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WormBase Tree Display for Variation: WBVar00143154

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Name Class

WBVar00143154EvidencePaper_evidenceWBPaper00002050
NamePublic_namee369
Other_nameY60A3A.1.1:c.-2G>A
HGVSgCHROMOSOME_V:g.20004422C>T
Sequence_detailsSMapS_parentSequenceY60A3A
Flanking_sequencesatagtcacacaataatcacccaacccagctaatggagcagtttgacggcttcgagtacag
Mapping_targetY60A3A
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00002050
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (19)
LaboratoryCB
StatusLive
AffectsGeneWBGene00006786
TranscriptY60A3A.1.1VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScY60A3A.1.1:c.-2G>A
cDNA_position64
Exon_number1/11
Interactor (21)
GeneticsInterpolated_map_positionV24.4355
Mapping_dataIn_2_point137
254
849
3379
3380
6116
6128
7012
7165
In_multi_point (22)
In_pos_neg_data298
2143
DescriptionPhenotype (19)
Phenotype_not_observedWBPhenotype:0000062Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
Remarklf mutations in unc-51 led to viable adults.Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
WBPhenotype:0000306Paper_evidenceWBPaper00041269
Curator_confirmedWBPerson2987
Remark"To confirm that the autophagy pathway was not a major means of CPL-1(W32A;Y35A)::YFP disposal, we crossed Pnhx-2::cpl-1(W32A;Y35A)::YFP animals with an unc-51(e369) knockout strain to yield unc-51(e369);P-nhx-2::CPL-1(W32A;Y35A)::YFP; Pmyo-2::mCherry animals. Two independent lines were analyzed, and showed no significant differences in the level of CPL-1(W32A;Y35A)::YFP, as compared to the controls (Figure 6B)."Paper_evidenceWBPaper00041269
Curator_confirmedWBPerson2987
WBPhenotype:0000436Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
RemarkLocalization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS.Paper_evidenceWBPaper00028886
Curator_confirmedWBPerson48
WBPhenotype:0000688Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
Remarklf mutations in unc-51 led to fertilePaper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
WBPhenotype:0000885Paper_evidenceWBPaper00050047
Curator_confirmedWBPerson7492
Remarkmidbody phagocytosis normalPaper_evidenceWBPaper00050047
Curator_confirmedWBPerson7492
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0001846Paper_evidenceWBPaper00050047
Curator_confirmedWBPerson7492
Remarkmidbody phagosome maturation normalPaper_evidenceWBPaper00050047
Curator_confirmedWBPerson7492
Reference (24)
Remarke369 is a coupled mutation. In addition to the curated lesion there is a CAG to TAG substitution with flanking sequences agccgacgattcatgagaatgagccgttgg taatgcaaagtatcagcagacggatgttaaPaper_evidenceWBPaper00002050
MethodSubstitution_allele