Incidental Mutation 'R7347:Tyk2'
| ID |
570289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
045374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21019330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1031
(M1031V)
|
| 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: M1031V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: M1031V
| 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: M1008V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216874
AA Change: M1031V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (80/80) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930564D02Rik |
G |
T |
3: 104,985,728 (GRCm39) |
R47S |
unknown |
Het |
| Abtb2 |
T |
G |
2: 103,397,757 (GRCm39) |
I229S |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,727,441 (GRCm39) |
L457P |
probably damaging |
Het |
| Amer3 |
C |
A |
1: 34,626,983 (GRCm39) |
D407E |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,760,335 (GRCm39) |
S729P |
probably benign |
Het |
| Asap2 |
T |
G |
12: 21,279,458 (GRCm39) |
I418S |
probably benign |
Het |
| Atp5mf |
T |
C |
5: 145,125,295 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
T |
A |
1: 146,777,824 (GRCm39) |
V757E |
probably benign |
Het |
| Brip1 |
C |
T |
11: 86,029,929 (GRCm39) |
G572R |
probably benign |
Het |
| C3 |
C |
A |
17: 57,530,215 (GRCm39) |
R462L |
probably benign |
Het |
| Cat |
T |
A |
2: 103,293,643 (GRCm39) |
H395L |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,098,656 (GRCm39) |
P814Q |
probably damaging |
Het |
| Cela3a |
T |
C |
4: 137,129,917 (GRCm39) |
N235D |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cntnap1 |
G |
T |
11: 101,076,094 (GRCm39) |
G993W |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,218,484 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,654 (GRCm39) |
H29N |
probably benign |
Het |
| Dll3 |
C |
T |
7: 27,998,536 (GRCm39) |
R143H |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,784,530 (GRCm39) |
*114R |
probably null |
Het |
| Ecm2 |
T |
C |
13: 49,668,554 (GRCm39) |
S86P |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,724 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,644,328 (GRCm39) |
|
probably null |
Het |
| Exph5 |
A |
G |
9: 53,287,196 (GRCm39) |
N1426D |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,586 (GRCm39) |
F110L |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,517,191 (GRCm39) |
E1032V |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,907,205 (GRCm39) |
H556L |
probably benign |
Het |
| Glb1l3 |
A |
T |
9: 26,740,299 (GRCm39) |
Y344N |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,061,015 (GRCm39) |
D216E |
possibly damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,499 (GRCm39) |
C246S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,949,689 (GRCm39) |
L137P |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,116,616 (GRCm39) |
T169A |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,326,994 (GRCm39) |
T4778P |
probably benign |
Het |
| Ifna15 |
A |
G |
4: 88,476,220 (GRCm39) |
L88P |
probably damaging |
Het |
| Inhca |
T |
A |
9: 103,159,845 (GRCm39) |
E22V |
possibly damaging |
Het |
| Kcnab1 |
G |
A |
3: 65,283,952 (GRCm39) |
R390H |
probably benign |
Het |
| Kng1 |
C |
A |
16: 22,886,537 (GRCm39) |
H161N |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,902,878 (GRCm39) |
V199A |
probably benign |
Het |
| Lrig3 |
G |
A |
10: 125,845,835 (GRCm39) |
V755M |
probably damaging |
Het |
| Mad1l1 |
C |
T |
5: 140,129,799 (GRCm39) |
R412H |
probably damaging |
Het |
| Marchf6 |
C |
A |
15: 31,486,505 (GRCm39) |
C350F |
probably benign |
Het |
| Mastl |
A |
G |
2: 23,023,401 (GRCm39) |
S441P |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,590,951 (GRCm39) |
M231L |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,981,358 (GRCm39) |
V444A |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,787 (GRCm39) |
M516V |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,790,413 (GRCm39) |
F1110L |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,460,147 (GRCm39) |
L381* |
probably null |
Het |
| Nln |
T |
C |
13: 104,187,355 (GRCm39) |
K325E |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,663 (GRCm39) |
P271S |
probably benign |
Het |
| Obox6 |
A |
C |
7: 15,568,571 (GRCm39) |
L102V |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,799 (GRCm39) |
S227G |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,615 (GRCm39) |
I109V |
possibly damaging |
Het |
| Or7g33 |
A |
G |
9: 19,448,395 (GRCm39) |
M277T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,181 (GRCm39) |
M136T |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,294 (GRCm39) |
H567R |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,343,759 (GRCm39) |
S760L |
possibly damaging |
Het |
| Pid1 |
T |
A |
1: 84,136,850 (GRCm39) |
I94L |
unknown |
Het |
| Plekhn1 |
T |
C |
4: 156,307,128 (GRCm39) |
H474R |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,776,988 (GRCm39) |
S329T |
possibly damaging |
Het |
| Pros1 |
G |
T |
16: 62,739,886 (GRCm39) |
R445L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,062,260 (GRCm39) |
H1370Q |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,694,106 (GRCm39) |
R283S |
probably damaging |
Het |
| Slc25a20 |
T |
G |
9: 108,559,657 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,779 (GRCm39) |
V446A |
probably damaging |
Het |
| Slc6a4 |
C |
G |
11: 76,907,911 (GRCm39) |
Y358* |
probably null |
Het |
| Sned1 |
A |
C |
1: 93,209,458 (GRCm39) |
E857A |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,548 (GRCm39) |
L544Q |
probably benign |
Het |
| Spata31e3 |
T |
C |
13: 50,399,780 (GRCm39) |
I849V |
probably benign |
Het |
| Spdye4b |
C |
T |
5: 143,188,145 (GRCm39) |
R213C |
possibly damaging |
Het |
| Spry2 |
T |
G |
14: 106,130,946 (GRCm39) |
E80A |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,497,015 (GRCm39) |
C142Y |
probably benign |
Het |
| Sync |
A |
T |
4: 129,188,099 (GRCm39) |
Q377L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,185,117 (GRCm39) |
C718R |
|
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmbim1 |
T |
C |
1: 74,330,438 (GRCm39) |
E185G |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,428 (GRCm39) |
V87I |
not run |
Het |
| Vmn2r49 |
A |
G |
7: 9,720,741 (GRCm39) |
V250A |
probably benign |
Het |
| Yipf3 |
A |
C |
17: 46,561,753 (GRCm39) |
T187P |
probably damaging |
Het |
| Zfp148 |
G |
T |
16: 33,255,160 (GRCm39) |
R50L |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
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 |
|
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 |
|
|
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'- AGCTCTTGATCACCAGAACACTG -3'
(R):5'- AGCCCCACTCCTAACCTTGTAG -3'
Sequencing Primer
(F):5'- CAGAACACTGGGCTGTCC -3'
(R):5'- CTAACCTTGTAGAGCACTGGGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation