WormBase Tree Display for Variation: WBVar00143150

WBVar00143150 Evidence: Paper_evidence: WBPaper00004203
  Name: Public_name: e364
    Other_name: e364am
      CE20261:p.Trp92Ter
      Y47D3B.10.1:c.275G>A
    HGVSg: CHROMOSOME_III:g.11376127C>T
  Sequence_details: SMap: S_parent: Sequence: Y47D3B
    Flanking_sequences: ataaccccacaaatcttcagatctttgact gaaggagatcgagtcgaaaatgaacgcaaa
    Mapping_target: Y47D3B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004203
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000292
      WBStrain00000419
      WBStrain00000424
      WBStrain00000511
      WBStrain00000512
      WBStrain00000513
      WBStrain00000514
      WBStrain00000515
      WBStrain00000517
      WBStrain00000518
      WBStrain00000519
      WBStrain00000520
      WBStrain00000521
      WBStrain00000522
      WBStrain00000523
      WBStrain00000524
      WBStrain00000525
      WBStrain00000526
      WBStrain00000527
      WBStrain00000528
      WBStrain00000530
      WBStrain00000531
      WBStrain00000535
      WBStrain00000536
      WBStrain00000537
      WBStrain00000538
      WBStrain00000539
      WBStrain00000540
      WBStrain00000543
      WBStrain00000544
      WBStrain00000545
      WBStrain00000546
      WBStrain00000547
      WBStrain00000548
      WBStrain00000549
      WBStrain00000585
      WBStrain00000586
      WBStrain00000587
      WBStrain00000588
      WBStrain00000589
      WBStrain00000590
      WBStrain00000591
      WBStrain00000592
      WBStrain00000593
      WBStrain00000594
      WBStrain00000595
      WBStrain00000596
      WBStrain00000597
      WBStrain00000598
      WBStrain00000599
      WBStrain00000600
      WBStrain00000601
      WBStrain00000602
      WBStrain00000603
      WBStrain00000604
      WBStrain00000605
      WBStrain00000607
      WBStrain00000608
      WBStrain00000609
      WBStrain00000610
      WBStrain00000611
      WBStrain00000612
      WBStrain00000613
      WBStrain00000614
      WBStrain00000615
      WBStrain00000616
      WBStrain00000617
      WBStrain00000618
      WBStrain00000619
      WBStrain00000620
      WBStrain00000621
      WBStrain00000622
      WBStrain00000623
      WBStrain00000624
      WBStrain00000625
      WBStrain00000631
      WBStrain00000632
      WBStrain00000633
      WBStrain00000634
      WBStrain00000635
      WBStrain00000636
      WBStrain00000637
      WBStrain00000638
      WBStrain00000639
      WBStrain00000640
      WBStrain00000641
      WBStrain00000643
      WBStrain00000644
      WBStrain00000645
      WBStrain00000646
      WBStrain00000647
      WBStrain00000648
      WBStrain00000649
      WBStrain00000650
      WBStrain00000651
      WBStrain00000652
      WBStrain00000653
      WBStrain00000654
      WBStrain00000658
      WBStrain00000659
      WBStrain00000676
      WBStrain00000677
      WBStrain00000678
      WBStrain00000679
      WBStrain00000680
      WBStrain00000681
      WBStrain00000682
      WBStrain00000683
      WBStrain00000684
      WBStrain00000685
      WBStrain00000686
      WBStrain00000687
      WBStrain00000688
      WBStrain00000689
      WBStrain00000690
      WBStrain00000691
      WBStrain00000692
      WBStrain00000693
      WBStrain00000694
      WBStrain00000695
      WBStrain00000696
      WBStrain00000697
      WBStrain00000698
      WBStrain00000699
      WBStrain00000700
      WBStrain00000701
      WBStrain00000702
      WBStrain00000703
      WBStrain00000704
      WBStrain00000705
      WBStrain00000706
      WBStrain00000707
      WBStrain00000709
      WBStrain00000710
      WBStrain00000711
      WBStrain00000712
      WBStrain00000713
      WBStrain00000714
      WBStrain00000715
      WBStrain00000716
      WBStrain00000717
      WBStrain00000719
      WBStrain00000720
      WBStrain00000721
      WBStrain00000722
      WBStrain00000723
      WBStrain00000724
      WBStrain00000725
      WBStrain00000726
      WBStrain00000727
      WBStrain00000728
      WBStrain00000729
      WBStrain00000730
      WBStrain00000731
      WBStrain00000732
      WBStrain00000734
      WBStrain00000735
      WBStrain00000736
      WBStrain00000737
      WBStrain00000738
      WBStrain00000739
      WBStrain00000742
      WBStrain00000743
      WBStrain00000744
      WBStrain00000745
      WBStrain00000746
      WBStrain00000747
      WBStrain00000751
      WBStrain00000818
      WBStrain00003974
      WBStrain00003977
      WBStrain00003986
      WBStrain00003988
      WBStrain00003989
      WBStrain00003995
      WBStrain00004154
      WBStrain00004366
      WBStrain00004371
      WBStrain00004388
      WBStrain00004693
      WBStrain00004952
      WBStrain00004954
      WBStrain00004990
      WBStrain00004999
      WBStrain00006185
      WBStrain00007250
      WBStrain00022592
      WBStrain00027198
      WBStrain00027214
      WBStrain00027215
      WBStrain00027382
      WBStrain00033310
      WBStrain00033509
      WBStrain00040749
      WBStrain00040750
      WBStrain00050739
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00001077
    Transcript: Y47D3B.10.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y47D3B.10.1:c.275G>A
        HGVSp: CE20261:p.Trp92Ter
        cDNA_position: 276
        CDS_position: 275
        Protein_position: 92
        Exon_number: 3/9
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000052376
      WBInteraction000537326
      WBInteraction000576800
  Genetics: Interpolated_map_position: III 8.86179
    Mapping_data: In_2_point: 60
        81
        84
        86
        87
        88
        89
        90
        220
        221
        222
        223
        224
        225
        226
        407
        488
        489
        563
        569
        580
        588
        592
        594
        596
        600
        601
        607
        629
        670
        671
        673
        707
        709
        739
        3249
        3678
        4235
        6004
        6005
        6006
        6007
        6016
        6072
        6109
        6112
      In_multi_point: 70
        81
        85
        89
        91
        92
        211
        212
        213
        214
        215
        216
        217
        221
        255
        300
        301
        316
        318
        369
        370
        375
        430
        469
        471
        472
        473
        474
        476
        482
        489
        493
        500
        503
        514
        561
        562
        599
        601
        1081
        1083
        1364
        1406
        1420
        1505
        1510
        1660
        1728
        1735
        1752
        1756
        1757
        1812
        1814
        1815
        1816
        1835
        2027
        2028
        2029
        2116
        2117
        2200
        2201
        2202
        2203
        2204
        2205
        2212
        2235
        2249
        2250
        2306
        2338
        3053
        3054
        3108
        3109
        3111
        3139
        3236
        3237
        3246
        3247
        3248
        3261
        3262
        3263
        3264
        3265
      In_pos_neg_data: 1600
        2153
  Description: Phenotype: WBPhenotype:0000070 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000199 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: The temperature sensitive period for the Ram defect was mid-to late L4 coincident with tail retraction. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
            WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000073 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Homozygous Ram. Males are not Ram at 16C. Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
          Males have abnormal lumpy rays (Ram) at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006941 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001328
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00000031
          WBPaper00001328
          WBPaper00005747
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
          WBPerson2987
        Remark: Medium dumpy. Easy to score (ES3) in adult; difficult to score (ES2) in larvae. ME2. Males have abnormal lumpy rays (Ram) at 25C Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Authors report "medium dpy" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
            kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000961 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001412 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched ala" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001517 Paper_evidence: WBPaper00005747
        Curator_confirmed: WBPerson2987
        Remark: Authors report "abnormal branched annuli (lateral hypodermis)" (Table 1) Paper_evidence: WBPaper00005747
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: kaIs12 [col-19::gfp] Paper_evidence: WBPaper00005747
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001678 Paper_evidence: WBPaper00003994
        Curator_confirmed: WBPerson557
        Remark: There was a significant reduction in the hydroxyproline content of cuticle collagen from dpy-18 (e364) animals compared with wild-type cuticle extracts. Paper_evidence: WBPaper00003994
            Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0000648 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Ray function was not severely disrupted by the morphological defects as most Ram males mated efficiently Paper_evidence: WBPaper00001328
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000695 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001328
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20C Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
          Genotype: him-5(e1490) Paper_evidence: WBPaper00001328
              Curator_confirmed: WBPerson712
      WBPhenotype:0000718 Paper_evidence: WBPaper00001011
        Curator_confirmed: WBPerson712
        Remark: Animals have 77%(n=20) mutant seam cell nuclei, similar to XX lin-14 animals (77% n=40). Paper_evidence: WBPaper00001011
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were raised at 24C. Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
          Temperature: 24 Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
          Genotype: lin-14(n179) Paper_evidence: WBPaper00001011
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001732 Paper_evidence: WBPaper00032033
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited the same pH survival profile as the wild-type strain over a range of pH 3 to pH 10. Paper_evidence: WBPaper00032033
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Mixed or synchronised populations of nematodes were exposed to 500ul M9 buffer (100 mM phosphate, 85 mM NaCl, 1 mM MgSO4 buffered at the appropriate pH by varying KH2PO4 and Na2HPO4 concentrations accordingly) at varying pHs in a 24-well plate format for 4 h (200 nematodes/well). Nematodes were scored as viable by the presence of touch response and pharyngeal pumping. Paper_evidence: WBPaper00032033
              Curator_confirmed: WBPerson712
  Reference: WBPaper00005704
    WBPaper00029020
    WBPaper00029013
    WBPaper00001328
    WBPaper00000031
    WBPaper00004883
    WBPaper00005747
    WBPaper00016554
    WBPaper00032033
    WBPaper00016137
    WBPaper00013833
    WBPaper00016569
    WBPaper00022021
    WBPaper00016092
    WBPaper00013718
    WBPaper00001011
    WBPaper00004203
    WBPaper00013836
    WBPaper00015683
    WBPaper00016363
    WBPaper00015051
    WBPaper00003994
  Method: Substitution_allele