Incidental Mutation 'IGL02972:Vamp1'
ID 365877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vamp1
Ensembl Gene ENSMUSG00000030337
Gene Name vesicle-associated membrane protein 1
Synonyms Syb1, VAMP-1, lew, Syb-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02972
Quality Score
Status
Chromosome 6
Chromosomal Location 125192544-125199269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125196610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 117 (R117L)
Ref Sequence ENSEMBL: ENSMUSP00000098503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032487] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000100942]
AlphaFold Q62442
Predicted Effect probably benign
Transcript: ENSMUST00000032487
SMART Domains Protein: ENSMUSP00000032487
Gene: ENSMUSG00000030337

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Pfam:Synaptobrevin 30 118 1.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043422
SMART Domains Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 202 306 1.11e-5 SMART
IGc1 321 397 3.97e-7 SMART
transmembrane domain 412 434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063588
SMART Domains Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Pfam:Synaptobrevin 30 118 5.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100942
AA Change: R117L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098503
Gene: ENSMUSG00000030337
AA Change: R117L

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Pfam:Synaptobrevin 30 116 1.9e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205223
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a spontaneous mutation show a 30% reduction in body size, do not attempt to right themselves, become visibly immobile and lay on their side by postnatal day 10, and display a general lack of purposeful movement and wasting leading to death prior to weaning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Bmpr1b C T 3: 141,576,519 (GRCm39) D105N probably benign Het
Ces2e A T 8: 105,653,693 (GRCm39) S44C probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chst15 T C 7: 131,870,902 (GRCm39) D211G probably damaging Het
Dpp4 T C 2: 62,182,569 (GRCm39) S571G probably damaging Het
Gna11 T C 10: 81,369,225 (GRCm39) I113V probably benign Het
Grm3 T C 5: 9,562,410 (GRCm39) Y480C probably damaging Het
Mccc1 C T 3: 36,039,238 (GRCm39) V252I possibly damaging Het
Nol12 A G 15: 78,824,799 (GRCm39) T209A probably damaging Het
Or2y14 G A 11: 49,404,918 (GRCm39) G151D probably damaging Het
Or52a33 A G 7: 103,289,101 (GRCm39) M82T probably damaging Het
Or7e168 T C 9: 19,720,238 (GRCm39) F208S probably damaging Het
P3h1 C A 4: 119,105,157 (GRCm39) Q712K possibly damaging Het
Per2 T A 1: 91,351,703 (GRCm39) E934D possibly damaging Het
Pfkl T C 10: 77,824,108 (GRCm39) D760G probably benign Het
Piezo2 C A 18: 63,197,856 (GRCm39) probably benign Het
Pkd1l1 C T 11: 8,813,908 (GRCm39) R1481Q probably damaging Het
Plpp3 T C 4: 105,065,989 (GRCm39) V189A possibly damaging Het
Pnpla1 A G 17: 29,105,921 (GRCm39) E592G probably null Het
Prdm2 A T 4: 142,858,736 (GRCm39) M1518K probably benign Het
Rhbdl3 G A 11: 80,222,742 (GRCm39) probably benign Het
Rnf145 C T 11: 44,454,865 (GRCm39) S582F probably benign Het
Rsf1 A G 7: 97,310,533 (GRCm39) D421G probably benign Het
Serac1 A C 17: 6,121,039 (GRCm39) L85* probably null Het
Slc43a1 T G 2: 84,690,462 (GRCm39) V460G probably damaging Het
Slc7a6 G A 8: 106,906,059 (GRCm39) C97Y probably damaging Het
Slco5a1 A T 1: 13,060,379 (GRCm39) L114* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taok1 A G 11: 77,450,584 (GRCm39) V396A probably benign Het
Tmem232 T A 17: 65,783,668 (GRCm39) H233L probably benign Het
Tmprss11c C T 5: 86,385,692 (GRCm39) S247N possibly damaging Het
Tnc C T 4: 63,894,715 (GRCm39) S1557N probably benign Het
Txlng A G X: 161,590,551 (GRCm39) M94T probably damaging Het
Ube2b A T 11: 51,879,509 (GRCm39) I87K probably damaging Het
Ubr5 A T 15: 38,042,196 (GRCm39) S133R probably damaging Het
Ugt1a5 C T 1: 88,094,144 (GRCm39) T124I probably benign Het
Vmn1r87 G T 7: 12,866,256 (GRCm39) Y10* probably null Het
Zan G A 5: 137,461,948 (GRCm39) T1077I unknown Het
Zc2hc1b C A 10: 13,047,025 (GRCm39) V29F probably damaging Het
Zfp597 T C 16: 3,684,387 (GRCm39) D123G probably benign Het
Other mutations in Vamp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2364:Vamp1 UTSW 6 125,217,306 (GRCm39) missense probably benign 0.01
R6913:Vamp1 UTSW 6 125,195,908 (GRCm39) missense probably damaging 1.00
R7465:Vamp1 UTSW 6 125,195,538 (GRCm39) missense unknown
R8693:Vamp1 UTSW 6 125,217,388 (GRCm39) missense unknown
Posted On 2015-12-18