WormBase Tree Display for Variation: WBVar00090320
expand all nodes | collapse all nodes | view schema
WBVar00090320 | Evidence | Paper_evidence | WBPaper00003948 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n1994 | |||||||
Other_name | CE28360:p.Arg102Ter | ||||||||
Y41D4B.13a.1:c.304C>T | |||||||||
HGVSg | CHROMOSOME_IV:g.1597623C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y41D4B | |||||
Flanking_sequences | attccggcgttgttgaatcattttaaaatg | gagttttgactgaggcaagcctgctggccg | |||||||
Mapping_target | Y41D4B | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00027171 | ||||||||
WBStrain00040546 | |||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00000416 | |||||||
Transcript | Y41D4B.13a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | Y41D4B.13a.1:c.304C>T | ||||||||
HGVSp | CE28360:p.Arg102Ter | ||||||||
cDNA_position | 306 | ||||||||
CDS_position | 304 | ||||||||
Protein_position | 102 | ||||||||
Exon_number | 2/5 | ||||||||
Codon_change | Cga/Tga | ||||||||
Amino_acid_change | R/* | ||||||||
Interactor | WBInteraction000051414 | ||||||||
WBInteraction000051415 | |||||||||
WBInteraction000517320 | |||||||||
WBInteraction000517321 | |||||||||
WBInteraction000517343 | |||||||||
WBInteraction000517344 | |||||||||
WBInteraction000520138 | |||||||||
WBInteraction000521808 | |||||||||
WBInteraction000521814 | |||||||||
WBInteraction000557027 | |||||||||
Genetics | Interpolated_map_position | IV | -16.6601 | ||||||
Description | Phenotype | WBPhenotype:0000241 | Paper_evidence | WBPaper00032272 | |||||
WBPaper00003948 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals accumulated germ cell as well as embryonic cell corpses. | Paper_evidence | WBPaper00032272 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032272 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 15, 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000243 | Paper_evidence | WBPaper00031805 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | No enrichment of DYN-1 adjacent to the apoptotic cell in mutant worms deficient for corpse internalization, suggesting that DYN-1 is recruited at a stage following corpse recognition and internalization | Paper_evidence | WBPaper00031805 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000301 | Paper_evidence | WBPaper00003948 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Distal tip cells did not follow a typical path, resulting in gonad arms that exhibited inappropriate turns, twists, or positions with in the body cavity. | Paper_evidence | WBPaper00003948 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Paper_evidence | WBPaper00003948 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000885 | Paper_evidence | WBPaper00001438 | |||||||
WBPaper00032272 | |||||||||
WBPaper00038317 | |||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | Failure to engulf cell corpses | Paper_evidence | WBPaper00001438 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Only a small amount of germ-cell corpses were labeled by acridine orange in contrast to wild-type animals where cell corpses were rapidly engulfed and were 70% AO-positive. | Paper_evidence | WBPaper00032272 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Persistent cell corpses accumulate. | Paper_evidence | WBPaper00038317 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Complete | Paper_evidence | WBPaper00001438 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive | Paper_evidence | WBPaper00001438 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032272 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0003681 | PATO:0000460 | Paper_evidence | WBPaper00001438 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0003666 | PATO:0000460 | Paper_evidence | WBPaper00001438 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Maternal | |||||||||
Phenotype_assay | Temperature | 15, 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0002408 | Paper_evidence | WBPaper00041869 | |||||||
Curator_confirmed | WBPerson3772 | ||||||||
WBPhenotype:0010004 | Paper_evidence | WBPaper00032272 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Only a small amount of germ-cell corpses were labeled by acridine orange in contrast to wild-type animals where cell corpses were rapidly engulfed and were 70% AO-positive. | Paper_evidence | WBPaper00032272 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032272 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 15, 25 | Paper_evidence | WBPaper00032272 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_not_observed | WBPhenotype:0000047 | Paper_evidence | WBPaper00040757 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | 0/6 gastrulation defect/total embryos | Paper_evidence | WBPaper00040757 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000188 | Paper_evidence | WBPaper00003948 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Gonadal arms were as long as those in wild-type animals; germ cells were organized properly as well. | Paper_evidence | WBPaper00003948 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000631 | Paper_evidence | WBPaper00035198 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). | Paper_evidence | WBPaper00035198 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00035198 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00004251 | Paper_evidence | WBPaper00035198 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001656 | Paper_evidence | WBPaper00003948 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Initiating and maintaining a trajectory is normal. | Paper_evidence | WBPaper00003948 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00038317 | ||||||||
WBPaper00040757 | |||||||||
WBPaper00041869 | |||||||||
WBPaper00031805 | |||||||||
WBPaper00001438 | |||||||||
WBPaper00032272 | |||||||||
WBPaper00003948 | |||||||||
WBPaper00035198 | |||||||||
Method | Substitution_allele |