|Institutional Source||Beutler Lab|
|Gene Name||24-dehydrocholesterol reductase|
|Synonyms||2310076D10Rik, seladin-1, 5830417J06Rik, 3-beta-hydroxysterol delta-24 reductase|
|Is this an essential gene?||Probably essential (E-score: 0.849)|
|Stock #||R3852 (G1)|
|Chromosomal Location||106561038-106589113 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 106573873 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 253 (E253G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038063 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047973]|
|Predicted Effect||probably benign
AA Change: E253G
PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: E253G
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (45/47)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dhcr24||
(F):5'- GGTCAAGCTCTCAGCCTATG -3'
(R):5'- CATTTCTGAGGAAGCCTGTTACC -3'
(F):5'- AAGCTCTCAGCCTATGCCAATTC -3'
(R):5'- TGAGGAAGCCTGTTACCTGCATC -3'