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WormBase Tree Display for Variation: WBVar00144001

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Name Class

WBVar00144001EvidencePaper_evidenceWBPaper00031068
NamePublic_namee1430
Other_nameCE25115:p.Arg157Ter
T19B4.7.1:c.469C>T
HGVSgCHROMOSOME_I:g.5687164G>A
Sequence_detailsSMapS_parentSequenceT19B4
Flanking_sequencesttggcaaagtttgaactgcaagcgattgatgaactctagcaaaagggcagccaactgcgt
Mapping_targetT19B4
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00031068
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004390
WBStrain00022025
WBStrain00022040
WBStrain00022045
LaboratoryCB
StatusLive
AffectsGeneWBGene00006776
TranscriptT19B4.7.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT19B4.7.1:c.469C>T
HGVSpCE25115:p.Arg157Ter
cDNA_position532
CDS_position469
Protein_position157
Exon_number5/19
Codon_changeCga/Tga
Amino_acid_changeR/*
Interactor (11)
GeneticsInterpolated_map_positionI0.317602
Mapping_dataIn_multi_point244
290
In_pos_neg_data4018
4028
4032
4038
4045
4052
4059
4066
DescriptionPhenotypeWBPhenotype:0000104Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Remark"Overall, in unc-40(e1430) mutants, 29% of QL cells showed no clear direction of polarization and 4% were misdirected towards the anterior (Fig. 3L). Similarly, 38% of QR cells were unpolarized and 14% of QR cells were incorrectly polarized towards the posterior (Fig. 3M)."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
GO_termGO:0030010PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000137Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
RemarkIntroduction of the unc-40(e1430) allele to the mig-21(u787) mutant background resulted in a relative loss of endogenous mab-5 mRNA expression in QL cells, resembling normal (low) QR mab-5 expression (Figure 7C).Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeheIs63[Pwrt-2::gfp-ph; Pwrt-2::h2b-gfp]Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
WBPhenotype:0000229Paper_evidenceWBPaper00044134
Curator_confirmedWBPerson1659
RemarkTable 3Paper_evidenceWBPaper00044134
Curator_confirmedWBPerson1659
WBPhenotype:0000384Paper_evidenceWBPaper00036484
WBPaper00035146
WBPaper00040147
WBPaper00031828
WBPaper00040041
Curator_confirmedWBPerson712
RemarkAVM axons sometimes fail to grow ventrally.Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
AVM axons migrate anteriorly and HSN axons migrate in a number of aberrant patterns, this defect is more pronounced for HSN axons.Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
Mutants exhibited a weaker effect on dorsally directed VD axons than unc-6 and unc-5 animals.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
Animals had strong axon guidance defects.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
Animals exhibit dorsal guidance defects.Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
Animals exhibit AVM ventral axon guidance defects. These defects can be rescued by exogenous acetylcholine. DD and VD axon guidance defects were not suppressed by acetylcholine.Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004765Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003832PATO:0000460Paper_evidenceWBPaper00036484
WBPaper00035146
WBPaper00040041
Curator_confirmedWBPerson712
WBbt:0006830PATO:0000460Paper_evidenceWBPaper00035146
WBPaper00040147
Curator_confirmedWBPerson712
WBbt:0005303PATO:0000460Paper_evidenceWBPaper00040147
WBPaper00040041
Curator_confirmedWBPerson712
WBbt:0005274PATO:0000460Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
WBbt:0005278PATO:0000460Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
WBPhenotype:0000469Paper_evidenceWBPaper00040419
WBPaper00004437
Curator_confirmedWBPerson2987
Remarkunc-40(e1430) mutants exhibit a failure of QL and QR to properly migrate.Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
"As predicted, we found that in unc-40 and dpy-19 mutants, the QL descendants sometimes migrated anteriorly and the QR descendants sometimes remained in the posterior (Fig. 7 and Hedgecock et al., 1990)."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00040419
Curator_confirmedWBPerson2987
WBbt:0004086PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004993PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000695Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Remarkunc-40 mutants exhibit a vulval morphology defect: vulF is misshapenPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0001224Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
Remark84% of animals showed wild-type ASI amphid neuron outgrowth. Mutants also showed premature axon termination (10%) or lateral axon outgrowth (6%).Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
Phenotype_assayGenotypekyIs128[str-3::GFP]Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
WBPhenotype:0001848Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
RemarkMutants lack a dorsal vulval lumenPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeIcEx982.11.2 (TAT-2::GFP)Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000104Paper_evidenceWBPaper00033081
WBPaper00035146
Curator_confirmedWBPerson2021
RemarkPolarity is normal in all mutantsPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Mutants do not alter the asymmetric localization of UNC-40Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_assayGenotypekuIs47 [AJM-1::GFP]Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0000220Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Remarkzmp-1 and lin-3 markers are expressed in the correct cell at the expected time in over 90% of the mutantsPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
Phenotype_assayGenotypesyIs107[lin-3(delta-pes-10)::GFP], syIs49[zmp- 1::GFP]Paper_evidenceWBPaper00033081
Curator_confirmedWBPerson2021
WBPhenotype:0000384Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003832PATO:0000460Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
RemarkUNC-40::GFP is ventrally localized as in wild type animals.Paper_evidenceWBPaper00035146
Curator_confirmedWBPerson712
Reference (13)
MethodSubstitution_allele