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WormBase Tree Display for Variation: WBVar00089424

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Name Class

WBVar00089424EvidencePaper_evidenceWBPaper00031068
NamePublic_namen324
Other_nameCE25115:p.Leu444Ter
T19B4.7.1:c.1331T>A
HGVSgCHROMOSOME_I:g.5685157A>T
Sequence_detailsSMapS_parentSequenceT19B4
Flanking_sequencescgagaaccagaagacgtcgaacggaggcctacggtgcagacgaagtcattggaactcctg
Mapping_targetT19B4
Type_of_mutationSubstitutionatCurator_confirmedWBPerson4055
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00024161
WBStrain00026722
LaboratoryMT
StatusLive
AffectsGeneWBGene00006776
TranscriptT19B4.7.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScT19B4.7.1:c.1331T>A
HGVSpCE25115:p.Leu444Ter
cDNA_position1394
CDS_position1331
Protein_position444
Exon_number10/19
Codon_changetTa/tAa
Amino_acid_changeL/*
InteractorWBInteraction000500889
WBInteraction000518897
WBInteraction000518900
WBInteraction000536176
WBInteraction000536177
WBInteraction000536178
WBInteraction000536179
WBInteraction000536180
GeneticsInterpolated_map_positionI0.309528
DescriptionPhenotypeWBPhenotype:0000164Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000324Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0000384Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
RemarkMutants 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
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBbt:0006830PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBPhenotype:0000470Paper_evidenceWBPaper00038152
Curator_confirmedWBPerson712
RemarkWeak defects in HSN ventral migration.Paper_evidenceWBPaper00038152
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00038152
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001005Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001224Paper_evidenceWBPaper00001105
WBPaper00032907
Curator_confirmedWBPerson2021
WBPerson712
RemarkHSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
HSN axons are misguided in both their initial outgrowth and their ultimate extension to the ventral midline regardless of the HSN cell body position.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range8282Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
WBPaper00032907
Curator_confirmedWBPerson2021
WBPerson712
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001226Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkAnimals exhibit commissural axon guidance defects, which are rescued by pan-neuronal expression of UNC-40::GFP.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
WBPhenotype:0001639Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001716Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0001930Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkMutants have dramatically fewer dorsal and ventral arms than control animals. Heterozygous animals are semi-dominant for ventral muscle arm defects but not for dorsal muscle arm defects. These defects are rescued by trIs34[Punc-4::UNC-40::YFP] but not by pan-neuronal expression of UNC-40.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Semi_dominantPaper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
WBPhenotype:0001934Paper_evidenceWBPaper00036485
Curator_confirmedWBPerson712
RemarkAnimals exhibit errors in extending contralateral vulval muscles such that they fail to meet at the midline.Paper_evidenceWBPaper00036485
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00036485
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00036485
Curator_confirmedWBPerson712
WBPhenotype:0002284Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002290Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002292Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002295Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002298Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002301Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002310Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002312Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002323Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002336Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0002347Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004022Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
WBPhenotype:0004023Paper_evidenceWBPaper00043908
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0001931Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkThe number of lateral muscle arms did not differ significantly from control animals.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
ReferenceWBPaper00038152
WBPaper00040147
WBPaper00043908
WBPaper00035198
WBPaper00001105
WBPaper00032907
WBPaper00036485
RemarkVariation flanks and nucleotide change automatically updated to be on the positive strand to fix mapping and gff dumping issues.
[200224 mh6] reverse complemented/swapped the change and flanks to move the variation onto the plus strandCurator_confirmedWBPerson4055
MethodSubstitution_allele