Incidental Mutation 'R1871:Tyk2'
| ID |
210745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
039893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1871 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21032737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 342
(V342E)
|
| 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: V342E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V342E
| 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: V319E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214864
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: V342E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.3805 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| Validation Efficiency |
97% (87/90) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,415,699 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
| Abce1 |
G |
A |
8: 80,411,897 (GRCm39) |
Q588* |
probably null |
Het |
| Acads |
A |
T |
5: 115,255,701 (GRCm39) |
C45S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
| Ano4 |
T |
A |
10: 88,828,889 (GRCm39) |
I517F |
probably damaging |
Het |
| Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
| Blk |
A |
T |
14: 63,613,364 (GRCm39) |
S381R |
possibly damaging |
Het |
| Capn15 |
C |
A |
17: 26,183,203 (GRCm39) |
W426L |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,176 (GRCm39) |
T999A |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
| Crp |
T |
A |
1: 172,526,172 (GRCm39) |
W86R |
possibly damaging |
Het |
| Ctnnal1 |
G |
A |
4: 56,812,534 (GRCm39) |
L705F |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,853,639 (GRCm39) |
D441G |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
| Eef1g |
A |
T |
19: 8,955,330 (GRCm39) |
D393V |
possibly damaging |
Het |
| Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,322,183 (GRCm39) |
I538N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,221 (GRCm39) |
S2958T |
possibly damaging |
Het |
| Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
| Gm10287 |
G |
T |
3: 148,930,373 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,674,498 (GRCm39) |
D460G |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,820,426 (GRCm39) |
D641G |
probably damaging |
Het |
| Heph |
C |
A |
X: 95,542,690 (GRCm39) |
S561Y |
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,200,257 (GRCm39) |
*90W |
probably null |
Het |
| Hp1bp3 |
C |
G |
4: 137,949,497 (GRCm39) |
P65R |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,221 (GRCm39) |
Y58F |
probably benign |
Het |
| Jrk |
T |
C |
15: 74,578,412 (GRCm39) |
D291G |
possibly damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,679 (GRCm39) |
Y60H |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,291 (GRCm39) |
Y203H |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,775,793 (GRCm39) |
V255D |
possibly damaging |
Het |
| Krt9 |
C |
T |
11: 100,081,614 (GRCm39) |
R305H |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,860,490 (GRCm39) |
N2999T |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,488,328 (GRCm39) |
L106Q |
probably damaging |
Het |
| Llph |
A |
T |
10: 120,067,141 (GRCm39) |
N86I |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,826,297 (GRCm39) |
N1601K |
probably benign |
Het |
| Mc1r |
T |
A |
8: 124,134,275 (GRCm39) |
S9R |
probably benign |
Het |
| Mfsd14a |
A |
G |
3: 116,434,969 (GRCm39) |
I249T |
probably benign |
Het |
| Mtfp1 |
G |
A |
11: 4,044,012 (GRCm39) |
R73C |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,555,540 (GRCm39) |
Q877R |
probably benign |
Het |
| Nalcn |
A |
C |
14: 123,831,965 (GRCm39) |
V103G |
possibly damaging |
Het |
| Ndst3 |
A |
T |
3: 123,355,673 (GRCm39) |
F119I |
probably damaging |
Het |
| Or8k16 |
A |
G |
2: 85,520,655 (GRCm39) |
N294S |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,902,596 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,408 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
C |
18: 37,652,200 (GRCm39) |
T223P |
probably damaging |
Het |
| Pcdhga1 |
T |
A |
18: 37,973,143 (GRCm39) |
N907K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
| Plpp6 |
T |
C |
19: 28,941,684 (GRCm39) |
F95S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,474,374 (GRCm39) |
|
probably benign |
Het |
| Qars1 |
T |
G |
9: 108,391,315 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,328,383 (GRCm39) |
I2800V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,340,955 (GRCm39) |
V3532A |
probably benign |
Het |
| Rubcnl |
T |
C |
14: 75,279,849 (GRCm39) |
S411P |
possibly damaging |
Het |
| Scn1a |
C |
A |
2: 66,148,369 (GRCm39) |
G1059W |
probably damaging |
Het |
| Sgms1 |
C |
T |
19: 32,137,282 (GRCm39) |
V95I |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
| Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
| Sorl1 |
G |
A |
9: 41,881,021 (GRCm39) |
Q2167* |
probably null |
Het |
| Stkld1 |
A |
G |
2: 26,827,985 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
C |
10: 23,967,900 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,248,472 (GRCm39) |
L1977F |
probably damaging |
Het |
| Tecta |
G |
C |
9: 42,248,636 (GRCm39) |
T1917R |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,628,544 (GRCm39) |
S1544T |
probably benign |
Het |
| Tpx2 |
T |
C |
2: 152,735,523 (GRCm39) |
I717T |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,856,235 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,549,876 (GRCm39) |
R711S |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,558,665 (GRCm39) |
D3631E |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,642,028 (GRCm39) |
T2200A |
probably benign |
Het |
| Wif1 |
A |
G |
10: 120,920,824 (GRCm39) |
I215M |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,050 (GRCm39) |
T1134A |
probably damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,235 (GRCm39) |
V367A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,412 (GRCm39) |
K119* |
probably null |
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 |
|
|
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 |
|
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'- TCTCCCACAAGTAAATGGAGGGG -3'
(R):5'- ACATCCGGCAGCACAATGTG -3'
Sequencing Primer
(F):5'- GGTAGCTCAAGTGAGCAA -3'
(R):5'- ATGGTGAAGTACTTGGCTACCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation