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WormBase Tree Display for Variation: WBVar00142816

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Name Class

WBVar00142816EvidencePaper_evidenceWBPaper00005054
NamePublic_namedh6
Other_nameCE53632:p.Gln225Ter
T13C5.1c.1:c.673C>T
CE30451:p.Gln246Ter
T13C5.1a.1:c.781C>T
T13C5.1b.1:c.736C>T
CE27206:p.Gln261Ter
HGVSgCHROMOSOME_X:g.6199421C>T
Sequence_detailsSMapS_parentSequenceT13C5
Flanking_sequencescttgctggagcgattgctaatgtgattcaaaaatcactattggacgcaattacatgtacc
Mapping_targetT13C5
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000019
LaboratoryAA
StatusLive
AffectsGeneWBGene00000905
TranscriptT13C5.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT13C5.1c.1:c.673C>T
HGVSpCE53632:p.Gln225Ter
cDNA_position673
CDS_position673
Protein_position225
Exon_number4/10
Codon_changeCaa/Taa
Amino_acid_changeQ/*
T13C5.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT13C5.1b.1:c.736C>T
HGVSpCE30451:p.Gln246Ter
cDNA_position736
CDS_position736
Protein_position246
Exon_number5/10
Codon_changeCaa/Taa
Amino_acid_changeQ/*
T13C5.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT13C5.1a.1:c.781C>T
HGVSpCE27206:p.Gln261Ter
cDNA_position842
CDS_position781
Protein_position261
Exon_number7/13
Codon_changeCaa/Taa
Amino_acid_changeQ/*
InteractorWBInteraction000004712
WBInteraction000005471
WBInteraction000517971
WBInteraction000532938
GeneticsInterpolated_map_positionX-3.46627
DescriptionPhenotypeWBPhenotype:0000012Paper_evidenceWBPaper00027611
WBPaper00037672
WBPaper00024451
Curator_confirmedWBPerson712
WBPerson2987
RemarkEndogenous dafachronic acid (DA) production is eliminated by the daf-9(dh6) mutation, resulting in 100% dauer formation. This phenotype can be rescued by exogenous DA [(25S),26-3-keto-4-cholestenoic acid] added to the medium.Paper_evidenceWBPaper00037672
Curator_confirmedWBPerson712
Figure 3APaper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
PenetranceCompletePaper_evidenceWBPaper00037672
Curator_confirmedWBPerson712
100Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000032PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO_termGO:0040024PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000077Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Remark"Partial reduction of daf-9 function results in animals that bypass the dauer stage yet exhibit abnormal gonadal morphogenesis and migration (Mig; WBPhenotype:0000594) and occasionally aberrant cuticle shedding (Cut; WBPhenotype: 0000077) defects (Figure 2A) [18,19]."Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were exposed to 10nM dafachronic acidPaper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
WBPhenotype:0000083Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
RemarkFigure 2A,2DPaper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were exposed to 10nM dafachronic acidPaper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
WBPhenotype:0000138Paper_evidenceWBPaper00034639
Curator_confirmedWBPerson2021
RemarkIn daf-9-deficient dauer-like larvae, 4-MS are highly increased in comparison to N2Paper_evidenceWBPaper00034639
Curator_confirmedWBPerson2021
WBPhenotype:0000447Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Remark"Most daf-9(dh6) null animals developed into abnormal adults when supplemented with a minimum of 10 nM DA (Figure 2B, 74% +/- 42% non-dauers), suggesting that a threshold of DA has to be crossed before committing to adult fate (dauer bypass DA threshold)."Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were exposed to 10nM dafachronic acidPaper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
WBPhenotype:0000637Paper_evidenceWBPaper00032886
Curator_confirmedWBPerson712
RemarkRescue of the dauer phenotype was assayed with various dafachronic acid isomers.Paper_evidenceWBPaper00032886
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00032886
Curator_confirmedWBPerson712
Phenotype_assayGenotypedhEx24Paper_evidenceWBPaper00032886
Curator_confirmedWBPerson712
WBPhenotype:0000690Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Remark"Partial reduction of daf-9 function results in animals that bypass the dauer stage yet exhibit abnormal gonadal morphogenesis and migration (Mig; WBPhenotype:0000594) and occasionally aberrant cuticle shedding (Cut; WBPhenotype: 0000077) defects (Figure 2A) [18,19]."Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were exposed to 10nM dafachronic acidPaper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
WBPhenotype:0000964Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00000896Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
WBPhenotype:0001184Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
RemarkFigure 6D,KPaper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000046PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFat staining performed with Nile RedPaper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Temperature25Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0001355Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
Remark"Partial reduction of daf-9 function results in animals that bypass the dauer stage yet exhibit abnormal gonadal morphogenesis and migration (Mig; WBPhenotype:0000594) and occasionally aberrant cuticle shedding (Cut; WBPhenotype: 0000077) defects (Figure 2A) [18,19]."Paper_evidenceWBPaper00040979
Curator_confirmedWBPerson2987
ReferenceWBPaper00024451
WBPaper00040979
WBPaper00027611
WBPaper00034639
WBPaper00037672
WBPaper00032886
MethodSubstitution_allele