Incidental Mutation 'IGL02559:Syt15'
ID298626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt15
Ensembl Gene ENSMUSG00000041479
Gene Namesynaptotagmin XV
SynonymsE230025K04Rik, CHR10SYT, sytXV
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02559
Quality Score
Status
Chromosome14
Chromosomal Location34219595-34230420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34221803 bp
ZygosityHeterozygous
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]
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: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Syt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Syt15 APN 14 34224924 missense possibly damaging 0.91
IGL02486:Syt15 APN 14 34222976 missense probably damaging 0.96
IGL02807:Syt15 APN 14 34222913 missense probably benign
R1403:Syt15 UTSW 14 34221202 splice site probably benign
R1695:Syt15 UTSW 14 34222901 missense probably benign 0.37
R1993:Syt15 UTSW 14 34223012 missense probably benign 0.06
R2163:Syt15 UTSW 14 34226116 missense probably benign 0.00
R2214:Syt15 UTSW 14 34223032 missense probably damaging 1.00
R3120:Syt15 UTSW 14 34222993 missense probably benign 0.19
R3978:Syt15 UTSW 14 34223104 missense probably benign 0.00
R4688:Syt15 UTSW 14 34228054 missense probably damaging 1.00
R5214:Syt15 UTSW 14 34221746 missense possibly damaging 0.89
R6715:Syt15 UTSW 14 34222862 missense probably damaging 1.00
X0026:Syt15 UTSW 14 34225049 missense probably damaging 1.00
Posted On2015-04-16