Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00088136

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00088136NamePublic_nameju2
Other_nameF35D2.5a.1:c.1471C>T
CE33391:p.Arg491Ter
F35D2.5c.2:c.673C>T
F35D2.5c.1:c.673C>T
CE33392:p.Arg225Ter
HGVSgCHROMOSOME_II:g.7588281G>A
Sequence_detailsSMapS_parentSequenceR07G3
Flanking_sequencestaaacttttttgttttcagagcaacaatttgattgtctaatggaagtccgggaagaactg
Mapping_targetR07G3
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00005543
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCZ
StatusLive
AffectsGeneWBGene00006363
TranscriptF35D2.5c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF35D2.5c.1:c.673C>T
HGVSpCE33392:p.Arg225Ter
cDNA_position676
CDS_position673
Protein_position225
Exon_number6/11
Codon_changeCga/Tga
Amino_acid_changeR/*
F35D2.5a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF35D2.5a.1:c.1471C>T
HGVSpCE33391:p.Arg491Ter
cDNA_position1475
CDS_position1471
Protein_position491
Exon_number14/19
Codon_changeCga/Tga
Amino_acid_changeR/*
F35D2.5c.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF35D2.5c.2:c.673C>T
HGVSpCE33392:p.Arg225Ter
cDNA_position1249
CDS_position673
Protein_position225
Exon_number11/16
Codon_changeCga/Tga
Amino_acid_changeR/*
Interactor (20)
IsolationMutagenEMSPaper_evidenceWBPaper00005543
GeneticsInterpolated_map_positionII0.504799
Mapping_dataIn_multi_point4715
DescriptionPhenotypeWBPhenotype:0000566Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Remarksyd-1 mutant animals coiled ventrally when they moved backwards.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0000847Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
RemarkThere 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. | In syd-1 mutants, only 3-7 SNB::GFP puncta in ASI axons were observed and distinct SNB::GFP puncta in dendritic regions were detected.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBbt:0005300PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBbt:0006750PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Phenotype_assayGenotypejuIs1[Punc-25::SNB-1::GFP]Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0000905Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
RemarkThe overall morphology of DDs and VDs was normal; however, mild abnormalities in ASI were observed, where a single process first emerged from the cell bodies and later branched to form an axon and dendrite, and the axon extended farther posteriorly before looping into the nerve ring.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0001801Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Remarksyd-1 affects the polarity of ASI neurons.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0002232Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
RemarkPolarity of L1 DDs is disrupted in the same way as in the adult VDs in syd-1 mutants; however despite initial polarity defects in juvenile DDs, the polarity of adult DDs seems normal in syd-1 mutants.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Variation_effectLoss_of_function_undetermined_extentPaper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBls:0000041PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000944Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
RemarkLoss of syd-1 function causes morphologically normal axonal specializations to form in the dendritic processes of VDs, based on ultrastructural analysis of VD dorsal process presynaptic specializations and placement of postsynaptic muscle arm membranes.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBPhenotype:0002262Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
Remarkpostsynaptic localization of an AMPA-type glutamate receptor marker, GLR-1::GFP was unaltered.Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00005543
Curator_confirmedWBPerson712
ReferenceWBPaper00005543
RemarkFlanking sequences refer to F35D2.5c isoformCurator_confirmedWBPerson1845
MethodSubstitution_allele