Incidental Mutation 'R5191:Tyk2'
| ID |
398164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
043263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21018793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 1099
(Q1099K)
|
| 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: Q1122K
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: Q1122K
| 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: Q1099K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: Q1122K
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.1060 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (69/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
G |
15: 101,034,946 (GRCm39) |
E235G |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,973,028 (GRCm39) |
D658G |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,327,843 (GRCm39) |
R1407G |
probably benign |
Het |
| Aknad1 |
T |
C |
3: 108,659,306 (GRCm39) |
S107P |
probably benign |
Het |
| Aknad1 |
G |
A |
3: 108,659,867 (GRCm39) |
V294I |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,718,431 (GRCm39) |
T1407A |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,867,929 (GRCm39) |
P318S |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,503,983 (GRCm39) |
V494M |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,719 (GRCm39) |
|
probably null |
Het |
| Crh |
T |
C |
3: 19,748,093 (GRCm39) |
E183G |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,791,035 (GRCm39) |
N265K |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,042,955 (GRCm39) |
A862T |
probably benign |
Het |
| Dact3 |
T |
G |
7: 16,609,375 (GRCm39) |
V9G |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,579,323 (GRCm39) |
I638N |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,739 (GRCm39) |
E2357G |
probably damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,344,810 (GRCm39) |
S38I |
probably damaging |
Het |
| Fyb2 |
G |
T |
4: 104,852,994 (GRCm39) |
C558F |
possibly damaging |
Het |
| Galnt3 |
T |
C |
2: 65,924,050 (GRCm39) |
E406G |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,332,173 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
A |
11: 97,228,975 (GRCm39) |
Q1060L |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,647,024 (GRCm39) |
I153F |
probably benign |
Het |
| Hnrnpc |
A |
T |
14: 52,314,964 (GRCm39) |
V141E |
probably damaging |
Het |
| Kcnj2 |
C |
T |
11: 110,963,297 (GRCm39) |
Q230* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,184,904 (GRCm39) |
L631P |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,630,829 (GRCm39) |
N23S |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,755 (GRCm39) |
S1104P |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,088 (GRCm39) |
D73G |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,963,942 (GRCm39) |
F454L |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,466 (GRCm39) |
I90L |
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,668 (GRCm39) |
E304G |
probably damaging |
Het |
| Mst1r |
G |
A |
9: 107,788,750 (GRCm39) |
R423H |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,412,276 (GRCm39) |
T1741A |
unknown |
Het |
| Myo1g |
C |
T |
11: 6,465,105 (GRCm39) |
A447T |
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,840 (GRCm39) |
A360S |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,349,429 (GRCm39) |
K154E |
probably damaging |
Het |
| Or12k8 |
T |
G |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or2a54 |
T |
A |
6: 43,092,800 (GRCm39) |
N41K |
probably damaging |
Het |
| Or7e166 |
G |
A |
9: 19,624,630 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,365 (GRCm39) |
E3551G |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sarm1 |
G |
A |
11: 78,387,945 (GRCm39) |
Q114* |
probably null |
Het |
| Sec31a |
T |
C |
5: 100,553,370 (GRCm39) |
E112G |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc9a2 |
G |
T |
1: 40,783,053 (GRCm39) |
R439L |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,659,608 (GRCm39) |
E1097D |
probably benign |
Het |
| Stk38 |
A |
C |
17: 29,193,344 (GRCm39) |
C362G |
probably benign |
Het |
| Stmn2 |
A |
T |
3: 8,610,635 (GRCm39) |
M40L |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,024,860 (GRCm39) |
T283S |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,775,954 (GRCm39) |
S48G |
probably damaging |
Het |
| Tlr4 |
A |
T |
4: 66,759,616 (GRCm39) |
H803L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,709,432 (GRCm39) |
|
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,203,755 (GRCm39) |
|
probably benign |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,447 (GRCm39) |
V60A |
possibly damaging |
Het |
| Zc3h12d |
C |
A |
10: 7,743,582 (GRCm39) |
P451T |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,612 (GRCm39) |
S146G |
probably benign |
Het |
| Zfp236 |
T |
A |
18: 82,639,548 (GRCm39) |
N1233I |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,119,022 (GRCm39) |
V174A |
probably damaging |
Het |
| Zswim1 |
G |
A |
2: 164,667,939 (GRCm39) |
S397N |
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 |
|
|
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'- AAGAGCCTGCCAGTTGCTATC -3'
(R):5'- AGGTCCCAACGTCCTTTCAC -3'
Sequencing Primer
(F):5'- CTTTAATCCCAGTACTCGGGAGG -3'
(R):5'- CCTGCCTGTGAACTCCCAAG -3'
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| Posted On |
2016-07-06 |
Incidental Mutation