Incidental Mutation 'IGL01780:Syt16'
ID154142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt16
Ensembl Gene ENSMUSG00000044912
Gene Namesynaptotagmin XVI
SynonymsStrep14, syt14r, Syt14l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL01780
Quality Score
Status
Chromosome12
Chromosomal Location73997661-74273267 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74266842 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 514 (V514A)
Ref Sequence ENSEMBL: ENSMUSP00000152623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110451] [ENSMUST00000221220]
Predicted Effect probably benign
Transcript: ENSMUST00000110451
SMART Domains Protein: ENSMUSP00000106081
Gene: ENSMUSG00000044912

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 70 83 N/A INTRINSIC
C2 270 372 8.91e-4 SMART
low complexity region 386 407 N/A INTRINSIC
C2 425 541 7.07e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221220
AA Change: V514A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,210,125 N648D probably benign Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
BC024139 C A 15: 76,121,143 L506F probably benign Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Emb A G 13: 117,249,471 probably benign Het
Eml6 T C 11: 29,805,175 M867V probably benign Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gmds A T 13: 32,225,162 Y106* probably null Het
Homez T C 14: 54,857,898 T118A probably damaging Het
Kcnh7 G A 2: 62,837,163 T344I probably benign Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Krt13 A T 11: 100,119,713 L207Q probably damaging Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Lrp2 A C 2: 69,486,184 V2151G possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mrgpra6 T C 7: 47,188,749 T234A probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1132 T C 2: 87,635,080 I222M possibly damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Patl2 A C 2: 122,121,846 S468R probably damaging Het
Pcdhb1 T C 18: 37,266,522 S509P probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rasgrp1 A G 2: 117,284,878 L743P probably benign Het
Rpusd4 G A 9: 35,268,424 R71Q probably damaging Het
Rsf1 C T 7: 97,664,770 probably benign Het
Scaf11 T C 15: 96,420,844 T280A possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tenm2 A G 11: 36,046,941 M1635T probably benign Het
Uhrf1bp1 T C 17: 27,893,500 L1221P probably damaging Het
Vmn1r195 A G 13: 22,279,085 T242A probably benign Het
Zfp423 A G 8: 87,781,508 V736A probably damaging Het
Other mutations in Syt16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Syt16 APN 12 74222830 nonsense probably null
IGL01287:Syt16 APN 12 74266739 missense probably damaging 1.00
IGL01401:Syt16 APN 12 74222663 missense possibly damaging 0.66
IGL02350:Syt16 APN 12 74266842 missense probably benign 0.15
IGL02353:Syt16 APN 12 74129471 missense probably damaging 1.00
IGL02357:Syt16 APN 12 74266842 missense probably benign 0.15
IGL02360:Syt16 APN 12 74129471 missense probably damaging 1.00
IGL02558:Syt16 APN 12 74235058 nonsense probably null
IGL02696:Syt16 APN 12 74129411 missense possibly damaging 0.90
R0701:Syt16 UTSW 12 74235112 missense probably benign 0.01
R1103:Syt16 UTSW 12 74266898 missense probably damaging 1.00
R2002:Syt16 UTSW 12 74235203 missense possibly damaging 0.77
R2079:Syt16 UTSW 12 74238299 missense probably damaging 1.00
R2124:Syt16 UTSW 12 74238235 missense probably damaging 1.00
R3806:Syt16 UTSW 12 74229398 missense possibly damaging 0.93
R3807:Syt16 UTSW 12 74229398 missense possibly damaging 0.93
R4887:Syt16 UTSW 12 74129386 missense probably damaging 0.96
R4889:Syt16 UTSW 12 74129495 missense probably damaging 0.98
R5153:Syt16 UTSW 12 74222768 missense possibly damaging 0.60
R6038:Syt16 UTSW 12 74222535 intron probably null
R6042:Syt16 UTSW 12 74266730 missense probably damaging 1.00
R6328:Syt16 UTSW 12 74266693 nonsense probably null
R6752:Syt16 UTSW 12 74229213 critical splice acceptor site probably null
Posted On2014-02-04