|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20|
|Synonyms||1110007P09Rik, Cact, mCAC|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7400 (G1)|
|Chromosomal Location||108662088-108684641 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 108681973 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 179 (D179E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035222 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035222]|
|Predicted Effect||possibly damaging
AA Change: D179E
PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: D179E
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc25a20||
(F):5'- AGCTGCCAGAACTCCTCA -3'
(R):5'- AGCTACTAAAGGAACCAATAGGG -3'
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GGGCAAAGTATGTCTGCTTCAG -3'