WormBase Tree Display for Variation: WBVar00142941
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| WBVar00142941 | Evidence | Paper_evidence | WBPaper00027361 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e61 | |||||||
| Other_name | e61sd | ||||||||
| F27C1.8.1:c.607G>T | |||||||||
| CE09720:p.Gly203Ter | |||||||||
| HGVSg | CHROMOSOME_I:g.5432445C>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F27C1 | |||||
| Flanking_sequences | ccaggacttgctggaccaccaggacgcgat | gacttaccggaaagggacaaccaggagtcg | |||||||
| Mapping_target | F27C1 | ||||||||
| Type_of_mutation | Substitution | g | t | Paper_evidence | WBPaper00027361 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000065 | ||||||||
| WBStrain00000418 | |||||||||
| WBStrain00000471 | |||||||||
| WBStrain00000478 | |||||||||
| WBStrain00003970 | |||||||||
| WBStrain00003975 | |||||||||
| WBStrain00004089 | |||||||||
| WBStrain00004368 | |||||||||
| WBStrain00004373 | |||||||||
| WBStrain00004383 | |||||||||
| WBStrain00004390 | |||||||||
| WBStrain00004485 | |||||||||
| WBStrain00004633 | |||||||||
| WBStrain00004957 | |||||||||
| WBStrain00004983 | |||||||||
| WBStrain00005015 | |||||||||
| WBStrain00005021 | |||||||||
| WBStrain00005501 | |||||||||
| WBStrain00005538 | |||||||||
| WBStrain00005542 | |||||||||
| WBStrain00005543 | |||||||||
| WBStrain00006182 | |||||||||
| WBStrain00006183 | |||||||||
| WBStrain00006203 | |||||||||
| WBStrain00006216 | |||||||||
| WBStrain00006219 | |||||||||
| WBStrain00006226 | |||||||||
| WBStrain00006233 | |||||||||
| WBStrain00006247 | |||||||||
| WBStrain00006258 | |||||||||
| WBStrain00006261 | |||||||||
| WBStrain00006262 | |||||||||
| WBStrain00006263 | |||||||||
| WBStrain00006264 | |||||||||
| WBStrain00006413 | |||||||||
| WBStrain00006665 | |||||||||
| WBStrain00007169 | |||||||||
| WBStrain00007264 | |||||||||
| WBStrain00007277 | |||||||||
| WBStrain00007331 | |||||||||
| WBStrain00007580 | |||||||||
| WBStrain00007734 | |||||||||
| WBStrain00007737 | |||||||||
| WBStrain00007738 | |||||||||
| WBStrain00007985 | |||||||||
| WBStrain00007986 | |||||||||
| WBStrain00007987 | |||||||||
| WBStrain00008014 | |||||||||
| WBStrain00008021 | |||||||||
| WBStrain00008442 | |||||||||
| WBStrain00008460 | |||||||||
| WBStrain00022478 | |||||||||
| WBStrain00022479 | |||||||||
| WBStrain00022499 | |||||||||
| WBStrain00022537 | |||||||||
| WBStrain00022541 | |||||||||
| WBStrain00022553 | |||||||||
| WBStrain00022558 | |||||||||
| WBStrain00022568 | |||||||||
| WBStrain00022569 | |||||||||
| WBStrain00022576 | |||||||||
| WBStrain00022582 | |||||||||
| WBStrain00022586 | |||||||||
| WBStrain00022592 | |||||||||
| WBStrain00022676 | |||||||||
| WBStrain00023657 | |||||||||
| WBStrain00023658 | |||||||||
| WBStrain00023659 | |||||||||
| WBStrain00023660 | |||||||||
| WBStrain00023661 | |||||||||
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| WBStrain00023664 | |||||||||
| WBStrain00023666 | |||||||||
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| WBStrain00023774 | |||||||||
| WBStrain00023777 | |||||||||
| WBStrain00023779 | |||||||||
| WBStrain00023780 | |||||||||
| WBStrain00023784 | |||||||||
| WBStrain00023787 | |||||||||
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| WBStrain00023791 | |||||||||
| WBStrain00023792 | |||||||||
| WBStrain00023794 | |||||||||
| WBStrain00023798 | |||||||||
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| WBStrain00023800 | |||||||||
| WBStrain00023801 | |||||||||
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| WBStrain00023803 | |||||||||
| WBStrain00023805 | |||||||||
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| WBStrain00026847 | |||||||||
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| WBStrain00027045 | |||||||||
| WBStrain00027088 | |||||||||
| WBStrain00027263 | |||||||||
| WBStrain00027269 | |||||||||
| WBStrain00027279 | |||||||||
| WBStrain00027334 | |||||||||
| WBStrain00027345 | |||||||||
| WBStrain00027389 | |||||||||
| WBStrain00028755 | |||||||||
| WBStrain00030675 | |||||||||
| WBStrain00033500 | |||||||||
| WBStrain00033517 | |||||||||
| WBStrain00033905 | |||||||||
| WBStrain00034126 | |||||||||
| WBStrain00034439 | |||||||||
| WBStrain00034653 | |||||||||
| WBStrain00040032 | |||||||||
| WBStrain00040214 | |||||||||
| WBStrain00040443 | |||||||||
| WBStrain00040929 | |||||||||
| WBStrain00040930 | |||||||||
| WBStrain00040931 | |||||||||
| WBStrain00049794 | |||||||||
| WBStrain00054788 | |||||||||
| WBStrain00055739 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00001067 | |||||||
| Transcript | F27C1.8.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F27C1.8.1:c.607G>T | ||||||||
| HGVSp | CE09720:p.Gly203Ter | ||||||||
| cDNA_position | 607 | ||||||||
| CDS_position | 607 | ||||||||
| Protein_position | 203 | ||||||||
| Exon_number | 1/1 | ||||||||
| Codon_change | Gga/Tga | ||||||||
| Amino_acid_change | G/* | ||||||||
| Interactor | WBInteraction000052055 | ||||||||
| WBInteraction000052058 | |||||||||
| WBInteraction000501358 | |||||||||
| WBInteraction000501364 | |||||||||
| WBInteraction000519055 | |||||||||
| WBInteraction000537293 | |||||||||
| WBInteraction000537294 | |||||||||
| Genetics | Interpolated_map_position | I | -0.0011509 | ||||||
| Mapping_data | In_2_point (165) | ||||||||
| In_multi_point (349) | |||||||||
| In_pos_neg_data (72) | |||||||||
| Description | Phenotype | WBPhenotype:0000072 | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "Scanning electron micrograph (SEM) analysis of this strain revealed that dpy-5 mutant nematodes have a relatively normal head morphology; however, the mid-body and tail regions were markedly shorter and fatter than their wild-type counterparts (Fig. 3A)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000420 | Paper_evidence | WBPaper00061220 | |||||||
| Curator_confirmed | WBPerson3900 | ||||||||
| Remark | Enhanced susceptibility to levamisole (Figure 3K) | Paper_evidence | WBPaper00061220 | ||||||
| Curator_confirmed | WBPerson3900 | ||||||||
| Affected_by | Molecule | WBMol:00004019 | Paper_evidence | WBPaper00061220 | |||||
| Curator_confirmed | WBPerson3900 | ||||||||
| WBPhenotype:0000424 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "This ability of a mutation in one collagen to affect others was further confirmed for the non-stage-specific collagen DPY-7, after costaining of the TP14:dpy-5(e61)I;kaIs12(col-19::gfp) strain with the DPY-7 monoclonal antibodies (Fig. 3C, red). In the dorsal/ventral hypodermal cells, DPY-7 localized in a regular but constricted pattern that corresponded to the annular furrows (Fig. 3C, denoted an) and was similar to the COL-19::GFP patterns observed in wild-type and in dpy-5 mutants. Conversely, in the matrix overlying the lateral seam cell cords, DPY-7 expression was abnormal: the DPY-7 staining pattern appeared broken (Fig. 3C, denoted by double-headed arrow) and generally deviated from the wildtype staining pattern in which both annuli (COL-19) and annular furrows (DPY-7) normally extend to appose the lateral ala (Fig. 1C)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000583 | Paper_evidence | WBPaper00000031 | |||||||
| WBPaper00005747 | |||||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| WBPerson2987 | |||||||||
| Remark | strong dumpy; early larvae non-dumpy; e61/+ is very slightly dumpy | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Authors report "strong dpy" (Table 1); "It is interesting to note that the annuli overlying the ventral and dorsal hypodermis are present but differ markedly from wild-type nematodes (Fig. 1E, double-headed arrows) in that they do not oppose the lateral alae (Fig. 3A,E, double-headed arrows). As a result, the cuticle above the lateral hypodermal seam cell cords, having failed to contract normally, is extended, and this results in the characteristic Dpy phenotype." | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Semi_dominant | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000679 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "In some areas corresponding to the seam cell cords, large vesicles are evident and the tagged protein is found concentrated at the periphery of these structures (Fig. 3D), perhaps indicating a failure in the complete secretion of COL-19::GFP." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000948 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "By using a hypodermal junction-specific monoclonal antibody, MH27 (Francis and Waterston, 1985), we were able to confirm that the hypodermal seam cells were relatively normal in dpy-5(e61) mutant nematodes, whereas the overlying cuticle was abnormal (supplementary Fig. II, F, available online at www.interscience.wiley.com/developmentaldynamics/suppmat/index.html)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0000961 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "When the strain TP14:dpy-5(e61) I;kaIs12(col-19::gfp), resulting from crossing TP12:kaIs(col-19::gfp) with the dpy-5(e61) mutant, was examined under epifluorescence, the ala, apparent by means of Nomarski imaging (Fig. 3E), were shown to express COL-19::GFP in a variable manner (Fig. 3B, arrowed). In addition, two distinct regions became apparent: a region overlying the dorsal/ventral hypodermal cells, which showed annuli fluorescing as distinct bands as observed in wildtype TP12:kaIs(col-19::gfp) worms (Fig. 3B-D, denoted an), and a second, extended region of disruption overlying the seam cell cords (Fig. 3B-D, double-headed arrows)... The region of dominant COL-19::GFP mutant expression and disruption overlying the lateral seam cell hypodermis has a complex fibrous and broken appearance (Fig. 3B-D, double-headed arrows)... These data show that mutation of the DPY-5 collagen in these nematodes is sufficient to alter the expression patterns of the COL-19::GFP collagen." | 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 "multiple or discontinuous ala" (Table 1); "The region of dominant COL-19::GFP mutant expression and disruption overlying the lateral seam cell hypodermis has a complex fibrous and broken appearance (Fig. 3B-D, double-headed arrows)." | 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); "The disrupted region did not have the characteristic annuli and instead appeared featureless when viewed by Nomarski microscopy (Fig. 3E, double-headed arrow). The regular annular fluorescence did appear more closely packed than in wildtype nematodes (Fig. 3B-D, denoted an), having a periodicity of approximately 0.75 μm compared with 1.2 μm, respectively, an observation consistent with the shorter length of these adult nematodes." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
| Curator_confirmed | WBPerson2987 | ||||||||
| WBPhenotype:0001621 | Paper_evidence | WBPaper00053771 | |||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Remark | Hypersensitive to the reactive small molecule and prooxidant juglone. | Paper_evidence | WBPaper00053771 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000071 | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "Scanning electron micrograph (SEM) analysis of this strain revealed that dpy-5 mutant nematodes have a relatively normal head morphology; however, the mid-body and tail regions were markedly shorter and fatter than their wild-type counterparts (Fig. 3A)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| 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 | 20C | Paper_evidence | WBPaper00001328 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | him-5(e1490) | Paper_evidence | WBPaper00001328 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000901 | Paper_evidence | WBPaper00040002 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | mutation has no effect on gland morphology | Paper_evidence | WBPaper00040002 | ||||||
| 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 | ||||||||
| WBPhenotype:0002176 | Paper_evidence | WBPaper00005747 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | "By using a hypodermal junction-specific monoclonal antibody, MH27 (Francis and Waterston, 1985), we were able to confirm that the hypodermal seam cells were relatively normal in dpy-5(e61) mutant nematodes, whereas the overlying cuticle was abnormal (supplementary Fig. II, F, available online at www.interscience.wiley.com/developmentaldynamics/suppmat/index.html)." | Paper_evidence | WBPaper00005747 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Reference (45) | |||||||||
| Remark | Variation stub/paper connection generated from the May 2021 NN VFP dataset. | ||||||||
| Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||||||
| Method | Substitution_allele |
