Incidental Mutation 'F6893:Syt4'
ID 180
Institutional Source Beutler Lab
Gene Symbol Syt4
Ensembl Gene ENSMUSG00000024261
Gene Name synaptotagmin IV
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 31570861-31580459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31577274 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Valine to Isoleucine at position 27 (V27I)
Ref Sequence ENSEMBL: ENSMUSP00000025110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025110]
AlphaFold P40749
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

DomainStartEndE-ValueType
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 0.0841 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: 119,924,261 (GRCm39) V1638M probably damaging Het
Agrn C T 4: 156,258,636 (GRCm39) R972Q probably benign Het
Anxa3 T C 5: 96,972,853 (GRCm39) probably benign Het
Bpifa6 G T 2: 153,829,078 (GRCm39) D202Y probably damaging Het
Ccdc15 G A 9: 37,226,936 (GRCm39) T346I probably damaging Homo
Celsr3 G A 9: 108,712,266 (GRCm39) R1731H probably benign Het
Ces4a A G 8: 105,873,859 (GRCm39) R443G possibly damaging Het
Chd2 T C 7: 73,157,620 (GRCm39) Q175R possibly damaging Het
Dpyd T A 3: 118,597,783 (GRCm39) probably null Het
Dscam G T 16: 96,857,660 (GRCm39) H117N possibly damaging Het
F13a1 A G 13: 37,155,999 (GRCm39) Y205H probably damaging Het
Fat3 A C 9: 15,918,085 (GRCm39) L1446R probably damaging Homo
Golga4 T C 9: 118,382,525 (GRCm39) L515S probably damaging Het
Hoxb1 A T 11: 96,256,728 (GRCm39) T26S probably benign Het
Igsf10 T G 3: 59,238,481 (GRCm39) T567P probably damaging Het
Lamb2 T C 9: 108,359,755 (GRCm39) V365A probably benign Het
Mepe A G 5: 104,485,242 (GRCm39) I127M possibly damaging Het
Mpi A T 9: 57,453,832 (GRCm39) M230K probably benign Homo
Myh4 A G 11: 67,146,283 (GRCm39) D1447G probably null Homo
Or1f19 A G 16: 3,411,027 (GRCm39) I256V possibly damaging Het
Or1j4 A G 2: 36,740,819 (GRCm39) T254A probably benign Het
Panx2 T C 15: 88,952,213 (GRCm39) Y227H probably damaging Homo
Pdzd7 A G 19: 45,025,173 (GRCm39) W441R probably damaging Het
Poldip2 A G 11: 78,410,020 (GRCm39) I267M probably damaging Homo
Pros1 T A 16: 62,745,002 (GRCm39) V539E probably damaging Het
Sacs T C 14: 61,450,425 (GRCm39) M4157T probably benign Het
Slc45a3 A G 1: 131,909,075 (GRCm39) E424G probably benign Homo
Slc9a1 A G 4: 133,149,457 (GRCm39) E761G probably benign Homo
Stab2 G A 10: 86,691,035 (GRCm39) P2178L probably damaging Het
Thumpd1 T A 7: 119,319,799 (GRCm39) K56* probably null Het
Tpr A G 1: 150,269,313 (GRCm39) K19E possibly damaging Homo
Ttll10 A G 4: 156,132,775 (GRCm39) I74T probably benign Het
Txnrd1 C T 10: 82,702,823 (GRCm39) Q95* probably null Homo
Zc3h7b A G 15: 81,662,872 (GRCm39) E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,525 (GRCm39) D51E probably benign Homo
Other mutations in Syt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Syt4 APN 18 31,580,227 (GRCm39) utr 5 prime probably benign
IGL01476:Syt4 APN 18 31,574,696 (GRCm39) missense probably damaging 1.00
IGL02412:Syt4 APN 18 31,576,896 (GRCm39) missense probably benign 0.19
IGL02550:Syt4 APN 18 31,577,246 (GRCm39) missense probably damaging 1.00
IGL02996:Syt4 APN 18 31,577,199 (GRCm39) missense probably damaging 1.00
PIT4434001:Syt4 UTSW 18 31,573,384 (GRCm39) missense probably damaging 1.00
R0103:Syt4 UTSW 18 31,580,273 (GRCm39) start gained probably benign
R0526:Syt4 UTSW 18 31,576,799 (GRCm39) missense possibly damaging 0.95
R1122:Syt4 UTSW 18 31,573,255 (GRCm39) missense probably damaging 1.00
R1622:Syt4 UTSW 18 31,577,069 (GRCm39) missense probably damaging 1.00
R1786:Syt4 UTSW 18 31,576,496 (GRCm39) splice site probably benign
R1895:Syt4 UTSW 18 31,577,141 (GRCm39) missense probably damaging 1.00
R2114:Syt4 UTSW 18 31,573,520 (GRCm39) missense probably damaging 1.00
R2117:Syt4 UTSW 18 31,573,520 (GRCm39) missense probably damaging 1.00
R2655:Syt4 UTSW 18 31,576,597 (GRCm39) missense probably benign 0.01
R3079:Syt4 UTSW 18 31,574,738 (GRCm39) missense probably benign 0.08
R3730:Syt4 UTSW 18 31,577,189 (GRCm39) missense probably damaging 0.96
R4870:Syt4 UTSW 18 31,580,409 (GRCm39) start gained probably benign
R7638:Syt4 UTSW 18 31,576,875 (GRCm39) missense probably benign 0.20
R7646:Syt4 UTSW 18 31,574,658 (GRCm39) missense possibly damaging 0.95
R7746:Syt4 UTSW 18 31,577,318 (GRCm39) missense probably benign 0.02
R7799:Syt4 UTSW 18 31,573,245 (GRCm39) nonsense probably null
R8174:Syt4 UTSW 18 31,577,230 (GRCm39) missense probably benign 0.00
R8199:Syt4 UTSW 18 31,577,268 (GRCm39) missense probably benign 0.30
R8428:Syt4 UTSW 18 31,577,072 (GRCm39) missense probably damaging 1.00
R8436:Syt4 UTSW 18 31,573,472 (GRCm39) missense possibly damaging 0.93
R8487:Syt4 UTSW 18 31,576,790 (GRCm39) missense possibly damaging 0.65
Y5404:Syt4 UTSW 18 31,576,844 (GRCm39) 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 On 2010-05-04