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WormBase Tree Display for Variation: WBVar00248909

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Name Class

WBVar00248909EvidencePerson_evidenceWBPerson625
NamePublic_namesy97
Other_nameZK1067.1a.1:c.3803-1G>T
ZK1067.1b.1:c.3620-1G>T
ZK1067.1c.1:c.3818-1G>T
ZK1067.1d.1:c.3839-1G>T
HGVSgCHROMOSOME_II:g.9206768G>T
Sequence_detailsSMapS_parentSequenceZK1067
Flanking_sequencesttttcacccaacgcattaaaaaagttacttttaaaataataaattttcaagctatccccatcaaatggcgattactacaaccaaccaaacactccttca
Mapping_targetZK1067
Type_of_mutationSubstitutionat
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00022495
WBStrain00030810
WBStrain00030821
LaboratoryPS
AuthorAroian R
Sternberg P
PersonWBPerson625
StatusLive
AffectsGeneWBGene00002299
TranscriptZK1067.1d.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1d.1:c.3839-1G>T
Intron_number19/20
ZK1067.1b.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1b.1:c.3620-1G>T
Intron_number15/15
ZK1067.1c.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1c.1:c.3818-1G>T
Intron_number17/18
ZK1067.1a.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScZK1067.1a.1:c.3803-1G>T
Intron_number18/19
InteractorWBInteraction000000671
WBInteraction000500653
WBInteraction000504224
WBInteraction000524138
WBInteraction000524142
WBInteraction000538578
IsolationMutagenEMS
Forward_geneticsstandard phenotypic screen
GeneticsInterpolated_map_positionII1.09465
DescriptionPhenotypeWBPhenotype:0000006Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPerson712
RemarkEgg laying defect is a consequence of Vul phenotype.Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
Displays intragenic complementation with sy1 for this phenotype, i.e., 53% of sy1/sy97 animals are not Egl.Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson712
PenetranceIncompletePerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
CompletePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPerson712
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPhenotype:0000054Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
PenetranceIncompletePerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
RecessivePerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPhenotype:0000062Paper_evidenceWBPaper00001404
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remark10% viablePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
HighPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000070Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RemarkMale tails displayed various defects.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000216Paper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
Remarkdefect in Bγ cell fate specificationPaper_evidenceWBPaper00035553
Curator_confirmedWBPerson625
EQ_annotationsAnatomy_termWBbt:0007830PATO: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:0000296Paper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPerson712
RemarkSpicules varied from slightly shortened and broken to severely crumpled and disorganized.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceIncompletePerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
CompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPerson712
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
EQ_annotationsAnatomy_termWBbt:0005312PATO:0000460Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000414Paper_evidenceWBPaper00001404
WBPaper00003135
Curator_confirmedWBPerson712
WBPerson2987
RemarkAnimals have 95% wild-type P12 as homozygotes. Animals exhibit more P12-P11 cell transformations when in trans to sy12. The effects of this mutation can be significantly alleviated by maternal gene activity.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
let-23(sy97) resulted in a 44% penetrant P12 to P11 cell fate transformation (Table 1A)Paper_evidenceWBPaper00003135
Curator_confirmedWBPerson2987
PenetranceIncomplete44% penetrancePaper_evidenceWBPaper00003135
Curator_confirmedWBPerson2987
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00003135
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004409PATO:0000460Paper_evidenceWBPaper00001404
WBPaper00003135
Curator_confirmedWBPerson712
WBPerson2987
WBbt:0004410PATO:0000460Paper_evidenceWBPaper00003135
Curator_confirmedWBPerson2987
WBPhenotype:0000443Paper_evidenceWBPaper00001404
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkSpicules varied from slightly shortened and broken to severely crumpled and disorganized.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
abnormal spiculesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005312PATO:0000460Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceLow95% hermaphrodites are fertile (n=22).Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
Phenotype_assayTemperature20Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000692Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RemarkHomozygous males do not produce cross progeny.Paper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
PenetranceCompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
WBPhenotype:0000698Paper_evidenceWBPaper00002375
WBPaper00001404
Person_evidenceWBPerson625
WBPerson261
Curator_confirmedWBPerson1845
WBPerson712
RemarkPhenotype is not suppressed by sy322.Paper_evidenceWBPaper00002375
Curator_confirmedWBPerson712
VulPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
PenetranceIncompletePerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
CompletePaper_evidenceWBPaper00001404
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00001404
Person_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPerson712
Variation_effectHypomorph_reduction_of_functionPerson_evidenceWBPerson625
Curator_confirmedWBPerson1845
WBPhenotype:0000859Paper_evidenceWBPaper00045995
Curator_confirmedWBPerson43879
RemarkFigure 4. G1 delamination defectPaper_evidenceWBPaper00045995
Curator_confirmedWBPerson43879
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00045995
Curator_confirmedWBPerson43879
Phenotype_assayControl_strainWBStrain00000001Paper_evidenceWBPaper00045995
Curator_confirmedWBPerson43879
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
Reference (27)
RemarkIsolated in 1987 as a suppressor of the lin-15(n309) multivulva phenotypePerson_evidenceWBPerson26
alt_det = affects splide acceptor and causes a missolice two nt 3'; thus a frameshift that replaces C-terminal 56 amino acids with 23 novel amino acids mut_det = ag --> aa at splice acceptor of exon 18
MethodSubstitution_allele