Incidental Mutation 'IGL01657:Slc22a18'
ID103036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a18
Ensembl Gene ENSMUSG00000000154
Gene Namesolute carrier family 22 (organic cation transporter), member 18
Synonymsp45-BWR1A, Impt1, BWSCR1A, Orctl2, BWR1A, Slc22a1l, IMPT1, TSSC5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01657
Quality Score
Status
Chromosome7
Chromosomal Location143473736-143499334 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 143499100 bp
ZygosityHeterozygous
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]
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: 25,826,493 F90L probably benign Het
Anapc4 T A 5: 52,864,626 Y683* probably null Het
Astn2 T G 4: 65,651,949 D773A probably damaging Het
Atp2b3 T C X: 73,545,360 probably benign Het
Atp8b5 T C 4: 43,291,693 M22T probably benign Het
Birc6 T A 17: 74,660,611 L4169H probably damaging Het
Cdc42bpa T C 1: 180,111,866 V81A probably benign Het
Clcn2 A T 16: 20,713,619 C80S probably damaging Het
Clu C T 14: 65,979,672 A318V possibly damaging Het
Csnk1g2 A G 10: 80,639,629 H378R probably benign Het
Decr2 T A 17: 26,082,952 D268V probably damaging Het
Dpp3 T C 19: 4,918,304 T247A possibly damaging Het
Eif4g1 A G 16: 20,682,216 N774D possibly damaging Het
Epha4 A T 1: 77,426,838 V344E probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ggcx T A 6: 72,429,958 probably null Het
Gm1965 C T 6: 89,146,666 noncoding transcript Het
Gmnn T C 13: 24,753,704 E101G probably damaging Het
Grik2 C T 10: 49,527,986 probably null Het
H2-M11 T A 17: 36,547,573 D86E probably benign Het
Il6st T A 13: 112,481,543 W164R probably damaging Het
Ilvbl G T 10: 78,576,768 V108L possibly damaging Het
Klk10 A G 7: 43,781,589 K19E possibly damaging Het
Mbd4 G T 6: 115,849,637 T131N probably damaging Het
Ncapd3 T C 9: 27,071,824 V956A possibly damaging Het
Nif3l1 A C 1: 58,455,612 T247P probably damaging Het
Nrcam T C 12: 44,559,800 V443A probably damaging Het
Olfr1260 A G 2: 89,977,877 Y33C probably damaging Het
Pigk T A 3: 152,722,520 H61Q probably damaging Het
Pla2g4d C A 2: 120,275,287 V431F possibly damaging Het
Pxt1 A T 17: 28,934,804 H18Q possibly damaging Het
Rpusd4 T C 9: 35,273,461 probably benign Het
Slc26a10 A G 10: 127,175,034 V443A probably damaging Het
Smpx A G X: 157,714,680 probably benign Het
Sptan1 A G 2: 30,018,479 S1751G probably benign Het
Ush2a C T 1: 188,826,461 T3629I probably benign Het
Vcan C T 13: 89,690,586 V2280M probably damaging Het
Vmn1r30 T C 6: 58,435,634 E71G probably benign Het
Vmn2r100 A T 17: 19,525,916 I446F possibly damaging Het
Vmn2r75 A T 7: 86,164,247 V449D probably damaging Het
Other mutations in Slc22a18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Slc22a18 APN 7 143479316 missense probably damaging 1.00
IGL02458:Slc22a18 APN 7 143492837 splice site probably benign
IGL02626:Slc22a18 APN 7 143499100 missense probably damaging 1.00
PIT4810001:Slc22a18 UTSW 7 143492931 missense probably benign 0.00
R0294:Slc22a18 UTSW 7 143492841 critical splice acceptor site probably null
R0571:Slc22a18 UTSW 7 143491861 splice site probably benign
R1951:Slc22a18 UTSW 7 143476247 missense probably damaging 1.00
R1953:Slc22a18 UTSW 7 143476247 missense probably damaging 1.00
R2352:Slc22a18 UTSW 7 143497415 missense probably benign 0.02
R3900:Slc22a18 UTSW 7 143479770 missense probably damaging 1.00
R5317:Slc22a18 UTSW 7 143499159 missense probably damaging 1.00
R5428:Slc22a18 UTSW 7 143479345 missense probably damaging 1.00
R7672:Slc22a18 UTSW 7 143490820 missense probably damaging 1.00
R7684:Slc22a18 UTSW 7 143490840 missense probably benign 0.00
R7688:Slc22a18 UTSW 7 143479823 missense probably damaging 1.00
R8130:Slc22a18 UTSW 7 143499174 missense probably damaging 1.00
Z1177:Slc22a18 UTSW 7 143497042 missense probably damaging 1.00
Posted On2014-01-21