Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00144267

expand all nodes | collapse all nodes | view schema

Name Class

WBVar00144267EvidencePaper_evidenceWBPaper00004503
NamePublic_namee1735
Other_nameY47H9C.4b.1:c.1123C>T
CE20264:p.Gln375Ter
CE30362:p.Gln375Ter
Y47H9C.4c.1:c.1123C>T
CE30361:p.Gln375Ter
Y47H9C.4a.1:c.1123C>T
HGVSgCHROMOSOME_I:g.11860931G>A
Sequence_detailsSMapS_parentSequenceY47H9C
Flanking_sequencesaaatgtgacgaacgaaaatgcgatgcggagaatacggcgcagattgctccaaaacgtgta
Mapping_targetY47H9C
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (13)
LaboratoryCB
StatusLive
AffectsGeneWBGene00000415
TranscriptY47H9C.4a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY47H9C.4a.1:c.1123C>T
HGVSpCE20264:p.Gln375Ter
cDNA_position1129
CDS_position1123
Protein_position375
Exon_number7/13
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y47H9C.4c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY47H9C.4c.1:c.1123C>T
HGVSpCE30362:p.Gln375Ter
cDNA_position1129
CDS_position1123
Protein_position375
Exon_number7/12
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y47H9C.4b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY47H9C.4b.1:c.1123C>T
HGVSpCE30361:p.Gln375Ter
cDNA_position1129
CDS_position1123
Protein_position375
Exon_number7/13
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (28)
GeneticsInterpolated_map_positionI12.8808
Mapping_data (2)
DescriptionPhenotype (13)
Phenotype_not_observedWBPhenotype:0000072Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkno gross phenotypePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001190Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
RemarkNo difference in pumping rates were perceived between mutant and wild-type animals. Expression levels of pharyngeal genes were not significantly different from expression levels observed for wild-type animals. No S. enterica invasion was noted during early infection.Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Phenotype_assayTreatmentA total of 20 ml of culture was plated onto a 3.5 cm plate containing modified NGM (3.5% peptone instead of 2.5%). Synchronized one-day-old adult hermaphroditic nematodes were transferred to lawns of the various bacteria and transferred daily to a fresh lawn until progeny were no longer produced.Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
Temperature25Paper_evidenceWBPaper00032003
Curator_confirmedWBPerson712
WBPhenotype:0002486Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Remark"Mutations in genes within the ced-1/6/7 pathway (ced-1, ced-7, nrf-5, ttr-52), the ced-2/5/12 pathway (ced-2, ced-5), or both pathways (ced-1;ced-2 and ced-7;ced-5) did not cause PGC lobes to persist in L1 larvae (Supplementary Table 1), indicating that ced-10 functions in PGC lobe scission in a different context than it does in cell corpse engulfment." (PGC = 'primordial germ cell')Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Variation_effectPredicted_null_via_sequencePaper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004576PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
WBbt:0004575PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAll strains include the xnIs360 or xnSi1 transgenes to visualize PGC membranes.Paper_evidenceWBPaper00050421
Curator_confirmedWBPerson2987
Reference (23)
MethodSubstitution_allele