WormBase Tree Display for Variation: WBVar00250244
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| WBVar00250244 | Name | Public_name | tm1236 | |||||
|---|---|---|---|---|---|---|---|---|
| Other_name (12) | ||||||||
| HGVSg | CHROMOSOME_III:g.3000574_3001134del | |||||||
| Sequence_details | SMap | S_parent | Sequence | Y55D5A | ||||
| Flanking_sequences | atcgaacaggcatcatacgcttgcccgatg | acttattgtccacacaatattcgggattca | ||||||
| Mapping_target | Y55D5A | |||||||
| Source_location | 7 | CHROMOSOME_III | 3000573 | 3001135 | Inferred_automatically | National_Bioresource_Project | ||
| Type_of_mutation | Deletion | |||||||
| PCR_product | tm1236_external | |||||||
| tm1236_internal | ||||||||
| SeqStatus | Sequenced | |||||||
| Variation_type | Allele | |||||||
| Origin | Species | Caenorhabditis elegans | ||||||
| Laboratory | FX | |||||||
| Author | Mitani S | |||||||
| DB_info | Database | National_Bioresource_Project | seq | 1236 | ||||
| NBP_allele | ||||||||
| Status | Live | |||||||
| Affects | Gene | WBGene00000898 | ||||||
| Transcript | Y55D5A.5g.1 | VEP_consequence | inframe_deletion | |||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5g.1:c.179_739del | |||||||
| HGVSp | CE50631:p.Tyr60_Pro247delinsSer | |||||||
| cDNA_position | 179-739 | |||||||
| CDS_position | 179-739 | |||||||
| Protein_position | 60-247 | |||||||
| Exon_number | 1/4 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Y55D5A.5e.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5e.1:c.3473_4033del | |||||||
| HGVSp | CE50158:p.Tyr1158_Pro1345delinsSer | |||||||
| cDNA_position | 3473-4033 | |||||||
| CDS_position | 3473-4033 | |||||||
| Protein_position | 1158-1345 | |||||||
| Exon_number | 12/15 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Y55D5A.5f.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5f.1:c.1271_1831del | |||||||
| HGVSp | CE50215:p.Tyr424_Pro611delinsSer | |||||||
| cDNA_position | 1271-1831 | |||||||
| CDS_position | 1271-1831 | |||||||
| Protein_position | 424-611 | |||||||
| Exon_number | 5/8 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Y55D5A.5a.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5a.1:c.3701_4261del | |||||||
| HGVSp | CE46852:p.Tyr1234_Pro1421delinsSer | |||||||
| cDNA_position | 3799-4359 | |||||||
| CDS_position | 3701-4261 | |||||||
| Protein_position | 1234-1421 | |||||||
| Exon_number | 15/19 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Y55D5A.5c.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5c.1:c.3947_4507del | |||||||
| HGVSp | CE50204:p.Tyr1316_Pro1503delinsSer | |||||||
| cDNA_position | 4110-4670 | |||||||
| CDS_position | 3947-4507 | |||||||
| Protein_position | 1316-1503 | |||||||
| Exon_number | 17/21 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Y55D5A.5d.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | |||||||
| HGVSc | Y55D5A.5d.1:c.3560_4120del | |||||||
| HGVSp | CE50312:p.Tyr1187_Pro1374delinsSer | |||||||
| cDNA_position | 3560-4120 | |||||||
| CDS_position | 3560-4120 | |||||||
| Protein_position | 1187-1374 | |||||||
| Exon_number | 13/16 | |||||||
| Codon_change | tACAATGCAGACGATTGGGAGCTACGGCAGGATGATGTTGTGCTCGGACAACAGTGTGGAGAGGGATCATTCGGAAAAGTGTACCTAGGAACTGGAAATAATGTTGTTTCTCTGATGGGTGATCGTTTCGGACCGTGTGCTATTAAGATTAATGTAGATGATCCAGCGTCGACTGAGAATCTCAACTATCTCATGGAAGCTAATATTATGAAGAACTTTAAGACTAACTTTATCGTCAAACTGTACGGAGTTATCTCTACTGTACAACCAGCGATGGTTGTGATGGAAATGATGGATCTTGGAAATCTCCGTGACTATCTCCGATCGAAACGCGAAGACGAAGTGTTCAATGAGACGGACTGCAACTTTTTCGACATAATCCCGAGGGATAAATTCCATGAGTGGGCCGCACAGATTTGTGATGGTATGGCGTACCTGGAGTCGCTCAAGTTTTGCCATCGAGATCTCGCCGCACGTAATTGCATGATAAATCGGGATGAGACTGTCAAGATTGGAGATTTCGGAATGGCTCGTGATCTATTCTATCATGACTATTATAAGCca/tca | |||||||
| Amino_acid_change | YNADDWELRQDDVVLGQQCGEGSFGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYLMEANIMKNFKTNFIVKLYGVISTVQPAMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDIIPRDKFHEWAAQICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMARDLFYHDYYKP/S | |||||||
| Isolation | Mutagen | TMP/UV | ||||||
| Genetics | Map | III | ||||||
| Description | Phenotype | WBPhenotype:0000012 | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark | Comment from Dr. M. Zhen to the National Bioresource Project of Japan: constitutive dauer at 22 C. | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Phenotype_assay | Temperature | 22 | Person_evidence | WBPerson7743 | ||||
| Curator_confirmed | WBPerson712 | |||||||
| WBPhenotype:0000062 | 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: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 | |||||||
| Phenotype_not_observed | WBPhenotype:0000604 | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark | Comment from Dr. M. Zhen to the National Bioresource Project of Japan: No obvious defects in nervous system. | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| WBPhenotype:0000623 | Person_evidence | WBPerson7743 | ||||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark | Comment from Dr. M. Zhen to the National Bioresource Project of Japan: No obvious defects in nervous system. | Person_evidence | WBPerson7743 | |||||
| Curator_confirmed | WBPerson712 | |||||||
| Remark (2) | ||||||||
| Method | NBP_knockout_allele |
