WormBase Tree Display for Variation: WBVar02145475
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WBVar02145475 | Evidence | Paper_evidence | WBPaper00049287 | |||
---|---|---|---|---|---|---|
Name | Public_name | ea12 | ||||
Other_name | Y39B6A.40b.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
CE34115:p.Ser20LysfsTer33 | ||||||
CE50570:p.Ser20LysfsTer33 | ||||||
Y39B6A.40d.3:c.-80_-78delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | ||||||
Y39B6A.40d.2:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | ||||||
Y39B6A.40d.1:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | ||||||
Y39B6A.40a.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | ||||||
HGVSg | CHROMOSOME_V:g.18981038_18981040delinsCCTATAGGCTGTTGGTCTGAAGCCATGTGAAGCTCCGCTACCATAGGCACCGCATGCGGTACGGTTTCCAGTCATTCTCATCT | |||||
Sequence_details | SMap | S_parent | Sequence | Y39B6A | ||
Flanking_sequences | cacttctcgctgtaatttccgaatccagca | cagatgactacttagaagccctggccgaga | ||||
Mapping_target | Y39B6A | |||||
Type_of_mutation | Insertion | agatgagaatgactggaaaccgtaccgcatgcggtgcctatggtagcggagcttcacatggcttcagaccaacagcctatagg | ||||
Deletion | gct | |||||
SeqStatus | Sequenced | |||||
Variation_type | Engineered_allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00047442 | |||||
WBStrain00048304 | ||||||
Laboratory | QP | |||||
Production_method | CRISPR_Cas9 | |||||
Status | Live | |||||
Affects | Gene | WBGene00012698 | ||||
Transcript | Y39B6A.40d.1 | VEP_consequence | 5_prime_UTR_variant | |||
VEP_impact | MODIFIER | |||||
HGVSc | Y39B6A.40d.1:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
cDNA_position | 69-71 | |||||
Exon_number | 2/5 | |||||
Y39B6A.40d.2 | VEP_consequence | 5_prime_UTR_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | Y39B6A.40d.2:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
cDNA_position | 93-95 | |||||
Exon_number | 1/4 | |||||
Y39B6A.40a.1 | VEP_consequence | frameshift_variant | ||||
VEP_impact | HIGH | |||||
HGVSc | Y39B6A.40a.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
HGVSp | CE34115:p.Ser20LysfsTer33 | |||||
cDNA_position | 398-400 | |||||
CDS_position | 59-61 | |||||
Protein_position | 20-21 | |||||
Exon_number | 3/6 | |||||
Codon_change | aGCTca/aAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGGca | |||||
Amino_acid_change | SS/KMRMTGNRTACGAYGSGASHGFRPTAYRX | |||||
Y39B6A.40b.1 | VEP_consequence | frameshift_variant | ||||
VEP_impact | HIGH | |||||
HGVSc | Y39B6A.40b.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
HGVSp | CE50570:p.Ser20LysfsTer33 | |||||
cDNA_position | 59-61 | |||||
CDS_position | 59-61 | |||||
Protein_position | 20-21 | |||||
Exon_number | 2/6 | |||||
Codon_change | aGCTca/aAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGGca | |||||
Amino_acid_change | SS/KMRMTGNRTACGAYGSGASHGFRPTAYRX | |||||
Y39B6A.40d.3 | VEP_consequence | 5_prime_UTR_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | Y39B6A.40d.3:c.-80_-78delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG | |||||
cDNA_position | 34-36 | |||||
Exon_number | 1/5 | |||||
Description | Phenotype | WBPhenotype:0000031 | Paper_evidence | WBPaper00049287 | ||
Curator_confirmed | WBPerson22768 | |||||
Recessive | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
WBPhenotype:0001175 | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
Recessive | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
WBPhenotype:0001256 | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
Recessive | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
WBPhenotype:0002436 | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
Recessive | Paper_evidence | WBPaper00049287 | ||||
Curator_confirmed | WBPerson22768 | |||||
Reference | WBPaper00049287 | |||||
WBPaper00060301 | ||||||
Remark | ea12 is a a 3-bp deletion/83-bp insertion in exon 2 just downstream of the predicted Cas9 cleavage site | Paper_evidence | WBPaper00049287 | |||
Primers and PCR conditions for genotyping are also provided in Table S5 in WBPaper00060301 | Paper_evidence | WBPaper00060301 | ||||
Curator_confirmed | WBPerson51134 | |||||
Method | Engineered_allele |