|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 39, subfamily a, polypeptide 1|
|Is this an essential gene?||Probably non essential (E-score: 0.076)|
|Stock #||R5197 (G1)|
|Chromosomal Location||43667425-43751431 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 43746538 bp|
|Amino Acid Change||Leucine to Valine at position 423 (L423V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130073 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170988]|
|Predicted Effect||possibly damaging
AA Change: L423V
PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: L423V
|Meta Mutation Damage Score||0.2493|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
|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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp39a1||
(F):5'- ACATATGTGCATGCATGTATCTGTG -3'
(R):5'- GGTCATCACTCAACACATGGC -3'
(F):5'- GTTCTAGCCTCTCAGAGCACATAC -3'
(R):5'- CACATGGCTAGTATTAAAAGCCAG -3'