Incidental Mutation 'IGL02486:Syt15'
ID 295416
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 # IGL02486
Quality Score
Status
Chromosome 14
Chromosomal Location 33941915-33952378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33944933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 160 (R160K)
Ref Sequence ENSEMBL: ENSMUSP00000113725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035351] [ENSMUST00000119693]
AlphaFold Q8C6N3
Predicted Effect probably damaging
Transcript: ENSMUST00000035351
AA Change: R160K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: R160K

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 damaging
Transcript: ENSMUST00000119693
AA Change: R160K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: R160K

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Nox1 C T X: 132,993,560 (GRCm39) G433D probably damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in Syt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Syt15 APN 14 33,946,881 (GRCm39) missense possibly damaging 0.91
IGL02559:Syt15 APN 14 33,943,760 (GRCm39) missense probably benign
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