Incidental Mutation 'R2044:Tyk2'
| ID |
221674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
040051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2044 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21104068-21131243 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21120341 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
| 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: D451G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: D451G
| 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: D428G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214864
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: D451G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7390 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
98% (92/94) |
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
G |
A |
17: 36,978,094 (GRCm38) |
|
probably benign |
Het |
| Abhd15 |
A |
G |
11: 77,518,338 (GRCm38) |
T293A |
probably benign |
Het |
| Aldh1l1 |
C |
T |
6: 90,562,665 (GRCm38) |
P192L |
probably benign |
Het |
| Aldoart1 |
T |
G |
4: 72,852,542 (GRCm38) |
I10L |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,645,113 (GRCm38) |
G1653D |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,419,364 (GRCm38) |
|
probably null |
Het |
| Astn1 |
A |
G |
1: 158,600,502 (GRCm38) |
T748A |
possibly damaging |
Het |
| Bmp7 |
C |
A |
2: 172,939,915 (GRCm38) |
R52L |
possibly damaging |
Het |
| Ccdc151 |
T |
G |
9: 21,991,858 (GRCm38) |
T419P |
possibly damaging |
Het |
| Ccdc33 |
G |
A |
9: 58,031,112 (GRCm38) |
P859S |
possibly damaging |
Het |
| Ccny |
A |
G |
18: 9,449,644 (GRCm38) |
S10P |
probably damaging |
Het |
| Cdc6 |
C |
A |
11: 98,910,461 (GRCm38) |
F179L |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 106,983,132 (GRCm38) |
V491E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,596,730 (GRCm38) |
S138R |
possibly damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,037,755 (GRCm38) |
H299R |
probably benign |
Het |
| Ciart |
A |
T |
3: 95,878,701 (GRCm38) |
M354K |
probably benign |
Het |
| Clasrp |
G |
T |
7: 19,586,715 (GRCm38) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,696,319 (GRCm38) |
G1132E |
unknown |
Het |
| Crebbp |
G |
A |
16: 4,084,823 (GRCm38) |
T2184I |
probably benign |
Het |
| Cyp2r1 |
A |
C |
7: 114,550,405 (GRCm38) |
M458R |
probably damaging |
Het |
| Cyp7a1 |
C |
A |
4: 6,275,492 (GRCm38) |
R27M |
probably null |
Het |
| Ddhd2 |
A |
G |
8: 25,752,165 (GRCm38) |
F116L |
probably damaging |
Het |
| Dgkd |
G |
A |
1: 87,927,691 (GRCm38) |
R685K |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,524,240 (GRCm38) |
S223P |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,372,679 (GRCm38) |
R353S |
possibly damaging |
Het |
| F11 |
C |
A |
8: 45,252,118 (GRCm38) |
V129F |
probably benign |
Het |
| F830045P16Rik |
A |
T |
2: 129,459,397 (GRCm38) |
S454T |
possibly damaging |
Het |
| Fam124a |
T |
C |
14: 62,587,207 (GRCm38) |
I50T |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,756,227 (GRCm38) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,226,914 (GRCm38) |
T405A |
probably benign |
Het |
| Fbxo18 |
C |
A |
2: 11,762,970 (GRCm38) |
V356L |
possibly damaging |
Het |
| Flywch1 |
G |
A |
17: 23,762,313 (GRCm38) |
Q132* |
probably null |
Het |
| Foxo6 |
T |
C |
4: 120,286,969 (GRCm38) |
D95G |
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,604,087 (GRCm38) |
F174S |
probably damaging |
Het |
| Gm7104 |
G |
A |
12: 88,285,781 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr155 |
A |
G |
2: 73,373,633 (GRCm38) |
L279P |
probably damaging |
Het |
| H2-T23 |
A |
G |
17: 36,032,191 (GRCm38) |
L98P |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,955,403 (GRCm38) |
V250A |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,241,363 (GRCm38) |
I50F |
probably damaging |
Het |
| Hist4h4 |
G |
C |
6: 136,804,103 (GRCm38) |
R93G |
possibly damaging |
Het |
| Ifitm10 |
A |
T |
7: 142,356,034 (GRCm38) |
S179R |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,199,792 (GRCm38) |
I93N |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,651,738 (GRCm38) |
|
probably benign |
Het |
| Itga10 |
G |
A |
3: 96,657,690 (GRCm38) |
V985I |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,375,154 (GRCm38) |
I144T |
probably benign |
Het |
| Klk1 |
A |
C |
7: 44,229,034 (GRCm38) |
K104T |
possibly damaging |
Het |
| Lemd3 |
C |
A |
10: 120,933,442 (GRCm38) |
R654L |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,364,387 (GRCm38) |
M327L |
probably benign |
Het |
| Lonrf2 |
T |
C |
1: 38,807,050 (GRCm38) |
E347G |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,276,432 (GRCm38) |
Y409C |
probably damaging |
Het |
| Mecom |
A |
T |
3: 29,980,592 (GRCm38) |
Y312N |
probably damaging |
Het |
| Mrgprb3 |
C |
T |
7: 48,643,734 (GRCm38) |
C23Y |
possibly damaging |
Het |
| Mut |
A |
G |
17: 40,941,451 (GRCm38) |
T295A |
probably benign |
Het |
| Nadk |
C |
A |
4: 155,585,441 (GRCm38) |
L194I |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,509,510 (GRCm38) |
I182V |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,319,687 (GRCm38) |
I1176K |
probably damaging |
Het |
| Nol4l |
C |
A |
2: 153,529,521 (GRCm38) |
R81L |
possibly damaging |
Het |
| Olfr1297 |
T |
A |
2: 111,621,814 (GRCm38) |
R87W |
probably benign |
Het |
| Olfr1411 |
G |
T |
1: 92,596,969 (GRCm38) |
R150L |
probably benign |
Het |
| Olfr957 |
A |
T |
9: 39,511,378 (GRCm38) |
M114K |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,754,940 (GRCm38) |
V642A |
probably benign |
Het |
| Pdzk1 |
G |
A |
3: 96,855,848 (GRCm38) |
|
probably benign |
Het |
| Per3 |
C |
T |
4: 151,033,938 (GRCm38) |
V233I |
probably benign |
Het |
| Pisd |
G |
A |
5: 32,764,796 (GRCm38) |
P267S |
possibly damaging |
Het |
| Prm1 |
T |
A |
16: 10,796,493 (GRCm38) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,463,095 (GRCm38) |
V548A |
probably damaging |
Het |
| Ranbp3 |
G |
A |
17: 56,673,367 (GRCm38) |
|
probably benign |
Het |
| Raver2 |
T |
A |
4: 101,102,812 (GRCm38) |
V163D |
probably damaging |
Het |
| Rbm14 |
A |
T |
19: 4,803,877 (GRCm38) |
I159N |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,718,126 (GRCm38) |
V381I |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,272,863 (GRCm38) |
|
probably benign |
Het |
| Rpl28-ps4 |
T |
A |
6: 117,213,895 (GRCm38) |
|
noncoding transcript |
Het |
| Rsph10b |
A |
G |
5: 143,967,250 (GRCm38) |
|
probably null |
Het |
| Rspo4 |
A |
G |
2: 151,873,093 (GRCm38) |
K217E |
unknown |
Het |
| Scgb2b27 |
G |
A |
7: 34,013,285 (GRCm38) |
A44V |
possibly damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,111,435 (GRCm38) |
|
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,536,156 (GRCm38) |
N101D |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,306,429 (GRCm38) |
C9* |
probably null |
Het |
| Sept5 |
A |
C |
16: 18,623,012 (GRCm38) |
L331R |
probably benign |
Het |
| Slc16a11 |
C |
A |
11: 70,215,651 (GRCm38) |
Y238* |
probably null |
Het |
| Slc25a12 |
T |
C |
2: 71,312,548 (GRCm38) |
T210A |
probably benign |
Het |
| Slc35f1 |
A |
T |
10: 53,089,347 (GRCm38) |
Y286F |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,376,448 (GRCm38) |
L2225* |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,716,620 (GRCm38) |
L665P |
probably damaging |
Het |
| Tpsb2 |
T |
A |
17: 25,367,724 (GRCm38) |
W237R |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,049,696 (GRCm38) |
N231K |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,502,590 (GRCm38) |
T98S |
possibly damaging |
Het |
| Vmn1r87 |
A |
T |
7: 13,131,821 (GRCm38) |
S180T |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,537,841 (GRCm38) |
V821A |
probably damaging |
Het |
| Zfp689 |
C |
A |
7: 127,444,826 (GRCm38) |
G211C |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,076,236 (GRCm38) |
D479G |
probably benign |
Het |
| Zfp995 |
A |
C |
17: 21,880,594 (GRCm38) |
F220V |
probably damaging |
Het |
|
| Other mutations in Tyk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Tyk2
|
APN |
9 |
21,120,588 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01015:Tyk2
|
APN |
9 |
21,120,700 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01096:Tyk2
|
APN |
9 |
21,108,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01410:Tyk2
|
APN |
9 |
21,109,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01613:Tyk2
|
APN |
9 |
21,120,576 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01997:Tyk2
|
APN |
9 |
21,110,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02249:Tyk2
|
APN |
9 |
21,120,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02407:Tyk2
|
APN |
9 |
21,109,227 (GRCm38) |
splice site |
probably benign |
|
|
IGL02538:Tyk2
|
APN |
9 |
21,111,043 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03185:Tyk2
|
APN |
9 |
21,109,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
conspiracy
|
UTSW |
9 |
21,108,776 (GRCm38) |
nonsense |
probably null |
|
|
fringe
|
UTSW |
9 |
21,108,860 (GRCm38) |
missense |
probably benign |
0.35 |
|
leonard
|
UTSW |
9 |
21,127,120 (GRCm38) |
splice site |
probably benign |
|
|
motorbike
|
UTSW |
9 |
21,105,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tyke
|
UTSW |
9 |
21,124,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU74:Tyk2
|
UTSW |
9 |
21,116,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Tyk2
|
UTSW |
9 |
21,114,190 (GRCm38) |
splice site |
probably null |
|
|
R0667:Tyk2
|
UTSW |
9 |
21,108,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0862:Tyk2
|
UTSW |
9 |
21,116,167 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0883:Tyk2
|
UTSW |
9 |
21,111,137 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1554:Tyk2
|
UTSW |
9 |
21,107,922 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1575:Tyk2
|
UTSW |
9 |
21,115,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1664:Tyk2
|
UTSW |
9 |
21,120,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1676:Tyk2
|
UTSW |
9 |
21,115,249 (GRCm38) |
nonsense |
probably null |
|
|
R1843:Tyk2
|
UTSW |
9 |
21,121,554 (GRCm38) |
nonsense |
probably null |
|
|
R1871:Tyk2
|
UTSW |
9 |
21,121,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2137:Tyk2
|
UTSW |
9 |
21,110,985 (GRCm38) |
intron |
probably benign |
|
|
R2197:Tyk2
|
UTSW |
9 |
21,115,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2883:Tyk2
|
UTSW |
9 |
21,110,587 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2941:Tyk2
|
UTSW |
9 |
21,111,119 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3001:Tyk2
|
UTSW |
9 |
21,109,321 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3002:Tyk2
|
UTSW |
9 |
21,109,321 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3196:Tyk2
|
UTSW |
9 |
21,124,032 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R3622:Tyk2
|
UTSW |
9 |
21,127,310 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4024:Tyk2
|
UTSW |
9 |
21,115,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4459:Tyk2
|
UTSW |
9 |
21,124,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Tyk2
|
UTSW |
9 |
21,108,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Tyk2
|
UTSW |
9 |
21,114,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4666:Tyk2
|
UTSW |
9 |
21,114,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4915:Tyk2
|
UTSW |
9 |
21,111,137 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4971:Tyk2
|
UTSW |
9 |
21,120,501 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5014:Tyk2
|
UTSW |
9 |
21,115,830 (GRCm38) |
splice site |
probably null |
|
|
R5191:Tyk2
|
UTSW |
9 |
21,107,497 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5305:Tyk2
|
UTSW |
9 |
21,109,381 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5356:Tyk2
|
UTSW |
9 |
21,115,744 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5501:Tyk2
|
UTSW |
9 |
21,121,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6025:Tyk2
|
UTSW |
9 |
21,115,960 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6113:Tyk2
|
UTSW |
9 |
21,107,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6159:Tyk2
|
UTSW |
9 |
21,110,504 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6608:Tyk2
|
UTSW |
9 |
21,108,016 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6610:Tyk2
|
UTSW |
9 |
21,108,016 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6612:Tyk2
|
UTSW |
9 |
21,108,016 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6870:Tyk2
|
UTSW |
9 |
21,124,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7216:Tyk2
|
UTSW |
9 |
21,120,526 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7218:Tyk2
|
UTSW |
9 |
21,105,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7298:Tyk2
|
UTSW |
9 |
21,108,860 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7322:Tyk2
|
UTSW |
9 |
21,110,204 (GRCm38) |
missense |
probably benign |
|
|
R7347:Tyk2
|
UTSW |
9 |
21,108,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7759:Tyk2
|
UTSW |
9 |
21,120,258 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7840:Tyk2
|
UTSW |
9 |
21,124,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7854:Tyk2
|
UTSW |
9 |
21,115,480 (GRCm38) |
missense |
probably benign |
|
|
R7914:Tyk2
|
UTSW |
9 |
21,121,555 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8312:Tyk2
|
UTSW |
9 |
21,115,649 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8892:Tyk2
|
UTSW |
9 |
21,116,167 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8934:Tyk2
|
UTSW |
9 |
21,127,120 (GRCm38) |
splice site |
probably benign |
|
|
R9013:Tyk2
|
UTSW |
9 |
21,105,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9091:Tyk2
|
UTSW |
9 |
21,124,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9097:Tyk2
|
UTSW |
9 |
21,108,776 (GRCm38) |
nonsense |
probably null |
|
|
R9104:Tyk2
|
UTSW |
9 |
21,115,466 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9270:Tyk2
|
UTSW |
9 |
21,124,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tyk2
|
UTSW |
9 |
21,108,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tyk2
|
UTSW |
9 |
21,105,367 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACGCACACTGTGTATG -3'
(R):5'- CATTTCCCACGTGGTGCTAAAG -3'
Sequencing Primer
(F):5'- GAATTCCAGAGTCTGCATC -3'
(R):5'- TAAAGGAGCGTCGCGTGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation