Incidental Mutation 'R8934:Tyk2'
| ID |
711107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
068777-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 21038416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000214864]
[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 |
probably benign
Transcript: ENSMUST00000214454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,429,661 (GRCm39) |
Y87H |
probably damaging |
Het |
| Adad2 |
G |
A |
8: 120,341,535 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,300,015 (GRCm39) |
T901A |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,463,510 (GRCm39) |
I779F |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,944 (GRCm39) |
T1457A |
probably benign |
Het |
| Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
| C4b |
G |
A |
17: 34,951,958 (GRCm39) |
R1296C |
possibly damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,402 (GRCm39) |
L206Q |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,690 (GRCm39) |
T87A |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,491,695 (GRCm39) |
N376K |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,786 (GRCm39) |
I120K |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,420,217 (GRCm39) |
E384G |
possibly damaging |
Het |
| Dipk1b |
G |
A |
2: 26,524,866 (GRCm39) |
V89M |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,450,288 (GRCm39) |
S634P |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,639 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,738 (GRCm39) |
R185H |
probably damaging |
Het |
| Epdr1 |
T |
C |
13: 19,777,350 (GRCm39) |
E216G |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,101 (GRCm39) |
H86R |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,553 (GRCm39) |
W99R |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,433,909 (GRCm39) |
C27G |
probably damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,469,469 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,407 (GRCm39) |
*758W |
probably null |
Het |
| Il1rap |
T |
C |
16: 26,495,734 (GRCm39) |
C114R |
probably damaging |
Het |
| Irf6 |
T |
C |
1: 192,845,033 (GRCm39) |
I168T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,759,767 (GRCm39) |
I1164V |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,021,168 (GRCm39) |
L915P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,273,909 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
C |
A |
2: 26,092,258 (GRCm39) |
R211L |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,882,062 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,334,386 (GRCm39) |
S1297P |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,306,852 (GRCm39) |
T232S |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,688,868 (GRCm39) |
F377L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,889,085 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
A |
2: 90,112,356 (GRCm39) |
T188S |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,290 (GRCm39) |
V202A |
probably benign |
Het |
| Pgbd5 |
A |
C |
8: 125,110,998 (GRCm39) |
V231G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,606,666 (GRCm39) |
L240P |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,462,234 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
T |
A |
1: 191,100,835 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,345 (GRCm39) |
L462F |
possibly damaging |
Het |
| Prss30 |
C |
T |
17: 24,192,628 (GRCm39) |
C147Y |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,546,297 (GRCm39) |
V318M |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,599,730 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,303,219 (GRCm39) |
Q184R |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,298,705 (GRCm39) |
Q362L |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,327 (GRCm39) |
K274E |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,089,584 (GRCm39) |
I778K |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,745,338 (GRCm39) |
L22F |
possibly damaging |
Het |
| St7l |
A |
G |
3: 104,796,634 (GRCm39) |
E249G |
probably damaging |
Het |
| Tmem237 |
T |
C |
1: 59,153,338 (GRCm39) |
N61S |
probably benign |
Het |
| Ubtf |
G |
T |
11: 102,204,855 (GRCm39) |
P115T |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,188 (GRCm39) |
I508F |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,714 (GRCm39) |
C502S |
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 |
|
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 |
|
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'- GCCTCATGGTGTTAGTAACTTGAC -3'
(R):5'- CATCTTGGAAGACAGCAAGGC -3'
Sequencing Primer
(F):5'- CAGATCCCCTGGAATTGGAGTTAC -3'
(R):5'- CTTGGAAGACAGCAAGGCAGATG -3'
|
| Posted On |
2022-04-27 |
Incidental Mutation