|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 22 (organic anion transporter), member 6|
|Synonyms||NKT, Oat1, mOat1, Orctl1|
|Is this an essential gene?||Probably non essential (E-score: 0.062)|
|Stock #||R7298 (G1)|
|Chromosomal Location||8617996-8628299 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 8621320 bp|
|Amino Acid Change||Alanine to Glutamic Acid at position 247 (A247E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010250 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010250]|
|Predicted Effect||possibly damaging
AA Change: A247E
PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: A247E
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc22a6||
(F):5'- TCCCATCTAGCAGCCCAATG -3'
(R):5'- TTCCTTCAGGGCAAAACCTACC -3'
(F):5'- TCTAGCAGCCCAATGACTCC -3'
(R):5'- CTTGGCTTCAGAATCTACTCAACAG -3'