Mutagenetix > Incidental Mutation

Incidental Mutation 'R9427:Tspan8'

712689

Institutional Source

Beutler Lab

Gene Symbol

Tspan8

Ensembl Gene

ENSMUSG00000034127

Gene Name

tetraspanin 8

Synonyms

Tm4sf3, E330007O21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115652737-115685798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115669213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 83 (C83R)

Ref Sequence

ENSEMBL: ENSMUSP00000049243 (fasta)

Gene Model

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

AlphaFold

Q8R3G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035563
AA Change: C83R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: C83R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080630
AA Change: C83R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: C83R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179196
AA Change: C83R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: C83R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217900
AA Change: C83R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,531,244 (GRCm39)	L458P	probably damaging	Het
Adgrl2	T	C	3: 148,526,068 (GRCm39)	N130S		Het
Adgrv1	T	C	13: 81,732,234 (GRCm39)	S161G	probably benign	Het
Aldh1l1	A	G	6: 90,536,903 (GRCm39)	D153G	probably benign	Het
Arhgap20	G	A	9: 51,754,991 (GRCm39)	S444N	probably damaging	Het
Bpifc	A	G	10: 85,812,129 (GRCm39)	F360L	probably benign	Het
Cacna1s	A	T	1: 136,012,090 (GRCm39)	I511F	probably benign	Het
Chdh	G	A	14: 29,758,806 (GRCm39)	V584I	probably benign	Het
Col12a1	T	C	9: 79,589,445 (GRCm39)	R1037G	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,816,992 (GRCm39)	N440D	unknown	Het
Dsel	A	T	1: 111,787,425 (GRCm39)	Y1037N	probably damaging	Het
Eloa	A	G	4: 135,748,935 (GRCm39)	M1T	probably null	Het
Elp2	C	G	18: 24,755,560 (GRCm39)	P436A	probably damaging	Het
Etv5	A	C	16: 22,218,112 (GRCm39)	S328A	probably damaging	Het
Fat3	A	T	9: 16,288,691 (GRCm39)	Y277*	probably null	Het
Fbxo38	A	T	18: 62,644,160 (GRCm39)	H899Q	probably benign	Het
Fstl5	T	C	3: 76,229,583 (GRCm39)	V128A		Het
Gm3371	T	C	14: 44,641,066 (GRCm39)	E166G		Het
Herc6	T	C	6: 57,636,722 (GRCm39)	S813P	probably damaging	Het
Ifnlr1	G	A	4: 135,426,142 (GRCm39)	G75D	probably damaging	Het
Kbtbd2	A	T	6: 56,756,132 (GRCm39)	C535S	probably damaging	Het
Lgr5	A	C	10: 115,288,913 (GRCm39)	L577W	probably damaging	Het
Limk1	A	T	5: 134,686,358 (GRCm39)	D590E	probably benign	Het
Lnpep	A	T	17: 17,795,609 (GRCm39)	S301T	probably benign	Het
Lrch1	A	C	14: 75,032,787 (GRCm39)	V521G	probably benign	Het
Lrrc71	T	C	3: 87,650,368 (GRCm39)	H235R	probably benign	Het
Mttp	A	G	3: 137,820,962 (GRCm39)	S282P	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or2t1	G	A	14: 14,328,456 (GRCm38)	G115D	probably damaging	Het
Or55b10	T	A	7: 102,143,206 (GRCm39)	T259S	probably benign	Het
Or5a3	T	C	19: 12,399,889 (GRCm39)	V72A		Het
Or5m13	T	C	2: 85,748,704 (GRCm39)	V145A	probably benign	Het
Or7a41	C	T	10: 78,871,395 (GRCm39)	T255I	probably damaging	Het
Or7c70	A	G	10: 78,682,906 (GRCm39)	V281A	probably damaging	Het
Pira12	T	G	7: 3,897,284 (GRCm39)		probably null	Het
Ppfia3	T	C	7: 45,008,213 (GRCm39)	Q219R	possibly damaging	Het
Prdm5	T	A	6: 65,771,321 (GRCm39)	M44K	possibly damaging	Het
Psmc5	T	C	11: 106,153,303 (GRCm39)	I315T	probably damaging	Het
Ptprd	T	A	4: 76,051,440 (GRCm39)	E27V	probably benign	Het
Rft1	T	A	14: 30,411,781 (GRCm39)	I443N	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slco1a5	A	G	6: 142,214,001 (GRCm39)	M40T	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tigit	T	C	16: 43,482,515 (GRCm39)	D73G	probably benign	Het
Tmem237	G	A	1: 59,159,213 (GRCm39)		probably benign	Het
Trim42	T	C	9: 97,247,874 (GRCm39)	D274G	probably damaging	Het
Trmt61a	C	A	12: 111,647,490 (GRCm39)	L196I	probably damaging	Het
Ttc7	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTG	17: 87,678,147 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Unc80	G	A	1: 66,594,158 (GRCm39)	G1179E	probably damaging	Het
Vmn2r2	A	G	3: 64,041,945 (GRCm39)	S257P	probably damaging	Het
Xpo6	G	T	7: 125,748,418 (GRCm39)	Y404*	probably null	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
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

Predicted Primers

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

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

Posted On

2022-05-16