Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00241522

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00241522EvidencePaper_evidenceWBPaper00004181
NamePublic_namerh61
Other_name (17)
HGVSgCHROMOSOME_X:g.10664843C>T
Sequence_detailsSMapS_parentSequenceF11A1
Flanking_sequencesaactctttcaagacaccaacaattaaggggaaaacgtttccgtcaacgtggatgatatgt
Mapping_targetF11A1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00004181
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (11)
LaboratoryNJ
StatusLive
Linked_toWBVar00241523
WBVar00241524
WBVar00604100
AffectsGeneWBGene00000908
TranscriptF11A1.3b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3b.1:c.1675C>T
HGVSpCE27585:p.Gln559Ter
cDNA_position1675
CDS_position1675
Protein_position559
Exon_number12/15
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3e.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.2:c.1627C>T
HGVSpCE54230:p.Gln543Ter
cDNA_position2055
CDS_position1627
Protein_position543
Exon_number15/19
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.1:c.1627C>T
HGVSpCE54230:p.Gln543Ter
cDNA_position1835
CDS_position1627
Protein_position543
Exon_number16/20
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3c.1:c.394C>T
HGVSpCE27586:p.Gln132Ter
cDNA_position394
CDS_position394
Protein_position132
Exon_number2/6
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3e.4VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.4:c.1627C>T
HGVSpCE54230:p.Gln543Ter
cDNA_position1788
CDS_position1627
Protein_position543
Exon_number15/19
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3f.1:c.1702C>T
HGVSpCE54221:p.Gln568Ter
cDNA_position1843
CDS_position1702
Protein_position568
Exon_number15/18
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3a.1:c.1852C>T
HGVSpCE27584:p.Gln618Ter
cDNA_position1852
CDS_position1852
Protein_position618
Exon_number14/18
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3g.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3g.1:c.1804C>T
HGVSpCE54229:p.Gln602Ter
cDNA_position1835
CDS_position1804
Protein_position602
Exon_number16/19
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3e.3VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3e.3:c.1627C>T
HGVSpCE54230:p.Gln543Ter
cDNA_position2013
CDS_position1627
Protein_position543
Exon_number17/21
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F11A1.3d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF11A1.3d.1:c.1750C>T
HGVSpCE39240:p.Gln584Ter
cDNA_position1750
CDS_position1750
Protein_position584
Exon_number13/16
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (25)
GeneticsInterpolated_map_positionX2.36911
DescriptionPhenotypeWBPhenotype:0000013Paper_evidenceWBPaper00027611
WBPaper00024451
Curator_confirmedWBPerson712
WBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
PenetranceComplete100Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsLife_stageWBls:0000032PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO_termGO:0040024PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Phenotype_assayTemperature20Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000033Paper_evidenceWBPaper00027611
WBPaper00024451
Curator_confirmedWBPerson712
WBPerson2987
RemarkAnimals exhibit strong heterochronic defects including reiteration of L2 seam cell divisions at the L3 stage and reiteration of the L3 gonadal migration program at the L4 stage.Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
daf-12(rh61) mutants fail to execute L3 seam cell divisions on schedule and instead inappropriately repeat earlier larval programs (Fig. 3B; Table 1). Seam cells repeat L2 programs of proliferative division at the L3 stage.Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
PenetranceHigh90Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005753PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Life_stageWBls:0000035PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO_termGO:0048505PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000135Paper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
RemarkIn daf-12(rh61) mutant larvae the hbl-1 reporter fails to be down regulated in the L3 stagePaper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
WBPhenotype:0000154Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0060378PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000280Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Remarkdaf-12(rh61) mutants fail to execute adult cuticle programs on schedule and instead inappropriately repeat earlier larval programs (Fig. 3B,D; Table 1). L4 programs of stem cell division at the adult stage giving rise to gaps in adult alae, indicated by a break in the three lines.Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
PenetranceIncomplete20Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005753PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Life_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO_termGO:0048505PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO:0042335PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000301Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
Remarkdaf-12(rh61) mutants fail to execute gonadal cell migrations (Mig phenotype) on schedule and instead inappropriately repeat earlier larval programs (Fig. 3F; Table 1).Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
PenetranceComplete100Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006865PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
GO:0008406PATO:0000460Paper_evidenceWBPaper00024451
Curator_confirmedWBPerson2987
WBPhenotype:0000964Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00000896Paper_evidenceWBPaper00027611
Curator_confirmedWBPerson712
WBPhenotype:0001779Paper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
Remarkdaf-12(rh61) mutant larvae display a dramatic reduction in several let-7-Fam miRNAs (12- to 30-fold reduction in miR-795, miR-48, miR-241, and let-7)Paper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
WBPhenotype:0001983Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
RemarkWhen the LBD was deleted up to the DIN-1 binding region, but leaving the DIN-1 binding region intact, the rate of leaving was slower than in the presumptive null background.Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00032266
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000306Paper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
RemarkLIN-28::GFP transgene is downregulated normally during the second larval stage in daf-12 mutantsPaper_evidenceWBPaper00035307
Curator_confirmedWBPerson2021
ReferenceWBPaper00024451
WBPaper00035307
WBPaper00027611
WBPaper00032266
WBPaper00025790
WBPaper00017778
WBPaper00011341
MethodSubstitution_allele