Incidental Mutation 'IGL02679:Stx8'
ID 303293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx8
Ensembl Gene ENSMUSG00000020903
Gene Name syntaxin 8
Synonyms 1110002H11Rik, 4930571E13Rik, 0610007H08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02679
Quality Score
Status
Chromosome 11
Chromosomal Location 67857237-68097974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 67860598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 6 (W6C)
Ref Sequence ENSEMBL: ENSMUSP00000104315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021285] [ENSMUST00000021286] [ENSMUST00000021287] [ENSMUST00000108675] [ENSMUST00000126766]
AlphaFold O88983
Predicted Effect probably damaging
Transcript: ENSMUST00000021285
AA Change: W6C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: W6C

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
t_SNARE 140 207 2.77e-13 SMART
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021286
AA Change: W6C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021286
Gene: ENSMUSG00000020903
AA Change: W6C

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021287
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
WD40 321 360 6.6e1 SMART
WD40 363 402 8.56e0 SMART
WD40 405 445 2.27e-3 SMART
WD40 450 489 3.14e-6 SMART
WD40 492 530 9.21e0 SMART
WD40 533 573 6.19e-5 SMART
WD40 576 615 2.15e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108675
AA Change: W6C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104315
Gene: ENSMUSG00000020903
AA Change: W6C

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126766
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
Blast:WD40 190 233 4e-12 BLAST
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
Blast:WD40 321 342 1e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148642
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik T A 10: 81,018,813 (GRCm39) probably benign Het
Adam5 A T 8: 25,296,542 (GRCm39) Y302N probably damaging Het
Ankrd34c A T 9: 89,612,132 (GRCm39) Y70N probably damaging Het
Asph G A 4: 9,601,349 (GRCm39) P190S possibly damaging Het
Atp6v1h T C 1: 5,194,525 (GRCm39) C235R probably damaging Het
Brwd1 A G 16: 95,804,023 (GRCm39) L2049P probably benign Het
Capn2 T A 1: 182,300,149 (GRCm39) I614F probably benign Het
Ccdc126 T A 6: 49,310,995 (GRCm39) M1K probably null Het
Cdh9 T C 15: 16,832,316 (GRCm39) I401T probably damaging Het
Cep57l1 T C 10: 41,605,382 (GRCm39) E121G probably damaging Het
Cfap46 A G 7: 139,194,386 (GRCm39) I2276T probably damaging Het
Cnnm3 T C 1: 36,559,239 (GRCm39) S490P probably benign Het
D430041D05Rik C T 2: 104,060,650 (GRCm39) V731I possibly damaging Het
Dynlt2b T C 16: 32,244,125 (GRCm39) V107A possibly damaging Het
Fgf3 C A 7: 144,394,487 (GRCm39) N100K probably damaging Het
Gas7 G A 11: 67,566,553 (GRCm39) probably null Het
Gfm1 C T 3: 67,382,100 (GRCm39) P725S possibly damaging Het
Gimap4 T A 6: 48,667,429 (GRCm39) C61* probably null Het
Greb1 C T 12: 16,758,724 (GRCm39) R664Q probably damaging Het
Kpnb1 T A 11: 97,068,086 (GRCm39) I295F possibly damaging Het
Lamc3 A G 2: 31,835,410 (GRCm39) E1577G probably benign Het
Lrrk1 C T 7: 65,924,620 (GRCm39) V235M probably damaging Het
Meak7 A T 8: 120,499,149 (GRCm39) D114E probably benign Het
Mipol1 T A 12: 57,352,829 (GRCm39) V56E possibly damaging Het
Mycbp2 T C 14: 103,442,621 (GRCm39) I1927V probably benign Het
Ncaph A T 2: 126,966,784 (GRCm39) N223K possibly damaging Het
Nipbl A G 15: 8,325,037 (GRCm39) M2542T probably benign Het
Nolc1 C A 19: 46,071,468 (GRCm39) probably benign Het
Or10j5 G A 1: 172,784,743 (GRCm39) C127Y probably damaging Het
Or51h1 A G 7: 102,308,384 (GRCm39) M119V possibly damaging Het
Pkhd1l1 T C 15: 44,393,441 (GRCm39) probably null Het
Ppat A T 5: 77,067,316 (GRCm39) C306S probably benign Het
Ptpn13 A T 5: 103,717,320 (GRCm39) M1821L possibly damaging Het
Rabl3 C T 16: 37,362,287 (GRCm39) S42L probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfx3 G A 19: 27,827,137 (GRCm39) H150Y possibly damaging Het
Rngtt A G 4: 33,356,098 (GRCm39) M312V possibly damaging Het
Slc10a2 T A 8: 5,148,499 (GRCm39) T149S probably damaging Het
Spata21 T C 4: 140,838,576 (GRCm39) probably benign Het
Tcn2 T C 11: 3,877,504 (GRCm39) E48G possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tmem255b G A 8: 13,507,055 (GRCm39) M240I probably benign Het
Ubr4 G A 4: 139,186,445 (GRCm39) E651K probably damaging Het
Ubr5 T C 15: 38,002,558 (GRCm39) T1498A probably benign Het
Vmn2r95 G A 17: 18,664,116 (GRCm39) C445Y probably damaging Het
Zfp429 T A 13: 67,547,855 (GRCm39) probably benign Het
Zfp804b T G 5: 6,821,392 (GRCm39) D557A possibly damaging Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02860:Stx8 APN 11 67,875,391 (GRCm39) missense probably damaging 1.00
IGL03084:Stx8 APN 11 67,911,782 (GRCm39) nonsense probably null
R0574:Stx8 UTSW 11 67,864,078 (GRCm39) missense probably damaging 0.99
R0599:Stx8 UTSW 11 68,000,188 (GRCm39) missense probably null 0.26
R1696:Stx8 UTSW 11 67,902,248 (GRCm39) missense probably damaging 1.00
R1816:Stx8 UTSW 11 67,902,152 (GRCm39) missense possibly damaging 0.95
R1928:Stx8 UTSW 11 68,000,106 (GRCm39) missense probably damaging 0.98
R2352:Stx8 UTSW 11 67,864,077 (GRCm39) missense probably benign 0.02
R4822:Stx8 UTSW 11 67,864,099 (GRCm39) missense possibly damaging 0.90
R5485:Stx8 UTSW 11 67,911,792 (GRCm39) missense probably benign 0.00
R7673:Stx8 UTSW 11 67,875,465 (GRCm39) missense probably benign 0.29
R7722:Stx8 UTSW 11 68,094,544 (GRCm39) missense probably damaging 1.00
R7832:Stx8 UTSW 11 68,000,106 (GRCm39) missense probably damaging 1.00
R7852:Stx8 UTSW 11 67,860,611 (GRCm39) missense probably damaging 0.99
R8343:Stx8 UTSW 11 67,911,814 (GRCm39) missense probably benign 0.14
R9048:Stx8 UTSW 11 67,902,211 (GRCm39) missense probably damaging 1.00
R9171:Stx8 UTSW 11 67,875,471 (GRCm39) missense possibly damaging 0.59
Posted On 2015-04-16