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WormBase Tree Display for Variation: WBVar00089918

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Name Class

WBVar00089918EvidencePaper_evidenceWBPaper00001667
NamePublic_namen1045
Other_nameZK1067.1d.1:c.3731-1G>A
ZK1067.1b.1:c.3512-1G>A
ZK1067.1c.1:c.3710-1G>A
ZK1067.1a.1:c.3695-1G>A
HGVSgCHROMOSOME_II:g.9206342G>A
Sequence_detailsSMapS_parentSequenceZK1067
Flanking_sequencestttcaatttttataattattttgcattttaatgggtcaaccgcacaggaagataattcat
Mapping_targetZK1067
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00001667
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00026931
WBStrain00027026
WBStrain00033485
LaboratoryMT
StatusLive
AffectsGeneWBGene00002299
TranscriptZK1067.1d.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1d.1:c.3731-1G>A
Intron_number18/20
ZK1067.1b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1b.1:c.3512-1G>A
Intron_number14/15
ZK1067.1c.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1c.1:c.3710-1G>A
Intron_number16/18
ZK1067.1a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1a.1:c.3695-1G>A
Intron_number17/19
Interactor (141)
GeneticsInterpolated_map_positionII1.09464
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Remarkvulva is intact in Egl animalsPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayTemperature20, 25Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000062Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Phenotype_assayTemperature20Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000081Paper_evidenceWBPaper00032309
Curator_confirmedWBPerson712
RemarkAnimals without maternal contribution arrest as L1 larva.Paper_evidenceWBPaper00032309
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00032309
Curator_confirmedWBPerson712
Maternal
WBPhenotype:0000218Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RemarkUnlike the Muv phenotype, the Hin phenotype requires the presence of the anchor cell, suggesting the VPCs are hypersensitive to the anchor cell signal.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000411Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceIncomplete51 percent of n1045 mutants are lethal at 20 C, whereas only 28 percent are lethal at 25 CPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Range4949Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000023PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveCold_sensitive15Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayTemperature15Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000414Paper_evidenceWBPaper00001404
WBPaper00040420
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkAnimals have 91% wild-type P12 as homozygotes. Animals exhibit low levels of P12-P11 cell transformations when in trans to other let-23 alleles. The effects of this mutation can be slightly alleviated by maternal gene activity; however the maternal rescue is not nearly as great as seen for sy97 or sy12 mutants.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Mutation alters FLP neuron fate to a TRN-like fate.Paper_evidenceWBPaper00040420
Curator_confirmedWBPerson712
P12 transformed to P11 fatePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00001404
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006828PATO:0000460Paper_evidenceWBPaper00040420
Curator_confirmedWBPerson712
WBPhenotype:0000443Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RemarkSpicules exhibited various defects. n1945 exhibits intragenic complementation with other let-23 alleles with regards to this phenotype.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005312PATO:0000460Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Phenotype_assayTemperature20Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000698Paper_evidenceWBPaper00000762
WBPaper00001404
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Remark86 percent of the Vul hermaphrodites have 1 or more ventral protrusions at 20 C and 25 C. The penetrance of the Vul phenotype decreases in n1045 hermaphrodites that do not pass through dauer stage but have been starved before reaching adulthoodPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Vul at 15CPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncompleteThe penetrance of Vul hermaphrodites drops to 14 and 2 percent at 20 C and 25 C respectivelyPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
44% (n=42)Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Range5050Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
WBPaper00001404
Curator_confirmedWBPerson2021
WBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveCold_sensitive15Paper_evidenceWBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Phenotype_assayTemperature15Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000700Paper_evidenceWBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Remarkweak Muv (hyperinduced) at 25CPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceLowPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayTemperature20, 25Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000843Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Remarkmale mating efficiency is reduced to 19 percent (compared to him-5 controls)Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceHighThe mating efficiency of n1045 males drops to 19 percent (compared to him-5 control males)Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayGenotypehim-5(e1467)Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkhomozygous viablePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Reference (19)
MethodSubstitution_allele