WormBase Tree Display for Variation: WBVar00142903
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WBVar00142903 | Evidence | Paper_evidence | WBPaper00033138 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e5 | |||||
Other_name (21) | |||||||
HGVSg | CHROMOSOME_X:g.15124688G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | R07D5 | |||
Flanking_sequences | tccacgtgaaatttattcgcgtagaaatcga | aaattggctattaccaatgggtgccgtttat | |||||
Mapping_target | R07D5 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00033138 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004076 | ||||||
WBStrain00040856 | |||||||
WBStrain00054742 | |||||||
WBStrain00056070 | |||||||
Laboratory | CB | ||||||
OJ | |||||||
Status | Live | ||||||
Affects | Gene | WBGene00006747 | |||||
Transcript | R07D5.1i.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1i.1:c.508C>T | ||||||
HGVSp | CE51935:p.Gln170Ter | ||||||
cDNA_position | 899 | ||||||
CDS_position | 508 | ||||||
Protein_position | 170 | ||||||
Exon_number | 6/12 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1a.2 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1a.2:c.646C>T | ||||||
HGVSp | CE06279:p.Gln216Ter | ||||||
cDNA_position | 822 | ||||||
CDS_position | 646 | ||||||
Protein_position | 216 | ||||||
Exon_number | 6/12 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1f.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1f.1:c.469C>T | ||||||
HGVSp | CE51924:p.Gln157Ter | ||||||
cDNA_position | 469 | ||||||
CDS_position | 469 | ||||||
Protein_position | 157 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1h.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1h.1:c.508C>T | ||||||
HGVSp | CE51942:p.Gln170Ter | ||||||
cDNA_position | 508 | ||||||
CDS_position | 508 | ||||||
Protein_position | 170 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1c.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1c.1:c.286C>T | ||||||
HGVSp | CE44028:p.Gln96Ter | ||||||
cDNA_position | 767 | ||||||
CDS_position | 286 | ||||||
Protein_position | 96 | ||||||
Exon_number | 6/12 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1b.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1b.1:c.442C>T | ||||||
HGVSp | CE44016:p.Gln148Ter | ||||||
cDNA_position | 442 | ||||||
CDS_position | 442 | ||||||
Protein_position | 148 | ||||||
Exon_number | 4/9 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1a.1:c.646C>T | ||||||
HGVSp | CE06279:p.Gln216Ter | ||||||
cDNA_position | 723 | ||||||
CDS_position | 646 | ||||||
Protein_position | 216 | ||||||
Exon_number | 7/13 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1g.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1g.1:c.469C>T | ||||||
HGVSp | CE51958:p.Gln157Ter | ||||||
cDNA_position | 547 | ||||||
CDS_position | 469 | ||||||
Protein_position | 157 | ||||||
Exon_number | 6/12 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1d.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1d.1:c.718C>T | ||||||
HGVSp | CE51912:p.Gln240Ter | ||||||
cDNA_position | 718 | ||||||
CDS_position | 718 | ||||||
Protein_position | 240 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1e.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1e.1:c.718C>T | ||||||
HGVSp | CE51947:p.Gln240Ter | ||||||
cDNA_position | 718 | ||||||
CDS_position | 718 | ||||||
Protein_position | 240 | ||||||
Exon_number | 5/11 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
R07D5.1j.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | R07D5.1j.1:c.646C>T | ||||||
HGVSp | CE51917:p.Gln216Ter | ||||||
cDNA_position | 646 | ||||||
CDS_position | 646 | ||||||
Protein_position | 216 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
Interactor | WBInteraction000518923 | ||||||
WBInteraction000518930 | |||||||
Isolation | Mutagen | EMS | |||||
Genetics | Interpolated_map_position | X | 22.0113 | ||||
Mapping_data (2) | |||||||
Description | Phenotype (31) | ||||||
Phenotype_not_observed | WBPhenotype:0000637 | Paper_evidence | WBPaper00000214 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000641 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | active, healthy, e5/Df similar, null phenotype. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Variation_effect | Null | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000672 | Paper_evidence | WBPaper00033075 | |||||
Curator_confirmed | WBPerson2021 | ||||||
Remark | The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Variation_effect | Null | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
WBPhenotype:0001323 | Paper_evidence | WBPaper00033075 | |||||
Curator_confirmed | WBPerson2021 | ||||||
Remark | The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Variation_effect | Null | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
WBPhenotype:0001669 | Paper_evidence | WBPaper00033075 | |||||
Curator_confirmed | WBPerson2021 | ||||||
Remark | The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
Variation_effect | Null | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
WBPhenotype:0002014 | Paper_evidence | WBPaper00027055 | |||||
Curator_confirmed | WBPerson557 | ||||||
Remark | unc-7(e5) did not inhibit the electrical coupling of body wall muscle cells. | Paper_evidence | WBPaper00027055 | ||||
Curator_confirmed | WBPerson557 | ||||||
Reference (11) | |||||||
Method | Substitution_allele |