Incidental Mutation 'R5014:Tyk2'
| ID |
512175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
042605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5014 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 21027126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000214454
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216874
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.7%
|
| Validation Efficiency |
97% (83/86) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,896 (GRCm39) |
T1353A |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,840,957 (GRCm39) |
I1072N |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,438 (GRCm39) |
T517A |
probably benign |
Het |
| Blk |
T |
G |
14: 63,617,236 (GRCm39) |
N257T |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,417,372 (GRCm39) |
|
probably benign |
Het |
| Calr4 |
C |
T |
4: 109,092,994 (GRCm39) |
Q25* |
probably null |
Het |
| Cbl |
T |
C |
9: 44,065,696 (GRCm39) |
|
probably null |
Het |
| Ccdc30 |
T |
G |
4: 119,250,824 (GRCm39) |
H6P |
possibly damaging |
Het |
| Cd101 |
A |
C |
3: 100,911,139 (GRCm39) |
Y840D |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,556,165 (GRCm39) |
N178Y |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,803,952 (GRCm39) |
T1044A |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,207,291 (GRCm39) |
V1876A |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,925,765 (GRCm39) |
M58K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,793 (GRCm39) |
E860G |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,794 (GRCm39) |
|
probably null |
Het |
| Cul7 |
A |
G |
17: 46,966,868 (GRCm39) |
*650W |
probably null |
Het |
| Dkk4 |
C |
T |
8: 23,115,315 (GRCm39) |
A55V |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,128,992 (GRCm39) |
E407G |
probably damaging |
Het |
| Dnase1 |
C |
A |
16: 3,856,880 (GRCm39) |
Y170* |
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,823,550 (GRCm39) |
I1019S |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,486,942 (GRCm39) |
H1035L |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,177,776 (GRCm39) |
T408A |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,998,414 (GRCm39) |
E305G |
probably damaging |
Het |
| Garin1b |
C |
T |
6: 29,326,723 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
A |
11: 77,389,821 (GRCm39) |
V28E |
probably damaging |
Het |
| Gm10010 |
C |
T |
6: 128,177,556 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
T |
C |
1: 21,363,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
T |
G |
19: 4,193,506 (GRCm39) |
V349G |
probably benign |
Het |
| Gtsf1l |
C |
T |
2: 162,929,112 (GRCm39) |
V124I |
probably damaging |
Het |
| Gucy1b1 |
C |
G |
3: 81,953,974 (GRCm39) |
G114A |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,720,936 (GRCm39) |
Q166R |
possibly damaging |
Het |
| Hook2 |
A |
G |
8: 85,718,006 (GRCm39) |
I44M |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,541,921 (GRCm39) |
M222K |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,997,640 (GRCm39) |
F55Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 191,959,388 (GRCm39) |
N314S |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,746,748 (GRCm39) |
F748L |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,826,407 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
A |
T |
17: 88,025,004 (GRCm39) |
K627N |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,251,534 (GRCm39) |
Q219R |
probably damaging |
Het |
| Ndufb3 |
T |
A |
1: 58,630,401 (GRCm39) |
W51R |
probably damaging |
Het |
| Nfasc |
A |
T |
1: 132,512,185 (GRCm39) |
|
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,912 (GRCm39) |
I25N |
probably benign |
Het |
| Or2h2 |
T |
A |
17: 37,396,446 (GRCm39) |
I204F |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,857 (GRCm39) |
V222A |
possibly damaging |
Het |
| P3h3 |
T |
A |
6: 124,832,199 (GRCm39) |
E229V |
probably damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,701,224 (GRCm39) |
L837* |
probably null |
Het |
| Ppp2r1a |
G |
A |
17: 21,179,101 (GRCm39) |
|
probably null |
Het |
| Rabgap1 |
T |
A |
2: 37,377,152 (GRCm39) |
V328E |
probably damaging |
Het |
| Ralgapb |
G |
A |
2: 158,337,455 (GRCm39) |
R1138Q |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,299,942 (GRCm39) |
Q498L |
probably benign |
Het |
| Rbx1 |
T |
A |
15: 81,355,161 (GRCm39) |
C56S |
probably damaging |
Het |
| Rcan2 |
T |
C |
17: 44,328,704 (GRCm39) |
F45S |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,980,770 (GRCm39) |
Y185C |
probably damaging |
Het |
| Rorc |
T |
G |
3: 94,298,460 (GRCm39) |
L315R |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,401 (GRCm39) |
V194A |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,290,987 (GRCm39) |
K406E |
possibly damaging |
Het |
| Slc35g3 |
T |
A |
11: 69,651,866 (GRCm39) |
K62* |
probably null |
Het |
| Sox30 |
T |
C |
11: 45,882,736 (GRCm39) |
S589P |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,346,102 (GRCm39) |
C1362* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,284,538 (GRCm39) |
C849Y |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,950,518 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,384,043 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
C |
A |
1: 57,446,004 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,828 (GRCm39) |
T761A |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,822,897 (GRCm39) |
C1401S |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,340 (GRCm39) |
N391D |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,061,523 (GRCm39) |
E475K |
unknown |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,142,594 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp990 |
T |
A |
4: 145,264,669 (GRCm39) |
C556S |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,951,892 (GRCm39) |
P189L |
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 |
|
|
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 |
2018-04-10 |
Incidental Mutation