|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 26, member 9|
|Synonyms||anion transporter/exchanger-9, E030002L01Rik|
|Is this an essential gene?||Probably essential (E-score: 0.862)|
|Stock #||R6719 (G1)|
|Chromosomal Location||131744022-131771504 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 131761785 bp|
|Amino Acid Change||Isoleucine to Threonine at position 490 (I490T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036916 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049027] [ENSMUST00000186122]|
|Predicted Effect||probably benign
AA Change: I490T
PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: I490T
|Coding Region Coverage||
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 their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced gastric secretory membranes and loss of gastric acid secretion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc26a9||
(F):5'- AAGCAAAGCGCCAGTACGTG -3'
(R):5'- ACTTCTGAGGTCTGGTAGCATG -3'
(F):5'- GTACGTGACTCACTGCAAAAATG -3'
(R):5'- CTGGTAGCATGTCCCTGTGC -3'