WormBase Tree Display for Variation: WBVar00143888

WBVar00143888 Evidence: Person_evidence: WBPerson3709
  Name: Public_name: e1282
    Other_name: e1282ts
      CE40520:p.Pro354Leu
      T22B3.1.1:c.1061C>T
    HGVSg: CHROMOSOME_IV:g.11697099G>A
  Sequence_details: SMap: S_parent: Sequence: T22B3
    Flanking_sequences: ttctttccaatttcagaaaaactgagcatc agtatgggcattcttcaaacgtaccggaga
    Mapping_target: T22B3
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson3709
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000396
      WBStrain00000397
      WBStrain00000406
      WBStrain00000407
      WBStrain00000409
      WBStrain00000414
      WBStrain00000416
      WBStrain00000417
      WBStrain00003953
      WBStrain00004289
      WBStrain00004509
      WBStrain00004510
      WBStrain00004511
      WBStrain00004583
      WBStrain00004825
      WBStrain00004826
      WBStrain00004829
      WBStrain00004833
      WBStrain00004836
      WBStrain00004837
      WBStrain00005460
      WBStrain00005466
      WBStrain00005468
      WBStrain00005833
      WBStrain00006186
      WBStrain00006265
      WBStrain00007450
      WBStrain00007451
      WBStrain00008016
      WBStrain00008027
      WBStrain00008030
      WBStrain00008039
      WBStrain00008040
      WBStrain00008041
      WBStrain00008042
      WBStrain00008043
      WBStrain00008044
      WBStrain00008045
      WBStrain00008046
      WBStrain00008047
      WBStrain00008048
      WBStrain00008049
      WBStrain00008050
      WBStrain00008445
      WBStrain00008450
      WBStrain00022477
      WBStrain00022482
      WBStrain00023554
      WBStrain00023615
      WBStrain00026499
      WBStrain00026501
      WBStrain00026502
      WBStrain00026507
      WBStrain00026575
      WBStrain00027061
      WBStrain00027132
      WBStrain00027146
      WBStrain00027148
      WBStrain00027151
      WBStrain00027223
      WBStrain00027273
      WBStrain00027368
      WBStrain00027396
      WBStrain00028643
      WBStrain00028645
      WBStrain00028646
      WBStrain00028652
      WBStrain00028654
      WBStrain00028692
      WBStrain00028771
      WBStrain00028948
      WBStrain00028954
      WBStrain00028955
      WBStrain00028956
      WBStrain00028957
      WBStrain00028958
      WBStrain00028959
      WBStrain00028960
      WBStrain00028961
      WBStrain00028962
      WBStrain00028963
      WBStrain00028964
      WBStrain00028965
      WBStrain00028966
      WBStrain00028967
      WBStrain00028968
      WBStrain00028969
      WBStrain00028970
      WBStrain00028971
      WBStrain00028997
      WBStrain00029006
      WBStrain00029027
      WBStrain00029120
      WBStrain00029122
      WBStrain00030574
      WBStrain00030585
      WBStrain00030814
      WBStrain00030815
      WBStrain00030843
      WBStrain00030844
      WBStrain00030846
      WBStrain00030847
      WBStrain00030850
      WBStrain00030853
      WBStrain00030854
      WBStrain00030858
      WBStrain00030859
      WBStrain00030860
      WBStrain00030861
      WBStrain00030871
      WBStrain00030872
      WBStrain00030874
      WBStrain00030876
      WBStrain00030882
      WBStrain00030883
      WBStrain00030938
      WBStrain00033484
      WBStrain00033487
      WBStrain00034110
      WBStrain00034368
      WBStrain00034441
      WBStrain00034706
      WBStrain00035051
      WBStrain00040221
      WBStrain00040569
      WBStrain00040573
      WBStrain00044170
      WBStrain00054744
      WBStrain00054934
      WBStrain00054935
      WBStrain00054936
      WBStrain00054937
      WBStrain00054938
    Laboratory: CB
      MT
      PD
      NL
    Status: Live
  Affects: Gene: WBGene00001079
    Transcript: T22B3.1.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: T22B3.1.1:c.1061C>T
        HGVSp: CE40520:p.Pro354Leu
        cDNA_position: 2090
        CDS_position: 1061
        Protein_position: 354
        Exon_number: 7/9
        Codon_change: cCa/cTa
        Amino_acid_change: P/L
    Interactor: WBInteraction000519994
      WBInteraction000519995
      WBInteraction000519996
      WBInteraction000519997
  Genetics: Interpolated_map_position: IV 5.21445
    Mapping_data: In_2_point: 476
        477
        819
        821
        822
        1639
        1640
        3810
        4238
        4248
        4642
        5205
        7044
        7045
        7048
        7138
      In_multi_point: 592
        593
        595
        598
        603
        763
        764
        765
        766
        767
        768
        770
        772
        774
        777
        779
        910
        912
        913
        914
        915
        1114
        1116
        1117
        1120
        1121
        1122
        1128
        1133
        1262
        1263
        1265
        1267
        1365
        1511
        1514
        1518
        1520
        1521
        1522
        1535
        1537
        1609
        1610
        1611
        1612
        1640
        1743
        1791
        1820
        1822
        1830
        1832
        1910
        1912
        2003
        2006
        2020
        2021
        2022
        2023
        2024
        2067
        2090
        2152
        2153
        2154
        2155
        2156
        2652
        2785
        3131
        3133
        3134
        3135
        3188
        3238
        3240
        3250
        3251
        3270
        3430
        3431
        3437
        3438
        4057
        4058
        5466
        5470
      In_pos_neg_data: 962
        967
        971
        1656
        1657
        1658
        1659
        1660
        3820
        3824
        3846
        3860
        3877
        3885
        3895
        4691
        6736
        6740
        6750
        6755
        6761
        8036
        8037
        8057
        8279
  Description: Phenotype: WBPhenotype:0000322 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: round-nosed (25C) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000583 Paper_evidence: WBPaper00000813
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: medium dumpy (20C), weak dumpy (15C), strong dumpy (25C). TSP during L1 and L2 stages. Easy to score (ES3) at all stages at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001309 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001727 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002290 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002292 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002299 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002346 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000505 Paper_evidence: WBPaper00001328
        Curator_confirmed: WBPerson712
        Remark: Males are not Ram. Paper_evidence: WBPaper00001328
            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
        Phenotype_assay: Temperature: 25C 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 88%(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
  Reference: WBPaper00043908
    WBPaper00029013
    WBPaper00001328
    WBPaper00001011
    WBPaper00015528
    WBPaper00012677
    WBPaper00000813
    WBPaper00014349
    WBPaper00011078
    WBPaper00013987
    WBPaper00015247
    WBPaper00014840
    WBPaper00016536
    WBPaper00017996
    WBPaper00013923
    WBPaper00065340
    WBPaper00065712
    WBPaper00065747
  Method: Substitution_allele