WormBase Tree Display for Variation: WBVar00092136
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WBVar00092136 | Name | Public_name | ok861 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | R07E5.8a.2:c.599+46_1376delinsTCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | |||||||
R07E5.8a.1:c.599+46_1376delinsTCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | ||||||||
HGVSg | CHROMOSOME_III:g.4420642_4422287delinsTCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | |||||||
Sequence_details | SMap | S_parent | Sequence | R07E5 | ||||
Flanking_sequences | taaaattggcgatttttgcgccaaaaatac | tgaccttatcgattgtatgcaattacaaga | ||||||
Mapping_target | R07E5 | |||||||
Type_of_mutation | Insertion | TCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | ||||||
Deletion | ||||||||
PCR_product | ok861_external | |||||||
ok861_internal | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00022650 | |||||||
WBStrain00031674 | ||||||||
Laboratory | RB | |||||||
Person | WBPerson46 | |||||||
KO_consortium_allele | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00000520 | ||||||
Transcript | R07E5.8a.2 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | R07E5.8a.2:c.599+46_1376delinsTCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | |||||||
cDNA_position | ?-1378 | |||||||
CDS_position | ?-1376 | |||||||
Protein_position | ?-459 | |||||||
Intron_number | 5-9/14 | |||||||
Exon_number | 6-10/15 | |||||||
R07E5.8a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R07E5.8a.1:c.599+46_1376delinsTCGATCGATGTCTGCTGCGCACTTAGCATAAGGTTTCCCAAAATTTCGTTGCTCTGATCAAAGATCAAACTACATAGGGATAGAAGGACACGCGCTTTATATAGTAAGTGATTTTTAAATCAATTTTAGAATTTCAGCAATTTTCTTTCGGTTTCACAAGTTTTTTTTGGAAAATAGTCTGAAAATTCGACAAACGATGTTTCAAAGAAAAACTAATGAAACTGTTGTGCAAAATTTTAGATTTTTTAGGAAAACTTAATAATTTTTCAAACGTAAATTCGTAATTACAGTTCTGAGATTTTTGCAGTTAATTTC | |||||||
cDNA_position | ?-1384 | |||||||
CDS_position | ?-1376 | |||||||
Protein_position | ?-459 | |||||||
Intron_number | 5-9/14 | |||||||
Exon_number | 6-10/15 | |||||||
R07E5.8b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
cDNA_position | ?-233 | |||||||
CDS_position | ?-233 | |||||||
Protein_position | ?-78 | |||||||
Intron_number | 1/5 | |||||||
Exon_number | 1-2/6 | |||||||
Isolation | Mutagen | UV/TMP | ||||||
Description | Phenotype | WBPhenotype:0001921 | Paper_evidence | WBPaper00044981 | ||||
Curator_confirmed | WBPerson3353 | |||||||
Phenotype_not_observed | WBPhenotype:0001760 | Paper_evidence | WBPaper00031945 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | MonoG or G-tracts were not deleted at an increased rate as demonstrated by lack of expression of B-galactosidase, which acted as an indicator of a DNA rearrangement bringing a LacZ start codon in-frame with the downstream ORF. No increase in deletion frequency over wild-type was observed for the endogenous qua375 sequence as determined by PCR. At least 24 populations of 5 animals were assayed. | Paper_evidence | WBPaper00031945 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | pkIs2165[pRP1878: hsp-16.41::ATG-(C)23-stops-LacZ unc-119] or pkIs2172 [pRP1889: hsp-16.41::ATG-(monoA)-stops-LacZ unc-119] | Paper_evidence | WBPaper00031945 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00031945 | |||||||
WBPaper00025420 | ||||||||
WBPaper00044981 | ||||||||
WBPaper00064961 | ||||||||
Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | |||||
Method | KO_consortium_allele |