|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 17, subfamily a, polypeptide 1|
|Synonyms||steroid 17-alpha hydroxylase, p450c17, Cyp17|
|Is this an essential gene?||Probably non essential (E-score: 0.249)|
|Stock #||R7025 (G1)|
|Chromosomal Location||46667165-46672974 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 46670980 bp|
|Amino Acid Change||Aspartic acid to Valine at position 137 (D137V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026012 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026012]|
|Predicted Effect||probably damaging
AA Change: D137V
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: D137V
|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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos display early embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp17a1||
(F):5'- AGGGATCAGTCAACGCTGTC -3'
(R):5'- GGGATCTCACAGCACTCATCAG -3'
(F):5'- AGTCAACGCTGTCGCCTCTG -3'
(R):5'- GCACTCATCAGGACTGCAGATAG -3'