Incidental Mutation 'R3437:Fabp1'
ID 267235
Institutional Source Beutler Lab
Gene Symbol Fabp1
Ensembl Gene ENSMUSG00000054422
Gene Name fatty acid binding protein 1, liver
Synonyms L-FABP, Fabpl
MMRRC Submission 040655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R3437 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71176863-71182018 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71178595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 24 (L24P)
Ref Sequence ENSEMBL: ENSMUSP00000064655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067492]
AlphaFold P12710
Predicted Effect probably benign
Transcript: ENSMUST00000067492
AA Change: L24P

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064655
Gene: ENSMUSG00000054422
AA Change: L24P

DomainStartEndE-ValueType
Pfam:Lipocalin_7 1 127 1.2e-32 PFAM
Pfam:Lipocalin 4 127 8.6e-17 PFAM
Meta Mutation Damage Score 0.5209 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,616,253 (GRCm39) L127R probably null Het
Ambp T C 4: 63,067,721 (GRCm39) E163G probably benign Het
Amy1 G A 3: 113,349,658 (GRCm39) A504V probably damaging Het
Angptl3 A T 4: 98,921,540 (GRCm39) K219N probably benign Het
Atp6v1g1 A G 4: 63,468,255 (GRCm39) N86S probably benign Het
Avl9 T C 6: 56,713,612 (GRCm39) V290A probably benign Het
Bad A G 19: 6,919,799 (GRCm39) R37G probably benign Het
Bicra T C 7: 15,723,223 (GRCm39) D98G possibly damaging Het
Cfap251 A G 5: 123,392,435 (GRCm39) probably benign Het
Col4a4 G A 1: 82,474,889 (GRCm39) T650M unknown Het
Cyp11b2 T C 15: 74,727,298 (GRCm39) R128G probably benign Het
Dst T C 1: 34,229,303 (GRCm39) S1974P probably damaging Het
Flnb T C 14: 7,942,057 (GRCm38) V2345A probably damaging Het
Gmnc G T 16: 26,779,217 (GRCm39) H221Q probably benign Het
Homer1 T C 13: 93,502,929 (GRCm39) probably benign Het
Kit A G 5: 75,806,565 (GRCm39) D690G probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mc3r C T 2: 172,091,588 (GRCm39) T270I probably benign Het
Mrgpra3 A C 7: 47,239,314 (GRCm39) L204W probably damaging Het
Mroh1 C T 15: 76,317,808 (GRCm39) T839I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Optc T C 1: 133,825,617 (GRCm39) D303G probably damaging Het
Or2n1d A G 17: 38,646,323 (GRCm39) I92V probably damaging Het
Or5af1 A T 11: 58,722,150 (GRCm39) M57L probably damaging Het
P4ha3 C T 7: 99,934,831 (GRCm39) A31V possibly damaging Het
Plch2 A G 4: 155,075,470 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,647 (GRCm39) probably null Het
Polq A T 16: 36,882,699 (GRCm39) N1342I probably damaging Het
Pter T A 2: 13,005,805 (GRCm39) L326H probably benign Het
Pwwp2a C T 11: 43,597,015 (GRCm39) Q452* probably null Het
Slc8a2 T G 7: 15,892,810 (GRCm39) V824G probably damaging Het
Slfn2 A T 11: 82,960,390 (GRCm39) H123L probably benign Het
Tmem132e A G 11: 82,335,156 (GRCm39) Y654C probably damaging Het
Trim14 C T 4: 46,523,739 (GRCm39) V100I possibly damaging Het
Tro G A X: 149,429,252 (GRCm39) probably benign Het
Uspl1 T A 5: 149,151,507 (GRCm39) probably benign Het
Uty A G Y: 1,158,336 (GRCm39) I522T probably benign Het
Vmn1r120 A C 7: 20,787,582 (GRCm39) L43W probably damaging Het
Vmn2r16 A T 5: 109,478,362 (GRCm39) D39V probably damaging Het
Washc4 T A 10: 83,405,866 (GRCm39) I454N probably benign Het
Wnt16 T C 6: 22,298,133 (GRCm39) V333A probably damaging Het
Ylpm1 T C 12: 85,096,644 (GRCm39) probably null Het
Zfy1 A T Y: 726,357 (GRCm39) D469E possibly damaging Het
Other mutations in Fabp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Fabp1 APN 6 71,180,128 (GRCm39) missense probably damaging 1.00
R0422:Fabp1 UTSW 6 71,180,077 (GRCm39) missense possibly damaging 0.92
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'- CACAGAGGGAAGGGTCTTTAC -3'
(R):5'- GGAGGTGGAACTACATACCTTG -3'

Sequencing Primer
(F):5'- TTGCCTAGCATGCATGAAGC -3'
(R):5'- GTGGAACTACATACCTTGACTTTTTC -3'
Posted On 2015-02-18