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WormBase Tree Display for Variation: WBVar00248986

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Name Class

WBVar00248986NamePublic_namesy428
Other_nameCE38269:p.Arg180Ter
CE08039:p.Arg180Ter
CE38270:p.Arg180Ter
C09E10.2d.1:c.538C>T
C09E10.2e.1:c.538C>T
C09E10.2b.1:c.538C>T
C09E10.2c.1:c.538C>T
CE08038:p.Arg180Ter
C09E10.2a.1:c.538C>T
CE38268:p.Arg180Ter
HGVSgCHROMOSOME_X:g.989709G>A
Sequence_detailsSMapS_parentSequenceC09E10
Flanking_sequencestgcttctcaacggaatgccttgccggaatggatgtgaatggtgtggtcagacggttagtt
Mapping_targetC09E10
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00024616
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00030867
LaboratoryPS
StatusLive
AffectsGeneWBGene00000958
TranscriptC09E10.2d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC09E10.2d.1:c.538C>T
HGVSpCE38269:p.Arg180Ter
cDNA_position538
CDS_position538
Protein_position180
Exon_number4/14
Codon_changeCga/Tga
Amino_acid_changeR/*
C09E10.2c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC09E10.2c.1:c.538C>T
HGVSpCE38268:p.Arg180Ter
cDNA_position538
CDS_position538
Protein_position180
Exon_number4/14
Codon_changeCga/Tga
Amino_acid_changeR/*
C09E10.2a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC09E10.2a.1:c.538C>T
HGVSpCE08038:p.Arg180Ter
cDNA_position681
CDS_position538
Protein_position180
Exon_number5/18
Codon_changeCga/Tga
Amino_acid_changeR/*
C09E10.2e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC09E10.2e.1:c.538C>T
HGVSpCE38270:p.Arg180Ter
cDNA_position538
CDS_position538
Protein_position180
Exon_number4/15
Codon_changeCga/Tga
Amino_acid_changeR/*
C09E10.2b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC09E10.2b.1:c.538C>T
HGVSpCE08039:p.Arg180Ter
cDNA_position681
CDS_position538
Protein_position180
Exon_number5/18
Codon_changeCga/Tga
Amino_acid_changeR/*
InteractorWBInteraction000518038
WBInteraction000542426
WBInteraction000542430
WBInteraction000542434
WBInteraction000542438
GeneticsInterpolated_map_positionX-18.8693
DescriptionPhenotypeWBPhenotype:0000004Paper_evidenceWBPaper00032082
WBPaper00050796
Curator_confirmedWBPerson712
WBPerson2987
RemarkAnimals displayed an empty uterus.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
"We evaluated this question by crossing the grk-2(gk268) and grk-2(rt97) alleles with strains that are constitutive egg layers. These strains include a gain-of-function strain that has activated Gαq (egl-30(ep271)) as well as loss-of-function strains that are defective in Gαo (goa-1(n1134)), the G protein that inhibits egg laying; EAT-16 (eat-16(ep273)), the regulator of G protein signaling (RGS) protein of Gαq; or diacylglycerol kinase (dgk-1(sy428)), a potential effector enzyme that phosphorylates diacylglycerol." (Figure 3A)Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0018991PATO:0002356Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentYoung well-fed animals were scoredPaper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0000016Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkMeasured by the fraction of animals moving after incubation on 0.1mM aldicarb agar pads. 0 animals were moving compared to ~0.79 N2 animals.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001549Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0000019Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkAnimals exhibited reduced pumping rates similar to daf-7(e1372).Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentPumping rates were assayed for well-fed , pheromone-untreated; food-deprived, pheromone-untreated; and well-fed, pheromone-treated animals. Pheromone treatment consisted of transfer of animals grown under well-fed conditions to plates containing 30 ul/ml of a dauer-pheromone prep (Golden and Riddle, 1982) and 30 ml of OP50 E. coli food.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature20Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0000641Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkDispersal index in the absence of anesthetic ~0.47 is decreased compared to N2 ~0.90.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDispersal assay as reported in Crowder et al.1996; van Swinderen et al. 1997.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0001182Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkFat levels were similar to that seen in wild-type but are reduced when compared to daf-7(e1375) as determined by Sudan Black assay (described in Kimura et al., 1997).Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentTo minimize staining variability, which allowed for quantitative comparisons between various genotypes: animals from one genotype were labeled with fluorescein isothiocyanate (FITC) and then fixed and stained in the same tube as unlabeled animals from another genotype.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature22Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0001618Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 for halothane statistically insignificant from that of N2 as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001705Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Genotypegoa-1(syIs17)Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001619Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 for isoflurane statistically insignificant from that of N2 as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004563Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTemperature25CPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Genotypegoa-1(syIs17)Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0002114Paper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
RemarkAnimals do not become paralyzed after 10 minutes of swimming.Paper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
ReferenceWBPaper00038270
WBPaper00032082
WBPaper00004721
WBPaper00016916
WBPaper00050796
WBPaper00065340
WBPaper00065992
MethodSubstitution_allele