Incidental Mutation 'IGL01793:Syt1'
ID 155274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt1
Ensembl Gene ENSMUSG00000035864
Gene Name synaptotagmin I
Synonyms G630098F17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01793
Quality Score
Status
Chromosome 10
Chromosomal Location 108333511-108846843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108419836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 275 (D275G)
Ref Sequence ENSEMBL: ENSMUSP00000100912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064054] [ENSMUST00000105276]
AlphaFold P46096
Predicted Effect possibly damaging
Transcript: ENSMUST00000064054
AA Change: D275G

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: D275G

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 possibly damaging
Transcript: ENSMUST00000105276
AA Change: D275G

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: D275G

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,375,783 (GRCm39) I871V possibly damaging Het
Bbs7 A T 3: 36,659,831 (GRCm39) probably null Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Drc7 T C 8: 95,797,905 (GRCm39) I441T probably benign Het
Etl4 T C 2: 20,748,709 (GRCm39) I147T possibly damaging Het
Fat1 G A 8: 45,442,149 (GRCm39) M1150I probably benign Het
Fbn1 T C 2: 125,229,213 (GRCm39) S523G possibly damaging Het
Gramd1a C T 7: 30,833,838 (GRCm39) probably null Het
Hc A G 2: 34,918,202 (GRCm39) Y694H probably damaging Het
Kif6 T A 17: 49,931,521 (GRCm39) I73N probably damaging Het
Large1 A G 8: 73,585,809 (GRCm39) probably benign Het
Luzp2 G T 7: 54,821,997 (GRCm39) L171F probably damaging Het
Naaladl1 C A 19: 6,159,661 (GRCm39) probably null Het
Otop1 G A 5: 38,457,215 (GRCm39) A325T possibly damaging Het
Parp8 T A 13: 117,047,415 (GRCm39) Y219F probably damaging Het
Pkp3 A G 7: 140,668,817 (GRCm39) I660V probably benign Het
Plin3 T C 17: 56,588,540 (GRCm39) N238S probably benign Het
Ppef2 A T 5: 92,394,615 (GRCm39) D186E probably damaging Het
Rab40c G A 17: 26,103,596 (GRCm39) L156F probably damaging Het
Scnn1a T C 6: 125,320,666 (GRCm39) V547A probably benign Het
Spag6l A G 16: 16,599,721 (GRCm39) V247A probably damaging Het
Syne1 T C 10: 5,302,191 (GRCm39) E853G possibly damaging Het
Synj2 C T 17: 6,077,500 (GRCm39) R460* probably null Het
Synj2 T A 17: 6,088,321 (GRCm39) H1457Q probably benign Het
Tmx1 A G 12: 70,505,561 (GRCm39) D108G probably benign Het
Vmn1r180 T C 7: 23,652,668 (GRCm39) V277A probably benign Het
Vmn1r83 C T 7: 12,055,504 (GRCm39) M184I probably benign Het
Zfp750 G T 11: 121,404,810 (GRCm39) P22T probably damaging Het
Zscan2 A G 7: 80,524,692 (GRCm39) I138V probably null Het
Other mutations in Syt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-02-04