|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4|
|Synonyms||Ant1, adenine nucleotide translocase-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1396 (G1)|
|Chromosomal Location||46206797-46211284 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 46209288 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 111 (R111L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034049 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034049]|
AA Change: R111L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R111L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc25a4||
(F):5'- TGATGATGCCCTGGACAGAGACAC -3'
(R):5'- TGCCAGCAAACAGATCAGTGCAG -3'
(F):5'- ACCCTGGTAGAGACCCTTC -3'
(R):5'- GCAGTACAAAGGCATCATTGATTG -3'