Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Tyk2'

92247

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 #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

21104068-21131243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21120576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 401 (D401G)

Ref Sequence

ENSEMBL: ENSMUSP00000150354 (fasta)

Gene Model

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

AlphaFold

Q9R117

Predicted Effect

probably damaging
Transcript: ENSMUST00000001036
AA Change: D401G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: D401G

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: D378G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000214864

Predicted Effect

probably damaging
Transcript: ENSMUST00000216874
AA Change: D401G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Tyk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Tyk2	APN	9	21120588	missense	probably benign	0.27
IGL01015:Tyk2	APN	9	21120700	missense	probably benign	0.00
IGL01096:Tyk2	APN	9	21108863	missense	probably damaging	1.00
IGL01410:Tyk2	APN	9	21109364	missense	probably damaging	1.00
IGL01997:Tyk2	APN	9	21110494	missense	probably damaging	1.00
IGL02249:Tyk2	APN	9	21120407	missense	probably damaging	1.00
IGL02407:Tyk2	APN	9	21109227	splice site	probably benign
IGL02538:Tyk2	APN	9	21111043	missense	possibly damaging	0.94
IGL03185:Tyk2	APN	9	21109384	missense	probably damaging	1.00
conspiracy	UTSW	9	21108776	nonsense	probably null
fringe	UTSW	9	21108860	missense	probably benign	0.35
leonard	UTSW	9	21127120	splice site	probably benign
motorbike	UTSW	9	21105107	missense	probably damaging	1.00
tyke	UTSW	9	21124954	missense	probably damaging	1.00
ANU74:Tyk2	UTSW	9	21116158	missense	probably damaging	1.00
R0355:Tyk2	UTSW	9	21114190	splice site	probably null
R0667:Tyk2	UTSW	9	21108871	missense	probably damaging	1.00
R0862:Tyk2	UTSW	9	21116167	missense	probably benign	0.00
R0883:Tyk2	UTSW	9	21111137	missense	possibly damaging	0.61
R1554:Tyk2	UTSW	9	21107922	missense	probably damaging	0.96
R1575:Tyk2	UTSW	9	21115462	missense	probably benign	0.00
R1664:Tyk2	UTSW	9	21120353	missense	probably damaging	1.00
R1676:Tyk2	UTSW	9	21115249	nonsense	probably null
R1843:Tyk2	UTSW	9	21121554	nonsense	probably null
R1871:Tyk2	UTSW	9	21121441	missense	probably damaging	1.00
R2044:Tyk2	UTSW	9	21120341	missense	probably damaging	1.00
R2137:Tyk2	UTSW	9	21110985	intron	probably benign
R2197:Tyk2	UTSW	9	21115207	missense	probably damaging	1.00
R2883:Tyk2	UTSW	9	21110587	missense	probably benign	0.01
R2941:Tyk2	UTSW	9	21111119	missense	probably benign	0.00
R3001:Tyk2	UTSW	9	21109321	missense	probably benign	0.00
R3002:Tyk2	UTSW	9	21109321	missense	probably benign	0.00
R3196:Tyk2	UTSW	9	21124032	missense	possibly damaging	0.80
R3622:Tyk2	UTSW	9	21127310	missense	probably damaging	0.98
R4024:Tyk2	UTSW	9	21115919	missense	probably damaging	1.00
R4459:Tyk2	UTSW	9	21124415	missense	probably damaging	1.00
R4604:Tyk2	UTSW	9	21108009	missense	probably damaging	1.00
R4664:Tyk2	UTSW	9	21114207	missense	probably damaging	0.99
R4666:Tyk2	UTSW	9	21114207	missense	probably damaging	0.99
R4915:Tyk2	UTSW	9	21111137	missense	probably benign	0.41
R4971:Tyk2	UTSW	9	21120501	critical splice donor site	probably null
R5014:Tyk2	UTSW	9	21115830	splice site	probably null
R5191:Tyk2	UTSW	9	21107497	missense	probably damaging	0.98
R5305:Tyk2	UTSW	9	21109381	missense	probably damaging	0.99
R5356:Tyk2	UTSW	9	21115744	missense	probably benign	0.03
R5501:Tyk2	UTSW	9	21121612	missense	probably damaging	1.00
R6025:Tyk2	UTSW	9	21115960	missense	probably benign	0.05
R6113:Tyk2	UTSW	9	21107922	missense	probably damaging	1.00
R6159:Tyk2	UTSW	9	21110504	missense	probably damaging	0.99
R6608:Tyk2	UTSW	9	21108016	missense	probably benign	0.02
R6610:Tyk2	UTSW	9	21108016	missense	probably benign	0.02
R6612:Tyk2	UTSW	9	21108016	missense	probably benign	0.02
R6870:Tyk2	UTSW	9	21124954	missense	probably damaging	1.00
R7216:Tyk2	UTSW	9	21120526	missense	probably benign	0.01
R7218:Tyk2	UTSW	9	21105054	missense	probably damaging	1.00
R7298:Tyk2	UTSW	9	21108860	missense	probably benign	0.35
R7322:Tyk2	UTSW	9	21110204	missense	probably benign
R7347:Tyk2	UTSW	9	21108034	missense	probably damaging	0.99
R7759:Tyk2	UTSW	9	21120258	critical splice donor site	probably null
R7840:Tyk2	UTSW	9	21124967	missense	probably damaging	1.00
R7854:Tyk2	UTSW	9	21115480	missense	probably benign
R7914:Tyk2	UTSW	9	21121555	missense	probably benign	0.01
R8312:Tyk2	UTSW	9	21115649	missense	possibly damaging	0.69
R8892:Tyk2	UTSW	9	21116167	missense	probably benign	0.00
R8934:Tyk2	UTSW	9	21127120	splice site	probably benign
R9013:Tyk2	UTSW	9	21105107	missense	probably damaging	1.00
R9091:Tyk2	UTSW	9	21124545	missense	probably damaging	1.00
R9097:Tyk2	UTSW	9	21108776	nonsense	probably null
R9104:Tyk2	UTSW	9	21115466	missense	possibly damaging	0.65
R9270:Tyk2	UTSW	9	21124545	missense	probably damaging	1.00
Z1177:Tyk2	UTSW	9	21105367	missense	probably benign
Z1177:Tyk2	UTSW	9	21108875	missense	probably damaging	1.00

Posted On

2013-12-09