Incidental Mutation 'R2137:Tyk2'
ID |
266087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tyk2
|
Ensembl Gene |
ENSMUSG00000032175 |
Gene Name |
tyrosine kinase 2 |
Synonyms |
JTK1 |
MMRRC Submission |
040140-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2137 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 21022281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
AlphaFold |
Q9R117 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001036
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175
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 benign
Transcript: ENSMUST00000001036
|
SMART Domains |
Protein: ENSMUSP00000001036 Gene: ENSMUSG00000032175
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (60/62) |
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 |
Ankrd24 |
C |
T |
10: 81,482,143 (GRCm39) |
T88I |
probably damaging |
Het |
Atm |
A |
T |
9: 53,364,675 (GRCm39) |
V49D |
probably damaging |
Het |
Bub1b |
G |
T |
2: 118,467,199 (GRCm39) |
E841* |
probably null |
Het |
Cdh20 |
A |
T |
1: 110,027,836 (GRCm39) |
N527I |
probably damaging |
Het |
Cdh22 |
G |
A |
2: 164,958,314 (GRCm39) |
|
probably benign |
Het |
Cog1 |
T |
C |
11: 113,550,127 (GRCm39) |
L262P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,878,797 (GRCm39) |
H120R |
possibly damaging |
Het |
Col4a2 |
T |
C |
8: 11,483,749 (GRCm39) |
S890P |
probably benign |
Het |
Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
Evpl |
T |
C |
11: 116,112,665 (GRCm39) |
E1675G |
probably damaging |
Het |
Faiml |
G |
A |
9: 99,114,545 (GRCm39) |
P115S |
probably benign |
Het |
Fgg |
A |
T |
3: 82,915,745 (GRCm39) |
D62V |
possibly damaging |
Het |
Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
Galntl6 |
C |
T |
8: 58,988,939 (GRCm39) |
|
probably null |
Het |
Glyr1 |
T |
C |
16: 4,836,346 (GRCm39) |
Y501C |
probably benign |
Het |
Gm9847 |
G |
T |
12: 14,545,082 (GRCm39) |
|
noncoding transcript |
Het |
Gria4 |
T |
G |
9: 4,427,026 (GRCm39) |
|
probably benign |
Het |
Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
Il6st |
C |
A |
13: 112,639,392 (GRCm39) |
H606N |
possibly damaging |
Het |
Itprid1 |
A |
G |
6: 55,866,174 (GRCm39) |
Q189R |
probably damaging |
Het |
Kctd10 |
A |
G |
5: 114,505,389 (GRCm39) |
F202L |
probably damaging |
Het |
Kif17 |
T |
A |
4: 137,989,978 (GRCm39) |
D55E |
probably damaging |
Het |
Klf1 |
C |
T |
8: 85,629,775 (GRCm39) |
A200V |
possibly damaging |
Het |
Klhl32 |
A |
T |
4: 24,629,275 (GRCm39) |
Y497* |
probably null |
Het |
Kng2 |
G |
T |
16: 22,816,076 (GRCm39) |
|
probably benign |
Het |
Lats1 |
T |
C |
10: 7,577,611 (GRCm39) |
V245A |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
Mss51 |
T |
C |
14: 20,537,591 (GRCm39) |
I47V |
probably benign |
Het |
Myoz2 |
G |
A |
3: 122,827,861 (GRCm39) |
T19M |
probably benign |
Het |
Nampt |
T |
A |
12: 32,880,309 (GRCm39) |
N67K |
probably benign |
Het |
Ncor2 |
A |
T |
5: 125,107,776 (GRCm39) |
I1607K |
probably damaging |
Het |
Nudt4 |
T |
C |
10: 95,399,600 (GRCm39) |
Q7R |
probably damaging |
Het |
Or5b119 |
A |
G |
19: 13,457,173 (GRCm39) |
Y130H |
probably damaging |
Het |
Or5b121 |
T |
A |
19: 13,507,802 (GRCm39) |
I255N |
probably damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
Pgm2 |
A |
T |
5: 64,273,709 (GRCm39) |
M565L |
probably benign |
Het |
Phactr1 |
T |
G |
13: 43,288,651 (GRCm39) |
F639V |
possibly damaging |
Het |
Plod3 |
C |
A |
5: 137,017,571 (GRCm39) |
R165S |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,468,193 (GRCm39) |
N164K |
probably benign |
Het |
Rcbtb2 |
G |
A |
14: 73,399,491 (GRCm39) |
G52S |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,468,382 (GRCm39) |
|
probably null |
Het |
Rheb |
A |
G |
5: 25,012,601 (GRCm39) |
|
probably null |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Ripor2 |
G |
A |
13: 24,905,817 (GRCm39) |
|
probably null |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Scg3 |
A |
T |
9: 75,584,092 (GRCm39) |
D136E |
probably damaging |
Het |
Slc10a4 |
C |
T |
5: 73,164,923 (GRCm39) |
L172F |
probably damaging |
Het |
Slc35c2 |
A |
G |
2: 165,123,299 (GRCm39) |
Y113H |
probably damaging |
Het |
Slc47a1 |
T |
A |
11: 61,235,318 (GRCm39) |
D505V |
probably benign |
Het |
Snap29 |
C |
A |
16: 17,246,113 (GRCm39) |
D244E |
possibly damaging |
Het |
Taar1 |
T |
C |
10: 23,797,168 (GRCm39) |
F289L |
probably benign |
Het |
Thbs2 |
T |
A |
17: 14,893,568 (GRCm39) |
N871Y |
probably damaging |
Het |
Tmem108 |
T |
A |
9: 103,377,162 (GRCm39) |
T96S |
possibly damaging |
Het |
Tnk2 |
G |
T |
16: 32,489,620 (GRCm39) |
|
probably null |
Het |
Trak1 |
T |
A |
9: 121,302,028 (GRCm39) |
M928K |
possibly damaging |
Het |
Tuba3b |
A |
G |
6: 145,564,559 (GRCm39) |
I110V |
probably benign |
Het |
Ugt1a9 |
T |
A |
1: 87,998,759 (GRCm39) |
C70S |
probably benign |
Het |
Vmn2r10 |
A |
T |
5: 109,151,410 (GRCm39) |
I68K |
possibly damaging |
Het |
Wfs1 |
T |
C |
5: 37,124,845 (GRCm39) |
E682G |
probably damaging |
Het |
Zfp213 |
T |
C |
17: 23,778,481 (GRCm39) |
|
probably null |
Het |
Zfp809 |
T |
C |
9: 22,146,434 (GRCm39) |
V41A |
probably benign |
Het |
Zfp831 |
A |
G |
2: 174,547,539 (GRCm39) |
K1574R |
possibly 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 |
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 |
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 |
|
Posted On |
2015-02-05 |