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WormBase Tree Display for Variation: WBVar00089659

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Name Class

WBVar00089659EvidencePaper_evidenceWBPaper00002543
NamePublic_namen671
Other_nameY71F9B.5a.2:c.1345C>T
Y71F9B.5a.1:c.1345C>T
Y71F9B.5b.1:c.1345C>T
CE50007:p.Gln381Ter
CE28810:p.Gln449Ter
CE25569:p.Gln449Ter
Y71F9B.5c.1:c.1141C>T
HGVSgCHROMOSOME_I:g.2714848C>T
Sequence_detailsSMapS_parentSequenceY71F9B
Flanking_sequencestgtcaatgctataaattcatgattctcaccaatggacccgaatgacaattgactgtaaac
Mapping_targetY71F9B
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00002543
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00008499
WBStrain00008500
WBStrain00008502
WBStrain00024033
WBStrain00026829
WBStrain00026967
WBStrain00027093
WBStrain00027149
LaboratoryMT
StatusLive
AffectsGeneWBGene00003006
TranscriptY71F9B.5c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY71F9B.5c.1:c.1141C>T
HGVSpCE50007:p.Gln381Ter
cDNA_position1141
CDS_position1141
Protein_position381
Exon_number6/7
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y71F9B.5a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY71F9B.5a.1:c.1345C>T
HGVSpCE25569:p.Gln449Ter
cDNA_position1375
CDS_position1345
Protein_position449
Exon_number9/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y71F9B.5b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY71F9B.5b.1:c.1345C>T
HGVSpCE28810:p.Gln449Ter
cDNA_position1376
CDS_position1345
Protein_position449
Exon_number9/11
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Y71F9B.5a.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScY71F9B.5a.2:c.1345C>T
HGVSpCE25569:p.Gln449Ter
cDNA_position1672
CDS_position1345
Protein_position449
Exon_number10/12
Codon_changeCaa/Taa
Amino_acid_changeQ/*
Interactor (76)
GeneticsInterpolated_map_positionI-7.32074
Mapping_dataIn_2_point3196
7005
7006
In_multi_point414
1044
1045
1050
2206
2207
3030
3200
3435
In_pos_neg_data4081
4354
5696
6234
6577
6630
6640
DescriptionPhenotype (35)
Phenotype_not_observedWBPhenotype:0000218Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
RemarkNo significant number of overinduced animals (worms with greater than three VPCs induced) were detected.Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
WBPhenotype:0000219Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
RemarkNo underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected.Paper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00031110
Curator_confirmedWBPerson712
WBPhenotype:0000239Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Remark"Among the pairs of inner and outer P6.pxxx cells that adopted different fates in AC ablated wild-type animals, RAS(dn) induced animals, or lin-1 mutants, 64 of 70, 33 of 38 and 48 of 52, respectively, had the proper orientation with vulF facing the normal position of the AC (Table 7). In lin-17 mutants, six of seven also had the proper orientation (P>0.5, Table 7). Therefore, the intrinsic bias of the inner and outer cells to adopt a proper orientation in the 1° pattern is relatively normal when lin-17 is mutated."Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0007809PATO:0000460Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Phenotype_assayGenotypesyIs49 [zmp-1::GFP]Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
WBPhenotype:0000594Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
Remark"We therefore determined the orientation of P(11/12)L/R migration in mutants affecting P12 determination: a lin-44; lin-3 double mutant, a lin-17 mutant (LIN-17 is the putative receptor of Wnt/LIN-44; Herman et_al, 1995; Sawa et_al, 1996), a bar-1 mutant (BAR-1/Armadillo is an effector of the Wnt pathway; Eisenmann et_al, 1998), and an egl-5 mutant. In all mutants observed, both cells of the P11/12 pair generally adopt the P11 fate (Table 1A). If the migration handedness was a consequence of fate determination, it should be unbiased in these mutants. However, we see a biased migration pattern of P(11/12)L/R similar to that of wild type (Table 1A). Thus, a left-right asymmetry between the two cells of the P11/12 pair still exists in mutants of their final fate determination."Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00004662
Curator_confirmedWBPerson2987
WBPhenotype:0000852Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
Remark21 out of 25 adults produce coelomocytes.Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitivePaper_evidenceWBPaper00002582
Curator_confirmedWBPerson712
WBPhenotype:0000961Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Remark"We suspected that LIN-17 could be involved in the asymmetric divisions of the 1° VPC daughter P6.px, despite that the 1° lineage patterning is wild-type in lin-17(lf) mutants (Table 6). First, a lin-17::lacZ reporter gene was expressed in all P6.pxx cells (Sawa et al., 1996). Second, and more importantly, double mutants of lin-17 and lin-18, another gene involved in asymmetric divisions in the 2° vulval lineage, show defects in zmp-1::GFP expression in P6.pxxx cells, although neither single mutant does (Table 6; Ferguson et al., 1987; M. W., W. Katz and P. W. S., unpublished)."Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0007809PATO:0000460Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
Phenotype_assayGenotypesyIs49 [zmp-1::GFP]Paper_evidenceWBPaper00004481
Curator_confirmedWBPerson2987
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
Reference (36)
MethodSubstitution_allele