Incidental Mutation 'IGL03277:Tspan9'
ID415471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan9
Ensembl Gene ENSMUSG00000030352
Gene Nametetraspanin 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL03277
Quality Score
Status
Chromosome6
Chromosomal Location127961396-128143594 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to G at 127967075 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000146268] [ENSMUST00000154375] [ENSMUST00000202372]
Predicted Effect probably null
Transcript: ENSMUST00000032503
SMART Domains Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112171
SMART Domains Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112173
SMART Domains Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 230 1.7e-55 PFAM
Predicted Effect probably null
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 null
Transcript: ENSMUST00000145940
Predicted Effect probably null
Transcript: ENSMUST00000146268
SMART Domains Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 122 2.3e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154375
SMART Domains Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 127 3.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202141
Predicted Effect probably null
Transcript: ENSMUST00000202372
SMART Domains Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 161 1.5e-40 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amt A G 9: 108,301,219 T342A probably benign Het
B3glct T C 5: 149,726,834 L134P probably damaging Het
Bms1 A T 6: 118,405,122 M485K probably benign Het
Chd6 T C 2: 160,983,061 N1226S probably null Het
Cpne2 T C 8: 94,548,372 Y3H probably benign Het
Dmxl2 A G 9: 54,404,220 V1739A probably damaging Het
Dnah7a T A 1: 53,630,322 T543S probably benign Het
Dock11 T G X: 36,013,950 V1000G probably benign Het
Ednrb T A 14: 103,843,299 N60Y probably benign Het
Eif3d A G 15: 77,959,649 M499T possibly damaging Het
Elmod1 G A 9: 53,925,988 L178F probably damaging Het
Fam214a G A 9: 75,009,232 R371Q probably damaging Het
Hrh4 T C 18: 13,015,883 S101P probably damaging Het
Ift172 A G 5: 31,267,298 V684A possibly damaging Het
Mtx2 A G 2: 74,868,404 T124A probably damaging Het
Nat3 T A 8: 67,547,689 H73Q probably benign Het
Ndst2 A G 14: 20,730,166 L2P possibly damaging Het
Nipsnap3a G T 4: 52,997,219 A162S probably benign Het
Olfr1030 T C 2: 85,984,173 I111T probably damaging Het
Olfr47 T G 6: 43,235,942 C111W probably damaging Het
Peg3 T C 7: 6,711,674 D183G probably damaging Het
Prlr A G 15: 10,328,801 E454G probably benign Het
Prom1 G A 5: 44,032,971 Q364* probably null Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sema5b A G 16: 35,651,312 D425G probably damaging Het
Slc16a7 A T 10: 125,230,691 C360S probably benign Het
Slc38a7 T A 8: 95,848,476 I59F probably damaging Het
Slc5a6 A G 5: 31,038,028 C449R possibly damaging Het
Slc9b1 T C 3: 135,390,508 Y357H possibly damaging Het
Snx17 A T 5: 31,195,740 probably benign Het
Stk32b A C 5: 37,628,976 M48R probably damaging Het
Tst A T 15: 78,405,321 N171K probably damaging Het
Vmn1r180 T A 7: 23,953,285 I291N probably damaging Het
Vmn2r32 T A 7: 7,474,252 D380V probably benign Het
Wdfy4 T C 14: 33,068,904 T2189A probably benign Het
Zbtb20 A G 16: 43,618,437 N640S possibly damaging Het
Zfp142 A G 1: 74,571,034 S1098P probably damaging Het
Other mutations in Tspan9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tspan9 APN 6 127964438 missense probably benign 0.03
IGL02551:Tspan9 APN 6 127965763 missense probably null 1.00
R0078:Tspan9 UTSW 6 127966485 critical splice acceptor site probably null
R0717:Tspan9 UTSW 6 127966380 critical splice donor site probably null
R3978:Tspan9 UTSW 6 127967247 missense probably damaging 1.00
R4060:Tspan9 UTSW 6 128034172 missense probably benign 0.03
R6944:Tspan9 UTSW 6 127965806 missense probably benign 0.31
R7111:Tspan9 UTSW 6 127965763 missense probably null 1.00
R7524:Tspan9 UTSW 6 127965251 missense probably benign 0.22
Posted On2016-08-02