Incidental Mutation 'F6893:Syt4'
Institutional Source Beutler Lab
Gene Symbol Syt4
Ensembl Gene ENSMUSG00000024261
Gene Namesynaptotagmin IV
Accession Numbers

Genbank: NM_009308; MGI: 101759  

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosomal Location31437808-31447415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31444221 bp
Amino Acid Change Valine to Isoleucine at position 27 (V27I)
Ref Sequence ENSEMBL: ENSMUSP00000025110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025110]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025110
AA Change: V27I

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: V27I

transmembrane domain 15 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 137 150 N/A INTRINSIC
C2 169 273 1.5e-19 SMART
C2 303 417 3.5e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181067
Meta Mutation Damage Score 0.098 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y227H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Txnrd1 C T 10: 82,866,989 Q95* probably null Homo
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Syt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Syt4 APN 18 31447174 utr 5 prime probably benign
IGL01476:Syt4 APN 18 31441643 missense probably damaging 1.00
IGL02412:Syt4 APN 18 31443843 missense probably benign 0.19
IGL02550:Syt4 APN 18 31444193 missense probably damaging 1.00
IGL02996:Syt4 APN 18 31444146 missense probably damaging 1.00
R0103:Syt4 UTSW 18 31447220 start gained probably benign
R0526:Syt4 UTSW 18 31443746 missense possibly damaging 0.95
R1122:Syt4 UTSW 18 31440202 missense probably damaging 1.00
R1622:Syt4 UTSW 18 31444016 missense probably damaging 1.00
R1786:Syt4 UTSW 18 31443443 splice site probably benign
R1895:Syt4 UTSW 18 31444088 missense probably damaging 1.00
R2114:Syt4 UTSW 18 31440467 missense probably damaging 1.00
R2117:Syt4 UTSW 18 31440467 missense probably damaging 1.00
R2655:Syt4 UTSW 18 31443544 missense probably benign 0.01
R3079:Syt4 UTSW 18 31441685 missense probably benign 0.08
R3730:Syt4 UTSW 18 31444136 missense probably damaging 0.96
R4870:Syt4 UTSW 18 31447356 start gained probably benign
Y5404:Syt4 UTSW 18 31443791 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 327 of the Syt4 transcript in exon 2 of 4 total exons.  The mutated nucleotide causes a valine to isoleucine substitution at amino acid 27 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Syt4gene encodes a 425 amino acid single-pass transmembrane protein known as synaptotagmin-4. This protein contains two calcium/lipid-binding C2 domains and is involved in vesicular trafficking and exocytosis (Uniprot P40749). Mice homozygous for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference.
The V27I change is located in the transmembrane domain, and is predicted to be benign by the PolyPhen program.
Posted On2010-05-04