Incidental Mutation 'IGL02551:Tspan9'
ID 298088
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 # IGL02551
Quality Score
Status
Chromosome 6
Chromosomal Location 127938359-128120541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127942726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 167 (D167G)
Ref Sequence ENSEMBL: ENSMUSP00000143827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000202372] [ENSMUST00000146268] [ENSMUST00000154375]
AlphaFold Q8BJU2
Predicted Effect probably damaging
Transcript: ENSMUST00000032503
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: D167G

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112171
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: D167G

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112173
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: D167G

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 230 1.7e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123786
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352
AA Change: D167G

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 null
Transcript: ENSMUST00000202372
AA Change: D167G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352
AA Change: D167G

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 161 1.5e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202141
Predicted Effect probably benign
Transcript: ENSMUST00000146268
SMART Domains Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352

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

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 127 3.4e-32 PFAM
Meta Mutation Damage Score 0.3282 question?
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,796,618 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,975,068 (GRCm39) I109V probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Adamts18 C A 8: 114,425,704 (GRCm39) C1186F probably damaging Het
Adamts5 A T 16: 85,666,926 (GRCm39) V522E possibly damaging Het
Adcy10 A G 1: 165,370,802 (GRCm39) T694A probably damaging Het
Adgra2 G A 8: 27,609,250 (GRCm39) V609I probably benign Het
Agbl3 A G 6: 34,800,006 (GRCm39) K638R possibly damaging Het
Alpk2 T A 18: 65,505,822 (GRCm39) N66I probably damaging Het
Ap3b1 T A 13: 94,554,599 (GRCm39) I245N probably damaging Het
Aqp9 A G 9: 71,039,922 (GRCm39) V120A probably damaging Het
Arhgef17 T C 7: 100,579,553 (GRCm39) E465G probably damaging Het
Btrc G T 19: 45,411,573 (GRCm39) C31F possibly damaging Het
Calhm2 G A 19: 47,121,539 (GRCm39) S210L probably damaging Het
Cnksr3 C A 10: 7,102,912 (GRCm39) K153N probably damaging Het
Cnr1 T C 4: 33,943,686 (GRCm39) S25P probably benign Het
Dnajc6 T A 4: 101,496,550 (GRCm39) W838R probably damaging Het
Fam78a T A 2: 31,959,568 (GRCm39) T181S probably damaging Het
Fat1 A G 8: 45,504,435 (GRCm39) T4600A probably damaging Het
Fbxo31 A T 8: 122,293,083 (GRCm39) Y101N probably damaging Het
Glmp A G 3: 88,232,389 (GRCm39) M1V probably null Het
Gsdmc T A 15: 63,673,782 (GRCm39) T168S probably benign Het
Has1 C T 17: 18,068,560 (GRCm39) V265I probably damaging Het
Hmcn2 A G 2: 31,344,823 (GRCm39) D4670G possibly damaging Het
Kcnj4 C T 15: 79,369,103 (GRCm39) M292I probably benign Het
Kmo A T 1: 175,465,485 (GRCm39) S80C probably damaging Het
Lrrc8d C T 5: 105,961,414 (GRCm39) T608I possibly damaging Het
Mical2 A T 7: 111,923,197 (GRCm39) N635I probably benign Het
Nags T C 11: 102,038,767 (GRCm39) S403P probably damaging Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Ncan A T 8: 70,555,112 (GRCm39) N1018K probably damaging Het
Notch3 T A 17: 32,373,705 (GRCm39) probably benign Het
Nup93 C T 8: 94,954,461 (GRCm39) Q53* probably null Het
Pdk2 T A 11: 94,919,412 (GRCm39) M288L probably benign Het
Pkd1 A G 17: 24,792,789 (GRCm39) Y1492C probably damaging Het
Pla2g12b T A 10: 59,239,692 (GRCm39) W34R probably damaging Het
Pla2g6 T A 15: 79,183,294 (GRCm39) D511V possibly damaging Het
Plin2 C A 4: 86,576,929 (GRCm39) M265I probably benign Het
Ppp6c A T 2: 39,096,669 (GRCm39) F78I probably damaging Het
Prop1 A T 11: 50,841,773 (GRCm39) M211K possibly damaging Het
Prr14l T A 5: 32,988,828 (GRCm39) E222D probably damaging Het
Rtkn A T 6: 83,128,905 (GRCm39) I454F probably damaging Het
Serinc2 T C 4: 130,154,567 (GRCm39) I226V probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slc13a3 G T 2: 165,266,493 (GRCm39) F348L probably damaging Het
Slc6a15 T A 10: 103,240,136 (GRCm39) probably benign Het
Spg7 G A 8: 123,803,717 (GRCm39) G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 (GRCm39) D40G probably benign Het
Tmcc2 A G 1: 132,285,317 (GRCm39) L683P probably damaging Het
Triobp T C 15: 78,857,689 (GRCm39) S1097P probably benign Het
Ttll6 T C 11: 96,045,526 (GRCm39) I581T probably benign Het
Usp29 A G 7: 6,966,352 (GRCm39) probably null Het
Vgll4 A G 6: 114,839,254 (GRCm39) W246R probably damaging Het
Vmn2r26 T C 6: 124,003,100 (GRCm39) V170A probably benign Het
Vmn2r62 T C 7: 42,437,930 (GRCm39) T185A probably benign Het
Vwce A G 19: 10,622,400 (GRCm39) H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 (GRCm39) E2194G possibly damaging Het
Other mutations in Tspan9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tspan9 APN 6 127,941,401 (GRCm39) missense probably benign 0.03
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