Incidental Mutation 'IGL01755:Tspan8'
ID153182
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: 0.125) question?
Stock #IGL01755
Quality Score
Status
Chromosome10
Chromosomal Location115816832-115849893 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 115835298 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 120 (T120M)
Ref Sequence ENSEMBL: ENSMUSP00000136645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196] [ENSMUST00000217900]
Predicted Effect probably damaging
Transcript: ENSMUST00000035563
AA Change: T120M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: T120M

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 4.8e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080630
AA Change: T120M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: T120M

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179196
AA Change: T120M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: T120M

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217900
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T A 17: 33,066,977 N284Y probably damaging Het
Atf6 A G 1: 170,788,611 I520T possibly damaging Het
Azgp1 A T 5: 137,989,847 K297M possibly damaging Het
Cyp2e1 A G 7: 140,774,556 probably null Het
Dapk1 C A 13: 60,761,175 L1201M probably damaging Het
Dapk1 T A 13: 60,761,176 L1201Q possibly damaging Het
Insrr A T 3: 87,814,186 D1133V probably damaging Het
Kcnc4 T C 3: 107,448,175 N319S probably damaging Het
Kctd1 A G 18: 15,062,637 C310R possibly damaging Het
Nefl A G 14: 68,086,077 D384G probably damaging Het
Nfatc3 A G 8: 106,127,921 N1029S probably benign Het
Nup107 T C 10: 117,774,493 Y348C probably damaging Het
Olfr1151 T A 2: 87,857,510 C112S possibly damaging Het
Olfr1472 T C 19: 13,453,815 K234R probably damaging Het
Phldb2 T C 16: 45,825,582 E212G probably damaging Het
Pirb A T 7: 3,717,170 N401K probably benign Het
Plcg2 T C 8: 117,621,241 F1183S possibly damaging Het
Plekhf2 A T 4: 10,991,308 N11K probably damaging Het
Slc7a11 A G 3: 50,424,067 Y241H probably benign Het
Sltm T G 9: 70,583,922 probably null Het
Taf4b A G 18: 14,897,985 T809A probably benign Het
Taf4b C A 18: 14,897,986 T809N probably benign Het
Tesk1 T C 4: 43,445,820 probably null Het
Ttn T G 2: 76,721,383 D31275A probably damaging Het
Vcl C A 14: 20,995,970 Q334K probably damaging Het
Zfp94 G A 7: 24,311,481 probably benign Het
Zkscan17 A G 11: 59,487,415 F314S 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
IGL01993:Tspan8 APN 10 115840008 splice site probably benign
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 On2014-02-04