Incidental Mutation 'IGL03101:Snca'
ID 418748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snca
Ensembl Gene ENSMUSG00000025889
Gene Name synuclein, alpha
Synonyms alpha-Syn, alphaSYN, alpha-synuclein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03101
Quality Score
Status
Chromosome 6
Chromosomal Location 60708559-60806839 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to A at 60804595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114268] [ENSMUST00000163779]
AlphaFold O55042
Predicted Effect probably benign
Transcript: ENSMUST00000114268
SMART Domains Protein: ENSMUSP00000109907
Gene: ENSMUSG00000025889

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163779
SMART Domains Protein: ENSMUSP00000126067
Gene: ENSMUSG00000025889

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204586
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display resistance to the effects of MPTP on dopamine levels. Mice expressing a knock-in allele exhibit impaired coordination, long stride length, abnormal response to reserpine and reduced brain dopamine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 A T 7: 109,660,177 (GRCm39) probably benign Het
Abcc1 T A 16: 14,207,732 (GRCm39) V23D probably damaging Het
Adam8 G T 7: 139,568,456 (GRCm39) N260K possibly damaging Het
Ap3b1 A T 13: 94,591,906 (GRCm39) I457L probably benign Het
Apaf1 T C 10: 90,867,421 (GRCm39) N808S possibly damaging Het
Arhgef26 A G 3: 62,327,082 (GRCm39) T532A possibly damaging Het
Cfap65 G T 1: 74,967,592 (GRCm39) T162N possibly damaging Het
Clec12b A G 6: 129,356,480 (GRCm39) probably null Het
Creb3 T C 4: 43,563,081 (GRCm39) V60A probably benign Het
Cyp11b1 A G 15: 74,707,703 (GRCm39) F469L probably benign Het
Defb28 A T 2: 152,362,047 (GRCm39) E69V possibly damaging Het
Etnppl T C 3: 130,415,967 (GRCm39) L118S probably damaging Het
Fsip1 T C 2: 118,072,144 (GRCm39) Y213C probably damaging Het
Glb1l2 A G 9: 26,676,421 (GRCm39) W480R probably damaging Het
Herc1 A T 9: 66,395,279 (GRCm39) M4205L probably benign Het
Kif5a A T 10: 127,071,478 (GRCm39) probably benign Het
Lmbrd2 C T 15: 9,186,695 (GRCm39) R557C probably damaging Het
Map4k3 A G 17: 80,963,284 (GRCm39) probably null Het
Npc1 A G 18: 12,331,596 (GRCm39) I858T probably benign Het
Or7e173 T C 9: 19,938,725 (GRCm39) T170A probably benign Het
Pecam1 A G 11: 106,588,177 (GRCm39) V92A probably damaging Het
Rbm43 A T 2: 51,816,757 (GRCm39) I70N probably benign Het
Rps6kb1 T C 11: 86,393,708 (GRCm39) Y474C probably benign Het
Slco2a1 G A 9: 102,954,205 (GRCm39) G459R possibly damaging Het
Spata31f1e T C 4: 42,793,424 (GRCm39) D236G possibly damaging Het
Stap2 T A 17: 56,309,029 (GRCm39) I113F probably damaging Het
Tas2r140 T C 6: 40,468,764 (GRCm39) M198T probably benign Het
Trim9 T C 12: 70,393,428 (GRCm39) E172G probably damaging Het
Ttll7 T C 3: 146,602,445 (GRCm39) V81A possibly damaging Het
Vmn2r103 A G 17: 19,993,782 (GRCm39) Y53C probably damaging Het
Vmn2r22 C A 6: 123,614,295 (GRCm39) A432S probably benign Het
Zfp943 T C 17: 22,211,156 (GRCm39) S81P probably damaging Het
Other mutations in Snca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:Snca APN 6 60,804,521 (GRCm39) missense possibly damaging 0.95
R4246:Snca UTSW 6 60,710,149 (GRCm39) missense possibly damaging 0.92
R4882:Snca UTSW 6 60,792,719 (GRCm39) missense probably benign 0.44
R6291:Snca UTSW 6 60,792,702 (GRCm39) missense probably damaging 1.00
R9358:Snca UTSW 6 60,710,121 (GRCm39) missense probably benign 0.11
R9366:Snca UTSW 6 60,792,675 (GRCm39) missense probably benign 0.40
Posted On 2016-08-02