|Institutional Source||Beutler Lab|
|Gene Name||short chain dehydrogenase/reductase family 16C, member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.115)|
|Stock #||R3839 (G1)|
|Chromosomal Location||3995936-4019663 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 4006601 bp|
|Amino Acid Change||Methionine to Isoleucine at position 230 (M230I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046298 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040925]|
|Predicted Effect||probably damaging
AA Change: M230I
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: M230I
|Meta Mutation Damage Score||0.4314|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
|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 alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sdr16c5||
(F):5'- GGATGGGTACTAATTGGGCC -3'
(R):5'- CCAGTCAGACCTGAACACTTTAG -3'
(F):5'- GGGCCTTGTAATCATTATCAATCAGG -3'
(R):5'- AGTCAGACCTGAACACTTTAGCTCTC -3'