|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 4, subfamily f, polypeptide 40|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R3903 (G1)|
|Chromosomal Location||32659410-32676687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 32659624 bp|
|Amino Acid Change||Arginine to Serine at position 47 (R47S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129536 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165061]|
|Predicted Effect||possibly damaging
AA Change: R47S
PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: R47S
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, CYP4F11, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp4f40||
(F):5'- TTCAGGAACTCACATTCTACCATC -3'
(R):5'- ATGAGGATCTCTGCACCCTC -3'
(F):5'- ACCATCTATCTCATAGGATGCG -3'
(R):5'- AATCCCCGACTTTCTGTCCATATAC -3'