Incidental Mutation 'R6870:Tyk2'
ID |
536145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyk2
|
Ensembl Gene |
ENSMUSG00000032175 |
Gene Name |
tyrosine kinase 2 |
Synonyms |
JTK1 |
MMRRC Submission |
044967-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6870 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21036250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 79
(F79S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000214864]
[ENSMUST00000216874]
|
AlphaFold |
Q9R117 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001036
AA Change: F79S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175 AA Change: F79S
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: F79S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214864
AA Change: F79S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: F79S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9607 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
Validation Efficiency |
72% (39/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,020,608 (GRCm39) |
Y62C |
probably benign |
Het |
A1bg |
T |
C |
15: 60,791,564 (GRCm39) |
T291A |
probably damaging |
Het |
Abcb11 |
A |
G |
2: 69,115,642 (GRCm39) |
I574T |
possibly damaging |
Het |
Abcb5 |
T |
A |
12: 118,929,000 (GRCm39) |
Y17F |
possibly damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,478 (GRCm39) |
L516* |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,885,321 (GRCm39) |
S619P |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,347,261 (GRCm39) |
V65A |
probably benign |
Het |
Calm3 |
T |
A |
7: 16,653,568 (GRCm39) |
Q9L |
probably benign |
Het |
Cd300c2 |
C |
T |
11: 114,891,503 (GRCm39) |
D124N |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,706,390 (GRCm39) |
T958A |
probably benign |
Het |
Cemip2 |
T |
C |
19: 21,809,487 (GRCm39) |
S956P |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,671,958 (GRCm39) |
T317A |
probably benign |
Het |
Cluh |
T |
A |
11: 74,556,210 (GRCm39) |
I887K |
probably damaging |
Het |
Dag1 |
A |
T |
9: 108,086,457 (GRCm39) |
V228E |
probably damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,924,248 (GRCm39) |
|
probably null |
Het |
Dnah1 |
T |
A |
14: 30,993,018 (GRCm39) |
K2959* |
probably null |
Het |
Dnttip2 |
T |
A |
3: 122,069,457 (GRCm39) |
V224E |
probably damaging |
Het |
Drosha |
C |
T |
15: 12,907,479 (GRCm39) |
P1071L |
probably benign |
Het |
E030025P04Rik |
T |
A |
11: 109,030,993 (GRCm39) |
H84L |
unknown |
Het |
Elac2 |
A |
T |
11: 64,890,589 (GRCm39) |
S698C |
probably null |
Het |
Elf2 |
A |
T |
3: 51,201,586 (GRCm39) |
*88R |
probably null |
Het |
Fastkd1 |
T |
A |
2: 69,538,958 (GRCm39) |
I143L |
probably benign |
Het |
Fbxw10 |
C |
T |
11: 62,746,193 (GRCm39) |
R366C |
probably damaging |
Het |
Frg2f1 |
T |
C |
4: 119,388,329 (GRCm39) |
M57V |
probably benign |
Het |
Gbp4 |
T |
C |
5: 105,273,444 (GRCm39) |
S129G |
probably damaging |
Het |
Gnat2 |
A |
C |
3: 108,002,947 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
C |
A |
16: 36,738,565 (GRCm39) |
F2301L |
probably damaging |
Het |
Il18bp |
T |
C |
7: 101,666,518 (GRCm39) |
T2A |
possibly damaging |
Het |
Kpna2 |
T |
C |
11: 106,883,520 (GRCm39) |
|
probably null |
Het |
Lrrfip2 |
A |
T |
9: 111,045,187 (GRCm39) |
|
probably benign |
Het |
Map4k1 |
T |
G |
7: 28,701,096 (GRCm39) |
|
probably null |
Het |
Mcm3ap |
T |
C |
10: 76,306,049 (GRCm39) |
V54A |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,626,246 (GRCm39) |
I1112T |
probably benign |
Het |
Or8b1 |
A |
C |
9: 38,399,382 (GRCm39) |
D19A |
probably benign |
Het |
Pcdhac1 |
T |
A |
18: 37,225,140 (GRCm39) |
V651D |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,186,356 (GRCm39) |
T571A |
possibly damaging |
Het |
Phc3 |
A |
G |
3: 30,990,910 (GRCm39) |
S403P |
probably damaging |
Het |
Prl7b1 |
T |
C |
13: 27,788,516 (GRCm39) |
E113G |
probably damaging |
Het |
Psmd2 |
T |
G |
16: 20,480,593 (GRCm39) |
M744R |
probably benign |
Het |
Qrich2 |
T |
C |
11: 116,346,156 (GRCm39) |
D1556G |
probably damaging |
Het |
Septin1 |
C |
T |
7: 126,816,876 (GRCm39) |
V46M |
probably benign |
Het |
Shank2 |
C |
A |
7: 143,606,197 (GRCm39) |
Q127K |
probably damaging |
Het |
Siah1a |
A |
G |
8: 87,451,653 (GRCm39) |
V277A |
possibly damaging |
Het |
Slc4a7 |
T |
A |
14: 14,733,846 (GRCm38) |
D85E |
probably damaging |
Het |
Slc5a12 |
A |
T |
2: 110,472,155 (GRCm39) |
I526F |
probably damaging |
Het |
Svil |
T |
C |
18: 5,063,231 (GRCm39) |
V834A |
possibly damaging |
Het |
Sycp1 |
T |
A |
3: 102,842,919 (GRCm39) |
S17C |
probably damaging |
Het |
Tssk6 |
G |
A |
8: 70,355,673 (GRCm39) |
R239Q |
probably benign |
Het |
Txnrd1 |
A |
G |
10: 82,709,042 (GRCm39) |
D80G |
probably benign |
Het |
Tyrp1 |
T |
C |
4: 80,769,014 (GRCm39) |
S503P |
probably benign |
Het |
Upf1 |
A |
T |
8: 70,794,211 (GRCm39) |
C232S |
probably benign |
Het |
Zeb2 |
G |
A |
2: 44,878,922 (GRCm39) |
T1080I |
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 |
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'- TGGATACATGGGTGTGCACG -3'
(R):5'- ACATAGTCCAGTGTCCCTACC -3'
Sequencing Primer
(F):5'- TGCGCGCATGCACACAC -3'
(R):5'- CCAACCTGCAAGGAAGCTG -3'
|
Posted On |
2018-10-18 |