Incidental Mutation 'R1676:Tyk2'
| ID |
188088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
039712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1676 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21015364-21042539 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 21026545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 684
(Q684*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001036
AA Change: Q684*
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: Q684*
| 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 null
Transcript: ENSMUST00000214454
AA Change: Q661*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216874
AA Change: Q684*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
T |
11: 58,771,819 (GRCm39) |
A434S |
possibly damaging |
Het |
| Abhd8 |
T |
A |
8: 71,914,517 (GRCm39) |
D37V |
probably damaging |
Het |
| Acvr2a |
G |
A |
2: 48,763,095 (GRCm39) |
S97N |
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,394,940 (GRCm39) |
H296Q |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Cap2 |
T |
G |
13: 46,791,335 (GRCm39) |
H167Q |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,185,616 (GRCm39) |
L180S |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,883,575 (GRCm39) |
I314N |
probably damaging |
Het |
| Cavin2 |
T |
A |
1: 51,340,330 (GRCm39) |
S336T |
probably benign |
Het |
| Cdc14b |
A |
T |
13: 64,373,416 (GRCm39) |
I119N |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,613,246 (GRCm39) |
I651F |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,453,137 (GRCm39) |
D522V |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,120,307 (GRCm39) |
V93D |
probably damaging |
Het |
| Crppa |
T |
C |
12: 36,526,720 (GRCm39) |
C170R |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,453 (GRCm39) |
V314A |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,404,128 (GRCm39) |
V2805I |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,377,350 (GRCm39) |
K1712* |
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,581,085 (GRCm39) |
D547G |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,419,117 (GRCm39) |
H248R |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,468,260 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,151,701 (GRCm39) |
T2518A |
probably damaging |
Het |
| Fzd2 |
G |
A |
11: 102,496,707 (GRCm39) |
V384M |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,607,510 (GRCm39) |
S371T |
probably damaging |
Het |
| Hbb-bh2 |
T |
C |
7: 103,488,362 (GRCm39) |
K145R |
probably null |
Het |
| Hectd1 |
G |
T |
12: 51,791,571 (GRCm39) |
P2558Q |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,444,633 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
T |
C |
7: 126,462,647 (GRCm39) |
|
probably null |
Het |
| Itpkc |
T |
C |
7: 26,907,706 (GRCm39) |
D666G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,060,588 (GRCm39) |
D693E |
probably benign |
Het |
| Katnbl1 |
T |
C |
2: 112,236,454 (GRCm39) |
L60P |
probably damaging |
Het |
| Kcna1 |
T |
A |
6: 126,619,645 (GRCm39) |
E225V |
probably damaging |
Het |
| Kcnj6 |
T |
A |
16: 94,633,443 (GRCm39) |
M223L |
probably damaging |
Het |
| Kcnk7 |
G |
T |
19: 5,757,006 (GRCm39) |
V332F |
probably benign |
Het |
| Kmt5a |
GAA |
GA |
5: 124,597,948 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
C |
A |
12: 66,615,546 (GRCm39) |
G618V |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,615,547 (GRCm39) |
G618* |
probably null |
Het |
| Morc2b |
T |
C |
17: 33,354,955 (GRCm39) |
E939G |
possibly damaging |
Het |
| Mstn |
T |
A |
1: 53,101,224 (GRCm39) |
D100E |
probably benign |
Het |
| Mthfd1l |
G |
A |
10: 4,033,877 (GRCm39) |
|
probably null |
Het |
| Muc20 |
T |
A |
16: 32,614,649 (GRCm39) |
T243S |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,247 (GRCm39) |
N156K |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,748,679 (GRCm39) |
|
probably null |
Het |
| Naa35 |
A |
T |
13: 59,760,490 (GRCm39) |
Q274L |
probably damaging |
Het |
| Ncam1 |
G |
A |
9: 49,468,472 (GRCm39) |
T329I |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,902,859 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,073,637 (GRCm39) |
W69R |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,323,687 (GRCm39) |
H1294L |
probably damaging |
Het |
| Nsun6 |
T |
A |
2: 15,052,024 (GRCm39) |
R56* |
probably null |
Het |
| Nudt1 |
A |
G |
5: 140,320,378 (GRCm39) |
|
probably null |
Het |
| Nxph4 |
T |
G |
10: 127,362,077 (GRCm39) |
K271N |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,653 (GRCm39) |
R51* |
probably null |
Het |
| Or4a66 |
T |
G |
2: 88,531,661 (GRCm39) |
H4P |
probably benign |
Het |
| Or51e2 |
T |
A |
7: 102,391,605 (GRCm39) |
I202F |
probably damaging |
Het |
| Or52a20 |
T |
C |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Otud6b |
T |
A |
4: 14,825,617 (GRCm39) |
N71I |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,014,064 (GRCm39) |
D623V |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,805 (GRCm39) |
S62P |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,705,190 (GRCm39) |
S833P |
probably damaging |
Het |
| Ppp1r1a |
T |
G |
15: 103,441,915 (GRCm39) |
D51A |
probably damaging |
Het |
| Prag1 |
C |
A |
8: 36,570,052 (GRCm39) |
P212T |
probably damaging |
Het |
| Prxl2b |
C |
T |
4: 154,981,520 (GRCm39) |
V186I |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,081,701 (GRCm39) |
T44A |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,076,735 (GRCm39) |
H83R |
possibly damaging |
Het |
| Rapgef3 |
C |
T |
15: 97,659,063 (GRCm39) |
G101E |
probably benign |
Het |
| Rimbp3 |
T |
A |
16: 17,028,977 (GRCm39) |
D800E |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Selenbp1 |
A |
G |
3: 94,851,854 (GRCm39) |
D465G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,352,340 (GRCm39) |
S366P |
probably damaging |
Het |
| Slc29a1 |
T |
C |
17: 45,899,936 (GRCm39) |
D251G |
probably damaging |
Het |
| Slc6a11 |
G |
T |
6: 114,224,627 (GRCm39) |
V604F |
probably benign |
Het |
| Sltm |
T |
A |
9: 70,480,929 (GRCm39) |
D260E |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,803,396 (GRCm39) |
|
probably null |
Het |
| Tc2n |
A |
G |
12: 101,655,251 (GRCm39) |
S235P |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,870,154 (GRCm39) |
N213I |
possibly damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,677 (GRCm39) |
T137A |
probably damaging |
Het |
| Ttn |
TCCC |
TCCCC |
2: 76,573,251 (GRCm39) |
|
probably null |
Het |
| Ubqln1 |
A |
G |
13: 58,327,205 (GRCm39) |
F478S |
possibly damaging |
Het |
| Uckl1 |
G |
A |
2: 181,216,711 (GRCm39) |
T78I |
probably damaging |
Het |
| Uhmk1 |
A |
G |
1: 170,027,581 (GRCm39) |
V372A |
probably damaging |
Het |
| Unc5c |
G |
A |
3: 141,463,598 (GRCm39) |
V240I |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,782 (GRCm39) |
L2681P |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 63,997,603 (GRCm39) |
Q420* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,184 (GRCm39) |
T727S |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,839 (GRCm39) |
T413A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,834,244 (GRCm39) |
V1637A |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,469,929 (GRCm39) |
V765A |
possibly damaging |
Het |
| Zbtb18 |
T |
G |
1: 177,274,913 (GRCm39) |
|
probably null |
Het |
| Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,602,301 (GRCm39) |
N415S |
possibly 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 |
|
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 |
|
|
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'- TCCGGGCTACAGGAGAGATTGATG -3'
(R):5'- CGAGTGGTGCTCAAAGTTCTCGAC -3'
Sequencing Primer
(F):5'- atgaggggctggaggtg -3'
(R):5'- TCAAAGTTCTCGACCCCAGTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation