Incidental Mutation 'R8971:Slc22a4'
ID 683112
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 068805-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R8971 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 53873949-53918916 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53879718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 447 (Y447C)
Ref Sequence ENSEMBL: ENSMUSP00000020586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020586]
AlphaFold Q9Z306
Predicted Effect probably damaging
Transcript: ENSMUST00000020586
AA Change: Y447C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
AA Change: Y447C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik T C 14: 34,236,383 (GRCm39) H44R unknown Het
Acp6 C T 3: 97,078,961 (GRCm39) H254Y probably damaging Het
Acvrl1 A G 15: 101,033,404 (GRCm39) N97S possibly damaging Het
Afm T A 5: 90,696,675 (GRCm39) V455E probably damaging Het
Ankrd44 G T 1: 54,692,952 (GRCm39) D927E probably benign Het
Ap2a2 T C 7: 141,191,258 (GRCm39) V275A probably benign Het
Arfgef2 A T 2: 166,701,221 (GRCm39) Q673L probably damaging Het
Atp6v0a2 T C 5: 124,797,061 (GRCm39) F814L probably damaging Het
Axdnd1 G A 1: 156,219,516 (GRCm39) A193V Het
Bicra T A 7: 15,721,481 (GRCm39) I679L probably benign Het
Ccm2l G A 2: 152,909,756 (GRCm39) R36H probably damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Cela3a C T 4: 137,133,222 (GRCm39) G50D probably benign Het
Cep152 T A 2: 125,421,770 (GRCm39) R987* probably null Het
Cnnm2 T C 19: 46,845,362 (GRCm39) V618A probably benign Het
Crim1 G A 17: 78,653,409 (GRCm39) R593Q possibly damaging Het
Ctsc A G 7: 87,959,024 (GRCm39) S435G probably benign Het
Dcbld1 G T 10: 52,195,958 (GRCm39) A460S probably benign Het
Dcbld2 A G 16: 58,276,715 (GRCm39) E502G probably benign Het
Dhx30 A T 9: 109,913,513 (GRCm39) L1207* probably null Het
Dlx2 A T 2: 71,376,716 (GRCm39) S7R possibly damaging Het
Dmwd T A 7: 18,814,973 (GRCm39) I541N probably damaging Het
Dmxl1 T G 18: 49,997,575 (GRCm39) L588V possibly damaging Het
Dmxl1 C T 18: 50,026,741 (GRCm39) P1950S probably damaging Het
Dnhd1 T A 7: 105,358,528 (GRCm39) L3339* probably null Het
Elovl1 C A 4: 118,288,709 (GRCm39) P160Q probably damaging Het
Epg5 T A 18: 78,022,434 (GRCm39) L1059Q probably damaging Het
Fam149b C T 14: 20,402,777 (GRCm39) S53F probably benign Het
Fat1 T A 8: 45,495,331 (GRCm39) C4140S probably damaging Het
Gria2 C T 3: 80,615,200 (GRCm39) V427I probably damaging Het
H2al2a C A 2: 18,001,537 (GRCm39) A50S probably damaging Het
Hspbp1 T C 7: 4,684,858 (GRCm39) M132V possibly damaging Het
Igsf9 C T 1: 172,312,033 (GRCm39) probably benign Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Katnb1 G A 8: 95,822,987 (GRCm39) R394Q probably damaging Het
Kif1b A T 4: 149,332,273 (GRCm39) D553E probably damaging Het
Kif3a T A 11: 53,474,189 (GRCm39) L251Q probably damaging Het
Klb T A 5: 65,533,026 (GRCm39) I445K probably damaging Het
Klhl29 T A 12: 5,190,710 (GRCm39) probably null Het
Lipf A G 19: 33,942,273 (GRCm39) K68E probably benign Het
Lnx2 T A 5: 146,970,236 (GRCm39) I169L probably benign Het
Lrba A C 3: 86,522,388 (GRCm39) I2223L probably benign Het
Lrp1 C T 10: 127,391,896 (GRCm39) D2890N possibly damaging Het
Lrp1b T C 2: 41,325,640 (GRCm39) T926A Het
Lrrc37a T A 11: 103,391,490 (GRCm39) I1312F probably benign Het
Lrrc71 T C 3: 87,647,153 (GRCm39) H477R possibly damaging Het
Lrrc8e T C 8: 4,284,141 (GRCm39) V122A probably damaging Het
Lsm14b T C 2: 179,667,107 (GRCm39) probably null Het
Magel2 A C 7: 62,029,999 (GRCm39) I968L unknown Het
Mapkbp1 T C 2: 119,850,050 (GRCm39) V771A probably benign Het
Mtmr4 T C 11: 87,493,626 (GRCm39) S295P probably benign Het
Nanos3 T A 8: 84,902,815 (GRCm39) T116S probably benign Het
Nectin3 T C 16: 46,269,265 (GRCm39) D379G probably benign Het
Nelfa T C 5: 34,093,539 (GRCm39) H14R possibly damaging Het
Nnt A G 13: 119,502,967 (GRCm39) W593R unknown Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Or4c115 T A 2: 88,927,891 (GRCm39) K127* probably null Het
Or52p1 A T 7: 104,267,467 (GRCm39) T194S probably damaging Het
Or5m13b T C 2: 85,754,328 (GRCm39) S239P probably damaging Het
Or5w22 T A 2: 87,362,580 (GRCm39) C68S probably benign Het
Or6f1 T A 7: 85,970,369 (GRCm39) I264F possibly damaging Het
Palld A T 8: 61,969,735 (GRCm39) D1196E unknown Het
Parl A G 16: 20,116,909 (GRCm39) L96P probably damaging Het
Pip4k2a T C 2: 18,852,367 (GRCm39) D305G probably benign Het
Pkhd1l1 T C 15: 44,392,915 (GRCm39) V1750A possibly damaging Het
Prkdc A G 16: 15,493,229 (GRCm39) E712G probably null Het
Rasgrf2 T C 13: 92,158,225 (GRCm39) E532G possibly damaging Het
Rbp3 T A 14: 33,677,792 (GRCm39) L580Q probably damaging Het
Ribc2 G T 15: 85,016,337 (GRCm39) probably benign Het
Rmnd5b T C 11: 51,515,322 (GRCm39) S315G probably benign Het
Rp1l1 T A 14: 64,259,445 (GRCm39) V29E probably damaging Het
Sclt1 T C 3: 41,681,541 (GRCm39) T93A probably benign Het
Shroom1 T A 11: 53,355,994 (GRCm39) L348H probably damaging Het
Slc13a1 T C 6: 24,090,785 (GRCm39) K545E probably benign Het
Slc20a2 C T 8: 23,030,396 (GRCm39) P151S probably damaging Het
Slu7 C A 11: 43,333,480 (GRCm39) Q367K probably benign Het
Spen T C 4: 141,201,889 (GRCm39) N2246S possibly damaging Het
Tac4 T G 11: 95,156,045 (GRCm39) I42S possibly damaging Het
Tmem87a A G 2: 120,190,541 (GRCm39) V530A Het
Tnrc6c T C 11: 117,640,089 (GRCm39) I1208T possibly damaging Het
Vmn1r230 C T 17: 21,067,321 (GRCm39) T170I possibly damaging Het
Vps29 A G 5: 122,498,212 (GRCm39) D51G probably benign Het
Washc2 T C 6: 116,231,399 (GRCm39) L874P probably damaging Het
Wdr5b T C 16: 35,861,926 (GRCm39) L15P probably benign Het
Zscan20 T A 4: 128,479,847 (GRCm39) Q881H probably damaging Het
Zscan20 T G 4: 128,479,848 (GRCm39) Q881P probably damaging Het
Other mutations in Slc22a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01459:Slc22a4 APN 11 53,877,303 (GRCm39) critical splice donor site probably null
IGL01723:Slc22a4 APN 11 53,879,671 (GRCm39) missense probably benign 0.28
IGL01839:Slc22a4 APN 11 53,886,903 (GRCm39) missense probably damaging 0.98
IGL02022:Slc22a4 APN 11 53,874,435 (GRCm39) unclassified probably benign
IGL02386:Slc22a4 APN 11 53,879,598 (GRCm39) splice site probably benign
PIT1430001:Slc22a4 UTSW 11 53,918,783 (GRCm39) missense probably benign
R0001:Slc22a4 UTSW 11 53,918,829 (GRCm39) start gained probably benign
R1111:Slc22a4 UTSW 11 53,898,667 (GRCm39) missense probably benign
R1710:Slc22a4 UTSW 11 53,918,801 (GRCm39) start codon destroyed probably null 0.99
R2104:Slc22a4 UTSW 11 53,874,436 (GRCm39) unclassified probably benign
R3081:Slc22a4 UTSW 11 53,898,615 (GRCm39) missense probably benign 0.38
R3498:Slc22a4 UTSW 11 53,882,879 (GRCm39) missense probably benign 0.00
R4014:Slc22a4 UTSW 11 53,888,218 (GRCm39) missense probably benign 0.04
R4658:Slc22a4 UTSW 11 53,888,336 (GRCm39) missense probably benign 0.05
R4720:Slc22a4 UTSW 11 53,879,719 (GRCm39) missense probably damaging 1.00
R4727:Slc22a4 UTSW 11 53,918,477 (GRCm39) missense possibly damaging 0.83
R5894:Slc22a4 UTSW 11 53,888,341 (GRCm39) missense probably benign 0.04
R5945:Slc22a4 UTSW 11 53,886,854 (GRCm39) missense probably damaging 1.00
R6295:Slc22a4 UTSW 11 53,898,634 (GRCm39) missense possibly damaging 0.46
R6848:Slc22a4 UTSW 11 53,898,615 (GRCm39) missense possibly damaging 0.90
R6899:Slc22a4 UTSW 11 53,879,739 (GRCm39) missense probably damaging 1.00
R7343:Slc22a4 UTSW 11 53,877,364 (GRCm39) missense possibly damaging 0.53
R7414:Slc22a4 UTSW 11 53,888,254 (GRCm39) missense probably benign 0.00
R7806:Slc22a4 UTSW 11 53,881,476 (GRCm39) missense probably damaging 1.00
R8068:Slc22a4 UTSW 11 53,888,269 (GRCm39) missense possibly damaging 0.89
R8087:Slc22a4 UTSW 11 53,886,887 (GRCm39) missense possibly damaging 0.80
R8218:Slc22a4 UTSW 11 53,877,407 (GRCm39) missense probably benign 0.00
R9008:Slc22a4 UTSW 11 53,881,664 (GRCm39) nonsense probably null
R9296:Slc22a4 UTSW 11 53,888,217 (GRCm39) nonsense probably null
R9484:Slc22a4 UTSW 11 53,879,773 (GRCm39) missense possibly damaging 0.94
R9679:Slc22a4 UTSW 11 53,881,599 (GRCm39) missense probably damaging 1.00
Z1177:Slc22a4 UTSW 11 53,918,544 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCCCTTGTTCATACACACAAAG -3'
(R):5'- GCTAGGATTTGAGGGCAGTC -3'

Sequencing Primer
(F):5'- TTGTTCATACACACAAAGCACATAAG -3'
(R):5'- AGTCTTGTCCAGCAGCACATTATG -3'
Posted On 2021-10-11