|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 4, sodium bicarbonate cotransporter, member 5|
|Is this an essential gene?||Possibly essential (E-score: 0.655)|
|Stock #||R6126 (G1)|
|Chromosomal Location||83219828-83304945 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 83226265 bp|
|Amino Acid Change||Histidine to Leucine at position 49 (H49L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109533 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113900]|
|Predicted Effect||probably benign
AA Change: H49L
PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: H49L
|Meta Mutation Damage Score||0.1340|
|Coding Region Coverage||
|Validation Efficiency||93% (51/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit arterial hypertension and renal metabolic acidosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc4a5||
(F):5'- GCCCTTGTATTCTGACAGAACC -3'
(R):5'- CTGTACCCACCAACAGGTTG -3'
(F):5'- GTATTCTGACAGAACCTTCATCCCAG -3'
(R):5'- TGGCTCTTGAAGGAACATGCC -3'