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WormBase Tree Display for Variation: WBVar00531948

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Name Class

WBVar00531948EvidencePaper_evidenceWBPaper00044390
NamePublic_namebp500
Other_nameC32D5.9.1:c.256C>T
CE01849:p.Gln86Ter
HGVSgCHROMOSOME_II:g.6347431G>A
Sequence_detailsSMapS_parentSequenceC32D5
Flanking_sequencesctgttcttctttgtcaacaatgtcattccaaaaccatgaccacaatgggacaactctacc
Mapping_targetC32D5
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00044390
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00055856
LaboratoryHZ
StatusLive
AffectsGeneWBGene00002980
TranscriptC32D5.9.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC32D5.9.1:c.256C>T
HGVSpCE01849:p.Gln86Ter
cDNA_position289
CDS_position256
Protein_position86
Exon_number2/4
Codon_changeCaa/Taa
Amino_acid_changeQ/*
InteractorWBInteraction000525232
WBInteraction000525257
GeneticsInterpolated_map_positionII-0.380824
DescriptionPhenotypeWBPhenotype:0000243Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
RemarkThe lgg-1(bp500) mutation resulted in a significant increase in the duration time of cell corpses observed in embryos (Figure S1D)Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
WBPhenotype:0000679Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
RemarkAuthors found that phagosomal association of GFP-RAB-5, which is recruited at early phagosome maturation stages, decreased significantly in lgg-1(bp500) mutants (Figure 1G).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Authors found that phagosomal association of GFP-RAB-7, which is recruited at late phagosome maturation stages, decreased significantly in lgg-1(bp500) mutants (Figure 1H).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phagosomal labeling by the lysosomal membrane protein LAAT-1 was reduced in lgg-1(bp500) mutants (Figure 1I).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeGFP-RAB-5Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
GFP-RAB-7Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
LAAT-1-mCHERRYPaper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
WBPhenotype:0001181Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
RemarkThe lgg-1(bp500) mutation resulted in a significant increase in the number of cell corpses observed in embryos (Table 1, Figure S1A,B)Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
WBPhenotype:0001846Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
RemarkAuthors found that phagosomal association of GFP-RAB-5, which is recruited at early phagosome maturation stages, decreased significantly in lgg-1(bp500) mutants (Figure 1G).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Authors found that phagosomal association of GFP-RAB-7, which is recruited at late phagosome maturation stages, decreased significantly in lgg-1(bp500) mutants (Figure 1H).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phagosomal labeling by the lysosomal membrane protein LAAT-1 was reduced in lgg-1(bp500) mutants (Figure 1I).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeGFP-RAB-5Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
GFP-RAB-7Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
LAAT-1-mCHERRYPaper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
WBPhenotype:0002349Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
RemarkAuthors found significantly reduced YFP-2xFYVE labeling of cell corpses in lgg-1(bp500) mutants, suggesting that phosphatidylinositol 3-phosphate (PtdIns3P) generation and/or accumulation on phagosomes is affected (Figure 2A, B, S2C).Paper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeYFP-2xFYVE, a marker for phosphatidylinositol 3-phosphatePaper_evidenceWBPaper00044390
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0001301Paper_evidenceWBPaper00036384
Curator_confirmedWBPerson712
RemarkP granules were spherical and evenly dispersed. Localization patterns were distinct from the localization of T12G3.1 fluorescent signals.Paper_evidenceWBPaper00036384
Curator_confirmedWBPerson712
ReferenceWBPaper00036384
WBPaper00044390
WBPaper00049000
WBPaper00065712
RemarkThe lesion curated is that described in the Autophagy paper, which is different to that described in the earlier Mol. Cell paper. The author confirms that this is the correct lesion.Curator_confirmedWBPerson2970
MethodSubstitution_allele