Incidental Mutation 'IGL03345:Syt5'
ID 417426
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 # IGL03345
Quality Score
Status
Chromosome 7
Chromosomal Location 4542764-4550540 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4545206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000070322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065957] [ENSMUST00000206023] [ENSMUST00000206933]
AlphaFold Q9R0N5
Predicted Effect probably benign
Transcript: ENSMUST00000065957
AA Change: V231A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
AA Change: V231A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,250,163 (GRCm39) W987R probably damaging Het
Adcy5 T C 16: 35,069,184 (GRCm39) V384A probably benign Het
Akap12 T C 10: 4,306,697 (GRCm39) V1169A probably benign Het
Atp8a2 T C 14: 60,011,460 (GRCm39) T950A probably benign Het
Avil T C 10: 126,844,826 (GRCm39) probably benign Het
Bccip A G 7: 133,311,220 (GRCm39) D45G probably benign Het
Bcl9 A G 3: 97,116,508 (GRCm39) S729P probably benign Het
C3 T A 17: 57,526,585 (GRCm39) I799F probably damaging Het
Cstf2 C T X: 132,961,794 (GRCm39) R80C probably damaging Het
Degs1l A T 1: 180,882,937 (GRCm39) H233L probably benign Het
Dock7 A G 4: 98,873,056 (GRCm39) F1130S possibly damaging Het
Elapor1 A G 3: 108,399,332 (GRCm39) V86A possibly damaging Het
Fat2 C T 11: 55,173,187 (GRCm39) D2509N probably damaging Het
Fut10 T C 8: 31,750,069 (GRCm39) S452P probably damaging Het
Gabrb1 T A 5: 72,293,908 (GRCm39) M394K possibly damaging Het
Gkn3 T A 6: 87,365,798 (GRCm39) E7V probably null Het
Gpld1 G A 13: 25,171,007 (GRCm39) G803R probably damaging Het
Hipk2 A G 6: 38,724,937 (GRCm39) probably benign Het
Kcnu1 A T 8: 26,371,321 (GRCm39) probably benign Het
Kidins220 A T 12: 25,053,044 (GRCm39) S445C probably damaging Het
Ltbp1 A G 17: 75,373,154 (GRCm39) K266E probably damaging Het
Myh4 A T 11: 67,146,304 (GRCm39) D1454V probably damaging Het
Nrf1 A C 6: 30,089,947 (GRCm39) T9P probably damaging Het
Nt5dc1 T C 10: 34,200,458 (GRCm39) E187G probably benign Het
Obscn T A 11: 58,886,308 (GRCm39) probably benign Het
Pkd2l2 T C 18: 34,558,142 (GRCm39) Y274H probably damaging Het
Rgs8 A G 1: 153,568,556 (GRCm39) K149R probably benign Het
Rinl A G 7: 28,496,222 (GRCm39) E401G possibly damaging Het
Rsbn1 A G 3: 103,822,466 (GRCm39) R234G possibly damaging Het
Slc6a3 A G 13: 73,719,633 (GRCm39) D554G probably benign Het
Slc7a2 A G 8: 41,369,530 (GRCm39) S646G probably benign Het
Timeless T G 10: 128,083,455 (GRCm39) S695A probably benign Het
Tmem131l G A 3: 83,868,896 (GRCm39) P160S probably damaging Het
Tspear C A 10: 77,710,716 (GRCm39) probably null Het
Ubn1 T A 16: 4,899,828 (GRCm39) H1113Q probably damaging Het
Vmn2r49 T G 7: 9,718,621 (GRCm39) K481T probably damaging Het
Xdh T C 17: 74,213,027 (GRCm39) N872S probably damaging Het
Other mutations in Syt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Syt5 APN 7 4,544,156 (GRCm39) missense probably damaging 1.00
IGL02730:Syt5 APN 7 4,545,356 (GRCm39) missense probably damaging 0.99
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 2016-08-02