WormBase Tree Display for Variation: WBVar00000442
expand all nodes | collapse all nodes | view schema
WBVar00000442 | Evidence | Paper_evidence | WBPaper00024442 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | bc243 | ||||||
Other_name | F55B12.3b.1:c.249+78_787del | |||||||
F55B12.3a.1:c.255+78_793del | ||||||||
HGVSg | CHROMOSOME_V:g.13819804_13820654del | |||||||
Sequence_details | SMap | S_parent | Sequence | F55B12 | ||||
Flanking_sequences | GCGTTGCGGCTAATACACATGCAATAAATTAATATTTGAA | ATGATGATGTCTTGGTGACTGGATCTGACGATAACACTCTT | ||||||
Mapping_target | F55B12 | |||||||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | MD | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00004767 | ||||||
Transcript | F55B12.3b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | F55B12.3b.1:c.249+78_787del | |||||||
cDNA_position | ?-791 | |||||||
CDS_position | ?-787 | |||||||
Protein_position | ?-263 | |||||||
Intron_number | 4-7/12 | |||||||
Exon_number | 5-8/13 | |||||||
F55B12.3a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | F55B12.3a.1:c.255+78_793del | |||||||
cDNA_position | ?-797 | |||||||
CDS_position | ?-793 | |||||||
Protein_position | ?-265 | |||||||
Intron_number | 4-7/12 | |||||||
Exon_number | 5-8/13 | |||||||
Interactor | WBInteraction000521916 | |||||||
Genetics | Interpolated_map_position | V | 5.60656 | |||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00024442 | ||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | Incomplete | penetrance is complete at 20 and 15 deg C | Paper_evidence | WBPaper00024442 | ||||
Curator_confirmed | WBPerson48 | |||||||
Temperature_sensitive | Cold_sensitive | 20 | Paper_evidence | WBPaper00024442 | ||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_assay | Temperature | 25 | Paper_evidence | WBPaper00024442 | ||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000683 | Paper_evidence | WBPaper00024442 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Causes extremely weak masculinization of hermaphrodites. | Paper_evidence | WBPaper00024442 | |||||
Curator_confirmed | WBPerson48 | |||||||
Recessive | Paper_evidence | WBPaper00024442 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00024442 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0001275 | Paper_evidence | WBPaper00024442 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Causes increased lin-12 signaling. | Paper_evidence | WBPaper00024442 | |||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_not_observed | WBPhenotype:0000700 | Paper_evidence | WBPaper00032182 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | No animals exhibited psuedovulvae. | Paper_evidence | WBPaper00032182 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00032182 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00024442 | |||||||
WBPaper00032182 | ||||||||
Method | Deletion_allele |