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WormBase Tree Display for Variation: WBVar00000416

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Name Class

WBVar00000416EvidencePaper_evidenceWBPaper00025193
NamePublic_nameb1014
Other_nameF49E7.1a.1:c.970C>T
F49E7.1b.2:c.-2103C>T
F49E7.1b.1:c.-2028C>T
CE38712:p.Gln324Ter
HGVSgCHROMOSOME_X:g.1098971C>T
Sequence_detailsSMapS_parentSequenceF49E7
Flanking_sequencesaacctcatttgcccggcaatcatcagtccgaaaagtttggagttgtggataatgatgtca
Mapping_targetF49E7
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005827
LaboratoryDH
StatusLive
AffectsGeneWBGene00004377
TranscriptF49E7.1b.2VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScF49E7.1b.2:c.-2103C>T
cDNA_position38
Exon_number1/13
F49E7.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF49E7.1a.1:c.970C>T
HGVSpCE38712:p.Gln324Ter
cDNA_position974
CDS_position970
Protein_position324
Exon_number8/20
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F49E7.1b.1VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScF49E7.1b.1:c.-2028C>T
cDNA_position870
Exon_number6/19
InteractorWBInteraction000518623
GeneticsInterpolated_map_positionX-18.7272
DescriptionPhenotypeWBPhenotype:0000256Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
Remark"The only GDI homologue in C_elegans, gdi-1, as well as rab-5 are essential genes, therefore we could not test whether loss of either of these genes suppresses gpa-3QL(syIs25). Instead, we tested whether mutations in the GEFs rabx-5 and rme-6 and the GAP tbc-2, which activate and inactivate RAB-5 respectively, are suppressors. Interestingly, rabx-5(ok1763); gpa-3QL(syIs25) animals are dye-filling, indicating that rabx-5(ok1763) is a suppressor of gpa-3QL(syIs25) (Fig 5A). Cilium length measurements showed that mutation of rabx-5 significantly restored cilium length in gpa-3QL(syIs25) animals (Fig 5C). Also rme-6(b1014), the other RAB-5 GEF, suppressed the gpa-3QL induced dye filling defect (Fig 5B). Mutation of the RAB-5 GAP, tbc-2 (tm2241), did not suppress the gpa-3QL dye filling defect (Fig 5A)."Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
Phenotype_assayGenotypegpa-3QL(syIs25)Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000039Paper_evidenceWBPaper00038458
Curator_confirmedWBPerson557
WBPhenotype:0000679Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
Remark"First, we analyzed whether GFP::RAB-5 localization was affected by mutation of its GEFs or GAP. Mutation of the RAB-5 GEF rme-6 resulted in increased GFP::RAB-5 levels, whereas mutation of rabx-5 only slightly affected GFP::RAB-5 levels, although quantification of the fluorescence intensities did not reveal a significant difference between wild type and rme-6 or rabx-5 animals (Fig 6B and 6C). Inactivation of the RAB-5 GAP in tbc-2(tm2241) animals did not affect GFP::RAB-5 levels (Fig 6B and 6C)."Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeGFP::RAB-5Paper_evidenceWBPaper00048972
Curator_confirmedWBPerson2987
WBPhenotype:0010004Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
RemarkMutant worms did not show any defects in corpse removalPaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
ReferenceWBPaper00038458
WBPaper00031805
WBPaper00048972
MethodSubstitution_allele