Incidental Mutation 'IGL02828:Slc22a13'
ID 361303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a13
Ensembl Gene ENSMUSG00000074028
Gene Name solute carrier family 22 (organic cation transporter), member 13
Synonyms OCTL3, OCTL1, ORCTL3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02828
Quality Score
Status
Chromosome 9
Chromosomal Location 119022040-119038164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119024773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 235 (L235I)
Ref Sequence ENSEMBL: ENSMUSP00000081855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084797] [ENSMUST00000170400]
AlphaFold Q6A4L0
Predicted Effect probably benign
Transcript: ENSMUST00000084797
AA Change: L235I

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081855
Gene: ENSMUSG00000074028
AA Change: L235I

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Sugar_tr 104 514 2.2e-41 PFAM
Pfam:MFS_1 133 468 2.6e-26 PFAM
Pfam:MFS_1 355 537 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170400
SMART Domains Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Sugar_tr 150 555 1.2e-28 PFAM
Pfam:MFS_1 178 514 7.6e-28 PFAM
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 encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,871,720 (GRCm39) T86I probably damaging Het
Adam28 C T 14: 68,884,319 (GRCm39) S93N possibly damaging Het
Adamts6 T C 13: 104,433,978 (GRCm39) Y136H probably damaging Het
Ahdc1 A T 4: 132,790,232 (GRCm39) K491I possibly damaging Het
Alb C A 5: 90,615,247 (GRCm39) A253E probably benign Het
Asb18 A G 1: 89,923,932 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,718 (GRCm39) N1909K possibly damaging Het
Atosa G T 9: 74,913,714 (GRCm39) A123S probably damaging Het
Atp12a T A 14: 56,613,599 (GRCm39) V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 (GRCm38) G334W probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Clec2h T A 6: 128,652,885 (GRCm39) H217Q probably benign Het
Col6a3 T C 1: 90,724,281 (GRCm39) E1416G probably damaging Het
Dcaf1 T A 9: 106,721,501 (GRCm39) probably benign Het
Ddr2 C T 1: 169,816,082 (GRCm39) A542T probably benign Het
Ebf3 T C 7: 136,909,247 (GRCm39) N174S probably damaging Het
Ecpas A G 4: 58,875,512 (GRCm39) S151P possibly damaging Het
Ephb2 A G 4: 136,498,461 (GRCm39) I206T probably benign Het
Fbxo39 T A 11: 72,208,041 (GRCm39) I131N possibly damaging Het
Fdxacb1 G A 9: 50,682,864 (GRCm39) V276I possibly damaging Het
Gpr146 A T 5: 139,378,576 (GRCm39) Y126F probably damaging Het
Hivep3 A T 4: 119,954,929 (GRCm39) K1082* probably null Het
Ifnar1 T A 16: 91,302,304 (GRCm39) probably null Het
Kap A G 6: 133,829,057 (GRCm39) V25A probably benign Het
Klhl2 C A 8: 65,232,791 (GRCm39) R162L probably damaging Het
Kmt2a A G 9: 44,733,244 (GRCm39) probably benign Het
Lrp4 A G 2: 91,305,639 (GRCm39) N303S probably benign Het
Mtpap A T 18: 4,386,207 (GRCm39) N276Y probably damaging Het
Nlrp5 G A 7: 23,120,885 (GRCm39) G684S possibly damaging Het
Or10g3b T C 14: 52,586,799 (GRCm39) R235G probably benign Het
Or14a256 A T 7: 86,265,277 (GRCm39) V192E possibly damaging Het
Pak2 A T 16: 31,840,674 (GRCm39) L469H probably damaging Het
Pcdhb15 T A 18: 37,606,903 (GRCm39) L45Q probably damaging Het
Pi4ka A T 16: 17,098,575 (GRCm39) probably benign Het
Picalm A G 7: 89,826,709 (GRCm39) T386A probably benign Het
Pkd1l2 T C 8: 117,756,298 (GRCm39) T1645A probably benign Het
Plekhm2 A T 4: 141,356,941 (GRCm39) V754E probably damaging Het
Pramel25 A T 4: 143,521,695 (GRCm39) D437V possibly damaging Het
Rbl1 T A 2: 157,041,384 (GRCm39) E81V probably damaging Het
Rbp4 C A 19: 38,106,717 (GRCm39) probably null Het
Rdh12 T C 12: 79,265,459 (GRCm39) V211A probably damaging Het
Ret G A 6: 118,153,168 (GRCm39) A500V probably benign Het
Rin1 T C 19: 5,103,118 (GRCm39) F469S possibly damaging Het
Rmc1 C A 18: 12,322,278 (GRCm39) A577D possibly damaging Het
Rsc1a1 G T 4: 141,411,479 (GRCm39) P478T probably damaging Het
Setd2 A T 9: 110,390,282 (GRCm39) Y1579F probably benign Het
Sh3bp5 A T 14: 31,156,106 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,111,948 (GRCm39) T172S possibly damaging Het
Slitrk1 G T 14: 109,149,048 (GRCm39) S554R possibly damaging Het
Tg G A 15: 66,554,243 (GRCm39) G553S probably damaging Het
Tmem26 G A 10: 68,611,215 (GRCm39) probably null Het
Trpm2 A T 10: 77,754,820 (GRCm39) L1222Q probably benign Het
Vdac2 T C 14: 21,893,957 (GRCm39) V249A probably benign Het
Vmn1r170 T C 7: 23,305,943 (GRCm39) V115A probably damaging Het
Vmn2r105 A G 17: 20,429,345 (GRCm39) V577A possibly damaging Het
Xpo1 A G 11: 23,232,593 (GRCm39) E371G probably damaging Het
Zfp106 A C 2: 120,362,178 (GRCm39) H980Q possibly damaging Het
Other mutations in Slc22a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Slc22a13 APN 9 119,025,077 (GRCm39) missense probably benign 0.01
R0764:Slc22a13 UTSW 9 119,037,746 (GRCm39) splice site probably null
R1469:Slc22a13 UTSW 9 119,022,361 (GRCm39) missense possibly damaging 0.67
R1469:Slc22a13 UTSW 9 119,022,361 (GRCm39) missense possibly damaging 0.67
R1545:Slc22a13 UTSW 9 119,038,113 (GRCm39) missense probably benign 0.00
R2154:Slc22a13 UTSW 9 119,037,753 (GRCm39) missense probably benign 0.00
R2321:Slc22a13 UTSW 9 119,024,694 (GRCm39) missense possibly damaging 0.61
R3808:Slc22a13 UTSW 9 119,025,143 (GRCm39) missense probably benign
R3840:Slc22a13 UTSW 9 119,037,855 (GRCm39) missense probably benign 0.18
R4736:Slc22a13 UTSW 9 119,022,698 (GRCm39) missense probably damaging 1.00
R6286:Slc22a13 UTSW 9 119,037,778 (GRCm39) nonsense probably null
R6899:Slc22a13 UTSW 9 119,025,473 (GRCm39) missense probably damaging 1.00
R7579:Slc22a13 UTSW 9 119,024,226 (GRCm39) missense possibly damaging 0.62
R8755:Slc22a13 UTSW 9 119,038,126 (GRCm39) start codon destroyed probably damaging 0.98
Z1177:Slc22a13 UTSW 9 119,022,370 (GRCm39) missense probably benign
Posted On 2015-12-18