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WormBase Tree Display for Variation: WBVar00087953

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Name Class

WBVar00087953EvidencePaper_evidenceWBPaper00004762
NamePublic_nameia4
Other_nameia04Paper_evidenceWBPaper00031883
F38A6.3a.1:c.21-128_682-247del
F38A6.3d.1:c.21-128_682-247del
F38A6.3b.1:c.21-128_682-247del
HGVSgCHROMOSOME_V:g.20781187_20782417del
Sequence_detailsSMapS_parentSequenceCHROMOSOME_V
Flanking_sequencesctcctcctactccacctttgaaaaaataaaagagaagtagagaagcacaagcacatgcaa
Mapping_targetCHROMOSOME_V
Type_of_mutationDeletion
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (19)
LaboratoryZG
HistoryAcquires_mergeWBVar00087952
StatusLive
AffectsGeneWBGene00001851
TranscriptF38A6.3e.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number1-3/7
Exon_number1-3/8
F38A6.3b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF38A6.3b.1:c.21-128_682-247del
Intron_number2-5/10
Exon_number3-5/11
F38A6.3d.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF38A6.3d.1:c.21-128_682-247del
Intron_number2-5/11
Exon_number3-5/12
F38A6.3a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
VEP_impactHIGH
HGVScF38A6.3a.1:c.21-128_682-247del
Intron_number2-5/10
Exon_number3-5/11
F38A6.3f.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number1-3/7
Exon_number1-3/8
Interactor (23)
IsolationMutagenEMS
GeneticsInterpolated_map_positionV25.1943
Mapping_dataIn_multi_point4401
DescriptionPhenotype (30)
Phenotype_not_observedWBPhenotype:0000112Paper_evidenceWBPaper00048983
Curator_confirmedWBPerson2987
Remark"We similarly found little change in global translation when hif-1(ia04) mutant animals, which are also sensitive to H2S, were exposed to 50 ppm H2S (Fig. 2C)."Paper_evidenceWBPaper00048983
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00004296Paper_evidenceWBPaper00048983
Curator_confirmedWBPerson2987
WBPhenotype:0000497Paper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
RemarkNo significant change in embryonic lethality in hif-1(ia4) mutants compared to wild-type worms after IRPaper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
WBPhenotype:0000520Paper_evidenceWBPaper00042557
Curator_confirmedWBPerson712
RemarkLoss-of-function of hif-1 did not lead to any detectable phenotype.Paper_evidenceWBPaper00042557
Curator_confirmedWBPerson712
WBPhenotype:0000712Paper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
RemarkNo significant change in germ cell death in hif-1(ia4) mutants compared to wild-type worms after IRPaper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
WBPhenotype:0001278Paper_evidenceWBPaper00043917
Curator_confirmedWBPerson2987
Remark"We therefore tested paraquat-induced expression of hsp-6::gfp in loss-of-function mutants of skn-1(zu67), daf-16(mu86) and hif-1(ia4). We found that none of the mutants prevented the induction of hsp-6 upon 0.5 mM paraquat exposure (Figure 5). This suggests that the response to paraquat triggers a pathway that does not require the transcription factors SKN-1, DAF-16 and HIF-1, and probably also not the pathways in which these factors are effectors namely the cytosolic stress response, insulin signaling, and the heat shock response."Paper_evidenceWBPaper00043917
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00002747Paper_evidenceWBPaper00043917
Curator_confirmedWBPerson2987
WBPhenotype:0001326Paper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
RemarkNo significant change in germ cell death in hif-1(ia4) mutants compared to wild-type worms after IRPaper_evidenceWBPaper00036343
Curator_confirmedWBPerson2021
WBPhenotype:0001380Paper_evidenceWBPaper00037959
Curator_confirmedWBPerson712
Remarkhif-1(ia04) mutant animals did not show a lower survival rate in the Anaerolcult A mini culture than wild-type ones.Paper_evidenceWBPaper00037959
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00005312Paper_evidenceWBPaper00037959
Curator_confirmedWBPerson712
WBPhenotype:0001381Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
Remarkhif-1(ia4) mutant worms were not resistant to anoxia exposure when fed a glucose-supplemented diet (Figure S1C)Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003916Paper_evidenceWBPaper00046527
Curator_confirmedWBPerson2987
WBPhenotype:0001765Paper_evidenceWBPaper00031935
Curator_confirmedWBPerson712
RemarkAnimals showed carbon dioxide avoidance similar to wild-type animals.Paper_evidenceWBPaper00031935
Curator_confirmedWBPerson712
Phenotype_assayTreatmentStrains were maintained at 22C. Animals were exposed to a 5% to 0% CO2 gradient.Paper_evidenceWBPaper00031935
Curator_confirmedWBPerson712
WBPhenotype:0002060Paper_evidenceWBPaper00035580
Curator_confirmedWBPerson2987
Remark"When fed Cry21A , hif-1 ( ia04 ) animals have a response that is indistinguishable from wild-type animals ( Figure 2B ; Table 1 ) ."Paper_evidenceWBPaper00035580
Curator_confirmedWBPerson2987
Disease_infoModels_diseaseDOID:162
Models_disease_in_annotationWBDOannot00000595
Reference (26)
Remarkia4 is a 1,231 bp deletion of exons 2,3 and 4 of hif-1. This introduces a frameshift and premature stop in the mutant mRNA. Deletion endpoints are not specified in the paper and so have been estimated from Figure 1.Paper_evidenceWBPaper00004762
Curator_confirmedWBPerson1971
MethodDeletion_allele