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WormBase Tree Display for Variation: WBVar00089700

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Name Class

WBVar00089700EvidencePaper_evidenceWBPaper00002413
NamePublic_namen717
Other_nameC48D1.2b.1:c.562-1G>A
C48D1.2a.1:c.1210-1G>A
HGVSgCHROMOSOME_IV:g.13200009C>T
Sequence_detailsSMapS_parentSequenceC48D1
Flanking_sequencestttttaaatgataattaataaatttttgcacaagtgtggagaaagaagccgagccaagct
Mapping_targetC48D1
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00002413
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005600
WBStrain00005836
WBStrain00026860
WBStrain00026968
WBStrain00027213
WBStrain00027223
WBStrain00027232
WBStrain00027287
WBStrain00040671
WBStrain00040674
LaboratoryMT
StatusLive
AffectsGeneWBGene00000417
TranscriptC48D1.2a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScC48D1.2a.1:c.1210-1G>A
Intron_number7/9
C48D1.2b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScC48D1.2b.1:c.562-1G>A
Intron_number3/4
Interactor (29)
GeneticsInterpolated_map_positionIV8.46245
Mapping_dataIn_multi_point689
690
896
In_pos_neg_data831
DescriptionPhenotypeWBPhenotype:0000184Paper_evidenceWBPaper00044144
Curator_confirmedWBPerson2987
Remarkced-3(n717) completely suppressed the accumulation of germ cell corpses seen in dlc-1(RNAi) wormsPaper_evidenceWBPaper00044144
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeCED-1::GFP; dlc-1(RNAi)Paper_evidenceWBPaper00044144
Curator_confirmedWBPerson2987
WBPhenotype:0000216Paper_evidenceWBPaper00038432
Curator_confirmedWBPerson712
RemarkAnimals displayed a weak extra A/PVM phenotype.Paper_evidenceWBPaper00038432
Curator_confirmedWBPerson712
Phenotype_assayGenotypeayIs9[Pegl-17::gfp]Paper_evidenceWBPaper00038432
Curator_confirmedWBPerson712
WBPhenotype:0000386Paper_evidenceWBPaper00033433
Curator_confirmedWBPerson2987
RemarkCopper-induced germ cell apoptosis was abolished in ced-3(n717) mutants (Figure 2A).Paper_evidenceWBPaper00033433
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00002862Paper_evidenceWBPaper00033433
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentWorms were exposed to 10 micromolar of copper for 12 hoursPaper_evidenceWBPaper00033433
Curator_confirmedWBPerson2987
WBPhenotype:0000414Paper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
RemarkThe sisters of ASEL and ASER (which normally undergo apoptosis) survive and adopt the same fate as ASEL and ASER respectivelyPaper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
PenetranceHigh95 percentPaper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0005952PATO:0000460Paper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
WBbt:0006657PATO:0000460Paper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentAll animals scored at 25C.Paper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
Temperature25CPaper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
GenotypeotIs114 [lim-6p::GFP], ntIs1 [gcy-5p::GFP]Paper_evidenceWBPaper00030973
Curator_confirmedWBPerson2021
WBPhenotype:0000590Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
RemarkGermline cell corpse number is decreased compared to wild type.Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005784PATO:0000460Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
Life_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
Phenotype_assayTreatmentGermline corpses were quantified in staged adults (generally 24 hours after L4/adult molt) stained with SYTO12.Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
Genotypeced-10(RNAi)Paper_evidenceWBPaper00028561
Curator_confirmedWBPerson712
WBPhenotype:0000965Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Remark12.11.1 (n=15) extra cells were counted in the anterior pharynx.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Phenotype_assayTreatmentL3-L4 larvae were assayed.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
WBPhenotype:0001014Paper_evidenceWBPaper00035076
Curator_confirmedWBPerson2021
RemarkSalmonella infection decreased the lifespan of wild-type worms more than that of ced-3(n717)-mutant animals, indicating that the ced-3 mutation protects against Salmonella infectionPaper_evidenceWBPaper00035076
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00035076
Curator_confirmedWBPerson2021
WBPhenotype:0001172Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkProgrammed cell deaths fail to occur. Very hard to score (ES1); difficult to score (ES2) in egl-1 background.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001268Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
RemarkThe number of germ cell corpses per gonad arm was not changed above control levels after administration of 1uM ceramide.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004926Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005175PATO:0000460Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Phenotype_assayTreatment1uM C16-ceramide was microinjected into the gonad.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
WBPhenotype:0001270Paper_evidenceWBPaper00004574
Curator_confirmedWBPerson712
RemarkNo germ-line cell deaths were observed in a ced-3 mutant feeding on E. coli or S. typhimurium.Paper_evidenceWBPaper00004574
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005784PATO:0000460Paper_evidenceWBPaper00004574
Curator_confirmedWBPerson712
WBPhenotype:0001271Paper_evidenceWBPaper00004574
Curator_confirmedWBPerson712
Remarkced-3 mutants are hypersusceptible to S. typhimurium-mediated killing. ced-3 mutants died much more quickly than wild-type worms when feeding on S. typhimurium, but died at the same rate as wild-type worms when feeding on E. coli.Paper_evidenceWBPaper00004574
Curator_confirmedWBPerson712
WBPhenotype:0001620Paper_evidenceWBPaper00053621
Curator_confirmedWBPerson28450
WBPhenotype:0001621Paper_evidenceWBPaper00053621
Curator_confirmedWBPerson28450
WBPhenotype:0001964Paper_evidenceWBPaper00051461
Curator_confirmedWBPerson28450
WBPhenotype:0002541Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
RemarkRadiation-induced germ cell apoptosis was abolished.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005784PATO:0000460Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAt least 20 animals were scored for germ cell apoptosis at 36 hours post-120 Gy and compared to WT-irradiated controls.Paper_evidenceWBPaper00032243
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
RemarkAnimals produced viable progeny.Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
WBPhenotype:0000072Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkNo gross phenotype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000590Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
WBPhenotype:0000966Paper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
Remarkgermline is immortal at 20 and 25 degrees CelsiusPaper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
Phenotype_assayTreatmentStrains propagated for many generations and checked for sterilityPaper_evidenceWBPaper00028759
Curator_confirmedWBPerson557
WBPhenotype:0001381Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
Remarkced-3(n717) mutant worms were not resistant to anoxia exposure when fed a glucose-supplemented diet (Figure S1C)Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003916Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
WBPhenotype:0001650Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
RemarkGerm cells are condensed and unhealthy although not as severely altered as those of at wild type or ced-9 animals.Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were grown on plates containing 400nM 5-FU for 12 hours from late L4 stage.Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
WBPhenotype:0001651Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
RemarkAnimals did not progress to L4 (data not shown).Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
Phenotype_assayTreatmentEmbryos were transferred to plates containing 5-FU and remaining larva were counted after 72 hours.Paper_evidenceWBPaper00031571
Curator_confirmedWBPerson712
WBPhenotype:0001851Paper_evidenceWBPaper00027700
Curator_confirmedWBPerson2021
RemarkMutants did not display significant radiosensitivity when compared with WT N2 C. elegansPaper_evidenceWBPaper00027700
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00027700
Curator_confirmedWBPerson2021
Life_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00027700
Curator_confirmedWBPerson2021
Phenotype_assayTreatment100-400 Gy radiationPaper_evidenceWBPaper00027700
Curator_confirmedWBPerson2021
WBPhenotype:0002486Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Remark"Mutations in genes within the ced-1/6/7 pathway (ced-1, ced-7, nrf-5, ttr-52), the ced-2/5/12 pathway (ced-2, ced-5), or both pathways (ced-1;ced-2 and ced-7;ced-5) did not cause PGC lobes to persist in L1 larvae (Supplementary Table 1), indicating that ced-10 functions in PGC lobe scission in a different context than it does in cell corpse engulfment." (PGC = 'primordial germ cell')Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectPredicted_null_via_sequencePaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004576PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBbt:0004575PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAll strains include the xnIs360 or xnSi1 transgenes to visualize PGC membranes.Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
ReferenceWBPaper00016474
WBPaper00016510
WBPaper00038332
WBPaper00038432
WBPaper00027269
WBPaper00016118
WBPaper00011119
WBPaper00016322
WBPaper00011213
WBPaper00030973
WBPaper00014787
WBPaper00028561
WBPaper00014971
WBPaper00027700
WBPaper00022236
WBPaper00004574
WBPaper00023668
WBPaper00017942
WBPaper00010182
WBPaper00028759
WBPaper00023380
WBPaper00019525
WBPaper00031571
WBPaper00032243
WBPaper00033433
WBPaper00035076
WBPaper00010325
WBPaper00044144
WBPaper00046527
WBPaper00050421
WBPaper00051461
WBPaper00053621
WBPaper00065007
MethodSubstitution_allele