Incidental Mutation 'IGL02447:Tspan9'
ID 294036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan9
Ensembl Gene ENSMUSG00000030352
Gene Name tetraspanin 9
Synonyms 6720474K14Rik, 9430079M16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL02447
Quality Score
Status
Chromosome 6
Chromosomal Location 127938359-128120541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127941401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
Ref Sequence ENSEMBL: ENSMUSP00000107796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000146268] [ENSMUST00000202372] [ENSMUST00000154375]
AlphaFold Q8BJU2
Predicted Effect probably benign
Transcript: ENSMUST00000032503
AA Change: Y237C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: Y237C

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112171
AA Change: Y237C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: Y237C

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112173
AA Change: Y237C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: Y237C

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 230 1.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123786
SMART Domains Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 171 2.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127105
SMART Domains Protein: ENSMUSP00000115324
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 57 5.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145940
Predicted Effect probably benign
Transcript: ENSMUST00000146268
SMART Domains Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 122 2.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202141
Predicted Effect probably benign
Transcript: ENSMUST00000202372
SMART Domains Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 161 1.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154375
SMART Domains Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 127 3.4e-32 PFAM
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. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 T A 4: 144,401,269 (GRCm39) I72F probably benign Het
Abhd18 T A 3: 40,888,208 (GRCm39) F351I probably benign Het
Agfg1 T A 1: 82,859,944 (GRCm39) probably benign Het
Antxr2 C T 5: 98,178,267 (GRCm39) V48I possibly damaging Het
Bcl9l T C 9: 44,418,631 (GRCm39) M823T probably benign Het
Card11 G A 5: 140,892,679 (GRCm39) H129Y possibly damaging Het
Ccr1 A T 9: 123,763,753 (GRCm39) V259E probably benign Het
Cdk13 G T 13: 17,947,001 (GRCm39) P586T probably benign Het
Cep295 C T 9: 15,243,807 (GRCm39) V1502I probably damaging Het
Csnk1g3 T C 18: 54,028,942 (GRCm39) S32P probably benign Het
Dpysl4 G A 7: 138,678,516 (GRCm39) R492Q probably damaging Het
Duox2 A G 2: 122,127,949 (GRCm39) L78P probably damaging Het
Gm7361 T C 5: 26,462,853 (GRCm39) S32P probably benign Het
Grip1 T A 10: 119,855,976 (GRCm39) V234E probably damaging Het
Herc1 A T 9: 66,404,610 (GRCm39) I4477L possibly damaging Het
Il18r1 G A 1: 40,537,497 (GRCm39) probably null Het
Itpkb A G 1: 180,248,919 (GRCm39) probably benign Het
Jag2 T C 12: 112,876,232 (GRCm39) Y799C probably damaging Het
Jak2 A G 19: 29,277,014 (GRCm39) K857R probably damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Kcnc2 T G 10: 112,291,851 (GRCm39) D346E probably damaging Het
Kcnh1 T A 1: 191,907,224 (GRCm39) M92K possibly damaging Het
Kcnk1 A G 8: 126,751,819 (GRCm39) I142V probably damaging Het
Lsm11 T C 11: 45,828,191 (GRCm39) N196D probably damaging Het
Mpeg1 G T 19: 12,440,156 (GRCm39) C538F probably damaging Het
Nrap G A 19: 56,333,951 (GRCm39) Q969* probably null Het
Nt5el A T 13: 105,236,967 (GRCm39) S73C probably damaging Het
Nup205 T C 6: 35,204,511 (GRCm39) probably null Het
Pdcd5 A G 7: 35,342,110 (GRCm39) V166A possibly damaging Het
Plcb2 A T 2: 118,543,636 (GRCm39) I745N probably damaging Het
Ptprt T C 2: 162,120,027 (GRCm39) T147A probably benign Het
Rbp3 A T 14: 33,676,460 (GRCm39) D136V probably damaging Het
Ripor3 G T 2: 167,834,750 (GRCm39) T247N probably damaging Het
Sgcd A C 11: 46,870,082 (GRCm39) probably benign Het
Slc26a6 T C 9: 108,734,251 (GRCm39) Y211H probably benign Het
Slc37a3 T A 6: 39,314,129 (GRCm39) E494D probably benign Het
Smc5 T C 19: 23,234,856 (GRCm39) E326G probably benign Het
Tctn2 T C 5: 124,753,316 (GRCm39) noncoding transcript Het
Tk2 T A 8: 104,967,770 (GRCm39) N93I probably damaging Het
Tmed6 A G 8: 107,792,240 (GRCm39) F2L possibly damaging Het
Tox3 A G 8: 90,984,781 (GRCm39) probably benign Het
Ubqlnl A G 7: 103,797,856 (GRCm39) L547P probably damaging Het
Uggt1 T C 1: 36,189,223 (GRCm39) D1421G probably damaging Het
Unc80 T A 1: 66,542,703 (GRCm39) I319K possibly damaging Het
Vac14 A G 8: 111,380,260 (GRCm39) D441G probably benign Het
Vamp8 C T 6: 72,365,316 (GRCm39) V5M probably damaging Het
Yeats2 T A 16: 20,012,429 (GRCm39) H560Q probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp773 G T 7: 7,139,655 (GRCm39) probably benign Het
Other mutations in Tspan9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02551:Tspan9 APN 6 127,942,726 (GRCm39) missense probably null 1.00
IGL03277:Tspan9 APN 6 127,944,038 (GRCm39) splice site probably null
R0078:Tspan9 UTSW 6 127,943,448 (GRCm39) critical splice acceptor site probably null
R0717:Tspan9 UTSW 6 127,943,343 (GRCm39) critical splice donor site probably null
R3978:Tspan9 UTSW 6 127,944,210 (GRCm39) missense probably damaging 1.00
R4060:Tspan9 UTSW 6 128,011,135 (GRCm39) missense probably benign 0.03
R6944:Tspan9 UTSW 6 127,942,769 (GRCm39) missense probably benign 0.31
R7111:Tspan9 UTSW 6 127,942,726 (GRCm39) missense probably null 1.00
R7524:Tspan9 UTSW 6 127,942,214 (GRCm39) missense probably benign 0.22
R8140:Tspan9 UTSW 6 127,942,241 (GRCm39) missense probably damaging 0.99
R9063:Tspan9 UTSW 6 127,944,072 (GRCm39) missense probably damaging 1.00
R9159:Tspan9 UTSW 6 127,943,717 (GRCm39) missense possibly damaging 0.83
R9367:Tspan9 UTSW 6 127,944,102 (GRCm39) missense probably damaging 1.00
R9405:Tspan9 UTSW 6 127,944,124 (GRCm39) missense probably benign 0.00
R9711:Tspan9 UTSW 6 127,942,715 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16