WormBase Tree Display for Variation: WBVar00142960
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WBVar00142960 | Evidence | Person_evidence | WBPerson21026 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e101 | |||||
Other_name | R12H7.1a.2:c.1039-1G>A | ||||||
R12H7.1a.1:c.1039-1G>A | |||||||
R12H7.1b.1:c.847-1G>A | |||||||
HGVSg | CHROMOSOME_X:g.13215704G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | R12H7 | |||
Flanking_sequences | ttacactgaccgaaattaaaccccatttca | gatggtgttttcctacttcgtatggttgca | |||||
Mapping_target | R12H7 | ||||||
Type_of_mutation | Substitution | g | a | Person_evidence | WBPerson21026 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain (19) | |||||||
Laboratory | CB | ||||||
OJ | |||||||
Status | Live | ||||||
Affects | Gene | WBGene00006749 | |||||
Transcript | R12H7.1a.2 | VEP_consequence | splice_acceptor_variant | ||||
VEP_impact | HIGH | ||||||
HGVSc | R12H7.1a.2:c.1039-1G>A | ||||||
Intron_number | 9/10 | ||||||
R12H7.1a.1 | VEP_consequence | splice_acceptor_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | R12H7.1a.1:c.1039-1G>A | ||||||
Intron_number | 8/9 | ||||||
R12H7.1b.1 | VEP_consequence | splice_acceptor_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | R12H7.1b.1:c.847-1G>A | ||||||
Intron_number | 5/5 | ||||||
Interactor | WBInteraction000052321 | ||||||
WBInteraction000052323 | |||||||
WBInteraction000052325 | |||||||
WBInteraction000518927 | |||||||
WBInteraction000518931 | |||||||
Isolation | Mutagen | EMS | |||||
Genetics | Interpolated_map_position | X | 10.3258 | ||||
Mapping_data | In_2_point (11) | ||||||
In_multi_point (35) | |||||||
In_pos_neg_data (19) | |||||||
Description | Phenotype | WBPhenotype:0000002 | Person_evidence | WBPerson21026 | |||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000164 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0000324 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0000543 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moves backward better than forward slight kinker in forward movement. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000641 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Active, healthy. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000643 | Paper_evidence (2) | ||||||
Curator_confirmed | WBPerson48 | ||||||
WBPerson712 | |||||||
WBPhenotype:0000847 | Paper_evidence | WBPaper00033075 | |||||
Curator_confirmed | WBPerson2021 | ||||||
Remark | unc-9 is required for the even distribution of GFP::SYD-2 and UNC-10 active zone markers | Paper_evidence | WBPaper00033075 | ||||
Curator_confirmed | WBPerson2021 | ||||||
WBPhenotype:0001364 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Male fan slightly reduced. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001522 | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Male spicules tend to protrude. | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001639 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0001716 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002284 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002288 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002292 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002295 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002300 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002301 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002310 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002312 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002323 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002335 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002344 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002347 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0002348 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
WBPhenotype:0004022 | Paper_evidence | WBPaper00043908 | |||||
Curator_confirmed | WBPerson2987 | ||||||
Phenotype_not_observed (2) | |||||||
Reference | WBPaper00043908 | ||||||
WBPaper00013842 | |||||||
WBPaper00000031 | |||||||
WBPaper00000958 | |||||||
WBPaper00016500 | |||||||
WBPaper00002358 | |||||||
WBPaper00025689 | |||||||
WBPaper00033075 | |||||||
WBPaper00065757 | |||||||
Method | Substitution_allele |