Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Tspan8'

221601

Institutional Source

Beutler Lab

Gene Symbol

Tspan8

Ensembl Gene

ENSMUSG00000034127

Gene Name

tetraspanin 8

Synonyms

Tm4sf3, E330007O21Rik

MMRRC Submission

039988-MU

Accession Numbers

Essential gene?

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

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115652737-115685798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115680035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 217 (I217V)

Ref Sequence

ENSEMBL: ENSMUSP00000136645 (fasta)

Gene Model

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

AlphaFold

Q8R3G9

Predicted Effect

probably benign
Transcript: ENSMUST00000035563
AA Change: I217V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: I217V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080630
AA Change: I217V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: I217V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179196
AA Change: I217V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: I217V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220081

Meta Mutation Damage Score

0.0953

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Fblim1	A	T	4: 141,312,175 (GRCm39)	D183E	probably damaging	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Mylk	T	C	16: 34,700,673 (GRCm39)		probably null	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or52z14	A	G	7: 103,253,219 (GRCm39)		probably null	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Slco2a1	T	A	9: 102,956,653 (GRCm39)	Y488*	probably null	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	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
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'- CTTGGTACCAATATGAAAACGTCA -3'
(R):5'- GCCAAAATCAGAAATCCTGTCAGA -3'

Sequencing Primer
(F):5'- TATGAAAACGTCAACCTACTAGGAG -3'
(R):5'- TTGCTGAGACATTAGCCACG -3'

Posted On

2014-08-25