Incidental Mutation 'R1414:Slc22a1'
ID 159757
Institutional Source Beutler Lab
Gene Symbol Slc22a1
Ensembl Gene ENSMUSG00000023829
Gene Name solute carrier family 22 (organic cation transporter), member 1
Synonyms Oct1, Lx1, Orct1, Oct1, Orct
MMRRC Submission 039470-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1414 (G1)
Quality Score 190
Status Validated
Chromosome 17
Chromosomal Location 12867756-12894716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12881487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 334 (S334L)
Ref Sequence ENSEMBL: ENSMUSP00000024596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024596]
AlphaFold O08966
Predicted Effect probably damaging
Transcript: ENSMUST00000024596
AA Change: S334L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024596
Gene: ENSMUSG00000023829
AA Change: S334L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:MFS_1 134 482 1.3e-25 PFAM
Pfam:Sugar_tr 143 529 5.3e-33 PFAM
Meta Mutation Damage Score 0.3182 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.2%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 T A 15: 64,030,733 (GRCm39) S315C possibly damaging Het
Cdc27 A G 11: 104,412,251 (GRCm39) V452A probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dnajc10 C A 2: 80,178,021 (GRCm39) T676K probably damaging Het
Efhc1 C T 1: 21,031,513 (GRCm39) T237I probably damaging Het
Fn1 A G 1: 71,640,462 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hfm1 T C 5: 107,020,219 (GRCm39) D1069G probably benign Het
Hspa9 T C 18: 35,071,644 (GRCm39) Y652C probably damaging Het
Lrfn2 A G 17: 49,377,857 (GRCm39) I313V probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mxra8 A G 4: 155,925,464 (GRCm39) M58V probably damaging Het
Myh3 A G 11: 66,989,491 (GRCm39) E1537G probably damaging Het
Nlrp3 A G 11: 59,440,357 (GRCm39) M645V probably benign Het
Nlrp4d T A 7: 10,116,528 (GRCm39) I118F probably benign Het
Oas1f A G 5: 120,989,522 (GRCm39) probably benign Het
Pkp1 A G 1: 135,811,823 (GRCm39) probably benign Het
Plcb3 T C 19: 6,940,385 (GRCm39) Y428C probably damaging Het
Pomt1 C A 2: 32,133,622 (GRCm39) probably benign Het
Prex1 G A 2: 166,435,781 (GRCm39) R589C probably damaging Het
Prr5 C T 15: 84,583,912 (GRCm39) Q171* probably null Het
Ptar1 T A 19: 23,697,655 (GRCm39) L389Q possibly damaging Het
Rufy2 T A 10: 62,837,978 (GRCm39) L375* probably null Het
Slc34a1 T C 13: 55,548,524 (GRCm39) S45P probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Tafa4 A G 6: 96,991,440 (GRCm39) V3A probably benign Het
Tnc A G 4: 63,883,932 (GRCm39) probably benign Het
Tpm3-rs7 T C 14: 113,552,274 (GRCm39) I56T possibly damaging Het
Zbtb11 T A 16: 55,810,923 (GRCm39) C360* probably null Het
Zfp263 T C 16: 3,567,160 (GRCm39) C204R probably damaging Het
Other mutations in Slc22a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Slc22a1 APN 17 12,869,749 (GRCm39) splice site probably benign
IGL02313:Slc22a1 APN 17 12,894,387 (GRCm39) nonsense probably null
IGL02578:Slc22a1 APN 17 12,886,126 (GRCm39) missense probably damaging 1.00
R0017:Slc22a1 UTSW 17 12,878,646 (GRCm39) missense probably damaging 1.00
R0136:Slc22a1 UTSW 17 12,881,483 (GRCm39) missense probably benign 0.03
R0306:Slc22a1 UTSW 17 12,881,485 (GRCm39) missense probably benign 0.03
R0408:Slc22a1 UTSW 17 12,875,828 (GRCm39) missense probably damaging 1.00
R0487:Slc22a1 UTSW 17 12,881,487 (GRCm39) nonsense probably null
R0654:Slc22a1 UTSW 17 12,881,679 (GRCm39) missense probably damaging 1.00
R0811:Slc22a1 UTSW 17 12,885,505 (GRCm39) splice site probably benign
R0866:Slc22a1 UTSW 17 12,875,933 (GRCm39) missense probably benign 0.00
R1490:Slc22a1 UTSW 17 12,881,780 (GRCm39) splice site probably null
R4801:Slc22a1 UTSW 17 12,894,422 (GRCm39) missense probably damaging 1.00
R4802:Slc22a1 UTSW 17 12,894,422 (GRCm39) missense probably damaging 1.00
R5101:Slc22a1 UTSW 17 12,886,129 (GRCm39) missense probably damaging 1.00
R5147:Slc22a1 UTSW 17 12,869,838 (GRCm39) missense probably damaging 1.00
R6816:Slc22a1 UTSW 17 12,871,370 (GRCm39) missense possibly damaging 0.83
R6875:Slc22a1 UTSW 17 12,886,192 (GRCm39) nonsense probably null
R7263:Slc22a1 UTSW 17 12,885,587 (GRCm39) missense probably damaging 1.00
R7295:Slc22a1 UTSW 17 12,875,892 (GRCm39) missense probably benign 0.09
R7947:Slc22a1 UTSW 17 12,871,310 (GRCm39) missense probably benign 0.00
R9123:Slc22a1 UTSW 17 12,878,598 (GRCm39) missense probably benign 0.00
R9125:Slc22a1 UTSW 17 12,878,598 (GRCm39) missense probably benign 0.00
R9336:Slc22a1 UTSW 17 12,886,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGAAGACTCAGGCGTCAGGAC -3'
(R):5'- AGCCATGCATCGAACGGATCAC -3'

Sequencing Primer
(F):5'- CGTCAGGACTGTGCTGAG -3'
(R):5'- TCGAACGGATCACTCTTGCTAAG -3'
Posted On 2014-03-14