|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: 0.419)|
|Stock #||R6848 (G1)|
|Chromosomal Location||53983123-54028090 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 54007789 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 159 (V159E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020586 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020586]|
|Predicted Effect||possibly damaging
AA Change: V159E
PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V159E
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
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'- TTCTCAGCCCTAGCATCCCAAG -3'
(R):5'- GTACCTTTTGCACAGAGCCAG -3'
(F):5'- TAGCATCCCAAGCGCTAGG -3'
(R):5'- CTGCTGGCACAAGGGAG -3'