Incidental Mutation 'R4680:Sncg'
ID 349996
Institutional Source Beutler Lab
Gene Symbol Sncg
Ensembl Gene ENSMUSG00000023064
Gene Name synuclein, gamma
Synonyms C79089, persyn
MMRRC Submission 041933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4680 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 34092231-34096626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34095268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 79 (N79I)
Ref Sequence ENSEMBL: ENSMUSP00000023826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023826] [ENSMUST00000111908]
AlphaFold Q9Z0F7
Predicted Effect probably benign
Transcript: ENSMUST00000023826
AA Change: N79I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023826
Gene: ENSMUSG00000023064
AA Change: N79I

DomainStartEndE-ValueType
Pfam:Synuclein 1 123 6.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111908
SMART Domains Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 55 127 1.1e-15 PFAM
low complexity region 174 186 N/A INTRINSIC
low complexity region 356 362 N/A INTRINSIC
coiled coil region 387 480 N/A INTRINSIC
coiled coil region 533 583 N/A INTRINSIC
coiled coil region 688 715 N/A INTRINSIC
Pfam:C1q 821 940 1.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227130
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no morphological or functional abnormalities of the nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,315,390 (GRCm39) L96Q probably damaging Het
4931414P19Rik T C 14: 54,822,533 (GRCm39) Y368C probably damaging Het
Acin1 T C 14: 54,924,215 (GRCm39) N8S probably benign Het
Aspm T C 1: 139,408,409 (GRCm39) V2432A probably benign Het
Atf2 A T 2: 73,659,025 (GRCm39) probably null Het
B3gnt2 A G 11: 22,787,105 (GRCm39) S28P probably damaging Het
Chil5 A G 3: 105,942,191 (GRCm39) probably benign Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dennd3 A T 15: 73,405,225 (GRCm39) H326L possibly damaging Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eprs1 T C 1: 185,118,475 (GRCm39) V461A possibly damaging Het
Fhad1 G A 4: 141,738,858 (GRCm39) Q31* probably null Het
Gpr26 A G 7: 131,576,082 (GRCm39) T249A probably benign Het
Gtf2ird1 T A 5: 134,386,735 (GRCm39) M958L probably damaging Het
Kat2b-ps A G 5: 93,539,299 (GRCm39) noncoding transcript Het
Kdm2b A T 5: 123,072,849 (GRCm39) V343E probably damaging Het
Lipi A G 16: 75,362,417 (GRCm39) probably null Het
Ltb4r1 T C 14: 56,004,925 (GRCm39) F76S probably damaging Het
Msantd2 A G 9: 37,434,387 (GRCm39) Y209C probably damaging Het
Nid1 G A 13: 13,647,437 (GRCm39) C401Y probably damaging Het
Obox1 A T 7: 15,290,089 (GRCm39) N144I probably damaging Het
Or14j7 T C 17: 38,234,813 (GRCm39) S119P probably damaging Het
Or8h9 T C 2: 86,789,665 (GRCm39) I46V possibly damaging Het
Or8k20 T A 2: 86,106,517 (GRCm39) I105F possibly damaging Het
Plec T C 15: 76,064,775 (GRCm39) E1630G unknown Het
Ppp2r5e C T 12: 75,516,533 (GRCm39) R218Q probably damaging Het
Prkdc A G 16: 15,589,894 (GRCm39) T2586A probably benign Het
Ptprj T C 2: 90,290,840 (GRCm39) N633S probably benign Het
Rab11fip2 T C 19: 59,924,452 (GRCm39) N284S probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Ropn1 A G 16: 34,497,675 (GRCm39) Q189R possibly damaging Het
Rwdd2b A G 16: 87,233,950 (GRCm39) probably null Het
Ryr2 A T 13: 11,610,119 (GRCm39) S4236T probably benign Het
Sigmar1 A G 4: 41,741,251 (GRCm39) M1T probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn C T 2: 76,763,021 (GRCm39) G3213S probably damaging Het
Uqcrc1 G A 9: 108,776,929 (GRCm39) R77H probably damaging Het
Vps13d A C 4: 144,835,080 (GRCm39) L2756R possibly damaging Het
Other mutations in Sncg
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0008:Sncg UTSW 14 34,096,495 (GRCm39) missense probably benign 0.38
R4827:Sncg UTSW 14 34,095,284 (GRCm39) missense probably damaging 0.97
R5438:Sncg UTSW 14 34,095,637 (GRCm39) missense probably benign 0.16
R8078:Sncg UTSW 14 34,096,727 (GRCm39) unclassified probably benign
R9124:Sncg UTSW 14 34,095,640 (GRCm39) missense possibly damaging 0.79
R9220:Sncg UTSW 14 34,096,474 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGGTACAGAGATACCAAGTCGC -3'
(R):5'- CCCTAGAGTCAGACAAAGGGATC -3'

Sequencing Primer
(F):5'- CCAGCACACAGTGGGTAC -3'
(R):5'- CTAGAAGTCAGGCATCAGGC -3'
Posted On 2015-10-08