Incidental Mutation 'R3498:Slc22a4'
ID 273672
Institutional Source Beutler Lab
Gene Symbol Slc22a4
Ensembl Gene ENSMUSG00000020334
Gene Name solute carrier family 22 (organic cation transporter), member 4
Synonyms Octn1
MMRRC Submission 040661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R3498 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 53983123-54028090 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53992053 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 328 (K328N)
Ref Sequence ENSEMBL: ENSMUSP00000020586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020586]
AlphaFold Q9Z306
Predicted Effect probably benign
Transcript: ENSMUST00000020586
AA Change: K328N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
AA Change: K328N

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Sugar_tr 60 524 2.7e-30 PFAM
Pfam:MFS_1 139 478 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146351
Meta Mutation Damage Score 0.1311 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
MGI Phenotype 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
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik AC A 17: 47,433,423 probably benign Het
A3galt2 T C 4: 128,755,557 F6L probably benign Het
Aurkc A G 7: 7,000,030 I175V probably damaging Het
Azi2 A G 9: 118,049,407 D105G probably damaging Het
Bcat1 A G 6: 145,019,342 V45A probably damaging Het
Cass4 C T 2: 172,432,558 P753L probably damaging Het
Ddx42 A G 11: 106,231,193 E178G possibly damaging Het
Dmpk T C 7: 19,086,381 I101T probably damaging Het
Dnah17 C T 11: 118,080,849 probably benign Het
Fosb C T 7: 19,306,632 R161H probably damaging Het
Gm6729 T C 10: 86,540,718 noncoding transcript Het
Gnb1 T A 4: 155,555,026 N237K possibly damaging Het
Gpr35 A G 1: 92,983,391 Y275C probably damaging Het
Hmcn1 A T 1: 150,605,102 I4441N probably damaging Het
Ighe G A 12: 113,271,374 Q389* probably null Het
Kcnj11 T C 7: 46,099,602 D23G probably damaging Het
Lats2 G T 14: 57,722,466 A191E possibly damaging Het
Lyplal1 A G 1: 186,088,660 S197P possibly damaging Het
Map4 G T 9: 110,035,212 V502L probably benign Het
Mgat5 A G 1: 127,384,834 M237V possibly damaging Het
Mindy4 A G 6: 55,216,525 R68G probably benign Het
Nell1 T A 7: 50,258,179 V362E possibly damaging Het
Olfr1031 T A 2: 85,992,430 F204L probably benign Het
Olfr792 T A 10: 129,540,909 I124N probably damaging Het
P4ha2 T C 11: 54,119,253 Y279H probably benign Het
Pcid2 A G 8: 13,100,413 V13A possibly damaging Het
Polr2j T C 5: 136,122,770 I116T probably benign Het
Prdm9 A G 17: 15,562,945 probably benign Het
Prr5 T A 15: 84,703,144 V365E probably benign Het
Ptprf A T 4: 118,224,930 I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,219,203 probably benign Het
Sde2 T A 1: 180,858,185 C101S probably damaging Het
Sec1 T C 7: 45,679,239 H128R probably damaging Het
Serpinb6a A T 13: 33,918,781 M253K probably damaging Het
Slc1a4 A T 11: 20,313,973 I248N probably damaging Het
Slc24a4 A T 12: 102,234,692 K278N probably benign Het
Slc6a21 T A 7: 45,280,842 W222R probably damaging Het
Slc7a2 A G 8: 40,912,530 E466G probably benign Het
Sspo A G 6: 48,467,980 T2133A possibly damaging Het
Taco1 A G 11: 106,072,538 M172V probably benign Het
Tmem127 T A 2: 127,256,120 H36Q probably benign Het
Tmem229b-ps C T 10: 53,475,127 noncoding transcript Het
Vac14 A G 8: 110,671,090 D479G probably benign Het
Vmn1r176 T A 7: 23,835,242 K162I probably benign Het
Other mutations in Slc22a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Slc22a4 APN 11 53986477 critical splice donor site probably null
IGL01723:Slc22a4 APN 11 53988845 missense probably benign 0.28
IGL01839:Slc22a4 APN 11 53996077 missense probably damaging 0.98
IGL02022:Slc22a4 APN 11 53983609 unclassified probably benign
IGL02386:Slc22a4 APN 11 53988772 splice site probably benign
PIT1430001:Slc22a4 UTSW 11 54027957 missense probably benign
R0001:Slc22a4 UTSW 11 54028003 start gained probably benign
R1111:Slc22a4 UTSW 11 54007841 missense probably benign
R1710:Slc22a4 UTSW 11 54027975 start codon destroyed probably null 0.99
R2104:Slc22a4 UTSW 11 53983610 unclassified probably benign
R3081:Slc22a4 UTSW 11 54007789 missense probably benign 0.38
R4014:Slc22a4 UTSW 11 53997392 missense probably benign 0.04
R4658:Slc22a4 UTSW 11 53997510 missense probably benign 0.05
R4720:Slc22a4 UTSW 11 53988893 missense probably damaging 1.00
R4727:Slc22a4 UTSW 11 54027651 missense possibly damaging 0.83
R5894:Slc22a4 UTSW 11 53997515 missense probably benign 0.04
R5945:Slc22a4 UTSW 11 53996028 missense probably damaging 1.00
R6295:Slc22a4 UTSW 11 54007808 missense possibly damaging 0.46
R6848:Slc22a4 UTSW 11 54007789 missense possibly damaging 0.90
R6899:Slc22a4 UTSW 11 53988913 missense probably damaging 1.00
R7343:Slc22a4 UTSW 11 53986538 missense possibly damaging 0.53
R7414:Slc22a4 UTSW 11 53997428 missense probably benign 0.00
R7806:Slc22a4 UTSW 11 53990650 missense probably damaging 1.00
R8068:Slc22a4 UTSW 11 53997443 missense possibly damaging 0.89
R8087:Slc22a4 UTSW 11 53996061 missense possibly damaging 0.80
R8218:Slc22a4 UTSW 11 53986581 missense probably benign 0.00
R8971:Slc22a4 UTSW 11 53988892 missense probably damaging 0.99
R9008:Slc22a4 UTSW 11 53990838 nonsense probably null
R9296:Slc22a4 UTSW 11 53997391 nonsense probably null
R9484:Slc22a4 UTSW 11 53988947 missense possibly damaging 0.94
R9679:Slc22a4 UTSW 11 53990773 missense probably damaging 1.00
Z1177:Slc22a4 UTSW 11 54027718 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCTTTTGCTGTAGGCGAAG -3'
(R):5'- CAGCCCTCAACTTCTGAACTTG -3'

Sequencing Primer
(F):5'- GCCTAGGCTTCGTCACATC -3'
(R):5'- CCAGGATGTAGTTCAGTGCAC -3'
Posted On 2015-04-02