WormBase Tree Display for Variation: WBVar00249339
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WBVar00249339 | Name | Public_name | tm290 | |||||
---|---|---|---|---|---|---|---|---|
Other_name (18) | ||||||||
HGVSg | CHROMOSOME_III:g.7629673_7630276del | |||||||
Sequence_details | SMap | S_parent | Sequence | ZK783 | ||||
Flanking_sequences | gatgaggatcttatggaagaaggatctggg | ctgattcgcttacagaaggatccggatctg | ||||||
Mapping_target | ZK783 | |||||||
Source_location | 7 | CHROMOSOME_III | 7629672 | 7630277 | Inferred_automatically | National_Bioresource_Project | ||
Type_of_mutation | Deletion | |||||||
PCR_product | tm290_external | |||||||
tm290_internal | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | FX | |||||||
Author | Mitani S | |||||||
DB_info | Database | National_Bioresource_Project | seq | 290 | ||||
NBP_allele | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00022816 | ||||||
Transcript | ZK783.1f.1 | VEP_consequence | frameshift_variant | |||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1f.1:c.2137_2740del | |||||||
HGVSp | CE47720:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/23 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1j.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1j.1:c.2137_2740del | |||||||
HGVSp | CE47737:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/15 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1g.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1g.1:c.2137_2740del | |||||||
HGVSp | CE47732:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/23 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1h.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1h.1:c.2137_2740del | |||||||
HGVSp | CE47716:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/22 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1d.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1d.1:c.2137_2740del | |||||||
HGVSp | CE47697:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/23 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1e.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1e.1:c.2137_2740del | |||||||
HGVSp | CE44082:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/23 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1k.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1k.1:c.2143_2746del | |||||||
HGVSp | CE47705:p.Ser715LeufsTer225 | |||||||
cDNA_position | 2143-2746 | |||||||
CDS_position | 2143-2746 | |||||||
Protein_position | 715-916 | |||||||
Exon_number | 8/25 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1a.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1a.1:c.2137_2740del | |||||||
HGVSp | CE47717:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/26 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
ZK783.1b.1 | VEP_consequence | frameshift_variant | ||||||
VEP_impact | HIGH | |||||||
HGVSc | ZK783.1b.1:c.2137_2740del | |||||||
HGVSp | CE47727:p.Ser713LeufsTer225 | |||||||
cDNA_position | 2137-2740 | |||||||
CDS_position | 2137-2740 | |||||||
Protein_position | 713-914 | |||||||
Exon_number | 8/25 | |||||||
Codon_change | TCTTGGAGTACGACTATCAATGGAACAGGAATTACTGGATCCCCTAGATCAGAGGGTACAATCAGAGTTAGAATTACAACATTAGGAGAGGATGGTGAACCAGAAACCGCAACAAAGCCAGGAATCAGTGCACCTGACAAAACTGGAGAAGGTTCAAAAACTGAGAGTGACGGAGAAGAGAAATTGACTGTTGAAAAAGATGGGAAAGAGGCACAGTCGTCTGGATCAAGTGCTACATCATCTGGAAAAAAATCCGAAGCGACATCAGGATCTTCTAGCTCTTCTGCAAAATCTGGGACCGGATCGGAAGCTTCTGGATCTTCTGGAGCTAGTTCATCTTCCGGATCAGGAGTTTCGGGAGAGTCTGGATCATCGGTTTCAACAGAGTCTGGAAGCTTTGGAACCTCTTCTAGTGGATCTGTTGGATCAGAAGCAACTGGATCGACAGGAGTTGACGGATCTGAATCAGGGAAGCCATCTAAATCATCAACTGAGGAAAAATTGCCATTTACCAAAAACGGGGAAAAATCTCCAATATCTGGTTCGGATACAACCGGCAAAGAATCCTCAGAAGAAACTACTTCGAGAAAACCTATCGAAGGATct/ct | |||||||
Amino_acid_change | SWSTTINGTGITGSPRSEGTIRVRITTLGEDGEPETATKPGISAPDKTGEGSKTESDGEEKLTVEKDGKEAQSSGSSATSSGKKSEATSGSSSSSAKSGTGSEASGSSGASSSSGSGVSGESGSSVSTESGSFGTSSSGSVGSEATGSTGVDGSESGKPSKSSTEEKLPFTKNGEKSPISGSDTTGKESSEETTSRKPIEGS/X | |||||||
Isolation | Mutagen | TMP/UV | ||||||
Genetics | Map | III | ||||||
Mapping_data | In_multi_point | 5355 | ||||||
Description | Phenotype | 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 | |||||||
Laboratory_evidence | FX | |||||||
WBPhenotype:0000638 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Comments to the National Bioresource Project of Japan: Dr. A. Frand: Mlt. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Laboratory_evidence | FX | |||||||
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 | |||||||
Laboratory_evidence | FX | |||||||
Phenotype_not_observed | WBPhenotype:0000195 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Remark | Comment from Dr. K. Nishiwaki to the National Bioresource Project of Japan: normal DTC migration. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | |||||||
Remark | 3846/3847-4450/4451 (604 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 |