Incidental Mutation 'IGL00902:Fabp6'
ID 28485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fabp6
Ensembl Gene ENSMUSG00000020405
Gene Name fatty acid binding protein 6
Synonyms Illbp, I-BABP, gastrotropin, ILBP3, I-15P
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00902
Quality Score
Status
Chromosome 11
Chromosomal Location 43486876-43492367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43489543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 33 (R33C)
Ref Sequence ENSEMBL: ENSMUSP00000020672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020672]
AlphaFold P51162
Predicted Effect probably damaging
Transcript: ENSMUST00000020672
AA Change: R33C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020672
Gene: ENSMUSG00000020405
AA Change: R33C

DomainStartEndE-ValueType
Pfam:Lipocalin_7 1 128 6.8e-83 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T G 9: 90,070,847 (GRCm39) probably null Het
Akap11 A G 14: 78,733,278 (GRCm39) S1876P probably benign Het
Bltp1 G A 3: 37,095,494 (GRCm39) G1001D probably damaging Het
Capn10 A G 1: 92,870,281 (GRCm39) I256V probably benign Het
Catsperg2 T A 7: 29,400,568 (GRCm39) H262L possibly damaging Het
Col22a1 C A 15: 71,836,508 (GRCm39) G509V probably damaging Het
Dab2ip T C 2: 35,607,124 (GRCm39) F523S probably damaging Het
Dbnl G T 11: 5,748,105 (GRCm39) A313S probably benign Het
Ddo T C 10: 40,523,550 (GRCm39) V180A probably damaging Het
Enox1 A G 14: 77,819,844 (GRCm39) M200V possibly damaging Het
Gm9104 T C 17: 45,776,940 (GRCm39) probably benign Het
Gspt1 C T 16: 11,050,443 (GRCm39) V303I probably damaging Het
Igf2r C T 17: 12,919,245 (GRCm39) C1469Y probably damaging Het
Igflr1 T C 7: 30,266,700 (GRCm39) S183P possibly damaging Het
Itga6 T C 2: 71,679,738 (GRCm39) V1001A probably benign Het
Itih1 G A 14: 30,654,439 (GRCm39) probably benign Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrp5 T C 19: 3,650,774 (GRCm39) N1220S probably damaging Het
Marchf6 A G 15: 31,485,124 (GRCm39) Y434H probably damaging Het
Mbd1 A G 18: 74,408,310 (GRCm39) Y211C possibly damaging Het
Mpeg1 C A 19: 12,439,133 (GRCm39) A197D probably damaging Het
Mroh2b T A 15: 4,944,704 (GRCm39) L435Q probably damaging Het
Mss51 A C 14: 20,536,235 (GRCm39) M160R probably damaging Het
Ndufs7 T G 10: 80,091,839 (GRCm39) Y190* probably null Het
Or6c38 T A 10: 128,929,265 (GRCm39) I193L probably benign Het
Or9g4b T C 2: 85,616,461 (GRCm39) M202T probably benign Het
Pcdh17 A G 14: 84,684,289 (GRCm39) E252G probably damaging Het
Ric1 T C 19: 29,544,631 (GRCm39) V151A probably benign Het
Sgo2a A G 1: 58,055,258 (GRCm39) T481A probably benign Het
Slc5a8 A G 10: 88,755,323 (GRCm39) T477A probably benign Het
Smg5 G A 3: 88,260,392 (GRCm39) V661I probably benign Het
Snx19 A T 9: 30,340,028 (GRCm39) I389F possibly damaging Het
Spem1 A T 11: 69,712,643 (GRCm39) I64N probably damaging Het
Thada A T 17: 84,755,404 (GRCm39) M262K probably damaging Het
Uox A G 3: 146,316,161 (GRCm39) D32G possibly damaging Het
Usp42 A T 5: 143,705,629 (GRCm39) probably benign Het
Usp43 G A 11: 67,782,245 (GRCm39) P391L probably benign Het
Vmn2r56 T C 7: 12,449,426 (GRCm39) S271G probably benign Het
Wdr64 T A 1: 175,556,391 (GRCm39) C213S probably damaging Het
Zfp26 A T 9: 20,350,844 (GRCm39) S194T possibly damaging Het
Other mutations in Fabp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1448:Fabp6 UTSW 11 43,486,992 (GRCm39) missense probably benign 0.01
R1907:Fabp6 UTSW 11 43,486,994 (GRCm39) critical splice acceptor site probably null
R8095:Fabp6 UTSW 11 43,489,543 (GRCm39) missense probably damaging 1.00
R8910:Fabp6 UTSW 11 43,492,335 (GRCm39) missense possibly damaging 0.65
R9220:Fabp6 UTSW 11 43,489,572 (GRCm39) missense probably benign 0.22
Posted On 2013-04-17