Incidental Mutation 'IGL01331:Syt17'
ID74520
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 #IGL01331
Quality Score
Status
Chromosome7
Chromosomal Location118380717-118448222 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118408166 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 302 (I302F)
Ref Sequence ENSEMBL: ENSMUSP00000145087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203485] [ENSMUST00000203796]
Predicted Effect probably damaging
Transcript: ENSMUST00000081574
AA Change: I359F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: I359F

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: I358F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000203485
AA Change: I363F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: I363F

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 probably damaging
Transcript: ENSMUST00000203796
AA Change: I302F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: I302F

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,747,512 T517M probably damaging Het
Clec4g T C 8: 3,717,190 probably benign Het
Cmya5 C T 13: 93,096,946 E545K possibly damaging Het
Cntn6 A T 6: 104,774,523 D380V probably damaging Het
Col9a2 C T 4: 121,045,192 P209S possibly damaging Het
Cyp2b9 T C 7: 26,187,715 V183A probably damaging Het
Dpt T C 1: 164,796,810 Y27H unknown Het
Dusp16 T C 6: 134,718,104 Q588R possibly damaging Het
Dusp27 C A 1: 166,108,180 V150L probably damaging Het
Emg1 A G 6: 124,705,070 S164P probably benign Het
Foxk1 G A 5: 142,453,589 R428Q probably damaging Het
Frmd4a T A 2: 4,602,225 M667K probably benign Het
Gpr55 T A 1: 85,941,193 probably benign Het
Gtpbp8 A G 16: 44,740,131 I162T probably benign Het
Ighv1-59 C T 12: 115,335,372 V21I possibly damaging Het
Ipo11 T A 13: 106,795,746 Y938F possibly damaging Het
Map4 G T 9: 110,034,801 V365L probably benign Het
Mboat1 C A 13: 30,219,701 probably benign Het
Med12 A G X: 101,280,754 E649G possibly damaging Het
Nfkbie T C 17: 45,558,569 V150A probably benign Het
Olfr1054 A C 2: 86,332,704 Y217* probably null Het
Olfr632 A G 7: 103,937,575 Y65C possibly damaging Het
Prdm1 T A 10: 44,441,974 K299N possibly damaging Het
Ribc1 T C X: 152,005,106 T291A probably benign Het
Rps6kc1 G T 1: 190,800,352 N484K possibly damaging Het
Serpina3k C A 12: 104,343,110 A271D probably benign Het
Spata18 G T 5: 73,669,681 R321L probably damaging Het
Syne2 C A 12: 75,929,253 probably benign Het
Tgm6 A G 2: 130,143,618 probably null Het
Tmc2 A G 2: 130,232,356 Y323C probably damaging Het
Tnc T C 4: 63,982,875 D1452G probably damaging Het
Ttn A G 2: 76,789,678 I7555T probably damaging Het
Ugt2b36 A T 5: 87,090,942 W131R probably damaging Het
Vmn2r75 A T 7: 86,171,662 C21* probably null Het
Zfp592 T A 7: 81,041,548 C1158* probably null 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
IGL01610:Syt17 APN 7 118433993 missense possibly damaging 0.90
IGL01776:Syt17 APN 7 118409953 missense probably damaging 0.99
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 On2013-10-07