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WormBase Tree Display for Variation: WBVar00144303

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Name Class

WBVar00144303EvidencePaper_evidenceWBPaper00027140
NamePublic_namee1787
Other_nameY34D9B.1b.1:c.841C>T
Y34D9B.1a.1:c.829C>T
CE24204:p.Gln281Ter
CE24203:p.Gln277Ter
HGVSgCHROMOSOME_I:g.949947G>A
Sequence_detailsSMapS_parentSequenceY34D9B
Flanking_sequencesttgagccattcaaaaagaattttgaagttcaaatctcgtgcaccgactacacccatcacc
Mapping_targetY34D9B
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00027140
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004471
WBStrain00008499
WBStrain00008500
WBStrain00008502
WBStrain00008506
LaboratoryCB
StatusLive
AffectsGeneWBGene00003238
TranscriptY34D9B.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY34D9B.1a.1:c.829C>T
HGVSpCE24203:p.Gln277Ter
cDNA_position883
CDS_position829
Protein_position277
Exon_number8/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y34D9B.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY34D9B.1b.1:c.841C>T
HGVSpCE24204:p.Gln281Ter
cDNA_position978
CDS_position841
Protein_position281
Exon_number8/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (14)
GeneticsInterpolated_map_positionI-17.492
Mapping_dataIn_multi_point1241
3434
3435
DescriptionPhenotype (15)
Phenotype_not_observedWBPhenotype:0000070Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
RemarkNo defects were reported in the morphology of the male tail hook and rays 1-6.Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
WBPhenotype:0000104Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
RemarkThe mig-1(e1787) mutation does not affect anteroposterior polarity in the AVG interneuronPaper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003850PATO:0000460Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
WBPhenotype:0000232Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006827PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFrom Table 1 legend: "A CAN was scored as defective if its nucleus was anterior to the V3 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000384Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
RemarkNo axon guidance defects in SIA/SIB/SMD neuronsPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0000469Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004991PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBbt:0003832PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFrom Table 1 legend: "Because they occupy positions near each other, the data for SDQR and AVM were combined and are presented in the QR column. SDQR and AVM were scored as defective if their nuclei were posterior to the V2.a nucleus. The position of AQR, a third QR descendant, was not included because it migrates to a location near other nuclei with similar morphology."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000471Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0005406PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFrom the Table 1 legend: "An ALM was scored as defective if its nucleus was anterior to the V2 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000594Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006826PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFrom Table 1 legend: "Because BDUs sometimes were misplaced anteriorly and at other times were misplaced posteriorly, we present the data for both phenotypes. A BDU was scored as misplaced anteriorly if its nucleus was anterior to its normal position immediately anterior to V1 and misplaced posteriorly if its nucleus was posterior to the V1 nucleus."Paper_evidenceWBPaper00024898
Curator_confirmedWBPerson2987
WBPhenotype:0000852Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
RemarkCoelomocytes were produced.Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
PenetranceHighPaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
WBPhenotype:0000883Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
RemarkNerve ring development is normalPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0001224Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
RemarkThere are six Wnt receptors encoded in the C. elegans genome: four Frizzled receptors (LIN-17, CFZ-2, MIG-1 and MOM-5,), one Ror receptor (CAM-1) and one Ryk receptor (LIN-18) (Sawa and Korswagen, 2013). We analyzed the effect of loss-of-function mutations for each receptor and found that loss of cam-1, but not the other receptors, caused defective SMDD axonal development (Figure 1D).Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004972PATO:0000460Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
WBbt:0004971PATO:0000460Paper_evidenceWBPaper00060654
Curator_confirmedWBPerson712
WBPhenotype:0001235Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
RemarkAnimals exhibited wild type V5 cell division polarity (Table 2)Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004890PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBbt:0004876PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBbt:0004250PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBbt:0007446PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBbt:0004246PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBbt:0007463PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
Life_stageWBls:0000024PATO:0000460Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
Phenotype_assayTemperature25Paper_evidenceWBPaper00004436
Curator_confirmedWBPerson2987
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
Reference (16)
MethodSubstitution_allele