Incidental Mutation 'IGL00836:Stx17'
ID14289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx17
Ensembl Gene ENSMUSG00000061455
Gene Namesyntaxin 17
Synonyms9030425C21Rik, 6330411F21Rik, 4833418L03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00836
Quality Score
Status
Chromosome4
Chromosomal Location48124915-48186507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48158955 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
Ref Sequence ENSEMBL: ENSMUSP00000103349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064765] [ENSMUST00000107720] [ENSMUST00000107721] [ENSMUST00000153502]
Predicted Effect probably benign
Transcript: ENSMUST00000064765
AA Change: S112P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: S112P

DomainStartEndE-ValueType
low complexity region 74 88 N/A INTRINSIC
t_SNARE 156 223 9.65e-13 SMART
transmembrane domain 228 250 N/A INTRINSIC
transmembrane domain 255 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107720
AA Change: S112P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: S112P

DomainStartEndE-ValueType
low complexity region 74 88 N/A INTRINSIC
t_SNARE 156 223 9.65e-13 SMART
transmembrane domain 228 250 N/A INTRINSIC
transmembrane domain 255 274 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107721
AA Change: S90P

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455
AA Change: S90P

DomainStartEndE-ValueType
low complexity region 52 66 N/A INTRINSIC
t_SNARE 134 201 9.65e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153502
AA Change: S112P

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117512
Gene: ENSMUSG00000061455
AA Change: S112P

DomainStartEndE-ValueType
coiled coil region 51 74 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc18 G A 5: 108,180,525 S697N probably benign Het
Cyp2c29 A G 19: 39,324,990 D310G probably damaging Het
Cyp4f13 G A 17: 32,941,164 H79Y probably benign Het
Dtna T C 18: 23,597,488 S311P probably benign Het
Dynlrb2 A G 8: 116,514,833 T39A probably benign Het
Erc2 T C 14: 28,040,521 I747T probably damaging Het
Herc6 G A 6: 57,619,549 M491I probably damaging Het
Klra3 A T 6: 130,327,144 I195N probably benign Het
Lama3 A G 18: 12,472,228 I1080V probably benign Het
Pls1 A G 9: 95,761,422 V508A possibly damaging Het
Prdm10 C A 9: 31,329,869 probably benign Het
Rnase1 T A 14: 51,145,546 Y117F probably benign Het
S100pbp A T 4: 129,182,108 N141K possibly damaging Het
Sin3a T A 9: 57,107,345 probably null Het
Slc2a2 G A 3: 28,718,741 A228T possibly damaging Het
Smurf2 A G 11: 106,852,636 Y182H probably benign Het
Snx2 T A 18: 53,216,400 M411K possibly damaging Het
Stxbp5l A T 16: 37,208,100 S534T possibly damaging Het
Tacc2 A G 7: 130,759,168 D2730G probably damaging Het
Timm8b A G 9: 50,604,994 D49G possibly damaging Het
Ufd1 G T 16: 18,827,718 probably benign Het
Zfp974 T C 7: 27,910,890 E470G possibly damaging Het
Other mutations in Stx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Stx17 APN 4 48181526 missense probably damaging 1.00
IGL01975:Stx17 APN 4 48180670 missense probably damaging 1.00
R1977:Stx17 UTSW 4 48181553 missense probably benign 0.00
R2069:Stx17 UTSW 4 48158870 missense probably damaging 0.99
R4117:Stx17 UTSW 4 48180689 missense probably damaging 1.00
R4201:Stx17 UTSW 4 48158870 missense probably damaging 0.99
R4202:Stx17 UTSW 4 48158870 missense probably damaging 0.99
R5265:Stx17 UTSW 4 48183470 utr 3 prime probably benign
R5308:Stx17 UTSW 4 48182851 utr 3 prime probably benign
R6414:Stx17 UTSW 4 48158809 critical splice acceptor site probably null
R6499:Stx17 UTSW 4 48183478 critical splice donor site probably null
R6969:Stx17 UTSW 4 48140462 missense probably damaging 1.00
R7062:Stx17 UTSW 4 48140442 missense probably benign 0.07
R7482:Stx17 UTSW 4 48181722 missense possibly damaging 0.82
Posted On2012-12-06