WormBase Tree Display for Variation: WBVar00143992

WBVar00143992 Evidence: Paper_evidence: WBPaper00006370
    Person_evidence: WBPerson625
  Name: Public_name: e1417
    Other_name: F36H1.4h.2:c.56-209C>T
      F36H1.4b.1:c.56-209C>T
      F36H1.4g.1:c.56-203C>T
      F36H1.4d.1:c.56-209C>T
      F36H1.4b.3:c.56-209C>T
      F36H1.4c.1:c.56-203C>T
      F36H1.4h.1:c.56-209C>T
      F36H1.4a.1:c.56-203C>T
      F36H1.4b.2:c.56-209C>T
      F36H1.4f.1:c.56-209C>T
    HGVSg: CHROMOSOME_IV:g.11059196C>T
  Sequence_details: SMap: S_parent: Sequence: F36H1
    Flanking_sequences: tgctggttttttcttgtgac ctgaaaactgtacacacaggtg
    Mapping_target: F36H1
    Type_of_mutation: Substitution: C T Person_evidence: WBPerson625
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004330
      WBStrain00026836
      WBStrain00040217
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00002992
    Transcript: F36H1.4g.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4g.1:c.56-203C>T
        Intron_number: 4/13
      F36H1.4b.3 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4b.3:c.56-209C>T
        Intron_number: 2/10
      F36H1.4d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4d.1:c.56-209C>T
        Intron_number: 3/13
      F36H1.4f.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4f.1:c.56-209C>T
        Intron_number: 1/10
      F36H1.4b.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4b.1:c.56-209C>T
        Intron_number: 3/12
      F36H1.4c.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4c.1:c.56-203C>T
        Intron_number: 4/13
      F36H1.4a.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4a.1:c.56-203C>T
        Intron_number: 4/13
      F36H1.4h.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4h.2:c.56-209C>T
        Intron_number: 3/12
      F36H1.4h.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4h.1:c.56-209C>T
        Intron_number: 4/13
      F36H1.4b.2 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F36H1.4b.2:c.56-209C>T
        Intron_number: 4/13
    Interactor: WBInteraction000009223
      WBInteraction000500498
      WBInteraction000524354
      WBInteraction000524526
      WBInteraction000538539
      WBInteraction000538543
      WBInteraction000556184
  Isolation: Mutagen: EMS
    Forward_genetics: standard phenotypic screen
  Genetics: Interpolated_map_position: IV 4.82035
    Mapping_data: In_multi_point: 117
        382
        383
        603
        678
        774
        1135
        1137
      In_pos_neg_data: 834
        970
  Description: Phenotype: WBPhenotype:0000219 Paper_evidence: WBPaper00031110
        Curator_confirmed: WBPerson712
        Remark: Underinduced animals (worms with fewer than three VPCs induced) were detected. Paper_evidence: WBPaper00031110
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00031110
              Curator_confirmed: WBPerson712
      WBPhenotype:0000698 Paper_evidence: WBPaper00000762
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: 16 percent of Vul hermaphrodites have a single ventral protrusion Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
          adult hermaphrodite vulvaless (penetrance 89%); adult male wildtype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
          Range: 89 89 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000195 Paper_evidence: WBPaper00005809
        Curator_confirmed: WBPerson2987
        Remark: Table 3 Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
          "In contrast to the results with an unc-5 hypomorphic allele, the frequency of DTC migration defects of an unc-5 null allele was not significantly increased by any of the mutations in genes encoding growth factor-like molecules that we examined (Table 3)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: unc-5(e152) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
            unc-5(e53) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001278 Paper_evidence: WBPaper00057074
        Curator_confirmed: WBPerson712
        Remark: neurons did not show a loss in unc-25::GFP expression Paper_evidence: WBPaper00057074
            Curator_confirmed: WBPerson712
        Image: WBPicture0000014913 Paper_evidence: WBPaper00057074
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005027 PATO:0000460 Paper_evidence: WBPaper00057074
                Curator_confirmed: WBPerson712
            WBbt:0005021 PATO:0000460 Paper_evidence: WBPaper00057074
                Curator_confirmed: WBPerson712
  Reference (13)
  Remark: N2 tgctggttttttcttgtgaccctgaaaactgtacacacaggtg
  Method: Substitution_allele