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WormBase Tree Display for Variation: WBVar00000442

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Name Class

WBVar00000442EvidencePaper_evidenceWBPaper00024442
NamePublic_namebc243
Other_nameF55B12.3b.1:c.249+78_787del
F55B12.3a.1:c.255+78_793del
HGVSgCHROMOSOME_V:g.13819804_13820654del
Sequence_detailsSMapS_parentSequenceF55B12
Flanking_sequencesGCGTTGCGGCTAATACACATGCAATAAATTAATATTTGAAATGATGATGTCTTGGTGACTGGATCTGACGATAACACTCTT
Mapping_targetF55B12
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryMD
StatusLive
AffectsGeneWBGene00004767
TranscriptF55B12.3b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF55B12.3b.1:c.249+78_787del
cDNA_position?-791
CDS_position?-787
Protein_position?-263
Intron_number4-7/12
Exon_number5-8/13
F55B12.3a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF55B12.3a.1:c.255+78_793del
cDNA_position?-797
CDS_position?-793
Protein_position?-265
Intron_number4-7/12
Exon_number5-8/13
InteractorWBInteraction000521916
GeneticsInterpolated_map_positionV5.60656
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
PenetranceIncompletepenetrance is complete at 20 and 15 deg CPaper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
Temperature_sensitiveCold_sensitive20Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
Phenotype_assayTemperature25Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
WBPhenotype:0000683Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
RemarkCauses extremely weak masculinization of hermaphrodites.Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
Variation_effectNullPaper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
WBPhenotype:0001275Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
RemarkCauses increased lin-12 signaling.Paper_evidenceWBPaper00024442
Curator_confirmedWBPerson48
Phenotype_not_observedWBPhenotype:0000700Paper_evidenceWBPaper00032182
Curator_confirmedWBPerson712
RemarkNo animals exhibited psuedovulvae.Paper_evidenceWBPaper00032182
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00032182
Curator_confirmedWBPerson712
ReferenceWBPaper00024442
WBPaper00032182
MethodDeletion_allele