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WormBase Tree Display for Variation: WBVar00145615

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Name Class

WBVar00145615EvidencePaper_evidenceWBPaper00032077
NamePublic_namegk208
HGVSgCHROMOSOME_IV:g.5376892_5377136delinsTTTTTTT
Sequence_detailsSMapS_parentSequenceF41H10
Flanking_sequencesctgataacaaagtaggaaaagtgaataagacggttttatagttttttagatggaatcgcg
Mapping_targetF41H10
Type_of_mutationInsertionTTTTTTT
Deletion
PCR_productgk208_external
gk208_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00035748
LaboratoryVC
PersonWBPerson427
KO_consortium_allele
StatusLive
AffectsGeneWBGene00001243
TranscriptF41H10.7.1VEP_consequencecoding_sequence_variant,5_prime_UTR_variant
VEP_impactMODIFIER
cDNA_position?-226
CDS_position?-211
Protein_position?-71
Exon_number1-2/6
IsolationMutagenTMP/UV
DescriptionPhenotypeWBPhenotype:0000055Paper_evidenceWBPaper00024532
Curator_confirmedWBPerson2239
Remarkelo-5 encodes condensing enzyme (ELO-5) required for biosynthesis of C15 and C17 mono-methyl branched-chain fatty acids from shorter precursorsPaper_evidenceWBPaper00024532
Curator_confirmedWBPerson2239
WBPhenotype:0000059Paper_evidenceWBPaper00046678
WBPaper00044266
WBPaper00042436
Curator_confirmedWBPerson2239
WBPerson237
WBPerson7452
RemarkLarval arrest suppressed by nprl-3(ku540)Paper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
Larval arrest was suppressed by dsRNA injection of nprl-2Paper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
WBPhenotype:0000081Paper_evidenceWBPaper00032077
WBPaper00046678
Curator_confirmedWBPerson712
WBPerson2239
RemarkMutants cultured on plates seeded with mmBCFA-free bacteria such as OP50, fail to grow past the L3 stage. The elo-5(-) phenotype can be partially rescued by the 1 mM C13ISO supplement and fully rescued at concentrations higher than 2 mM. The C13ISO supplement allowed one generation of elo-5(-) animals depleted for C17ISO to develop into fertile adults. Full rescue can also be achieved by supplementing with certain concentrations of C17ISO; however, F2 progeny of F1 animals uniformly enter L1 diapause.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
Phenotype_assayTreatmentThe homozygous lethal elo-5(lf) strain is maintained on NGM plates seeded with E. coli OP50 mixed with supplementary 1 mM C17ISO dissolved in 10% DMSO (final concentration in bacterial suspension) or on NGM plates seeded with a mixture of OP50 and mmBCFA-producing bacteria Stenotrophomonas maltophilia.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
WBPhenotype:0000135Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
Remarkacs-1 gene expression in C17ISO deficient animals is significantly increased (~7-fold increase relative to wild-type levels), as determined by qPCR analysis.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
Phenotype_assayTreatmentThe homozygous lethal elo-5(lf) strain is maintained on NGM plates seeded with E. coli OP50 mixed with supplementary 1 mM C17ISO dissolved in 10% DMSO (final concentration in bacterial suspension) or on NGM plates seeded with a mixture of OP50 and mmBCFA-producing bacteria Stenotrophomonas maltophilia.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
WBPhenotype:0000383Paper_evidenceWBPaper00032077
WBPaper00042436
Curator_confirmedWBPerson712
WBPerson7452
RemarkThe elongation os C13ISO to C15ISO was drastically reduced in elo-5(lf) animals as determined by GC (data not shown).Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
mmBCFA-containing sphingolipids are dramatically reducedPaper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
Supplementation with d17iso-sphinganine fully rescues L1 arrestPaper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
WBPhenotype:0000436Paper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
RemarkFIB-1 nucleolar protein was reduced and mislocalized in a diffuse pattern in the DAPI-stained nucleusPaper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
FIB-1 nucleolar protein level and localization were recovered by nprl-3(ku450)Paper_evidenceWBPaper00042436
Curator_confirmedWBPerson7452
WBPhenotype:0000517Paper_evidenceWBPaper00046678
Curator_confirmedWBPerson2239
WBPhenotype:0000679Paper_evidenceWBPaper00047025
Curator_confirmedWBPerson2987
Remarkelo-5(gk208) results in mislocalized ERM-1::GFP; ERM-1::GFP is localized to the apical intestinal cell membrane in wild type animals but is diffuse in elo-5(gk208) animalsPaper_evidenceWBPaper00047025
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeERM-1::GFPPaper_evidenceWBPaper00047025
Curator_confirmedWBPerson2987
WBPhenotype:0000717Paper_evidenceWBPaper00046678
Curator_confirmedWBPerson2239
Phenotype_not_observedWBPhenotype:0000706Paper_evidenceWBPaper00047025
Curator_confirmedWBPerson2987
Remarkelo-5(gk208) animals did not exhibit different numbers of acidified gut granules, as determined by microspcopy following worms' ingestion of LysoTracker Red. (Figure S3H-J)Paper_evidenceWBPaper00047025
Curator_confirmedWBPerson2987
WBPhenotype:0000778Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
RemarkArrested larva are able to feed as determined by the presence of bright GFP-labeled intact bacterial cells in pharyngeal tube and partially digested bacterial cells in the anterior and posterior part of the intestinal tube of larvae.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
Phenotype_assayTreatmentelo-5(lf) adults maintained on S. maltophilia or C17ISO supplements were bleached and the released eggs were placed on E. coli OP50-GFP (CGC) supplemented with C13ISO. The L1 arrested larvae of the next generation were evaluated for uptake and digestion of the bacteria using GFP imaging.Paper_evidenceWBPaper00032077
Curator_confirmedWBPerson712
ReferenceWBPaper00024532
WBPaper00032077
WBPaper00042436
WBPaper00044266
WBPaper00046678
WBPaper00047025
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele