Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01997:Tyk2'

182126

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 #

IGL01997

Quality Score

Status

Chromosome

Chromosomal Location

21015364-21042539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21021790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 879 (F879L)

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: F879L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001036
Gene: ENSMUSG00000032175
AA Change: F879L

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: F856L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216874
AA Change: F879L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
Ahctf1	G	A	1: 179,583,027 (GRCm39)	T83I	probably damaging	Het
Aoah	A	T	13: 21,184,108 (GRCm39)	M391L	probably benign	Het
Apc	A	G	18: 34,448,476 (GRCm39)	T1757A	probably benign	Het
B4galt5	A	G	2: 167,143,261 (GRCm39)	Y388H	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
Dcbld1	A	G	10: 52,193,206 (GRCm39)	E246G	probably damaging	Het
Fstl4	T	A	11: 53,053,881 (GRCm39)	Y404*	probably null	Het
Gnat3	G	T	5: 18,204,721 (GRCm39)	E125*	probably null	Het
Hspa5	C	T	2: 34,662,327 (GRCm39)		probably benign	Het
Krt72	A	G	15: 101,693,315 (GRCm39)	S200P	probably damaging	Het
Mab21l3	G	A	3: 101,725,955 (GRCm39)	T347I	probably damaging	Het
Map2k7	A	G	8: 4,293,442 (GRCm39)	E104G	probably benign	Het
Map3k9	T	C	12: 81,819,471 (GRCm39)	D261G	probably damaging	Het
Mepe	C	T	5: 104,485,466 (GRCm39)	P202L	probably damaging	Het
Mill1	G	A	7: 17,989,814 (GRCm39)	G32D	probably damaging	Het
Mmp20	T	G	9: 7,639,261 (GRCm39)	M143R	probably benign	Het
Mms19	A	T	19: 41,944,970 (GRCm39)	L302H	probably damaging	Het
Myh13	T	A	11: 67,257,992 (GRCm39)	I1728K	probably benign	Het
Nsun2	C	T	13: 69,771,365 (GRCm39)	P290L	probably damaging	Het
Nwd2	A	T	5: 63,961,938 (GRCm39)	R507S	probably damaging	Het
Os9	T	A	10: 126,955,312 (GRCm39)	H147L	probably benign	Het
Piezo1	T	C	8: 123,215,070 (GRCm39)		probably benign	Het
Plekhf1	A	T	7: 37,920,752 (GRCm39)	V272D	probably damaging	Het
Pnisr	T	C	4: 21,871,537 (GRCm39)	I419T	possibly damaging	Het
Ppp1r3d	G	T	2: 178,055,447 (GRCm39)	T185K	possibly damaging	Het
Ppp2r2a	C	T	14: 67,253,968 (GRCm39)	S400N	probably benign	Het
Rpl21	T	C	5: 146,772,418 (GRCm39)	I96T	probably benign	Het
S1pr3	C	T	13: 51,573,751 (GRCm39)	R311W	probably damaging	Het
Senp5	T	C	16: 31,782,288 (GRCm39)	K736R	probably damaging	Het
Slfn9	T	C	11: 82,878,503 (GRCm39)	I209V	possibly damaging	Het
Traf3ip1	T	A	1: 91,435,292 (GRCm39)		probably null	Het
Vmn2r53	T	C	7: 12,316,373 (GRCm39)	D482G	possibly damaging	Het
Vmn2r65	A	G	7: 84,589,978 (GRCm39)	F646S	probably damaging	Het
Vps13b	T	A	15: 35,709,370 (GRCm39)	S1772R	probably damaging	Het
Vwde	C	T	6: 13,215,705 (GRCm39)	C117Y	probably damaging	Het
Zfyve26	T	C	12: 79,291,174 (GRCm39)	I2144V	probably benign	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
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

2014-05-07