|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 27 (fatty acid transporter), member 4|
|Synonyms||FATP4, fatty acid transport protein 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0470 (G1)|
|Chromosomal Location||29802634-29817522 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 29804185 bp|
|Amino Acid Change||Leucine to Glutamine at position 7 (L7Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078971 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080065]|
|Predicted Effect||probably benign
AA Change: L7Q
PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: L7Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1177|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutant mice are not viable. While mice of one mutant line die during early development, mice of other mutant lines die at birth exhibiting abnormal skin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc27a4||
(F):5'- CTGTAGATTTCAAGGCCCCTCCAAC -3'
(R):5'- AATGGCTGGTAAAGCCCAGCAC -3'
(F):5'- TCCAACTTGGCATGGAACC -3'
(R):5'- TAAAGCCCAGCACAGTTGAG -3'