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WormBase Tree Display for Variation: WBVar00143343

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Name Class

WBVar00143343NamePublic_namee620
Other_nameC16B8.1.1:c.313C>T
CE44782:p.Gln105Ter
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/*
InteractorWBInteraction000001264
WBInteraction000500472
WBInteraction000500473
WBInteraction000500481
WBInteraction000500482
WBInteraction000500483
WBInteraction000500484
WBInteraction000500485
WBInteraction000503762
WBInteraction000518780
WBInteraction000523922
WBInteraction000523923
WBInteraction000523924
WBInteraction000523925
WBInteraction000523926
WBInteraction000523927
WBInteraction000523928
WBInteraction000523929
WBInteraction000523930
WBInteraction000524027
WBInteraction000534754
WBInteraction000535553
WBInteraction000535555
WBInteraction000535556
WBInteraction000535557
WBInteraction000535558
WBInteraction000535559
WBInteraction000535560
WBInteraction000535562
WBInteraction000535563
WBInteraction000535564
WBInteraction000535569
WBInteraction000535571
WBInteraction000535572
WBInteraction000535573
WBInteraction000535574
WBInteraction000538607
WBInteraction000538620
WBInteraction000538621
WBInteraction000538622
WBInteraction000538623
WBInteraction000541835
WBInteraction000563369
GeneticsInterpolated_map_positionX-8.86883
Mapping_dataIn_multi_point393
394
395
644
645
646
1550
2227
2229
2230
2231
2232
2233
2234
2291
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_termWBbt:0006895PATO:0000460Paper_evidenceWBPaper00044058
WBPaper00024383
Curator_confirmedWBPerson2987
WBbt:0006748PATO:0000460Paper_evidenceWBPaper00024383
Curator_confirmedWBPerson2987
WBbt:0006983PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0006984PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0007265PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt:0007266PATO:0000460Paper_evidenceWBPaper00024693
Curator_confirmedWBPerson2987
WBbt: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
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
ReferenceWBPaper00031110
WBPaper00004436
WBPaper00006052
WBPaper00035405
WBPaper00024383
WBPaper00000762
WBPaper00024693
WBPaper00014324
WBPaper00023511
WBPaper00015472
WBPaper00015594
WBPaper00044058
WBPaper00044679
WBPaper00057191
WBPaper00060654
MethodSubstitution_allele