Incidental Mutation 'R9104:Tyk2'
| ID |
691894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyk2
|
| Ensembl Gene |
ENSMUSG00000032175 |
| Gene Name |
tyrosine kinase 2 |
| Synonyms |
JTK1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9104 (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 21026762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 642
(D642G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001036]
[ENSMUST00000214454]
[ENSMUST00000216874]
|
| AlphaFold |
Q9R117 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001036
AA Change: D642G
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: D642G
| 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 |
possibly damaging
Transcript: ENSMUST00000214454
AA Change: D619G
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216874
AA Change: D642G
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (69/69) |
| 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 |
|---|
| Adam26a |
A |
T |
8: 44,023,108 (GRCm39) |
N127K |
probably damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,457,912 (GRCm39) |
A14V |
probably benign |
Het |
| Adra2b |
A |
G |
2: 127,205,858 (GRCm39) |
Y125C |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,711 (GRCm39) |
H2998Q |
probably benign |
Het |
| B3galt1 |
C |
A |
2: 67,948,406 (GRCm39) |
H40Q |
probably benign |
Het |
| Best3 |
T |
G |
10: 116,860,680 (GRCm39) |
L647V |
probably benign |
Het |
| Brip1 |
T |
A |
11: 86,077,897 (GRCm39) |
E177V |
possibly damaging |
Het |
| C1qtnf6 |
T |
C |
15: 78,409,109 (GRCm39) |
D246G |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,233 (GRCm39) |
T1622M |
probably benign |
Het |
| Catip |
G |
A |
1: 74,401,682 (GRCm39) |
|
probably null |
Het |
| Ccdc138 |
T |
C |
10: 58,348,982 (GRCm39) |
V176A |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,879 (GRCm39) |
H243R |
probably damaging |
Het |
| Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
| Copz2 |
G |
A |
11: 96,747,514 (GRCm39) |
D166N |
possibly damaging |
Het |
| Dedd |
C |
T |
1: 171,168,572 (GRCm39) |
L253F |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,497,713 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,339,484 (GRCm39) |
S348T |
probably damaging |
Het |
| Eci3 |
A |
G |
13: 35,144,382 (GRCm39) |
|
probably null |
Het |
| Egr4 |
A |
G |
6: 85,490,337 (GRCm39) |
S15P |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,134,397 (GRCm39) |
T12A |
probably benign |
Het |
| Ewsr1 |
G |
T |
11: 5,041,367 (GRCm39) |
P113T |
unknown |
Het |
| Exosc10 |
T |
G |
4: 148,664,859 (GRCm39) |
L789R |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,525,161 (GRCm39) |
Y669C |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,836,517 (GRCm39) |
F333I |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,070 (GRCm39) |
H431N |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm19410 |
T |
C |
8: 36,247,621 (GRCm39) |
Y478H |
probably damaging |
Het |
| Gm3629 |
G |
A |
14: 17,834,542 (GRCm39) |
R150C |
|
Het |
| Grik4 |
A |
C |
9: 42,571,168 (GRCm39) |
L179R |
probably damaging |
Het |
| Gsdmc3 |
C |
T |
15: 63,730,941 (GRCm39) |
|
probably null |
Het |
| Il20ra |
T |
A |
10: 19,635,364 (GRCm39) |
M535K |
probably benign |
Het |
| Il9 |
A |
G |
13: 56,628,401 (GRCm39) |
V96A |
possibly damaging |
Het |
| Itgal |
A |
G |
7: 126,910,794 (GRCm39) |
D592G |
probably damaging |
Het |
| Klk1b11 |
C |
T |
7: 43,427,875 (GRCm39) |
|
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,310 (GRCm39) |
W159* |
probably null |
Het |
| Mapk9 |
T |
C |
11: 49,760,000 (GRCm39) |
Y105H |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,697,947 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,286,224 (GRCm39) |
I118T |
probably damaging |
Het |
| N4bp2l2 |
T |
C |
5: 150,566,724 (GRCm39) |
N131D |
unknown |
Het |
| Nbea |
A |
C |
3: 55,862,809 (GRCm39) |
S1814R |
probably benign |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,191,956 (GRCm39) |
V135A |
|
Het |
| Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,128,831 (GRCm39) |
M59I |
probably damaging |
Het |
| Pbx3 |
C |
A |
2: 34,114,629 (GRCm39) |
D102Y |
probably damaging |
Het |
| Pdia6 |
G |
A |
12: 17,320,492 (GRCm39) |
V44I |
probably benign |
Het |
| Pkdcc |
G |
A |
17: 83,528,471 (GRCm39) |
R280H |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,638,264 (GRCm39) |
E178G |
probably benign |
Het |
| Prom1 |
C |
T |
5: 44,172,161 (GRCm39) |
S619N |
probably benign |
Het |
| Prtg |
A |
C |
9: 72,755,607 (GRCm39) |
I270L |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,106 (GRCm39) |
H487L |
probably damaging |
Het |
| Rpl18a |
A |
C |
8: 71,348,788 (GRCm39) |
Y63D |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,560,718 (GRCm39) |
M374L |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,819,400 (GRCm39) |
L105P |
unknown |
Het |
| Slc16a13 |
T |
A |
11: 70,111,530 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,313,044 (GRCm39) |
K487R |
probably benign |
Het |
| Slc7a11 |
T |
A |
3: 50,332,082 (GRCm39) |
T459S |
probably benign |
Het |
| Smarcad1 |
A |
G |
6: 65,075,649 (GRCm39) |
Q708R |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Syde1 |
T |
C |
10: 78,421,670 (GRCm39) |
H627R |
probably benign |
Het |
| Tas2r113 |
G |
A |
6: 132,870,116 (GRCm39) |
R48H |
probably benign |
Het |
| Tbc1d16 |
T |
C |
11: 119,038,626 (GRCm39) |
Y690C |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,354,610 (GRCm39) |
H1350L |
unknown |
Het |
| Tex15 |
T |
A |
8: 34,060,950 (GRCm39) |
Y127N |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,179 (GRCm39) |
T438A |
possibly damaging |
Het |
| Tubg1 |
A |
G |
11: 101,015,099 (GRCm39) |
D216G |
probably benign |
Het |
| Uqcc1 |
C |
T |
2: 155,743,217 (GRCm39) |
|
probably null |
Het |
| Uvssa |
A |
C |
5: 33,571,404 (GRCm39) |
K683Q |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,166 (GRCm39) |
M198K |
probably benign |
Het |
| Zfp772 |
T |
A |
7: 7,207,190 (GRCm39) |
H167L |
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 |
|
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 |
|
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 |
|
|
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'- GCAGTCTCATAGAAGGCCTG -3'
(R):5'- CCAGGATGAAATCACCCAGG -3'
Sequencing Primer
(F):5'- TCTCATAGAAGGCCTGTGGAGAC -3'
(R):5'- CACTGCATTCTGTACCAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation