|Institutional Source||Beutler Lab|
|Gene Name||cytochrome P450, family 7, subfamily b, polypeptide 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4877 (G1)|
|Chromosomal Location||18071950-18243338 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 18097293 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 252 (V252E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037487 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035625]|
|Predicted Effect||probably damaging
AA Change: V252E
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V252E
|Meta Mutation Damage Score||0.0388|
|Coding Region Coverage||
|Validation Efficiency||100% (76/76)|
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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyp7b1||
(F):5'- AGGCTTCTGAAGTCTAATTTTCTGC -3'
(R):5'- TGCATTCTGTGGCTCACTGG -3'
(F):5'- GGAGTAAATGCCACTTAGTTATACTC -3'
(R):5'- GGCTCACTGGTATTTGAGATCAC -3'