|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 26, subfamily c, polypeptide 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4687 (G1)|
|Chromosomal Location||37685581-37693398 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 37692937 bp|
|Amino Acid Change||Glutamine to Arginine at position 396 (Q396R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000073105 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025946] [ENSMUST00000073391]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: Q396R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Q396R
|Coding Region Coverage||
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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp26c1||
(F):5'- AAGGCGCCAAGGAGATTCTG -3'
(R):5'- TGTGTACGCATCAGCTACTGG -3'
(F):5'- GCGCCAAGGAGATTCTGCAATC -3'
(R):5'- TCTGCATTACGGGGAAGGC -3'