Incidental Mutation 'IGL01069:Syt15'
ID52650
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: 0.064) question?
Stock #IGL01069
Quality Score
Status
Chromosome14
Chromosomal Location34219595-34230420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34224924 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 220 (V220A)
Ref Sequence ENSEMBL: ENSMUSP00000113725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035351] [ENSMUST00000119693]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035351
AA Change: V220A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: V220A

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 possibly damaging
Transcript: ENSMUST00000119693
AA Change: V220A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: V220A

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700123K08Rik C T 5: 138,562,489 A215T probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apc2 G A 10: 80,311,986 C929Y probably damaging Het
Arap2 T C 5: 62,649,856 H1156R probably benign Het
Arhgap9 A G 10: 127,328,952 T582A probably damaging Het
Ccdc57 T A 11: 120,861,259 H832L probably benign Het
Ces3b T C 8: 105,091,574 S92P probably benign Het
Ces5a A G 8: 93,525,544 probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpb2 T A 14: 75,270,775 D225E probably damaging Het
Cpne8 C T 15: 90,615,110 probably null Het
Cux2 G A 5: 121,867,351 T924M possibly damaging Het
Dtl T A 1: 191,561,539 probably null Het
Dysf T A 6: 84,199,785 I1912N possibly damaging Het
Edc4 T A 8: 105,887,134 F369I probably benign Het
Fibcd1 T C 2: 31,821,519 E298G probably benign Het
Focad C A 4: 88,326,146 H788N unknown Het
Frem1 C T 4: 83,013,867 R199H probably benign Het
Gadl1 T C 9: 115,954,839 probably null Het
Hipk1 G A 3: 103,777,699 T200I possibly damaging Het
Ighv14-2 C T 12: 113,994,759 V21I possibly damaging Het
Kank4 A T 4: 98,778,395 I605N probably damaging Het
Krt88 T G 15: 101,453,627 *172G probably null Het
Lmf2 C A 15: 89,352,888 A408S probably benign Het
Lsm12 T C 11: 102,164,070 probably benign Het
Myo3b A G 2: 70,245,391 I580V probably benign Het
Myt1 T C 2: 181,825,956 M1061T probably damaging Het
Nup133 G A 8: 123,930,982 R405* probably null Het
Olfr1032 A G 2: 86,008,547 Y257C probably damaging Het
Olfr1377 A T 11: 50,985,003 I101F possibly damaging Het
Olfr229 A T 9: 39,910,606 M268L possibly damaging Het
Pcnx A G 12: 81,918,144 R362G probably benign Het
Pomt2 G T 12: 87,110,304 T747K probably damaging Het
Rgma G A 7: 73,417,491 A165T probably damaging Het
Rhbdf2 T C 11: 116,601,751 D437G possibly damaging Het
Rpl5 T C 5: 107,907,279 probably null Het
Rtkn2 A G 10: 68,041,664 D518G probably benign Het
Sclt1 T C 3: 41,741,991 probably benign Het
Sidt2 C T 9: 45,943,077 V616I possibly damaging Het
Ska2 A G 11: 87,109,265 probably benign Het
Slc13a4 C A 6: 35,268,882 L609F probably damaging Het
Sorbs3 T C 14: 70,191,155 E390G probably damaging Het
Tob1 T C 11: 94,214,055 F139S probably damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Syt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Syt15 APN 14 34222976 missense probably damaging 0.96
IGL02559:Syt15 APN 14 34221803 missense probably benign
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
R7731:Syt15 UTSW 14 34223067 missense possibly damaging 0.94
X0026:Syt15 UTSW 14 34225049 missense probably damaging 1.00
Posted On2013-06-21