Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01096:Tyk2'

51912

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tyk2

Ensembl Gene

ENSMUSG00000032175

Gene Name

tyrosine kinase 2

Synonyms

JTK1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01096

Quality Score

Status

Chromosome

Chromosomal Location

21015364-21042539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21020159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1000 (Y1000H)

Ref Sequence

ENSEMBL: ENSMUSP00000150354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000216874]

AlphaFold

Q9R117

Predicted Effect

probably damaging
Transcript: ENSMUST00000001036
AA Change: Y1000H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: Y1000H

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 damaging
Transcript: ENSMUST00000214454
AA Change: Y977H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216874
AA Change: Y1000H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Alk	T	C	17: 72,228,891 (GRCm39)	K725E	possibly damaging	Het
Castor1	A	C	11: 4,171,850 (GRCm39)	E309A	probably damaging	Het
Dspp	T	A	5: 104,323,233 (GRCm39)	H125Q	possibly damaging	Het
Elmo2	A	T	2: 165,138,907 (GRCm39)		probably benign	Het
Erg	A	G	16: 95,190,912 (GRCm39)		probably benign	Het
Fam20c	A	G	5: 138,794,910 (GRCm39)	E513G	possibly damaging	Het
Gm9839	G	T	1: 32,559,917 (GRCm39)	T55N	possibly damaging	Het
Gpd2	A	T	2: 57,228,879 (GRCm39)	M228L	probably damaging	Het
Hp	A	T	8: 110,302,033 (GRCm39)	M305K	probably benign	Het
Ifng	T	A	10: 118,281,174 (GRCm39)		probably benign	Het
Igkv9-123	T	C	6: 67,931,449 (GRCm39)	D39G	possibly damaging	Het
Melk	T	A	4: 44,347,262 (GRCm39)	F431I	probably benign	Het
Or10ak12	A	G	4: 118,666,653 (GRCm39)	V136A	probably damaging	Het
Or12j5	A	T	7: 140,084,097 (GRCm39)	S92T	probably damaging	Het
Or4p19	A	G	2: 88,242,135 (GRCm39)	M289T	probably damaging	Het
Or51k1	A	C	7: 103,661,321 (GRCm39)	L196W	probably damaging	Het
Or8g27	G	A	9: 39,129,412 (GRCm39)	G253D	probably damaging	Het
Pappa	T	C	4: 65,107,553 (GRCm39)	Y655H	probably damaging	Het
Prss58	A	T	6: 40,872,399 (GRCm39)	I208N	probably damaging	Het
Ryr2	T	A	13: 11,718,430 (GRCm39)	I2720F	probably damaging	Het
Slc13a1	G	T	6: 24,104,076 (GRCm39)	T322K	probably damaging	Het
Spag17	T	C	3: 99,970,691 (GRCm39)	F1292L	probably benign	Het
Tbx5	A	G	5: 120,021,091 (GRCm39)	T366A	probably benign	Het
Tmeff2	G	A	1: 50,969,705 (GRCm39)		probably benign	Het
Tmem101	C	A	11: 102,045,378 (GRCm39)		probably null	Het
Tpp2	C	A	1: 44,000,048 (GRCm39)	P389T	probably damaging	Het
Ush2a	C	A	1: 188,410,574 (GRCm39)	N2407K	probably damaging	Het
Vmn1r94	C	T	7: 19,901,561 (GRCm39)	V248I	probably damaging	Het
Vmn2r12	T	A	5: 109,234,125 (GRCm39)	I696F	probably damaging	Het
Vmn2r83	A	G	10: 79,313,662 (GRCm39)	E90G	probably damaging	Het
Washc5	T	C	15: 59,222,060 (GRCm39)		probably benign	Het
Wee2	A	G	6: 40,440,187 (GRCm39)	E445G	probably benign	Het
Zfp518b	T	C	5: 38,830,131 (GRCm39)	T625A	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
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
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

Posted On

2013-06-21