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WormBase Tree Display for Variation: WBVar00143365

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WBVar00143365	Evidence	Paper_evidence	WBPaper00005629
	Name	Public_name	e644
		Other_name	T28F12.2h.1:c.1015-332G>A
			CE37795:p.Trp336Ter
			T28F12.2g.1:c.1007G>A
			T28F12.2c.1:c.-317G>A
			T28F12.2c.2:c.-317G>A
			T28F12.2d.6:c.-131G>A
			T28F12.2d.4:c.-111-332G>A
			T28F12.2f.1:c.1237-332G>A
			T28F12.2e.1:c.1126-332G>A
			T28F12.2d.1:c.-111-332G>A
			T28F12.2d.8:c.-111-332G>A
			T28F12.2d.5:c.-131G>A
			T28F12.2a.1:c.1229G>A
			CE21219:p.Trp410Ter
			T28F12.2d.7:c.-111-332G>A
			CE21220:p.Trp373Ter
			T28F12.2d.2:c.-131G>A
			T28F12.2d.3:c.-131G>A
			T28F12.2d.9:c.-131G>A
			T28F12.2b.1:c.1118G>A
		HGVSg	CHROMOSOME_V:g.4505497G>A
	Sequence_details	SMap	S_parent	Sequence	T28F12
		Flanking_sequences	caaaggaggcgattaccaaattccgcgcgt	gttatttcacaatttgacggtaagggtgca
		Mapping_target	T28F12
		Type_of_mutation	Substitution	g	a	Paper_evidence	WBPaper00005629
		SeqStatus	Sequenced
	Variation_type	Allele
	Origin	Species	Caenorhabditis elegans
		Strain	WBStrain00004189
			WBStrain00004365
			WBStrain00034029
			WBStrain00034031
		Laboratory	CB
		Status	Live
	Affects	Gene	WBGene00006796
		Transcript	T28F12.2d.7	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.7:c.-111-332G>A
				Intron_number	3/7
			T28F12.2a.1	VEP_consequence	stop_gained
				VEP_impact	HIGH
				HGVSc	T28F12.2a.1:c.1229G>A
				HGVSp	CE21219:p.Trp410Ter
				cDNA_position	1233
				CDS_position	1229
				Protein_position	410
				Exon_number	8/12
				Codon_change	tGg/tAg
				Amino_acid_change	W/*
			T28F12.2b.1	VEP_consequence	stop_gained
				VEP_impact	HIGH
				HGVSc	T28F12.2b.1:c.1118G>A
				HGVSp	CE21220:p.Trp373Ter
				cDNA_position	1584
				CDS_position	1118
				Protein_position	373
				Exon_number	8/12
				Codon_change	tGg/tAg
				Amino_acid_change	W/*
			T28F12.2d.2	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.2:c.-131G>A
				cDNA_position	1241
				Exon_number	7/12
			T28F12.2d.3	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.3:c.-131G>A
				cDNA_position	1593
				Exon_number	7/12
			T28F12.2d.8	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.8:c.-111-332G>A
				Intron_number	2/6
			T28F12.2c.2	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2c.2:c.-317G>A
				cDNA_position	1426
				Exon_number	7/11
			T28F12.2d.9	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.9:c.-131G>A
				cDNA_position	738
				Exon_number	1/6
			T28F12.2h.1	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2h.1:c.1015-332G>A
				Intron_number	6/8
			T28F12.2d.4	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.4:c.-111-332G>A
				Intron_number	7/11
			T28F12.2e.1	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2e.1:c.1126-332G>A
				Intron_number	7/9
			T28F12.2d.1	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.1:c.-111-332G>A
				Intron_number	7/11
			T28F12.2c.1	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2c.1:c.-317G>A
				cDNA_position	1611
				Exon_number	7/11
			T28F12.2d.5	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.5:c.-131G>A
				cDNA_position	1113
				Exon_number	6/11
			T28F12.2d.6	VEP_consequence	5_prime_UTR_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2d.6:c.-131G>A
				cDNA_position	777
				Exon_number	4/9
			T28F12.2g.1	VEP_consequence	stop_gained
				VEP_impact	HIGH
				HGVSc	T28F12.2g.1:c.1007G>A
				HGVSp	CE37795:p.Trp336Ter
				cDNA_position	1007
				CDS_position	1007
				Protein_position	336
				Exon_number	6/9
				Codon_change	tGg/tAg
				Amino_acid_change	W/*
			T28F12.2f.1	VEP_consequence	intron_variant
				VEP_impact	MODIFIER
				HGVSc	T28F12.2f.1:c.1237-332G>A
				Intron_number	8/10
		Interactor	WBInteraction000007722
			WBInteraction000051964
			WBInteraction000052185
			WBInteraction000052340
			WBInteraction000052341
			WBInteraction000501054
			WBInteraction000501055
			WBInteraction000501056
	Genetics	Interpolated_map_position	V	-5.18024
		Mapping_data	In_2_point	125
			In_multi_point	143
				1524
				3277
			In_pos_neg_data	846
				2870
				2871
				2872
	Description	Phenotype	WBPhenotype:0000050	Paper_evidence	WBPaper00025190
				Curator_confirmed	WBPerson712
				Penetrance	Incomplete		Paper_evidence	WBPaper00025190
							Curator_confirmed	WBPerson712
			WBPhenotype:0000070	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	male tail abnormal	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
			WBPhenotype:0000342	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	bursa small	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
			WBPhenotype:0000583	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	slightly dumpy	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
			WBPhenotype:0000643	Paper_evidence	WBPaper00000031
					WBPaper00001474
				Person_evidence	WBPerson261
				Curator_confirmed	WBPerson48
					WBPerson712
				Remark	irregular, sometimes rippling movement, especially in reverse	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
					Unc	Paper_evidence	WBPaper00001474
						Curator_confirmed	WBPerson712
			WBPhenotype:0000646	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	slightly slow	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
				Ease_of_scoring	ES2_Difficult_to_score	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
			WBPhenotype:0001226	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	variable abnormalities in VD and DD commissures	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
				EQ_annotations	Anatomy_term	WBbt:0005303	PATO:0000460	Person_evidence	WBPerson261
								Curator_confirmed	WBPerson712
						WBbt:0005270	PATO:0000460	Person_evidence	WBPerson261
								Curator_confirmed	WBPerson712
			WBPhenotype:0001364	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	fan reduced	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
			WBPhenotype:0001492	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	19% of embryos Nob	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
				Penetrance	Incomplete	19%	Person_evidence	WBPerson261
							Curator_confirmed	WBPerson712
			WBPhenotype:0001509	Person_evidence	WBPerson261
				Curator_confirmed	WBPerson712
				Remark	rays variably absent	Person_evidence	WBPerson261
						Curator_confirmed	WBPerson712
		Phenotype_not_observed	WBPhenotype:0000062	Paper_evidence	WBPaper00001474
				Curator_confirmed	WBPerson712
				Remark	viable Unc allele	Paper_evidence	WBPaper00001474
						Curator_confirmed	WBPerson712
			WBPhenotype:0001660	Paper_evidence	WBPaper00006052
				Curator_confirmed	WBPerson2021
				Remark	No disruption of ASE asymmetry (as seen with lim-6 reporters)	Paper_evidence	WBPaper00006052
						Curator_confirmed	WBPerson2021
				Variation_effect	Hypomorph_reduction_of_function	Paper_evidence	WBPaper00006052
						Curator_confirmed	WBPerson2021
				Phenotype_assay	Genotype	otIs114, otIs6	Paper_evidence	WBPaper00006052
							Curator_confirmed	WBPerson2021
	Reference	WBPaper00001474
		WBPaper00000031
		WBPaper00006052
		WBPaper00005629
		WBPaper00016871
		WBPaper00018977
		WBPaper00025190
		WBPaper00016473
		WBPaper00015106
		WBPaper00010953
		WBPaper00015436
		WBPaper00022123
	Method	Substitution_allele