Incidental Mutation 'IGL01776:Syt17'
ID153864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syt17
Ensembl Gene ENSMUSG00000058420
Gene Namesynaptotagmin XVII
SynonymsBk
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01776
Quality Score
Status
Chromosome7
Chromosomal Location118380717-118448222 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 118409953 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 343 (L343R)
Ref Sequence ENSEMBL: ENSMUSP00000147122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203485] [ENSMUST00000203796]
Predicted Effect probably damaging
Transcript: ENSMUST00000081574
AA Change: L344R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: L344R

DomainStartEndE-ValueType
low complexity region 90 102 N/A INTRINSIC
low complexity region 103 118 N/A INTRINSIC
low complexity region 159 172 N/A INTRINSIC
C2 196 305 7.92e-19 SMART
low complexity region 315 328 N/A INTRINSIC
C2 333 448 2.8e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203465
AA Change: L343R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000203485
AA Change: L348R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: L348R

DomainStartEndE-ValueType
low complexity region 94 106 N/A INTRINSIC
low complexity region 107 122 N/A INTRINSIC
low complexity region 163 176 N/A INTRINSIC
C2 200 309 5.2e-21 SMART
low complexity region 319 332 N/A INTRINSIC
C2 337 419 3.1e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203796
AA Change: L287R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: L287R

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
low complexity region 46 61 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
C2 139 248 5.2e-21 SMART
low complexity region 258 271 N/A INTRINSIC
C2 276 391 1.9e-21 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 G A 5: 90,283,364 Q854* probably null Het
Armc8 A G 9: 99,526,883 probably benign Het
Chrna7 A G 7: 63,099,519 V405A probably benign Het
Col8a2 C A 4: 126,309,805 probably benign Het
Dcn A G 10: 97,495,076 I91V possibly damaging Het
Dock7 T A 4: 98,940,941 R2069S possibly damaging Het
Gm7247 A G 14: 51,521,899 S112G possibly damaging Het
Hmcn1 T G 1: 150,672,038 T2721P possibly damaging Het
Hsd3b3 T C 3: 98,743,847 T96A probably benign Het
Ifi207 G A 1: 173,725,044 L936F probably damaging Het
Kcp G A 6: 29,497,908 P477S probably damaging Het
Mei1 T C 15: 82,095,932 probably null Het
Mgmt T A 7: 137,121,564 L121* probably null Het
Mrps35 G A 6: 147,070,716 V286I probably benign Het
Naxd T C 8: 11,505,525 probably null Het
Pam A G 1: 97,885,600 probably null Het
Plcxd1 G A 5: 110,101,380 probably benign Het
Rasgrp1 A G 2: 117,286,840 probably null Het
Spag9 C T 11: 94,116,727 probably benign Het
Spire2 T C 8: 123,359,392 S288P probably damaging Het
Stk11ip T C 1: 75,527,821 V322A probably benign Het
Tap1 G A 17: 34,193,128 V436I possibly damaging Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Other mutations in Syt17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Syt17 APN 7 118434290 missense probably damaging 0.98
IGL01135:Syt17 APN 7 118382047 missense possibly damaging 0.92
IGL01331:Syt17 APN 7 118408166 missense probably damaging 0.99
IGL01610:Syt17 APN 7 118433993 missense possibly damaging 0.90
IGL02125:Syt17 APN 7 118409974 missense probably benign 0.01
IGL02819:Syt17 APN 7 118409920 splice site probably benign
H8562:Syt17 UTSW 7 118408069 missense probably benign 0.01
R0127:Syt17 UTSW 7 118409941 missense probably damaging 0.98
R0328:Syt17 UTSW 7 118381993 missense probably benign 0.28
R1789:Syt17 UTSW 7 118436838 missense probably benign 0.00
R1872:Syt17 UTSW 7 118408118 missense probably benign 0.00
R1878:Syt17 UTSW 7 118434245 missense probably benign 0.01
R1918:Syt17 UTSW 7 118433985 missense possibly damaging 0.54
R2133:Syt17 UTSW 7 118382047 missense possibly damaging 0.92
R3777:Syt17 UTSW 7 118433957 missense probably damaging 1.00
R4471:Syt17 UTSW 7 118436817 splice site probably null
R4472:Syt17 UTSW 7 118436817 splice site probably null
R4567:Syt17 UTSW 7 118434272 missense probably benign 0.06
R5211:Syt17 UTSW 7 118442403 missense probably benign 0.19
R5905:Syt17 UTSW 7 118436918 missense probably benign 0.10
R6054:Syt17 UTSW 7 118408133 missense possibly damaging 0.91
R6276:Syt17 UTSW 7 118434290 missense probably damaging 0.98
R6332:Syt17 UTSW 7 118434243 missense probably benign 0.00
R7022:Syt17 UTSW 7 118408019 missense probably benign 0.00
R7440:Syt17 UTSW 7 118381884 missense probably damaging 1.00
R7845:Syt17 UTSW 7 118409971 missense possibly damaging 0.79
R7928:Syt17 UTSW 7 118409971 missense possibly damaging 0.79
Posted On2014-02-04