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WormBase Tree Display for Variation: WBVar00088574

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Name Class

WBVar00088574EvidencePaper_evidenceWBPaper00003977
NamePublic_namem86
Other_nameCE02205:p.Arg88Ter
F33H1.1e.1:c.262C>T
CE43609:p.Arg111Ter
F33H1.1c.1:c.214C>T
F33H1.1a.1:c.688C>T
F33H1.1b.1:c.763C>T
CE17763:p.Arg230Ter
CE01567:p.Arg72Ter
F33H1.1d.1:c.331C>T
CE28019:p.Arg255Ter
HGVSgCHROMOSOME_II:g.10160814G>A
Sequence_detailsSMapS_parentSequenceF33H1
Flanking_sequencesgcagactcgatcaacttgccgaacaatcaagagcttcccccgcaacggtatgaataaaac
Mapping_targetF33H1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00003977
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (34)
LaboratoryDR
JT
NFB
StatusLive
AffectsGeneWBGene00000914
TranscriptF33H1.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF33H1.1c.1:c.214C>T
HGVSpCE01567:p.Arg72Ter
cDNA_position380
CDS_position214
Protein_position72
Exon_number4/9
Codon_changeCga/Tga
Amino_acid_changeR/*
F33H1.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF33H1.1a.1:c.688C>T
HGVSpCE17763:p.Arg230Ter
cDNA_position713
CDS_position688
Protein_position230
Exon_number7/13
Codon_changeCga/Tga
Amino_acid_changeR/*
F33H1.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF33H1.1b.1:c.763C>T
HGVSpCE28019:p.Arg255Ter
cDNA_position787
CDS_position763
Protein_position255
Exon_number8/14
Codon_changeCga/Tga
Amino_acid_changeR/*
F33H1.1e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF33H1.1e.1:c.262C>T
HGVSpCE02205:p.Arg88Ter
cDNA_position262
CDS_position262
Protein_position88
Exon_number3/8
Codon_changeCga/Tga
Amino_acid_changeR/*
F33H1.1d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF33H1.1d.1:c.331C>T
HGVSpCE43609:p.Arg111Ter
cDNA_position405
CDS_position331
Protein_position111
Exon_number5/11
Codon_changeCga/Tga
Amino_acid_changeR/*
Interactor (54)
GeneticsInterpolated_map_positionII2.13278
Mapping_dataIn_2_point444
769
3381
In_multi_point (3)
In_pos_neg_data4206
4207
4208
4209
4210
4211
4537
DescriptionPhenotypeWBPhenotype:0000012Paper_evidenceWBPaper00000932
WBPaper00002149
WBPaper00039866
WBPaper00004071
WBPaper00037652
WBPaper00003977
Curator_confirmedWBPerson712
WBPerson641
RemarkPers. comm. to authors from D. Riddle.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
daf-19 (m86) mutants display a highly penetrant dauer constitutive (Daf-c) phenotype at all temperatures.Paper_evidenceWBPaper00039866
Curator_confirmedWBPerson712
Constitutive dauer formation at 25C, reversible by shift to 15C. Easy to score (ES3) in L3.Paper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
Table 1Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00000932
WBPaper00002149
WBPaper00004071
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePaper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
WBPhenotype:0000017Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
RemarkFigure 5Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
WBPhenotype:0000134Paper_evidenceWBPaper00050371
WBPaper00003977
Curator_confirmedWBPerson712
WBPerson641
Remark"...we measured the expression change of the eY1H targets of DAF-19 by qRT-PCR in threefold embryos of daf-19(m86);daf-12(sa204) animals compared to daf-12(sa204) animals (the daf-12 mutation suppresses the dauer-constitutive phenotype of daf-19 mutants) (Senti & Swoboda, 2008). We confirmed that all previously reported DAF-19 targets are down regulated in daf-19 mutant animals (Fig 5B)."; "Values were normalized to the expression in the daf-12(sa204) strain..."; "We also detected significant downregulation for nine genes that were missed in the previous study (Phirke et al, 2011). Interestingly, these include three genes (F11E6.3, fbxb-69, and Y22D7AL.16) that do not harbor DAF-19 motifs in their promoters."Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
Table 3, Figure 5; concerns the genes che-2, osm-1, osm-6, xbx-1, which are all directly regulated by DAF-19; tested only for the m86 allelePaper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
Phenotype_assayGenotypedaf-19(m86); daf-12(sa204)Paper_evidenceWBPaper00050371
Curator_confirmedWBPerson712
WBPhenotype:0000249Paper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
WBPhenotype:0000255Paper_evidenceWBPaper00035071
Curator_confirmedWBPerson712
RemarkMutants lack all ciliated structures. This phenotype can be rescued by expression of daf-19c, the CSN-specific isoform of daf-19 through functional rescue in single sensory cilia (FRISSC), which can restore gene function in a cell-autonomous and cell-specific manner.Paper_evidenceWBPaper00035071
Curator_confirmedWBPerson712
WBPhenotype:0000306Paper_evidenceWBPaper00037652
Curator_confirmedWBPerson712
RemarkThe daf-19(m86) null allele abolishes osm-9 expression in PKD and all core neurons.Paper_evidenceWBPaper00037652
Curator_confirmedWBPerson712
WBPhenotype:0000310Paper_evidenceWBPaper00035071
WBPaper00039866
WBPaper00004071
WBPaper00003977
Curator_confirmedWBPerson712
WBPerson641
RemarkMutants lack all ciliated structures. This phenotype can be rescued by expression of daf-19c, the CSN-specific isoform of daf-19 through functional rescue in single sensory cilia (FRISSC), which can restore gene function in a cell-autonomous and cell-specific manner.Paper_evidenceWBPaper00035071
Curator_confirmedWBPerson712
Cilia but not ciliary rootlets missing from sensory neurons.Paper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
Table 2, Figure 1Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
WBPhenotype:0000421Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
RemarkFigure 5Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
WBPhenotype:0000505Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
RemarkNo FITC staining of ray sensilla.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000625Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
Remarkdown-regulation of synaptic vesicle proteins SNB-1, UNC-17, UNC-64 (Table 1)Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
WBPhenotype:0000843Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
RemarkMating efficiency 0, no detected matings.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
Phenotype_assayGenotypehim-5(e1490)Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000882Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
RemarkTable 2, Figure 1; concerns neuron PQR - dendrites may be too long (low penetrance)Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
EQ_annotationsAnatomy_termWBbt:0004096PATO:0000460Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
GO_termGO:0030425PATO:0000460Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
WBPhenotype:0001084Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
RemarkDoes not respond to dilute gradient of NaCl.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0001434Paper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
Remarkdefective chemotaxisPaper_evidenceWBPaper00004071
Curator_confirmedWBPerson712
WBPhenotype:0001639Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
RemarkFigure 4Paper_evidenceWBPaper00032252
Curator_confirmedWBPerson641
WBPhenotype:0001765Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
RemarkAcute CO2 avoidance is reducedPaper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
Phenotype_assayTreatment10% CO2Paper_evidenceWBPaper00031936
Curator_confirmedWBPerson2021
WBPhenotype:0001818Paper_evidenceWBPaper00035071
Curator_confirmedWBPerson712
RemarkMutants exhibited altered calcium transients in response to NaCl down-steps compared to control animals.Paper_evidenceWBPaper00035071
Curator_confirmedWBPerson712
WBPhenotype:0002053Paper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
Remarksurvive 10nM ivermectinPaper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
Affected_byMoleculeWBMol:00002786Paper_evidenceWBPaper00055368
Curator_confirmedWBPerson466
WBPhenotype:0002535Paper_evidenceWBPaper00000932
WBPaper00037652
Curator_confirmedWBPerson712
RemarkAmphids and phasmids rarely if ever stain with FITC at permissive or non-permissive temperatures.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005391PATO:0000460Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBbt:0005425PATO:0000460Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Phenotype_assayTemperature15C, 25CPaper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000039Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
RemarkAdult lifespan was not increased. Animals were allowed to progress through development at 15 degrees C. then shifted to 25.5 degrees C. to determine lifespan.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAnimals were raised at 15C and placed at 25.5C as L4 larvae or young adults for the life span assay.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
Temperature25.5CPaper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000315Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00035062
Curator_confirmedWBPerson2021
RemarkIn daf-19(m86) mutants, HYLS-1 localization was unaffectedPaper_evidenceWBPaper00035062
Curator_confirmedWBPerson2021
WBPhenotype:0000478Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000882Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
RemarkTable 2, Figure1; concerns the microvilli at the dendritic tips of the thermosensory AFD neuronsPaper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
EQ_annotationsAnatomy_termWBbt:0005662PATO:0000460Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
GO_termGO:0005902PATO:0000460Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
GO:0030425PATO:0000460Paper_evidenceWBPaper00003977
Curator_confirmedWBPerson641
WBPhenotype:0001530Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkCEP does not stain with FITC at permissive or non-permissive temperatures.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005107PATO:0000460Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Phenotype_assayTemperature15C, 25CPaper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
WBPhenotype:0001535Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
RemarkNo FITC staining of ADE or PDE.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Reference (24)
Remark
MethodSubstitution_allele