Incidental Mutation 'R7216:Tyk2'
| ID |
561476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
045288-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21031822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 418
(H418N)
|
| 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
AA Change: H418N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: H418N
| 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 |
possibly damaging
Transcript: ENSMUST00000214454
AA Change: H395N
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: H418N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,240 (GRCm39) |
N1551K |
probably benign |
Het |
| Amy2a1 |
T |
C |
3: 113,324,090 (GRCm39) |
D150G |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,822,839 (GRCm39) |
C165S |
probably benign |
Het |
| Atp2c1 |
A |
T |
9: 105,344,930 (GRCm39) |
D102E |
probably benign |
Het |
| Capn8 |
C |
A |
1: 182,426,363 (GRCm39) |
R233S |
possibly damaging |
Het |
| Cd48 |
T |
C |
1: 171,523,390 (GRCm39) |
S78P |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,475,648 (GRCm39) |
D944E |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,531,771 (GRCm39) |
M678T |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,672,205 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,694 (GRCm39) |
V356D |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,862,535 (GRCm39) |
D101E |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,928 (GRCm39) |
P229S |
unknown |
Het |
| Dgke |
T |
C |
11: 88,941,163 (GRCm39) |
D340G |
probably benign |
Het |
| Dlg1 |
TAAA |
TAA |
16: 31,615,736 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,186,706 (GRCm39) |
Q1865* |
probably null |
Het |
| Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,771,375 (GRCm39) |
K2633N |
possibly damaging |
Het |
| Egln2 |
T |
C |
7: 26,859,254 (GRCm39) |
D365G |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,421,621 (GRCm39) |
D287G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,945,192 (GRCm39) |
T1362A |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,525,508 (GRCm39) |
T685A |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,887,173 (GRCm39) |
Y2652H |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,005 (GRCm39) |
E52G |
possibly damaging |
Het |
| Gm5093 |
A |
T |
17: 46,751,014 (GRCm39) |
D4E |
not run |
Het |
| Gm6370 |
A |
T |
5: 146,430,723 (GRCm39) |
T303S |
probably benign |
Het |
| Gpr161 |
A |
G |
1: 165,134,115 (GRCm39) |
I126V |
probably benign |
Het |
| Gpr63 |
T |
C |
4: 25,008,038 (GRCm39) |
L254P |
probably damaging |
Het |
| H2-M9 |
C |
T |
17: 36,951,594 (GRCm39) |
V294I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,253,034 (GRCm39) |
N375I |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,754,739 (GRCm39) |
N600S |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,274,809 (GRCm39) |
N628S |
probably damaging |
Het |
| Irf2 |
A |
G |
8: 47,246,591 (GRCm39) |
T20A |
probably benign |
Het |
| Irs1 |
T |
A |
1: 82,267,476 (GRCm39) |
T247S |
probably damaging |
Het |
| Islr |
C |
T |
9: 58,064,250 (GRCm39) |
S419N |
unknown |
Het |
| Kcna2 |
T |
A |
3: 107,012,109 (GRCm39) |
I230N |
probably damaging |
Het |
| Kif3c |
C |
A |
12: 3,416,126 (GRCm39) |
A49E |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,623,558 (GRCm39) |
K108N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,563,057 (GRCm39) |
F527I |
probably damaging |
Het |
| Layn |
A |
G |
9: 50,988,352 (GRCm39) |
|
probably benign |
Het |
| Lims2 |
G |
T |
18: 32,090,315 (GRCm39) |
W276L |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,179 (GRCm39) |
L133S |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,974,211 (GRCm39) |
V536G |
probably damaging |
Het |
| Med7 |
T |
A |
11: 46,331,681 (GRCm39) |
L92H |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,234,042 (GRCm39) |
V48A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,860,290 (GRCm39) |
R1650G |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,801,088 (GRCm39) |
V1153E |
probably damaging |
Het |
| Nkx2-1 |
A |
C |
12: 56,581,587 (GRCm39) |
C87G |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,000 (GRCm39) |
S291P |
probably damaging |
Het |
| Or10n1 |
A |
T |
9: 39,525,790 (GRCm39) |
Q309L |
probably benign |
Het |
| Or13a18 |
A |
T |
7: 140,190,373 (GRCm39) |
N90I |
possibly damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,550 (GRCm39) |
I112F |
probably damaging |
Het |
| Or4e1 |
G |
A |
14: 52,700,945 (GRCm39) |
P174S |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,632 (GRCm39) |
M237K |
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,844,006 (GRCm39) |
R70H |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,767,379 (GRCm39) |
Y331C |
possibly damaging |
Het |
| Pirb |
T |
A |
7: 3,719,273 (GRCm39) |
T539S |
probably benign |
Het |
| Plch2 |
T |
G |
4: 155,068,685 (GRCm39) |
T1314P |
probably benign |
Het |
| Polk |
T |
C |
13: 96,644,728 (GRCm39) |
S133G |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,578,399 (GRCm39) |
I220V |
probably damaging |
Het |
| Prdm5 |
A |
T |
6: 65,904,967 (GRCm39) |
K533* |
probably null |
Het |
| Prmt1 |
T |
A |
7: 44,632,997 (GRCm39) |
Q35H |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,625 (GRCm39) |
W142R |
probably damaging |
Het |
| Rest |
G |
A |
5: 77,430,455 (GRCm39) |
R958H |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,855,886 (GRCm39) |
G109R |
probably damaging |
Het |
| Sec62 |
C |
T |
3: 30,872,978 (GRCm39) |
Q354* |
probably null |
Het |
| Snx14 |
T |
C |
9: 88,263,844 (GRCm39) |
Y847C |
probably damaging |
Het |
| Sox7 |
A |
T |
14: 64,185,438 (GRCm39) |
D158V |
probably benign |
Het |
| Spag8 |
A |
G |
4: 43,652,034 (GRCm39) |
V350A |
possibly damaging |
Het |
| Syngr1 |
A |
T |
15: 79,995,934 (GRCm39) |
I158F |
probably damaging |
Het |
| Tacstd2 |
C |
A |
6: 67,511,979 (GRCm39) |
V238L |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,063,014 (GRCm39) |
S815P |
possibly damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,793 (GRCm39) |
T110S |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,718 (GRCm39) |
I836T |
probably benign |
Het |
| Trim30b |
C |
A |
7: 104,006,569 (GRCm39) |
V96L |
probably benign |
Het |
| Tssk3 |
TGCTATCATGGGG |
TG |
4: 129,383,106 (GRCm39) |
|
probably null |
Het |
| Uap1 |
G |
T |
1: 169,986,472 (GRCm39) |
T170K |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,606 (GRCm39) |
V141A |
not run |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,647 (GRCm39) |
I187K |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,492,859 (GRCm39) |
V317M |
probably damaging |
Het |
| Wnt8b |
A |
G |
19: 44,500,511 (GRCm39) |
K366R |
probably benign |
Het |
| Zfp207 |
C |
T |
11: 80,286,004 (GRCm39) |
P415L |
unknown |
Het |
| Zfp263 |
A |
G |
16: 3,562,435 (GRCm39) |
E66G |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,667,913 (GRCm39) |
H260Q |
probably damaging |
Het |
| Zmiz1 |
GCC |
GC |
14: 25,576,624 (GRCm39) |
|
probably null |
Het |
| Zmiz1 |
A |
G |
14: 25,576,633 (GRCm39) |
R47G |
probably damaging |
Het |
| Zmiz1 |
A |
C |
14: 25,576,631 (GRCm39) |
Q46P |
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 |
|
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'- CACAGATAGTGGCTGGAGTCAG -3'
(R):5'- CAACCCCACTTTGGTGTTTAG -3'
Sequencing Primer
(F):5'- CTGGAGTCAGCAGTCAAGC -3'
(R):5'- AACCCCACTTTGGTGTTTAGGAATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation