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WormBase Tree Display for Variation: WBVar00143000

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Name Class

WBVar00143000EvidencePaper_evidenceWBPaper00003350
NamePublic_namee156
Other_nameY37D8A.23a.1:c.1148G>A
Y37D8A.23c.1:c.923G>A
CE20226:p.Trp383Ter
Y37D8A.23b.1:c.1148G>A
CE32012:p.Trp308Ter
CE31832:p.Trp383Ter
HGVSgCHROMOSOME_III:g.12948395G>A
Sequence_detailsSMapS_parentSequenceY37D8A
Flanking_sequencesacaatgatgttttcaagctttggttgatgtgaagagcaagggaatggagggatatcgtca
Mapping_targetY37D8A
Type_of_mutationSubstitutionGAPaper_evidenceWBPaper00003350
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (22)
LaboratoryCB
OJ
StatusLive
AffectsGeneWBGene00006762
TranscriptY37D8A.23c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY37D8A.23c.1:c.923G>A
HGVSpCE32012:p.Trp308Ter
cDNA_position923
CDS_position923
Protein_position308
Exon_number4/6
Codon_changetGg/tAg
Amino_acid_changeW/*
Y37D8A.23b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY37D8A.23b.1:c.1148G>A
HGVSpCE31832:p.Trp383Ter
cDNA_position1148
CDS_position1148
Protein_position383
Exon_number6/9
Codon_changetGg/tAg
Amino_acid_changeW/*
Y37D8A.23a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY37D8A.23a.1:c.1148G>A
HGVSpCE20226:p.Trp383Ter
cDNA_position1158
CDS_position1148
Protein_position383
Exon_number7/10
Codon_changetGg/tAg
Amino_acid_changeW/*
InteractorWBInteraction000001428
WBInteraction000517365
WBInteraction000517573
WBInteraction000555296
WBInteraction000558065
WBInteraction000558066
GeneticsInterpolated_map_positionIII20.6631
Mapping_dataIn_2_point57
68
78
6019
6109
7009
7010
In_multi_point (32)
In_pos_neg_data354
DescriptionPhenotypeWBPhenotype:0000010Paper_evidenceWBPaper00036766
Curator_confirmedWBPerson712
Remarkunc-25 mutants were hypersensitive to fluoxetine in the paralysis assay.Paper_evidenceWBPaper00036766
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00005058Paper_evidenceWBPaper00036766
Curator_confirmedWBPerson712
WBPhenotype:0000016Paper_evidenceWBPaper00031872
WBPaper00035198
Curator_confirmedWBPerson712
Remark% animals paralyzed after 60 min on 1mM aldicarb was significantly higher than % N2 animals paralyzed.Paper_evidenceWBPaper00031872
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003650Paper_evidenceWBPaper00031872
WBPaper00035198
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007833PATO:0001549Paper_evidenceWBPaper00031872
WBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000180Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Remark148/549 adult animals showed defects as visualized by unc-47::GFP.Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004822PATO:0000460Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Phenotype_assayGenotypeoxIs12Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
WBPhenotype:0000229Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkslightly smallPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000273Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals exhibit reduced thrashing compared to wild-type animals; however, animals thrashed significantly more than unc-49(e407) mutants.Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000380Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Remark% of animals with expulsions was significantly decreased compared to wild-type at all temperatures.Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005803PATO:0000460Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 20, 25Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
WBPhenotype:0000402Paper_evidenceWBPaper00056338
Curator_confirmedWBPerson36360
WBPhenotype:0000420Paper_evidenceWBPaper00031872
Curator_confirmedWBPerson712
Remark% animals paralyzed after 60 min on 200mM levamisole was significantly higher than % N2 animals paralyzed under same conditions.Paper_evidenceWBPaper00031872
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004019Paper_evidenceWBPaper00031872
Curator_confirmedWBPerson712
WBPhenotype:0000552Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdeficient in GABAPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000563Paper_evidenceWBPaper00004889
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
Remarkshrinker, contracts both dorsally and ventrally when proddedPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Table IPaper_evidenceWBPaper00004889
Curator_confirmedWBPerson2987
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000604Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksome neuroanatomical defects (D motorneurons)Person_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005409PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
WBPaper00055158
Curator_confirmedWBPerson712
WBPerson8908
RemarkAnimals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Pentylenetetrazol-induced convulsions seen with these allelesPaper_evidenceWBPaper00055158
Curator_confirmedWBPerson8908
PenetranceIncompletePaper_evidenceWBPaper00055158
Curator_confirmedWBPerson8908
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
WBPaper00055158
Curator_confirmedWBPerson712
WBPerson8908
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00055158
Curator_confirmedWBPerson8908
WBPhenotype:0000643Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000662Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkFabPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000664Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000996Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkExp defect in defecationPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001005Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkpoor backingPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001265Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
RemarkIn free locomotion, head swing is irregular, and the irregularity increases remarkably with aging (Fig. 3 and Fig. 8D).Paper_evidenceWBPaper00042154
Curator_confirmedWBPerson1455
WBPhenotype:0001524Paper_evidenceWBPaper00045634
Curator_confirmedWBPerson13849
Remarkdecreased total quiescencePaper_evidenceWBPaper00045634
Curator_confirmedWBPerson13849
WBPhenotype:0002159Paper_evidenceWBPaper00056338
Curator_confirmedWBPerson36360
WBPhenotype:0002490Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Remark148/549 adult animals showed defects as visualized by unc-47::GFP.Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004822PATO:0000460Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Phenotype_assayGenotypeoxIs12Paper_evidenceWBPaper00006029
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable S2Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
Disease_infoModels_diseaseDOID:1826
Models_disease_in_annotationWBDOannot00000549
Reference (23)
MethodSubstitution_allele