Incidental Mutation 'IGL02151:Sncb'
ID282017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sncb
Ensembl Gene ENSMUSG00000034891
Gene Namesynuclein, beta
SynonymsbetaSYN
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02151
Quality Score
Status
Chromosome13
Chromosomal Location54758860-54766595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 54762696 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 76 (I76F)
Ref Sequence ENSEMBL: ENSMUSP00000043074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036825] [ENSMUST00000134110]
Predicted Effect probably benign
Transcript: ENSMUST00000036825
AA Change: I76F

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043074
Gene: ENSMUSG00000034891
AA Change: I76F

DomainStartEndE-ValueType
Pfam:Synuclein 1 125 1.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134110
AA Change: I76F

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116296
Gene: ENSMUSG00000034891
AA Change: I76F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik C T 5: 98,329,442 T24M probably damaging Het
Adgra3 G T 5: 49,979,142 T667N probably benign Het
Aff4 T C 11: 53,399,806 I531T probably benign Het
Akap9 C T 5: 4,032,728 Q1951* probably null Het
Arhgef10 C T 8: 14,928,889 T52M possibly damaging Het
Atg2a A G 19: 6,255,757 E1132G possibly damaging Het
AW551984 A C 9: 39,592,945 I575S probably benign Het
Cog7 T C 7: 121,943,808 E460G probably damaging Het
Ctse A G 1: 131,672,535 I341V probably benign Het
Dcpp1 A T 17: 23,882,594 I106L possibly damaging Het
Dcxr T A 11: 120,725,983 M158L probably benign Het
Dnah11 A T 12: 118,059,888 probably benign Het
Dnah7a T A 1: 53,472,864 I3013F probably benign Het
Dnah8 A G 17: 30,648,417 D281G possibly damaging Het
Dpysl3 G A 18: 43,358,300 H136Y probably damaging Het
Eaf1 C T 14: 31,497,787 T61M probably damaging Het
Fmnl1 A G 11: 103,192,772 T441A probably benign Het
Gm6169 T A 13: 97,099,174 T22S probably null Het
Hmgcll1 C T 9: 76,081,438 P197L probably benign Het
Kdm4b T C 17: 56,396,234 V643A probably benign Het
Lrch2 A G X: 147,553,720 F111L possibly damaging Het
Macf1 A T 4: 123,371,766 probably benign Het
Mfsd4b2 T C 10: 39,921,691 N223D probably damaging Het
Mug1 G A 6: 121,884,690 probably null Het
Nek7 A T 1: 138,487,100 L270Q probably damaging Het
Nexn T A 3: 152,248,244 D127V probably damaging Het
Nxf3 A G X: 136,079,573 F130S probably damaging Het
Olfr655 A G 7: 104,596,534 S216P probably damaging Het
Olfr96 T A 17: 37,225,166 F14I probably damaging Het
Pcdhb16 G A 18: 37,478,358 V124I possibly damaging Het
Podxl T C 6: 31,524,459 D387G possibly damaging Het
Rab3d C A 9: 21,915,724 R70M probably damaging Het
Ripk2 A T 4: 16,139,240 M219K possibly damaging Het
Rnf146 A G 10: 29,347,353 V179A probably damaging Het
Robo1 G T 16: 72,989,616 V839L probably benign Het
Rttn T A 18: 89,020,205 N808K probably damaging Het
Slc12a3 T G 8: 94,348,592 V738G probably benign Het
Slc26a3 T C 12: 31,447,831 V78A probably damaging Het
Slc26a9 G A 1: 131,764,043 V675M probably damaging Het
Stat4 G A 1: 52,013,870 R70H probably damaging Het
Tle6 T C 10: 81,598,640 M42V probably benign Het
Tmem67 T C 4: 12,068,882 T439A probably benign Het
Ugt2b35 C A 5: 87,003,282 T249K possibly damaging Het
Vmn1r231 C T 17: 20,889,735 R306K probably benign Het
Vmn1r42 A T 6: 89,845,041 I182N possibly damaging Het
Zfhx3 T C 8: 108,793,883 S546P probably damaging Het
Zic3 G T X: 58,031,539 probably null Het
Other mutations in Sncb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Sncb APN 13 54762930 missense probably damaging 1.00
R0511:Sncb UTSW 13 54765587 missense probably damaging 1.00
R5960:Sncb UTSW 13 54762982 intron probably benign
R6974:Sncb UTSW 13 54762674 missense probably damaging 0.99
X0009:Sncb UTSW 13 54762674 missense probably benign 0.29
Posted On2015-04-16