Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00843:Tspan12'

27569

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: 0.179) question?

Stock #

IGL00843

Quality Score

Status

Chromosome

Chromosomal Location

21771395-21852515 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 21851082 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031678] [ENSMUST00000120965] [ENSMUST00000123116] [ENSMUST00000134635] [ENSMUST00000143531] [ENSMUST00000202353]

Predicted Effect

probably benign
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 benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000143531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200819

Predicted Effect

probably benign
Transcript: ENSMUST00000202353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202675

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bglap	A	G	3: 88,384,350		probably null	Het
Clcn2	T	C	16: 20,703,641	T772A	probably benign	Het
Cldn18	A	T	9: 99,698,821	F125I	probably benign	Het
Ehhadh	A	G	16: 21,762,629	S538P	possibly damaging	Het
Ets2	T	G	16: 95,709,793	F32V	probably benign	Het
F5	G	A	1: 164,211,791	R1990Q	probably benign	Het
Fetub	A	G	16: 22,929,629		probably benign	Het
Hecw1	C	T	13: 14,247,573	E983K	probably benign	Het
Hemgn	A	G	4: 46,396,240	M332T	probably benign	Het
Hmcn1	A	G	1: 150,610,713	I4314T	possibly damaging	Het
Impad1	T	C	4: 4,776,308		probably benign	Het
Lonrf2	C	A	1: 38,812,535		probably benign	Het
Lrrc9	T	C	12: 72,463,417	I430T	possibly damaging	Het
Lrrk2	T	C	15: 91,757,058	V1606A	possibly damaging	Het
Oog2	G	T	4: 144,195,172	L217F	probably damaging	Het
Plxnc1	T	C	10: 94,847,549	H791R	probably benign	Het
Prdm2	G	A	4: 143,134,314	S802L	probably damaging	Het
Prss32	T	A	17: 23,857,362	L233Q	probably damaging	Het
Rapgef6	T	A	11: 54,691,273	V1337E	probably benign	Het
Slc15a3	T	A	19: 10,853,263	M326K	probably null	Het
Slc25a54	A	T	3: 109,112,860	T397S	possibly damaging	Het
Slfn3	C	T	11: 83,213,431	T376M	probably damaging	Het
Stradb	T	A	1: 58,994,409	D410E	probably benign	Het
Tdh	T	C	14: 63,495,764	T178A	probably damaging	Het
Ube2b	A	T	11: 51,995,375	D50E	probably benign	Het
Zranb1	A	C	7: 132,949,893	H117P	probably benign	Het

Other mutations in Tspan12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02601:Tspan12	APN	6	21835379	unclassified	probably benign
IGL02992:Tspan12	APN	6	21799877	critical splice donor site	probably null
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

2013-04-17