Incidental Mutation 'R2214:Syt15'
ID 241043
Institutional Source Beutler Lab
Gene Symbol Syt15
Ensembl Gene ENSMUSG00000041479
Gene Name synaptotagmin XV
Synonyms sytXV, CHR10SYT, E230025K04Rik
MMRRC Submission 040216-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2214 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 33941915-33952378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33944989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 179 (S179C)
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: S179C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: S179C

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: S179C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: S179C

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,926,946 (GRCm39) Y516C probably benign Het
Adam22 C T 5: 8,186,805 (GRCm39) probably null Het
Akap8l T C 17: 32,557,799 (GRCm39) probably null Het
Casr T C 16: 36,336,120 (GRCm39) Y63C probably damaging Het
Ccdc178 T C 18: 22,048,047 (GRCm39) D781G possibly damaging Het
Col9a1 C A 1: 24,247,283 (GRCm39) P168Q probably damaging Het
Dnm2 T C 9: 21,397,019 (GRCm39) probably null Het
Dst C T 1: 34,310,482 (GRCm39) T6325M probably damaging Het
Ercc4 C A 16: 12,927,888 (GRCm39) D19E probably damaging Het
Gm1110 C A 9: 26,813,786 (GRCm39) V198L probably benign Het
Gm8674 T A 13: 50,055,396 (GRCm39) noncoding transcript Het
Grm7 A T 6: 111,335,958 (GRCm39) I790F probably damaging Het
Habp2 A G 19: 56,306,249 (GRCm39) D445G possibly damaging Het
Kat7 G A 11: 95,166,631 (GRCm39) T517I probably damaging Het
Kbtbd11 T A 8: 15,079,178 (GRCm39) D592E possibly damaging Het
Lgals8 T A 13: 12,469,713 (GRCm39) Q82L probably benign Het
Lmtk3 A G 7: 45,444,277 (GRCm39) probably benign Het
Map2 A T 1: 66,459,345 (GRCm39) D1530V probably damaging Het
Map2k6 G A 11: 110,387,167 (GRCm39) V180I probably damaging Het
Map3k5 T A 10: 19,902,035 (GRCm39) probably null Het
Mtor A G 4: 148,623,327 (GRCm39) E2059G probably benign Het
Myh10 A G 11: 68,673,953 (GRCm39) D660G probably damaging Het
Myo16 T A 8: 10,488,803 (GRCm39) V658E probably damaging Het
Nckap5 A T 1: 125,953,487 (GRCm39) S1090T possibly damaging Het
Nhlrc3 T C 3: 53,363,875 (GRCm39) H217R probably damaging Het
Ntrk3 T A 7: 78,166,520 (GRCm39) I118F probably damaging Het
Or14a259 T A 7: 86,013,414 (GRCm39) I44F probably benign Het
Or1e29 A T 11: 73,667,655 (GRCm39) L166* probably null Het
Or4p20 C T 2: 88,253,461 (GRCm39) V303M probably benign Het
Paxip1 T C 5: 27,947,499 (GRCm39) Y1053C probably damaging Het
Pfkfb4 T A 9: 108,834,677 (GRCm39) F117I probably benign Het
Pp2d1 T C 17: 53,822,424 (GRCm39) Y214C probably benign Het
Prr7 C A 13: 55,620,613 (GRCm39) S207* probably null Het
Ptprh T A 7: 4,555,921 (GRCm39) Q715L possibly damaging Het
Rasgrp1 A T 2: 117,115,646 (GRCm39) D647E probably damaging Het
Rnf20 T A 4: 49,648,344 (GRCm39) M384K possibly damaging Het
Rps6kb1 A T 11: 86,424,896 (GRCm39) C37S possibly damaging Het
Serpinb9f C A 13: 33,518,592 (GRCm39) T364K probably benign Het
Sorbs1 C T 19: 40,285,075 (GRCm39) A641T probably damaging Het
Srrm2 T C 17: 24,035,719 (GRCm39) probably benign Het
Stag3 C T 5: 138,299,528 (GRCm39) S849L possibly damaging Het
Tapbp T C 17: 34,139,300 (GRCm39) F90L possibly damaging Het
Timm23 A T 14: 31,920,944 (GRCm39) D49E probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem174 A C 13: 98,773,757 (GRCm39) S24R possibly damaging Het
Tmem63a A G 1: 180,788,679 (GRCm39) S339G probably benign Het
Tsc22d2 A G 3: 58,323,627 (GRCm39) Y173C probably damaging Het
Ubap2 A G 4: 41,199,714 (GRCm39) probably null Het
Upp1 T A 11: 9,086,033 (GRCm39) V290E probably benign Het
Uqcc4 T C 17: 25,403,699 (GRCm39) V13A probably benign Het
Usp17lb A T 7: 104,490,639 (GRCm39) M96K probably benign Het
Wdr20rt A G 12: 65,274,187 (GRCm39) E449G probably damaging Het
Zkscan8 A T 13: 21,705,082 (GRCm39) S286T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCATCAACCCAGAGCTGTAC -3'
(R):5'- ACCCAGTGTCTGACCACCTATC -3'

Sequencing Primer
(F):5'- AGAGCTGTACAAGTCCCCG -3'
(R):5'- CTTACTGGAAAGCCCTTACTGTAGG -3'
Posted On 2014-10-15