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WormBase Tree Display for Variation: WBVar00275548

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Name Class

WBVar00275548EvidencePaper_evidenceWBPaper00005198
WBPaper00026975
NamePublic_namezu405
Other_nameC09G9.6.1:c.719C>T
CE03005:p.Pro240Leu
HGVSgCHROMOSOME_IV:g.8889984C>T
Sequence_detailsSMapS_parentSequenceC27B7
Flanking_sequencesctttagaaatgtttgccaggccatcaactcagatgagccagcggctaaattgccactagg
Mapping_targetC27B7
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00026975
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00035066
WBStrain00035067
WBStrain00035068
WBStrain00048324
WBStrain00052677
LaboratoryJJ
StatusLive
AffectsGeneWBGene00003864
TranscriptC09G9.6.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen0.996probably_damaging
HGVScC09G9.6.1:c.719C>T
HGVSpCE03005:p.Pro240Leu
cDNA_position829
CDS_position719
Protein_position240
Exon_number6/8
Codon_changecCa/cTa
Amino_acid_changeP/L
InteractorWBInteraction000051359
WBInteraction000501903
WBInteraction000501904
WBInteraction000501905
WBInteraction000501906
WBInteraction000501907
WBInteraction000501908
WBInteraction000501909
WBInteraction000501910
WBInteraction000524794
GeneticsInterpolated_map_positionIV3.99916
Mapping_dataIn_2_point7138
DescriptionPhenotypeWBPhenotype:0000052Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkEmbryos from zu405 homozygous mothers produce 100% dead embryos at a nonpermissive temperaturePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000062Paper_evidenceWBPaper00048539
Curator_confirmedWBPerson6615
Remarkoma-1(zu405ts) is a temperature-sensitive lethal allele of oma-1; RNAi against oma-1 suppressed oma-1(zu405ts) lethality; this suppression was partially blocked by mes-2(bn11)Paper_evidenceWBPaper00048539
Curator_confirmedWBPerson6615
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00048539
Curator_confirmedWBPerson6615
WBPhenotype:0000104Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkIn oma-1(zu405) mutant embryos, 30% of the embryos had symmetric levels of POP-1 protein in the daughters of EMS unlike wild-type (low POP-1 in E)Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0004804PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentStaining with a monoclonal POP-1 antibody (mabRL1)Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000119Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkOMA-1 protein levels were elevated in embryos past the 1-cell stage compared with wild type embryosPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentOMA-1 antibody stainingPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000414Paper_evidenceWBPaper00005930
WBPaper00046178
Curator_confirmedWBPerson2021
WBPerson13958
RemarkThe C blastomere in the oma-1(zu405) mutant expresses high levels of EMS transcription factors MED-1 and SKN-1Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
cell fate transformation: MSa-to-MS transformation (Figure 4)Paper_evidenceWBPaper00046178
Curator_confirmedWBPerson13958
PenetranceIncompletePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
HighPaper_evidenceWBPaper00046178
Curator_confirmedWBPerson13958
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0003810PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBbt:0006086PATO:0000460Paper_evidenceWBPaper00046178
Curator_confirmedWBPerson13958
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentMutant embryos were stained with SKN-1 antibodiesPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Genotypemed-1p::gfpPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000824Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkAfter laser ablation of blastomeres in oma-1(zu405) embryos, an isolated P2 blastomere produces pharyngeal muscles, body wall muscles, and intestinal cells, tissue types similar to those normally produced by a wild-type EMS blastomerePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006873PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentThe fate of P2 blastomeres was assayed by killing all other blastomeres via laser and allowing the partial embryo to develop in isolationPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000832Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkIn contrast to wild-type C blastomeres (which produce skin and muscle) over half of C blastomeres from oma-1(zu405) embryos produced either pharyngeal cells or pharyngeal and intestinal cellsPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0003810PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentThe fate of C blastomeres was assayed by killing all other blastomeres via laser and allowing the partial embryo to develop in isolationPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0000834Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkAfter laser ablation of blastomeres in some oma-1(zu405) embryos, an isolated EMS blastomere produces pharyngeal muscles, body wall muscles, but no intestinal cellsPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0004804PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentThe fate of EMS blastomeres was assayed by killing all other blastomeres via laser and allowing the partial embryo to develop in isolationPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0001235Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Remark50% of oma-1(zu405) embryos had a cleavage axis rotated at least 60 relative to the a-p axis.Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006876PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Life_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0001351Paper_evidenceWBPaper00026975
Curator_confirmedWBPerson2987
Remark"Importantly, the proline to leucine change (P240L) found in the oma-1 gain-of-function mutants (zu405 and ne411) also prevented phosphorylation at T239 (Figure 5B)."Paper_evidenceWBPaper00026975
Curator_confirmedWBPerson2987
WBPhenotype:0001635Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Remarkoma-1(zu405) mutant embryos have excess pharyngeal tissuesPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentStaining with pharynx-specific antibody Mab3NB12Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0001636Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Remarkoma-1(zu405) mutant embryos have excess intestinal tissuesPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentStaining with intestine-specific antibody MabICB4Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0001645Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkRegulated degradation of PIE-1, POS-1, MEX-1, MEX-5 and MEX-3 maternal proteins is defective in oma-1(zu405) mutant embryosPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentStaining with POS-1, MEX-1, MEX-5 and MEX-3 antibodiesPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Genotypepie-1p::GFPPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000306Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
RemarkNo ectopic expression of fkh-6::GFP was observed.Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
WBPhenotype:0000436Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
RemarkSpatial localization of OMA-1 resembles wild-type. OMA-1 protein colocalizes with P-granules in the germline precursors in zu405 mutant embryosPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Semi_dominantPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25CPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
MaternalStrictly_maternalPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
Phenotype_assayTreatmentCostaining with various antibodies known to recognize P-granules, such as OIC4, MEX-1 antibody, and POS-1 antibodyPaper_evidenceWBPaper00005930
Curator_confirmedWBPerson2021
WBPhenotype:0001021Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
RemarkMutant males are not feminized based on fkh-6::GFP expression.Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
WBPhenotype:0001357Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
RemarkNo defects in male gonad morphology was observed.Paper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00036019
Curator_confirmedWBPerson712
ReferenceWBPaper00036019
WBPaper00018617
WBPaper00026975
WBPaper00010630
WBPaper00005930
WBPaper00027952
WBPaper00018887
WBPaper00026378
WBPaper00046178
WBPaper00048539
WBPaper00061828
MethodSubstitution_allele