WormBase Tree Display for Variation: WBVar00241035
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WBVar00241035 | Evidence | Paper_evidence | WBPaper00003410 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | q223 | |||||||
Other_name (2) | |||||||||
HGVSg | CHROMOSOME_III:g.9954696G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | K03H1 | |||||
Flanking_sequences | gtcggagaaacaggatcaggaaaaacaact | agttggcacaatacctacttgaagatggat | |||||||
Mapping_target | K03H1 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00003410 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00022549 | ||||||||
Laboratory | JK | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003389 | |||||||
Transcript | K03H1.2.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | K03H1.2.1:c.1417C>T | ||||||||
HGVSp | CE01027:p.Gln473Ter | ||||||||
cDNA_position | 1420 | ||||||||
CDS_position | 1417 | ||||||||
Protein_position | 473 | ||||||||
Exon_number | 4/9 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | III | 1.35299 | ||||||
Mapping_data | In_2_point | 6121 | |||||||
In_multi_point | 1670 | ||||||||
Description | Phenotype | WBPhenotype:0000052 | Paper_evidence | WBPaper00001710 | |||||
Curator_confirmed | WBPerson502 | ||||||||
Remark | Table 6 | Paper_evidence | WBPaper00001710 | ||||||
Curator_confirmed | WBPerson502 | ||||||||
WBPhenotype:0000385 | Paper_evidence | WBPaper00001883 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | XX mog mutant adults produce two to five times the normal number of sperm | Paper_evidence | WBPaper00001883 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001883 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000683 | Paper_evidence | WBPaper00001883 | |||||||
WBPaper00003410 | |||||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
WBPerson502 | |||||||||
Remark | Germ cells that would normally become oocytes have been transformed into sperm instead | Paper_evidence | WBPaper00001883 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
hermaphrodite germline makes 300-500 sperm, no oocytes; q223/Df similar | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
homozygotes have a masculinized germline | Paper_evidence | WBPaper00003410 | |||||||
Curator_confirmed | WBPerson502 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001883 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001360 | Paper_evidence | WBPaper00001883 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001883 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000399 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | no somatic defects; q223/Df similar | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001675 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | males WT, q223/Df similar | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00001883 | ||||||||
WBPaper00001710 | |||||||||
WBPaper00003410 | |||||||||
WBPaper00015490 | |||||||||
Method | Substitution_allele |