|Institutional Source||Beutler Lab|
|Gene Name||acyl-Coenzyme A dehydrogenase, short chain|
|Synonyms||Bcd-1, Hdlq8, Bcd1, SCAD|
|Essential gene?||Possibly non essential (E-score: 0.434)|
|Stock #||R3112 (G1)|
|Chromosomal Location||115110299-115119346 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 115117698 bp (GRCm38)|
|Amino Acid Change||Histidine to Arginine at position 26 (H26R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031524 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031524] [ENSMUST00000060798]|
AA Change: H26R
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: H26R
|Meta Mutation Damage Score||0.0726|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the Acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acads||
(F):5'- ACACTGTGAGCCACTCTGAG -3'
(R):5'- ATCTTGACTTATTGCATAGGCTAGCC -3'
(F):5'- TGAGCCACTCTGAGCCACAC -3'
(R):5'- ATGTTGGGCAGCTCCTAATC -3'