Incidental Mutation 'IGL02447:Vamp8'
ID 294013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vamp8
Ensembl Gene ENSMUSG00000050732
Gene Name vesicle-associated membrane protein 8
Synonyms endobrevin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.467) question?
Stock # IGL02447
Quality Score
Status
Chromosome 6
Chromosomal Location 72362204-72367650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72365316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 5 (V5M)
Ref Sequence ENSEMBL: ENSMUSP00000145955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059983] [ENSMUST00000142613]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059983
AA Change: V31M

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059501
Gene: ENSMUSG00000050732
AA Change: V31M

DomainStartEndE-ValueType
Pfam:Synaptobrevin 9 97 1.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142613
AA Change: V5M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]
PHENOTYPE: Nullizygous mutations of this gene can lead to altered mast cell degranulation, abnormal zymogen granule release from pancreatic acinar cells and dense core granule release from platelets, increased resistance to induced pancreatitis, hydronephrosis, and partial postnatal lethality. [provided by MGI curators]
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
Tspan9 T C 6: 127,941,401 (GRCm39) Y237C 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
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 Vamp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1584:Vamp8 UTSW 6 72,362,617 (GRCm39) missense probably damaging 1.00
R1713:Vamp8 UTSW 6 72,365,270 (GRCm39) missense probably benign 0.41
R2414:Vamp8 UTSW 6 72,365,326 (GRCm39) start codon destroyed probably null 0.17
R3020:Vamp8 UTSW 6 72,365,330 (GRCm39) missense possibly damaging 0.80
R4321:Vamp8 UTSW 6 72,362,536 (GRCm39) missense possibly damaging 0.90
R4889:Vamp8 UTSW 6 72,362,522 (GRCm39) missense possibly damaging 0.94
R8912:Vamp8 UTSW 6 72,365,276 (GRCm39) missense probably benign 0.19
R9378:Vamp8 UTSW 6 72,362,554 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16