Incidental Mutation 'IGL00584:Syt12'
ID14330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt12
Ensembl Gene ENSMUSG00000049303
Gene Namesynaptotagmin XII
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00584
Quality Score
Status
Chromosome19
Chromosomal Location4445908-4477447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4447845 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 370 (V370M)
Ref Sequence ENSEMBL: ENSMUSP00000055237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059295]
Predicted Effect probably damaging
Transcript: ENSMUST00000059295
AA Change: V370M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: V370M

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 45 55 N/A INTRINSIC
C2 168 272 1.8e-6 SMART
C2 299 405 4.9e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154407
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 is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,221,090 probably benign Het
Ces4a G T 8: 105,145,163 M288I probably benign Het
Dusp19 G A 2: 80,630,782 probably null Het
Eif4g1 C A 16: 20,686,754 probably benign Het
Farp1 T G 14: 121,237,149 I258S probably damaging Het
Galnt18 T A 7: 111,471,995 Q589L probably damaging Het
Gimap7 T A 6: 48,723,733 C84* probably null Het
Il12rb2 T C 6: 67,357,692 T168A probably damaging Het
Krba1 T C 6: 48,406,318 L216S possibly damaging Het
Mki67 T C 7: 135,695,695 K2537E probably damaging Het
Myo6 G T 9: 80,242,273 probably benign Het
Nbea T A 3: 56,082,448 N329I probably damaging Het
Ndufb11 T A X: 20,617,100 Q54L possibly damaging Het
Nudt1 T C 5: 140,337,710 F139S probably damaging Het
Rgn A T X: 20,557,517 M118L probably benign Het
Syt14 A T 1: 192,930,484 N669K possibly damaging Het
Other mutations in Syt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Syt12 APN 19 4447734 missense probably damaging 1.00
IGL02942:Syt12 APN 19 4447830 missense probably benign 0.16
IGL03131:Syt12 APN 19 4456854 missense probably benign
R1308:Syt12 UTSW 19 4460735 missense probably damaging 0.99
R1830:Syt12 UTSW 19 4456883 missense probably benign
R1858:Syt12 UTSW 19 4447797 missense probably damaging 1.00
R4192:Syt12 UTSW 19 4447681 utr 3 prime probably benign
R5646:Syt12 UTSW 19 4456541 missense possibly damaging 0.54
R5769:Syt12 UTSW 19 4451044 missense probably damaging 1.00
R5785:Syt12 UTSW 19 4450994 missense possibly damaging 0.95
R6079:Syt12 UTSW 19 4456868 missense probably benign
R7017:Syt12 UTSW 19 4460867 intron probably null
R7043:Syt12 UTSW 19 4451021 missense probably benign 0.04
R7137:Syt12 UTSW 19 4453950 missense probably damaging 1.00
R8042:Syt12 UTSW 19 4453824 missense probably damaging 0.98
U15987:Syt12 UTSW 19 4456868 missense probably benign
Z1177:Syt12 UTSW 19 4453928 missense probably damaging 0.97
Posted On2012-12-06