|Institutional Source||Beutler Lab|
|Gene Name||fatty acid binding protein 6, ileal (gastrotropin)|
|Synonyms||I-BABP, ILBP3, Illbp, I-15P|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1448 (G1)|
|Chromosomal Location||43596049-43601540 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 43596165 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 112 (I112F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020672 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020672]|
|Predicted Effect||probably benign
AA Change: I112F
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: I112F
|Coding Region Coverage||
FUNCTION: The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. This protein functions within the ileum, the distal 25-30% of the small intestine, and plays a role in enterohepatic circulation of bile acids and cholesterol homeostasis. In humans, it has been reported that polymorphisms in FABP6 confer a protective effect in obese individuals from developing type 2 diabetes. In mice deficiency of this gene affects bile acid metabolism in a gender-specific manner and was reported to be required for efficient apical to basolateral transport of conjugated bile acids. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit sex-specific altered bile acid absorption and transport. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fabp6||
(F):5'- GCTTCCAAGGACATAGCACTGCAC -3'
(R):5'- TGACTCCCGTAACTGACAGGGAATC -3'
(F):5'- TTGGTAGAACCCTCAGGCATC -3'
(R):5'- CGTAACTGACAGGGAATCTAAGTTC -3'