WormBase Tree Display for Variation: WBVar00249611
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WBVar00249611 | Name | Public_name | tm574 | ||||||
---|---|---|---|---|---|---|---|---|---|
Other_name | CE29521:p.Gly37LysfsTer10 | ||||||||
T07G12.10.1:c.109_523del | |||||||||
T07G12.10.3:c.109_523del | |||||||||
T07G12.10.2:c.109_523del | |||||||||
HGVSg | CHROMOSOME_IV:g.10555819_10556233del | ||||||||
Sequence_details | SMap | S_parent | Sequence | T07G12 | |||||
Flanking_sequences | ttccaaagtacatattttcagaacaatgtc | aaaatggtttggatcgaaagtttacaatgaacatgacagaaagaatttccgaaattgattcgaattatct | |||||||
Mapping_target | T07G12 | ||||||||
Source_location | 7 | CHROMOSOME_IV | 10555818 | 10556234 | Inferred_automatically | National_Bioresource_Project | |||
Type_of_mutation | Deletion | ||||||||
PCR_product | tm574_external | ||||||||
tm574_internal | |||||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004045 | ||||||||
Laboratory | FX | ||||||||
Author | Mitani S | ||||||||
DB_info | Database | National_Bioresource_Project | seq | 574 | |||||
NBP_allele | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00305591 | |||||||
WBGene00011600 | |||||||||
Transcript | T07G12.20 | ||||||||
T07G12.10.1 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T07G12.10.1:c.109_523del | ||||||||
HGVSp | CE29521:p.Gly37LysfsTer10 | ||||||||
cDNA_position | 109-523 | ||||||||
CDS_position | 109-523 | ||||||||
Protein_position | 37-175 | ||||||||
Exon_number | 2/8 | ||||||||
Codon_change | GGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa | ||||||||
Amino_acid_change | GCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X | ||||||||
T07G12.10.3 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T07G12.10.3:c.109_523del | ||||||||
HGVSp | CE29521:p.Gly37LysfsTer10 | ||||||||
cDNA_position | 511-925 | ||||||||
CDS_position | 109-523 | ||||||||
Protein_position | 37-175 | ||||||||
Exon_number | 3/10 | ||||||||
Codon_change | GGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa | ||||||||
Amino_acid_change | GCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X | ||||||||
T07G12.10.2 | VEP_consequence | frameshift_variant | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | T07G12.10.2:c.109_523del | ||||||||
HGVSp | CE29521:p.Gly37LysfsTer10 | ||||||||
cDNA_position | 109-523 | ||||||||
CDS_position | 109-523 | ||||||||
Protein_position | 37-175 | ||||||||
Exon_number | 2/9 | ||||||||
Codon_change | GGCTGCTCCAAGCTTTGGATTGTGGAGGGATCCGTGTGCACCAGCTCAACTCCTGAAAGCTCTACATATTCTGAAAAACGTACAATCGAACCAGTTGTTTCACTAAGTACAACTCTGGCCACTAACAAGCTTCCTCGATTTTCAACTCCTGCTGTCGGCCATTCAAAATATAATTCTGCAAAAAATTTCACATTGAATTTGGCTGAGAAGCTATCGGAGATTCTATCGGATGACGATAAAACTGATAAATGCCTGGAGAACTCTTATCAATCCGAAACTTCCAGGGAAGACGTGATTCAGGATTTGCTCGAAGAAATGGTACAAACTGTTGCCGATGTTGATCAAGCTCCGATTCTTTTGAGCACAACTCTCGCAAATATTGGTGTTCCCCGCTTTTCAACTCCCATCAAACCACaa/aa | ||||||||
Amino_acid_change | GCSKLWIVEGSVCTSSTPESSTYSEKRTIEPVVSLSTTLATNKLPRFSTPAVGHSKYNSAKNFTLNLAEKLSEILSDDDKTDKCLENSYQSETSREDVIQDLLEEMVQTVADVDQAPILLSTTLANIGVPRFSTPIKPQ/X | ||||||||
Isolation | Mutagen | TMP/UV | |||||||
Genetics | Map | IV | |||||||
Mapping_data | In_multi_point | 5415 | |||||||
Description | Phenotype | WBPhenotype:0000050 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: 32% inviable embryos due to autosomal nondisjunction during meiosis. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Incomplete | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Range | 32 | 32 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0000206 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: 32% inviable embryos due to autosomal nondisjunction during meiosis. These are due to specific failure of chromosome V to pair and synapsis during meiosis. | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0001175 | Person_evidence | WBPerson7743 | |||||||
Curator_confirmed | WBPerson48 | ||||||||
Remark | Comment from Dr. A. Dernburg to the National Bioresource Project of Japan: weak Him (1.3%). | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Penetrance | Low | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Range | 1 | 1 | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson48 | ||||||||
WBPhenotype:0001348 | Paper_evidence | WBPaper00035521 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | In zim-2 XX hermaphrodite germ lines, H3dimethylK9 as modestly enriched on two chromosomes, which presumably represent the unpaired Vs, in pachytene, and was redistributed throughout the nucleus in late pachytene-diplotene. | Paper_evidence | WBPaper00035521 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson48 | ||||||||
Reference | WBPaper00035521 | ||||||||
Remark | 27386/27387-27801/27802 (415 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 |