|Institutional Source||Beutler Lab|
|Gene Name||fatty acid binding protein 1, liver|
|Is this an essential gene?||Probably non essential (E-score: 0.211)|
|Stock #||R3437 (G1)|
|Chromosomal Location||71199827-71205023 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 71201611 bp|
|Amino Acid Change||Leucine to Proline at position 24 (L24P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064655 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067492]|
|Predicted Effect||probably benign
AA Change: L24P
PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: L24P
|Meta Mutation Damage Score||0.164|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene do not show any obvious morphological, behavioral, or reproductive abnormalities. Changes may be observed in lipid composition, lipid binding, or levels of lipid binding proteins. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fabp1||
(F):5'- CACAGAGGGAAGGGTCTTTAC -3'
(R):5'- GGAGGTGGAACTACATACCTTG -3'
(F):5'- TTGCCTAGCATGCATGAAGC -3'
(R):5'- GTGGAACTACATACCTTGACTTTTTC -3'