Incidental Mutation 'IGL02003:Sncb'
ID 182168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sncb
Ensembl Gene ENSMUSG00000034891
Gene Name synuclein, beta
Synonyms betaSYN
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02003
Quality Score
Status
Chromosome 13
Chromosomal Location 54906673-54914408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54910743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 51 (V51E)
Ref Sequence ENSEMBL: ENSMUSP00000043074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036825] [ENSMUST00000134110]
AlphaFold Q91ZZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000036825
AA Change: V51E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043074
Gene: ENSMUSG00000034891
AA Change: V51E

DomainStartEndE-ValueType
Pfam:Synuclein 1 125 1.1e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134110
AA Change: V51E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116296
Gene: ENSMUSG00000034891
AA Change: V51E

DomainStartEndE-ValueType
Pfam:Synuclein 1 124 1.1e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153829
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 a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,736,392 (GRCm39) noncoding transcript Het
Adam1b G A 5: 121,639,354 (GRCm39) L564F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Cnnm2 G T 19: 46,856,998 (GRCm39) G699W probably damaging Het
Crybg2 A G 4: 133,799,767 (GRCm39) K309R probably benign Het
Csnk2a1 C T 2: 152,118,890 (GRCm39) R333* probably null Het
Eif3m C T 2: 104,843,188 (GRCm39) probably benign Het
Fgfr2 T C 7: 129,820,802 (GRCm39) D244G probably damaging Het
H2-Q10 A G 17: 35,781,338 (GRCm39) I47V probably benign Het
Hmcn2 C T 2: 31,318,994 (GRCm39) T3898I possibly damaging Het
Isyna1 G A 8: 71,049,407 (GRCm39) V440M possibly damaging Het
Itpr3 A G 17: 27,340,449 (GRCm39) K2654E probably damaging Het
Lrrd1 C T 5: 3,899,857 (GRCm39) T54I probably damaging Het
Lrrk2 G A 15: 91,615,694 (GRCm39) V843M probably damaging Het
Morc2b A T 17: 33,357,298 (GRCm39) V158D probably benign Het
Mroh7 T C 4: 106,559,726 (GRCm39) T734A probably damaging Het
Mylk3 T C 8: 86,085,727 (GRCm39) D136G probably benign Het
Nos1 T C 5: 118,043,530 (GRCm39) S602P probably damaging Het
Nsmaf T C 4: 6,418,522 (GRCm39) I428V probably benign Het
Nup93 T G 8: 95,028,737 (GRCm39) Y323* probably null Het
Or5ac21 G A 16: 59,123,996 (GRCm39) G161D probably damaging Het
Or7g21 A T 9: 19,032,361 (GRCm39) M34L probably benign Het
Or8b50 C T 9: 38,518,136 (GRCm39) A125V probably damaging Het
Ppm1m C A 9: 106,076,356 (GRCm39) G13W probably damaging Het
Prok1 T G 3: 107,142,979 (GRCm39) H75P probably damaging Het
Ptprb A T 10: 116,203,410 (GRCm39) I1774F probably damaging Het
Rasl10b A T 11: 83,308,679 (GRCm39) E73V probably damaging Het
Rhbdl3 A G 11: 80,228,342 (GRCm39) T271A possibly damaging Het
Serpina3a A G 12: 104,082,259 (GRCm39) M11V probably benign Het
Setdb2 T C 14: 59,650,939 (GRCm39) E464G probably damaging Het
Slc8a1 A G 17: 81,735,625 (GRCm39) I749T possibly damaging Het
Slco6d1 T A 1: 98,408,493 (GRCm39) I463N probably damaging Het
Stk32c A G 7: 138,768,069 (GRCm39) S71P possibly damaging Het
Tet1 A G 10: 62,652,179 (GRCm39) V1613A possibly damaging Het
Vmn2r91 T A 17: 18,327,921 (GRCm39) I505K probably benign Het
Zfp110 A T 7: 12,583,832 (GRCm39) K827* probably null Het
Zfp438 A T 18: 5,214,503 (GRCm39) C152S probably benign Het
Other mutations in Sncb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Sncb APN 13 54,910,509 (GRCm39) missense probably benign 0.20
R0511:Sncb UTSW 13 54,913,400 (GRCm39) missense probably damaging 1.00
R5960:Sncb UTSW 13 54,910,795 (GRCm39) intron probably benign
R6974:Sncb UTSW 13 54,910,487 (GRCm39) missense probably damaging 0.99
R8972:Sncb UTSW 13 54,907,772 (GRCm39) critical splice acceptor site probably null
R9116:Sncb UTSW 13 54,910,512 (GRCm39) missense probably damaging 1.00
X0009:Sncb UTSW 13 54,910,487 (GRCm39) missense probably benign 0.29
Posted On 2014-05-07