|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 26, member 7|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R5344 (G1)|
|Chromosomal Location||14502430-14621805 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 14519402 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 539 (D539E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041789 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042221]|
|Predicted Effect||probably benign
AA Change: D539E
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: D539E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0584|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate. Urine is more concentrated and has an elevated pH. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc26a7||
(F):5'- CCTATTCTGAAGAACTAGGCTATCAC -3'
(R):5'- AGCAATCCACAACTGAGTGTTATG -3'
(F):5'- GGTCCATGATGAACAAATTTCTTAAG -3'
(R):5'- CCACAACTGAGTGTTATGTTGAC -3'