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WormBase Tree Display for Variation: WBVar00089674

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Name Class

WBVar00089674EvidencePaper_evidenceWBPaper00002466
NamePublic_namen686
Other_nameM01D7.7b.1:c.438-1G>A
M01D7.7a.1:c.594-1G>A
HGVSgCHROMOSOME_I:g.1839250G>A
Sequence_detailsSMapS_parentSequenceM01D7
Flanking_sequencescattcaaaaaacggaaaattgtgttttccaaatggtggacgtcggaggtcagcgatcaga
Mapping_targetM01D7
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00002466
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022472
WBStrain00026844
LaboratoryMT
StatusLive
AffectsGeneWBGene00001196
TranscriptM01D7.7b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScM01D7.7b.1:c.438-1G>A
Intron_number4/8
M01D7.7a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScM01D7.7a.1:c.594-1G>A
Intron_number5/9
InteractorWBInteraction000503446
WBInteraction000517563
WBInteraction000517571
WBInteraction000518669
WBInteraction000520751
WBInteraction000524573
WBInteraction000542452
GeneticsInterpolated_map_positionI-12.5532
Mapping_dataIn_2_point736
In_multi_point634
In_pos_neg_data3968
3976
3986
3994
4003
4087
6277
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00031438
WBPaper00002305
Curator_confirmedWBPerson2369
WBPerson557
Semi_dominantPaper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000007Paper_evidenceWBPaper00000914
Curator_confirmedWBPerson48
PenetranceIncompletePaper_evidenceWBPaper00000914
Curator_confirmedWBPerson48
WBPhenotype:0000022Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000031Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000070Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkslight morpho-MabPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000153Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000205Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
Semi_dominantPaper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000229Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000349Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMuscle activation defective (flaccid, long).Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000481Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
Remarkegl-30(n686) mutants were defective in the avoidance response to high osmotic strength (1 molar glycerol) compared to wild type controls (Figure 2a).Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
egl-30(n686) mutants were defective in the avoidance response to 10 millimolar quinine, compared to wild type controls (Figure 2a).Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00020540
Affected_byMoleculeWBMol:00003633Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
WBMol:00003904Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
WBPhenotype:0000545Paper_evidenceWBPaper00000914
WBPaper00000635
WBPaper00050796
Curator_confirmedWBPerson48
WBPerson2987
RemarkFigure 5APaper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
Semi_dominantPaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
EQ_annotationsGO_termGO:0018991PATO:0000460Paper_evidenceWBPaper00050796
Curator_confirmedWBPerson2987
WBPhenotype:0000631Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkvariable drug responsePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000644Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
RemarkFlaccid paralysis.Paper_evidenceWBPaper00002305
Curator_confirmedWBPerson557
WBPhenotype:0000646Paper_evidenceWBPaper00000914
WBPaper00000635
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
RemarkUnc slow, very sluggish phenotype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Semi_dominantPaper_evidenceWBPaper00000914
Curator_confirmedWBPerson48
WBPhenotype:0000795Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Remark"Reduction-of-function mutation of egl-30 led to an increase in flipping rate during lethargus and also showed prominent flipping outside of lethargus (figure 6B)"Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Phenotype_assayStrainWBStrain00026844Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
Control_strainWBStrain00000001Paper_evidenceWBPaper00050847
Curator_confirmedWBPerson38423
WBPhenotype:0000862Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkModerate bloating. Easy to score (ES3) in adult, difficult to score (ES2) at other stages.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001068Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
PenetranceIncompletevariablePaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
Phenotype_assayTreatment5 mg/ml serotoninPaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0001340Paper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
PenetranceIncompletevariablePaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
Phenotype_assayTreatment0.75 mg/ml imipraminePaper_evidenceWBPaper00000635
Curator_confirmedWBPerson48
WBPhenotype:0001785Paper_evidenceWBPaper00054194
Curator_confirmedWBPerson28904
WBPhenotype:0002199Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
Remarkegl-30(n686) mutants exhibited reduced (but not abolished) calcium transients in ASH neurons in response to high osmolarity (1M glycerol) (Figure 4a).Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003633Paper_evidenceWBPaper00037778
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000436Paper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
RemarkMutations in egl-30 did not cause SNB-1::VENUS localization defects.Paper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
ReferenceWBPaper00040857
WBPaper00000635
WBPaper00015719
WBPaper00015453
WBPaper00037778
WBPaper00002466
WBPaper00000914
WBPaper00031438
WBPaper00050796
WBPaper00050847
WBPaper00054194
WBPaper00002305
WBPaper00061175
WBPaper00065340
WBPaper00065992
RemarkCreated by WBPerson51134 from the NN_VFP_triage_pipeline
Variation stub/paper connection generated from the May 2021 NN VFP dataset.
MethodSubstitution_allele