Incidental Mutation 'R5438:Sncg'
ID 428488
Institutional Source Beutler Lab
Gene Symbol Sncg
Ensembl Gene ENSMUSG00000023064
Gene Name synuclein, gamma
Synonyms C79089, persyn
MMRRC Submission 043003-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5438 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 34092231-34096626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34095637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 52 (V52I)
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: V52I

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023826
Gene: ENSMUSG00000023064
AA Change: V52I

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,538,165 (GRCm39) Q244K probably benign Het
Arpc2 T A 1: 74,275,995 (GRCm39) L4Q probably null Het
Atp7b C T 8: 22,504,570 (GRCm39) V581I probably benign Het
Bpifb9b T A 2: 154,151,288 (GRCm39) V3D possibly damaging Het
Capn13 A G 17: 73,633,479 (GRCm39) F525L probably benign Het
Cimip4 T C 15: 78,263,040 (GRCm39) T180A possibly damaging Het
Cmya5 G T 13: 93,231,707 (GRCm39) T1127K possibly damaging Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Cpd T A 11: 76,682,792 (GRCm39) I1076F possibly damaging Het
Elp4 A G 2: 105,734,748 (GRCm39) F29S probably damaging Het
Exosc10 T A 4: 148,650,799 (GRCm39) Y448* probably null Het
Fam219a A G 4: 41,520,302 (GRCm39) S149P probably damaging Het
Gdap2 A T 3: 100,085,629 (GRCm39) I184F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hvcn1 A G 5: 122,376,527 (GRCm39) K153R probably damaging Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Kcnn3 T A 3: 89,428,605 (GRCm39) L277Q probably damaging Het
Lama1 T A 17: 68,107,769 (GRCm39) S2128T possibly damaging Het
Ltbp1 T A 17: 75,598,321 (GRCm39) S919T probably damaging Het
Mgam A G 6: 40,661,455 (GRCm39) N1163S probably damaging Het
Mypn G T 10: 62,971,618 (GRCm39) C807* probably null Het
Or52n5 G A 7: 104,588,344 (GRCm39) V204I probably benign Het
Or5m8 T C 2: 85,822,925 (GRCm39) F255L probably damaging Het
Otud7a A G 7: 63,407,207 (GRCm39) N62S unknown Het
Pcdh18 A T 3: 49,710,465 (GRCm39) Y283* probably null Het
Ptger2 A T 14: 45,227,101 (GRCm39) H227L possibly damaging Het
Slc24a5 A G 2: 124,910,785 (GRCm39) Y72C probably damaging Het
Slc35f2 T A 9: 53,708,302 (GRCm39) D98E probably benign Het
Smad1 A T 8: 80,082,949 (GRCm39) F184I probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Zc3h11a C T 1: 133,568,385 (GRCm39) R88H probably damaging Het
Zfp141 A G 7: 42,138,894 (GRCm39) V46A probably damaging Het
Zfp472 T A 17: 33,197,193 (GRCm39) C423S probably damaging Het
Zfp729a A T 13: 67,767,705 (GRCm39) H841Q possibly damaging Het
Other mutations in Sncg
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0008:Sncg UTSW 14 34,096,495 (GRCm39) missense probably benign 0.38
R4680:Sncg UTSW 14 34,095,268 (GRCm39) missense probably benign 0.00
R4827:Sncg UTSW 14 34,095,284 (GRCm39) missense probably damaging 0.97
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'- TGACTCTAGGGCAGAACAATG -3'
(R):5'- AGTAACAGTACCTCAGGCCTGG -3'

Sequencing Primer
(F):5'- GCAGAACAATGTGATGGTCTATC -3'
(R):5'- AGTACCTCAGGCCTGGTCTATTTTG -3'
Posted On 2016-09-01