Incidental Mutation 'R2197:Tyk2'
| ID |
238425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
040199-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2197 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21026503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 698
(V698M)
|
| 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: V698M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V698M
| 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: V675M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: V698M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
T |
11: 102,660,750 (GRCm39) |
I94F |
possibly damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,509,741 (GRCm39) |
D875E |
probably damaging |
Het |
| Arf3 |
T |
C |
15: 98,639,285 (GRCm39) |
N60S |
probably benign |
Het |
| Atxn2 |
T |
G |
5: 121,944,280 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
A |
T |
7: 25,328,373 (GRCm39) |
I268F |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,723,712 (GRCm39) |
D708V |
possibly damaging |
Het |
| C1s2 |
A |
G |
6: 124,609,069 (GRCm39) |
S163P |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,526,623 (GRCm39) |
I786T |
probably benign |
Het |
| Cacna2d2 |
T |
A |
9: 107,404,602 (GRCm39) |
L1138Q |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,029 (GRCm39) |
Y272F |
probably damaging |
Het |
| Cd300ld |
A |
T |
11: 114,875,058 (GRCm39) |
M192K |
possibly damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,745 (GRCm39) |
F624I |
probably benign |
Het |
| Cdh8 |
T |
A |
8: 99,922,897 (GRCm39) |
Q333L |
probably damaging |
Het |
| Ciapin1 |
T |
A |
8: 95,555,787 (GRCm39) |
K128* |
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,731,467 (GRCm39) |
E988D |
probably benign |
Het |
| Crip3 |
A |
G |
17: 46,740,338 (GRCm39) |
E46G |
probably damaging |
Het |
| D5Ertd579e |
A |
G |
5: 36,772,137 (GRCm39) |
S753P |
possibly damaging |
Het |
| Dock6 |
T |
A |
9: 21,744,177 (GRCm39) |
D126V |
probably damaging |
Het |
| Duxf4 |
T |
A |
10: 58,072,158 (GRCm39) |
I19F |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,506 (GRCm39) |
E153G |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,471 (GRCm39) |
M748L |
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,622,477 (GRCm39) |
L630P |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,507,668 (GRCm39) |
T454M |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,134 (GRCm39) |
D2472V |
probably damaging |
Het |
| Galnt4 |
G |
A |
10: 98,944,509 (GRCm39) |
G78E |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,362,956 (GRCm39) |
L172* |
probably null |
Het |
| Gjb5 |
A |
T |
4: 127,250,063 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,095,340 (GRCm39) |
D427G |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,316,369 (GRCm39) |
|
probably null |
Het |
| Kcnab1 |
T |
C |
3: 65,017,368 (GRCm39) |
I59T |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,950 (GRCm39) |
Y544H |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,123,870 (GRCm39) |
S765P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,059,936 (GRCm39) |
H675L |
probably benign |
Het |
| Lemd3 |
CCCTCCTCCTCCTCCTCCTCC |
CCCTCCTCCTCCTCCTCC |
10: 120,814,432 (GRCm39) |
|
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,600,865 (GRCm39) |
S654P |
possibly damaging |
Het |
| Lvrn |
G |
T |
18: 47,011,409 (GRCm39) |
M455I |
probably benign |
Het |
| Mfsd12 |
T |
A |
10: 81,193,568 (GRCm39) |
L46Q |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,673,427 (GRCm39) |
M783K |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,978,399 (GRCm39) |
T420S |
probably damaging |
Het |
| Mybphl |
T |
A |
3: 108,284,635 (GRCm39) |
I294N |
probably damaging |
Het |
| Or4c52 |
G |
A |
2: 89,845,768 (GRCm39) |
G165S |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,658 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,977,831 (GRCm39) |
L46* |
probably null |
Het |
| Oxa1l |
A |
T |
14: 54,598,924 (GRCm39) |
Q70L |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,279,185 (GRCm39) |
I722F |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,084,924 (GRCm39) |
D460G |
probably damaging |
Het |
| Pth1r |
CGGG |
CGGGGGG |
9: 110,556,058 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,152 (GRCm39) |
S334P |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,439,816 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
G |
C |
7: 121,366,519 (GRCm39) |
W572S |
probably damaging |
Het |
| Skint5 |
G |
A |
4: 113,798,046 (GRCm39) |
S179L |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,817,949 (GRCm39) |
G175V |
probably damaging |
Het |
| Spaca6 |
G |
A |
17: 18,056,416 (GRCm39) |
|
probably null |
Het |
| Tbc1d30 |
C |
T |
10: 121,140,312 (GRCm39) |
R207H |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,087,435 (GRCm39) |
I829T |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,414,780 (GRCm39) |
S161P |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,719,353 (GRCm39) |
V189A |
probably benign |
Het |
| Tmem248 |
A |
G |
5: 130,260,597 (GRCm39) |
D54G |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,417,487 (GRCm39) |
S121T |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,509,919 (GRCm39) |
R175G |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,610,140 (GRCm39) |
N464S |
probably benign |
Het |
| Vmn2r57 |
T |
G |
7: 41,078,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,570,535 (GRCm39) |
Y351C |
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 |
|
|
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'- GCTACAGGAGAGATTGATGGTC -3'
(R):5'- TGCTCAAAGTTCTCGACCCC -3'
Sequencing Primer
(F):5'- CCTGGGGATGTAGCTCAAC -3'
(R):5'- AGTCACCATGATATCGCCTTGG -3'
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| Posted On |
2014-10-02 |
Incidental Mutation