|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 25, member 27|
|Synonyms||D530043E16Rik, 3632410G24Rik, Ucp4, 9430092A03Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.089)|
|Stock #||R1591 (G1)|
|Chromosomal Location||43641900-43667015 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43653424 bp|
|Amino Acid Change||Isoleucine to Threonine at position 185 (I185T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024705 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024705]|
|Predicted Effect||probably benign
AA Change: I185T
PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: I185T
|Meta Mutation Damage Score||0.3644|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc25a27||
(F):5'- ACCATCGCTGGTTTGTGTTACTGAAA -3'
(R):5'- TGTATTCCATGCGTCCGGCATT -3'
(F):5'- TACTGAAAAATAAAACAATGCCTTCC -3'
(R):5'- tccttttttttttcttctccttccc -3'