Incidental Mutation 'R6025:Tyk2'
| ID |
479980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
044197-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21027256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 538
(V538A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001036
AA Change: V538A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: V538A
| 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 benign
Transcript: ENSMUST00000214454
AA Change: V515A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: V538A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 92.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
GC |
G |
11: 59,101,139 (GRCm39) |
|
probably null |
Het |
| Acvr1b |
C |
A |
15: 101,092,856 (GRCm39) |
D166E |
probably benign |
Het |
| Adgra2 |
T |
C |
8: 27,604,491 (GRCm39) |
I522T |
probably damaging |
Het |
| Adgre4 |
C |
T |
17: 56,099,013 (GRCm39) |
S173L |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,082,801 (GRCm39) |
Q1975L |
probably damaging |
Het |
| Ap3d1 |
T |
A |
10: 80,546,298 (GRCm39) |
M965L |
probably benign |
Het |
| Brca2 |
CATA |
CA |
5: 150,465,040 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,807,502 (GRCm39) |
N1904S |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,408,623 (GRCm39) |
S896R |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,824 (GRCm39) |
D155V |
probably damaging |
Het |
| Dct |
T |
C |
14: 118,273,876 (GRCm39) |
T344A |
possibly damaging |
Het |
| Dctn1 |
T |
A |
6: 83,170,673 (GRCm39) |
|
probably null |
Het |
| Dgkz |
T |
C |
2: 91,776,255 (GRCm39) |
T3A |
possibly damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,132,332 (GRCm39) |
S249P |
possibly damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,189,156 (GRCm39) |
V82E |
probably damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,217 (GRCm39) |
|
probably null |
Het |
| Garin5b |
T |
A |
7: 4,761,143 (GRCm39) |
D523V |
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,422,800 (GRCm39) |
N22Y |
probably damaging |
Het |
| Kcnq1 |
T |
A |
7: 142,660,170 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,354,388 (GRCm39) |
Q799L |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,862,456 (GRCm39) |
L206* |
probably null |
Het |
| Lonp2 |
G |
T |
8: 87,440,001 (GRCm39) |
G247V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,206,306 (GRCm39) |
Y121C |
probably damaging |
Het |
| Mboat1 |
C |
A |
13: 30,408,509 (GRCm39) |
T224K |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,492,073 (GRCm39) |
E416G |
possibly damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,093 (GRCm39) |
I322N |
probably damaging |
Het |
| Nanog |
G |
A |
6: 122,690,350 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nbn |
T |
C |
4: 15,981,347 (GRCm39) |
S480P |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,865,633 (GRCm38) |
L638M |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,611 (GRCm39) |
V538A |
probably damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,745 (GRCm39) |
S69T |
probably benign |
Het |
| Or2b4 |
T |
G |
17: 38,116,312 (GRCm39) |
I92S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,416 (GRCm39) |
I63V |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,034 (GRCm39) |
T37S |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,780 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,528 (GRCm39) |
S529P |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,144 (GRCm39) |
E321G |
probably damaging |
Het |
| Plcb3 |
G |
A |
19: 6,933,547 (GRCm39) |
T926I |
probably benign |
Het |
| Pm20d2 |
G |
A |
4: 33,181,833 (GRCm39) |
P257S |
probably damaging |
Het |
| Pon2 |
A |
G |
6: 5,289,057 (GRCm39) |
V34A |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,110,855 (GRCm39) |
F76S |
possibly damaging |
Het |
| Prpf31 |
G |
A |
7: 3,642,668 (GRCm39) |
E414K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,902,455 (GRCm39) |
L404Q |
probably damaging |
Het |
| Slc26a11 |
C |
T |
11: 119,265,654 (GRCm39) |
A389V |
probably damaging |
Het |
| Slc2a1 |
A |
T |
4: 118,993,539 (GRCm39) |
T459S |
possibly damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,685 (GRCm39) |
L135P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,463,720 (GRCm39) |
L3844P |
possibly damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,675,772 (GRCm39) |
T616S |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,712,896 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
T |
7: 67,384,686 (GRCm39) |
A550D |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,787,373 (GRCm39) |
V891A |
possibly damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,413 (GRCm39) |
Q45L |
probably damaging |
Het |
| Tmem104 |
C |
A |
11: 115,096,349 (GRCm39) |
Y191* |
probably null |
Het |
| Tmem17 |
A |
C |
11: 22,468,659 (GRCm39) |
*199C |
probably null |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,734,727 (GRCm39) |
D3250G |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,237,322 (GRCm39) |
H130R |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,302,665 (GRCm39) |
Q1773R |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,528,970 (GRCm39) |
K552E |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,808,106 (GRCm39) |
R230Q |
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 |
|
|
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 |
|
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'- TAGGCACAGGAGTGGACATC -3'
(R):5'- TTACCGTGGCCCATCGAAAC -3'
Sequencing Primer
(F):5'- AGTGGACATCGCCCTTGTG -3'
(R):5'- CCCGGTGGGCTTGGAGC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation