Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02992:Tspan12'

407005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan12

Ensembl Gene

ENSMUSG00000029669

Gene Name

tetraspanin 12

Synonyms

Tm4sf12

Accession Numbers

Genbank: NM_173007; MGI: 1889818

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

21771395-21852515 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 21799877 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000031678] [ENSMUST00000120965] [ENSMUST00000120965] [ENSMUST00000123116] [ENSMUST00000123116] [ENSMUST00000134635]

Predicted Effect

probably null
Transcript: ENSMUST00000031678

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	248	1.1e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000031678

SMART Domains

Protein: ENSMUSP00000031678
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	248	1.1e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120965

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	156	4.1e-23	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120965

SMART Domains

Protein: ENSMUSP00000113384
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	156	4.1e-23	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123116

SMART Domains

Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	203	4.1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123116

SMART Domains

Protein: ENSMUSP00000117820
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	203	4.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134635

SMART Domains

Protein: ENSMUSP00000123475
Gene: ENSMUSG00000029669

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	129	1.8e-20	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,464	L684M	possibly damaging	Het
Abca4	A	G	3: 122,128,286	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,248		probably benign	Het
Arhgef12	T	C	9: 42,999,077	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Daw1	T	C	1: 83,197,213		probably benign	Het
Daxx	T	A	17: 33,911,748	C246S	probably damaging	Het
Dpp7	T	C	2: 25,354,577	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,737,924		probably benign	Het
Fcrls	T	G	3: 87,259,466	R73S	probably damaging	Het
Gatb	A	G	3: 85,618,916	D367G	probably damaging	Het
Gm20547	T	A	17: 34,857,119	E654V	probably damaging	Het
Gm839	T	A	6: 89,212,527		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,217,614	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,353,084	I174F	probably damaging	Het
Hrh3	A	G	2: 180,100,815	V308A	probably benign	Het
Ints9	A	G	14: 64,980,164	K47E	probably benign	Het
Irak3	A	T	10: 120,182,661	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,381,315	E614G	probably damaging	Het
Lgals3	A	T	14: 47,385,525	I214L	probably benign	Het
Msh4	G	T	3: 153,872,325	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,621,410	Q521K	probably damaging	Het
Naip5	T	A	13: 100,223,028	I567F	probably damaging	Het
Nf1	A	G	11: 79,434,933		probably benign	Het
Nlrc3	C	T	16: 3,954,023		probably benign	Het
Nlrc5	A	C	8: 94,506,573	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,190,566	I260F	probably damaging	Het
Pcnx	G	A	12: 81,964,120	R1211Q	probably damaging	Het
Pde10a	A	G	17: 8,949,461	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,622	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,297,927	S81P	probably damaging	Het
Pik3c2b	C	A	1: 133,066,980	Y227*	probably null	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Prkg2	T	G	5: 99,024,506	S117R	probably benign	Het
Prl3d2	A	T	13: 27,127,283	E179D	probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Scn10a	T	C	9: 119,609,560	T1748A	possibly damaging	Het
Sept10	T	C	10: 59,192,178	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550	N420I	probably damaging	Het
Sos1	A	G	17: 80,419,016	F835L	probably benign	Het
Spg11	T	C	2: 122,058,398	D2164G	probably damaging	Het
Svbp	A	G	4: 119,195,930	E8G	probably damaging	Het
Tgm3	T	A	2: 130,041,979	M519K	probably damaging	Het
Vps52	T	C	17: 33,958,350	V122A	probably damaging	Het
Wipf1	T	C	2: 73,434,083	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,294,451	D286E	possibly damaging	Het

Other mutations in Tspan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Tspan12	APN	6	21851082	utr 5 prime	probably benign
IGL02601:Tspan12	APN	6	21835379	unclassified	probably benign
PIT4362001:Tspan12	UTSW	6	21835464	missense	possibly damaging	0.87
R1800:Tspan12	UTSW	6	21795700	missense	probably damaging	1.00
R1862:Tspan12	UTSW	6	21851023	missense	probably damaging	1.00
R1898:Tspan12	UTSW	6	21795694	missense	probably damaging	0.97
R2101:Tspan12	UTSW	6	21799888	missense	probably benign	0.00
R2351:Tspan12	UTSW	6	21835507	missense	probably benign
R4820:Tspan12	UTSW	6	21795661	missense	probably damaging	0.99
R4921:Tspan12	UTSW	6	21835449	missense	possibly damaging	0.66
R5284:Tspan12	UTSW	6	21835467	missense	probably damaging	0.97
R5341:Tspan12	UTSW	6	21835459	missense	possibly damaging	0.69
R5372:Tspan12	UTSW	6	21772699	missense	probably benign	0.06
R5929:Tspan12	UTSW	6	21772747	missense	possibly damaging	0.92
R6052:Tspan12	UTSW	6	21772638	missense	probably benign	0.09
R6108:Tspan12	UTSW	6	21772771	missense	probably benign
R6207:Tspan12	UTSW	6	21799908	missense	probably damaging	1.00
R6248:Tspan12	UTSW	6	21799971	missense	probably damaging	1.00
R7014:Tspan12	UTSW	6	21772919	missense	probably benign	0.01
R7457:Tspan12	UTSW	6	21772683	missense	probably benign	0.09
R7776:Tspan12	UTSW	6	21836443	missense	probably damaging	1.00
ZE80:Tspan12	UTSW	6	21795609	missense	probably benign	0.14

Posted On

2016-08-02