Incidental Mutation 'R1664:Tyk2'
| ID |
187028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
039700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1664 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21031649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 447
(R447L)
|
| 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: R447L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: R447L
| 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: R424L
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: R447L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,772 (GRCm39) |
T45S |
probably benign |
Het |
| Ackr1 |
A |
G |
1: 173,160,433 (GRCm39) |
F29L |
probably benign |
Het |
| Adgrf2 |
T |
A |
17: 43,025,305 (GRCm39) |
S60C |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,944 (GRCm39) |
C355R |
probably damaging |
Het |
| Ankmy1 |
A |
C |
1: 92,812,913 (GRCm39) |
D465E |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,306,551 (GRCm39) |
D310E |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,553,571 (GRCm39) |
Q559* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,952 (GRCm39) |
T1298A |
probably damaging |
Het |
| Casr |
T |
A |
16: 36,330,327 (GRCm39) |
K336* |
probably null |
Het |
| Ccdc116 |
A |
T |
16: 16,960,492 (GRCm39) |
D108E |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,098,387 (GRCm39) |
I904F |
possibly damaging |
Het |
| Ccr7 |
A |
T |
11: 99,036,517 (GRCm39) |
I135N |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,938,364 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Cdan1 |
T |
A |
2: 120,550,987 (GRCm39) |
D1135V |
probably damaging |
Het |
| Cecr2 |
C |
A |
6: 120,738,987 (GRCm39) |
T1210K |
probably damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Chd9 |
T |
G |
8: 91,749,418 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
T |
17: 58,600,985 (GRCm39) |
W776L |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,095,355 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
G |
T |
6: 30,554,314 (GRCm39) |
M311I |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,664,087 (GRCm39) |
F483L |
probably damaging |
Het |
| Ddx19a |
A |
C |
8: 111,716,130 (GRCm39) |
V90G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw7 |
A |
G |
3: 84,876,478 (GRCm39) |
D213G |
possibly damaging |
Het |
| Fgd2 |
T |
C |
17: 29,588,273 (GRCm39) |
F362L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,216,778 (GRCm39) |
Y2171H |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,578,080 (GRCm39) |
R90G |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,864 (GRCm39) |
E40G |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,279,861 (GRCm39) |
I398V |
probably benign |
Het |
| Grip2 |
T |
A |
6: 91,742,233 (GRCm39) |
H899L |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,337,268 (GRCm39) |
K644E |
possibly damaging |
Het |
| Iars1 |
A |
T |
13: 49,865,251 (GRCm39) |
T576S |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,704 (GRCm39) |
V2084M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc69 |
G |
A |
4: 14,775,079 (GRCm39) |
T63M |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,711,886 (GRCm39) |
C646S |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,252,342 (GRCm39) |
T457M |
probably damaging |
Het |
| Ncln |
A |
T |
10: 81,323,555 (GRCm39) |
C531S |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,784 (GRCm39) |
I44V |
probably benign |
Het |
| Or5v1 |
C |
T |
17: 37,810,316 (GRCm39) |
T258M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,548 (GRCm39) |
M124L |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,642,437 (GRCm39) |
V1331A |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,723,615 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,705,758 (GRCm39) |
E514G |
possibly damaging |
Het |
| Pclaf |
A |
G |
9: 65,797,730 (GRCm39) |
N7S |
probably benign |
Het |
| Pdrg1 |
C |
T |
2: 152,857,248 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
A |
17: 33,285,492 (GRCm39) |
I437F |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,426,932 (GRCm39) |
D464E |
probably benign |
Het |
| Pkp3 |
A |
G |
7: 140,667,560 (GRCm39) |
N454D |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,734,269 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,167,663 (GRCm39) |
V784A |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,483,028 (GRCm39) |
D205E |
possibly damaging |
Het |
| Prss35 |
A |
T |
9: 86,637,700 (GRCm39) |
T157S |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,125,329 (GRCm39) |
L621P |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,831,172 (GRCm39) |
K524R |
probably damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,839,688 (GRCm39) |
H133Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,084 (GRCm39) |
Y2615N |
probably damaging |
Het |
| Rpf1 |
T |
A |
3: 146,217,903 (GRCm39) |
T204S |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,058,464 (GRCm39) |
*113L |
probably null |
Het |
| Scn5a |
A |
C |
9: 119,350,243 (GRCm39) |
L877R |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,821 (GRCm39) |
D632E |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,865,269 (GRCm39) |
H522R |
probably damaging |
Het |
| Spink2 |
A |
T |
5: 77,354,855 (GRCm39) |
C19S |
probably damaging |
Het |
| Spsb4 |
A |
G |
9: 96,878,266 (GRCm39) |
L19P |
possibly damaging |
Het |
| St7l |
T |
C |
3: 104,778,214 (GRCm39) |
V117A |
probably damaging |
Het |
| Stac2 |
C |
T |
11: 97,933,420 (GRCm39) |
S174N |
probably damaging |
Het |
| Sult4a1 |
A |
G |
15: 83,970,818 (GRCm39) |
Y196H |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,458,608 (GRCm39) |
|
probably benign |
Het |
| Tprg1l |
A |
T |
4: 154,243,862 (GRCm39) |
V98D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,548,369 (GRCm39) |
H31978Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,658,853 (GRCm39) |
|
probably benign |
Het |
| Ucn3 |
T |
C |
13: 3,991,634 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,584,970 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
C |
17: 18,464,406 (GRCm39) |
A628G |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,752 (GRCm39) |
T389K |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,770,794 (GRCm39) |
|
probably null |
Het |
| Xab2 |
T |
A |
8: 3,669,068 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
T |
13: 67,406,144 (GRCm39) |
N95K |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,208,138 (GRCm39) |
H61R |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 22,147,420 (GRCm39) |
G403E |
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 |
|
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 |
|
|
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'- GTGTCATACACAGAGGCCACACAG -3'
(R):5'- GTGACTTCCAGGACATTTCCCACG -3'
Sequencing Primer
(F):5'- ACAGCTAGACACTCGGTGG -3'
(R):5'- GGTGCTAAAGGAGCGTCG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation