Incidental Mutation 'R3001:Tyk2'
| ID |
477346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
040530-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3001 (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 A
at 21020617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 938
(R938L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001036
AA Change: R961L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: R961L
| 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: R938L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: R961L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.1179 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| 2810459M11Rik |
T |
C |
1: 85,973,802 (GRCm39) |
W40R |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,638,406 (GRCm39) |
S873G |
possibly damaging |
Het |
| Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
| Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,494,541 (GRCm39) |
T767A |
probably benign |
Het |
| Bnip3 |
T |
C |
7: 138,496,430 (GRCm39) |
I93V |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,052,517 (GRCm39) |
D269G |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
| Chrd |
T |
G |
16: 20,556,195 (GRCm39) |
Y585* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
| Dnai2 |
C |
T |
11: 114,641,297 (GRCm39) |
P374L |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,511,134 (GRCm39) |
F1289I |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
| Fasn |
T |
C |
11: 120,700,671 (GRCm39) |
D2114G |
probably benign |
Het |
| Fbxl17 |
T |
A |
17: 63,532,072 (GRCm39) |
E590D |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,907,162 (GRCm38) |
R1245L |
probably benign |
Het |
| Folh1 |
A |
C |
7: 86,372,519 (GRCm39) |
I678M |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,343,381 (GRCm39) |
A542T |
probably damaging |
Het |
| Hs3st2 |
T |
A |
7: 121,099,910 (GRCm39) |
M252K |
probably damaging |
Het |
| Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
| Klhdc1 |
T |
A |
12: 69,302,983 (GRCm39) |
V173D |
possibly damaging |
Het |
| Knop1 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTC |
7: 118,451,672 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,648,906 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,955,825 (GRCm39) |
V657A |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,585,758 (GRCm39) |
S810L |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,871,290 (GRCm39) |
M2676L |
probably benign |
Het |
| Mindy4 |
T |
A |
6: 55,195,349 (GRCm39) |
S188T |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,232 (GRCm39) |
M106I |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,468,526 (GRCm39) |
I311T |
probably damaging |
Het |
| Ndufa8 |
T |
A |
2: 35,926,571 (GRCm39) |
E155V |
possibly damaging |
Het |
| Nr4a1 |
A |
G |
15: 101,168,853 (GRCm39) |
|
probably null |
Het |
| Or2a12 |
A |
G |
6: 42,904,888 (GRCm39) |
H241R |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,571,790 (GRCm39) |
T660A |
probably benign |
Het |
| Otub2 |
T |
C |
12: 103,370,536 (GRCm39) |
S273P |
probably damaging |
Het |
| Otulinl |
T |
C |
15: 27,664,792 (GRCm39) |
T55A |
probably benign |
Het |
| Phf11c |
A |
G |
14: 59,622,289 (GRCm39) |
L241P |
probably damaging |
Het |
| Pik3ca |
T |
A |
3: 32,516,946 (GRCm39) |
I1058N |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,143,996 (GRCm39) |
F359S |
possibly damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,942,628 (GRCm39) |
V1156E |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,890,000 (GRCm39) |
N73S |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,268,976 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
G |
A |
5: 145,096,386 (GRCm39) |
L236F |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,579 (GRCm39) |
I208V |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
| Sacm1l |
T |
C |
9: 123,414,149 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,989,746 (GRCm39) |
Y230C |
probably damaging |
Het |
| Sele |
G |
T |
1: 163,881,140 (GRCm39) |
G447C |
probably damaging |
Het |
| Slc17a1 |
G |
A |
13: 24,062,564 (GRCm39) |
|
probably null |
Het |
| Slc2a4 |
A |
T |
11: 69,836,751 (GRCm39) |
Y159* |
probably null |
Het |
| Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
| Tdrd1 |
C |
A |
19: 56,850,182 (GRCm39) |
Y981* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,064,556 (GRCm39) |
Y1329H |
probably benign |
Het |
| Tgif2 |
C |
G |
2: 156,686,114 (GRCm39) |
S2W |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,878,688 (GRCm39) |
M620V |
probably benign |
Het |
| Tmeff2 |
C |
T |
1: 51,220,994 (GRCm39) |
A323V |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem68 |
A |
C |
4: 3,569,588 (GRCm39) |
L34W |
probably damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,170,230 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,766,368 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
| Usp33 |
A |
T |
3: 152,063,579 (GRCm39) |
T18S |
probably damaging |
Het |
| V1rd19 |
A |
T |
7: 23,703,310 (GRCm39) |
I259F |
probably benign |
Het |
| Vmn2r24 |
A |
C |
6: 123,781,231 (GRCm39) |
Q479P |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
| Wfdc6a |
C |
T |
2: 164,422,225 (GRCm39) |
V125I |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,930,085 (GRCm39) |
|
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,077 (GRCm39) |
C369R |
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 |
|
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 |
|
| Posted On |
2017-05-15 |
Incidental Mutation