Incidental Mutation 'R7033:Syt1'
ID 546464
Institutional Source Beutler Lab
Gene Symbol Syt1
Ensembl Gene ENSMUSG00000035864
Gene Name synaptotagmin I
Synonyms G630098F17Rik
MMRRC Submission 045134-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 108333511-108846843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108526797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 37 (D37E)
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: D37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: D37E

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: D37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: D37E

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
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,826 (GRCm39) S122G probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
Gys2 T C 6: 142,418,448 (GRCm39) D27G probably benign Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or11h4 A G 14: 50,974,164 (GRCm39) F152L possibly damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr1b T C 2: 128,957,562 (GRCm39) V539A possibly damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Ppargc1b G T 18: 61,440,785 (GRCm39) A711D probably damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q probably damaging Het
Other mutations in Syt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Syt1 APN 10 108,419,836 (GRCm39) missense possibly damaging 0.49
R1067:Syt1 UTSW 10 108,472,523 (GRCm39) missense probably benign
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
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'- TAGGCACTACTGTTATCAGAGAAAC -3'
(R):5'- AGGCATGGCGTTCTGAATTG -3'

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