|Institutional Source||Beutler Lab|
|Gene Name||aldo-keto reductase family 1, member C6|
|Synonyms||3alpha-HSD, estradiol 17-beta-dehydrogenase (A-specific), Hsd17b5, Akr1c1|
|Is this an essential gene?||Probably non essential (E-score: 0.059)|
|Stock #||R1442 (G1)|
|Chromosomal Location||4434306-4457877 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 4457160 bp|
|Amino Acid Change||Histidine to Leucine at position 314 (H314L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021630 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021630] [ENSMUST00000223118]|
|Predicted Effect||probably damaging
AA Change: H314L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: H314L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akr1c6||
(F):5'- GTCCCAGGAAAGGCAGCATGATATG -3'
(R):5'- CCTTCCAAGATGCACATGGCTCAG -3'
(F):5'- AAGGCAGCATGATATGAATTTAGG -3'
(R):5'- GCACATGGCTCAGGATAAGTTG -3'