Incidental Mutation 'R8892:Tyk2'
| ID |
677760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
068695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8892 (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 21027463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 503
(H503R)
|
| 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: H503R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: H503R
| 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: H480R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216874
AA Change: H503R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
| Validation Efficiency |
100% (76/76) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,815,606 (GRCm39) |
L285I |
probably damaging |
Het |
| Abcc2 |
T |
G |
19: 43,795,571 (GRCm39) |
S442R |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Adpgk |
A |
G |
9: 59,217,623 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ahcyl1 |
C |
T |
3: 107,579,378 (GRCm39) |
D219N |
probably benign |
Het |
| Ap3b1 |
G |
A |
13: 94,679,348 (GRCm39) |
V997M |
unknown |
Het |
| Bbs1 |
A |
C |
19: 4,942,954 (GRCm39) |
S479A |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,943,610 (GRCm39) |
D231V |
probably damaging |
Het |
| Cacnb1 |
A |
T |
11: 97,901,192 (GRCm39) |
V220E |
probably damaging |
Het |
| Camkv |
C |
T |
9: 107,823,333 (GRCm39) |
R120* |
probably null |
Het |
| Ccny |
T |
G |
18: 9,345,235 (GRCm39) |
S180R |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,143,284 (GRCm39) |
H3012Q |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,660,468 (GRCm39) |
N476S |
unknown |
Het |
| Clasp2 |
T |
A |
9: 113,709,251 (GRCm39) |
L680Q |
probably damaging |
Het |
| Clip1 |
A |
T |
5: 123,717,565 (GRCm39) |
S1241R |
probably benign |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,604,634 (GRCm39) |
K1036N |
|
Het |
| Ctnna1 |
G |
A |
18: 35,372,586 (GRCm39) |
V514I |
possibly damaging |
Het |
| Ddr1 |
A |
C |
17: 35,993,556 (GRCm39) |
I852S |
probably benign |
Het |
| Dhrs1 |
G |
A |
14: 55,977,404 (GRCm39) |
A238V |
possibly damaging |
Het |
| Echs1 |
A |
C |
7: 139,688,031 (GRCm39) |
L258R |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,661,850 (GRCm39) |
H582N |
probably benign |
Het |
| Fhod3 |
G |
A |
18: 25,189,452 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,226,590 (GRCm39) |
D1855G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,314,544 (GRCm39) |
N904S |
possibly damaging |
Het |
| Itih3 |
A |
G |
14: 30,637,635 (GRCm39) |
V508A |
probably benign |
Het |
| Klhl14 |
T |
G |
18: 21,691,220 (GRCm39) |
T437P |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,619,185 (GRCm39) |
M268V |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,973,194 (GRCm39) |
L1587Q |
probably damaging |
Het |
| Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
| Lrfn2 |
A |
C |
17: 49,377,376 (GRCm39) |
E152D |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,229,230 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,421,465 (GRCm39) |
D595E |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,249,036 (GRCm39) |
L7165P |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,958,141 (GRCm39) |
G648D |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,743,306 (GRCm39) |
C109S |
unknown |
Het |
| Micall2 |
T |
A |
5: 139,703,254 (GRCm39) |
H194L |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mmp16 |
T |
A |
4: 18,051,820 (GRCm39) |
Y270N |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,628,016 (GRCm39) |
F14I |
probably benign |
Het |
| Nme6 |
T |
G |
9: 109,668,706 (GRCm39) |
F41V |
probably damaging |
Het |
| Npffr1 |
A |
G |
10: 61,449,939 (GRCm39) |
N71S |
possibly damaging |
Het |
| Or1b1 |
C |
A |
2: 36,995,523 (GRCm39) |
L46F |
probably damaging |
Het |
| Or1p4-ps1 |
T |
C |
11: 74,207,949 (GRCm39) |
W33R |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,677,026 (GRCm39) |
Y1186N |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,708,027 (GRCm39) |
S552T |
unknown |
Het |
| Ppp2r3c |
A |
T |
12: 55,336,453 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Prl8a1 |
G |
A |
13: 27,766,069 (GRCm39) |
H9Y |
possibly damaging |
Het |
| Rnf135 |
C |
T |
11: 80,074,957 (GRCm39) |
T72I |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,328,171 (GRCm39) |
I1058F |
|
Het |
| Slc39a6 |
A |
T |
18: 24,729,386 (GRCm39) |
Y442* |
probably null |
Het |
| Slc44a2 |
G |
A |
9: 21,253,153 (GRCm39) |
|
probably benign |
Het |
| Slc4a11 |
T |
G |
2: 130,529,140 (GRCm39) |
S437R |
probably damaging |
Het |
| Spc24 |
G |
A |
9: 21,668,994 (GRCm39) |
Q98* |
probably null |
Het |
| Spock3 |
T |
A |
8: 63,404,986 (GRCm39) |
Y51* |
probably null |
Het |
| Sptbn1 |
A |
G |
11: 30,067,800 (GRCm39) |
Y1805H |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,468,845 (GRCm39) |
I780M |
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,999,260 (GRCm39) |
W41* |
probably null |
Het |
| Tdrd9 |
A |
G |
12: 111,979,718 (GRCm39) |
Y401C |
probably benign |
Het |
| Tex47 |
A |
T |
5: 7,355,115 (GRCm39) |
I99F |
probably damaging |
Het |
| Tlr9 |
G |
A |
9: 106,099,834 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
T |
A |
6: 30,497,942 (GRCm39) |
S276C |
possibly damaging |
Het |
| Tmprss11f |
A |
C |
5: 86,687,618 (GRCm39) |
S97A |
possibly damaging |
Het |
| Top6bl |
A |
G |
19: 4,699,721 (GRCm39) |
V494A |
possibly damaging |
Het |
| Ttc7 |
T |
A |
17: 87,637,520 (GRCm39) |
M425K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,739,466 (GRCm39) |
G3737D |
unknown |
Het |
| Unc13b |
A |
T |
4: 43,176,484 (GRCm39) |
R2437S |
unknown |
Het |
| Uqcrc1 |
C |
T |
9: 108,766,186 (GRCm39) |
R58C |
probably damaging |
Het |
| Vmn1r160 |
G |
A |
7: 22,571,474 (GRCm39) |
V276I |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,612 (GRCm39) |
Y691C |
probably damaging |
Het |
| Vmn2r87 |
A |
C |
10: 130,308,105 (GRCm39) |
I711S |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,335 (GRCm39) |
S652P |
possibly damaging |
Het |
| Vps50 |
T |
A |
6: 3,536,967 (GRCm39) |
C313S |
probably damaging |
Het |
| Xrcc5 |
T |
G |
1: 72,382,190 (GRCm39) |
D455E |
possibly damaging |
Het |
| Zdhhc6 |
T |
A |
19: 55,290,987 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
G |
A |
8: 70,116,405 (GRCm39) |
G335D |
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 |
|
|
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 |
|
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'- AGACTCATCCCTACCCTGTG -3'
(R):5'- TGTATCTCTGGGCAGGTCTC -3'
Sequencing Primer
(F):5'- ATGGGGAACTTTCGCAGGC -3'
(R):5'- CTCCTGGGACATTGTCTGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation