|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 #||R2048 (G1)|
|Chromosomal Location||137892932-137921619 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 137909975 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 204 (V204E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031741 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031741]|
|Predicted Effect||probably damaging
AA Change: V204E
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: V204E
|Meta Mutation Damage Score||0.7722|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
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'- ACCCACAGTCCCTTCAGTCC -3'
(R):5'- GACATGTGAACTTACTACTGCTTCAT -3'
(F):5'- ATGTTCCACAGCTAGCAGTG -3'
(R):5'- GAACTTACTACTGCTTCATACTCTG -3'