|Institutional Source||Beutler Lab|
|Gene Name||dehydrogenase/reductase (SDR family) member 9|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R4582 (G1)|
|Chromosomal Location||69380445-69404533 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 69397653 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 204 (I204F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000069631 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063690]|
|Predicted Effect||probably damaging
AA Change: I204F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I204F
|Coding Region Coverage||
|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 short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhrs9||
(F):5'- CACCCTCCAGATAAGTTTGACTG -3'
(R):5'- ATTCTGACCAGGACAGGGGATC -3'
(F):5'- CTCCAGATAAGTTTGACTGAAACAC -3'
(R):5'- CAATGTAGCCCTCTCCAT -3'