Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03185:Tyk2'

412440

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 #

IGL03185

Quality Score

Status

Chromosome

Chromosomal Location

21015364-21042539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21020680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 917 (N917S)

Ref Sequence

ENSEMBL: ENSMUSP00000150214 (fasta)

Gene Model

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

AlphaFold

Q9R117

Predicted Effect

probably damaging
Transcript: ENSMUST00000001036
AA Change: N940S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: N940S

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: N917S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216874
AA Change: N940S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,255,212 (GRCm39)	D77G	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Babam2	T	C	5: 31,859,376 (GRCm39)	I27T	possibly damaging	Het
Ccdc150	A	G	1: 54,339,482 (GRCm39)	E442G	probably damaging	Het
Ccdc92	A	G	5: 124,913,014 (GRCm39)	Y172H	probably damaging	Het
Chl1	T	A	6: 103,642,824 (GRCm39)	D187E	probably damaging	Het
Col6a4	A	T	9: 105,896,653 (GRCm39)	F1721I	probably damaging	Het
Corin	C	T	5: 72,490,124 (GRCm39)	G542D	probably damaging	Het
Dennd1c	C	T	17: 57,373,803 (GRCm39)	D587N	probably benign	Het
Dnah10	A	G	5: 124,894,707 (GRCm39)	Y3424C	probably damaging	Het
Echdc1	T	A	10: 29,207,836 (GRCm39)	F127I	possibly damaging	Het
F13b	T	A	1: 139,444,124 (GRCm39)	V486E	probably benign	Het
Fkbp15	C	T	4: 62,250,423 (GRCm39)		probably null	Het
Glt8d2	T	A	10: 82,498,110 (GRCm39)	I100F	probably damaging	Het
Gmip	C	T	8: 70,262,433 (GRCm39)	P10L	probably benign	Het
Grm7	T	C	6: 110,623,183 (GRCm39)	S119P	possibly damaging	Het
Klf4	T	C	4: 55,530,911 (GRCm39)	T58A	possibly damaging	Het
Mink1	T	C	11: 70,494,686 (GRCm39)	I289T	probably damaging	Het
Mptx2	A	T	1: 173,102,356 (GRCm39)	V111D	possibly damaging	Het
Muc5b	A	T	7: 141,416,559 (GRCm39)	E3168D	possibly damaging	Het
Mylk3	C	A	8: 86,053,833 (GRCm39)	V695F	probably damaging	Het
Or11j4	C	A	14: 50,630,855 (GRCm39)	T214K	probably damaging	Het
Or7g21	T	A	9: 19,033,034 (GRCm39)	V258E	probably damaging	Het
Pcare	A	T	17: 72,056,332 (GRCm39)	I1115K	probably damaging	Het
Pira13	A	G	7: 3,826,229 (GRCm39)	Y255H	probably damaging	Het
Poglut2	G	A	1: 44,156,359 (GRCm39)	S76L	probably benign	Het
Pprc1	C	A	19: 46,058,186 (GRCm39)		probably benign	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prss50	A	G	9: 110,687,279 (GRCm39)	Y74C	probably benign	Het
Rnf145	T	C	11: 44,422,157 (GRCm39)	L80P	probably damaging	Het
Serpinb3b	T	C	1: 107,084,662 (GRCm39)	I120V	probably benign	Het
Sgca	T	C	11: 94,861,610 (GRCm39)	M212V	probably benign	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc30a9	A	G	5: 67,490,406 (GRCm39)	R226G	probably benign	Het
Slc5a11	A	G	7: 122,864,412 (GRCm39)	D336G	possibly damaging	Het
Slfn8	T	C	11: 82,908,333 (GRCm39)	H70R	probably benign	Het
Stoml2	T	C	4: 43,029,065 (GRCm39)	N269S	probably benign	Het
Synrg	A	G	11: 83,872,305 (GRCm39)	E142G	probably damaging	Het
Thbs2	G	A	17: 14,901,672 (GRCm39)	Q436*	probably null	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp446	G	T	7: 12,712,925 (GRCm39)	V88F	probably null	Het
Zp3	A	G	5: 136,011,575 (GRCm39)	N131S	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
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

2016-08-02