WormBase Tree Display for Variation: WBVar00144371
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| WBVar00144371 | Evidence | Person_evidence | WBPerson260 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1865 | |||||
| Other_name | ZK112.2g.1:c.2134C>T | ||||||
| CE50144:p.Gln840Ter | |||||||
| CE50320:p.Gln831Ter | |||||||
| ZK112.2c.1:c.2491C>T | |||||||
| ZK112.2g.3:c.2134C>T | |||||||
| CE50296:p.Gln774Ter | |||||||
| ZK112.2e.1:c.2329C>T | |||||||
| CE50175:p.Gln828Ter | |||||||
| ZK112.2h.1:c.2143C>T | |||||||
| ZK112.2f.1:c.2320C>T | |||||||
| CE50238:p.Gln715Ter | |||||||
| ZK112.2b.1:c.2527C>T | |||||||
| ZK112.2g.2:c.2134C>T | |||||||
| ZK112.2a.1:c.2518C>T | |||||||
| CE50327:p.Gln843Ter | |||||||
| CE50121:p.Gln777Ter | |||||||
| CE00373:p.Gln712Ter | |||||||
| ZK112.2d.1:c.2482C>T | |||||||
| HGVSg | CHROMOSOME_III:g.7735874C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | ZK112 | |||
| Flanking_sequences | atcattttcgatatgttcggcaacatcttg | aaaagttctcatgctctcgctatctcgagt | |||||
| Mapping_target | ZK112 | ||||||
| Type_of_mutation | Substitution | c | t | Person_evidence | WBPerson260 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00000861 | ||||||
| WBStrain00000862 | |||||||
| WBStrain00000863 | |||||||
| WBStrain00000864 | |||||||
| WBStrain00000865 | |||||||
| WBStrain00000866 | |||||||
| WBStrain00000867 | |||||||
| WBStrain00000868 | |||||||
| WBStrain00000869 | |||||||
| WBStrain00000870 | |||||||
| WBStrain00000871 | |||||||
| WBStrain00000872 | |||||||
| WBStrain00000873 | |||||||
| WBStrain00000874 | |||||||
| WBStrain00000875 | |||||||
| WBStrain00000876 | |||||||
| WBStrain00000877 | |||||||
| WBStrain00000878 | |||||||
| WBStrain00000879 | |||||||
| WBStrain00000880 | |||||||
| WBStrain00000881 | |||||||
| WBStrain00000882 | |||||||
| WBStrain00000883 | |||||||
| WBStrain00000884 | |||||||
| WBStrain00000885 | |||||||
| WBStrain00000886 | |||||||
| WBStrain00000887 | |||||||
| WBStrain00000888 | |||||||
| WBStrain00000889 | |||||||
| WBStrain00000890 | |||||||
| WBStrain00000891 | |||||||
| WBStrain00000892 | |||||||
| WBStrain00000893 | |||||||
| WBStrain00000894 | |||||||
| WBStrain00000895 | |||||||
| WBStrain00000896 | |||||||
| WBStrain00000897 | |||||||
| WBStrain00000898 | |||||||
| WBStrain00000899 | |||||||
| WBStrain00000900 | |||||||
| WBStrain00000901 | |||||||
| WBStrain00000902 | |||||||
| WBStrain00000903 | |||||||
| WBStrain00000904 | |||||||
| WBStrain00000905 | |||||||
| WBStrain00000906 | |||||||
| WBStrain00000907 | |||||||
| WBStrain00000908 | |||||||
| WBStrain00000909 | |||||||
| WBStrain00000910 | |||||||
| WBStrain00000911 | |||||||
| WBStrain00000912 | |||||||
| WBStrain00000913 | |||||||
| WBStrain00003974 | |||||||
| WBStrain00004005 | |||||||
| WBStrain00004483 | |||||||
| WBStrain00007477 | |||||||
| WBStrain00007478 | |||||||
| WBStrain00007983 | |||||||
| WBStrain00007984 | |||||||
| WBStrain00022526 | |||||||
| WBStrain00026695 | |||||||
| WBStrain00027300 | |||||||
| WBStrain00028775 | |||||||
| WBStrain00030874 | |||||||
| WBStrain00034377 | |||||||
| WBStrain00034378 | |||||||
| WBStrain00034379 | |||||||
| WBStrain00034390 | |||||||
| WBStrain00034391 | |||||||
| WBStrain00034395 | |||||||
| WBStrain00034396 | |||||||
| WBStrain00034401 | |||||||
| WBStrain00034416 | |||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00003559 | |||||
| Transcript | ZK112.2g.3 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2g.3:c.2134C>T | ||||||
| HGVSp | CE00373:p.Gln712Ter | ||||||
| cDNA_position | 2268 | ||||||
| CDS_position | 2134 | ||||||
| Protein_position | 712 | ||||||
| Exon_number | 9/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2f.1:c.2320C>T | ||||||
| HGVSp | CE50296:p.Gln774Ter | ||||||
| cDNA_position | 2320 | ||||||
| CDS_position | 2320 | ||||||
| Protein_position | 774 | ||||||
| Exon_number | 9/10 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2h.1:c.2143C>T | ||||||
| HGVSp | CE50238:p.Gln715Ter | ||||||
| cDNA_position | 2143 | ||||||
| CDS_position | 2143 | ||||||
| Protein_position | 715 | ||||||
| Exon_number | 8/9 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2d.1:c.2482C>T | ||||||
| HGVSp | CE50175:p.Gln828Ter | ||||||
| cDNA_position | 2482 | ||||||
| CDS_position | 2482 | ||||||
| Protein_position | 828 | ||||||
| Exon_number | 10/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2g.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2g.2:c.2134C>T | ||||||
| HGVSp | CE00373:p.Gln712Ter | ||||||
| cDNA_position | 2499 | ||||||
| CDS_position | 2134 | ||||||
| Protein_position | 712 | ||||||
| Exon_number | 11/13 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2e.1:c.2329C>T | ||||||
| HGVSp | CE50121:p.Gln777Ter | ||||||
| cDNA_position | 2329 | ||||||
| CDS_position | 2329 | ||||||
| Protein_position | 777 | ||||||
| Exon_number | 9/10 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2g.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2g.1:c.2134C>T | ||||||
| HGVSp | CE00373:p.Gln712Ter | ||||||
| cDNA_position | 2365 | ||||||
| CDS_position | 2134 | ||||||
| Protein_position | 712 | ||||||
| Exon_number | 10/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2c.1:c.2491C>T | ||||||
| HGVSp | CE50320:p.Gln831Ter | ||||||
| cDNA_position | 2491 | ||||||
| CDS_position | 2491 | ||||||
| Protein_position | 831 | ||||||
| Exon_number | 10/11 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2a.1:c.2518C>T | ||||||
| HGVSp | CE50144:p.Gln840Ter | ||||||
| cDNA_position | 2580 | ||||||
| CDS_position | 2518 | ||||||
| Protein_position | 840 | ||||||
| Exon_number | 12/14 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK112.2b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK112.2b.1:c.2527C>T | ||||||
| HGVSp | CE50327:p.Gln843Ter | ||||||
| cDNA_position | 2527 | ||||||
| CDS_position | 2527 | ||||||
| Protein_position | 843 | ||||||
| Exon_number | 11/13 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Interactor | WBInteraction000518814 | ||||||
| Genetics | Interpolated_map_position | III | -0.626159 | ||||
| Mapping_data | In_2_point | 670 | |||||
| In_multi_point (11) | |||||||
| Description | Phenotype | WBPhenotype:0000463 | Paper_evidence | WBPaper00049471 | |||
| Curator_confirmed | WBPerson664 | ||||||
| WBPhenotype:0000722 | Paper_evidence | WBPaper00041268 | |||||
| Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPerson18350 | |||||||
| Remark | abnormal large nucleoli in all cells | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Figure 5, enlarged nucleoli | Paper_evidence | WBPaper00041268 | |||||
| Curator_confirmed | WBPerson18350 | ||||||
| Figure 5, abnormal presence of nucleoli at the 4-cell stage | Paper_evidence | WBPaper00041268 | |||||
| Curator_confirmed | WBPerson18350 | ||||||
| Ease_of_scoring | ES1_Very_hard_to_score | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Phenotype_not_observed | WBPhenotype:0000113 | Paper_evidence | WBPaper00032132 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Animals have similar levels of rRNA to wild-type as determined from L1-staged animals. | Paper_evidence | WBPaper00032132 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032132 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference (16) | |||||||
| Method | Substitution_allele |
