WormBase Tree Display for Variation: WBVar00250125
expand all nodes | collapse all nodes | view schema
WBVar00250125 | Name | Public_name | tm1108 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | T12E12.4a.2:c.576_954delinsCTCCAGCGAACCAGGATT | ||||||||
T12E12.4b.2:c.576_954delinsCTCCAGCGAACCAGGATT | |||||||||
CE30173:p.Phe193SerfsTer27 | |||||||||
CE30172:p.Phe193SerfsTer27 | |||||||||
T12E12.4a.1:c.576_954delinsCTCCAGCGAACCAGGATT | |||||||||
T12E12.4b.1:c.576_954delinsCTCCAGCGAACCAGGATT | |||||||||
HGVSg | CHROMOSOME_IV:g.5539115_5539538delinsCTCCAGCGAACCAGGATT | ||||||||
Sequence_details | SMap | S_parent | Sequence | T12E12 | |||||
Flanking_sequences | cattctggctgtaactccagcgaaccagga | tcggatcttgttgcattcggtgaaccagtt | |||||||
Mapping_target | T12E12 | ||||||||
Source_location | 7 | CHROMOSOME_IV | 5539114 | 5539539 | Inferred_automatically | National_Bioresource_Project | |||
Type_of_mutation | Insertion | CTCCAGCGAACCAGGATT | |||||||
Deletion | |||||||||
PCR_product | tm1108_external | ||||||||
tm1108_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00005196 | ||||||||
Laboratory | FX | ||||||||
Author | Mitani S | ||||||||
DB_info | Database | National_Bioresource_Project | seq | 1108 | |||||
NBP_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001093 | |||||||
Transcript | T12E12.4b.2 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,frameshift_variant,stop_lost,intron_variant | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | T12E12.4b.2:c.576_954delinsCTCCAGCGAACCAGGATT | ||||||||
HGVSp | CE30173:p.Phe193SerfsTer27 | ||||||||
cDNA_position | 578-956 | ||||||||
CDS_position | 576-954 | ||||||||
Protein_position | 192-318 | ||||||||
Intron_number | 3/10 | ||||||||
Exon_number | 3-4/11 | ||||||||
Codon_change | gaTTTCGCTACTTCGGAGCCTATCAAGTTAGCTAGAGAAGTGGACGCAGGTGGACAAAGAACTCTCGCAGTTCTCACGAAATTGGATTTGATGGATCAAGGAACTGATGCGATGGACGTATTAATGGGGAAAGTGATTCCAGTAAAGTTGGGAATTATTGGAGTCGTTAATCGATCTCAACAGAATATTCTCGACAACAAACTGATCGTGGATGCAGTGAAAGATGAGCAAAGCTTTATGCAAAAGAAATATCCAACATTAGCTAGCAGAAATGGAACTCCTTATTTGGCAAAGAGATTGAATATGGTAAGAATTTCAATAAATAAAAAATTATTTAGAAATTAATTTCAGCTTCTCATGCACCATATTCGCAACTGTCTTCCTGCACTGAAAGCCCGCGTGTCTATCATGAACGCCCAATGCCAA/gaCTCCAGCGAACCAGGATT | ||||||||
Amino_acid_change | DFATSEPIKLAREVDAGGQRTLAVLTKLDLMDQGTDAMDVLMGKVIPVKLGIIGVVNRSQQNILDNKLIVDAVKDEQSFMQKKYPTLASRNGTPYLAKRLNMVRISINKKLFRN*FQLLMHHIRNCLPALKARVSIMNAQCQ/DSSEPGX | ||||||||
T12E12.4a.1 (11) | |||||||||
T12E12.4b.1 (11) | |||||||||
T12E12.4a.2 (11) | |||||||||
Interactor | WBInteraction000501344 | ||||||||
WBInteraction000548956 | |||||||||
WBInteraction000571769 | |||||||||
Isolation | Mutagen | TMP/UV | |||||||
Genetics | Map | IV | |||||||
Description | Phenotype | WBPhenotype:0000017 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment to the National Bioresource Project of Japan from Dr. J. Kaplan: resistant to aldicarb. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000030 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Gro. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000031 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. D. Xue to the National Bioresource Project of Japan: slow growth. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000050 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. H-S. Koo to the National Bioresource Project of Japan: embryonic lethality of 15%: The embryonic lethality of 15% for drp-1(tm1108) was observed at the standard growth temperature of 20 deg C. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Low | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Range | 15 | 15 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000059 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. H-S. Koo to the National Bioresource Project of Japan: L1-L3 larval arrest of lethality of 60%. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Penetrance | Incomplete | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Range | 60 | 60 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000229 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Sma. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000273 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
WBPhenotype:0000315 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
WBPhenotype:0001171 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
WBPhenotype:0001282 | Paper_evidence | WBPaper00047030 | |||||||
Curator_confirmed | WBPerson25433 | ||||||||
Remark | Increased basal mitochondrial respiration, and reduced maximal respiratory capacity and spare respiratory capacity in L4 stage nematodes | Paper_evidence | WBPaper00047030 | ||||||
Curator_confirmed | WBPerson25433 | ||||||||
EQ_annotations | Life_stage | WBls:0000038 | PATO:0000460 | Paper_evidence | WBPaper00047030 | ||||
Curator_confirmed | WBPerson25433 | ||||||||
GO_term | GO:0009060 | PATO:0000460 | Paper_evidence | WBPaper00047030 | |||||
Curator_confirmed | WBPerson25433 | ||||||||
GO:0005739 | PATO:0000460 | Paper_evidence | WBPaper00047030 | ||||||
Curator_confirmed | WBPerson25433 | ||||||||
WBPhenotype:0001401 | Paper_evidence | WBPaper00038057 | |||||||
WBPaper00056369 | |||||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPerson9270 | |||||||||
Remark | Mitochondria of drp-1 mutants have very few or no loose ends and form a closed network. | Paper_evidence | WBPaper00038057 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0003675 | PATO:0000460 | Paper_evidence | WBPaper00038057 | ||||
Curator_confirmed | WBPerson712 | ||||||||
GO_term | GO:0005739 | PATO:0000460 | Paper_evidence | WBPaper00038057 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001402 | Paper_evidence | WBPaper00033026 | |||||||
WBPaper00035144 | |||||||||
WBPaper00038057 | |||||||||
Person_evidence | WBPerson7743 | ||||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Connected mitochondria in muscle and hypodermal cells. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Mitochondria in drp-1(tm1108) embryos were very long, with fewer individual mitochondria observed in each cell and a mean mitochondrial length of 2.28 um | Paper_evidence | WBPaper00033026 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
drp-1(tm1108) embryos exhibited a highly elongated and connected mitochondrial morphology | Paper_evidence | WBPaper00035144 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
72% of M daughter cells retain connections as determined by expression of the mitochondrial outer membrane marker, TOM70::GFP. | Paper_evidence | WBPaper00038057 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00033026 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001482 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
WBPhenotype:0001575 | Paper_evidence | WBPaper00044205 | |||||||
Curator_confirmed | WBPerson3701 | ||||||||
Remark | reduced steady-state ATP | Paper_evidence | WBPaper00044205 | ||||||
Curator_confirmed | WBPerson3701 | ||||||||
EQ_annotations | Molecule_affected | WBMol:00001405 | PATO:0001997 | Paper_evidence | WBPaper00044205 | ||||
Curator_confirmed | WBPerson3701 | ||||||||
WBPhenotype:0002129 | Paper_evidence | WBPaper00044205 | |||||||
Curator_confirmed | WBPerson3701 | ||||||||
Remark | increased mitochondrial DNA copy number | Paper_evidence | WBPaper00044205 | ||||||
Curator_confirmed | WBPerson3701 | ||||||||
WBPhenotype:0002517 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
Remark | burrowing distance reduced | Paper_evidence | WBPaper00056369 | ||||||
Curator_confirmed | WBPerson9270 | ||||||||
Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. D. Xue to the National Bioresource Project of Japan: slow growth but not lethal or sterile. Originally classified as lethal OR sterile by the National Bioresource Project of Japan. Mol Cell, 31, 586 (2008). | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000140 | Paper_evidence | WBPaper00041209 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | did not significantly exacerbate L3 arrest at any time point | Paper_evidence | WBPaper00041209 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Affected_by | Molecule | WBMol:00003513 | Paper_evidence | WBPaper00041209 | |||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000035 | PATO:0000460 | Paper_evidence | WBPaper00041209 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Treatment | serial ultraviolet C radiation(UVC) exposure (10 J/m2) | Paper_evidence | WBPaper00041209 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000643 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Comment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Normal locomotion. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001983 | Paper_evidence | WBPaper00056369 | |||||||
Curator_confirmed | WBPerson9270 | ||||||||
Disease_info | Models_disease | DOID:14330 | |||||||
Models_disease_in_annotation | WBDOannot00000741 | ||||||||
Reference | WBPaper00038057 | ||||||||
WBPaper00041209 | |||||||||
WBPaper00033026 | |||||||||
WBPaper00035144 | |||||||||
WBPaper00044205 | |||||||||
WBPaper00047030 | |||||||||
WBPaper00056369 | |||||||||
WBPaper00064979 | |||||||||
WBPaper00065803 | |||||||||
Remark | 1053/1054-CTCCAGCGAACCAGGATT-1477/1478 (425 bp deletion + 18 bp insertion) | ||||||||
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 |