Incidental Mutation 'R9308:Slc22a18'
ID 705343
Institutional Source Beutler Lab
Gene Symbol Slc22a18
Ensembl Gene ENSMUSG00000000154
Gene Name solute carrier family 22 (organic cation transporter), member 18
Synonyms Orctl2, TSSC5, IMPT1, BWSCR1A, Impt1, Slc22a1l, BWR1A, p45-BWR1A
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R9308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 143027502-143053071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143044617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000056082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000141988] [ENSMUST00000145943] [ENSMUST00000150791]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000052348
AA Change: V190A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: V190A

DomainStartEndE-ValueType
Pfam:MFS_1 14 339 1.1e-31 PFAM
Pfam:MFS_1 229 410 5.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105917
AA Change: V190A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: V190A

DomainStartEndE-ValueType
Pfam:MFS_1 14 337 7.8e-32 PFAM
Pfam:MFS_3 66 346 6.5e-9 PFAM
Pfam:MFS_1 229 410 3.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141988
Predicted Effect probably benign
Transcript: ENSMUST00000145943
SMART Domains Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150791
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,667 (GRCm39) E389* probably null Het
2700049A03Rik T C 12: 71,231,233 (GRCm39) V997A probably benign Het
9930012K11Rik A G 14: 70,393,863 (GRCm39) probably null Het
Acss3 C G 10: 106,959,282 (GRCm39) G55R possibly damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Acy3 C T 19: 4,038,451 (GRCm39) R193W probably damaging Het
Adam15 T C 3: 89,254,790 (GRCm39) D90G possibly damaging Het
Adamts9 T C 6: 92,857,875 (GRCm39) D833G probably benign Het
Apoa2 A G 1: 171,053,300 (GRCm39) S40G probably benign Het
Arhgap21 A T 2: 20,854,061 (GRCm39) M1777K probably damaging Het
BC004004 A G 17: 29,513,089 (GRCm39) E171G probably benign Het
Cblb A G 16: 52,009,374 (GRCm39) probably null Het
Cdk5rap2 T C 4: 70,328,504 (GRCm39) M1V probably null Het
Clca4a T G 3: 144,676,183 (GRCm39) E117A probably damaging Het
Cps1 T C 1: 67,200,118 (GRCm39) probably null Het
Crygd T C 1: 65,101,220 (GRCm39) N125S probably benign Het
Csf1 T A 3: 107,655,585 (GRCm39) H482L probably benign Het
Cyp3a41a A G 5: 145,656,858 (GRCm39) M1T probably null Het
Dgkg C A 16: 22,429,528 (GRCm39) probably null Het
Dnhd1 T C 7: 105,353,484 (GRCm39) V2879A probably damaging Het
Dock6 A T 9: 21,728,744 (GRCm39) C1307* probably null Het
Exoc1 T A 5: 76,706,968 (GRCm39) M505K probably benign Het
Fam131a A G 16: 20,520,582 (GRCm39) D345G probably damaging Het
Fbxw17 G T 13: 50,572,004 (GRCm39) R24L probably benign Het
Gmcl1 A C 6: 86,691,239 (GRCm39) I252R possibly damaging Het
Gpr150 G A 13: 76,203,701 (GRCm39) R415C probably damaging Het
Gtf3c4 G A 2: 28,724,982 (GRCm39) S250L probably damaging Het
Irs3 G A 5: 137,642,343 (GRCm39) A365V possibly damaging Het
Jph4 C A 14: 55,346,981 (GRCm39) G522V probably damaging Het
Kcnn1 C T 8: 71,305,434 (GRCm39) G302R probably damaging Het
Ksr1 A T 11: 78,918,291 (GRCm39) L621H probably damaging Het
Lrrn3 T C 12: 41,503,945 (GRCm39) E124G probably damaging Het
Map3k6 T C 4: 132,970,722 (GRCm39) L203P probably damaging Het
Mapk15 T A 15: 75,865,714 (GRCm39) C2* probably null Het
Mga T A 2: 119,754,369 (GRCm39) N959K possibly damaging Het
Mrgprb2 A T 7: 48,202,655 (GRCm39) N23K possibly damaging Het
Myo10 G T 15: 25,781,862 (GRCm39) S1119I probably damaging Het
Or12e13 G A 2: 87,663,523 (GRCm39) G47R probably damaging Het
Or14j4 A G 17: 37,921,246 (GRCm39) V132A possibly damaging Het
Or2a12 G T 6: 42,904,749 (GRCm39) V195F probably benign Het
Or2a25 A T 6: 42,888,931 (GRCm39) H158L probably damaging Het
Or6k6 A G 1: 173,945,501 (GRCm39) V27A probably benign Het
Ovch2 T C 7: 107,389,560 (GRCm39) E329G probably benign Het
Pkn2 C T 3: 142,517,724 (GRCm39) R458Q probably benign Het
Pnpt1 T C 11: 29,097,535 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,556 (GRCm39) V666A probably benign Het
Psmb10 T C 8: 106,662,662 (GRCm39) R226G probably damaging Het
Ptpn5 A G 7: 46,740,569 (GRCm39) V78A probably benign Het
Ptprk A G 10: 28,450,850 (GRCm39) M1004V probably benign Het
Pygb T A 2: 150,668,297 (GRCm39) S626T probably benign Het
Rad21l T C 2: 151,491,049 (GRCm39) T473A probably benign Het
Rassf7 T C 7: 140,798,063 (GRCm39) S344P probably benign Het
Rbbp6 T C 7: 122,596,221 (GRCm39) S550P probably damaging Het
Rhpn2 T C 7: 35,033,805 (GRCm39) L13P possibly damaging Het
Rps11 C T 7: 44,772,614 (GRCm39) V66I probably benign Het
Smad1 T C 8: 80,098,899 (GRCm39) probably benign Het
Spock2 A G 10: 59,965,556 (GRCm39) K327E possibly damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tom1l1 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 11: 90,540,648 (GRCm39) probably benign Het
Traj22 T C 14: 54,434,729 (GRCm39) I8T Het
Txnl1 T C 18: 63,812,446 (GRCm39) D116G probably benign Het
Ush1g A T 11: 115,209,534 (GRCm39) L220Q probably damaging Het
Vmn2r10 C A 5: 109,145,476 (GRCm39) E544* probably null Het
Vmn2r17 T C 5: 109,600,505 (GRCm39) V601A probably damaging Het
Zc3h13 C T 14: 75,565,418 (GRCm39) R844W unknown Het
Zfpm1 A C 8: 123,034,231 (GRCm39) D55A probably benign Het
Other mutations in Slc22a18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Slc22a18 APN 7 143,052,837 (GRCm39) missense probably damaging 1.00
IGL01888:Slc22a18 APN 7 143,033,053 (GRCm39) missense probably damaging 1.00
IGL02458:Slc22a18 APN 7 143,046,574 (GRCm39) splice site probably benign
IGL02626:Slc22a18 APN 7 143,052,837 (GRCm39) missense probably damaging 1.00
PIT4810001:Slc22a18 UTSW 7 143,046,668 (GRCm39) missense probably benign 0.00
R0294:Slc22a18 UTSW 7 143,046,578 (GRCm39) critical splice acceptor site probably null
R0571:Slc22a18 UTSW 7 143,045,598 (GRCm39) splice site probably benign
R1951:Slc22a18 UTSW 7 143,029,984 (GRCm39) missense probably damaging 1.00
R1953:Slc22a18 UTSW 7 143,029,984 (GRCm39) missense probably damaging 1.00
R2352:Slc22a18 UTSW 7 143,051,152 (GRCm39) missense probably benign 0.02
R3900:Slc22a18 UTSW 7 143,033,507 (GRCm39) missense probably damaging 1.00
R5317:Slc22a18 UTSW 7 143,052,896 (GRCm39) missense probably damaging 1.00
R5428:Slc22a18 UTSW 7 143,033,082 (GRCm39) missense probably damaging 1.00
R7672:Slc22a18 UTSW 7 143,044,557 (GRCm39) missense probably damaging 1.00
R7684:Slc22a18 UTSW 7 143,044,577 (GRCm39) missense probably benign 0.00
R7688:Slc22a18 UTSW 7 143,033,560 (GRCm39) missense probably damaging 1.00
R8130:Slc22a18 UTSW 7 143,052,911 (GRCm39) missense probably damaging 1.00
R8443:Slc22a18 UTSW 7 143,051,123 (GRCm39) missense probably damaging 0.96
R9784:Slc22a18 UTSW 7 143,046,678 (GRCm39) missense probably benign 0.02
Z1177:Slc22a18 UTSW 7 143,050,779 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCACCCTTAGTAGGTGAGGTC -3'
(R):5'- TGACTTACCAGGAATCAGCAGC -3'

Sequencing Primer
(F):5'- GTCTTAATTGAGCCAAAGGAGC -3'
(R):5'- GAGGAGATCACATTCCCTCTTTGAG -3'
Posted On 2022-03-25