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WormBase Tree Display for Variation: WBVar00143034

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Name Class

WBVar00143034EvidencePaper_evidenceWBPaper00026866
NamePublic_namee204
Other_nameY37E11C.1b.1:c.640G>A
Y37E11C.1c.1:c.172G>A
CE31638:p.Asp214Asn
CE31639:p.Asp58Asn
CE21557:p.Asp389Asn
Y37E11C.1a.1:c.1165G>A
HGVSgCHROMOSOME_IV:g.3523049G>A
Sequence_detailsSMapS_parentSequenceM57
Flanking_sequencesgcgggaaagctcgcccttcccgccggaatcatgtctacactcaggtcaccgattcttccg
Mapping_targetM57
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00026866
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004126
WBStrain00004805
WBStrain00006231
WBStrain00022503
WBStrain00023477
WBStrain00027172
WBStrain00047174
WBStrain00047179
WBStrain00047186
WBStrain00047188
WBStrain00047189
WBStrain00047194
WBStrain00047196
LaboratoryCB
StatusLive
AffectsGeneWBGene00006769
TranscriptY37E11C.1c.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen1probably_damaging
HGVScY37E11C.1c.1:c.172G>A
HGVSpCE31639:p.Asp58Asn
cDNA_position172
CDS_position172
Protein_position58
Exon_number2/4
Codon_changeGat/Aat
Amino_acid_changeD/N
Y37E11C.1b.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen1probably_damaging
HGVScY37E11C.1b.1:c.640G>A
HGVSpCE31638:p.Asp214Asn
cDNA_position640
CDS_position640
Protein_position214
Exon_number4/6
Codon_changeGat/Aat
Amino_acid_changeD/N
Y37E11C.1a.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen1probably_damaging
HGVScY37E11C.1a.1:c.1165G>A
HGVSpCE21557:p.Asp389Asn
cDNA_position1165
CDS_position1165
Protein_position389
Exon_number8/11
Codon_changeGat/Aat
Amino_acid_changeD/N
InteractorWBInteraction000569521
GeneticsInterpolated_map_positionIV-3.30051
Mapping_dataIn_2_point99
448
484
1643
3276
In_multi_point98
99
127
337
464
465
907
923
924
3059
3073
3184
3185
DescriptionPhenotypeWBPhenotype:0000180Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkamphid, phasmid, PDE, PVP axons abnormalPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0005391PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0005425PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006747PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBbt:0006832PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000181Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons are posteriorly misdirected and never reach the nerve ringPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceLowPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Range99Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000583Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkdumpyishPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000643Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0000644Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkvery slowPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES3_Easy_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000880Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkmultiple defects in axonogenesisPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001224Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
RemarkHSN axons show ventral blocks (failure to extend ventrally from their cell bodies to the ventral cord) and anterior blocks (axons enter the ventral cord normally but fail to complete the anterior growth towards the nerve ring)Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
PenetranceIncomplete20 percent of mutants have ventral blocks and 62 percent have anterior blocksPaper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0006830PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
Life_stageWBls:0000057PATO:0000460Paper_evidenceWBPaper00001105
Curator_confirmedWBPerson2021
WBPhenotype:0001329Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarktends to curlPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001588Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkabnormally abundant neuronal microtubulesPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003679PATO:0000460Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001661Paper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
RemarkAWC specific str-2 expression Is altered: str-2 was expressed in either 0, 1, or 2 AWC cells in mutantsPaper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
EQ_annotationsAnatomy_termWBbt:0005672PATO:0000460Paper_evidenceWBPaper00003760
Curator_confirmedWBPerson2021
WBPhenotype:0002521Paper_evidenceWBPaper00049389
Curator_confirmedWBPerson30255
EQ_annotationsGO_termGO:0005921PATO:0000470Paper_evidenceWBPaper00049389
Curator_confirmedWBPerson30255
WBPhenotype:0002535Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkweak FITC uptakePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000351Paper_evidenceWBPaper00060038
Curator_confirmedWBPerson2987
Remark"As expected for a negative control, the empty feeding vector (L4440) fed to either wildtype or unc-33(e204) homozygous animals showed a low level of lethality, 3.4% and 9.3% on average, respectively. These data were not significantly different from each other in a pairwise comparison (p=0.872)."Paper_evidenceWBPaper00060038
Curator_confirmedWBPerson2987
Phenotype_assayStrainWBStrain00004126Paper_evidenceWBPaper00060038
Curator_confirmedWBPerson2987
Control_strainWBStrain00000001Paper_evidenceWBPaper00060038
Curator_confirmedWBPerson2987
WBPhenotype:0000436Paper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
RemarkMutants showed normal localization of SNB-1::VENUS in the RIA neuron.Paper_evidenceWBPaper00040857
Curator_confirmedWBPerson712
WBPhenotype:0000679Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
RemarkPKD-2::GFP localization is not different from wild type.Paper_evidenceWBPaper00028448
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6 and gcy-7 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6, otIs3Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
ReferenceWBPaper00040857
WBPaper00028448
WBPaper00000031
WBPaper00006052
WBPaper00004883
WBPaper00001105
WBPaper00003760
WBPaper00016121
WBPaper00016002
WBPaper00013783
WBPaper00016258
WBPaper00010044
WBPaper00049389
WBPaper00060038
MethodSubstitution_allele