Incidental Mutation 'R1575:Tyk2'
| ID |
171105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
039613-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1575 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21026758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 620
(N620K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001036
AA Change: N643K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: N643K
| 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 benign
Transcript: ENSMUST00000214454
AA Change: N620K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: N643K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (72/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
| Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
| Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,191,713 (GRCm39) |
W422R |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
| Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
| Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,184,852 (GRCm39) |
T24A |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
| Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
| Klk14 |
A |
G |
7: 43,343,377 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
| Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
| Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
| Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
| Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
| Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
| Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
| St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,739,693 (GRCm39) |
G586V |
probably benign |
Het |
| Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,477 (GRCm39) |
W218R |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
| Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
| Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
| Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly 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 |
|
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'- GGGGAACATGCAAACCCAGCTATG -3'
(R):5'- ACCAGGATGAAATCACCCAGGTGAG -3'
Sequencing Primer
(F):5'- ATGTGTGACACCTGGCTC -3'
(R):5'- CAAGGCACAAGGACCAATGT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation