|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3|
|Synonyms||SDCT2, NaDC-3, NaDC3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6879 (G1)|
|Chromosomal Location||165405028-165473230 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 165430301 bp|
|Amino Acid Change||Glycine to Valine at position 274 (G274V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029208 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]|
|Predicted Effect||probably damaging
AA Change: G274V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: G274V
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc13a3||
(F):5'- TTTTCTTTGCTCAAAGGGCAAC -3'
(R):5'- TGTGGTTCCACTGAGTCAAAGC -3'
(F):5'- CTTTGCTCAAAGGGCAACATGTG -3'
(R):5'- AAGGAAAGGTGCCTTCTGTC -3'