Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00980:Tyk2'

306647

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 #

IGL00980

Quality Score

Status

Chromosome

Chromosomal Location

21015364-21042539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21031884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 397 (T397I)

Ref Sequence

ENSEMBL: ENSMUSP00000150354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001036] [ENSMUST00000214454] [ENSMUST00000214864] [ENSMUST00000216874]

AlphaFold

Q9R117

Predicted Effect

probably benign
Transcript: ENSMUST00000001036
AA Change: T397I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: T397I

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: T374I

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000214864

Predicted Effect

probably benign
Transcript: ENSMUST00000216874
AA Change: T397I

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,293,977 (GRCm39)	Y283*	probably null	Het
Bend3	C	A	10: 43,387,562 (GRCm39)	Q652K	probably damaging	Het
Bltp1	C	T	3: 37,054,190 (GRCm39)	T3103I	probably damaging	Het
Ccdc136	G	A	6: 29,420,257 (GRCm39)	S992N	probably damaging	Het
Cct6a	T	C	5: 129,868,856 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,398 (GRCm39)	I203F	probably benign	Het
Cd8b1	C	A	6: 71,309,463 (GRCm39)	C182*	probably null	Het
Cmtr1	T	A	17: 29,910,258 (GRCm39)	D454E	probably benign	Het
Cyp2b13	T	A	7: 25,781,152 (GRCm39)	F188Y	probably benign	Het
Dppa2	T	C	16: 48,132,049 (GRCm39)	S49P	possibly damaging	Het
Fhl5	G	T	4: 25,207,181 (GRCm39)	L196I	possibly damaging	Het
Gimap4	T	A	6: 48,667,872 (GRCm39)	V81D	probably damaging	Het
Gm4884	T	G	7: 40,693,150 (GRCm39)	M373R	probably damaging	Het
Gnrhr	C	T	5: 86,345,162 (GRCm39)		probably null	Het
H2-Oa	T	G	17: 34,313,537 (GRCm39)	L196R	probably damaging	Het
Icosl	T	C	10: 77,907,805 (GRCm39)	S122P	probably damaging	Het
Itpr3	A	G	17: 27,329,930 (GRCm39)	T1575A	probably benign	Het
Krt80	T	C	15: 101,247,879 (GRCm39)	K373E	possibly damaging	Het
Lamp1	G	A	8: 13,221,195 (GRCm39)		probably benign	Het
Npvf	T	C	6: 50,627,865 (GRCm39)	K185E	probably damaging	Het
Nuf2	A	G	1: 169,338,003 (GRCm39)	M258T	probably damaging	Het
Or6b2	T	C	1: 92,407,402 (GRCm39)		probably null	Het
Or8b36	G	A	9: 37,937,107 (GRCm39)	V2I	probably benign	Het
Smurf2	A	C	11: 106,726,921 (GRCm39)	I469S	probably damaging	Het
Soat1	T	A	1: 156,268,911 (GRCm39)	H180L	probably benign	Het
Spink5	G	T	18: 44,140,777 (GRCm39)	D659Y	probably damaging	Het
Sprtn	T	C	8: 125,627,037 (GRCm39)	M139T	probably damaging	Het
Tas2r140	T	C	6: 40,468,352 (GRCm39)	S61P	possibly damaging	Het
Tec	G	A	5: 72,944,141 (GRCm39)	L89F	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,107 (GRCm39)	M76L	probably benign	Het
Ttc7	A	C	17: 87,628,874 (GRCm39)	T271P	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,327 (GRCm39)	Y222N	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,601 (GRCm39)	M660K	probably benign	Het
Vmn2r52	T	A	7: 9,905,017 (GRCm39)	Y274F	probably damaging	Het
Wscd1	A	C	11: 71,679,768 (GRCm39)	N547T	possibly damaging	Het
Zfp335	C	A	2: 164,744,594 (GRCm39)	E394*	probably null	Het

Other mutations in Tyk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16