Incidental Mutation 'R4024:Tyk2'
ID |
313400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyk2
|
Ensembl Gene |
ENSMUSG00000032175 |
Gene Name |
tyrosine kinase 2 |
Synonyms |
JTK1 |
MMRRC Submission |
041612-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4024 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 21027215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 552
(L552F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
AlphaFold |
Q9R117 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001036
AA Change: L552F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175 AA Change: L552F
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: L529F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: L552F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.2436 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (58/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
A |
G |
12: 80,215,251 (GRCm39) |
Y842H |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,849,765 (GRCm39) |
|
probably benign |
Het |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
Armc2 |
A |
G |
10: 41,869,054 (GRCm39) |
S37P |
probably benign |
Het |
Bhmt2 |
G |
A |
13: 93,799,839 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
A |
T |
2: 154,054,966 (GRCm39) |
D286V |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,705,539 (GRCm38) |
E285D |
probably damaging |
Het |
Cap2 |
C |
T |
13: 46,791,317 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Cmip |
A |
G |
8: 118,174,155 (GRCm39) |
I412V |
possibly damaging |
Het |
Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,324,147 (GRCm39) |
S565G |
probably benign |
Het |
Eef2k |
A |
G |
7: 120,457,821 (GRCm39) |
Y60C |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,074 (GRCm39) |
V170A |
possibly damaging |
Het |
Foxk2 |
T |
A |
11: 121,176,439 (GRCm39) |
I195N |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gpr6 |
G |
A |
10: 40,947,264 (GRCm39) |
T106M |
probably damaging |
Het |
Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
Hnmt |
T |
C |
2: 23,893,777 (GRCm39) |
D239G |
probably benign |
Het |
Igf2 |
A |
G |
7: 142,208,044 (GRCm39) |
V111A |
probably benign |
Het |
Lrriq3 |
G |
A |
3: 154,893,939 (GRCm39) |
E547K |
probably benign |
Het |
Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
Mroh8 |
A |
G |
2: 157,098,272 (GRCm39) |
V292A |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,776 (GRCm39) |
|
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,026,154 (GRCm39) |
T195A |
probably benign |
Het |
Or10aa3 |
C |
T |
1: 173,878,683 (GRCm39) |
T248I |
probably benign |
Het |
Or2t47 |
G |
A |
11: 58,442,222 (GRCm39) |
T281I |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
Or8w1 |
T |
A |
2: 87,465,499 (GRCm39) |
L197F |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,309,207 (GRCm39) |
V233A |
probably damaging |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,605,681 (GRCm39) |
D903G |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,937,674 (GRCm39) |
D1681G |
probably damaging |
Het |
Slk |
A |
G |
19: 47,610,809 (GRCm39) |
|
probably null |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Tlr11 |
C |
T |
14: 50,600,303 (GRCm39) |
T763I |
probably benign |
Het |
Ttbk2 |
T |
C |
2: 120,590,736 (GRCm39) |
T308A |
possibly damaging |
Het |
Ubp1 |
A |
G |
9: 113,773,951 (GRCm39) |
D50G |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,873,915 (GRCm39) |
I1172N |
possibly damaging |
Het |
Usf3 |
T |
A |
16: 44,036,528 (GRCm39) |
V336E |
possibly damaging |
Het |
Vangl2 |
T |
C |
1: 171,835,608 (GRCm39) |
S355G |
probably benign |
Het |
Vmn1r216 |
A |
G |
13: 23,284,061 (GRCm39) |
D248G |
probably damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
Vsig10l |
T |
C |
7: 43,117,510 (GRCm39) |
V701A |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,071,961 (GRCm39) |
|
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,544 (GRCm39) |
C258S |
possibly damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
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'- GATTTCTAGGCACAGGAGTGGAC -3'
(R):5'- TTACCGTGGCCCATCGAAAC -3'
Sequencing Primer
(F):5'- AGTGGACATCGCCCTTGTG -3'
(R):5'- AGGGCTGGGAGGTACACC -3'
|
Posted On |
2015-04-30 |