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WormBase Tree Display for Variation: WBVar00088157

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Name Class

WBVar00088157EvidencePaper_evidenceWBPaper00005543
NamePublic_nameju82
Other_nameCE33391:p.Glu71Ter
F35D2.5a.1:c.211C>T
HGVSgCHROMOSOME_II:g.7591994G>A
Sequence_detailsSMapS_parentSequenceR07G3
Flanking_sequencesaccgcctcacgcagtcgcatgaatgccagtaaccgcctcccggtgagtctttgaattttt
Mapping_targetR07G3
Type_of_mutationSubstitutiongh
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005369
LaboratoryCZ
StatusLive
AffectsGeneWBGene00006363
TranscriptF35D2.5a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF35D2.5a.1:c.211C>T
HGVSpCE33391:p.Glu71Ter
cDNA_position215
CDS_position211
Protein_position71
Exon_number4/19
Codon_changeGaa/Taa
Amino_acid_changeE/*
InteractorWBInteraction000502715
WBInteraction000502837
WBInteraction000504813
WBInteraction000523867
WBInteraction000523870
WBInteraction000541722
GeneticsInterpolated_map_positionII0.504835
DescriptionPhenotypeWBPhenotype:0000545Paper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
RemarkDefects in the egg-laying behavior in syd-1 mutantsPaper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
WBPhenotype:0000566Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
RemarkThis allele was isolated in noncomplementation screens based on behavioural defects.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
RemarkBranch defects scored in PLM neuron.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
PenetranceLowPaper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
WBPhenotype:0000643Paper_evidenceWBPaper00045690
Curator_confirmedWBPerson712
RemarkBy gross movement, mutants show slow movement while maintaining a sinusoidal pattern.Paper_evidenceWBPaper00045690
Curator_confirmedWBPerson712
WBPhenotype:0000847Paper_evidenceWBPaper00032993
WBPaper00005543
Curator_confirmedWBPerson2021
WBPerson712
RemarkNumerous synaptic components (SNB-1, ELKS-1 and GIT-1) failed to localize to presynaptic sites in syd-1mutantsPaper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
SNB-1::GFP localization phenotypes are comparable to other ju2 and ju20 and to those of syd-1/Df animals, that is, there were fewer ventral SNB-1::GFP puncta in mutants than in wild-type animals, and they were slightly irregular in shape. In dorsal cords, the number of puncta was comparable to wild type; however the puncta shape were noticeably abnormal.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004758PATO:0000460Paper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
Phenotype_assayGenotypewyEx146 [Punc-86::git-1::yfp], wyEx196 [Punc-86::elks-1::yfp], kyIs235 [Punc-86::snb-1::yfp]Paper_evidenceWBPaper00032993
Curator_confirmedWBPerson2021
juIs1[Punc-25::SNB-1::GFP]Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0001321Paper_evidenceWBPaper00045690
Curator_confirmedWBPerson712
RemarkAnimals display distinctive alterations in presynaptic morphology, as visualized by the synaptic vesicle marker juIs1[Punc-25-SNB-1::GFP].Paper_evidenceWBPaper00045690
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000436Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
RemarkLocalization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS.Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
ReferenceWBPaper00028886
WBPaper00032993
WBPaper00005543
WBPaper00045690
WBPaper00045955
MethodSubstitution_allele