
Het |
| Lce1l |
C |
T |
3: 92,757,483 (GRCm39) |
C125Y |
unknown |
Het |
| Mmp8 |
T |
C |
9: 7,560,449 (GRCm39) |
F42S |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,148,411 (GRCm39) |
L529P |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,268,759 (GRCm39) |
Y548N |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,865 (GRCm39) |
F59S |
probably damaging |
Het |
| Or6aa1 |
T |
A |
7: 86,044,131 (GRCm39) |
T192S |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,545,614 (GRCm39) |
I514F |
probably damaging |
Het |
| Pira12 |
T |
A |
7: 3,898,264 (GRCm39) |
I353F |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,623,458 (GRCm39) |
S603* |
probably null |
Het |
| Ppa1 |
T |
A |
10: 61,502,691 (GRCm39) |
D171E |
probably benign |
Het |
| Pramel23 |
C |
A |
4: 143,425,075 (GRCm39) |
D123Y |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,737 (GRCm39) |
C240R |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,285,016 (GRCm39) |
D714G |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,633,936 (GRCm39) |
F157L |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,600,417 (GRCm39) |
K1475E |
unknown |
Het |
| Retnlg |
A |
G |
16: 48,693,237 (GRCm39) |
N5D |
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,092,185 (GRCm39) |
T1245A |
probably damaging |
Het |
| Rngtt |
G |
T |
4: 33,362,927 (GRCm39) |
L360F |
probably damaging |
Het |
| Scrib |
A |
C |
15: 75,936,610 (GRCm39) |
V447G |
probably damaging |
Het |
| Slc22a6 |
C |
A |
19: 8,598,684 (GRCm39) |
A247E |
possibly damaging |
Het |
| Slc25a20 |
G |
A |
9: 108,539,343 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
T |
A |
1: 69,958,585 (GRCm39) |
|
probably null |
Het |
| Stx3 |
C |
T |
19: 11,767,412 (GRCm39) |
W87* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,181,961 (GRCm39) |
M1158K |
possibly damaging |
Het |
| Tmed9 |
C |
A |
13: 55,741,107 (GRCm39) |
H41N |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
G |
A |
14: 53,887,242 (GRCm39) |
S54N |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,709,065 (GRCm39) |
V15A |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,065,949 (GRCm39) |
E661G |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,449,979 (GRCm39) |
I75N |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,278,416 (GRCm39) |
V258G |
probably damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,513 (GRCm39) |
K188N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,377,299 (GRCm39) |
S848* |
probably null |
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 |
|
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 |
|
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'- TCCTATGGAAACTGTAGGGATTAAGG -3'
(R):5'- TACCACAGCAACAGGGTTCC -3'
Sequencing Primer
(F):5'- TGTGTCCAGGTGACCAGG -3'
(R):5'- TCCACGTGGGTCATAGGACATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation