Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00972:Tspan8'

28420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan8

Ensembl Gene

ENSMUSG00000034127

Gene Name

tetraspanin 8

Synonyms

Tm4sf3, E330007O21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

115652737-115685798 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 115680044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196]

AlphaFold

Q8R3G9

Predicted Effect

probably benign
Transcript: ENSMUST00000035563

SMART Domains

Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	232	4.8e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080630

SMART Domains

Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	232	8.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179196

SMART Domains

Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	232	8.3e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220081

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. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,484 (GRCm39)	F23L	probably damaging	Het
Abcf3	A	T	16: 20,370,434 (GRCm39)	M320L	probably damaging	Het
Adam4	A	T	12: 81,467,423 (GRCm39)	H399Q	probably damaging	Het
Ank1	A	G	8: 23,631,660 (GRCm39)	K140E	probably damaging	Het
Atg2a	G	A	19: 6,304,629 (GRCm39)	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 98,850,906 (GRCm39)	I34N	probably damaging	Het
Bin1	A	T	18: 32,557,887 (GRCm39)	E260V	probably benign	Het
Birc2	G	A	9: 7,833,716 (GRCm39)	S255L	probably benign	Het
Cdc42bpa	A	G	1: 179,902,249 (GRCm39)	Q502R	probably benign	Het
Cep170	A	G	1: 176,563,262 (GRCm39)	V1584A	probably benign	Het
Commd3	A	T	2: 18,679,476 (GRCm39)	R120S	probably benign	Het
Cyp39a1	A	T	17: 44,012,434 (GRCm39)	I304L	probably benign	Het
Cyp3a44	A	T	5: 145,716,534 (GRCm39)	M352K	possibly damaging	Het
Dna2	T	C	10: 62,786,602 (GRCm39)	Y117H	probably benign	Het
Dnah6	A	G	6: 73,060,140 (GRCm39)		probably benign	Het
Dsc1	G	A	18: 20,221,420 (GRCm39)	P685L	probably benign	Het
Efna5	T	A	17: 62,920,374 (GRCm39)	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,827,365 (GRCm39)	F96S	probably benign	Het
Fig4	A	T	10: 41,127,784 (GRCm39)	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992 (GRCm39)	I210N	probably damaging	Het
Fmnl1	T	C	11: 103,071,781 (GRCm39)	V96A	probably damaging	Het
Gabra1	T	G	11: 42,024,453 (GRCm39)	E407D	probably benign	Het
Gm5277	A	T	3: 78,799,593 (GRCm39)		noncoding transcript	Het
H2-M10.5	A	T	17: 37,084,227 (GRCm39)	E63V	possibly damaging	Het
Icam5	T	A	9: 20,945,993 (GRCm39)	V275E	probably damaging	Het
Kel	G	A	6: 41,665,000 (GRCm39)	A588V	possibly damaging	Het
Klra5	T	A	6: 129,883,568 (GRCm39)	E96D	probably damaging	Het
Limd1	C	T	9: 123,309,141 (GRCm39)	T280I	probably benign	Het
Mul1	C	A	4: 138,165,628 (GRCm39)	S95*	probably null	Het
Nlrp4a	T	C	7: 26,156,473 (GRCm39)	S733P	probably benign	Het
Ntn1	T	A	11: 68,104,098 (GRCm39)	I517F	possibly damaging	Het
Ntrk3	T	A	7: 77,897,070 (GRCm39)	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,858,572 (GRCm39)	L226R	possibly damaging	Het
Or1ad6	A	T	11: 50,859,946 (GRCm39)	M34L	probably benign	Het
Or4f61	A	T	2: 111,922,439 (GRCm39)	N202K	probably damaging	Het
Or5ac17	A	G	16: 59,036,829 (GRCm39)	I49T	probably damaging	Het
Pibf1	T	A	14: 99,416,885 (GRCm39)	L486*	probably null	Het
Pla2g4c	A	G	7: 13,074,583 (GRCm39)	Y253C	probably benign	Het
Rims3	C	A	4: 120,748,583 (GRCm39)	A268E	probably benign	Het
Rpl12	T	C	2: 32,853,759 (GRCm39)	I129T	probably benign	Het
Rsl1	A	T	13: 67,329,862 (GRCm39)	K103N	probably benign	Het
Scn11a	A	T	9: 119,623,004 (GRCm39)	W612R	probably benign	Het
Sdk2	G	A	11: 113,745,210 (GRCm39)	T695M	possibly damaging	Het
Slc17a1	T	A	13: 24,062,437 (GRCm39)		probably benign	Het
Stam	A	T	2: 14,120,779 (GRCm39)		probably benign	Het
Tacr3	T	G	3: 134,638,116 (GRCm39)	N424K	probably benign	Het
Tas1r2	C	T	4: 139,387,347 (GRCm39)	R240W	probably damaging	Het
Tle1	T	C	4: 72,040,637 (GRCm39)	R648G	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trip11	T	C	12: 101,860,596 (GRCm39)	I250V	probably null	Het
Vmn1r128	A	G	7: 21,084,001 (GRCm39)	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,368,558 (GRCm39)	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,996,903 (GRCm39)	E122G	probably benign	Het
Zfp27	A	T	7: 29,594,383 (GRCm39)	N527K	probably damaging	Het

Other mutations in Tspan8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01738:Tspan8	APN	10	115,653,570 (GRCm39)	splice site	probably null
IGL01755:Tspan8	APN	10	115,671,203 (GRCm39)	missense	probably damaging	1.00
IGL01993:Tspan8	APN	10	115,675,913 (GRCm39)	splice site	probably benign
IGL02369:Tspan8	APN	10	115,675,783 (GRCm39)	missense	probably benign	0.44
IGL02369:Tspan8	APN	10	115,675,782 (GRCm39)	missense	probably benign	0.01
BB001:Tspan8	UTSW	10	115,669,229 (GRCm39)	critical splice donor site	probably null
BB011:Tspan8	UTSW	10	115,669,229 (GRCm39)	critical splice donor site	probably null
PIT4131001:Tspan8	UTSW	10	115,653,515 (GRCm39)	missense	probably damaging	1.00
R1269:Tspan8	UTSW	10	115,685,287 (GRCm39)	missense	probably damaging	0.97
R1693:Tspan8	UTSW	10	115,679,949 (GRCm39)	splice site	probably benign
R1850:Tspan8	UTSW	10	115,669,130 (GRCm39)	missense	probably damaging	0.98
R1975:Tspan8	UTSW	10	115,680,035 (GRCm39)	missense	probably benign	0.00
R1976:Tspan8	UTSW	10	115,680,035 (GRCm39)	missense	probably benign	0.00
R1977:Tspan8	UTSW	10	115,680,035 (GRCm39)	missense	probably benign	0.00
R4058:Tspan8	UTSW	10	115,671,187 (GRCm39)	nonsense	probably null
R4059:Tspan8	UTSW	10	115,671,187 (GRCm39)	nonsense	probably null
R4999:Tspan8	UTSW	10	115,653,534 (GRCm39)	missense	possibly damaging	0.91
R5879:Tspan8	UTSW	10	115,669,156 (GRCm39)	missense	possibly damaging	0.89
R6290:Tspan8	UTSW	10	115,663,729 (GRCm39)	missense	probably damaging	0.98
R6358:Tspan8	UTSW	10	115,669,132 (GRCm39)	missense	probably benign	0.12
R6524:Tspan8	UTSW	10	115,679,984 (GRCm39)	missense	probably benign
R7924:Tspan8	UTSW	10	115,669,229 (GRCm39)	critical splice donor site	probably null
R8139:Tspan8	UTSW	10	115,675,802 (GRCm39)	missense	probably benign	0.01
R9427:Tspan8	UTSW	10	115,669,213 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17