Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar00142936

expand all nodes | collapse all nodes | view schema

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_point105
106
371
382
768
770
772
774
776
777
778
798
897
898
905
918
919
921
922
1114
1120
1122
1260
1267
1270
1287
1365
1511
1512
1522
1792
1793
2003
2006
2020
2023
2024
2237
2238
2827
3018
3060
3061
3062
3135
3251
5460
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