|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 25 (mitochondrial carrier, palmitoylcarnitine transporter), member 29|
|Synonyms||CACL, mCACL, C030003J19Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2094 (G1)|
|Chromosomal Location||108825873-108835883 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 108827432 bp (GRCm38)|
|Amino Acid Change||Asparagine to Lysine at position 73 (N73K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021693 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021693]|
AA Change: N73K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N73K
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc25a29||
(F):5'- ACACCATGCCTCGATTGATGC -3'
(R):5'- AAAAGGCTATCGGGGCATCC -3'
(F):5'- TGCCGGTAAATCTGCACCAG -3'
(R):5'- CCTAAGAGGGCACGGCTG -3'