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WormBase Tree Display for Variation: WBVar00250125

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Name Class

WBVar00250125NamePublic_nametm1108
Other_nameT12E12.4a.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
HGVSgCHROMOSOME_IV:g.5539115_5539538delinsCTCCAGCGAACCAGGATT
Sequence_detailsSMapS_parentSequenceT12E12
Flanking_sequencescattctggctgtaactccagcgaaccaggatcggatcttgttgcattcggtgaaccagtt
Mapping_targetT12E12
Source_location7CHROMOSOME_IV55391145539539Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationInsertionCTCCAGCGAACCAGGATT
Deletion
PCR_producttm1108_external
tm1108_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005196
LaboratoryFX
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq1108
NBP_allele
StatusLive
AffectsGeneWBGene00001093
TranscriptT12E12.4b.2VEP_consequencesplice_acceptor_variant,splice_donor_variant,frameshift_variant,stop_lost,intron_variant
VEP_impactHIGH
HGVScT12E12.4b.2:c.576_954delinsCTCCAGCGAACCAGGATT
HGVSpCE30173:p.Phe193SerfsTer27
cDNA_position578-956
CDS_position576-954
Protein_position192-318
Intron_number3/10
Exon_number3-4/11
Codon_changegaTTTCGCTACTTCGGAGCCTATCAAGTTAGCTAGAGAAGTGGACGCAGGTGGACAAAGAACTCTCGCAGTTCTCACGAAATTGGATTTGATGGATCAAGGAACTGATGCGATGGACGTATTAATGGGGAAAGTGATTCCAGTAAAGTTGGGAATTATTGGAGTCGTTAATCGATCTCAACAGAATATTCTCGACAACAAACTGATCGTGGATGCAGTGAAAGATGAGCAAAGCTTTATGCAAAAGAAATATCCAACATTAGCTAGCAGAAATGGAACTCCTTATTTGGCAAAGAGATTGAATATGGTAAGAATTTCAATAAATAAAAAATTATTTAGAAATTAATTTCAGCTTCTCATGCACCATATTCGCAACTGTCTTCCTGCACTGAAAGCCCGCGTGTCTATCATGAACGCCCAATGCCAA/gaCTCCAGCGAACCAGGATT
Amino_acid_changeDFATSEPIKLAREVDAGGQRTLAVLTKLDLMDQGTDAMDVLMGKVIPVKLGIIGVVNRSQQNILDNKLIVDAVKDEQSFMQKKYPTLASRNGTPYLAKRLNMVRISINKKLFRN*FQLLMHHIRNCLPALKARVSIMNAQCQ/DSSEPGX
T12E12.4a.1 (11)
T12E12.4b.1 (11)
T12E12.4a.2 (11)
InteractorWBInteraction000501344
WBInteraction000548956
WBInteraction000571769
IsolationMutagenTMP/UV
GeneticsMapIV
DescriptionPhenotypeWBPhenotype:0000017Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment to the National Bioresource Project of Japan from Dr. J. Kaplan: resistant to aldicarb.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000030Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Gro.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000031Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. D. Xue to the National Bioresource Project of Japan: slow growth.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000050Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment 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_evidenceWBPerson7743
Curator_confirmedWBPerson712
PenetranceLowPerson_evidenceWBPerson7743
Curator_confirmedWBPerson712
Range1515Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000059Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. H-S. Koo to the National Bioresource Project of Japan: L1-L3 larval arrest of lethality of 60%.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
PenetranceIncompletePerson_evidenceWBPerson7743
Curator_confirmedWBPerson712
Range6060Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000229Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Sma.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000273Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
WBPhenotype:0000315Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
WBPhenotype:0001171Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
WBPhenotype:0001282Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
RemarkIncreased basal mitochondrial respiration, and reduced maximal respiratory capacity and spare respiratory capacity in L4 stage nematodesPaper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
EQ_annotationsLife_stageWBls:0000038PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
GO_termGO:0009060PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
GO:0005739PATO:0000460Paper_evidenceWBPaper00047030
Curator_confirmedWBPerson25433
WBPhenotype:0001401Paper_evidenceWBPaper00038057
WBPaper00056369
Curator_confirmedWBPerson712
WBPerson9270
RemarkMitochondria of drp-1 mutants have very few or no loose ends and form a closed network.Paper_evidenceWBPaper00038057
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0003675PATO:0000460Paper_evidenceWBPaper00038057
Curator_confirmedWBPerson712
GO_termGO:0005739PATO:0000460Paper_evidenceWBPaper00038057
Curator_confirmedWBPerson712
WBPhenotype:0001402Paper_evidenceWBPaper00033026
WBPaper00035144
WBPaper00038057
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Connected mitochondria in muscle and hypodermal cells.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
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 umPaper_evidenceWBPaper00033026
Curator_confirmedWBPerson712
drp-1(tm1108) embryos exhibited a highly elongated and connected mitochondrial morphologyPaper_evidenceWBPaper00035144
Curator_confirmedWBPerson712
72% of M daughter cells retain connections as determined by expression of the mitochondrial outer membrane marker, TOM70::GFP.Paper_evidenceWBPaper00038057
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000003PATO:0000460Paper_evidenceWBPaper00033026
Curator_confirmedWBPerson712
WBPhenotype:0001482Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
WBPhenotype:0001575Paper_evidenceWBPaper00044205
Curator_confirmedWBPerson3701
Remarkreduced steady-state ATPPaper_evidenceWBPaper00044205
Curator_confirmedWBPerson3701
EQ_annotationsMolecule_affectedWBMol:00001405PATO:0001997Paper_evidenceWBPaper00044205
Curator_confirmedWBPerson3701
WBPhenotype:0002129Paper_evidenceWBPaper00044205
Curator_confirmedWBPerson3701
Remarkincreased mitochondrial DNA copy numberPaper_evidenceWBPaper00044205
Curator_confirmedWBPerson3701
WBPhenotype:0002517Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
Remarkburrowing distance reducedPaper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment 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_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000140Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Remarkdid not significantly exacerbate L3 arrest at any time pointPaper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00003513Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
EQ_annotationsLife_stageWBls:0000035PATO:0000460Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
Phenotype_assayTreatmentserial ultraviolet C radiation(UVC) exposure (10 J/m2)Paper_evidenceWBPaper00041209
Curator_confirmedWBPerson712
WBPhenotype:0000643Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComment from Dr. A. van der Bliek to the National Bioresource Project of Japan: Normal locomotion.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0001983Paper_evidenceWBPaper00056369
Curator_confirmedWBPerson9270
Disease_infoModels_diseaseDOID:14330
Models_disease_in_annotationWBDOannot00000741
ReferenceWBPaper00038057
WBPaper00041209
WBPaper00033026
WBPaper00035144
WBPaper00044205
WBPaper00047030
WBPaper00056369
WBPaper00064979
WBPaper00065803
Remark1053/1054-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_evidenceWBPaper00041807
MethodNBP_knockout_allele