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WormBase Tree Display for Variation: WBVar00143389

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Name Class

WBVar00143389EvidencePerson_evidenceWBPerson201
NamePublic_namee669
Other_name (22)
HGVSgCHROMOSOME_II:g.14657911G>A
Sequence_detailsSMapS_parentSequenceZC101
Flanking_sequencesatgtttctttcaattaattcaggtccaccaagcacccagtgatcaccccacaaacacaga
Mapping_targetZC101
Type_of_mutationSubstitutionctPerson_evidenceWBPerson201
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004194
WBStrain00008398
WBStrain00030680
WBStrain00034393
WBStrain00034394
WBStrain00034411
WBStrain00034413
WBStrain00034415
LaboratoryCB
StatusLive
Linked_toWBVar00143390
AffectsGeneWBGene00006787
TranscriptZC101.2l.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2l.1:c.4225C>T
HGVSpCE47371:p.Gln1409Ter
cDNA_position4315
CDS_position4225
Protein_position1409
Exon_number17/24
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2c.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScZC101.2c.1:c.5083+127C>T
Intron_number17/23
ZC101.2f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2f.1:c.4813C>T
HGVSpCE37074:p.Gln1605Ter
cDNA_position4904
CDS_position4813
Protein_position1605
Exon_number16/24
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2j.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScZC101.2j.1:c.4787-420C>T
Intron_number15/22
ZC101.2o.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2o.1:c.5092C>T
HGVSpCE47336:p.Gln1698Ter
cDNA_position5092
CDS_position5092
Protein_position1698
Exon_number17/25
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2n.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScZC101.2n.1:c.5083+127C>T
Intron_number16/23
ZC101.2d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2d.1:c.7192C>T
HGVSpCE53988:p.Gln2398Ter
cDNA_position7352
CDS_position7192
Protein_position2398
Exon_number27/46
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2e.1:c.5092C>T
HGVSpCE18424:p.Gln1698Ter
cDNA_position5092
CDS_position5092
Protein_position1698
Exon_number17/35
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2k.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2k.1:c.4534C>T
HGVSpCE47284:p.Gln1512Ter
cDNA_position4534
CDS_position4534
Protein_position1512
Exon_number14/21
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2m.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2m.1:c.4795C>T
HGVSpCE47075:p.Gln1599Ter
cDNA_position4795
CDS_position4795
Protein_position1599
Exon_number16/24
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2a.1:c.5092C>T
HGVSpCE15028:p.Gln1698Ter
cDNA_position5183
CDS_position5092
Protein_position1698
Exon_number18/26
Codon_changeCag/Tag
Amino_acid_changeQ/*
ZC101.2i.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScZC101.2i.1:c.4786+564C>T
Intron_number16/22
ZC101.2r.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScZC101.2r.1:c.7459C>T
HGVSpCE51929:p.Gln2487Ter
cDNA_position7459
CDS_position7459
Protein_position2487
Exon_number27/34
Codon_changeCag/Tag
Amino_acid_changeQ/*
Interactor (8)
GeneticsInterpolated_map_positionII23.3125
Mapping_dataIn_2_point771
4502
In_multi_point1552
DescriptionPhenotypeWBPhenotype:0000006Person_evidenceWBPerson201
Curator_confirmedWBPerson48
RemarkAdults are partially egg-laying defective.Person_evidenceWBPerson201
Curator_confirmedWBPerson48
PenetranceCompletePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
RecessivePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson201
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000057PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBPhenotype:0000164Person_evidenceWBPerson201
Curator_confirmedWBPerson48
RemarkAdults are thin.Person_evidenceWBPerson201
Curator_confirmedWBPerson48
PenetranceCompletePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
RecessivePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson201
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000041PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBPhenotype:0000195Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
Remark"Several previously described class I unc-52 alleles also showed significant increases in the frequency of DTC migration defects of weak unc-5 alleles. These include unc-52(e669), unc-52(e998), and unc-52(e1421) (Table 1)."Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
"All class I unc-52 alleles (except e444) strongly enhanced the penetrance of DTC migration defects of a null allele of unc-5 (Table 1)."Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
PenetranceIncompletePaper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006865PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeunc-5(e152)Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
unc-5(e53)Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
WBPhenotype:0000349Person_evidenceWBPerson201
Curator_confirmedWBPerson48
RemarkAdults are limp.Person_evidenceWBPerson201
Curator_confirmedWBPerson48
PenetranceCompletePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
RecessivePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson201
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000041PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBPhenotype:0000553Paper_evidenceWBPaper00002086
Curator_confirmedWBPerson528
WBPhenotype:0000643Person_evidenceWBPerson201
Curator_confirmedWBPerson48
RemarkLarvae move well until late L4 stage.Person_evidenceWBPerson201
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000038PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBls:0000041PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBPhenotype:0000818Paper_evidenceWBPaper00002086
Curator_confirmedWBPerson528
WBPhenotype:0000868Person_evidenceWBPerson201
Curator_confirmedWBPerson48
RemarkAdults are paralysed (except for head region).Person_evidenceWBPerson201
Curator_confirmedWBPerson48
PenetranceCompletePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
RecessivePerson_evidenceWBPerson201
Curator_confirmedWBPerson48
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson201
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000041PATO:0000460Person_evidenceWBPerson201
Curator_confirmedWBPerson48
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000060Paper_evidenceWBPaper00002086
Curator_confirmedWBPerson528
Reference (13)
MethodSubstitution_allele