WormBase Tree Display for Variation: WBVar00143150
expand all nodes | collapse all nodes | view schema
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 (196) | ||||||||
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 (46) | |||||||
In_multi_point (90) | ||||||||
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 (2) | ||||||||
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 (2) | ||||||||
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 (5) | ||||||||
Reference (22) | ||||||||
Method | Substitution_allele |