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WormBase Tree Display for Variation: WBVar00143879

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Name Class

WBVar00143879EvidencePaper_evidenceWBPaper00031000
NamePublic_namee1272
Other_nameF25C8.3a.1:c.7512G>A
CE43592:p.Trp2542Ter
CE41563:p.Trp2504Ter
CE47428:p.Trp2439Ter
F25C8.3b.1:c.7449G>A
CE47117:p.Trp2483Ter
F25C8.3e.1:c.7317G>A
F25C8.3d.1:c.7626G>A
F25C8.3c.1:c.7422G>A
CE47217:p.Trp2474Ter
HGVSgCHROMOSOME_V:g.20895778G>A
Sequence_detailsSMapS_parentSequenceF25C8
Flanking_sequencesagcagcagttaaacatgaaatatcgcaatgatcacaatggctgtcgaaatgaaagcttta
Mapping_targetF25C8
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00031000
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004286
LaboratoryCB
StatusLive
AffectsGeneWBGene00006812
TranscriptF25C8.3d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF25C8.3d.1:c.7626G>A
HGVSpCE43592:p.Trp2542Ter
cDNA_position7626
CDS_position7626
Protein_position2542
Exon_number31/37
Codon_changetgG/tgA
Amino_acid_changeW/*
F25C8.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF25C8.3b.1:c.7449G>A
HGVSpCE47117:p.Trp2483Ter
cDNA_position7702
CDS_position7449
Protein_position2483
Exon_number29/36
Codon_changetgG/tgA
Amino_acid_changeW/*
F25C8.3e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF25C8.3e.1:c.7317G>A
HGVSpCE47428:p.Trp2439Ter
cDNA_position7317
CDS_position7317
Protein_position2439
Exon_number27/34
Codon_changetgG/tgA
Amino_acid_changeW/*
F25C8.3c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF25C8.3c.1:c.7422G>A
HGVSpCE47217:p.Trp2474Ter
cDNA_position7422
CDS_position7422
Protein_position2474
Exon_number29/35
Codon_changetgG/tgA
Amino_acid_changeW/*
F25C8.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF25C8.3a.1:c.7512G>A
HGVSpCE41563:p.Trp2504Ter
cDNA_position7512
CDS_position7512
Protein_position2504
Exon_number30/37
Codon_changetgG/tgA
Amino_acid_changeW/*
InteractorWBInteraction000052191
WBInteraction000052325
WBInteraction000052354
WBInteraction000503536
IsolationMutagenEMSPaper_evidenceWBPaper00031000
GeneticsInterpolated_map_positionV25.6082
DescriptionPhenotypeWBPhenotype:0000044Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
RemarkAnimals lay unusually small eggs.Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkslightly sluggishPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001048Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkhypersensitive to volatile anaestheticsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001592Paper_evidenceWBPaper00000958
WBPaper00031592
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkFainter phenotype reported to authors by J.A. Lewis.Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
Animals exhibit recessive and fully penetrant fainter phenotypes identical to that of the nca(lf) double mutant.Paper_evidenceWBPaper00031592
Curator_confirmedWBPerson712
tends to pause ("fainter")Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000958
WBPaper00031592
Curator_confirmedWBPerson712
WBPhenotype:0001610Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Phenotype_assayTreatment50 animals were scored for mobility for 10 sec at each concentration of anesthetic. Immobility was used as the end point, which in all cases was reversible 10-15 min after removal from the anesthetic. Animals were tested over a minimum of 12 concentrations. EC50 = percent volume at which 50% animals were immobile for 10 sec.Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Temperature22-24CPaper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
WBPhenotype:0001611Paper_evidenceWBPaper00000958
WBPaper00002037
Curator_confirmedWBPerson712
RemarkAnimals have a lower EC50 (1.28 0.04 vol%) compared to N2 (3.2 0.06 vol%). By 2 vol% halothane, virtually all unc-80 animals were completely immobile. EC50 is the effective dose at which 50% of the animals are anesthetized.Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnesthetic response assay was performed as described in Morgan and Cascorbi, 1985. Briefly, agar plates of worms were placed in a sealed chamber, which was injected with halothane. Worms were observed through the lid of the chamber under a dissecting scope. When the animals stopped moving and assumed a straight posture they were considered anesthesized. The gas in the chamber was removed and its concentration determined with a gas chromatograph.Paper_evidenceWBPaper00000958
Curator_confirmedWBPerson712
50 animals were scored for mobility for 10 sec at each concentration of anesthetic. Immobility was used as the end point, which in all cases was reversible 10-15 min after removal from the anesthetic. Animals were tested over a minimum of 12 concentrations. EC50 = percent volume at which 50% animals were immobile for 10 sec.Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Temperature22-24CPaper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0001608Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Phenotype_assayTreatment50 animals were scored for mobility for 10 sec at each concentration of anesthetic. Immobility was used as the end point, which in all cases was reversible 10-15 min after removal from the anesthetic. Animals were tested over a minimum of 12 concentrations. EC50 = percent volume at which 50% animals were immobile for 10 sec.Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Temperature22-24CPaper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
WBPhenotype:0001609Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Phenotype_assayTreatment50 animals were scored for mobility for 10 sec at each concentration of anesthetic. Immobility was used as the end point, which in all cases was reversible 10-15 min after removal from the anesthetic. Animals were tested over a minimum of 12 concentrations. EC50 = percent volume at which 50% animals were immobile for 10 sec.Paper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
Temperature22-24CPaper_evidenceWBPaper00002037
Curator_confirmedWBPerson712
WBPhenotype:0004018Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkgood movementPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00014310
WBPaper00000958
WBPaper00002037
WBPaper00031592
WBPaper00003257
MethodSubstitution_allele