Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Tspan8'

208016

Institutional Source

Beutler Lab

Gene Symbol

Tspan8

Ensembl Gene

ENSMUSG00000034127

Gene Name

tetraspanin 8

Synonyms

Tm4sf3, E330007O21Rik

MMRRC Submission

039874-MU

Accession Numbers

Essential gene?

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

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115652737-115685798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115669130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 55 (A55V)

Ref Sequence

ENSEMBL: ENSMUSP00000136645 (fasta)

Gene Model

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

AlphaFold

Q8R3G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035563
AA Change: A55V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: A55V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080630
AA Change: A55V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: A55V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179196
AA Change: A55V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: A55V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217900
AA Change: A55V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220081

Meta Mutation Damage Score

0.1936

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Camk1d	T	C	2: 5,366,826 (GRCm39)	M130V	probably benign	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Igf1	A	C	10: 87,697,236 (GRCm39)	T2P	possibly damaging	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Pparg	T	A	6: 115,427,941 (GRCm39)	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Scg3	C	T	9: 75,589,449 (GRCm39)	S35N	possibly damaging	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,668,700 (GRCm39)	W181R	probably damaging	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	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
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'- ATAAAATGTGAGCTGCGCCGG -3'
(R):5'- AAGCTTGGCAAGGACAAGTC -3'

Sequencing Primer
(F):5'- GGTTTAGGTCACAAAAGTTTCTCAGG -3'
(R):5'- CTTGGCAAGGACAAGTCTTGTGAC -3'

Posted On

2014-06-23