Incidental Mutation 'R0422:Fabp1'
ID 37119
Institutional Source Beutler Lab
Gene Symbol Fabp1
Ensembl Gene ENSMUSG00000054422
Gene Name fatty acid binding protein 1, liver
Synonyms L-FABP, Fabpl
MMRRC Submission 038624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R0422 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 71176863-71182018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71180077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 83 (V83I)
Ref Sequence ENSEMBL: ENSMUSP00000064655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067492]
AlphaFold P12710
Predicted Effect possibly damaging
Transcript: ENSMUST00000067492
AA Change: V83I

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064655
Gene: ENSMUSG00000054422
AA Change: V83I

DomainStartEndE-ValueType
Pfam:Lipocalin_7 1 127 1.2e-32 PFAM
Pfam:Lipocalin 4 127 8.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype 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
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,372,963 (GRCm39) Y155* probably null Het
Adamts16 A G 13: 70,887,074 (GRCm39) C937R probably damaging Het
Akna T C 4: 63,310,391 (GRCm39) D451G probably damaging Het
Alox12 A T 11: 70,145,384 (GRCm39) V63E probably damaging Het
Ap3b1 T C 13: 94,598,968 (GRCm39) I514T probably damaging Het
Arhgap23 T C 11: 97,354,478 (GRCm39) M286T probably damaging Het
Cdkl2 T C 5: 92,168,171 (GRCm39) D341G probably benign Het
Clip2 T C 5: 134,526,967 (GRCm39) D813G probably benign Het
Cntnap3 A G 13: 64,905,099 (GRCm39) V894A probably damaging Het
Coro2b T A 9: 62,335,259 (GRCm39) Y304F probably benign Het
Dclre1a T A 19: 56,532,567 (GRCm39) K676* probably null Het
Dmxl2 A G 9: 54,307,224 (GRCm39) probably null Het
Dpep3 A G 8: 106,702,750 (GRCm39) probably null Het
Efna5 C T 17: 62,914,414 (GRCm39) A177T probably benign Het
H2-DMa G T 17: 34,356,921 (GRCm39) G140C probably damaging Het
Hectd4 T A 5: 121,481,145 (GRCm39) probably null Het
Hyou1 T A 9: 44,300,539 (GRCm39) N869K probably damaging Het
Ing1 G A 8: 11,611,933 (GRCm39) V124I probably damaging Het
Kalrn T A 16: 34,134,643 (GRCm39) I380F probably damaging Het
Kcnh1 A G 1: 192,019,888 (GRCm39) I378V probably benign Het
Kmt2c A G 5: 25,520,662 (GRCm39) V1816A probably benign Het
Matn2 G A 15: 34,435,917 (GRCm39) probably null Het
Naip2 C T 13: 100,297,621 (GRCm39) S805N probably benign Het
Napsa A C 7: 44,234,530 (GRCm39) Q254P probably damaging Het
Nat10 G T 2: 103,557,074 (GRCm39) S860* probably null Het
Nipbl T C 15: 8,381,112 (GRCm39) D560G probably benign Het
Nr3c2 A G 8: 77,912,596 (GRCm39) M736V probably benign Het
Or4k44 A T 2: 111,368,328 (GRCm39) F102Y probably damaging Het
Or7e174 A T 9: 20,012,744 (GRCm39) R230* probably null Het
Or8u8 A T 2: 86,011,566 (GRCm39) D296E probably benign Het
Palm3 A G 8: 84,755,492 (GRCm39) S335G possibly damaging Het
Panx1 G T 9: 14,919,112 (GRCm39) S249* probably null Het
Parvb A G 15: 84,179,812 (GRCm39) T231A probably benign Het
Pcdhb11 G T 18: 37,554,923 (GRCm39) L84F probably damaging Het
Pi4k2b T C 5: 52,925,096 (GRCm39) *447Q probably null Het
Ppp1r1a A G 15: 103,440,783 (GRCm39) S125P probably benign Het
Prss1 T A 6: 41,440,246 (GRCm39) D194E probably damaging Het
Rnf216 A T 5: 143,001,409 (GRCm39) C772* probably null Het
Rnf216 A T 5: 143,076,125 (GRCm39) F253Y probably benign Het
Rsf1 A T 7: 97,330,024 (GRCm39) E1183D probably benign Het
Rusc1 T C 3: 88,994,132 (GRCm39) T958A probably benign Het
Rxfp1 A G 3: 79,558,038 (GRCm39) M480T probably benign Het
Slc22a16 T A 10: 40,467,886 (GRCm39) V473E probably damaging Het
Slc26a3 A G 12: 31,515,848 (GRCm39) T583A possibly damaging Het
Slc7a15 T C 12: 8,584,400 (GRCm39) T117A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Slitrk6 T A 14: 110,989,725 (GRCm39) probably benign Het
Spata31g1 T C 4: 42,972,199 (GRCm39) S511P possibly damaging Het
Spata7 A G 12: 98,624,524 (GRCm39) Y110C probably damaging Het
Supt16 T A 14: 52,421,453 (GRCm39) I31F probably benign Het
Taar7a T C 10: 23,869,172 (GRCm39) T70A probably benign Het
Top2a A G 11: 98,900,679 (GRCm39) F594L probably damaging Het
Unc13d C T 11: 115,960,846 (GRCm39) probably null Het
Unc80 T G 1: 66,522,497 (GRCm39) V233G probably damaging Het
Wdr91 A T 6: 34,857,781 (GRCm39) D735E probably damaging Het
Zzef1 A G 11: 72,756,917 (GRCm39) T1141A possibly damaging Het
Other mutations in Fabp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Fabp1 APN 6 71,180,128 (GRCm39) missense probably damaging 1.00
R3437:Fabp1 UTSW 6 71,178,595 (GRCm39) missense probably benign 0.44
R5218:Fabp1 UTSW 6 71,176,944 (GRCm39) missense probably damaging 0.99
R7023:Fabp1 UTSW 6 71,180,069 (GRCm39) critical splice acceptor site probably null
R7289:Fabp1 UTSW 6 71,180,111 (GRCm39) missense probably benign 0.00
R8050:Fabp1 UTSW 6 71,176,956 (GRCm39) missense probably damaging 1.00
X0063:Fabp1 UTSW 6 71,178,606 (GRCm39) missense possibly damaging 0.91
Z1176:Fabp1 UTSW 6 71,176,939 (GRCm39) missense possibly damaging 0.74
Z1177:Fabp1 UTSW 6 71,178,720 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCCCTATTTCCATTTAGCACCAAAGA -3'
(R):5'- ACCCTGATGCTGCCATTCGAC -3'

Sequencing Primer
(F):5'- TTCCATTTAGCACCAAAGAACTGG -3'
(R):5'- CCTTcacacacacacacacac -3'
Posted On 2013-05-09