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WormBase Tree Display for Variation: WBVar00146412

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Name Class

WBVar00146412EvidencePaper_evidenceWBPaper00045317
NamePublic_nameh81
Other_nameT05E8.3.1:c.984T>A
CE37043:p.Tyr328Ter
HGVSgCHROMOSOME_I:g.5476575A>T
Sequence_detailsSMapS_parentSequenceT05E8
Flanking_sequencesAGGTACGACCAGCAACCAATACTACCTTGGCATTGTTGAATATGATTGGAATTTTTCTGCCTGAAAAAAGTTTATTTCCC
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I54765785476578
Type_of_mutationSubstitutionAT
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023679
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00020263
TranscriptT05E8.3.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT05E8.3.1:c.984T>A
HGVSpCE37043:p.Tyr328Ter
cDNA_position984
CDS_position984
Protein_position328
Exon_number6/17
Codon_changetaT/taA
Amino_acid_changeY/*
GeneticsInterpolated_map_positionI0.0276299
Mapping_dataIn_2_point2524
In_multi_point1008
In_pos_neg_data2561
2708
4548
4549
DescriptionPhenotypeWBPhenotype:0000062Paper_evidenceWBPaper00040589
WBPaper00000975
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00003985
WBPaper00002829
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksterile adult mutants had a normal life-span of two to three weeks and grew to the expected size for Unc-13 adults (0.6+/-0.8 mm)Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002829
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
WBPhenotype:0000774Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RemarkThese mutants arrested as adults and formed gonads, but had defects in germ cell proliferation, or in the formation of mature gametes. Mutants failed to undergo either spermatogenesis or oogenesis. The germ cells underwent proliferation, but not gamete differentiation. It is uncertain whether these germ cells remained in mitosis, or entered meiosis and failed to progress. There was no over proliferation of germ cells.Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
WBPhenotype:0000823Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000670Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Remarknone of the sterile mutants were rescued by wild-type sperm, thereforenone of them had defects in spermatogenesis alone.Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000041PATO:0000460Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
ReferenceWBPaper00040589
WBPaper00002829
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodSubstitution_allele