Incidental Mutation 'IGL03084:Stx8'
ID417991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx8
Ensembl Gene ENSMUSG00000020903
Gene Namesyntaxin 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03084
Quality Score
Status
Chromosome11
Chromosomal Location67966193-68207148 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 68020956 bp
ZygosityHeterozygous
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]
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
Aars G T 8: 111,041,629 V211L probably damaging Het
BC024139 T C 15: 76,119,807 D753G probably benign Het
BC049730 T C 7: 24,714,180 I207T possibly damaging Het
Brpf3 A G 17: 28,835,777 M1098V probably damaging Het
Cachd1 T A 4: 101,003,088 D1285E probably damaging Het
Cacna1b T C 2: 24,609,932 T147A probably benign Het
Cdc14a A G 3: 116,348,452 probably null Het
Chd1 A G 17: 15,770,298 H1704R probably benign Het
Dmkn T G 7: 30,771,056 N367K possibly damaging Het
Fam151b C A 13: 92,468,026 D152Y probably damaging Het
Gabrg3 T C 7: 56,735,064 S250G possibly damaging Het
Gm28042 A G 2: 120,040,505 Q833R probably benign Het
Gm4788 T A 1: 139,781,142 L9F possibly damaging Het
Gnpat A C 8: 124,878,899 Y336S probably damaging Het
Ighv1-54 G A 12: 115,194,116 probably benign Het
Kif2c T C 4: 117,178,158 N31S possibly damaging Het
Larp1 T A 11: 58,057,095 L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 P238S probably damaging Het
Lztfl1 C T 9: 123,709,576 G152E probably damaging Het
Man2a2 T C 7: 80,352,943 T1097A possibly damaging Het
Mrvi1 A G 7: 110,885,829 probably benign Het
Myh4 A G 11: 67,251,951 probably null Het
Nab2 C T 10: 127,664,477 V249M probably damaging Het
Nid2 A T 14: 19,768,932 D498V probably benign Het
Nrap T C 19: 56,365,454 T404A probably damaging Het
Olfr1043 A T 2: 86,162,225 C241* probably null Het
Olfr25 T G 9: 38,330,217 I210S probably damaging Het
Olfr368 T C 2: 37,332,401 I218T probably damaging Het
Olfr640 A G 7: 104,021,631 V229A probably benign Het
Pard3 A G 8: 127,593,092 I1104V probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppfia3 A G 7: 45,340,227 V1187A probably benign Het
Ppp1r16b G A 2: 158,761,493 W346* probably null Het
Rpl4 A G 9: 64,178,317 probably benign Het
Scn8a A T 15: 101,017,172 I1206F probably damaging Het
Slc5a2 T C 7: 128,266,604 S61P probably benign Het
Smarcal1 T C 1: 72,598,935 probably null Het
Smyd4 A G 11: 75,390,607 H302R probably benign Het
Sntb1 A G 15: 55,792,091 I243T probably damaging Het
Sycp2 C A 2: 178,391,791 probably benign Het
Ttn A T 2: 76,796,398 V13088D probably damaging Het
Ugt2b1 T A 5: 86,926,384 M39L probably benign Het
Utp6 A T 11: 79,962,216 probably null Het
Vmn1r189 A T 13: 22,101,838 Y276* probably null Het
Vmn2r11 T A 5: 109,059,343 D37V probably benign Het
Vmn2r16 T G 5: 109,330,426 F16V probably damaging Het
Vmn2r65 A T 7: 84,943,146 M538K probably damaging Het
Zfp143 T A 7: 110,069,611 probably benign Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Stx8 APN 11 67969772 missense probably damaging 1.00
IGL02860:Stx8 APN 11 67984565 missense probably damaging 1.00
R0574:Stx8 UTSW 11 67973252 missense probably damaging 0.99
R0599:Stx8 UTSW 11 68109362 missense probably null 0.26
R1696:Stx8 UTSW 11 68011422 missense probably damaging 1.00
R1816:Stx8 UTSW 11 68011326 missense possibly damaging 0.95
R1928:Stx8 UTSW 11 68109280 missense probably damaging 0.98
R2352:Stx8 UTSW 11 67973251 missense probably benign 0.02
R4822:Stx8 UTSW 11 67973273 missense possibly damaging 0.90
R5485:Stx8 UTSW 11 68020966 missense probably benign 0.00
R7673:Stx8 UTSW 11 67984639 missense probably benign 0.29
R7722:Stx8 UTSW 11 68203718 missense probably damaging 1.00
R7832:Stx8 UTSW 11 68109280 missense probably damaging 1.00
R7852:Stx8 UTSW 11 67969785 missense probably damaging 0.99
R8343:Stx8 UTSW 11 68020988 missense probably benign 0.14
Posted On2016-08-02