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WormBase Tree Display for Variation: WBVar00275099

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Name Class

WBVar00275099EvidencePaper_evidenceWBPaper00035082
NamePublic_namevs132
Other_nameH16O14.1c.1:c.1508_1509delinsAA
H16O14.1e.1:c.1217_1218delinsAA
H16O14.1d.1:c.1589_1590delinsAA
CE44232:p.Trp503Ter
CE44251:p.Trp480Ter
H16O14.1b.1:c.1439_1440delinsAA
CE49181:p.Trp406Ter
H16O14.1a.1:c.1385_1386delinsAA
CE49266:p.Trp530Ter
CE44206:p.Trp462Ter
HGVSgCHROMOSOME_IV:g.6068853_6068854delinsAA
Sequence_detailsSMapS_parentSequenceH16O14
Flanking_sequencesatgggaaaattgatcatttcggaaatttcctccatttccacaagtaattctttttggatgtt
Mapping_targetH16O14
Type_of_mutationSubstitutionggrrPaper_evidenceWBPaper00035082
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (11)
LaboratoryLX
StatusLive
AffectsGeneWBGene00019205
TranscriptH16O14.1e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScH16O14.1e.1:c.1217_1218delinsAA
HGVSpCE49181:p.Trp406Ter
cDNA_position1217-1218
CDS_position1217-1218
Protein_position406
Exon_number5/12
Codon_changetGG/tAA
Amino_acid_changeW/*
H16O14.1d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScH16O14.1d.1:c.1589_1590delinsAA
HGVSpCE49266:p.Trp530Ter
cDNA_position1589-1590
CDS_position1589-1590
Protein_position530
Exon_number8/15
Codon_changetGG/tAA
Amino_acid_changeW/*
H16O14.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScH16O14.1b.1:c.1439_1440delinsAA
HGVSpCE44251:p.Trp480Ter
cDNA_position1543-1544
CDS_position1439-1440
Protein_position480
Exon_number8/16
Codon_changetGG/tAA
Amino_acid_changeW/*
H16O14.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScH16O14.1a.1:c.1385_1386delinsAA
HGVSpCE44206:p.Trp462Ter
cDNA_position1385-1386
CDS_position1385-1386
Protein_position462
Exon_number7/15
Codon_changetGG/tAA
Amino_acid_changeW/*
H16O14.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScH16O14.1c.1:c.1508_1509delinsAA
HGVSpCE44232:p.Trp503Ter
cDNA_position1784-1785
CDS_position1508-1509
Protein_position503
Exon_number8/16
Codon_changetGG/tAA
Amino_acid_changeW/*
InteractorWBInteraction000501231
WBInteraction000504780
WBInteraction000517363
WBInteraction000517364
WBInteraction000517365
GeneticsInterpolated_map_positionIV2.95644
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkAnimals exhibit decreased egg production.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0000324Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkMutants were modestly shorter than wild type animals.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0000774Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Remarkkcc-2 mutants show a decrease in egg productionPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0001101Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkIn contrast to the 99% inhibition of egg laying seen in the wild type, muscimol caused only a 14% reduction in the kcc-2 mutantPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0001204Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkMutants failed to show the rubber-band phenotype when prodded after muscimol treatment unlike wild-type. In kcc-2 mutants, the effect of muscimol was reversed and a significant decrease in body length was observedPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0001236Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkWe observed that abts-1::gfp expression was significantly increased in the HSNs of kcc-2 mutants (Figure 7G, H, and L). There was a 2.3-fold increase in GFP fluorescence in the HSNs of kcc-2 mutants as compared with wild-type animals.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0001628Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Remarkkcc-2 mutants are resistant to the paralysis induced by serotonin treatmentPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0001670Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkThere was a significant decrease in the size of the synaptic vesicle population within HSN presynaptic termini of kcc-2 mutants. The total amount of SNB-1::GFP fluorescence in the synaptic region of the kcc-2 mutant was 28.6% less than in the wildtypePaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0002047Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkMutants show excitatory rather than inhibitory responses to the GABA A agonist muscimol.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003906Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0002071Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkMutants exposed to muscimol undergo a decrease in body length, whereas wild-type animals exposed to muscimol experience a significant increase in body length.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003906Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000005Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkWild-type and kcc-2 mutants have similar egg-laying ratesPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0000180Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkHSN process morphology was not altered in kcc-2 mutants. The total volume of the varicosities was not altered in the kcc-2 mutant compared with the wild-typePaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0000546Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkThese mutants show well-coordinated locomotion.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
WBPhenotype:0000847Paper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
RemarkAn analysis of GFP::SYD-2 to visualize active zones in the HSNs of wild-type and kcc-2 mutants showed no detectable difference in this active zone markerPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035082
Curator_confirmedWBPerson2021
WBPhenotype:0001703Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
RemarkWild-type animals and kcc-2 mutants performed a similar number of coordinated body bends.Paper_evidenceWBPaper00038249
Curator_confirmedWBPerson712
ReferenceWBPaper00038249
WBPaper00035082
RemarkManually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00019205 Amber_UAG_or_Opal_UGA W to stopPaper_evidenceWBPaper00035082
MethodSubstitution_allele