Incidental Mutation 'IGL02696:Syt16'
ID303930
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? Non essential (E-score: 0.000) question?
Stock #IGL02696
Quality Score
Status
Chromosome12
Chromosomal Location73997661-74273267 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74129411 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 18 (V18A)
Ref Sequence ENSEMBL: ENSMUSP00000106081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110451] [ENSMUST00000221220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000110451
AA Change: V18A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106081
Gene: ENSMUSG00000044912
AA Change: V18A

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 noncoding transcript
Transcript: ENSMUST00000221073
Predicted Effect probably benign
Transcript: ENSMUST00000221220
AA Change: V18A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221973
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S 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
IGL01780:Syt16 APN 12 74266842 missense probably benign 0.15
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
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 splice site 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
R7248:Syt16 UTSW 12 74266709 missense probably damaging 1.00
R7275:Syt16 UTSW 12 74266709 missense probably damaging 1.00
R7276:Syt16 UTSW 12 74266709 missense probably damaging 1.00
Z1177:Syt16 UTSW 12 74222789 missense possibly damaging 0.92
Posted On2015-04-16