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WormBase Tree Display for Variation: WBVar02146399

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Name Class

WBVar02146399EvidencePaper_evidenceWBPaper00048406
NamePublic_nameqx322
Other_nameCE30707:p.Lys99Ter
Y110A7A.5.1:c.295A>T
HGVSgCHROMOSOME_I:g.5135227A>T
Sequence_detailsSMapS_parentSequenceY110A7A
Flanking_sequencesaaagttggtagaaagacgacgagtgttgccaacgaggcgatgataattatggattcacaa
Mapping_targetY110A7A
Type_of_mutationSubstitutionatPaper_evidenceWBPaper00048406
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryXW
StatusLive
AffectsGeneWBGene00305663
WBGene00003475
TranscriptY110A7A.25
Y110A7A.5.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY110A7A.5.1:c.295A>T
HGVSpCE30707:p.Lys99Ter
cDNA_position323
CDS_position295
Protein_position99
Exon_number5/13
Codon_changeAaa/Taa
Amino_acid_changeK/*
InteractorWBInteraction000535522
WBInteraction000535523
WBInteraction000535524
GeneticsInterpolated_map_positionI-0.38127
DescriptionPhenotypeWBPhenotype:0000679Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
Remark"In wild-type sheath cells, 2xFYVE formed small puncta in the cytosol but was absent from the cell surface (Fig 5 L). In mtm-1(qx322), however, YFP::2xFYVE appeared on the surface of sheath cells, similar to PLCδ1-PH, which labels plasma membranes (Fig 5, K-K2', M, and N). This suggests that PtdIns3P accumulates on the cell surface in mtm-1(lf) sheath cells. Endosomal and phagosomal labeling by YFP::2xFYVE were also seen in mtm-1(qx322) when images were taken at the top focal plane because of the extremely thin cytosol of the sheath cell layer (Fig 5, M and N, arrowheads)."Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
"LST-4::GFP was diffuse in the cytoplasm of wild-type sheath cells but appeared on plasma membranes in mtm-1(lf) worms, which accumulate both PtdIns(4,5)P2 and PtdIns3P on their cell membranes (Fig 5, K-N; and Fig S5, B-D)."Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00021164
EQ_annotationsGO_termGO:0009986PATO:0000460Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
Molecule_affectedWBMol:00004725PATO:0000460Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeYFP::2xFYVEPaper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
LST-4::GFPPaper_evidenceWBPaper00048406
Curator_confirmedWBPerson2987
WBPhenotype:0001180Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
Remark"qx322 worms contained significantly more germ cell corpses than the wild type (Fig S2 J)... Expression of wild-type, but not catalytically inactive, MTM-1 significantly reduced germ cell corpses in qx322 and gk890934, indicating that phosphatase activity is important for MTM-1 function in apoptotic cell clearance (Fig S2 K)." (Table S1)Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
Rescued_by_transgeneWBTransgene00021164
WBPhenotype:0001846Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
Remark"In mtm-1(qx322) or mtm-1 RNAi worms, almost all germ cell corpses were labeled by YFP::2xFYVE, whereas <50% of them were YFP positive in wild type (Fig 5, A-C' and G). Moreover, extending pseudopods, which are positive for PLC&delta;1-PH and MTM-1(C378S) but not 2xFYVE in wild type, were labeled by YFP::2xFYVE in mtm- 1(lf) (Fig 5, H and J; Fig S3, K-K''; and Video 6)."Paper_evidenceWBPaper00048406
Curator_confirmedWBPerson17560
ReferenceWBPaper00048406
MethodSubstitution_allele