Incidental Mutation 'R7218:Tyk2'
| ID |
561602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
045290-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21016350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1207
(C1207R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001036
AA Change: C1207R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: C1207R
| 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 damaging
Transcript: ENSMUST00000214454
AA Change: C1184R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: C1207R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
T |
C |
17: 46,043,977 (GRCm39) |
T94A |
unknown |
Het |
| 1700025G04Rik |
T |
C |
1: 151,791,259 (GRCm39) |
R101G |
probably damaging |
Het |
| 6430548M08Rik |
T |
A |
8: 120,872,322 (GRCm39) |
S83R |
probably damaging |
Het |
| Actn2 |
A |
G |
13: 12,293,799 (GRCm39) |
S574P |
probably benign |
Het |
| Ank |
A |
T |
15: 27,544,407 (GRCm39) |
Y56F |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,191 (GRCm39) |
D74G |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,872,864 (GRCm39) |
T738S |
probably damaging |
Het |
| Apcs |
A |
T |
1: 172,722,231 (GRCm39) |
D38E |
possibly damaging |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,860,324 (GRCm39) |
D717V |
|
Het |
| Baiap2l1 |
A |
G |
5: 144,212,687 (GRCm39) |
S443P |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,886,390 (GRCm39) |
H149L |
probably damaging |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
T |
C |
15: 78,411,574 (GRCm39) |
E34G |
probably benign |
Het |
| Chil3 |
A |
C |
3: 106,067,853 (GRCm39) |
|
probably null |
Het |
| Chmp4c |
T |
A |
3: 10,432,198 (GRCm39) |
L36Q |
probably damaging |
Het |
| Chrna2 |
T |
A |
14: 66,381,320 (GRCm39) |
|
probably null |
Het |
| Clec1a |
C |
T |
6: 129,413,918 (GRCm39) |
C57Y |
probably damaging |
Het |
| Clec7a |
G |
T |
6: 129,445,885 (GRCm39) |
T95K |
probably damaging |
Het |
| Csf1r |
C |
A |
18: 61,263,396 (GRCm39) |
S926R |
probably damaging |
Het |
| Dnajc9 |
A |
G |
14: 20,438,507 (GRCm39) |
I61T |
probably benign |
Het |
| Extl1 |
T |
G |
4: 134,087,080 (GRCm39) |
S493R |
probably benign |
Het |
| Fance |
A |
G |
17: 28,545,148 (GRCm39) |
D143G |
probably benign |
Het |
| Fcho2 |
C |
T |
13: 98,890,121 (GRCm39) |
|
probably null |
Het |
| Filip1 |
T |
C |
9: 79,725,356 (GRCm39) |
S1088G |
probably benign |
Het |
| Gnat1 |
A |
C |
9: 107,553,184 (GRCm39) |
M319R |
possibly damaging |
Het |
| Gpr132 |
A |
T |
12: 112,816,049 (GRCm39) |
V259E |
probably damaging |
Het |
| Gprc5d |
T |
A |
6: 135,093,452 (GRCm39) |
M152L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,784,513 (GRCm39) |
R244H |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,649 (GRCm39) |
S322P |
possibly damaging |
Het |
| Il33 |
T |
A |
19: 29,936,325 (GRCm39) |
F229I |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,950 (GRCm39) |
D386G |
probably benign |
Het |
| Ino80 |
G |
T |
2: 119,288,608 (GRCm39) |
H33N |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,922,781 (GRCm39) |
D228G |
unknown |
Het |
| Mamdc2 |
C |
T |
19: 23,424,974 (GRCm39) |
A40T |
probably benign |
Het |
| Meis3 |
T |
C |
7: 15,918,626 (GRCm39) |
V357A |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,371,282 (GRCm39) |
T4199A |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,114,054 (GRCm39) |
M1099K |
probably benign |
Het |
| Mzb1 |
A |
T |
18: 35,780,975 (GRCm39) |
H104Q |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,413,184 (GRCm39) |
L167P |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,650,117 (GRCm39) |
S1283C |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,841,107 (GRCm39) |
|
probably null |
Het |
| Or13p4 |
T |
C |
4: 118,547,215 (GRCm39) |
I145V |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,566,874 (GRCm39) |
L90P |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,091 (GRCm39) |
T1243A |
possibly damaging |
Het |
| Pramel39-ps |
C |
A |
5: 94,451,113 (GRCm39) |
V338F |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,431,596 (GRCm39) |
R1152W |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,389,284 (GRCm39) |
T1270A |
probably damaging |
Het |
| Pwwp2b |
A |
C |
7: 138,836,049 (GRCm39) |
T497P |
probably damaging |
Het |
| Rab44 |
T |
A |
17: 29,358,418 (GRCm39) |
V202E |
|
Het |
| Rbfox1 |
C |
T |
16: 7,111,947 (GRCm39) |
T191I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,174 (GRCm39) |
K299R |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,966,712 (GRCm39) |
S381T |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,199,961 (GRCm39) |
I2889V |
possibly damaging |
Het |
| Spopfm2 |
A |
T |
3: 94,082,856 (GRCm39) |
H318Q |
possibly damaging |
Het |
| St3gal3 |
T |
A |
4: 117,814,639 (GRCm39) |
D218V |
|
Het |
| Sun1 |
A |
G |
5: 139,212,442 (GRCm39) |
T70A |
unknown |
Het |
| Tbc1d23 |
C |
T |
16: 56,990,745 (GRCm39) |
V678M |
probably damaging |
Het |
| Tdh |
T |
A |
14: 63,733,206 (GRCm39) |
Y195F |
probably damaging |
Het |
| Tescl |
C |
T |
7: 24,033,286 (GRCm39) |
R13H |
possibly damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,277 (GRCm39) |
M508K |
probably benign |
Het |
| Trappc4 |
A |
G |
9: 44,316,587 (GRCm39) |
M136T |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,229,398 (GRCm39) |
Y355C |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,572 (GRCm39) |
H270L |
probably benign |
Het |
| Vmn2r20 |
G |
A |
6: 123,363,074 (GRCm39) |
P570L |
probably damaging |
Het |
| Wnk1 |
A |
C |
6: 119,979,234 (GRCm39) |
Y284* |
probably null |
Het |
| Yars2 |
C |
T |
16: 16,121,182 (GRCm39) |
A112V |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,995,024 (GRCm39) |
N470S |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,852 (GRCm39) |
S417T |
probably benign |
Het |
| Zfp879 |
A |
C |
11: 50,723,508 (GRCm39) |
V516G |
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 |
|
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 |
|
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'- ACAGTTTCTTCCCAGCTAATGAAG -3'
(R):5'- TTACGACACAGGGCAGATGG -3'
Sequencing Primer
(F):5'- CTAATGAAGATGGGGGTCTCAACC -3'
(R):5'- GCAGATGGCCCCACAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation