|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 5 (iodide transporter), member 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8219 (G1)|
|Chromosomal Location||88885992-88929515 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 88921699 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 517 (Y517C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020255 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020255]|
|Predicted Effect||probably damaging
AA Change: Y517C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y517C
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased lactate concentrations in the saliva and urine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc5a8||
(F):5'- ACAACAGTTCGAGATCAGCG -3'
(R):5'- GAACTTTATCTTAGAGCAACCTGTC -3'
(F):5'- CAACAGTTCGAGATCAGCGTCATTG -3'
(R):5'- ACATAAGAGTGGTTATGTACCTGGCC -3'