Incidental Mutation 'R6610:Tyk2'
ID |
525900 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyk2
|
Ensembl Gene |
ENSMUSG00000032175 |
Gene Name |
tyrosine kinase 2 |
Synonyms |
JTK1 |
MMRRC Submission |
044733-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6610 (G1)
|
Quality Score |
152.008 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21019312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1014
(Q1014K)
|
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: Q1037K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175 AA Change: Q1037K
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: Q1014K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: Q1037K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.1678 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (42/42) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
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 |
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'- TTTGGTCCTTAAGCCACGCC -3'
(R):5'- GTAGAGATTTGCGTTTGACCC -3'
Sequencing Primer
(F):5'- TGCCCCCTCCGACAATG -3'
(R):5'- GCGTTTGACCCTTCCCACAAAG -3'
|
Posted On |
2018-06-22 |