Incidental Mutation 'R1554:Tyk2'
| ID |
170155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
039593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1554 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21019218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1068
(V1068A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001036
AA Change: V1068A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V1068A
| 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 |
possibly damaging
Transcript: ENSMUST00000214454
AA Change: V1045A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: V1068A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,886,302 (GRCm39) |
D70E |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,055,703 (GRCm39) |
D152V |
probably damaging |
Het |
| Api5 |
T |
C |
2: 94,255,988 (GRCm39) |
D233G |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,973,998 (GRCm39) |
D1390G |
probably benign |
Het |
| Cep135 |
G |
A |
5: 76,782,060 (GRCm39) |
W893* |
probably null |
Het |
| Cgas |
A |
T |
9: 78,342,838 (GRCm39) |
S321R |
probably damaging |
Het |
| Cmtm6 |
T |
A |
9: 114,575,550 (GRCm39) |
V153D |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 118,046,234 (GRCm39) |
V1735I |
possibly damaging |
Het |
| Dnm1l |
T |
C |
16: 16,159,290 (GRCm39) |
N104S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 118,858,695 (GRCm39) |
|
probably null |
Het |
| Dtx1 |
T |
C |
5: 120,821,386 (GRCm39) |
K387R |
probably damaging |
Het |
| Ercc4 |
A |
G |
16: 12,965,486 (GRCm39) |
D706G |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,490 (GRCm39) |
N4128S |
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,655,653 (GRCm39) |
C639S |
possibly damaging |
Het |
| Grk3 |
T |
A |
5: 113,117,135 (GRCm39) |
I89L |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 28,125,852 (GRCm39) |
D91E |
probably benign |
Het |
| Havcr1 |
C |
A |
11: 46,643,334 (GRCm39) |
H85N |
probably benign |
Het |
| Il12rb1 |
G |
A |
8: 71,266,016 (GRCm39) |
|
probably null |
Het |
| Kif3a |
A |
G |
11: 53,489,154 (GRCm39) |
K117E |
probably damaging |
Het |
| Kitl |
T |
A |
10: 99,923,300 (GRCm39) |
F15L |
probably benign |
Het |
| Ktn1 |
T |
G |
14: 47,932,964 (GRCm39) |
L706R |
probably damaging |
Het |
| Lipg |
T |
C |
18: 75,081,118 (GRCm39) |
Y321C |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,122,033 (GRCm39) |
D710G |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,120,021 (GRCm39) |
N16S |
probably benign |
Het |
| Myadml2 |
A |
T |
11: 120,538,553 (GRCm39) |
L94* |
probably null |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,894,474 (GRCm39) |
I6677T |
unknown |
Het |
| Ogn |
A |
C |
13: 49,774,520 (GRCm39) |
D221A |
probably benign |
Het |
| Or8b40 |
T |
C |
9: 38,027,230 (GRCm39) |
I46T |
probably benign |
Het |
| Pard3b |
C |
A |
1: 62,677,053 (GRCm39) |
Q1195K |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,157,785 (GRCm39) |
E608G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,211,516 (GRCm39) |
D259G |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,994,453 (GRCm39) |
S526P |
probably damaging |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,209 (GRCm39) |
V156A |
probably damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,022,081 (GRCm39) |
D307E |
probably damaging |
Het |
| Rims4 |
T |
C |
2: 163,721,042 (GRCm39) |
S70G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,332,665 (GRCm39) |
F2625L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,799,525 (GRCm39) |
L334P |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,952,796 (GRCm39) |
I233V |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,791 (GRCm39) |
F283V |
possibly damaging |
Het |
| Slc25a24 |
T |
C |
3: 109,043,586 (GRCm39) |
M81T |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,484,264 (GRCm39) |
R134G |
probably damaging |
Het |
| Slc35d3 |
G |
T |
10: 19,726,483 (GRCm39) |
L96M |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,336,345 (GRCm39) |
G333D |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,146,639 (GRCm39) |
S446P |
probably benign |
Het |
| Stk38 |
T |
A |
17: 29,198,206 (GRCm39) |
N248I |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,374 (GRCm39) |
V1192A |
possibly damaging |
Het |
| Tle6 |
A |
C |
10: 81,431,219 (GRCm39) |
S221A |
probably benign |
Het |
| Tmprss11b |
G |
A |
5: 86,809,490 (GRCm39) |
T334I |
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,711 (GRCm39) |
H262R |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,711,081 (GRCm39) |
S118P |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,283,877 (GRCm39) |
I591V |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,600,599 (GRCm39) |
Y38* |
probably null |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,464 (GRCm39) |
I146N |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,126 (GRCm39) |
Y938C |
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 |
|
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 |
|
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'- CAAGTCCCTTTGGTCCTTAAGCCAC -3'
(R):5'- AGAGATTTGCGTTTGACCCTTCCC -3'
Sequencing Primer
(F):5'- TCCTTAAGCCACGCCCG -3'
(R):5'- GTTTGACCCTTCCCACAAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation