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WormBase Tree Display for Variation: WBVar00241035

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Name Class

WBVar00241035EvidencePaper_evidenceWBPaper00003410
NamePublic_nameq223
Other_nameCE01027:p.Gln473Ter
K03H1.2.1:c.1417C>T
HGVSgCHROMOSOME_III:g.9954696G>A
Sequence_detailsSMapS_parentSequenceK03H1
Flanking_sequencesgtcggagaaacaggatcaggaaaaacaactagttggcacaatacctacttgaagatggat
Mapping_targetK03H1
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00003410
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022549
LaboratoryJK
StatusLive
AffectsGeneWBGene00003389
TranscriptK03H1.2.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScK03H1.2.1:c.1417C>T
HGVSpCE01027:p.Gln473Ter
cDNA_position1420
CDS_position1417
Protein_position473
Exon_number4/9
Codon_changeCag/Tag
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionIII1.35299
Mapping_dataIn_2_point6121
In_multi_point1670
DescriptionPhenotypeWBPhenotype:0000052Paper_evidenceWBPaper00001710
Curator_confirmedWBPerson502
RemarkTable 6Paper_evidenceWBPaper00001710
Curator_confirmedWBPerson502
WBPhenotype:0000385Paper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
RemarkXX mog mutant adults produce two to five times the normal number of spermPaper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
WBPhenotype:0000683Paper_evidenceWBPaper00001883
WBPaper00003410
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
WBPerson502
RemarkGerm cells that would normally become oocytes have been transformed into sperm insteadPaper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
hermaphrodite germline makes 300-500 sperm, no oocytes; q223/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
homozygotes have a masculinized germlinePaper_evidenceWBPaper00003410
Curator_confirmedWBPerson502
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
WBPhenotype:0001360Paper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001883
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000399Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno somatic defects; q223/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001675Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkmales WT, q223/Df similarPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00001883
WBPaper00001710
WBPaper00003410
WBPaper00015490
MethodSubstitution_allele