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WormBase Tree Display for Variation: WBVar00275444

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Name Class

WBVar00275444EvidencePaper_evidenceWBPaper00025639
NamePublic_nameyt2
Other_nameCE26746:p.Trp270Ter
EEED8.1.1:c.810G>A
HGVSgCHROMOSOME_II:g.5422271G>A
Sequence_detailsSMapS_parentSequenceF07F6
Flanking_sequencestgataatattcgcgaggttgttaaaaaatgggacaaatggaaaattcgacgcttcacgcc
Mapping_targetF07F6
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00025639
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031149
LaboratoryQA
StatusLive
AffectsGeneWBGene00017132
TranscriptEEED8.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScEEED8.1.1:c.810G>A
HGVSpCE26746:p.Trp270Ter
cDNA_position841
CDS_position810
Protein_position270
Exon_number6/9
Codon_changetgG/tgA
Amino_acid_changeW/*
InteractorWBInteraction000502737
WBInteraction000525290
GeneticsInterpolated_map_positionII-1.63601
Mapping_dataIn_multi_point5279
DescriptionPhenotypeWBPhenotype:0000052Paper_evidenceWBPaper00025639
WBPaper00028911
Curator_confirmedWBPerson48
WBPerson557
Remarkmel-47(yt2) mutants arrest as disorganized embryos with 50 to 80 cells of variable size.Paper_evidenceWBPaper00028911
Curator_confirmedWBPerson557
PenetranceCompletePaper_evidenceWBPaper00025639
Curator_confirmedWBPerson48
Maternal
WBPhenotype:0001114Paper_evidenceWBPaper00028911
Curator_confirmedWBPerson557
Remarkmel-47 is required maternally for the proper execution of the early cell cycles.Paper_evidenceWBPaper00028911
Curator_confirmedWBPerson557
ReferenceWBPaper00028911
WBPaper00025639
MethodSubstitution_allele