Incidental Mutation 'IGL02730:Syt5'
ID 305417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt5
Ensembl Gene ENSMUSG00000004961
Gene Name synaptotagmin V
Synonyms SytIX
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02730
Quality Score
Status
Chromosome 7
Chromosomal Location 4542764-4550540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4545356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 181 (V181A)
Ref Sequence ENSEMBL: ENSMUSP00000070322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065957] [ENSMUST00000206023] [ENSMUST00000206933]
AlphaFold Q9R0N5
Predicted Effect probably damaging
Transcript: ENSMUST00000065957
AA Change: V181A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
AA Change: V181A

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
C2 124 226 2.8e-19 SMART
C2 255 369 4.76e-22 SMART
low complexity region 375 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206023
Predicted Effect probably benign
Transcript: ENSMUST00000206933
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]
PHENOTYPE: About 50% of mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Fgf20 T A 8: 40,732,828 (GRCm39) L203F probably damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Mapk1ip1l C T 14: 47,548,377 (GRCm39) T175I possibly damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or6z3 T C 7: 6,464,123 (GRCm39) I205T possibly damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Sec22a T C 16: 35,134,470 (GRCm39) D282G probably damaging Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stx1b C A 7: 127,414,549 (GRCm39) R25L probably benign Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Syt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Syt5 APN 7 4,544,156 (GRCm39) missense probably damaging 1.00
IGL03345:Syt5 APN 7 4,545,206 (GRCm39) missense probably benign
PIT4495001:Syt5 UTSW 7 4,544,077 (GRCm39) critical splice donor site probably null
R0352:Syt5 UTSW 7 4,544,170 (GRCm39) missense probably benign 0.29
R0479:Syt5 UTSW 7 4,546,108 (GRCm39) missense probably benign
R0512:Syt5 UTSW 7 4,545,813 (GRCm39) missense probably damaging 1.00
R0627:Syt5 UTSW 7 4,548,682 (GRCm39) missense possibly damaging 0.82
R1522:Syt5 UTSW 7 4,543,245 (GRCm39) missense probably damaging 0.97
R1919:Syt5 UTSW 7 4,543,278 (GRCm39) missense probably damaging 1.00
R2191:Syt5 UTSW 7 4,546,088 (GRCm39) nonsense probably null
R5265:Syt5 UTSW 7 4,544,074 (GRCm39) splice site probably null
R5643:Syt5 UTSW 7 4,546,018 (GRCm39) missense probably benign 0.24
R7067:Syt5 UTSW 7 4,546,075 (GRCm39) missense probably benign
R7397:Syt5 UTSW 7 4,545,395 (GRCm39) splice site probably null
R8218:Syt5 UTSW 7 4,545,822 (GRCm39) missense probably damaging 1.00
R9776:Syt5 UTSW 7 4,544,831 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16