Incidental Mutation 'R7043:Syt12'
ID 547189
Institutional Source Beutler Lab
Gene Symbol Syt12
Ensembl Gene ENSMUSG00000049303
Gene Name synaptotagmin XII
Synonyms
MMRRC Submission 045142-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7043 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4495936-4527171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4501049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 334 (M334L)
Ref Sequence ENSEMBL: ENSMUSP00000055237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059295]
AlphaFold Q920N7
Predicted Effect probably benign
Transcript: ENSMUST00000059295
AA Change: M334L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: M334L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,474 (GRCm39) L1596P probably damaging Het
Actr3b A G 5: 26,054,936 (GRCm39) M329V probably benign Het
Avpr1a C T 10: 122,285,586 (GRCm39) R293C probably damaging Het
Bdp1 A T 13: 100,215,215 (GRCm39) C390S probably benign Het
C2cd2l A T 9: 44,227,848 (GRCm39) M131K probably damaging Het
Ccna2 T C 3: 36,624,302 (GRCm39) probably benign Het
Cd53 T C 3: 106,670,577 (GRCm39) D152G probably damaging Het
Cdpf1 A T 15: 85,692,485 (GRCm39) V66E probably null Het
Chd9 G T 8: 91,760,843 (GRCm39) probably benign Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Dst A G 1: 34,296,992 (GRCm39) T5794A probably damaging Het
Eif2s1 G T 12: 78,923,882 (GRCm39) R113L probably damaging Het
Eif5 A G 12: 111,511,030 (GRCm39) D423G probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
F7 A T 8: 13,083,997 (GRCm39) R227S probably benign Het
Gm14496 T G 2: 181,642,120 (GRCm39) I597S possibly damaging Het
Gpr85 T A 6: 13,835,876 (GRCm39) N343Y probably damaging Het
H2-T23 A T 17: 36,342,803 (GRCm39) S112T probably damaging Het
Itga9 C T 9: 118,598,184 (GRCm39) P573S probably damaging Het
Kcnb2 A T 1: 15,383,150 (GRCm39) M159L probably benign Het
Kmt5b T A 19: 3,865,220 (GRCm39) S738R possibly damaging Het
Lrp1b T C 2: 40,812,426 (GRCm39) N2393S possibly damaging Het
Mme T A 3: 63,252,638 (GRCm39) Y427* probably null Het
Naip1 A G 13: 100,563,422 (GRCm39) V581A probably damaging Het
Ndel1 A G 11: 68,713,450 (GRCm39) L329P possibly damaging Het
Nthl1 T G 17: 24,857,644 (GRCm39) V281G probably benign Het
Or52ab2 C A 7: 102,970,292 (GRCm39) probably benign Het
Per2 G T 1: 91,347,130 (GRCm39) H1197Q probably benign Het
Phf8-ps T C 17: 33,284,306 (GRCm39) D832G possibly damaging Het
Plec G A 15: 76,093,328 (GRCm39) probably benign Het
Prpf6 A T 2: 181,291,297 (GRCm39) H704L probably benign Het
Recql5 C T 11: 115,821,502 (GRCm39) probably null Het
Rimbp3 G A 16: 17,028,972 (GRCm39) V799M probably damaging Het
Sema3f C T 9: 107,568,599 (GRCm39) A169T possibly damaging Het
Serpinb9f T C 13: 33,509,970 (GRCm39) I54T possibly damaging Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc35g3 T C 11: 69,652,476 (GRCm39) D12G probably benign Het
Sptbn1 A G 11: 30,053,323 (GRCm39) V2252A probably benign Het
Stab2 T C 10: 86,706,110 (GRCm39) N1750S probably damaging Het
Supt5 C A 7: 28,019,435 (GRCm39) R543L probably benign Het
Syne1 T C 10: 5,022,193 (GRCm39) E7806G possibly damaging Het
Tk1 A G 11: 117,706,779 (GRCm39) *234R probably null Het
Trp73 T G 4: 154,151,464 (GRCm39) probably null Het
Ttn A G 2: 76,727,477 (GRCm39) probably benign Het
Vmn2r11 T C 5: 109,200,098 (GRCm39) I452V probably benign Het
Wwox G T 8: 115,406,578 (GRCm39) V190L probably damaging Het
Wwp2 A G 8: 108,184,532 (GRCm39) H80R probably benign Het
Zc3h3 A G 15: 75,681,485 (GRCm39) I532T probably damaging Het
Zfp280d A G 9: 72,226,539 (GRCm39) K328E probably damaging Het
Zfp365 A G 10: 67,745,656 (GRCm39) S41P probably damaging Het
Other mutations in Syt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Syt12 APN 19 4,497,873 (GRCm39) missense probably damaging 0.99
IGL02045:Syt12 APN 19 4,497,762 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTAACTAGAAGGGGATTGGCTTG -3'
(R):5'- GCCTGAGTCAAGAGATGCTG -3'

Sequencing Primer
(F):5'- ATTGGCTTGAGGTCCCAAGAG -3'
(R):5'- CCTGAGTCAAGAGATGCTGGTACTC -3'
Posted On 2019-05-13