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WormBase Tree Display for Variation: WBVar00144296

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Name Class

WBVar00144296NamePublic_namee1777
Other_namee1777am
C37F5.1b.1:c.805C>T
CE31440:p.Gln309Ter
CE27833:p.Gln269Ter
C37F5.1a.1:c.925C>T
HGVSgCHROMOSOME_IV:g.2277404G>A
Sequence_detailsSMapS_parentSequenceC37F5
Flanking_sequencesccgtcaatctcgtctccacttctgatgcttagcaacaccatcaaaactccccgctattcc
Mapping_targetC37F5
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00002352
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005499
WBStrain00026770
LaboratoryCB
StatusLive
AffectsGeneWBGene00002990
TranscriptC37F5.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1a.1:c.925C>T
HGVSpCE31440:p.Gln309Ter
cDNA_position925
CDS_position925
Protein_position309
Exon_number5/7
Codon_changeCag/Tag
Amino_acid_changeQ/*
C37F5.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC37F5.1b.1:c.805C>T
HGVSpCE27833:p.Gln269Ter
cDNA_position813
CDS_position805
Protein_position269
Exon_number4/6
Codon_changeCag/Tag
Amino_acid_changeQ/*
InteractorWBInteraction000001242
WBInteraction000502389
WBInteraction000504230
WBInteraction000541772
WBInteraction000542312
WBInteraction000542313
WBInteraction000542314
GeneticsInterpolated_map_positionIV-8.49046
Mapping_dataIn_2_point3277
5217
6179
6185
In_multi_point1270
1842
2438
2440
DescriptionPhenotypeWBPhenotype:0000038Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkoften bursts at abnormal vulva during L4 moltPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000216Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Remarkdefect in Bγ cell fate specificationPaper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
defect in Bδ cell fate specificationPaper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0007830PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
WBbt:0008451PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GO_termGO:0001708PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Phenotype_assayControl_strainWBStrain00044748Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Treatmentceh-13::gfp as marker of Bγ cell fate syIs145 PS4807 contains the ceh-13::GFP integrated transgene syIs145 that was obtained by microinjection of pMF1 at 10 ng/μl, pBS at 20 ng/μl and unc-119(+) at 40 ng/μl into unc-119(ed4); him-5(e1490) mutant animals.Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GenotypesIys145 [ceh-13::GFP]Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
WBPhenotype:0000700Paper_evidenceWBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Remarkadult hermaphrodite has multiple (one to four) vulval protrusions; easy to score (ES3) in adult, very hard to score (ES1) in larvaePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001276Paper_evidenceWBPaper00027035
WBPaper00035553
Curator_confirmedWBPerson2987
WBPerson625
Remark"To assess the mechanism of lin-39 upregulation in lin-1 loss-of-function mutants, we analyzed lin-1(e1777); deIs1 and lin-1(e1777); deIs4 strains, and found that in a lin-1(e1777) mutant background, the GFP levels increased significantly in P5.p-P8.p after vulval induction for the transcriptional fusion (Fig. 9B)."Paper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
syIs45 expressed in Bδ (abnormal spicule development)Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0008451PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GO_termGO:0010467PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Phenotype_assayControl_strainWBStrain00044748Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Treatmentceh-13::gfp as marker of Bγ cell fate syIs145 PS4807 contains the ceh-13::GFP integrated transgene syIs145 that was obtained by microinjection of pMF1 at 10 ng/μl, pBS at 20 ng/μl and unc-119(+) at 40 ng/μl into unc-119(ed4); him-5(e1490) mutant animals.Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Genotypelin-39::GFPPaper_evidenceWBPaper00027035
Curator_confirmedWBPerson2987
sIys145 [ceh-13::GFP]Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
WBPhenotype:0001278Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Remarkdecreased sIys145 expression in BγPaper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0007830PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GO_termGO:0010467PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Phenotype_assayControl_strainWBStrain00044748Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Treatmentceh-13::gfp as marker of Bγ cell fate syIs145 PS4807 contains the ceh-13::GFP integrated transgene syIs145 that was obtained by microinjection of pMF1 at 10 ng/μl, pBS at 20 ng/μl and unc-119(+) at 40 ng/μl into unc-119(ed4); him-5(e1490) mutant animals.Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GenotypesIys145 [ceh-13::GFP]Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
WBPhenotype:0001305Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkadult male has rudimentary ectopic hooks; very hard to score (ES1)Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES1_Very_hard_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001414Paper_evidenceWBPaper00000762
Person_evidenceWBPerson261
Curator_confirmedWBPerson2021
WBPerson712
Remarkmale mating is completely abolishedPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
PenetranceHighPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
RecessivePaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
EQ_annotationsLife_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
Phenotype_assayGenotypehim-5(e1467)Paper_evidenceWBPaper00000762
Curator_confirmedWBPerson2021
WBPhenotype:0001487Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
RemarksyIs45 expressed in Bδ (abnormal spicule development)Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0008451PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GO_termGO:0048608PATO:0000460Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Phenotype_assayControl_strainWBStrain00044748Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Treatmentceh-13::gfp as marker of Bγ cell fate syIs145 PS4807 contains the ceh-13::GFP integrated transgene syIs145 that was obtained by microinjection of pMF1 at 10 ng/μl, pBS at 20 ng/μl and unc-119(+) at 40 ng/μl into unc-119(ed4); him-5(e1490) mutant animals.Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
GenotypesIys145 [ceh-13::GFP]Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Phenotype_not_observedWBPhenotype:0000717Paper_evidenceWBPaper00032994
Curator_confirmedWBPerson2021
RemarkMutants showed wildtype dat-1::gfp expressionPaper_evidenceWBPaper00032994
Curator_confirmedWBPerson2021
Phenotype_assayGenotypevtIs1 (dat-1::gfp;rol6)Paper_evidenceWBPaper00032994
Curator_confirmedWBPerson2021
WBPhenotype:0001060Paper_evidenceWBPaper00003955
Curator_confirmedWBPerson712
WBPhenotype:0001061Paper_evidenceWBPaper00003955
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005670PATO:0000460Paper_evidenceWBPaper00003955
Curator_confirmedWBPerson712
ReferenceWBPaper00027035
WBPaper00035553
WBPaper00032994
WBPaper00013779
WBPaper00012430
WBPaper00000762
WBPaper00014073
WBPaper00013862
WBPaper00003955
MethodSubstitution_allele