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WormBase Tree Display for Variation: WBVar00090320

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Name Class

WBVar00090320EvidencePaper_evidenceWBPaper00003948
NamePublic_namen1994
Other_nameCE28360:p.Arg102Ter
Y41D4B.13a.1:c.304C>T
HGVSgCHROMOSOME_IV:g.1597623C>T
Sequence_detailsSMapS_parentSequenceY41D4B
Flanking_sequencesattccggcgttgttgaatcattttaaaatggagttttgactgaggcaagcctgctggccg
Mapping_targetY41D4B
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00027171
WBStrain00040546
LaboratoryMT
StatusLive
AffectsGeneWBGene00000416
TranscriptY41D4B.13a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY41D4B.13a.1:c.304C>T
HGVSpCE28360:p.Arg102Ter
cDNA_position306
CDS_position304
Protein_position102
Exon_number2/5
Codon_changeCga/Tga
Amino_acid_changeR/*
InteractorWBInteraction000051414
WBInteraction000051415
WBInteraction000517320
WBInteraction000517321
WBInteraction000517343
WBInteraction000517344
WBInteraction000520138
WBInteraction000521808
WBInteraction000521814
WBInteraction000557027
GeneticsInterpolated_map_positionIV-16.6601
DescriptionPhenotypeWBPhenotype:0000241Paper_evidenceWBPaper00032272
WBPaper00003948
Curator_confirmedWBPerson712
RemarkAnimals accumulated germ cell as well as embryonic cell corpses.Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
WBPhenotype:0000243Paper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
RemarkNo enrichment of DYN-1 adjacent to the apoptotic cell in mutant worms deficient for corpse internalization, suggesting that DYN-1 is recruited at a stage following corpse recognition and internalizationPaper_evidenceWBPaper00031805
Curator_confirmedWBPerson2021
WBPhenotype:0000301Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
RemarkDistal tip cells did not follow a typical path, resulting in gonad arms that exhibited inappropriate turns, twists, or positions with in the body cavity.Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
WBPhenotype:0000885Paper_evidenceWBPaper00001438
WBPaper00032272
WBPaper00038317
Curator_confirmedWBPerson2021
WBPerson712
RemarkFailure to engulf cell corpsesPaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Only a small amount of germ-cell corpses were labeled by acridine orange in contrast to wild-type animals where cell corpses were rapidly engulfed and were 70% AO-positive.Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Persistent cell corpses accumulate.Paper_evidenceWBPaper00038317
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003681PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
WBbt:0003666PATO:0000460Paper_evidenceWBPaper00001438
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Maternal
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
WBPhenotype:0002408Paper_evidenceWBPaper00041869
Curator_confirmedWBPerson3772
WBPhenotype:0010004Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
RemarkOnly a small amount of germ-cell corpses were labeled by acridine orange in contrast to wild-type animals where cell corpses were rapidly engulfed and were 70% AO-positive.Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Phenotype_assayTemperature15, 25Paper_evidenceWBPaper00032272
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000047Paper_evidenceWBPaper00040757
Curator_confirmedWBPerson712
Remark0/6 gastrulation defect/total embryosPaper_evidenceWBPaper00040757
Curator_confirmedWBPerson712
WBPhenotype:0000188Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
RemarkGonadal arms were as long as those in wild-type animals; germ cells were organized properly as well.Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0001656Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
RemarkInitiating and maintaining a trajectory is normal.Paper_evidenceWBPaper00003948
Curator_confirmedWBPerson712
ReferenceWBPaper00038317
WBPaper00040757
WBPaper00041869
WBPaper00031805
WBPaper00001438
WBPaper00032272
WBPaper00003948
WBPaper00035198
MethodSubstitution_allele