Incidental Mutation 'R6113:Tyk2'
| ID |
484961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
044262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6113 (G1)
|
| Quality Score |
171.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21019218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1068
(V1068E)
|
| 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: V1068E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V1068E
| 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: V1045E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: V1068E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
A |
16: 8,390,764 (GRCm39) |
T7N |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,998 (GRCm39) |
C359* |
probably null |
Het |
| Atpsckmt |
T |
C |
15: 31,608,308 (GRCm39) |
Y120H |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,752,651 (GRCm39) |
E384K |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,941,841 (GRCm39) |
R544C |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,335,009 (GRCm39) |
D663G |
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,509,723 (GRCm39) |
I92F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,813,719 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,174 (GRCm39) |
F323I |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,397,240 (GRCm39) |
Y186H |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,900 (GRCm39) |
L261P |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,275,192 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,017,101 (GRCm39) |
L213P |
probably damaging |
Het |
| Dnd1 |
T |
A |
18: 36,898,448 (GRCm39) |
Y102F |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,158,867 (GRCm39) |
N121S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,023 (GRCm39) |
N1269K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,586,848 (GRCm39) |
V943A |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,790,933 (GRCm39) |
K1322* |
probably null |
Het |
| Fgf23 |
A |
G |
6: 127,055,117 (GRCm39) |
T76A |
probably benign |
Het |
| Fgf6 |
T |
C |
6: 126,992,900 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,258,884 (GRCm39) |
T124I |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,167 (GRCm39) |
H341Q |
possibly damaging |
Het |
| Gm20647 |
A |
G |
5: 72,487,143 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
C |
2: 69,313,901 (GRCm39) |
R2277G |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,673 (GRCm39) |
T224A |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,199,217 (GRCm39) |
I175L |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,042 (GRCm39) |
Y243* |
probably null |
Het |
| Myo18b |
C |
G |
5: 113,014,251 (GRCm39) |
D764H |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,435,794 (GRCm39) |
S910G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,261,422 (GRCm39) |
I21N |
possibly damaging |
Het |
| P3h2 |
A |
T |
16: 25,799,903 (GRCm39) |
I430K |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,544 (GRCm39) |
V542A |
probably damaging |
Het |
| Pkp3 |
T |
A |
7: 140,662,569 (GRCm39) |
N60K |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,187,124 (GRCm39) |
G686C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,606,673 (GRCm39) |
L58Q |
probably damaging |
Het |
| Rab13 |
C |
A |
3: 90,132,173 (GRCm39) |
R86S |
probably benign |
Het |
| Rad21l |
A |
C |
2: 151,499,398 (GRCm39) |
L265V |
probably damaging |
Het |
| Rec8 |
G |
A |
14: 55,859,935 (GRCm39) |
A228T |
probably damaging |
Het |
| Rgs12 |
C |
A |
5: 35,177,667 (GRCm39) |
R76S |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,537,141 (GRCm39) |
N670D |
possibly damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,824,175 (GRCm39) |
T464A |
possibly damaging |
Het |
| Srcap |
C |
A |
7: 127,159,453 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,283,243 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Thpo |
C |
A |
16: 20,547,597 (GRCm39) |
|
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,572,952 (GRCm39) |
|
probably null |
Het |
| Tnfrsf14 |
T |
C |
4: 155,008,949 (GRCm39) |
Q74R |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
G |
14: 53,887,182 (GRCm39) |
V34G |
probably benign |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,313 (GRCm39) |
A82V |
probably benign |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,176,844 (GRCm39) |
V408I |
probably benign |
Het |
| Usp35 |
A |
G |
7: 96,973,533 (GRCm39) |
S230P |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,811,810 (GRCm39) |
I46V |
probably null |
Het |
| Vav1 |
T |
A |
17: 57,608,884 (GRCm39) |
D349E |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,805,655 (GRCm39) |
R114* |
probably null |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,557 (GRCm39) |
E244G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,398,820 (GRCm39) |
T720A |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,059,923 (GRCm39) |
D444E |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,674,053 (GRCm39) |
M1701K |
probably benign |
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 |
|
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'- GCTTAGTGGGCTTCAGTCAAG -3'
(R):5'- TCCAAGCTAGCTTTGCTGG -3'
Sequencing Primer
(F):5'- AGTCAAGTCCCTTTGGTCCTTAAG -3'
(R):5'- GCTGGCAGAGCTCTTGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation