Incidental Mutation 'R5216:Syt1'
ID 403487
Institutional Source Beutler Lab
Gene Symbol Syt1
Ensembl Gene ENSMUSG00000035864
Gene Name synaptotagmin I
Synonyms
MMRRC Submission 042789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5216 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 108497650-109010982 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108642257 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 102 (N102S)
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: N102S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: N102S

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: N102S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: N102S

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: 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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,061,162 (GRCm38) V84D probably damaging Het
Abcb1b T C 5: 8,813,705 (GRCm38) V220A probably benign Het
Actg1 A T 11: 120,347,754 (GRCm38) M82K probably damaging Het
Ahi1 T C 10: 20,960,076 (GRCm38) S103P probably benign Het
Aldh1b1 G T 4: 45,803,652 (GRCm38) G397C probably damaging Het
Arhgef3 A G 14: 27,401,842 (GRCm38) T507A probably benign Het
Atg7 A G 6: 114,724,949 (GRCm38) D682G probably damaging Het
Atp13a3 A G 16: 30,340,284 (GRCm38) I783T probably damaging Het
Atp9a T C 2: 168,674,888 (GRCm38) I362V probably benign Het
BC067074 G A 13: 113,342,413 (GRCm38) C1497Y probably benign Het
Birc6 T A 17: 74,613,470 (GRCm38) I168K probably damaging Het
Brca2 T A 5: 150,542,980 (GRCm38) Y2070N probably damaging Het
Cabp7 A G 11: 4,738,873 (GRCm38) I199T probably damaging Het
Cacng5 A G 11: 107,877,489 (GRCm38) F231L possibly damaging Het
Cngb3 T A 4: 19,415,729 (GRCm38) V413D possibly damaging Het
Col24a1 G A 3: 145,315,310 (GRCm38) E481K possibly damaging Het
Ctr9 T A 7: 111,045,458 (GRCm38) I560N possibly damaging Het
Dip2b C T 15: 100,211,986 (GRCm38) R1451C probably damaging Het
Fat3 T C 9: 16,377,537 (GRCm38) D230G probably damaging Het
Gramd4 G A 15: 86,134,785 (GRCm38) probably null Het
Grb14 C T 2: 64,917,309 (GRCm38) V369I probably benign Het
Hoxd1 A T 2: 74,764,351 (GRCm38) N317Y probably damaging Het
Kcnc4 A G 3: 107,439,441 (GRCm38) S623P probably benign Het
Klhl20 A G 1: 161,093,679 (GRCm38) probably null Het
Lamc1 C A 1: 153,227,696 (GRCm38) V1375L probably damaging Het
Lpin2 C T 17: 71,242,760 (GRCm38) S640L probably damaging Het
Ltbp4 AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC AATTCAGGCCTAGGCTGGGATTCAGGC 7: 27,327,311 (GRCm38) probably benign Het
Mgll T A 6: 88,766,329 (GRCm38) C110* probably null Het
Mmp14 A G 14: 54,437,663 (GRCm38) N251D possibly damaging Het
Olfr393 A T 11: 73,847,436 (GRCm38) S230T probably damaging Het
Olfr552 A G 7: 102,604,821 (GRCm38) T156A probably benign Het
Olfr857 T A 9: 19,713,289 (GRCm38) V154E probably benign Het
Pfkl T G 10: 78,009,670 (GRCm38) D5A probably damaging Het
Pik3c3 A G 18: 30,272,976 (GRCm38) Y9C probably damaging Het
Pkhd1l1 T A 15: 44,495,647 (GRCm38) Y417* probably null Het
Rptor G A 11: 119,843,713 (GRCm38) G514D probably damaging Het
Sulf1 T A 1: 12,796,874 (GRCm38) M94K probably benign Het
Synrg A G 11: 83,982,196 (GRCm38) T157A probably damaging Het
Tnip2 C T 5: 34,503,805 (GRCm38) R101H probably damaging Het
Trmt2a A G 16: 18,252,184 (GRCm38) D421G probably benign Het
Vmn1r67 A G 7: 10,447,163 (GRCm38) D57G probably benign Het
Wnt2b A G 3: 104,961,345 (GRCm38) L43P possibly damaging Het
Zfp113 C T 5: 138,150,715 (GRCm38) D56N probably damaging Het
Zfp184 C T 13: 21,950,236 (GRCm38) L69F probably damaging Het
Zyx T C 6: 42,356,532 (GRCm38) V464A probably damaging Het
Other mutations in Syt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Syt1 APN 10 108,583,975 (GRCm38) missense possibly damaging 0.49
R1067:Syt1 UTSW 10 108,636,662 (GRCm38) missense probably benign
R1300:Syt1 UTSW 10 108,631,821 (GRCm38) missense possibly damaging 0.95
R1370:Syt1 UTSW 10 108,690,922 (GRCm38) missense probably damaging 0.98
R1575:Syt1 UTSW 10 108,504,500 (GRCm38) missense probably benign 0.04
R1656:Syt1 UTSW 10 108,583,915 (GRCm38) missense probably damaging 1.00
R2072:Syt1 UTSW 10 108,583,972 (GRCm38) missense probably damaging 1.00
R2212:Syt1 UTSW 10 108,504,414 (GRCm38) missense possibly damaging 0.89
R2429:Syt1 UTSW 10 108,690,920 (GRCm38) missense possibly damaging 0.86
R4928:Syt1 UTSW 10 108,504,512 (GRCm38) missense possibly damaging 0.95
R6161:Syt1 UTSW 10 108,631,807 (GRCm38) missense probably damaging 1.00
R6193:Syt1 UTSW 10 108,500,736 (GRCm38) missense probably benign 0.38
R7033:Syt1 UTSW 10 108,690,936 (GRCm38) missense probably benign
R7535:Syt1 UTSW 10 108,627,422 (GRCm38) critical splice acceptor site probably null
R7574:Syt1 UTSW 10 108,504,401 (GRCm38) missense probably damaging 1.00
R7913:Syt1 UTSW 10 108,642,248 (GRCm38) missense probably benign 0.00
R8003:Syt1 UTSW 10 108,636,573 (GRCm38) missense probably damaging 1.00
R8829:Syt1 UTSW 10 108,642,332 (GRCm38) missense probably benign 0.07
R9114:Syt1 UTSW 10 108,504,515 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCACTACACTTTGGGAGAC -3'
(R):5'- ACTGGTCCACTGCTGATGTTC -3'

Sequencing Primer
(F):5'- TCATACCTGAAGGGACCGC -3'
(R):5'- GTCCACTGCTGATGTTCCGTTTC -3'
Posted On 2016-07-22