Incidental Mutation 'IGL02045:Syt12'
ID 184924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt12
Ensembl Gene ENSMUSG00000049303
Gene Name synaptotagmin XII
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02045
Quality Score
Status
Chromosome 19
Chromosomal Location 4495936-4527171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4497762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 407 (T407A)
Ref Sequence ENSEMBL: ENSMUSP00000055237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059295]
AlphaFold Q920N7
Predicted Effect probably damaging
Transcript: ENSMUST00000059295
AA Change: T407A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: T407A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,378,721 (GRCm39) H2044Q possibly damaging Het
Ankrd12 A T 17: 66,293,244 (GRCm39) S730T probably benign Het
Ano9 A T 7: 140,682,382 (GRCm39) N655K probably benign Het
Ap1ar A T 3: 127,609,298 (GRCm39) Y108N probably damaging Het
Asap3 A G 4: 135,954,752 (GRCm39) I55V probably benign Het
Barx2 T C 9: 31,770,094 (GRCm39) T145A probably damaging Het
Camta1 T C 4: 151,158,442 (GRCm39) probably null Het
Ces2e C T 8: 105,657,290 (GRCm39) probably benign Het
Cflar T C 1: 58,791,903 (GRCm39) I405T probably benign Het
Cibar2 T A 8: 120,896,461 (GRCm39) K174* probably null Het
Cyp51 A G 5: 4,133,247 (GRCm39) S464P probably damaging Het
Ermard G A 17: 15,271,826 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,707,841 (GRCm39) T49A probably benign Het
Gls A G 1: 52,258,674 (GRCm39) V198A probably benign Het
Heatr5b A T 17: 79,115,855 (GRCm39) I867N probably damaging Het
Ighv1-14 A T 12: 114,610,334 (GRCm39) noncoding transcript Het
Iqsec1 T C 6: 90,641,051 (GRCm39) K1022E probably damaging Het
Myo10 A G 15: 25,726,574 (GRCm39) T299A probably benign Het
Nr2e3 A T 9: 59,856,291 (GRCm39) M82K probably benign Het
Ntpcr A G 8: 126,472,191 (GRCm39) probably benign Het
Or1e26 A G 11: 73,480,058 (GRCm39) C169R probably damaging Het
Or4d10b T C 19: 12,036,253 (GRCm39) T288A possibly damaging Het
Or52s6 A G 7: 103,092,159 (GRCm39) L57P probably damaging Het
Or5p80 A G 7: 108,229,739 (GRCm39) D180G probably damaging Het
Or6c70 A T 10: 129,710,091 (GRCm39) D178E probably benign Het
Prkcb A G 7: 122,189,390 (GRCm39) D506G probably damaging Het
Rasgef1a A G 6: 118,066,404 (GRCm39) I470V probably benign Het
Rbm27 A G 18: 42,452,978 (GRCm39) E514G possibly damaging Het
Rgs22 G A 15: 36,013,300 (GRCm39) A1048V probably benign Het
Secisbp2l A G 2: 125,617,498 (GRCm39) F60L possibly damaging Het
Six4 T C 12: 73,155,429 (GRCm39) S505G probably benign Het
Skint1 T A 4: 111,882,727 (GRCm39) V257E possibly damaging Het
Smad9 A G 3: 54,693,593 (GRCm39) N174S possibly damaging Het
Smc2 A G 4: 52,462,914 (GRCm39) N635D probably benign Het
Stradb T A 1: 59,028,937 (GRCm39) I135N probably damaging Het
Tmc8 T A 11: 117,677,346 (GRCm39) I322N probably damaging Het
Tnip1 A C 11: 54,802,365 (GRCm39) *648G probably null Het
Ttc3 T C 16: 94,210,540 (GRCm39) probably benign Het
Other mutations in Syt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Syt12 APN 19 4,497,873 (GRCm39) missense probably damaging 0.99
IGL02942:Syt12 APN 19 4,497,858 (GRCm39) missense probably benign 0.16
IGL03131:Syt12 APN 19 4,506,882 (GRCm39) missense probably benign
R1308:Syt12 UTSW 19 4,510,763 (GRCm39) missense probably damaging 0.99
R1830:Syt12 UTSW 19 4,506,911 (GRCm39) missense probably benign
R1858:Syt12 UTSW 19 4,497,825 (GRCm39) missense probably damaging 1.00
R4192:Syt12 UTSW 19 4,497,709 (GRCm39) utr 3 prime probably benign
R5646:Syt12 UTSW 19 4,506,569 (GRCm39) missense possibly damaging 0.54
R5769:Syt12 UTSW 19 4,501,072 (GRCm39) missense probably damaging 1.00
R5785:Syt12 UTSW 19 4,501,022 (GRCm39) missense possibly damaging 0.95
R6079:Syt12 UTSW 19 4,506,896 (GRCm39) missense probably benign
R7017:Syt12 UTSW 19 4,510,895 (GRCm39) splice site probably null
R7043:Syt12 UTSW 19 4,501,049 (GRCm39) missense probably benign 0.04
R7137:Syt12 UTSW 19 4,503,978 (GRCm39) missense probably damaging 1.00
R7935:Syt12 UTSW 19 4,497,830 (GRCm39) missense probably benign 0.06
R8042:Syt12 UTSW 19 4,503,852 (GRCm39) missense probably damaging 0.98
R9468:Syt12 UTSW 19 4,497,744 (GRCm39) missense probably damaging 1.00
U15987:Syt12 UTSW 19 4,506,896 (GRCm39) missense probably benign
Z1177:Syt12 UTSW 19 4,503,956 (GRCm39) missense probably damaging 0.97
Posted On 2014-05-07