Incidental Mutation 'IGL02559:Syt15'
ID 298626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt15
Ensembl Gene ENSMUSG00000041479
Gene Name synaptotagmin XV
Synonyms sytXV, CHR10SYT, E230025K04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02559
Quality Score
Status
Chromosome 14
Chromosomal Location 33941915-33952378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33943760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 103 (V103A)
Ref Sequence ENSEMBL: ENSMUSP00000113725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035351] [ENSMUST00000119693]
AlphaFold Q8C6N3
Predicted Effect probably benign
Transcript: ENSMUST00000035351
AA Change: V103A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: V103A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
C2 160 262 2.44e-10 SMART
C2 291 397 6.01e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119693
AA Change: V103A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: V103A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
C2 160 262 2.44e-10 SMART
C2 291 389 7.53e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227397
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,507,433 (GRCm39) Q1004* probably null Het
Bahcc1 A G 11: 120,175,998 (GRCm39) D1914G probably damaging Het
Bcl11b A T 12: 107,881,653 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col24a1 A T 3: 145,019,934 (GRCm39) I102F probably benign Het
Col7a1 C T 9: 108,802,284 (GRCm39) R2063C unknown Het
Ddo T A 10: 40,523,517 (GRCm39) L169Q probably damaging Het
Defb4 G T 8: 19,251,313 (GRCm39) C60F probably damaging Het
Dock9 A T 14: 121,862,559 (GRCm39) probably benign Het
Dysf A T 6: 84,044,428 (GRCm39) probably benign Het
Fasn G A 11: 120,699,892 (GRCm39) A2253V possibly damaging Het
Fbxw26 T C 9: 109,551,232 (GRCm39) D355G probably benign Het
Gak C T 5: 108,732,098 (GRCm39) E797K probably null Het
Gm10654 T C 8: 71,384,774 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,183,729 (GRCm39) probably benign Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hdac3 A G 18: 38,087,944 (GRCm39) F8S probably damaging Het
Hrh4 T C 18: 13,140,301 (GRCm39) probably null Het
Klhl1 A G 14: 96,389,396 (GRCm39) V586A possibly damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Mmp28 G T 11: 83,338,566 (GRCm39) N128K probably benign Het
Mndal T C 1: 173,700,486 (GRCm39) T162A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Mylpf A G 7: 126,813,315 (GRCm39) Y133C probably damaging Het
Nup210l G A 3: 90,067,260 (GRCm39) A767T probably benign Het
Or10j3b T C 1: 173,044,088 (GRCm39) V290A probably damaging Het
Or52n2 T A 7: 104,542,161 (GRCm39) R225W probably benign Het
Or5au1 A G 14: 52,273,464 (GRCm39) Y35H probably damaging Het
Paics A G 5: 77,112,451 (GRCm39) I312V possibly damaging Het
Pkdrej G T 15: 85,702,049 (GRCm39) Q1296K probably benign Het
Rufy1 A G 11: 50,311,310 (GRCm39) F170L probably damaging Het
Shcbp1 T A 8: 4,799,305 (GRCm39) E93V probably damaging Het
Slamf1 T A 1: 171,594,826 (GRCm39) I11K possibly damaging Het
Slc5a5 C T 8: 71,342,915 (GRCm39) G215D probably damaging Het
Slco1a1 A T 6: 141,867,514 (GRCm39) V473D probably benign Het
Slit1 A G 19: 41,709,524 (GRCm39) V123A probably benign Het
Srgap2 A C 1: 131,452,674 (GRCm39) probably null Het
Stk32c T C 7: 138,700,606 (GRCm39) M208V probably benign Het
Tacc2 T A 7: 130,360,997 (GRCm39) L456Q probably damaging Het
Tanc1 A G 2: 59,554,998 (GRCm39) probably benign Het
Tepsin G T 11: 119,987,731 (GRCm39) D62E probably benign Het
Thap3 T C 4: 152,068,144 (GRCm39) D106G probably benign Het
Ttn T C 2: 76,616,561 (GRCm39) D14818G probably damaging Het
Txndc2 T C 17: 65,946,585 (GRCm39) N39S possibly damaging Het
Ubxn11 A G 4: 133,852,254 (GRCm39) E200G probably damaging Het
Vmn2r11 T G 5: 109,200,046 (GRCm39) Q469P probably damaging Het
Yipf2 T C 9: 21,503,482 (GRCm39) T22A probably damaging Het
Ypel1 T C 16: 16,927,515 (GRCm39) K26E possibly damaging Het
Other mutations in Syt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Syt15 APN 14 33,946,881 (GRCm39) missense possibly damaging 0.91
IGL02486:Syt15 APN 14 33,944,933 (GRCm39) missense probably damaging 0.96
IGL02807:Syt15 APN 14 33,944,870 (GRCm39) missense probably benign
R1403:Syt15 UTSW 14 33,943,159 (GRCm39) splice site probably benign
R1695:Syt15 UTSW 14 33,944,858 (GRCm39) missense probably benign 0.37
R1993:Syt15 UTSW 14 33,944,969 (GRCm39) missense probably benign 0.06
R2163:Syt15 UTSW 14 33,948,073 (GRCm39) missense probably benign 0.00
R2214:Syt15 UTSW 14 33,944,989 (GRCm39) missense probably damaging 1.00
R3120:Syt15 UTSW 14 33,944,950 (GRCm39) missense probably benign 0.19
R3978:Syt15 UTSW 14 33,945,061 (GRCm39) missense probably benign 0.00
R4688:Syt15 UTSW 14 33,950,011 (GRCm39) missense probably damaging 1.00
R5214:Syt15 UTSW 14 33,943,703 (GRCm39) missense possibly damaging 0.89
R6715:Syt15 UTSW 14 33,944,819 (GRCm39) missense probably damaging 1.00
R7731:Syt15 UTSW 14 33,945,024 (GRCm39) missense possibly damaging 0.94
R8901:Syt15 UTSW 14 33,948,028 (GRCm39) missense probably damaging 1.00
R9466:Syt15 UTSW 14 33,942,991 (GRCm39) missense probably damaging 1.00
X0026:Syt15 UTSW 14 33,947,006 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16