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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 (21)
LaboratoryCB
DCD
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
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00002050
Curator_confirmedWBPerson48
WBPhenotype:0000140Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Remarkexacerbated L3 arrest compared with wild-type at 72 and 96 hPaper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003513Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000035PATO:0000460Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Phenotype_assayTreatmentserial ultraviolet C radiation(UVC) exposure (10 J/m2)Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
WBPhenotype:0000181Paper_evidenceWBPaper00001105
WBPaper00031671
Curator_confirmedWBPerson2021
RemarkHSN axons are posteriorly misdirected and never reach the nerve ringPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
In unc-51 mutatns, 29% of the NSM neurons lack a dorsal process while 38% have defects in the termination of the dorsal or subventral process along the anterior-posterior axisPaper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
PenetranceLowPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range33Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBbt:0003666PATO:0000460Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Phenotype_assayGenotypezdIs13 [ tph-1p::GFP]Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
WBPhenotype:0000274Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
Remark10-20% dead eggs.Paper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
WBPhenotype:0000457Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
RemarkReduced L1 starvation survivalPaper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
EQ_annotationsLife_stageWBls:0000802PATO:0000460Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
GO_termGO:0042594PATO:0000460Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
WBPhenotype:0000572Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdorsal extensions of DD and VD neurons grow in aberrant directions fail to connect to dorsal nerve cordPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005270PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0005303PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000583Paper_evidenceWBPaper00002050
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
RemarkdumpyPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000640Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkEglPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000644Paper_evidenceWBPaper00002050
WBPaper00000031
WBPaper00038332
Person_evidenceWBPerson261
Curator_confirmedWBPerson48
WBPerson712
Remarklf mutations in unc-51 led to paralyzed adultsPaper_evidenceWBPaper00038332
Curator_confirmedWBPerson712
paralysedPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000736Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
RemarkInduction of autophagosome membrane marker GFP-LGG-1-positive puncta at the 1-cell stage was strongly inhibited. Retardation of the disappearance of paternal mitochondria was observed when mutant hermaphrodites were mated with wild-type males.Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
WBPhenotype:0000880Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkAmphid, phasmid, PDE and other axons abnormal; multiple defects in axon elongation, fasciculation, etc. Abnormal axon ultrastructure: varicosities, cisternae, abnormal vesicles.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005394PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006753PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006747PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000885Paper_evidenceWBPaper00041694
Curator_confirmedWBPerson2798
Remarkdelayed engulfment of apoptotic corpses during embryogenesisPaper_evidenceWBPaper00041694
Curator_confirmedWBPerson2798
WBPhenotype:0001135Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
RemarkPaternal mitochondria persisted.Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPaper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
WBPhenotype:0001224Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceIncomplete1 percent of mutants have ventral blocks and 97 percent have anterior blocksPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001227Paper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
RemarkRay commissures absent: R1, R2/3, R4/5.Paper_evidenceWBPaper00027335
Curator_confirmedWBPerson48
WBPhenotype:0001329Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarktends to curlPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001375Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
RemarkInduction of GFP-LGG-1-positive puncta at the 1-cell stage was strongly inhibited.Paper_evidenceWBPaper00040312
Curator_confirmedWBPerson712
WBPhenotype:0002267Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
RemarkMutants fail to deplete mtDNA during starvation.Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
EQ_annotationsGO_termGO:0042594PATO:0000460Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
GO:0005739PATO:0000460Paper_evidenceWBPaper00055078
Curator_confirmedWBPerson14703
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 (25)
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