Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Tyk2'

351936

Institutional Source

Beutler Lab

Gene Symbol

Tyk2

Ensembl Gene

ENSMUSG00000032175

Gene Name

tyrosine kinase 2

Synonyms

JTK1

MMRRC Submission

041924-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21104068-21131243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21114207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 741 (A741T)

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: A741T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: A741T

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: A718T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216874
AA Change: A741T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.4648

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,902	S12L	probably benign	Het
4921507P07Rik	G	T	6: 50,595,828	T35K	possibly damaging	Het
4931406P16Rik	T	C	7: 34,284,773	M142V	probably damaging	Het
Abce1	A	G	8: 79,687,486	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,492	N1278K	probably benign	Het
Adipor1	T	A	1: 134,424,905	I138N	probably damaging	Het
Aox2	C	T	1: 58,304,597	Q480*	probably null	Het
Arhgef38	C	T	3: 133,140,772		probably null	Het
Atmin	A	G	8: 116,957,959	D786G	probably damaging	Het
Capn1	A	T	19: 6,011,015	N253K	probably benign	Het
Cdh8	T	C	8: 99,024,902	T728A	possibly damaging	Het
Celsr1	A	G	15: 86,030,494	S1093P	probably damaging	Het
Cep135	C	A	5: 76,616,854	P560T	probably benign	Het
Chfr	C	T	5: 110,144,867	Q167*	probably null	Het
Chrna4	A	G	2: 181,037,493	S54P	probably damaging	Het
Cntln	A	G	4: 84,971,216	N312S	probably benign	Het
Cntn6	A	G	6: 104,728,284	E154G	probably benign	Het
Col6a6	T	A	9: 105,767,342	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,983,207	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933	E282K	probably benign	Het
Cryba2	C	T	1: 74,890,048	D179N	probably benign	Het
Daglb	A	T	5: 143,503,349	R654W	probably damaging	Het
Dennd3	A	G	15: 73,570,860	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,274,961	E405G	probably damaging	Het
Dnah10	T	C	5: 124,828,472	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,181,330	S238P	probably damaging	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Ebf1	A	G	11: 44,991,557	N447D	probably damaging	Het
Epg5	A	G	18: 78,012,864	N1751S	probably benign	Het
Exoc6	A	G	19: 37,570,505	D75G	probably damaging	Het
Extl2	T	A	3: 116,024,207	I70N	probably damaging	Het
Fam129c	G	T	8: 71,603,825	E390*	probably null	Het
Fanca	T	C	8: 123,268,972	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,894,910		probably null	Het
Foxa3	G	T	7: 19,014,372	C275*	probably null	Het
Foxred1	C	T	9: 35,210,855		probably benign	Het
Galr2	A	G	11: 116,283,629	T362A	probably benign	Het
Garem2	C	A	5: 30,114,667	R376S	probably damaging	Het
Gatc	T	A	5: 115,335,547	N111I	probably benign	Het
Gjb4	C	A	4: 127,351,778	K123N	probably damaging	Het
Gm14025	T	C	2: 129,038,230	H592R	probably benign	Het
Gm9894	T	C	13: 67,765,094		noncoding transcript	Het
Gtdc1	T	C	2: 44,591,925	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,421,205	I96V	probably benign	Het
Homer1	T	A	13: 93,402,159	I170N	probably damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Hoxb9	A	G	11: 96,274,831	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,571,336	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Lsm11	A	G	11: 45,933,813	S296P	probably damaging	Het
Macrod2	T	C	2: 142,217,599	L265P	probably damaging	Het
Mcu	G	A	10: 59,456,699	L53F	probably damaging	Het
Mpv17l2	A	G	8: 70,760,415	V104A	possibly damaging	Het
Myh10	G	A	11: 68,801,730		probably null	Het
Nemf	T	C	12: 69,312,280	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,531,405	S1395N	probably damaging	Het
Nlrp2	T	A	7: 5,319,189	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,336,780	L686*	probably null	Het
Nudt12os	T	A	17: 59,024,551		noncoding transcript	Het
Olfr1122	T	A	2: 87,387,876	I57K	probably damaging	Het
Olfr16	G	A	1: 172,957,590	S265N	probably benign	Het
Olfr180	T	C	16: 58,916,584	D19G	probably benign	Het
Olfr205	A	G	16: 59,329,210	Y100H	possibly damaging	Het
Olfr93	A	T	17: 37,151,379	S44T	possibly damaging	Het
Olfr944	T	A	9: 39,217,846	M163K	probably damaging	Het
Pde7a	T	C	3: 19,260,256	T59A	probably damaging	Het
Pde7b	A	C	10: 20,438,750	D203E	probably damaging	Het
Phkg2	T	A	7: 127,577,984	I94N	possibly damaging	Het
Pik3r2	G	A	8: 70,768,859	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,137,101	H68L	possibly damaging	Het
Prcd	A	G	11: 116,668,164		probably benign	Het
Prune2	C	T	19: 17,120,188	R1019*	probably null	Het
Psap	A	G	10: 60,300,545	D486G	probably benign	Het
Purb	A	T	11: 6,475,615	V91E	probably damaging	Het
Recql	C	A	6: 142,376,841	V112F	probably damaging	Het
Rptor	A	T	11: 119,743,882	I175F	probably damaging	Het
Sbf1	C	T	15: 89,295,246	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,655,613	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,538,581	N22K	possibly damaging	Het
Sorl1	A	T	9: 42,004,051	M1294K	probably damaging	Het
Sp6	C	A	11: 97,021,875	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408		probably benign	Het
Spon1	T	A	7: 114,028,969	M320K	probably benign	Het
Tceanc2	A	T	4: 107,165,560	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,314	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,671,271		probably null	Het
Tmprss11d	T	C	5: 86,309,401	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,337,496	V65D	probably damaging	Het
Trpm1	G	T	7: 64,203,034	L65F	probably damaging	Het
Ube2v1	T	A	2: 167,610,377	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,574,868	S95T	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,893,503	W1222L	possibly damaging	Het
Vcan	C	A	13: 89,679,934	W2171L	probably damaging	Het
Vmn1r64	T	C	7: 5,884,358	N62S	probably damaging	Het
Vmn2r67	T	C	7: 85,150,623	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,544	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,688,383	R216H	probably damaging	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
IGL01613:Tyk2	APN	9	21120576	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGAGACACGGTGATGG -3'
(R):5'- GTTCTCAAAGTACCAGCCTCATCC -3'

Sequencing Primer
(F):5'- GCTCAGAACTGTGGCTTA -3'
(R):5'- AGCTGAGCTCCACCATCTG -3'

Posted On

2015-10-08