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WormBase Tree Display for Variation: WBVar00091811

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Name Class

WBVar00091811NamePublic_nameok524
Other_nameT01C8.1c.1:c.301_591-57del
T01C8.1b.1:c.487_777-57del
T01C8.1a.1:c.487_777-57del
HGVSgCHROMOSOME_X:g.16800225_16800632del
Sequence_detailsSMapS_parentSequenceT01C8
Flanking_sequencesgtcatcagtacaccttctgacattttcatgtagaaatccaattaaagtaattgaacaaga
Mapping_targetT01C8
Type_of_mutationDeletion
PCR_productOK524_external
OK524_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00000096
WBStrain00007674
WBStrain00007693
WBStrain00026437
WBStrain00026544
WBStrain00030637
WBStrain00031468
WBStrain00034665
WBStrain00056770
LaboratoryRB
EN
PersonWBPerson46
KO_consortium_allele
StatusLive
AffectsGeneWBGene00020142
TranscriptT01C8.1b.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1b.1:c.487_777-57del
cDNA_position487-?
CDS_position487-?
Protein_position163-?
Intron_number3/10
Exon_number3/11
T01C8.1c.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1c.1:c.301_591-57del
cDNA_position344-?
CDS_position301-?
Protein_position101-?
Intron_number3/10
Exon_number3/11
T01C8.1a.1VEP_consequencesplice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScT01C8.1a.1:c.487_777-57del
cDNA_position489-?
CDS_position487-?
Protein_position163-?
Intron_number4/11
Exon_number4/12
InteractorWBInteraction000052905
WBInteraction000500819
WBInteraction000503041
WBInteraction000520355
WBInteraction000521811
WBInteraction000524514
WBInteraction000524918
WBInteraction000524919
WBInteraction000524983
WBInteraction000524984
WBInteraction000524985
WBInteraction000524986
WBInteraction000524987
WBInteraction000524988
WBInteraction000524989
WBInteraction000524990
WBInteraction000525060
WBInteraction000525062
WBInteraction000525065
WBInteraction000525303
WBInteraction000525304
WBInteraction000525305
WBInteraction000525318
WBInteraction000525319
WBInteraction000525320
WBInteraction000525321
WBInteraction000525322
WBInteraction000525323
WBInteraction000525324
WBInteraction000525332
WBInteraction000525333
WBInteraction000525334
WBInteraction000525335
WBInteraction000525336
WBInteraction000525337
WBInteraction000525338
WBInteraction000532888
WBInteraction000535446
WBInteraction000535451
IsolationMutagenUV/TMP
GeneticsMapping_dataIn_multi_point5059
DescriptionPhenotypeWBPhenotype:0000018Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Remarkaak-2(ok524) mutants exhibited an increased pharyngeal pumping rate (Figure S1C)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000023Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkWhile both wild type and aak-2 deficient animals became paralyzed with increasing doses of exogenous serotonin, aak-2 mutants were more sensitive to paralyzing effects of high doses of serotonin, consistent with the notion that these mutants already experience elevated serotonin signaling (Figure S1B).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
aak-2 mutants were more sensitive to deleterious effects of elevated 5-HT, such that elevating the dose of exogenous 5-HT beyond 10 mM had a feeding reducing effect accompanied by other signs of sickness (Figure S1C).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004929Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000026Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
RemarkIn a daf-2(e1370) mutant background, aak-2(ok524) causes dauer animals to exhibit reduced lipid content, as determined by Sudan Black staining, four days after the dauer larval molt (compare Figures 2c and 2d; also Figure 2k). Expression of the aak-2 cDNA in the hypodermis using the dpy-7 promoter can rescue the lipid depleted phenotype (Figure 2g).Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00020821
WBTransgene00020822
Phenotype_assayTreatmentDauer larva were stained with Sudan Black to visualize lipid contentPaper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Genotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
WBPhenotype:0000041Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remark8-day-old aak-2(ok524);daf-2(e1370) double mutant dauers exhibited fluid or fluid-filled vesicles in the body cavity, suggestive of defective osmoregulation (Figure 3c, bottom panel), a defect not seen in daf-2(e1370) dauersPaper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
WBPhenotype:0000114Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkThe aak-2(ok524) mutation resulted in significant changes in mRNA levels for several metabolic genes, as determined by qRT-PCR (Figure S1D, Table S1)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000125Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
RemarkIn the daf-2(e1370) mutant background, the aak-2(ok524) mutation results in increased lipase activity (Figure 2l)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFor the lipase assay, dauers (day 0) were homogenized in a 20% glycerol, 0.1M KCl, 20mM HEPES (pH 7.6) buffer essentially as previously described. Lipase activity was quantified with a commercially-available QuantiChrom kit from BioAssay Systems according to the manufacturer's recommendations.Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Genotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
WBPhenotype:0000127Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkThe aak-2(ok524) mutation resulted in premature exit from the dauer state, compared to controls (Figure 4A); rescue in Figure 6APaper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
The aak-2(ok524) mutation resulted in premature exit from the dauer state, compared to controls (Figure 4B)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00021188
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
daf-7(e1372)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000462Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Remarkaak-2 mutant worms showed hypersensitivity to paraquatPaper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
Affected_byMoleculeWBMol:00002747Paper_evidenceWBPaper00031692
Curator_confirmedWBPerson2021
WBPhenotype:0000631Paper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
RemarkLower age pigments in aak-2(ok524) mutants treated with 50 mM metformin vs. controls. Nile Red staining was unaffectedPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
WBPhenotype:0001171Paper_evidenceWBPaper00041842
WBPaper00049105
Curator_confirmedWBPerson2987
RemarkTable SIII; note that this conflicts with data in Table 2 reporting that aak-2(ok524) does not significantly affect life spanPaper_evidenceWBPaper00041842
Curator_confirmedWBPerson2987
"To test a function of mitochondrial stress signaling in tumor survival during starvation, we used mutants in this signaling pathway, prdx-2(gk169) and aak-2(ok425). After induction of tumor formation by gld-1 RNAi, we performed life span analysis either under feeding (aak-2 and prdx-2; Figure 9B and S6A) or starvation conditions (aak-2 only; Figs 9C and S6B)... Notably, life span under feeding in animals with tumors depends on both aak-2 and prdx-2 function (Fig 9B), whereas starvation-induced life span extension is not affected in the aak-2 mutant (Fig 9C), consistent with recent findings."Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
"Moreover, glucose restriction by DOG only extends life span in wild-type animals but not in aak-2 mutants (Fig 9C)"Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004845Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFeeding conditionsPaper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Fasting conditions and treated with 2-deoxy-D-glucose (DOG)Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Genotypegld-1(RNAi)Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
WBPhenotype:0001183Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkTo determine whether loss of aak-2 mimics the effects of elevated serotonin on fat, authors assessed fat content using the fluorescent BODIPY-labeled fatty acids and biochemical measurement of triacylglycerides, both of which indicated that aak-2 mutants had reduced fat compared to wild type (Figure 1B-C). To verify these results, authors used Coherent anti-Stokes Raman Scattering, CARS, a label free microscopic method for the assessment of fat levels. The CARS results corroborated the noted fat reduction upon aak-2 inactivation and 5 mM serotonin treatment (Figure 1D-E). Moreover, the notion that aak-2 mutants have particularly low fat levels in their skin-like hypodermal tissues, a result readily suggested by treatment of these mutants with BODIPY-labeled fatty acids (Figure 1B), was corroborated by CARS (Figure 1E).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Multiple independent methods of assessing fat levels vita staining with BODIPY-labeled fatty acids, fixed staining with Sudan Black B, and total lipid extraction followed by thin layer chromatography, Coherent anti-Stokes Raman Scattering, CARS all showed significant reductions in lipid levels in daf-2;aak-2 relative to daf-2 mutants, both prior to and at the time of dauer entry (Figure 3, S5, S6).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Multiple independent methods of assessing fat levels vital staining with BODIPY-labeled fatty acids, fixed staining with Sudan Black B, and total lipid extraction followed by thin layer chromatography all showed significant reductions in lipid levels in daf-7;aak-2 relative to daf-7 mutants, both prior to and at the time of dauer entry (Figure 3, S5).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00021186
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
daf-7(e1372)Paper_evidenceWBPaper00045372
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_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Remarkaak-2 deficient animals had reduced movement rate off-food (Figure 1A)Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00021186
WBPhenotype:0001513Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkLoss of aak-2 increased accumulation of the DAF-28::mCherry reporter (Figure 5B, 5D, S7C) and the DAF-7::mCherry reporter (Figure S7A) in coelomocytes.Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0001838Paper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
RemarkMetformin-induced SKN-1::GFP nuclear localization is strongly AMPK-dependent: in the aak-2(ok524) mutant background, metformin treatment no longer induces nuclear SKN-1::GFP accumulationPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
WBPhenotype:0001871Paper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
RemarkUnlike wildtype, metformin treatment decreased mid-life viability in aak-2 mutants in a dose-dependent mannerPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
WBPhenotype:0001872Paper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
RemarkUnlike wildtype, metformin treatment reduced locomotory ability in aak-2 mutant strainsPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
Variation_effectNullPaper_evidenceWBPaper00035656
Curator_confirmedWBPerson2021
WBPhenotype:0001989Paper_evidenceWBPaper00034694
Curator_confirmedWBPerson2857
Remarkanimals enter into hypoxia-induced reproductive and developmental diapause in 5000 ppm oxygen, whereas wild-type animals continue development in this conditionPaper_evidenceWBPaper00034694
Curator_confirmedWBPerson2857
WBPhenotype:0002267Paper_evidenceWBPaper00035277
Curator_confirmedWBPerson2987
RemarkFigure S12cPaper_evidenceWBPaper00035277
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were stained with Mitotracker Deep Red 633 to visualize intestinal mitochondriaPaper_evidenceWBPaper00035277
Curator_confirmedWBPerson2987
WBPhenotype:0002269Paper_evidenceWBPaper00032396
WBPaper00045372
Curator_confirmedWBPerson2987
RemarkIn the daf-2(e1370) mutant background, the aak-2(ok524) mutation results in increased oxygen consumption (Figure 2m)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
aak-2 mutants exhibited elevated rates of oxygen consumption relative to wild type animals (Figure 1F).Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
WBPhenotype:0002276Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remarkaak-2(ok524);daf-2(e1370) double mutant animals exhibited a significantly reduced dauer life span compared to control daf-2(e1370) mutant animals (Table 1, Figure 1b)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
aak-2(ok524) mutants exhibited a significantly reduced dauer life span compared to wild type (N2) controls (Figure 1b)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
aak-2(ok524);daf-7(e1372) double mutant animals exhibited a significantly reduced dauer life span compared to control daf-7(e1372) mutant animals (Figure 1b)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Rescued_by_transgeneWBTransgene00020806
WBTransgene00020807
WBTransgene00020808
WBTransgene00020809
WBTransgene00020810
WBTransgene00020811
WBTransgene00020812
WBTransgene00020813
WBTransgene00020814
WBTransgene00020821
WBTransgene00020822
WBTransgene00020828
WBTransgene00020829
WBTransgene00020830
WBTransgene00020831
WBTransgene00020832
WBTransgene00020833
Phenotype_assayTreatmentC. elegans were synchronized and plated at 25 degrees Celsius. Three days later, ~10 dauer larvae were randomly picked into a 20 microliter drop of double-distilled water suspended under a Petri dish cover. A wet tissue was placed in the bottom of the dish to maintain humidity, and the plate was sealed with Parafilm. Dauer longevity was monitored daily, and survival was scored as moving response upon exposure to a focused beam of 425-440 nm light.Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
C. elegans dauer formation was induced at 15 degrees Celsius by crowding/starvation. ~10 dauer larvae were randomly picked into a 20 microliter drop of double-distilled water suspended under a Petri dish cover. A wet tissue was placed in the bottom of the dish to maintain humidity, and the plate was sealed with Parafilm. Dauer longevity was monitored daily, and survival was scored as moving response upon exposure to a focused beam of 425-440 nm light. Dauer life span was assayed at 25 degrees Celsius.Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Temperature25Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Genotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
daf-7(e1372)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
WBPhenotype:0002281Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remark4-day-old daf-2(e1370);aak-2(ok524) double mutant dauers exhibit a hypersensitivity to osmotic stress (high concentrations of sodium chloride (NaCl)) compared to 4-day-old daf-2(e1370) dauers (Figure 3b). Also, addition of NaCl (20mM and 50mM) to plates resulted in reduced dauer lifespan of daf-2(e1370);aak-2(ok524) double mutant dauers compared to daf-2(e1370) dauers (Figure 3d).Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003571Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_not_observedWBPhenotype:0000039Paper_evidenceWBPaper00041842
WBPaper00049105
Curator_confirmedWBPerson2987
RemarkTable 2; note that this conflicts with data in Table SIII reporting that aak-2(ok524) results in a significantly reduced life spanPaper_evidenceWBPaper00041842
Curator_confirmedWBPerson2987
"To test a function of mitochondrial stress signaling in tumor survival during starvation, we used mutants in this signaling pathway, prdx-2(gk169) and aak-2(ok425). After induction of tumor formation by gld-1 RNAi, we performed life span analysis either under feeding (aak-2 and prdx-2; Figure 9B and S6A) or starvation conditions (aak-2 only; Figs 9C and S6B)... Notably, life span under feeding in animals with tumors depends on both aak-2 and prdx-2 function (Fig 9B), whereas starvation-induced life span extension is not affected in the aak-2 mutant (Fig 9C), consistent with recent findings."Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentFasting conditionsPaper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
Genotypegld-1(RNAi)Paper_evidenceWBPaper00049105
Curator_confirmedWBPerson2987
WBPhenotype:0000114Paper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
RemarkmRNA levels of tph-1 and aak-1 (Figure S3), as well as daf-7, daf-28, and ser-5 (Figure S7B) were not affected by the aak-2(ok524) mutationPaper_evidenceWBPaper00045372
Curator_confirmedWBPerson2987
WBPhenotype:0000876Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Remarkaak-2(ok524) animals do not exhibit changes in response to osmotic stress (high concentrations of sodium chloride (NaCl)) compared to wild type controls (Figure 3a)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
aak-2(ok524) animals do not exhibit changes in response to osmotic stress (high concentrations of sodium chloride (NaCl)) in a daf-2(e1370) mutant background (Figure 3a)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003571Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
Phenotype_assayGenotypedaf-2(e1370)Paper_evidenceWBPaper00032396
Curator_confirmedWBPerson2987
ReferenceWBPaper00041842
WBPaper00035656
WBPaper00035277
WBPaper00034694
WBPaper00031692
WBPaper00032396
WBPaper00025901
WBPaper00045372
WBPaper00049105
WBPaper00061997
WBPaper00064980
WBPaper00064979
WBPaper00065359
WBPaper00065265
WBPaper00065271
WBPaper00065803
WBPaper00065845
WBPaper00066013
RemarkSequenced by the C. elegans Gene Knockout ConsortiumPaper_evidenceWBPaper00041807
MethodKO_consortium_allele