Incidental Mutation 'IGL01625:Stx17'
ID92772
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 #IGL01625
Quality Score
Status
Chromosome4
Chromosomal Location48124915-48186507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 48181526 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 210 (P210T)
Ref Sequence ENSEMBL: ENSMUSP00000103349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064765] [ENSMUST00000107720] [ENSMUST00000107721]
Predicted Effect probably damaging
Transcript: ENSMUST00000064765
AA Change: P232T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: P232T

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 damaging
Transcript: ENSMUST00000107720
AA Change: P232T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: P232T

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 damaging
Transcript: ENSMUST00000107721
AA Change: P210T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455
AA Change: P210T

DomainStartEndE-ValueType
low complexity region 52 66 N/A INTRINSIC
t_SNARE 134 201 9.65e-13 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,043,147 H37Q possibly damaging Het
2210010C04Rik A C 6: 41,032,948 S151A probably benign Het
Akr1c19 T A 13: 4,233,817 I16N probably damaging Het
Arpc1b T C 5: 145,121,745 probably null Het
Bzw1 A G 1: 58,401,440 T191A probably benign Het
Cacna1h T C 17: 25,383,485 D1523G probably damaging Het
Cacna1h G A 17: 25,385,712 T1209I possibly damaging Het
Cdc20b T C 13: 113,059,785 L148P possibly damaging Het
Cubn A G 2: 13,306,274 F3147L possibly damaging Het
Dagla A G 19: 10,251,202 probably benign Het
Dnah9 T C 11: 66,044,645 N1983D probably damaging Het
Fbxw10 G A 11: 62,860,027 D479N probably damaging Het
Fer A T 17: 64,037,626 Q630L probably damaging Het
Gbp5 A G 3: 142,503,028 N111D probably damaging Het
Gm8127 T G 14: 43,291,063 probably benign Het
Heatr1 T A 13: 12,413,528 N814K probably damaging Het
Iba57 G A 11: 59,158,949 R191W probably damaging Het
Itgae C A 11: 73,119,437 F584L probably benign Het
Kdm5b A G 1: 134,617,968 K956E possibly damaging Het
Muc4 C T 16: 32,755,544 probably benign Het
Mybpc2 T C 7: 44,516,913 K218E possibly damaging Het
Pcdh10 T C 3: 45,379,397 S49P probably damaging Het
Rai14 T C 15: 10,572,374 D889G probably benign Het
Rbpjl A G 2: 164,407,785 K102R possibly damaging Het
Retreg2 A G 1: 75,144,715 probably benign Het
Rfc4 A T 16: 23,115,823 L149Q probably damaging Het
Rft1 T A 14: 30,676,896 D274E possibly damaging Het
Rlf A T 4: 121,188,260 S143R possibly damaging Het
Rptn T A 3: 93,397,894 S845T probably benign Het
Slamf8 C A 1: 172,582,482 D267Y probably damaging Het
Smoc2 C T 17: 14,325,614 S55L probably damaging Het
Sptan1 C T 2: 30,026,114 A2038V probably damaging Het
Tbc1d5 A G 17: 50,917,573 Y317H probably benign Het
Tenm4 C A 7: 96,885,358 T1737N probably damaging Het
Tesk2 T C 4: 116,771,801 F116L possibly damaging Het
Tln2 T C 9: 67,370,623 S370G probably damaging Het
Tm6sf2 G T 8: 70,076,083 G162C probably null Het
Togaram2 A C 17: 71,714,698 E718D probably benign Het
Ttn A C 2: 76,747,983 F15862V probably damaging Het
Uba6 T A 5: 86,120,529 R916* probably null Het
Umodl1 A G 17: 30,996,255 M1018V probably benign Het
Wdr26 G A 1: 181,191,816 T332I possibly damaging Het
Xdh A T 17: 73,916,786 probably null Het
Other mutations in Stx17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Stx17 APN 4 48158955 missense possibly damaging 0.72
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 On2013-12-09