Mutagenetix > Incidental Mutation

Incidental Mutation 'BB011:Tspan8'

642654

Institutional Source

Beutler Lab

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 #

BB011

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115652737-115685798 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 115669229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196] [ENSMUST00000217900]

AlphaFold

Q8R3G9

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000217900

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,383,281 (GRCm39)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 84,456,029 (GRCm39)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,353,731 (GRCm39)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,317,230 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,622,641 (GRCm39)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,658,602 (GRCm39)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,605,515 (GRCm39)	S65P	unknown	Het
Bbx	A	T	16: 50,044,671 (GRCm39)	L630H	probably damaging	Het
Cars1	T	C	7: 143,123,608 (GRCm39)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,486,824 (GRCm39)	H450Q	probably benign	Het
Cdt1	T	C	8: 123,296,091 (GRCm39)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm39)	H24L	probably benign	Het
Cilk1	T	C	9: 78,062,746 (GRCm39)	L260P	probably damaging	Het
Cnga4	T	A	7: 105,057,028 (GRCm39)	V480E	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dlc1	T	C	8: 37,038,570 (GRCm39)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,258,590 (GRCm39)	D1927G	probably benign	Het
Dscc1	A	T	15: 54,945,572 (GRCm39)	D374E	probably benign	Het
Eci2	G	A	13: 35,177,053 (GRCm39)	Q69*	probably null	Het
Ep300	C	A	15: 81,533,703 (GRCm39)	P1920Q	unknown	Het
Epha5	A	G	5: 84,232,705 (GRCm39)	Y629H	possibly damaging	Het
Fat2	G	A	11: 55,153,613 (GRCm39)	T3533I	probably benign	Het
Fat3	T	C	9: 15,910,593 (GRCm39)	N1803S	probably damaging	Het
Fcrl2	T	C	3: 87,166,840 (GRCm39)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcnt2	A	T	13: 41,072,040 (GRCm39)	K228*	probably null	Het
Gucy2c	A	T	6: 136,740,053 (GRCm39)	V258E	probably benign	Het
Hecw1	C	A	13: 14,497,113 (GRCm39)	L298F	probably damaging	Het
Hydin	T	G	8: 111,145,103 (GRCm39)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,829,524 (GRCm39)	Y131C	probably damaging	Het
Mpo	A	G	11: 87,685,666 (GRCm39)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,689,208 (GRCm39)	*202Q	probably null	Het
Mrps14	T	C	1: 160,024,559 (GRCm39)	V30A	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,281,631 (GRCm39)	G497W	probably damaging	Het
Nnt	A	T	13: 119,523,181 (GRCm39)	V237D	probably damaging	Het
Nox4	G	T	7: 87,023,589 (GRCm39)	V492L	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Or5ak23	T	C	2: 85,244,563 (GRCm39)	Y220C	probably benign	Het
Or6aa1	A	G	7: 86,043,938 (GRCm39)	I256T	probably damaging	Het
Pard3	A	G	8: 128,137,231 (GRCm39)	N861S	probably benign	Het
Pdlim4	G	A	11: 53,946,048 (GRCm39)	R230*	probably null	Het
Pinlyp	C	T	7: 24,241,550 (GRCm39)	V159M	possibly damaging	Het
Plcb1	A	T	2: 135,201,613 (GRCm39)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,309 (GRCm39)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,187,111 (GRCm39)	D382G	probably benign	Het
Prss16	A	T	13: 22,192,834 (GRCm39)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,804,884 (GRCm39)	D133G	probably benign	Het
Rasef	C	T	4: 73,659,166 (GRCm39)		probably null	Het
Rbak	A	G	5: 143,160,241 (GRCm39)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,666,016 (GRCm39)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb3c	A	G	1: 107,200,904 (GRCm39)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,506,376 (GRCm39)	Y211C	unknown	Het
Sorbs2	C	T	8: 46,248,507 (GRCm39)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,180,733 (GRCm39)	S58R	probably benign	Het
Spryd3	A	G	15: 102,026,762 (GRCm39)	I329T	probably benign	Het
St8sia2	G	A	7: 73,616,700 (GRCm39)	L113F	probably damaging	Het
Star	T	C	8: 26,299,883 (GRCm39)	I75T	possibly damaging	Het
Tasor2	A	T	13: 3,644,331 (GRCm39)	F129Y	possibly damaging	Het
Tdrd6	T	A	17: 43,938,697 (GRCm39)	I784F	possibly damaging	Het
Tex55	G	A	16: 38,632,826 (GRCm39)	Q369*	probably null	Het
Tsc22d4	A	G	5: 137,766,273 (GRCm39)	I144V	unknown	Het
Ttll9	C	T	2: 152,804,407 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,194,587 (GRCm39)	L1160R	unknown	Het
Ufd1	A	G	16: 18,642,035 (GRCm39)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,641,690 (GRCm39)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,568,295 (GRCm39)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,254 (GRCm39)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,139,476 (GRCm39)	E173G	probably damaging	Het
Zc3h6	T	C	2: 128,857,400 (GRCm39)	S640P	possibly damaging	Het

Other mutations in Tspan8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Tspan8	APN	10	115,680,044 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAGGGAAGGAATCTATACATCAG -3'
(R):5'- GAGCAAACTCAGATTTAAGCCGATAG -3'

Sequencing Primer
(F):5'- ACCCCTTCATTGCTGTGA -3'
(R):5'- GCTTGCAAAGTATAGCTACCCGTG -3'

Posted On

2020-08-01