Incidental Mutation 'R5305:Tyk2'
| ID |
404507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
042888-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21020677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 918
(D918G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001036
AA Change: D941G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: D941G
| 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 damaging
Transcript: ENSMUST00000214454
AA Change: D918G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: D941G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.4036 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
| Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
| Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,336,533 (GRCm39) |
V787A |
probably benign |
Het |
| Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
| Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
| Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,885,501 (GRCm39) |
S35T |
probably damaging |
Het |
| Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
| Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
| Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
| Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
| Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Mgat4c |
T |
A |
10: 102,225,140 (GRCm39) |
F451L |
possibly damaging |
Het |
| Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,365 (GRCm39) |
T465A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
| Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
| Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
| Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
| Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
| Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
| Sry |
T |
A |
Y: 2,662,982 (GRCm39) |
D226V |
unknown |
Het |
| Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
| Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
| Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
| Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
| Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
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 |
|
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 |
|
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'- TCCAGAGGGAACAGCCATAC -3'
(R):5'- GCTGGTTTGGAGAACTGCAG -3'
Sequencing Primer
(F):5'- TACCCACACACCATGGCAGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation