WormBase Tree Display for Variation: WBVar00252161
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WBVar00252161 | Name | Public_name | tm3489 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | C32D5.9.1:c.113_287del | ||||||||
CE01849:p.Lys38ArgfsTer41 | |||||||||
HGVSg | CHROMOSOME_II:g.6347400_6347574del | ||||||||
Sequence_details | SMap | S_parent | Sequence | C32D5 | |||||
Flanking_sequences | taaatgaaaataaacgactggttagttacc | ttggtgctttctcaacaatcactggaatac | |||||||
Mapping_target | C32D5 | ||||||||
Source_location | 7 | CHROMOSOME_II | 6347399 | 6347575 | Inferred_automatically | National_Bioresource_Project | |||
Type_of_mutation | Deletion | ||||||||
PCR_product | tm3489_external | ||||||||
tm3489_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | FX | ||||||||
Author | Mitani S | ||||||||
DB_info | Database | National_Bioresource_Project | seq | 3489 | |||||
NBP_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002980 | |||||||
Transcript | C32D5.9.1 | VEP_consequence | frameshift_variant,splice_region_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | C32D5.9.1:c.113_287del | ||||||||
HGVSp | CE01849:p.Lys38ArgfsTer41 | ||||||||
cDNA_position | 146-320 | ||||||||
CDS_position | 113-287 | ||||||||
Protein_position | 38-96 | ||||||||
Exon_number | 2/4 | ||||||||
Codon_change | aAGTCAAAGCTCCATGACTTGGATAAGAAGAAGTACTTGGTCCCATCCGATCTTACTGTTGGACAGTTCTACTTCCTCATCAGAAAACGCATCCAACTTCGTCCAGAAGATGCTCTGTTCTTCTTTGTCAACAATGTCATTCCACAAACCATGACCACAATGGGACAACTCTACCAg/ag | ||||||||
Amino_acid_change | KSKLHDLDKKKYLVPSDLTVGQFYFLIRKRIQLRPEDALFFFVNNVIPQTMTTMGQLYQ/X | ||||||||
Interactor | WBInteraction000501092 | ||||||||
WBInteraction000518437 | |||||||||
Isolation | Mutagen | TMP/UV | |||||||
Genetics | Map | II | |||||||
Description | Phenotype | WBPhenotype:0000054 | Paper_evidence | WBPaper00038332 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Animals die as larva. | Paper_evidence | WBPaper00038332 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000062 | Paper_evidence | WBPaper00040312 | |||||||
Person_evidence | WBPerson7743 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Classified as lethal or sterile by the National Bioresource Project of Japan. Comment to the NBP from Dr. K. Sato: Science 334, 1141 (2011). | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Laboratory_evidence | FX | ||||||||
The lgg-1(tm3489) null mutant homozygotes reached adulthood and produced an almost normal number of self-fertilized eggs. However, 36% of the eggs did not hatch and 59% of the embryos hatched but were lethal at the L1 larval stage. Crossing of lgg-1(tm3489) hermaphrodites and wild-type males resulted in viable F1 embryos. | Paper_evidence | WBPaper00040312 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00040312 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBls:0000024 | PATO:0000460 | Paper_evidence | WBPaper00040312 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Maternal | With_maternal_effect (2) | ||||||||
WBPhenotype:0000241 | Paper_evidence | WBPaper00038332 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | Ex[LGG-1::GFP], due to the instability of Ex arrays, this strain behaves as a genetic mosaic. | Paper_evidence | WBPaper00038332 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000688 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Classified as lethal or sterile by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Laboratory_evidence | FX | ||||||||
WBPhenotype:0000736 | Paper_evidence | WBPaper00040387 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | In control embryos the number of membranous organelles (MOs) rapidly decreases during the first cell divisions, whereas in mutant embryos, MOs are still present at 100/120-cell stage and do not undergo autophagy. | Paper_evidence | WBPaper00040387 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001135 | Paper_evidence | WBPaper00040387 | |||||||
WBPaper00040312 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | In control embryos the number of membranous organelles (MOs) rapidly decreases during the first cell divisions, whereas in mutant embryos, MOs are still present at 100/120-cell stage. | Paper_evidence | WBPaper00040387 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Paternal mitochondria persisted. | Paper_evidence | WBPaper00040312 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Maternal | With_maternal_effect (2) | ||||||||
WBPhenotype:0002122 | Paper_evidence | WBPaper00040312 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | When hermaphrodites of the lgg-1(tm3489) mutant were mated with MT-labeled wild-type males, paternal mitochondria remained in the embryos beyond the 16-cell stage (n>20). The lgg-1(tm3489) mutation in males did not affect clearance of paternal mitochondria in embryos. Paternal mitochondria were observed as late as at the lima-bean stage but eventually disappeared at later stages. | Paper_evidence | WBPaper00040312 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Maternal | With_maternal_effect (2) | ||||||||
Reference | WBPaper00038332 | ||||||||
WBPaper00040312 | |||||||||
WBPaper00040387 | |||||||||
WBPaper00050047 | |||||||||
Remark | 35389/35390-35564/35565 (175 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 |