Mutagenetix > Incidental Mutation

Incidental Mutation 'R0862:Tyk2'

82154

Institutional Source

Beutler Lab

Gene Symbol

Tyk2

Ensembl Gene

ENSMUSG00000032175

Gene Name

tyrosine kinase 2

Synonyms

JTK1

MMRRC Submission

039036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0862 (G1)

Quality Score

190

Status

Validated

Chromosome

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: 99.1%
3x: 98.1%
10x: 94.9%
20x: 87.0%

Validation Efficiency

100% (40/40)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
9230009I02Rik	T	C	11: 50,982,144 (GRCm39)		noncoding transcript	Het
Adamts13	G	A	2: 26,896,336 (GRCm39)		probably null	Het
Chac1	C	A	2: 119,183,950 (GRCm39)	A184E	probably damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Csmd1	T	A	8: 16,240,040 (GRCm39)	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Dyrk4	T	C	6: 126,854,296 (GRCm39)	E499G	possibly damaging	Het
Fat1	T	A	8: 45,471,074 (GRCm39)	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,184,811 (GRCm39)	C1660*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Gm19684	A	T	17: 36,432,792 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Map4	A	G	9: 109,808,037 (GRCm39)	Y34C	probably damaging	Het
Mapk8	C	T	14: 33,114,949 (GRCm39)	R189H	probably damaging	Het
Mgst1	C	T	6: 138,124,749 (GRCm39)	T21M	probably damaging	Het
Msh2	A	G	17: 87,987,480 (GRCm39)	T207A	probably benign	Het
Mthfd2	A	G	6: 83,290,376 (GRCm39)	V85A	probably damaging	Het
Muc4	A	G	16: 32,570,820 (GRCm39)	S627G	probably benign	Het
Nbeal2	G	A	9: 110,457,263 (GRCm39)	T2266I	probably damaging	Het
Or51b6b	T	C	7: 103,309,735 (GRCm39)	T241A	probably damaging	Het
Or7g16	T	C	9: 18,727,002 (GRCm39)	Y196C	probably damaging	Het
Or8d1	T	C	9: 38,766,478 (GRCm39)	V40A	possibly damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd6ip	A	T	9: 113,503,578 (GRCm39)		probably benign	Het
Piwil2	T	C	14: 70,632,823 (GRCm39)	D583G	probably benign	Het
Plin4	T	A	17: 56,410,966 (GRCm39)	M1022L	probably benign	Het
Rbm48	A	G	5: 3,640,438 (GRCm39)	S314P	probably benign	Het
Rbms3	A	T	9: 117,458,860 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,266,049 (GRCm39)	S726T	possibly damaging	Het
Trim43c	A	T	9: 88,725,087 (GRCm39)	H202L	probably benign	Het
Trip12	A	G	1: 84,721,730 (GRCm39)	F1334S	probably damaging	Het
Ubr2	G	A	17: 47,278,009 (GRCm39)	Q745*	probably null	Het
Ush2a	T	A	1: 188,275,015 (GRCm39)	Y1829*	probably null	Het
Vmn2r65	T	A	7: 84,592,853 (GRCm39)	E451D	probably benign	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
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
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'- TCATCCTGGTGAACCCTGTGGAAG -3'
(R):5'- GTCTGAATTGTGTCCCAGCCAGTG -3'

Sequencing Primer
(F):5'- GCTTCAGGGTACAGACTCATC -3'
(R):5'- GTCCCAGCCAGTGTGTGTATC -3'

Posted On

2013-11-08