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WormBase Tree Display for Variation: WBVar00143343

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Name Class

WBVar00143343NamePublic_namee620
Other_name (2)
HGVSgCHROMOSOME_X:g.3959108C>T
Sequence_detailsSMapS_parentSequenceC16B8
Flanking_sequencesccattgaaaggaacggtgccagaatctttgagggtattcatttcgcgaaacatttttcaa
Mapping_targetC16B8
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00024383
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004187
WBStrain00008502
WBStrain00008506
WBStrain00026854
WBStrain00026896
WBStrain00027230
WBStrain00030926
LaboratoryCB
StatusLive
AffectsGeneWBGene00003007
TranscriptC16B8.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC16B8.1.1:c.313C>T
HGVSpCE44782:p.Gln105Ter
cDNA_position321
CDS_position313
Protein_position105
Exon_number4/14
Codon_changeCag/Tag
Amino_acid_changeQ/*
Interactor (43)
GeneticsInterpolated_map_positionX-8.86883
Mapping_dataIn_multi_point (15)
In_pos_neg_data5833
DescriptionPhenotypeWBPhenotype:0000038Paper_evidenceWBPaper00024693
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
RemarkOccasional vulval rupture; slight maternal effect; slightly ts. e620/Df stronger phenotype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Table 4Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
PenetranceIncomplete19Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitivePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000220Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
RemarkVulva cell fate specification was abnormal as indicated by the expression patterns of the cdh-3::CFP and ceh-2::YFP transgenes (Figure 5)Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004434PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004435PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004432PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004433PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004436PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004447PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0004448PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBPhenotype:0000239Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkPolarity of 2ary lineages variably disrupted. Slight maternal effect; slightly ts. e620/Df stronger phenotype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitivePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000520Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
RemarkTable 2Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
PenetranceLowPaper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
WBPhenotype:0000695Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
RemarkFigure 5Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBPhenotype:0000697Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
Remark"For example, the main vulva protruded in only 10% of lin-17(n671) mutants and 24% of lin-18(e620) mutants (Table 4)."Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
PenetranceIncomplete24Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBPhenotype:0000700Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RemarkSingle protrusion posterior to the vulvaPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceIncompletePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Range3030Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Maternal
Phenotype_assayTemperature25Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0000961Paper_evidenceWBPaper00044058
WBPaper00024383
Curator_confirmedWBPerson2987
Remark"As previously reported, VNS::SYS-1 asymmetry in P7.p daughter cells is often lost in lin-17(n671) and lin-18(e620) mutants (Fig 4). These mutants display two aberrant patterns of VNS::SYS- 1 localization as well as the wild-type pattern, though less frequently. The two deviant localization patterns include one in which both P7.pa and P7.pp express equal amounts of VNS::SYS- 1, and a reversed VNS::SYS-1 pattern in which P7.pp is enriched with VNS::SYS-1."Paper_evidenceWBPaper00044058
Curator_confirmedWBPerson2987
Expression of egl-17::GFP in P7.p descendants was perturbed (Table 1)Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Expression of cog-1::GFP in P7.p descendants was perturbed (Table 1)Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
WBbt:0006895PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeVNS::SYS-1Paper_evidenceWBPaper00044058
Curator_confirmedWBPerson2987
egl-17::GFPPaper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
cog-1::GFPPaper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
WBPhenotype:0002011Paper_evidenceWBPaper00024383
WBPaper00024693
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPerson2987
RemarkSome (<50%) hermaphrodites have single small protrusion posterior to vulva, slight maternal effect; slightly ts. e620/Df stronger phenotype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Figure 1, Table 1, Table 2Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Figure 5Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
PenetranceIncomplete43Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006748PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
GO_termGO:0040025PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Temperature_sensitiveHeat_sensitivePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
MaternalWith_maternal_effectPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES2_Difficult_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0002193Paper_evidenceWBPaper00044058
WBPaper00024383
WBPaper00024693
WBPaper00057191
Curator_confirmedWBPerson2987
WBPerson712
RemarkFigure 5A, Table 1Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Figure 5B, Table 1Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
"In wild type, the sisters generated by the division of P7.p (P7.pa and P7.pp) most often localized POP-1 in a low/high pattern (21 of 25 specimens). However, in lin-17(n671) mutants, these sisters rarely localized POP-1 in this low/high pattern (1 of 26 specimens) and instead most often localized POP-1 in the reversed high/low pattern (16 of 26 specimens). Likewise in lin-18(e620) mutants, these sisters often localized POP-1 in the reversed high/low pattern (9 of 26 specimens). Due to these reversals, the orientation of POP-1 localization in the P7.px sisters in lin-17 and lin-18 mutants often matches that seen in wild-type P5.px sisters. After the second round of cell division, the pattern of POP-1 localization in the P7.p descendants was also disrupted in lin-17 and lin-18 mutants. The distal pair of sisters (P7.ppa and P7.ppp) showed a higher rate of reversals than the proximal pair of sisters (P7.paa and P7.pap) in both lin-17(n671) and lin-18(e620) mutants."Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
"In wild type, vulA cells arise from the posterior daughter of P7.p (P7.pp). However, in lin-17(-), lin-18(-), and in double mutants, vulA cells most commonly arose from the anterior daughter of P7.p (P7.pa). This pattern of vulA specification suggests a reversal in the P7.p lineage at the first round of cell division." (Figure 5, Table 3)Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
31% n=100Paper_evidenceWBPaper00057191
Curator_confirmedWBPerson712
ImageWBPicture0000014918Paper_evidenceWBPaper00057191
Curator_confirmedWBPerson712
PenetranceIncomplete31Paper_evidenceWBPaper00044058
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_term (13)
GO_termGO:0040025PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
Phenotype_assayGenotypeegl-17::GFPPaper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
cog-1::GFPPaper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
WBPhenotype:0002216Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
Remark"In wild type, the sisters generated by the division of P7.p (P7.pa and P7.pp) most often localized POP-1 in a low/high pattern (21 of 25 specimens). However, in lin-17(n671) mutants, these sisters rarely localized POP-1 in this low/high pattern (1 of 26 specimens) and instead most often localized POP-1 in the reversed high/low pattern (16 of 26 specimens). Likewise in lin-18(e620) mutants, these sisters often localized POP-1 in the reversed high/low pattern (9 of 26 specimens). Due to these reversals, the orientation of POP-1 localization in the P7.px sisters in lin-17 and lin-18 mutants often matches that seen in wild-type P5.px sisters. After the second round of cell division, the pattern of POP-1 localization in the P7.p descendants was also disrupted in lin-17 and lin-18 mutants. The distal pair of sisters (P7.ppa and P7.ppp) showed a higher rate of reversals than the proximal pair of sisters (P7.paa and P7.pap) in both lin-17(n671) and lin-18(e620) mutants."Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006983PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0006984PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0007265PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0007266PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000104Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
RemarkThe lin-18(e620) mutation does not affect anteroposterior polarity in the AVG interneuronPaper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0003850PATO:0000460Paper_evidenceWBPaper00044679
Curator_confirmedWBPerson2987
WBPhenotype: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:0000648Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000883Paper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
RemarkNerve ring development is normalPaper_evidenceWBPaper00035405
Curator_confirmedWBPerson2021
WBPhenotype:0001024Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkMales phenotypically wildtype.Person_evidenceWBPerson261
Curator_confirmedWBPerson712
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:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Reference (15)
MethodSubstitution_allele