Incidental Mutation 'U15987:Syt12'
ID 478385
Institutional Source Beutler Lab
Gene Symbol Syt12
Ensembl Gene ENSMUSG00000049303
Gene Name synaptotagmin XII
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # U15987 (G0')
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4495936-4527171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4506896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000055237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059295] [ENSMUST00000166191]
AlphaFold Q920N7
Predicted Effect probably benign
Transcript: ENSMUST00000059295
AA Change: D83G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: D83G

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 unknown
Transcript: ENSMUST00000166191
AA Change: T67A
SMART Domains Protein: ENSMUSP00000130418
Gene: ENSMUSG00000049303
AA Change: T67A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 45 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 95% (41/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abcc8 T C 7: 45,755,268 (GRCm39) M1511V probably benign Het
Abcc9 A G 6: 142,585,301 (GRCm39) F801S probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Cdc20b T C 13: 113,220,576 (GRCm39) F485S probably damaging Het
Ctnna1 T C 18: 35,287,567 (GRCm39) V92A probably benign Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Edc4 C T 8: 106,614,180 (GRCm39) R19C probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Msl1 G T 11: 98,689,519 (GRCm39) G9C probably benign Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Slc13a1 T C 6: 24,133,656 (GRCm39) T199A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tfe3 T C X: 7,637,288 (GRCm39) L231P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r29 T C 6: 58,285,080 (GRCm39) F267L probably benign Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S 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
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
Z1177:Syt12 UTSW 19 4,503,956 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGCTCCATCATAGTCCATGC -3'
(R):5'- ATGTCCTTAAGTGCTGGTCCC -3'

Sequencing Primer
(F):5'- AATCCTGCCCAAAGGTGTTG -3'
(R):5'- AAGTGCTGGTCCCTCTGATG -3'
Posted On 2017-06-26