Incidental Mutation 'IGL01993:Tspan8'
ID182090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan8
Ensembl Gene ENSMUSG00000034127
Gene Nametetraspanin 8
SynonymsTm4sf3, E330007O21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01993
Quality Score
Status
Chromosome10
Chromosomal Location115816832-115849893 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 115840008 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196]
Predicted Effect probably benign
Transcript: ENSMUST00000035563
SMART Domains Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 4.8e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080630
SMART Domains Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179196
SMART Domains Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127

DomainStartEndE-ValueType
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Fgd3 T C 13: 49,280,188 H345R possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hars C T 18: 36,770,212 G355D probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Psg16 T A 7: 17,093,706 S196T probably benign Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Slc38a1 G A 15: 96,624,046 T11M probably damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R probably damaging Het
Other mutations in Tspan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Tspan8 APN 10 115844139 splice site probably benign
IGL01738:Tspan8 APN 10 115817665 splice site probably null
IGL01755:Tspan8 APN 10 115835298 missense probably damaging 1.00
IGL02369:Tspan8 APN 10 115839877 missense probably benign 0.01
IGL02369:Tspan8 APN 10 115839878 missense probably benign 0.44
PIT4131001:Tspan8 UTSW 10 115817610 missense probably damaging 1.00
R1269:Tspan8 UTSW 10 115849382 missense probably damaging 0.97
R1693:Tspan8 UTSW 10 115844044 splice site probably benign
R1850:Tspan8 UTSW 10 115833225 missense probably damaging 0.98
R1975:Tspan8 UTSW 10 115844130 missense probably benign 0.00
R1976:Tspan8 UTSW 10 115844130 missense probably benign 0.00
R1977:Tspan8 UTSW 10 115844130 missense probably benign 0.00
R4058:Tspan8 UTSW 10 115835282 nonsense probably null
R4059:Tspan8 UTSW 10 115835282 nonsense probably null
R4999:Tspan8 UTSW 10 115817629 missense possibly damaging 0.91
R5879:Tspan8 UTSW 10 115833251 missense possibly damaging 0.89
R6290:Tspan8 UTSW 10 115827824 missense probably damaging 0.98
R6358:Tspan8 UTSW 10 115833227 missense probably benign 0.12
R6524:Tspan8 UTSW 10 115844079 missense probably benign
R8139:Tspan8 UTSW 10 115839897 missense probably benign 0.01
Posted On2014-05-07