|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 3, subfamily a, polypeptide 13|
|Synonyms||steroid inducible, IIIAm2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5062 (G1)|
|Chromosomal Location||137892932-137921619 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 137898899 bp|
|Amino Acid Change||Asparagine to Lysine at position 384 (N384K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031741 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031741]|
|Predicted Effect||possibly damaging
AA Change: N384K
PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N384K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4809|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp3a13||
(F):5'- GTCTTCAGCACCAGGATACAAC -3'
(R):5'- GCTAAGGTCCTTTATCAATGTGAG -3'
(F):5'- CACATCAAAACTGGACTAGTCTGGG -3'
(R):5'- GGGTAGTGCAATAACTTAGTTCTCC -3'