|Institutional Source||Beutler Lab|
|Gene Name||acetyl-Coenzyme A carboxylase beta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6942 (G1)|
|Chromosomal Location||114146535-114250761 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 114191963 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099642 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031583] [ENSMUST00000102582] [ENSMUST00000146841]|
|Meta Mutation Damage Score||0.9499|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acacb||
(F):5'- AGAGTCCTGAGACACTGGAGTG -3'
(R):5'- AAAAGCATCGGGAAGTCCTCTG -3'
(F):5'- ACTGGAGTGTGGCCGCTG -3'
(R):5'- GGAAGTCCTCTGCACTCTCAG -3'