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WormBase Tree Display for Variation: WBVar00091701

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Name Class

WBVar00091701NamePublic_nameok406
Other_nameC34G6.7a.1:c.307-41_1328del
C34G6.7a.2:c.307-41_1328del
HGVSgCHROMOSOME_I:g.5902308_5903684del
Sequence_detailsSMapS_parentSequenceC34G6
Flanking_sequencestgtgaagacggagcaggccattgttgttgcggtgaaatgtatcgtattttcgtattatac
Mapping_targetC34G6
Type_of_mutationDeletion
PCR_productOK406_external
OK406_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031413
LaboratoryRB
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00004109
TranscriptC34G6.7a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScC34G6.7a.1:c.307-41_1328del
cDNA_position?-1384
CDS_position?-1328
Protein_position?-443
Intron_number4-7/8
Exon_number5-8/9
C34G6.7b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number3-5/5
Exon_number4-6/6
C34G6.7a.2VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScC34G6.7a.2:c.307-41_1328del
cDNA_position?-1378
CDS_position?-1328
Protein_position?-443
Intron_number4-7/8
Exon_number5-8/9
InteractorWBInteraction000502402
WBInteraction000502943
WBInteraction000502944
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
RemarkAnimals lacking STAM exhibit a high level of embryonic lethality; however, 10% are viable and grow to adulthood.Paper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
WBPhenotype:0000106Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
RemarkMutant hermaphrodites exhibit an expanded pattern of MAPK activation in which MAPKYT staining extends to distal oocytesPaper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006797PATO:0000460Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentAntibody staining to the diphosphorylated activated form of MAPK (MAPK-YT)Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
WBPhenotype:0000120Paper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
RemarkIn the absence of STAM, Hrs protein levels were reduced roughly 2-fold.Paper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00040092
Curator_confirmedWBPerson712
WBPhenotype:0000274Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Remarkstam-1(ok406) hermaphrodites produce greater than 80% unfertilized and dead eggs.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000313Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
RemarkHermaphrodites exhibited an incompletely penetrant delay in nuclear envelope breakdown during oocyte meiotic maturationPaper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006797PATO:0000460Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00027739
Curator_confirmedWBPerson2021
WBPhenotype:0000357Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Remarkstam-1(ok406) hermaphrodites produce greater than 80% unfertilized and dead eggs.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkLOV-1::GFP and PKD-2::GFP localize normally to the cilium proper of CEM neurons; however, both LOV-1::GFP and PKD-2::GFP accumulate at the ciliary base and are often observed in discrete puncta in the ciliary base region. In RnB neurons of stam-1 mutant males, many PKD-2::GFP-labeled puncta accumulate along the distal dendrite.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Ubi-PKD-2::GFP localizes to the ciliary bases of CEM and RnB neurons in the stam-1 mutant. In the stam-1 mutant, fluorescence intensity values for Ubi-PKD-2::GFP at the ciliary base increased 10-fold compared with a wild-type background. In RnB neurons, Ubi-PKD-2::GFP puncta are also observed in the distal dendrite. | In stam-1 animals, PKD(S534D)::GFP localizes to the ciliary base, and the fluorescence intensity ratios for PKD-2(S534D)::GFP increase about five-fold. Strikingly, wild-type PKD-2::GFP, Ubi-PKD-2::GFP, and PKD-2(S534D)::GFP accumulate at the stam-1(ok406) ciliary base in a similar pattern.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005246PATO:0000460Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBbt:0006973PATO:0000460Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Remarkstam-1(ok406) hermaphrodites produce greater than 80% unfertilized and dead eggs.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0004030Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Remarkstam-1(ok406) adult males exhibit a slight, but statistically significant defect in the response step of mating behavior.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000643Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkEscapers exhibit normal locomotion.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000659Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkEscapers exhibit normal feeding.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000717Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Remarkhgrs-1 levels are normal in the stam-1 mutant background (data not shown).Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0000853Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkPKD-2 dendritic motility is intact.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0001072Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkEscapers exhibit normal food sensation.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0001816Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkEscapers exhibit normal egg laying behavior.Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
WBPhenotype:0002535Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
RemarkSensory cilia of stam-1 mutants are intact as judged by fluorescent dye filling of amphid and phasmid neurons (data not shown).Paper_evidenceWBPaper00030801
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:0080322
Models_disease_in_annotationWBDOannot00000002
ReferenceWBPaper00040092
WBPaper00027739
WBPaper00030801
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele