|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 22 (organic cation transporter), member 4|
|Is this an essential gene?||Possibly non essential (E-score: 0.362)|
|Stock #||R5894 (G1)|
|Chromosomal Location||53983123-54028090 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 53997515 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 229 (I229N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020586 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020586]|
|Predicted Effect||probably benign
AA Change: I229N
PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: I229N
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc22a4||
(F):5'- AACAGTGGGCTCATCTCTGG -3'
(R):5'- CTCTGAAAACAGCATTGTCAGAAGG -3'
(F):5'- GCTCATCTCTGGAGTGCCTG -3'
(R):5'- CAGCATTGTCAGAAGGCAGTAGTTTC -3'