|Institutional Source||Beutler Lab|
|Gene Name||fatty acid binding protein 3, muscle and heart|
|Synonyms||Fabph4, Mdgi, H-FABP, Fabp3, Fabph1, Fabph-4, Fabph-1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4850 (G1)|
|Chromosomal Location||130308595-130315463 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 130312387 bp (GRCm38)|
|Amino Acid Change||Threonine to Isoleucine at position 57 (T57I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070532] [ENSMUST00000097865] [ENSMUST00000134159]|
AA Change: T57I
PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: T57I
|Meta Mutation Damage Score||0.7568|
|Coding Region Coverage||
|Validation Efficiency||99% (79/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Inactivation of this locus results in impaired fatty acid utilization. Homozygous null mice show exercise intolerance and cardiac hypertrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fabp3||
(F):5'- GGCCACAAACTTCTCTTTGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'