Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Tigit'

88553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tigit

Ensembl Gene

ENSMUSG00000071552

Gene Name

T cell immunoreceptor with Ig and ITIM domains

Synonyms

ENSMUSG00000071552, Vstm3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

43648867-43664146 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43659522 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 137 (T137A)

Ref Sequence

ENSEMBL: ENSMUSP00000093770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096065]

Predicted Effect

probably benign
Transcript: ENSMUST00000096065
AA Change: T137A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093770
Gene: ENSMUSG00000071552
AA Change: T137A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	20	27	N/A	INTRINSIC
IG	31	128	3.15e-10	SMART
transmembrane domain	140	162	N/A	INTRINSIC

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 PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, antigen presenting cell stimuation of T cell proliferation, and susceptibility to EAE. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Tigit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02085:Tigit	APN	16	43649110	missense	probably benign
IGL02896:Tigit	APN	16	43662198	missense	probably benign	0.40
R0446:Tigit	UTSW	16	43662271	missense	probably damaging	1.00
R0648:Tigit	UTSW	16	43662038	missense	probably damaging	0.96
R1137:Tigit	UTSW	16	43649122	missense	probably benign	0.40
R1423:Tigit	UTSW	16	43649032	missense	probably benign	0.00
R1943:Tigit	UTSW	16	43649218	missense	probably benign	0.00
R4900:Tigit	UTSW	16	43649231	missense	probably damaging	0.98
R4921:Tigit	UTSW	16	43662017	missense	probably damaging	1.00
R7131:Tigit	UTSW	16	43662252	missense	probably damaging	1.00
Z1176:Tigit	UTSW	16	43661986	missense	probably damaging	0.99

Posted On

2013-11-18