WormBase Tree Display for Variation: WBVar00249516
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WBVar00249516 | Name | Public_name | tm472 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | B0285.5.3:c.666_1249del | ||||||||
CE36681:p.Asn223GlyfsTer38 | |||||||||
B0285.5.2:c.666_1249del | |||||||||
B0285.5.1:c.666_1249del | |||||||||
HGVSg | CHROMOSOME_III:g.4346657_4347904del | ||||||||
Sequence_details | SMap | S_parent | Sequence | B0285 | |||||
Flanking_sequences | aatgcatgaaacaactgaacgattgttttt | tggaaagatcaattgccgagagaaagttgg | |||||||
Mapping_target | B0285 | ||||||||
Source_location | 7 | CHROMOSOME_III | 4346656 | 4347905 | Inferred_automatically | National_Bioresource_Project | |||
Type_of_mutation | Deletion | ||||||||
PCR_product | tm472_external | ||||||||
tm472_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00029322 | ||||||||
WBStrain00040542 | |||||||||
Laboratory | FX | ||||||||
Author | Mitani S | ||||||||
DB_info | Database | National_Bioresource_Project | seq | 472 | |||||
NBP_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002003 | |||||||
Transcript | B0285.5.1 (11) | ||||||||
B0285.5.3 (11) | |||||||||
B0285.5.2 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,frameshift_variant,stop_lost,intron_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | B0285.5.2:c.666_1249del | ||||||||
HGVSp | CE36681:p.Asn223GlyfsTer38 | ||||||||
cDNA_position | 674-1257 | ||||||||
CDS_position | 666-1249 | ||||||||
Protein_position | 222-417 | ||||||||
Intron_number | 5-7/10 | ||||||||
Exon_number | 5-8/11 | ||||||||
Codon_change | ttTAATGATGAACAAATGGGAAAAGTTGTGAATATAAGTGCTGGAGGTTTGTTATATAGAAGCAAAATTTTATTAAAATTTGGAAAAGTGGGATTATGTACACCAATTAGCTCAAAAAATTTCAGATAAAATTCTGACATTTTAACTTAAAAAAAATTATTTTTTTTCCAGCTGCCCTTGCAAATGCCGGAGCATATGTATATCTCGACAAATCACCGGATCTTCATGTAATTTCATTTGATTGGAAACCGTATGAGGCGAATTCTTCGTTCACTGTATTGGCGAAAGTATGTTTAAACGCTGAAAATTTATTTTTTCTTTAAAAAATCCATATATTTTGATTTCACTTCTCTTCGGGGAGTACACGAGCGTGGCCAGGCTAGAGCTTTCACCCAAACCATAACTAATTTTCCAGATGAAGCAAGACGATCTTCTTGTTCTGATCAACTATGTCTACTCGGAAGGAAACGGGAAATGTGTATGGCAAGAGGAAGAACGTATTTCTGATGATTATATAGTTCAAAAACCAAAAAAAGATGGACAAGTATCATATTCGTATTCTTATATTGGAAATTCACCAATTGGAGAATGGTCTACAGTAACACGTGATCTTCTTGTCGACGTGGCAAGAGCATTATCCAGTGGAGATAATAGGAAGAAAGATGATAATGTCGTTTTGCATGCGGGTATGGATCAGGCTCGGGGCGTTGAAAAAAATTTTCGACCAAAAACCAAAAAAAACAGAAAAATGTTTCGCTTTTTTTTTCATTAACATACAATTTTTGAAAAATAATTTTATTTGGTCCGAAAAAATTAAAAACACCAAAAAATCGACAGCCCTGATCAGGCTTCCCTTTTTGTTTTTTCCTTAAAATAATCGAAAAAAAATTGGAAAAAATCCCACTTTCTCAACTTGCTTTTGTTACACCGTAACATAACTATATTAAAATCTGGCCGTTTCTGAAATGTTTCAAGAGAAACAATTCCAGTTTTGCTTAAAAATTCAAAAACTCGAAATTTTTTCGGCGGCACTCTTTGTTTGAATTTTAAAAAAATTATGAAAATTACAAGCCTCATATTATACTGATTTTTTTCAGGAGATCTTCGTCTAGTTTCTCTTGGATTCCGCGGTGAGCTCACCGTAAAGCAAAAAATAACACAACGACGTGAACAACATTCTCATGCATTCTATGCGGCAGCTGATTGGTTGGTAAAGAATCAAAATGATCGAGGAGGATGGTCGGTTCCTGtg/tttg | ||||||||
Amino_acid_change | FNDEQMGKVVNISAGGLLYRSKILLKFGKVGLCTPISSKNFR*NSDILT*KKLFFFQLPLQMPEHMYISTNHRIFM*FHLIGNRMRRILRSLYWRKYV*TLKIYFFFKKSIYFDFTSLRGVHERGQARAFTQTITNFPDEARRSSCSDQLCLLGRKREMCMARGRTYF**LYSSKTKKRWTSIIFVFLYWKFTNWRMVYSNT*SSCRRGKSIIQWR**EER**CRFACGYGSGSGR*KKFSTKNQKKQKNVSLFFSLTYNF*KIILFGPKKLKTPKNRQP*SGFPFCFFLKIIEKKLEKIPLSQLAFVTP*HNYIKIWPFLKCFKRNNSSFA*KFKNSKFFRRHSLFEF*KNYENYKPHIILIFFRRSSSSFSWIPR*AHRKAKNNTTT*TTFSCILCGS*LVGKESK*SRRMVGSCX/FX | ||||||||
Interactor | WBInteraction000524033 | ||||||||
WBInteraction000524034 | |||||||||
Isolation | Mutagen | TMP/UV | |||||||
Genetics | Map | III | |||||||
Description | Phenotype | WBPhenotype:0000229 | Paper_evidence | WBPaper00029002 | |||||
Curator_confirmed | WBPerson557 | ||||||||
WBPhenotype:0000541 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Roughly half of the commissures that make an incorrect midline choice reach the dorsal nerve cord | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000632 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Severe defasciculation defects | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001761 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Midline crossover defects of PVQL and PVQR as well as AVK axons, with either contralateral analog inappropriately crossing the midline | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006976 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0006823 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oyIs14, bwIs2 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001767 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | The midline choice (where the axons turn at the midline either to the left or right) is affected. | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005303 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBbt:0005270 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0002491 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Ectopic neurite outgrowth defects in the DVB tail motor neurons | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0004822 | PATO:0000460 | Paper_evidence | WBPaper00006471 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_not_observed | WBPhenotype:0000012 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Not daf-c | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000054 | Paper_evidence | WBPaper00040941 | |||||||
Curator_confirmed | WBPerson1705 | ||||||||
WBPhenotype:0000062 | Paper_evidence | WBPaper00006471 | |||||||
Person_evidence | WBPerson7743 | ||||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPerson2021 | |||||||||
Remark | Classified as homozygous viable by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Laboratory_evidence | FX | ||||||||
Non-lethal | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000245 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | No defects in SM migration | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000470 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | No defects in HSN migration | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | mgIs71 | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000604 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | The nervous system is grossly intact in all mutants | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Anatomy_term (13) | ||||||||
Phenotype_assay | Treatment | DiI staining | Paper_evidence | WBPaper00006471 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Genotype | oyIs17, otEx404, mgIs18, uIs25, otEx1043, zdIs5, otEx1082, otIs39, evIs82b, wdIs3 | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Non-Unc | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00006471 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Non-sterile | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00006471 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0001767 | Paper_evidence | WBPaper00032413 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Removal of C5-epimerization does not result in significant defects in the sidedness of DA/DB motor axon projections | Paper_evidence | WBPaper00032413 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Variation_effect | Null | Paper_evidence | WBPaper00032413 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00040941 | ||||||||
WBPaper00032413 | |||||||||
WBPaper00029002 | |||||||||
WBPaper00006471 | |||||||||
Remark | 15975/15976-17223/17224 (1248 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 |