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WormBase Tree Display for Variation: WBVar00142936

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Name Class

WBVar00142936EvidencePaper_evidenceWBPaper00005582
NamePublic_namee53
Other_name (13)
HGVSgCHROMOSOME_IV:g.5499260C>T
Sequence_detailsSMapS_parentSequenceB0273
Flanking_sequencesttgatggaggatggagttcatggagtgattgagtgcttgctcttcgagttgtcatcggta
Mapping_targetB0273
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (49)
LaboratoryCB
StatusLive
AffectsGeneWBGene00006745
TranscriptB0273.4f.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4f.1:c.62G>A
HGVSpCE49300:p.Trp21Ter
cDNA_position62
CDS_position62
Protein_position21
Exon_number1/4
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4e.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4e.1:c.347G>A
HGVSpCE49455:p.Trp116Ter
cDNA_position347
CDS_position347
Protein_position116
Exon_number2/5
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4c.1:c.932G>A
HGVSpCE16791:p.Trp311Ter
cDNA_position932
CDS_position932
Protein_position311
Exon_number6/10
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4a.1:c.848G>A
HGVSpCE16790:p.Trp283Ter
cDNA_position850
CDS_position848
Protein_position283
Exon_number6/10
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4d.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4d.2:c.524G>A
HGVSpCE49241:p.Trp175Ter
cDNA_position528
CDS_position524
Protein_position175
Exon_number4/8
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4b.1:c.848G>A
HGVSpCE37693:p.Trp283Ter
cDNA_position848
CDS_position848
Protein_position283
Exon_number5/6
Codon_changetGg/tAg
Amino_acid_changeW/*
B0273.4d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScB0273.4d.1:c.524G>A
HGVSpCE49241:p.Trp175Ter
cDNA_position727
CDS_position524
Protein_position175
Exon_number5/9
Codon_changetGg/tAg
Amino_acid_changeW/*
Interactor (26)
GeneticsInterpolated_map_positionIV1.757
Mapping_dataIn_2_point93
104
118
820
1649
3270
3378
3729
6088
7050
In_multi_point (47)
In_pos_neg_data3700
DescriptionPhenotypeWBPhenotype:0000004Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000181Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
RemarkMutation in the unc-5 gene results in premature termination of both the dorsal and sub-ventral process of the NSM neurons: 26% of the dorsal processes are short and 13% are absentPaper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0003666PATO:0000460Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
Phenotype_assayGenotypezdIs13 [ tph-1p::GFP]Paper_evidenceWBPaper00031671
Curator_confirmedWBPerson2021
WBPhenotype:0000188Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormal gonad armsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000195Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
PenetranceIncompletePaper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
Variation_effectNullPaper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0006865PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00005809
Curator_confirmedWBPerson2987
WBPhenotype:0000384Paper_evidenceWBPaper00032163
WBPaper00040147
WBPaper00031828
WBPaper00040041
Curator_confirmedWBPerson712
RemarkHalf of animals exhibited DA9 axon guidance defects. Axon guidance defects in VD and DD neurons were not enhnaced by expression of UNC-5 at the L4 larval stage.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
Mutants displayed a nearly complete failure of dorsally directed VD axons to reach the dorsal cord.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
Animals exhibit dorsal guidance defects.Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
DD and VD axon guidance defects were not suppressed by acetylcholine.Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004765Paper_evidenceWBPaper00040041
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00032163
WBPaper00040147
WBPaper00040041
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00032163
WBPaper00040041
Curator_confirmedWBPerson712
WBbt:0005274PATO:0000460Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
WBbt:0005278PATO:0000460Paper_evidenceWBPaper00031828
Curator_confirmedWBPerson712
Phenotype_assayTreatment25Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
Genotypeunc-5::intron::unc-5Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0000516Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdistribution of cell bodies in ventral cord is disorganizedPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000539Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdorsal nerve cord absent or almost absentPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006750PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000540Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkmuscle arms misdirectedPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000541Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkcord commissures fail to reach targetsPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000565Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarksevere coiler, L1 also severe coilerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00040147
WBPaper00045955
Curator_confirmedWBPerson712
WBPerson557
RemarkBranch defects scored in PLM neuron.Paper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
PenetranceLowPaper_evidenceWBPaper00045955
Curator_confirmedWBPerson557
EQ_annotationsAnatomy_termWBbt:0005303PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBbt:0005270PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00000031
WBPaper00001019
Curator_confirmedWBPerson48
WBPerson712
Variation_effectNullPaper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000672Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
RemarkThe average number of GFP::RAB-3 puncta in the DA9 axon was reduced.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004857PATO:0000460Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0000802Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkdorsal hypodermal cells abnormalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0007846PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000847Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
RemarkPresynaptic components, such as RAB-3, SNB-1/synaptobrevin and SNG-1/synaptogyrin, the L-type voltage gated calcium channel b-subunit CCB-1, and the active zone protein SYD-2/a-liprin were mislocalized to the dendrite. Mislocalization defects in L1 and adult animals were rescued by a mig-5::unc-5 transgene and not unc-25::unc-5 or unc-129::unc-5 transgenes.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0004857PATO:0000460Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0000880Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
RemarkALA axon mispositionedPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
EQ_annotationsAnatomy_termWBbt:0003955PATO:0000460Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
GO_termGO:0030424PATO:0000628Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
WBPhenotype:0000882Paper_evidenceWBPaper00032163
WBPaper00056066
Curator_confirmedWBPerson712
WBPerson18979
RemarkThe localization of four dendritically localized proteins (CAM-1/ROR16, UNC-9/innexin, F35D2.3/fibrillin and DYS-1/dystrophin16) were unaffected.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
PVD 1° dendrite branch mispositionedPaper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
EQ_annotationsAnatomy_termWBbt:0004857PATO:0000460Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBbt:0006831PATO:0000460Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
GO_termGO:0044307PATO:0000628Paper_evidenceWBPaper00056066
Curator_confirmedWBPerson18979
WBPhenotype:0001224Paper_evidenceWBPaper00038105
WBPaper00003665
Curator_confirmedWBPerson712
RemarkDA and DB axons are misrouted and fail to fully migrate to the dorsal cord. In some animals, axons fail to exit the ventral cord.Paper_evidenceWBPaper00038105
Curator_confirmedWBPerson712
99% of animals showed wild-type ASI amphid neuron outgrowth. Mutants also showed lateral axon outgrowth (1%).Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
PenetranceLow1%Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005666PATO:0000460Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
Phenotype_assayGenotypekyIs128[str-3::GFP]Paper_evidenceWBPaper00003665
Curator_confirmedWBPerson712
WBPhenotype:0001801Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
RemarkPresynaptic components such as RAB-3, calcium channel subunits and other active zone proteins are not excluded from DA9 dendrites as they are in control animals.Paper_evidenceWBPaper00032163
Curator_confirmedWBPerson712
WBPhenotype:0001931Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkAnimals have 4-6 muscle arms per side that project into the lateral space as they extended towards misguided commissural motor axons.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000030Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkgrows wellPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000384Paper_evidenceWBPaper00036484
WBPaper00040147
Curator_confirmedWBPerson712
RemarkThe primary axon of ADL grows into the nerve ring ventrally rather than laterally. This phenotype occurs at a lower frequency than the axon branching phenotype. AVM axons fail to grow ventrally. HSN motor neurons fail to polarize properly.Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
Animals do not exhibit any defects in ventrally-directed HSN axon guidance.Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005661PATO:0000460Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
WBbt:0006830PATO:0000460Paper_evidenceWBPaper00040147
Curator_confirmedWBPerson712
WBPhenotype:0000469Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
Remark"We found that unc-5 mutants also had almost normal Q cell migrations (Fig. 2); thus UNC-5 does not appear to be a part of the UNC-40-dependent Q guidance system."Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
EQ_annotationsAnatomy_termWBbt:0004056PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBbt:0004054PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
GO_termGO:0016477PATO:0000460Paper_evidenceWBPaper00004437
Curator_confirmedWBPerson2987
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ).Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectNullPaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000633Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
RemarkADL projects normal dorsal and ventral branches.Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005661PATO:0000460Paper_evidenceWBPaper00036484
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable 1Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
WBPhenotype:0001652Paper_evidenceWBPaper00032446
Curator_confirmedWBPerson2021
WBPhenotype:0001930Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
RemarkVentral muscle arm extension in animals was indistinguishable from that of wild-type controls.Paper_evidenceWBPaper00032907
Curator_confirmedWBPerson712
Reference (38)
MethodSubstitution_allele