|Institutional Source||Beutler Lab|
|Gene Name||acyl-Coenzyme A dehydrogenase, short chain|
|Synonyms||Bcd-1, Hdlq8, Bcd1, SCAD|
|Is this an essential gene?||Possibly non essential (E-score: 0.427)|
|Stock #||R7380 (G1)|
|Chromosomal Location||115110299-115119346 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 115110998 bp|
|Amino Acid Change||Glutamine to Histidine at position 365 (Q365H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031524 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031524]|
|Predicted Effect||probably damaging
AA Change: Q365H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Q365H
|Meta Mutation Damage Score||0.8777|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
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'- CAGGCCTCAAAGTTAAGCCATG -3'
(R):5'- AAGTGAAGGCATTGACTTTGC -3'
(F):5'- CCTCGGTCTGCAGGCAG -3'
(R):5'- GCATTGACTTTGCCGTTCTTG -3'