Incidental Mutation 'R7684:Slc22a18'
ID 592940
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 067780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7684 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143027502-143053071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143044577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 177 (V177L)
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: V177L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: V177L

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: V177L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: V177L

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cldn8 A G 16: 88,359,335 (GRCm39) Y197H probably damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
H6pd G T 4: 150,080,519 (GRCm39) Q109K probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Krit1 A G 5: 3,880,723 (GRCm39) I561V possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nrg3 A T 14: 39,194,522 (GRCm39) L79Q probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q probably damaging 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
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
R9308:Slc22a18 UTSW 7 143,044,617 (GRCm39) missense probably benign 0.13
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'- TGCTTTAAGGGATCAAGTAGCAG -3'
(R):5'- GCAGAGGAGATCACATTCCC -3'

Sequencing Primer
(F):5'- GGGACTGAGCACCCTTAGTAG -3'
(R):5'- GAGGAGATCACATTCCCTCTTTGAG -3'
Posted On 2019-11-12