Incidental Mutation 'R9013:Tyk2'
| ID |
685766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
068843-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21016403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1189
(L1189P)
|
| 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: L1189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: L1189P
| 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 damaging
Transcript: ENSMUST00000214454
AA Change: L1166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: L1189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8045 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
G |
T |
14: 70,394,176 (GRCm39) |
L200I |
probably damaging |
Het |
| Afap1 |
G |
A |
5: 36,133,932 (GRCm39) |
D456N |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,671,594 (GRCm39) |
D92V |
probably damaging |
Het |
| Ahi1 |
T |
C |
10: 20,883,658 (GRCm39) |
I841T |
probably benign |
Het |
| Asb1 |
T |
C |
1: 91,480,163 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
T |
1: 158,348,070 (GRCm39) |
I507F |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,910,584 (GRCm39) |
M468T |
probably benign |
Het |
| C030006K11Rik |
T |
C |
15: 76,608,004 (GRCm39) |
S5G |
probably benign |
Het |
| C9 |
A |
T |
15: 6,516,193 (GRCm39) |
D332V |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,719,266 (GRCm39) |
S423T |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,929,649 (GRCm39) |
I315V |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,228,106 (GRCm39) |
I91N |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,272,270 (GRCm39) |
I707L |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,019 (GRCm39) |
V154A |
possibly damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,890,173 (GRCm39) |
H281L |
probably benign |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,491 (GRCm39) |
C74W |
unknown |
Het |
| Dap |
G |
A |
15: 31,273,344 (GRCm39) |
G66D |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,297,566 (GRCm39) |
H370L |
probably benign |
Het |
| Dgka |
C |
A |
10: 128,566,071 (GRCm39) |
E360* |
probably null |
Het |
| Dst |
A |
G |
1: 34,217,165 (GRCm39) |
I1202V |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gpx2 |
A |
G |
12: 76,842,118 (GRCm39) |
L11P |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,789,970 (GRCm39) |
L26S |
probably damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,475,740 (GRCm39) |
K163R |
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,759,977 (GRCm39) |
L338Q |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,732,576 (GRCm39) |
S67G |
probably benign |
Het |
| Kcnc2 |
C |
T |
10: 112,107,723 (GRCm39) |
A38V |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,449,368 (GRCm39) |
Y180F |
probably damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,332 (GRCm39) |
D169G |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,761,208 (GRCm39) |
K214E |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,573,189 (GRCm39) |
V648D |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,050,931 (GRCm39) |
G607D |
probably damaging |
Het |
| Lysmd3 |
T |
A |
13: 81,817,580 (GRCm39) |
S186T |
probably damaging |
Het |
| Meis1 |
G |
T |
11: 18,966,354 (GRCm39) |
D6E |
probably benign |
Het |
| Mfsd4b2 |
T |
G |
10: 39,798,062 (GRCm39) |
T98P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,424,069 (GRCm39) |
E8193V |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,026 (GRCm39) |
T37A |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,872,745 (GRCm39) |
D112E |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,943,497 (GRCm39) |
I214T |
probably damaging |
Het |
| Omp |
A |
G |
7: 97,794,552 (GRCm39) |
M25T |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,441 (GRCm39) |
V115M |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,179 (GRCm39) |
R22W |
probably benign |
Het |
| Or13c9 |
C |
A |
4: 52,935,900 (GRCm39) |
A128S |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,471 (GRCm39) |
I102T |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,495,702 (GRCm39) |
F9S |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,874 (GRCm39) |
I197F |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,133 (GRCm39) |
E381G |
unknown |
Het |
| Pcdhga8 |
A |
G |
18: 37,858,997 (GRCm39) |
T18A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,627 (GRCm39) |
S2162P |
unknown |
Het |
| Psg25 |
T |
C |
7: 18,258,690 (GRCm39) |
I329V |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,985 (GRCm39) |
S209P |
possibly damaging |
Het |
| Ralgapb |
A |
G |
2: 158,279,060 (GRCm39) |
K397E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,618,618 (GRCm39) |
T3866S |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,652,371 (GRCm39) |
V41I |
probably benign |
Het |
| Sdf2l1 |
T |
A |
16: 16,948,630 (GRCm39) |
D136V |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,506,514 (GRCm39) |
S612T |
probably damaging |
Het |
| Snf8 |
T |
C |
11: 95,930,126 (GRCm39) |
F43L |
probably benign |
Het |
| Snta1 |
A |
T |
2: 154,245,809 (GRCm39) |
M104K |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,704,746 (GRCm39) |
M61K |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,401,588 (GRCm39) |
H246R |
possibly damaging |
Het |
| Spats2 |
T |
A |
15: 99,097,128 (GRCm39) |
D293E |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,050,174 (GRCm39) |
D1738G |
probably damaging |
Het |
| Sqstm1 |
A |
T |
11: 50,098,684 (GRCm39) |
Y89N |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,050,957 (GRCm39) |
N5K |
probably benign |
Het |
| Syne4 |
A |
G |
7: 30,017,418 (GRCm39) |
H294R |
probably damaging |
Het |
| Tbc1d7 |
A |
C |
13: 43,322,310 (GRCm39) |
F45V |
probably damaging |
Het |
| Tekt3 |
T |
A |
11: 62,974,684 (GRCm39) |
N334K |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,620 (GRCm39) |
H266R |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,851,377 (GRCm39) |
S896P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,526,046 (GRCm39) |
V66A |
possibly damaging |
Het |
| Usp34 |
T |
G |
11: 23,320,302 (GRCm39) |
V911G |
|
Het |
| Wdr53 |
C |
T |
16: 32,075,413 (GRCm39) |
A206V |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,920,981 (GRCm39) |
E1364G |
probably benign |
Het |
| Ywhag |
T |
C |
5: 135,940,217 (GRCm39) |
M126V |
probably damaging |
Het |
| Zfp383 |
C |
T |
7: 29,614,717 (GRCm39) |
P324L |
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 |
|
R8934:Tyk2
|
UTSW |
9 |
21,038,416 (GRCm39) |
splice site |
probably benign |
|
|
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'- TCTGTTCAGGTCATGGCCAG -3'
(R):5'- GTGCTTTAGAAATTCACCGAGC -3'
Sequencing Primer
(F):5'- AGGTCATGGCCAGGCTCAG -3'
(R):5'- GCTTTAGAAATTCACCGAGCTCATC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation