WormBase Tree Display for Variation: WBVar00252161

WBVar00252161 Name: Public_name: tm3489
    Other_name: C32D5.9.1:c.113_287del
      CE01849:p.Lys38ArgfsTer41
    HGVSg: CHROMOSOME_II:g.6347400_6347574del
  Sequence_details: SMap: S_parent: Sequence: C32D5
    Flanking_sequences: taaatgaaaataaacgactggttagttacc ttggtgctttctcaacaatcactggaatac
    Mapping_target: C32D5
    Source_location: 7 CHROMOSOME_II 6347399 6347575 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm3489_external
      tm3489_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 3489
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00002980
    Transcript: C32D5.9.1 VEP_consequence: frameshift_variant,splice_region_variant
        VEP_impact: HIGH
        HGVSc: C32D5.9.1:c.113_287del
        HGVSp: CE01849:p.Lys38ArgfsTer41
        cDNA_position: 146-320
        CDS_position: 113-287
        Protein_position: 38-96
        Exon_number: 2/4
        Codon_change: aAGTCAAAGCTCCATGACTTGGATAAGAAGAAGTACTTGGTCCCATCCGATCTTACTGTTGGACAGTTCTACTTCCTCATCAGAAAACGCATCCAACTTCGTCCAGAAGATGCTCTGTTCTTCTTTGTCAACAATGTCATTCCACAAACCATGACCACAATGGGACAACTCTACCAg/ag
        Amino_acid_change: KSKLHDLDKKKYLVPSDLTVGQFYFLIRKRIQLRPEDALFFFVNNVIPQTMTTMGQLYQ/X
    Interactor: WBInteraction000501092
      WBInteraction000518437
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype: WBPhenotype:0000054 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
        Remark: Animals die as larva. Paper_evidence: WBPaper00038332
            Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00040312
        Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal or sterile by the National Bioresource Project of Japan. Comment to the NBP from Dr. K. Sato: Science 334, 1141 (2011). Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
          The lgg-1(tm3489) null mutant homozygotes reached adulthood and produced an almost normal number of self-fertilized eggs. However, 36% of the eggs did not hatch and 59% of the embryos hatched but were lethal at the L1 larval stage. Crossing of lgg-1(tm3489) hermaphrodites and wild-type males resulted in viable F1 embryos. Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00040312
                Curator_confirmed: WBPerson712
            WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00040312
                Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
      WBPhenotype:0000241 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: Ex[LGG-1::GFP], due to the instability of Ex arrays, this strain behaves as a genetic mosaic. Paper_evidence: WBPaper00038332
              Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as lethal or sterile by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0000736 Paper_evidence: WBPaper00040387
        Curator_confirmed: WBPerson712
        Remark: In control embryos the number of membranous organelles (MOs) rapidly decreases during the first cell divisions, whereas in mutant embryos, MOs are still present at 100/120-cell stage and do not undergo autophagy. Paper_evidence: WBPaper00040387
            Curator_confirmed: WBPerson712
      WBPhenotype:0001135 Paper_evidence: WBPaper00040387
          WBPaper00040312
        Curator_confirmed: WBPerson712
        Remark: In control embryos the number of membranous organelles (MOs) rapidly decreases during the first cell divisions, whereas in mutant embryos, MOs are still present at 100/120-cell stage. Paper_evidence: WBPaper00040387
            Curator_confirmed: WBPerson712
          Paternal mitochondria persisted. Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
      WBPhenotype:0002122 Paper_evidence: WBPaper00040312
        Curator_confirmed: WBPerson712
        Remark: When hermaphrodites of the lgg-1(tm3489) mutant were mated with MT-labeled wild-type males, paternal mitochondria remained in the embryos beyond the 16-cell stage (n>20). The lgg-1(tm3489) mutation in males did not affect clearance of paternal mitochondria in embryos. Paternal mitochondria were observed as late as at the lima-bean stage but eventually disappeared at later stages. Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00040312
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038332
    WBPaper00040312
    WBPaper00040387
    WBPaper00050047
  Remark: 35389/35390-35564/35565 (175 bp deletion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele