Incidental Mutation 'R3978:Tspan9'
ID 311120
Institutional Source Beutler Lab
Gene Symbol Tspan9
Ensembl Gene ENSMUSG00000030352
Gene Name tetraspanin 9
Synonyms 6720474K14Rik, 9430079M16Rik
MMRRC Submission 040941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R3978 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 127938359-128120541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127944210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000115324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032503] [ENSMUST00000112171] [ENSMUST00000112173] [ENSMUST00000123786] [ENSMUST00000127105] [ENSMUST00000145940] [ENSMUST00000146268] [ENSMUST00000154375] [ENSMUST00000202372]
AlphaFold Q8BJU2
Predicted Effect probably damaging
Transcript: ENSMUST00000032503
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032503
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112171
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107794
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112173
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107796
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 230 1.7e-55 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123786
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115922
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 171 2.9e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127105
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115324
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 57 5.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145940
Predicted Effect probably damaging
Transcript: ENSMUST00000146268
AA Change: V30A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116142
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 122 2.3e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154375
AA Change: V30A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114763
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 127 3.4e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202372
AA Change: V30A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143827
Gene: ENSMUSG00000030352
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 161 1.5e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202141
Meta Mutation Damage Score 0.5031 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T possibly damaging Het
Other mutations in Tspan9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02447:Tspan9 APN 6 127,941,401 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GCAATGTCTGTGGACTTCAGC -3'
(R):5'- CGTCCCATTTACTGTAGGGGAG -3'

Sequencing Primer
(F):5'- CTGTGGACTTCAGCTAGGGAG -3'
(R):5'- ACCGAGGCATGCAGTGAC -3'
Posted On 2015-04-29