Incidental Mutation 'IGL02407:Tyk2'
| ID |
292157 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 21020523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000214454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,645,575 (GRCm39) |
W1040* |
probably null |
Het |
| Adgrv1 |
C |
A |
13: 81,627,789 (GRCm39) |
A3691S |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,718,295 (GRCm39) |
Y345* |
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,069,823 (GRCm39) |
Y496* |
probably null |
Het |
| Ash1l |
T |
C |
3: 88,979,855 (GRCm39) |
V2793A |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,668,853 (GRCm39) |
D575E |
probably benign |
Het |
| Ceacam20 |
G |
T |
7: 19,704,332 (GRCm39) |
V128F |
probably benign |
Het |
| Cers4 |
A |
T |
8: 4,570,306 (GRCm39) |
K204* |
probably null |
Het |
| Cog1 |
T |
C |
11: 113,544,852 (GRCm39) |
Y345H |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
A |
T |
1: 24,351,453 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,388,652 (GRCm39) |
M275K |
probably damaging |
Het |
| Degs2 |
T |
G |
12: 108,658,254 (GRCm39) |
T242P |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,001 (GRCm39) |
V612A |
probably benign |
Het |
| Elovl6 |
T |
A |
3: 129,398,733 (GRCm39) |
F45I |
probably damaging |
Het |
| Exoc1 |
A |
C |
5: 76,693,193 (GRCm39) |
N360H |
probably damaging |
Het |
| Fam221b |
A |
T |
4: 43,666,309 (GRCm39) |
S101T |
possibly damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,909 (GRCm39) |
N393K |
probably damaging |
Het |
| Glyr1 |
A |
G |
16: 4,854,812 (GRCm39) |
F89L |
probably benign |
Het |
| Herc4 |
C |
A |
10: 63,142,203 (GRCm39) |
T668K |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,525,874 (GRCm39) |
V259I |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,967,983 (GRCm39) |
D397E |
probably damaging |
Het |
| Ift80 |
G |
T |
3: 68,805,869 (GRCm39) |
D724E |
probably benign |
Het |
| Igkv3-10 |
T |
C |
6: 70,550,223 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,842,678 (GRCm39) |
A75S |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,938,769 (GRCm39) |
V76M |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Lgals8 |
A |
G |
13: 12,469,699 (GRCm39) |
W87R |
probably benign |
Het |
| Mccc2 |
G |
A |
13: 100,127,816 (GRCm39) |
P96L |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,587,531 (GRCm39) |
D443A |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,321,008 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,281 (GRCm39) |
V230A |
probably benign |
Het |
| Nif3l1 |
G |
T |
1: 58,496,956 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,923 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,128 (GRCm39) |
Y169N |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,710,635 (GRCm39) |
I1529T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,279,915 (GRCm39) |
I219F |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,424,836 (GRCm39) |
R242W |
unknown |
Het |
| Prrc2a |
A |
T |
17: 35,379,480 (GRCm39) |
D255E |
unknown |
Het |
| Rapgef6 |
G |
T |
11: 54,567,181 (GRCm39) |
D1121Y |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,585,303 (GRCm39) |
H2761L |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,810,042 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,510,065 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,826,777 (GRCm39) |
S172G |
probably benign |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,821,534 (GRCm39) |
M496K |
probably damaging |
Het |
| Srgap2 |
A |
T |
1: 131,247,340 (GRCm39) |
V564D |
probably damaging |
Het |
| Stk32a |
T |
C |
18: 43,430,576 (GRCm39) |
I162T |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,378,634 (GRCm39) |
N446I |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,584 (GRCm39) |
H211Q |
probably damaging |
Het |
| Trim3 |
T |
C |
7: 105,262,218 (GRCm39) |
N586S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,868,869 (GRCm39) |
E507G |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,365,316 (GRCm39) |
K310* |
probably null |
Het |
| Unc13a |
T |
A |
8: 72,101,586 (GRCm39) |
N1022Y |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,228 (GRCm39) |
N38Y |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,770 (GRCm39) |
I161F |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,243,108 (GRCm39) |
M25T |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,323,795 (GRCm39) |
R130Q |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,802 (GRCm39) |
S724G |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation