Incidental Mutation 'R8312:Tyk2'
ID |
641454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyk2
|
Ensembl Gene |
ENSMUSG00000032175 |
Gene Name |
tyrosine kinase 2 |
Synonyms |
JTK1 |
MMRRC Submission |
067718-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8312 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21026945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 613
(T613A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
|
AlphaFold |
Q9R117 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001036
AA Change: T613A
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175 AA Change: T613A
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 |
|
Meta Mutation Damage Score |
0.1347 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
C |
12: 84,662,190 (GRCm39) |
R23G |
probably damaging |
Het |
Abraxas2 |
A |
G |
7: 132,478,329 (GRCm39) |
Y163C |
probably damaging |
Het |
Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
Agbl5 |
A |
G |
5: 31,051,850 (GRCm39) |
E556G |
probably damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Arih2 |
A |
G |
9: 108,521,473 (GRCm39) |
S2P |
probably damaging |
Het |
C87436 |
T |
A |
6: 86,434,813 (GRCm39) |
L387Q |
probably damaging |
Het |
Card9 |
A |
T |
2: 26,247,801 (GRCm39) |
Y183* |
probably null |
Het |
Cdk14 |
T |
C |
5: 4,944,141 (GRCm39) |
D394G |
probably benign |
Het |
Cep135 |
C |
T |
5: 76,784,746 (GRCm39) |
S947L |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,121 (GRCm39) |
K505E |
probably benign |
Het |
Cnot4 |
T |
A |
6: 35,000,076 (GRCm39) |
D708V |
probably damaging |
Het |
Col16a1 |
T |
A |
4: 129,948,244 (GRCm39) |
L281M |
unknown |
Het |
Col6a3 |
G |
T |
1: 90,741,412 (GRCm39) |
D673E |
possibly damaging |
Het |
Ctdnep1 |
G |
A |
11: 69,879,527 (GRCm39) |
S150N |
probably benign |
Het |
Fanca |
T |
A |
8: 123,996,549 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,736,050 (GRCm39) |
N548K |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,304,812 (GRCm39) |
M83V |
probably benign |
Het |
Gbp2b |
C |
A |
3: 142,304,815 (GRCm39) |
P84T |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,795,842 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,511,587 (GRCm39) |
|
probably benign |
Het |
Grn |
A |
C |
11: 102,327,073 (GRCm39) |
K557T |
probably damaging |
Het |
Hapln1 |
C |
T |
13: 89,749,563 (GRCm39) |
A36V |
probably benign |
Het |
Heg1 |
C |
T |
16: 33,547,045 (GRCm39) |
R635W |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,308,653 (GRCm39) |
Q298K |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,614,515 (GRCm39) |
I1297T |
probably damaging |
Het |
Hp1bp3 |
T |
A |
4: 137,950,750 (GRCm39) |
|
probably benign |
Het |
Htr4 |
C |
G |
18: 62,570,549 (GRCm39) |
F201L |
probably damaging |
Het |
Insrr |
C |
G |
3: 87,707,791 (GRCm39) |
Q78E |
possibly damaging |
Het |
Itga6 |
A |
T |
2: 71,686,297 (GRCm39) |
M1072L |
probably benign |
Het |
Kdsr |
A |
G |
1: 106,675,216 (GRCm39) |
|
probably null |
Het |
Klhl7 |
T |
C |
5: 24,339,965 (GRCm39) |
I149T |
probably damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Mag |
T |
C |
7: 30,610,894 (GRCm39) |
Y116C |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,287,683 (GRCm39) |
S131P |
probably benign |
Het |
Mlec |
C |
A |
5: 115,288,266 (GRCm39) |
|
probably null |
Het |
Mrap2 |
G |
A |
9: 87,051,712 (GRCm39) |
|
probably null |
Het |
Myo5b |
A |
G |
18: 74,867,033 (GRCm39) |
K1395E |
probably damaging |
Het |
Nipa2 |
G |
A |
7: 55,583,050 (GRCm39) |
Q232* |
probably null |
Het |
Nsd3 |
C |
T |
8: 26,153,268 (GRCm39) |
T536M |
probably damaging |
Het |
Oit3 |
T |
C |
10: 59,274,632 (GRCm39) |
N56S |
probably benign |
Het |
Or10p22 |
A |
G |
10: 128,826,347 (GRCm39) |
T189A |
probably benign |
Het |
Or13c7 |
A |
T |
4: 43,854,461 (GRCm39) |
I51F |
probably benign |
Het |
Or2m13 |
T |
C |
16: 19,225,987 (GRCm39) |
M260V |
probably benign |
Het |
Pax3 |
C |
T |
1: 78,172,006 (GRCm39) |
R68Q |
probably damaging |
Het |
Pcnx2 |
G |
T |
8: 126,489,589 (GRCm39) |
H1668Q |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,786,102 (GRCm39) |
S463G |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,485,829 (GRCm39) |
T871M |
probably damaging |
Het |
Prdx1 |
A |
G |
4: 116,556,398 (GRCm39) |
D182G |
possibly damaging |
Het |
Prkch |
T |
A |
12: 73,807,358 (GRCm39) |
F593I |
noncoding transcript |
Het |
Psrc1 |
C |
T |
3: 108,293,673 (GRCm39) |
P194L |
probably benign |
Het |
Ptp4a2 |
A |
T |
4: 129,733,427 (GRCm39) |
I18L |
probably benign |
Het |
Samd10 |
A |
T |
2: 181,238,668 (GRCm39) |
L153H |
probably damaging |
Het |
Shc3 |
T |
G |
13: 51,596,754 (GRCm39) |
H423P |
probably damaging |
Het |
Siae |
A |
T |
9: 37,557,593 (GRCm39) |
I467F |
|
Het |
Slc27a5 |
C |
T |
7: 12,725,214 (GRCm39) |
R411Q |
probably damaging |
Het |
Spata24 |
A |
G |
18: 35,793,861 (GRCm39) |
I56T |
probably benign |
Het |
Spns3 |
G |
A |
11: 72,390,534 (GRCm39) |
T407M |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,067,777 (GRCm39) |
C2068Y |
probably damaging |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,471,181 (GRCm39) |
D479G |
|
Het |
Trhde |
T |
C |
10: 114,249,192 (GRCm39) |
Y858C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,781,992 (GRCm39) |
R1057C |
unknown |
Het |
Tulp4 |
G |
T |
17: 6,257,333 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
T |
C |
5: 87,390,799 (GRCm39) |
K356R |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,841 (GRCm39) |
V159A |
noncoding transcript |
Het |
Vps35 |
A |
G |
8: 86,001,498 (GRCm39) |
V440A |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,627 (GRCm39) |
N1136S |
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 |
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'- TGGGGTCGAGAACTTTGAGC -3'
(R):5'- TTTCAGTAATGGCCCTCGGG -3'
Sequencing Primer
(F):5'- GGTCGAGAACTTTGAGCACCAC -3'
(R):5'- GCCGGTGATGACTGTTTCCC -3'
|
Posted On |
2020-07-28 |