|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 26, member 3|
|Synonyms||9030623B18Rik, 9130013M11Rik, Dra|
|Is this an essential gene?||Possibly essential (E-score: 0.583)|
|Stock #||R6895 (G1)|
|Chromosomal Location||31390871-31473917 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 31463524 bp|
|Amino Acid Change||Alanine to Serine at position 482 (A482S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001254 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001254] [ENSMUST00000171616]|
|Predicted Effect||probably damaging
AA Change: A482S
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: A482S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele display partial postnatal lethality; survivors are small and show lower luminal Cl-/HCO3- exchange activity, acidic chloridorrhea, volume depletion, upregulation of ion transporters, dilated colons, higher crypt proliferation and plasma aldosterone, and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc26a3||
(F):5'- GAAGTGACCTTTTGAGACATGTCTTTG -3'
(R):5'- ATGGTCTTGATAGGCACGCATG -3'
(F):5'- TGTTCCCTGGCCCAAGATAAC -3'
(R):5'- GCATGCTATCAAACACACTGCTC -3'