WormBase Tree Display for Variation: WBVar00249724
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WBVar00249724 | Name | Public_name | tm694 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | Y75B8A.22.2:c.541_1010del | |||||||
CE23033:p.Ser181GlufsTer9 | ||||||||
Y75B8A.22.1:c.541_1010del | ||||||||
HGVSg | CHROMOSOME_III:g.12248994_12249463del | |||||||
Sequence_details | SMap | S_parent | Sequence | Y75B8A | ||||
Flanking_sequences | gtctcaatgattcggatcaccatatctctc | atcctcgatgcgagttcttcggccttctga | ||||||
Mapping_target | Y75B8A | |||||||
Source_location | 7 | CHROMOSOME_III | 12248993 | 12249464 | Inferred_automatically | National_Bioresource_Project | ||
Type_of_mutation | Deletion | |||||||
PCR_product | tm694_external | |||||||
tm694_internal | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | FX | |||||||
Author | Mitani S | |||||||
DB_info | Database | National_Bioresource_Project | seq | 694 | ||||
NBP_allele | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00006571 | ||||||
Transcript | Y75B8A.22.2 | VEP_consequence | frameshift_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | Y75B8A.22.2:c.541_1010del | |||||||
HGVSp | CE23033:p.Ser181GlufsTer9 | |||||||
cDNA_position | 551-1020 | |||||||
CDS_position | 541-1010 | |||||||
Protein_position | 181-337 | |||||||
Exon_number | 4/9 | |||||||
Codon_change | AGCAGTCATGATCGTGTGATTATTGCGTTTTTAGAGTCGGGAATCGATAAAACTCTGATGCATATCGCGAATCAGCCGAGAGAAAAAGAGTTCCACGTCACGATTCTCGACATTTTCGCGTTGATCCTGAAAGAGCAGACAGCTGAGGATCTGGCCACCAAGTCTGAAGAAGTTTCGACAGCTGAACAGAAGAAGACCGAGGAGGAATTTCGAAAAATCATCGAAAACCACGTTGTCAAAGAGACTCAGAAGAGAAAGTCGTTCTCGAGATTCGGTGGATCCTACACAATCAAAGGTCTTAAGGGAATCTCGGCGAATTCTAGTCAAGTAGTGTTCAAACCGATTCAAAACGTGGAAAAGCACAATTTTCTGGATGATCGGAAGGCGAAAAAGCGGGCTCCGAGGAATAGAAGACCGTTTGAAATCGACACAAATTCGCATTTCGCGTCGTCTGAAGTTCGTGGGATGCTg/g | |||||||
Amino_acid_change | SSHDRVIIAFLESGIDKTLMHIANQPREKEFHVTILDIFALILKEQTAEDLATKSEEVSTAEQKKTEEEFRKIIENHVVKETQKRKSFSRFGGSYTIKGLKGISANSSQVVFKPIQNVEKHNFLDDRKAKKRAPRNRRPFEIDTNSHFASSEVRGML/X | |||||||
Y75B8A.22.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y75B8A.22.1:c.541_1010del | |||||||
HGVSp | CE23033:p.Ser181GlufsTer9 | |||||||
cDNA_position | 551-1020 | |||||||
CDS_position | 541-1010 | |||||||
Protein_position | 181-337 | |||||||
Exon_number | 4/9 | |||||||
Codon_change | AGCAGTCATGATCGTGTGATTATTGCGTTTTTAGAGTCGGGAATCGATAAAACTCTGATGCATATCGCGAATCAGCCGAGAGAAAAAGAGTTCCACGTCACGATTCTCGACATTTTCGCGTTGATCCTGAAAGAGCAGACAGCTGAGGATCTGGCCACCAAGTCTGAAGAAGTTTCGACAGCTGAACAGAAGAAGACCGAGGAGGAATTTCGAAAAATCATCGAAAACCACGTTGTCAAAGAGACTCAGAAGAGAAAGTCGTTCTCGAGATTCGGTGGATCCTACACAATCAAAGGTCTTAAGGGAATCTCGGCGAATTCTAGTCAAGTAGTGTTCAAACCGATTCAAAACGTGGAAAAGCACAATTTTCTGGATGATCGGAAGGCGAAAAAGCGGGCTCCGAGGAATAGAAGACCGTTTGAAATCGACACAAATTCGCATTTCGCGTCGTCTGAAGTTCGTGGGATGCTg/g | |||||||
Amino_acid_change | SSHDRVIIAFLESGIDKTLMHIANQPREKEFHVTILDIFALILKEQTAEDLATKSEEVSTAEQKKTEEEFRKIIENHVVKETQKRKSFSRFGGSYTIKGLKGISANSSQVVFKPIQNVEKHNFLDDRKAKKRAPRNRRPFEIDTNSHFASSEVRGML/X | |||||||
Isolation | Mutagen | TMP/UV | ||||||
Genetics | Map | III | ||||||
Description | Phenotype | WBPhenotype:0000052 | Person_evidence | WBPerson7743 | ||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Comment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000059 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Comment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Most maternally rescued animals arrest during larval development. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Penetrance | High | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000062 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Classified as lethal OR sterile by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000674 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Comment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Maternally rescued animals show retarded development. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000688 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Classified as lethal OR sterile by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Comment from Dr. B.J. Meyer to the National Bioresource Project of Japan: maternal effect lethal. Maternally rescued animals show sterility. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | |||||||
Phenotype_not_observed | WBPhenotype:0001257 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Comment from Dr. S. Boulton to the National Bioresource Project of Japan: not required for FCD-2 focus formation after CDDP. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Remark | 179889/179890-180359/180360 (470 bp deletion) | |||||||
This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. | Paper_evidence | WBPaper00041807 | ||||||
Method | NBP_knockout_allele |