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WormBase Tree Display for Variation: WBVar00248884

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Name Class

WBVar00248884EvidencePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
NamePublic_namesy1
Other_nameCE03840:p.Gln1318Ter
ZK1067.1a.1:c.3952C>T
ZK1067.1d.1:c.3988C>T
CE50411:p.Gln1330Ter
CE42910:p.Gln1323Ter
CE42891:p.Gln1257Ter
ZK1067.1c.1:c.3967C>T
ZK1067.1b.1:c.3769C>T
HGVSgCHROMOSOME_II:g.9206918C>T
Sequence_detailsSMapS_parentSequenceZK1067
Flanking_sequencesgcagttcaatatgaaaatgaagaagtatcaaaaaggaaacttgtctttaacttttcgaac
Mapping_targetZK1067
Type_of_mutationSubstitutionCT
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00030806
WBStrain00030807
WBStrain00030808
WBStrain00030820
WBStrain00030836
Component_of_genotypeWBGenotype00000109
WBGenotype00000110
WBGenotype00000111
WBGenotype00000112
WBGenotype00000113
WBGenotype00000114
LaboratoryPS
AuthorSternberg P
Aroian R
StatusLive
AffectsGeneWBGene00002299
TranscriptZK1067.1d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK1067.1d.1:c.3988C>T
HGVSpCE50411:p.Gln1330Ter
cDNA_position3994
CDS_position3988
Protein_position1330
Exon_number20/21
Codon_changeCaa/Taa
Amino_acid_changeQ/*
ZK1067.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK1067.1b.1:c.3769C>T
HGVSpCE42891:p.Gln1257Ter
cDNA_position3769
CDS_position3769
Protein_position1257
Exon_number16/16
Codon_changeCaa/Taa
Amino_acid_changeQ/*
ZK1067.1c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK1067.1c.1:c.3967C>T
HGVSpCE42910:p.Gln1323Ter
cDNA_position3967
CDS_position3967
Protein_position1323
Exon_number18/19
Codon_changeCaa/Taa
Amino_acid_changeQ/*
ZK1067.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZK1067.1a.1:c.3952C>T
HGVSpCE03840:p.Gln1318Ter
cDNA_position4041
CDS_position3952
Protein_position1318
Exon_number19/20
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (13)
IsolationMutagenEMS
Forward_geneticsF2 standard screen for non-Muv
GeneticsInterpolated_map_positionII1.09466
Mapping_dataIn_multi_point3220
3221
3222
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00001404
WBPaper00002375
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
WBPerson712
RemarkDisplays intragenic complementation with sy97 for this phenotype, i.e., 53% of sy1/sy97 animals are not Egl.Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
PenetranceIncompleteOnly 8% of animals are not Egl.Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
WBPhenotype:0000219Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GO_termGO:0001708PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
WBPhenotype:0000640Paper_evidenceWBPaper00002811
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00002811
Curator_confirmedWBPerson712
WBPhenotype:0000698Paper_evidenceWBPaper00001404
WBPaper00002375
WBPaper00045219
WBPaper00005277
Person_evidenceWBPerson625
WBPerson261
Curator_confirmedWBPerson48
WBPerson712
WBPerson2987
RemarkPhenotype is not suppressed by sy322.Paper_evidenceWBPaper00002375
Curator_confirmedWBPerson712
LET-23::GFP efficiently rescued the let-23(sy1) vulvaless (Vul) phenotypePaper_evidenceWBPaper00045219
Curator_confirmedWBPerson712
Figure 1BPaper_evidenceWBPaper00005277
Curator_confirmedWBPerson2987
PenetranceIncomplete14% (n=30).Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
Rescued_by_transgeneWBTransgene00020283
WBTransgene00019945
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
Phenotype_assayTreatmentscored by NormarskiPaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson48
WBPhenotype:0001278Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
Remark"Therefore, we introduced deIs1 and deIs4 into a strain containing let-23(sy1),a loss-of-function mutation for the LET-23 receptor tyrosine kinase that compromises Ras signaling in the VPCs (Aroian and Sternberg, 1991). We analyzed the levels of GFP expression in P5.p-P8.p before and after vulval induction in let-23(sy1); deIs4 and let-23(sy1); deIs1 animals and observed no significant (P < 0.01) upregulation in P6.p after vulval induction (Figs. 5B and 6B and data not shown). Therefore, the transcriptional upregulation of lin-39 in P6.p is dependent on Ras signaling."Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006894PATO:0000460Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
Phenotype_assayGenotypedeIs1 [lin-39::GFP]Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
deIs4 [lin-39::GFP]Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00001404
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkviablePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000414Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RemarkAnimals have 100% wild-type P12 as homozygotes. Animals exhibit low levels of P12-P11 cell transformations when in trans to other let-23 alleles.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000443Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0001278Paper_evidenceWBPaper00057074
Curator_confirmedWBPerson712
Remarkneurons did not show a loss in unc-25::GFP expressionPaper_evidenceWBPaper00057074
Curator_confirmedWBPerson712
ImageWBPicture0000014913Paper_evidenceWBPaper00057074
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005027PATO:0000460Paper_evidenceWBPaper00057074
Curator_confirmedWBPerson712
WBbt:0005021PATO:0000460Paper_evidenceWBPaper00057074
Curator_confirmedWBPerson712
Reference (32)
RemarkIsolated as suppressor of the Multivulva phenotype of lin-15(n309) in 1987Person_evidenceWBPerson625
WBPerson26
MethodSubstitution_allele