WormBase Tree Display for Variation: WBVar00143776
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| WBVar00143776 | Evidence | Paper_evidence | WBPaper00006502 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e1147 | |||||||
| Other_name | CE07625:p.Pro16Ser | ||||||||
| ZK381.1a.1:c.46C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.6977571C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | ZK381 | |||||
| Flanking_sequences | cagattgttgagcaccgcgagtctgaaatt | ctatagccagccagtggaaggccacgtttc | |||||||
| Mapping_target | ZK381 | ||||||||
| Type_of_mutation | Substitution | c | t | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00004254 | ||||||||
| WBStrain00007736 | |||||||||
| WBStrain00007747 | |||||||||
| WBStrain00007748 | |||||||||
| WBStrain00007750 | |||||||||
| WBStrain00007751 | |||||||||
| WBStrain00007752 | |||||||||
| WBStrain00007753 | |||||||||
| WBStrain00007754 | |||||||||
| WBStrain00007755 | |||||||||
| WBStrain00007756 | |||||||||
| WBStrain00007757 | |||||||||
| WBStrain00007758 | |||||||||
| WBStrain00007759 | |||||||||
| WBStrain00007760 | |||||||||
| WBStrain00007761 | |||||||||
| WBStrain00007762 | |||||||||
| WBStrain00007763 | |||||||||
| WBStrain00007764 | |||||||||
| WBStrain00007765 | |||||||||
| WBStrain00007766 | |||||||||
| WBStrain00007767 | |||||||||
| WBStrain00007768 | |||||||||
| WBStrain00007769 | |||||||||
| WBStrain00007770 | |||||||||
| WBStrain00007771 | |||||||||
| WBStrain00007772 | |||||||||
| WBStrain00007774 | |||||||||
| WBStrain00007775 | |||||||||
| WBStrain00007776 | |||||||||
| WBStrain00007777 | |||||||||
| WBStrain00007778 | |||||||||
| WBStrain00007779 | |||||||||
| WBStrain00007780 | |||||||||
| WBStrain00007781 | |||||||||
| WBStrain00007782 | |||||||||
| WBStrain00007783 | |||||||||
| WBStrain00007784 | |||||||||
| WBStrain00007785 | |||||||||
| WBStrain00007786 | |||||||||
| WBStrain00007787 | |||||||||
| WBStrain00007788 | |||||||||
| WBStrain00007789 | |||||||||
| WBStrain00007790 | |||||||||
| WBStrain00007791 | |||||||||
| WBStrain00007792 | |||||||||
| WBStrain00007793 | |||||||||
| WBStrain00007794 | |||||||||
| WBStrain00007795 | |||||||||
| WBStrain00007796 | |||||||||
| WBStrain00007797 | |||||||||
| WBStrain00007798 | |||||||||
| WBStrain00007799 | |||||||||
| WBStrain00007800 | |||||||||
| WBStrain00007801 | |||||||||
| WBStrain00007802 | |||||||||
| WBStrain00007803 | |||||||||
| WBStrain00007804 | |||||||||
| WBStrain00007805 | |||||||||
| WBStrain00022393 | |||||||||
| WBStrain00022394 | |||||||||
| WBStrain00022395 | |||||||||
| WBStrain00022396 | |||||||||
| WBStrain00026486 | |||||||||
| WBStrain00034433 | |||||||||
| WBStrain00034448 | |||||||||
| WBStrain00034449 | |||||||||
| WBStrain00034453 | |||||||||
| WBStrain00035077 | |||||||||
| WBStrain00035080 | |||||||||
| WBStrain00035081 | |||||||||
| WBStrain00035082 | |||||||||
| WBStrain00035083 | |||||||||
| WBStrain00035085 | |||||||||
| WBStrain00051659 | |||||||||
| WBStrain00051660 | |||||||||
| WBStrain00051661 | |||||||||
| WBStrain00051668 | |||||||||
| WBStrain00051669 | |||||||||
| WBStrain00051670 | |||||||||
| WBStrain00051674 | |||||||||
| WBStrain00051678 | |||||||||
| WBStrain00051679 | |||||||||
| WBStrain00051680 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00001862 | |||||||
| Transcript | ZK381.1a.1 | VEP_consequence | missense_variant | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | ZK381.1a.1:c.46C>T | ||||||||
| HGVSp | CE07625:p.Pro16Ser | ||||||||
| cDNA_position | 64 | ||||||||
| CDS_position | 46 | ||||||||
| Protein_position | 16 | ||||||||
| Exon_number | 2/6 | ||||||||
| Codon_change | Cct/Tct | ||||||||
| Amino_acid_change | P/S | ||||||||
| Genetics | Interpolated_map_position | IV | 3.26837 | ||||||
| Mapping_data | In_multi_point (2) | ||||||||
| Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00000179 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | 1.4% eggs never hatch, yet are refractile; wild type animals produce 0.8% inviable zygotes. | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000863 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Males exhibit 74.1% wild type fertility. | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00000179 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001175 | Paper_evidence | WBPaper00000565 | |||||||
| WBPaper00000179 | |||||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Male self-progeny make up 2.6% population as measured from 4 broods, 1028 total animals. | Paper_evidence | WBPaper00000565 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Animals segregate 3.5% males compared to 0.3% segregated by wild type animals. | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Self-progeny 3.5% XO male. Difficult to score (ES2) in progeny. | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Ease_of_scoring | ES2_Difficult_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001583 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals segregate a small percentage (1.1%) of short animals shown to be 3X hermaphrodites (wild type segregates 0.04% 3X herm.). | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000179 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001631 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | 2% ova are nullo-X. | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000143 | Paper_evidence | WBPaper00000565 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Treatment | UV sensitivities were measured as % survival based on radiation dose. Alkaline bleach isolated eggs ranging in age from 30-180 minutes were aliquoted to plates to give between 25-300 survivors/plate. The plated eggs were irradiated at different doses at a rate of 1Jm 10X-2/sec. Irradiated animals were protected from light. Survival was scored as the % animals reaching adulthood 4-6 days after irradiation relative to un-irradiated controls. | Paper_evidence | WBPaper00000565 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000154 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals have an average brood size of 35329 s.d. (6 broods counted), wild type has average brood size 33034 s.d. (8 broods counted). | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000179 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000276 | Paper_evidence | WBPaper00000565 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Treatment | X-ray sensitivities were measured as % survival based on radiation dose. Alkaline bleach isolated eggs ranging in age from 30-180 minutes were aliquoted to plates to give between 25-300 survivors/plate. The plated eggs were irradiated at different doses at a rate of 470 r/min. Survival was scored as the % animals reaching adulthood 4-6 days after irradiation relative to un-irradiated controls. | Paper_evidence | WBPaper00000565 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000517 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals are indistinguishable from wild type in terms of behavior. | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000520 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Both hermaphrodites and males are indistinguishable from wild type in terms of superficial anatomy. | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001631 | Paper_evidence | WBPaper00000179 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | The sex ratio of cross progeny sired by him males does not significantly differ from 1:1. | Paper_evidence | WBPaper00000179 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00000179 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00015329 | ||||||||
| WBPaper00000565 | |||||||||
| WBPaper00016279 | |||||||||
| WBPaper00013698 | |||||||||
| WBPaper00000179 | |||||||||
| WBPaper00011748 | |||||||||
| WBPaper00011726 | |||||||||
| Method | Substitution_allele |
