Incidental Mutation 'R1067:Syt1'
ID 86057
Institutional Source Beutler Lab
Gene Symbol Syt1
Ensembl Gene ENSMUSG00000035864
Gene Name synaptotagmin I
Synonyms G630098F17Rik
MMRRC Submission 039153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1067 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 108333511-108846843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108472523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 120 (D120E)
Ref Sequence ENSEMBL: ENSMUSP00000100912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064054] [ENSMUST00000105276]
AlphaFold P46096
Predicted Effect probably benign
Transcript: ENSMUST00000064054
AA Change: D120E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: D120E

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
PDB:4ISQ|F 32 52 1e-5 PDB
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 131 141 N/A INTRINSIC
C2 157 259 3.2e-25 SMART
C2 288 402 5.8e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105276
AA Change: D120E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: D120E

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
PDB:4ISQ|F 32 52 1e-5 PDB
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 131 141 N/A INTRINSIC
C2 157 259 3.2e-25 SMART
C2 288 402 5.9e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156979
SMART Domains Protein: ENSMUSP00000116981
Gene: ENSMUSG00000035864

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
PDB:4ISQ|F 32 52 7e-6 PDB
transmembrane domain 57 79 N/A INTRINSIC
low complexity region 128 138 N/A INTRINSIC
C2 154 236 2.83e-6 SMART
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,957,018 (GRCm39) probably benign Het
Adam24 T A 8: 41,133,793 (GRCm39) C420* probably null Het
Atp12a G A 14: 56,610,893 (GRCm39) G346S probably damaging Het
Bpifa3 A T 2: 153,979,529 (GRCm39) Q218L probably damaging Het
Cntrl T C 2: 35,039,034 (GRCm39) probably benign Het
Defb41 A G 1: 18,335,248 (GRCm39) probably null Het
Edc4 C A 8: 106,617,637 (GRCm39) T1094K probably damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
G3bp2 A T 5: 92,211,187 (GRCm39) probably benign Het
Herc6 T A 6: 57,639,204 (GRCm39) N888K probably damaging Het
Iqgap1 G A 7: 80,373,576 (GRCm39) T1471M probably benign Het
Kpna6 G T 4: 129,541,896 (GRCm39) H500Q probably benign Het
Krt78 G A 15: 101,854,896 (GRCm39) Q972* probably null Het
Krtap9-5 T A 11: 99,839,589 (GRCm39) C97S unknown Het
Mapk10 T A 5: 103,139,723 (GRCm39) probably benign Het
Mybphl A G 3: 108,272,319 (GRCm39) T3A probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Oca2 A G 7: 55,966,141 (GRCm39) I378V probably damaging Het
Or7a39 T A 10: 78,715,517 (GRCm39) C170* probably null Het
Pax6 C A 2: 105,510,646 (GRCm39) Q2K probably benign Het
Plxna2 C A 1: 194,462,818 (GRCm39) probably null Het
Ppp1r13b A G 12: 111,801,550 (GRCm39) L378P probably damaging Het
Prkdc G A 16: 15,570,646 (GRCm39) E2310K probably damaging Het
Pth2r G A 1: 65,411,507 (GRCm39) G348E possibly damaging Het
Rarb T C 14: 16,436,769 (GRCm38) I251V probably damaging Het
Rasa2 A G 9: 96,434,376 (GRCm39) L637P probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmbim1 A G 1: 74,329,905 (GRCm39) probably benign Het
Tnfrsf25 G A 4: 152,202,745 (GRCm39) C191Y probably damaging Het
Tnn T C 1: 159,952,968 (GRCm39) K691E probably damaging Het
Trim7 T A 11: 48,728,646 (GRCm39) V98E probably damaging Het
Tspan3 A G 9: 56,068,104 (GRCm39) F15L probably benign Het
Uap1l1 A G 2: 25,252,759 (GRCm39) L427S probably damaging Het
Upf1 A C 8: 70,791,053 (GRCm39) M574R probably damaging Het
Ush2a T A 1: 188,282,404 (GRCm39) V1931E probably benign Het
Zfp3 T C 11: 70,663,411 (GRCm39) S457P probably damaging Het
Other mutations in Syt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Syt1 APN 10 108,419,836 (GRCm39) missense possibly damaging 0.49
R1300:Syt1 UTSW 10 108,467,682 (GRCm39) missense possibly damaging 0.95
R1370:Syt1 UTSW 10 108,526,783 (GRCm39) missense probably damaging 0.98
R1575:Syt1 UTSW 10 108,340,361 (GRCm39) missense probably benign 0.04
R1656:Syt1 UTSW 10 108,419,776 (GRCm39) missense probably damaging 1.00
R2072:Syt1 UTSW 10 108,419,833 (GRCm39) missense probably damaging 1.00
R2212:Syt1 UTSW 10 108,340,275 (GRCm39) missense possibly damaging 0.89
R2429:Syt1 UTSW 10 108,526,781 (GRCm39) missense possibly damaging 0.86
R4928:Syt1 UTSW 10 108,340,373 (GRCm39) missense possibly damaging 0.95
R5216:Syt1 UTSW 10 108,478,118 (GRCm39) missense probably benign 0.00
R6161:Syt1 UTSW 10 108,467,668 (GRCm39) missense probably damaging 1.00
R6193:Syt1 UTSW 10 108,336,597 (GRCm39) missense probably benign 0.38
R7033:Syt1 UTSW 10 108,526,797 (GRCm39) missense probably benign
R7535:Syt1 UTSW 10 108,463,283 (GRCm39) critical splice acceptor site probably null
R7574:Syt1 UTSW 10 108,340,262 (GRCm39) missense probably damaging 1.00
R7913:Syt1 UTSW 10 108,478,109 (GRCm39) missense probably benign 0.00
R8003:Syt1 UTSW 10 108,472,434 (GRCm39) missense probably damaging 1.00
R8829:Syt1 UTSW 10 108,478,193 (GRCm39) missense probably benign 0.07
R9114:Syt1 UTSW 10 108,340,376 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCGCTCACAGCAAACGAAATG -3'
(R):5'- GCTACGAGAATGTGAAACCCAGCC -3'

Sequencing Primer
(F):5'- AGGAGTATCTTGCTTCAATTCCTAC -3'
(R):5'- TGCTTGCTTCAGACAGCT -3'
Posted On 2013-11-18