Incidental Mutation 'IGL03084:Stx8'
ID 417991
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 # IGL03084
Quality Score
Status
Chromosome 11
Chromosomal Location 67857237-68097974 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 67911782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 167 (Q167*)
Ref Sequence ENSEMBL: ENSMUSP00000021285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021285]
AlphaFold O88983
Predicted Effect probably null
Transcript: ENSMUST00000021285
AA Change: Q167*
SMART Domains Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: Q167*

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 noncoding transcript
Transcript: ENSMUST00000129992
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gabrg3 T C 7: 56,384,812 (GRCm39) S250G possibly damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Lztfl1 C T 9: 123,538,641 (GRCm39) G152E probably damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5al7 A T 2: 85,992,569 (GRCm39) C241* probably null Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Rpl4 A G 9: 64,085,599 (GRCm39) probably benign Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Utp6 A T 11: 79,853,042 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) probably benign Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Stx8 APN 11 67,860,598 (GRCm39) missense probably damaging 1.00
IGL02860:Stx8 APN 11 67,875,391 (GRCm39) missense probably damaging 1.00
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 2016-08-02