|Institutional Source||Beutler Lab|
|Gene Name||uncoupling protein 1 (mitochondrial, proton carrier)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5994 (G1)|
|Chromosomal Location||83290352-83298452 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 83293938 bp|
|Amino Acid Change||Valine to Leucine at position 126 (V126L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034146 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034146]|
|Predicted Effect||possibly damaging
AA Change: V126L
PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V126L
|Coding Region Coverage||
|MGI Phenotype||Strain: 1857471
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the 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. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit impaired thermoregulation on some genetic backgrounds. Biochemical alterations in brown fat mitochondria are also observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ucp1||
(F):5'- AGAGTTTGTCCTCTGTGCAC -3'
(R):5'- TGTTCACTTGGCAGTTAGCTACC -3'
(F):5'- GTCCTCTGTGCACCCACTAC -3'
(R):5'- GGCAGTTAGCTACCTTTCCAAAGTG -3'