|Institutional Source||Beutler Lab|
|Gene Name||apolipoprotein A-IV|
|Essential gene?||Probably non essential (E-score: 0.149)|
|Stock #||R0001 (G1)|
|Chromosomal Location||46240696-46243459 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 46242892 bp (GRCm38)|
|Amino Acid Change||Glutamine to Lysine at position 264 (Q264K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034585 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034585]|
AA Change: Q264K
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: Q264K
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene have lower HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Apoa4||
(F):5'- ATGTGGACAACCTGCACACCTC -3'
(R):5'- CAGAGCCTTGTTGAACATCTCTCCC -3'
(F):5'- TGCACACCTCGATGATGC -3'
(R):5'- CATGGGCTCCACAGTGC -3'