Incidental Mutation 'IGL01657:Slc22a18'
ID 103036
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01657
Quality Score
Status
Chromosome 7
Chromosomal Location 143027502-143053071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 143052837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 354 (L354R)
Ref Sequence ENSEMBL: ENSMUSP00000101537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010904] [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000141988] [ENSMUST00000145943] [ENSMUST00000150791] [ENSMUST00000207425]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000010904
SMART Domains Protein: ENSMUSP00000010904
Gene: ENSMUSG00000010760

DomainStartEndE-ValueType
PH 18 111 1.54e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000052348
AA Change: L354R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: L354R

DomainStartEndE-ValueType
Pfam:MFS_1 14 339 1.1e-31 PFAM
Pfam:MFS_1 229 410 5.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105917
AA Change: L354R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: L354R

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
Predicted Effect probably benign
Transcript: ENSMUST00000207425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207561
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,865,574 (GRCm39) F90L probably benign Het
Anapc4 T A 5: 53,021,968 (GRCm39) Y683* probably null Het
Astn2 T G 4: 65,570,186 (GRCm39) D773A probably damaging Het
Atp2b3 T C X: 72,588,966 (GRCm39) probably benign Het
Atp8b5 T C 4: 43,291,693 (GRCm39) M22T probably benign Het
Birc6 T A 17: 74,967,606 (GRCm39) L4169H probably damaging Het
Cdc42bpa T C 1: 179,939,431 (GRCm39) V81A probably benign Het
Clcn2 A T 16: 20,532,369 (GRCm39) C80S probably damaging Het
Clu C T 14: 66,217,121 (GRCm39) A318V possibly damaging Het
Csnk1g2 A G 10: 80,475,463 (GRCm39) H378R probably benign Het
Decr2 T A 17: 26,301,926 (GRCm39) D268V probably damaging Het
Dpp3 T C 19: 4,968,332 (GRCm39) T247A possibly damaging Het
Eif4g1 A G 16: 20,500,966 (GRCm39) N774D possibly damaging Het
Epha4 A T 1: 77,403,475 (GRCm39) V344E probably damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ggcx T A 6: 72,406,941 (GRCm39) probably null Het
Gm1965 C T 6: 89,123,648 (GRCm39) noncoding transcript Het
Gmnn T C 13: 24,937,687 (GRCm39) E101G probably damaging Het
Grik2 C T 10: 49,404,082 (GRCm39) probably null Het
H2-M11 T A 17: 36,858,465 (GRCm39) D86E probably benign Het
Il6st T A 13: 112,618,077 (GRCm39) W164R probably damaging Het
Ilvbl G T 10: 78,412,602 (GRCm39) V108L possibly damaging Het
Klk10 A G 7: 43,431,013 (GRCm39) K19E possibly damaging Het
Mbd4 G T 6: 115,826,598 (GRCm39) T131N probably damaging Het
Ncapd3 T C 9: 26,983,120 (GRCm39) V956A possibly damaging Het
Nif3l1 A C 1: 58,494,771 (GRCm39) T247P probably damaging Het
Nrcam T C 12: 44,606,583 (GRCm39) V443A probably damaging Het
Or4c35 A G 2: 89,808,221 (GRCm39) Y33C probably damaging Het
Pigk T A 3: 152,428,157 (GRCm39) H61Q probably damaging Het
Pla2g4d C A 2: 120,105,768 (GRCm39) V431F possibly damaging Het
Pxt1 A T 17: 29,153,778 (GRCm39) H18Q possibly damaging Het
Rpusd4 T C 9: 35,184,757 (GRCm39) probably benign Het
Slc26a10 A G 10: 127,010,903 (GRCm39) V443A probably damaging Het
Smpx A G X: 156,497,676 (GRCm39) probably benign Het
Sptan1 A G 2: 29,908,491 (GRCm39) S1751G probably benign Het
Ush2a C T 1: 188,558,658 (GRCm39) T3629I probably benign Het
Vcan C T 13: 89,838,705 (GRCm39) V2280M probably damaging Het
Vmn1r30 T C 6: 58,412,619 (GRCm39) E71G probably benign Het
Vmn2r100 A T 17: 19,746,178 (GRCm39) I446F possibly damaging Het
Vmn2r75 A T 7: 85,813,455 (GRCm39) V449D probably damaging Het
Other mutations in Slc22a18
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-01-21