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WormBase Tree Display for Variation: WBVar00088536

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Name Class

WBVar00088536EvidencePaper_evidenceWBPaper00004181
NamePublic_namem20
Other_name (15)
HGVSgCHROMOSOME_X:g.10661711G>A
Sequence_detailsSMapS_parentSequenceF11A1
Flanking_sequencesatgcttcacagttggtatgaaaaaagagtgattttaaacgaagaacaactgcggcggagg
Mapping_targetF11A1
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00004181
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00006154
WBStrain00006224
WBStrain00006356
LaboratoryDR
StatusLive
AffectsGeneWBGene00000908
TranscriptF11A1.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3b.1:c.384G>A
HGVSpCE27585:p.Trp128Ter
cDNA_position384
CDS_position384
Protein_position128
Exon_number4/15
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3e.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.2:c.384G>A
HGVSpCE54230:p.Trp128Ter
cDNA_position812
CDS_position384
Protein_position128
Exon_number6/19
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.1:c.384G>A
HGVSpCE54230:p.Trp128Ter
cDNA_position592
CDS_position384
Protein_position128
Exon_number7/20
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3e.4VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.4:c.384G>A
HGVSpCE54230:p.Trp128Ter
cDNA_position545
CDS_position384
Protein_position128
Exon_number6/19
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3f.1:c.459G>A
HGVSpCE54221:p.Trp153Ter
cDNA_position600
CDS_position459
Protein_position153
Exon_number6/18
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3a.1:c.561G>A
HGVSpCE27584:p.Trp187Ter
cDNA_position561
CDS_position561
Protein_position187
Exon_number6/18
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3g.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3g.1:c.561G>A
HGVSpCE54229:p.Trp187Ter
cDNA_position592
CDS_position561
Protein_position187
Exon_number7/19
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3e.3VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.3:c.384G>A
HGVSpCE54230:p.Trp128Ter
cDNA_position770
CDS_position384
Protein_position128
Exon_number8/21
Codon_changetgG/tgA
Amino_acid_changeW/*
F11A1.3d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3d.1:c.459G>A
HGVSpCE39240:p.Trp153Ter
cDNA_position459
CDS_position459
Protein_position153
Exon_number5/16
Codon_changetgG/tgA
Amino_acid_changeW/*
Interactor (59)
GeneticsInterpolated_map_positionX2.36893
Mapping_dataIn_2_point432
In_multi_point (5)
DescriptionPhenotypeWBPhenotype:0000013Paper_evidenceWBPaper00000504
WBPaper00002149
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdefective dauer formationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000093Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarklineage defectsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000384Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
RemarkIn 37% of daf-12(m20) mutants ray neuron axons showed guidance defects while following commissures to the pre-anal ganglion (data not shown).Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006971PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
WBPhenotype:0000594Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkcell migration defectsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001085Paper_evidenceWBPaper00004310
Curator_confirmedWBPerson2021
RemarkAnimals exhibit severely reduced responses to butanonePaper_evidenceWBPaper00004310
Curator_confirmedWBPerson2021
Affected_byMoleculeWBMol:00005086Paper_evidenceWBPaper00004310
Curator_confirmedWBPerson2021
WBPhenotype:0001171Paper_evidenceWBPaper00002149
WBPaper00050052
Curator_confirmedWBPerson712
WBPerson5092
RemarkMean life span slightly shorter than N2 under same conditions. In control experiments, the life spans were nearly like that of wild type at 15.Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_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:0001414Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMating always successful (ME3) at the permissive temperature, mating never successful (ME0) at 25C.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001983Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
RemarkA high rate of leaving was obtained when the entire DIN-1 binding domain was deleted but the DBD remained intact. Hermaphrodites remained on food like wild-type hermaphrodites. | Unlike wild-type males, the leaving rate of daf-12(m20) males was not decreased by ablation of the gonad.Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000006Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkAll these animals retained a similar number of eggs when compared to wild-type animals (~10 eggs).Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentYoung well-fed animals were scoredPaper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
WBPhenotype:0000019Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkAnimals did not exhibit reduced pharyngeal pumping when compared with daf-7(e1375).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:0000061Paper_evidenceWBPaper00005086
Curator_confirmedWBPerson712
Phenotype_assayTemperature15CPaper_evidenceWBPaper00005086
Curator_confirmedWBPerson712
WBPhenotype:0000147Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
RemarkAfter a period of food deprivation, the leaving rate of daf-12(m20) males was decreased in a manner similar to wild type.Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
WBPhenotype:0000154Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
Phenotype_assayTemperature15C, 25CPaper_evidenceWBPaper00002149
Curator_confirmedWBPerson712
WBPhenotype:0000648Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
RemarkHomozygous males were fully retained by hermaphroditesfor all daf-12 alleles tested.Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
WBPhenotype: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:0001690Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
RemarkAnimals were positive for mAb M37 at the L1 stage but not at any other stage, similar to N2 animals.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
PenetranceLowPaper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
Phenotype_assayTemperature27.5Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
WBPhenotype:0001692Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
RemarkAnimals were induced by pheromone to display the L2 M37 epitope to the same extent as wildtype e.g. animals exhibit ILD.Paper_evidenceWBPaper00002589
Curator_confirmedWBPerson712
WBPhenotype:0001733Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
RemarkThe pumping rate of food-deprived, pheromone-untreated young-adult animals alone was reduced to the same basal level as wild-type; in addition, the pumping-rate of well-fed, pheromone-treated animals was suppressed as observed for wild-type.Paper_evidenceWBPaper00032082
Curator_confirmedWBPerson712
Phenotype_assayTreatmentPumping rates were assayed for well-fed , pheromone-untreated; food-deprived, pheromone-untreated; and well-fed, pheromone-treated animals. Acute pheromone treatment consisted of the 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:0002535Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
RemarkFITC uptake is normal.Paper_evidenceWBPaper00000932
Curator_confirmedWBPerson712
Reference (19)
MethodSubstitution_allele