Mutagenetix > Incidental Mutation

Incidental Mutation 'R6608:Tyk2'

526428

Institutional Source

Beutler Lab

Gene Symbol

Tyk2

Ensembl Gene

ENSMUSG00000032175

Gene Name

tyrosine kinase 2

Synonyms

JTK1

MMRRC Submission

044731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6608 (G1)

Quality Score

109.008

Status

Validated

Chromosome

Chromosomal Location

21015364-21042539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21019312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1014 (Q1014K)

Ref Sequence

ENSEMBL: ENSMUSP00000150214 (fasta)

Gene Model

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

AlphaFold

Q9R117

Predicted Effect

probably benign
Transcript: ENSMUST00000001036
AA Change: Q1037K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: Q1037K

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: Q1014K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216874
AA Change: Q1037K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.1678

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,770,555 (GRCm39)	T571A	probably benign	Het
Adamts18	A	T	8: 114,501,911 (GRCm39)	Y317N	probably damaging	Het
Adgrg5	T	C	8: 95,668,348 (GRCm39)	F470S	probably damaging	Het
AK157302	T	C	13: 21,679,794 (GRCm39)	S107P	probably damaging	Het
Ankrd31	A	G	13: 96,969,288 (GRCm39)	Y975C	probably damaging	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,096,705 (GRCm39)	Y267H	probably benign	Het
Cdan1	A	C	2: 120,557,161 (GRCm39)	I555R	possibly damaging	Het
Clns1a	A	G	7: 97,365,675 (GRCm39)	T226A	probably benign	Het
Col18a1	C	T	10: 76,948,628 (GRCm39)		probably benign	Het
Col5a3	C	A	9: 20,685,315 (GRCm39)	V1454L	unknown	Het
Coq6	G	A	12: 84,418,922 (GRCm39)	V309I	probably benign	Het
Decr2	C	T	17: 26,302,858 (GRCm39)	V173M	probably benign	Het
Dmgdh	G	A	13: 93,843,252 (GRCm39)	G363S	possibly damaging	Het
Dnah7a	A	T	1: 53,564,277 (GRCm39)	D1927E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epm2a	T	C	10: 11,266,731 (GRCm39)		probably null	Het
Gm1979	T	A	5: 26,206,094 (GRCm39)	H162L	probably benign	Het
Irag1	A	T	7: 110,487,758 (GRCm39)	S486T	probably damaging	Het
Knl1	A	G	2: 118,917,093 (GRCm39)	N1759D	probably damaging	Het
Man1b1	T	A	2: 25,233,263 (GRCm39)	V212E	probably damaging	Het
Marf1	A	G	16: 13,950,578 (GRCm39)	L936S	probably damaging	Het
Mki67	G	A	7: 135,300,090 (GRCm39)	T1648I	probably benign	Het
Or2n1c	T	C	17: 38,519,370 (GRCm39)	V78A	probably damaging	Het
Or3a1b	T	C	11: 74,012,454 (GRCm39)	V113A	probably benign	Het
Or5d40	A	G	2: 88,016,049 (GRCm39)	Y276C	possibly damaging	Het
Or6n2	A	G	1: 173,897,295 (GRCm39)	M144V	probably benign	Het
Parp11	A	G	6: 127,454,811 (GRCm39)	I110V	possibly damaging	Het
Pcdhb5	A	G	18: 37,454,876 (GRCm39)	T419A	probably damaging	Het
Pitpnm1	A	G	19: 4,160,875 (GRCm39)	D838G	probably damaging	Het
Rbm26	T	A	14: 105,389,934 (GRCm39)	N230I	probably damaging	Het
Rnf20	C	T	4: 49,650,051 (GRCm39)	S540F	probably benign	Het
Rsad1	T	C	11: 94,433,435 (GRCm39)	D417G	probably damaging	Het
Serpina3c	A	T	12: 104,115,883 (GRCm39)	N220K	probably benign	Het
Slc6a19	A	G	13: 73,832,091 (GRCm39)	L495P	probably damaging	Het
Stard7	A	T	2: 127,132,715 (GRCm39)	K194N	probably damaging	Het
Tinagl1	A	G	4: 130,066,782 (GRCm39)	M105T	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Usp10	C	T	8: 120,675,161 (GRCm39)	R461W	probably benign	Het
Wsb1	C	T	11: 79,131,188 (GRCm39)	E403K	probably benign	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zp1	C	T	19: 10,896,344 (GRCm39)	C127Y	possibly damaging	Het
Zzef1	T	A	11: 72,803,652 (GRCm39)	F2466L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGTCCTTAAGCCACGC -3'
(R):5'- GTAGAGATTTGCGTTTGACCC -3'

Sequencing Primer
(F):5'- TGCCCCCTCCGACAATG -3'
(R):5'- GCGTTTGACCCTTCCCACAAAG -3'

Posted On

2018-06-25