|Institutional Source||Beutler Lab|
|Gene Name||aldo-keto reductase family 1, member D1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5226 (G1)|
|Chromosomal Location||37530173-37568815 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 37536014 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000048830 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040987]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akr1d1||
(F):5'- CACCAAATGAGACTGTGGAAC -3'
(R):5'- CCTCCCATCTATGGTAGCAAAC -3'
(F):5'- AACAGTGGATTGTCATGGCG -3'
(R):5'- GGTAGCAAACATTATAGCATTCAGTG -3'