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WormBase Tree Display for Variation: WBVar00143882

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Name Class

WBVar00143882NamePublic_namee1275
Other_nameCE31440:p.Arg175Ter
CE27833:p.Arg135Ter
C37F5.1b.1:c.403C>T
C37F5.1a.1:c.523C>T
HGVSgCHROMOSOME_IV:g.2278359G>A
Sequence_detailsSMapS_parentSequenceC37F5
Flanking_sequencesatgtgttatgtcaaagacgagaaggacattgacacgagattccgtcgtttatgacgtcat
Mapping_targetC37F5
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00002352
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004287
WBStrain00023477
WBStrain00027069
WBStrain00027143
WBStrain00027276
WBStrain00027384
LaboratoryCB
StatusLive
AffectsGeneWBGene00002990
TranscriptC37F5.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1a.1:c.523C>T
HGVSpCE31440:p.Arg175Ter
cDNA_position523
CDS_position523
Protein_position175
Exon_number4/7
Codon_changeCga/Tga
Amino_acid_changeR/*
C37F5.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1b.1:c.403C>T
HGVSpCE27833:p.Arg135Ter
cDNA_position411
CDS_position403
Protein_position135
Exon_number3/6
Codon_changeCga/Tga
Amino_acid_changeR/*
Interactor (20)
GeneticsInterpolated_map_positionIV-8.48144
Mapping_dataIn_2_point98
1642
1643
1646
In_multi_point (15)
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Remark53% of fertile animals (n=36) exhibited an egg laying defect.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAll strains were grown at 20C.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Genotypeunc-17(e113)Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
WBPhenotype:0000218Paper_evidenceWBPaper00026863
WBPaper00026707
WBPaper00005344
Curator_confirmedWBPerson712
WBPerson2987
RemarkOn average 4.25 VCPs (n=31 animals) are induced to adopt a vulval cell fate, which is increased compared to wild type (3/6 VPCs iinduced, n=29). VPCs and fate adoption were scored by Nomarski optics.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
3.8 (n=6)Paper_evidenceWBPaper00026707
Curator_confirmedWBPerson712
The lin-1(e1275) mutation resulted in more than the expected number of induced vulval precursor cells (4.1 on average instead of 3.0 in wild type)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00026863
WBPaper00005344
Curator_confirmedWBPerson712
WBPerson2987
EQ_annotationsAnatomy_termWBbt:0007809PATO:0000460Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Phenotype_assayTreatmentVulval induction was scored in late L3 to early L4 stage larvae, under Normarski optics. All strains were grown at 20C.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Vulval and P11.p phenotypes were scored in animals segregating from lin-1(e1275) unc-24/lin-1(e1275)+ mothers.Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Genotypeunc-17(e113)Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
unc-24(e138)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
WBPhenotype:0000688Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Remark12% animals produced progeny (n=41).Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAll strains were grown at 20C.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Genotypeunc-17(e113)Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
WBPhenotype:0000700Paper_evidenceWBPaper00000762
WBPaper00026863
WBPaper00036232
WBPaper00026707
WBPaper00005344
WBPaper00005255
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
WBPerson2987
Remark88% animals display one or more ectopic pseudovulvae (n=357).Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
weaker than e1777, slightly ts phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
100% of lin-1(e1275) animals have multiple vulvaPaper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Table 1Paper_evidenceWBPaper00005255
Curator_confirmedWBPerson2987
PenetranceIncomplete85% (n=337)Paper_evidenceWBPaper00026707
Curator_confirmedWBPerson712
62% penetrantPaper_evidenceWBPaper00005255
Curator_confirmedWBPerson2987
CompletePaper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00026863
WBPaper00005344
Curator_confirmedWBPerson712
WBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00000762
WBPaper00026863
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Phenotype_assayTreatmentAll strains were grown at 20C.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Vulval and P11.p phenotypes were scored in animals segregating from lin-1(e1275) unc-24/lin-1(e1275)+ mothers.Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Animals raised at 17.5 degrees CelsiusPaper_evidenceWBPaper00005255
Curator_confirmedWBPerson2987
Temperature20Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
17.5Paper_evidenceWBPaper00005255
Curator_confirmedWBPerson2987
Genotypeunc-17(e113)Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
unc-24(e138)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
WBPhenotype:0001414Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayGenotypehim-5(e1467)Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000054Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentLethality was scored in animals segregating from homozygous mothers.Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Genotypeunc-24(e138)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
WBPhenotype:0000099Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
RemarkThe lin-1(e1275) mutation did not result in any animals with the '0 P11.p' phenotype (P11 adopts a P12 fate) or the '2 P11.p' phenotype (P12 adopts a P11 fate)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentVulval and P11.p phenotypes were scored in animals segregating from lin-1(e1275) unc-24/lin-1(e1275)+ mothers.Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Genotypeunc-24(e138)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
WBPhenotype:0000698Paper_evidenceWBPaper00026863
WBPaper00005344
Curator_confirmedWBPerson712
WBPerson2987
Remark0% animals (n=31) are aberrant in induction of VPCs.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00026863
WBPaper00005344
Curator_confirmedWBPerson712
WBPerson2987
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Phenotype_assayTreatmentAll strains were grown at 20C.Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
Vulval and P11.p phenotypes were scored in animals segregating from lin-1(e1275) unc-24/lin-1(e1275)+ mothers.Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
Genotypeunc-17(e113)Paper_evidenceWBPaper00026863
Curator_confirmedWBPerson712
unc-24(e138)Paper_evidenceWBPaper00005344
Curator_confirmedWBPerson2987
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Reference (16)
MethodSubstitution_allele