Incidental Mutation 'R7137:Syt12'
ID 553160
Institutional Source Beutler Lab
Gene Symbol Syt12
Ensembl Gene ENSMUSG00000049303
Gene Name synaptotagmin XII
Synonyms
MMRRC Submission 045248-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7137 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4495936-4527171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4503978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 218 (D218N)
Ref Sequence ENSEMBL: ENSMUSP00000055237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059295] [ENSMUST00000166191]
AlphaFold Q920N7
Predicted Effect probably damaging
Transcript: ENSMUST00000059295
AA Change: D218N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: D218N

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 probably benign
Transcript: ENSMUST00000166191
SMART Domains Protein: ENSMUSP00000130418
Gene: ENSMUSG00000049303

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 45 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Nfkbid A G 7: 30,125,681 (GRCm39) T357A possibly damaging Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pyy T G 11: 101,998,099 (GRCm39) D27A possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Wrnip1 A G 13: 32,986,732 (GRCm39) D171G probably benign Het
Zar1 T A 5: 72,738,159 (GRCm39) N81I probably damaging Het
Zbtb45 T C 7: 12,741,083 (GRCm39) T392A probably benign Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G 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
R7043:Syt12 UTSW 19 4,501,049 (GRCm39) missense probably benign 0.04
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'- AAGTATAGCCAGCCACTGAAGG -3'
(R):5'- GGAGACCCATGCTTGTAACC -3'

Sequencing Primer
(F):5'- AGCCACTGAAGGGCTGCAG -3'
(R):5'- CTAGCCTTATGCACTTAGTGGCAG -3'
Posted On 2019-05-15