|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosyltransferase 4|
|Synonyms||DO, 4432404K01Rik, DOK1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6265 (G1)|
|Chromosomal Location||136848451-136857733 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 136854888 bp|
|Amino Acid Change||Asparagine to Threonine at position 85 (N85T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032341 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032341]|
|Predicted Effect||probably damaging
AA Change: N85T
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: N85T
|Meta Mutation Damage Score||0.2559|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Art4||
(F):5'- ACACAGACTGCCGTTCTTTG -3'
(R):5'- CTCCTCTTAAGGTCGACGTG -3'
(F):5'- ACACAGACTGCCGTTCTTTGTAGAG -3'
(R):5'- GACGTGGACTTGACACCTGATTC -3'