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WormBase Tree Display for Variation: WBVar00146376

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Name Class

WBVar00146376EvidencePaper_evidenceWBPaper00031692
NamePublic_namegt33
Other_nameT01C8.1c.1:c.144_591-16del
T01C8.1a.1:c.330_777-16del
T01C8.1b.1:c.330_777-16del
HGVSgCHROMOSOME_X:g.16800068_16800673del
Sequence_detailsSMapS_parentSequenceT01C8
Flanking_sequencesattttcagttggaatccatgagacaactcaaactttgttttgcaggttgtacgcaggtcc
Mapping_targetT01C8
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00034665
WBStrain00047359
LaboratoryTG
StatusLive
AffectsGeneWBGene00020142
TranscriptT01C8.1b.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1b.1:c.330_777-16del
cDNA_position330-?
CDS_position330-?
Protein_position110-?
Intron_number3/10
Exon_number3/11
T01C8.1c.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1c.1:c.144_591-16del
cDNA_position187-?
CDS_position144-?
Protein_position48-?
Intron_number3/10
Exon_number3/11
T01C8.1a.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1a.1:c.330_777-16del
cDNA_position332-?
CDS_position330-?
Protein_position110-?
Intron_number4/11
Exon_number4/12
InteractorWBInteraction000009106
WBInteraction000525129
IsolationMutagenUV-TMPPaper_evidenceWBPaper00031692
GeneticsInterpolated_map_positionX24.0615
DescriptionPhenotypeWBPhenotype:0000462Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Remarkaak-2 mutant worms showed hypersensitivity to paraquatPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Affected_byMoleculeWBMol:00002747Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0001183Paper_evidenceWBPaper00045710
Curator_confirmedWBPerson2987
RemarkThe aak-2(gt33) mutation resulted in reduced fat content under fasting conditions, as determined by Oil Red O staining (Figure 4D,E)Paper_evidenceWBPaper00045710
Curator_confirmedWBPerson2987
WBPhenotype:0001351Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkThe paraquat treatment-dependent AAK-2 phosphorylation was absent in aak-2(gt33) and aak-2(ok524) wormsPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0001482Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkThe frequency of body bending was reduced by 30% in mutantsPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0001621Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Remarkaak-2 mutant worms showed hypersensitivity to hydrogen peroxidePaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0001858Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkMutants also showed a reduced ability to suppress head oscillations when touched on the anterior sidePaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Phenotype_not_observedWBPhenotype:0000634Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkPharyngeal pumping was unaffected in mutantsPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0000640Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkEgg laying was unaffected in mutantsPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0001702Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
RemarkDirectional reversal of locomotion was unaffected in mutantsPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
ReferenceWBPaper00031692
WBPaper00045710
WBPaper00048494
MethodDeletion_allele