|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 25 (mitochondrial carrier, Aralar), member 12|
|Is this an essential gene?||Probably non essential (E-score: 0.224)|
|Stock #||R4830 (G1)|
|Chromosomal Location||71271063-71367749 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 71296805 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 344 (V344E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000122103 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000151937] [ENSMUST00000184169]|
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: V344E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V344E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9437|
|Coding Region Coverage||
|Validation Efficiency||97% (71/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc25a12||
(F):5'- AAAATCACCAACGTCGGCGG -3'
(R):5'- TTGTCCCTTAAGCAGACCCG -3'
(F):5'- GCTGAGCTGCGCGTACTC -3'
(R):5'- CTTAAGCAGACCCGGTTGCTTG -3'