Incidental Mutation 'R6954:Slc22a6'
ID 541396
Institutional Source Beutler Lab
Gene Symbol Slc22a6
Ensembl Gene ENSMUSG00000024650
Gene Name solute carrier family 22 (organic anion transporter), member 6
Synonyms mOat1, Orctl1, NKT, Oat1
MMRRC Submission 045066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6954 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8595403-8605663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8599460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 320 (A320T)
Ref Sequence ENSEMBL: ENSMUSP00000010250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010250]
AlphaFold Q8VC69
Predicted Effect probably benign
Transcript: ENSMUST00000010250
AA Change: A320T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: A320T

DomainStartEndE-ValueType
Pfam:MFS_1 107 467 2.4e-25 PFAM
Pfam:Sugar_tr 107 512 8e-33 PFAM
low complexity region 520 531 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,809 (GRCm39) probably null Het
Alox5 A C 6: 116,397,241 (GRCm39) Y314* probably null Het
Ap4e1 T C 2: 126,906,871 (GRCm39) S1044P probably benign Het
Ash2l A G 8: 26,312,796 (GRCm39) V391A possibly damaging Het
B4galnt4 A G 7: 140,647,145 (GRCm39) T326A probably benign Het
Ccm2 T A 11: 6,544,239 (GRCm39) I345N probably damaging Het
Cntnap3 G A 13: 64,896,373 (GRCm39) H1034Y probably benign Het
Cpsf1 A G 15: 76,483,696 (GRCm39) L849S probably damaging Het
Ctrb1 A G 8: 112,413,296 (GRCm39) S239P probably damaging Het
Dennd1b T A 1: 139,096,683 (GRCm39) probably benign Het
Dnah17 A G 11: 117,957,258 (GRCm39) I2773T probably damaging Het
Eif2b2 T A 12: 85,272,817 (GRCm39) F267L probably damaging Het
Fcrl2 A G 3: 87,170,983 (GRCm39) probably benign Het
Furin G T 7: 80,046,712 (GRCm39) D181E possibly damaging Het
Gm29106 T A 1: 118,128,317 (GRCm39) C670S probably damaging Het
Gm6309 A T 5: 146,105,300 (GRCm39) D204E possibly damaging Het
Hsf2 T A 10: 57,380,739 (GRCm39) I191N probably damaging Het
Hspa12a T C 19: 58,788,124 (GRCm39) D566G probably benign Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Igfbpl1 C T 4: 45,826,663 (GRCm39) C44Y probably damaging Het
Letm1 G A 5: 33,939,851 (GRCm39) R16C probably benign Het
Lypd8l T A 11: 58,499,314 (GRCm39) Y168F probably benign Het
Marf1 A G 16: 13,956,384 (GRCm39) V819A probably damaging Het
Mfsd4b4 A T 10: 39,767,948 (GRCm39) S428T probably benign Het
Myo1d T C 11: 80,565,783 (GRCm39) I347M probably benign Het
Myo9b A G 8: 71,743,463 (GRCm39) I175V probably damaging Het
Naip5 A T 13: 100,359,922 (GRCm39) V438E probably damaging Het
Nup205 T A 6: 35,185,044 (GRCm39) V768E possibly damaging Het
Or4k6 A T 14: 50,475,567 (GRCm39) Y258* probably null Het
Or9g4b T A 2: 85,616,726 (GRCm39) Y290* probably null Het
Pcdh15 C T 10: 74,481,821 (GRCm39) H1651Y possibly damaging Het
Pdgfra A T 5: 75,334,055 (GRCm39) Q376L possibly damaging Het
Pign T C 1: 105,481,622 (GRCm39) I791M probably benign Het
Pik3c2b T G 1: 132,994,041 (GRCm39) S2A possibly damaging Het
Pip5k1a A T 3: 94,975,558 (GRCm39) I304K probably damaging Het
Pkdrej A T 15: 85,702,054 (GRCm39) L1294* probably null Het
Pprc1 T C 19: 46,052,872 (GRCm39) S797P probably damaging Het
Prob1 A G 18: 35,787,321 (GRCm39) V311A probably benign Het
Prune2 C A 19: 16,977,385 (GRCm39) T40K probably damaging Het
Rif1 T G 2: 52,002,703 (GRCm39) D2052E probably benign Het
Sall1 A G 8: 89,759,519 (GRCm39) V195A probably damaging Het
Scfd1 T C 12: 51,474,729 (GRCm39) probably null Het
Sidt2 A T 9: 45,864,148 (GRCm39) N123K probably benign Het
Slc25a10 A G 11: 120,388,973 (GRCm39) H279R probably benign Het
Slc35b4 A G 6: 34,135,556 (GRCm39) V252A probably benign Het
Slc46a3 T C 5: 147,823,150 (GRCm39) T231A probably benign Het
Stxbp1 T A 2: 32,691,905 (GRCm39) H429L probably damaging Het
Tas2r134 C T 2: 51,517,782 (GRCm39) T87I probably benign Het
Tcstv6 A G 13: 120,307,666 (GRCm39) D20G possibly damaging Het
Tdpoz2 A T 3: 93,559,582 (GRCm39) L130H probably damaging Het
Tmem69 T C 4: 116,411,921 (GRCm39) probably null Het
Tmppe G A 9: 114,234,591 (GRCm39) V297I probably benign Het
Ung G T 5: 114,269,398 (GRCm39) A37S probably benign Het
Vdac1 T C 11: 52,277,200 (GRCm39) Y237H probably damaging Het
Vgll4 T C 6: 114,898,328 (GRCm39) Y11C probably damaging Het
Vmn1r24 A G 6: 57,933,437 (GRCm39) I27T probably benign Het
Zfp280b T A 10: 75,875,522 (GRCm39) M467K probably benign Het
Zkscan4 A G 13: 21,668,535 (GRCm39) I329V probably damaging Het
Other mutations in Slc22a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc22a6 APN 19 8,599,232 (GRCm39) missense probably benign 0.14
IGL00825:Slc22a6 APN 19 8,595,721 (GRCm39) missense possibly damaging 0.94
IGL01362:Slc22a6 APN 19 8,598,572 (GRCm39) missense possibly damaging 0.69
IGL01843:Slc22a6 APN 19 8,603,578 (GRCm39) utr 3 prime probably benign
IGL02583:Slc22a6 APN 19 8,600,980 (GRCm39) missense possibly damaging 0.79
R1004:Slc22a6 UTSW 19 8,595,763 (GRCm39) missense probably damaging 1.00
R1775:Slc22a6 UTSW 19 8,596,471 (GRCm39) critical splice donor site probably null
R1911:Slc22a6 UTSW 19 8,599,246 (GRCm39) missense probably benign
R2365:Slc22a6 UTSW 19 8,596,761 (GRCm39) missense probably benign
R3406:Slc22a6 UTSW 19 8,598,675 (GRCm39) missense probably damaging 1.00
R4106:Slc22a6 UTSW 19 8,595,874 (GRCm39) missense probably benign
R4693:Slc22a6 UTSW 19 8,601,016 (GRCm39) missense probably damaging 1.00
R5094:Slc22a6 UTSW 19 8,603,541 (GRCm39) missense probably damaging 1.00
R5347:Slc22a6 UTSW 19 8,595,917 (GRCm39) missense possibly damaging 0.94
R5360:Slc22a6 UTSW 19 8,596,786 (GRCm39) missense probably damaging 1.00
R5667:Slc22a6 UTSW 19 8,599,148 (GRCm39) critical splice acceptor site probably null
R5810:Slc22a6 UTSW 19 8,601,222 (GRCm39) missense probably damaging 1.00
R6176:Slc22a6 UTSW 19 8,599,161 (GRCm39) missense probably damaging 1.00
R6336:Slc22a6 UTSW 19 8,599,494 (GRCm39) missense probably benign 0.02
R6864:Slc22a6 UTSW 19 8,595,805 (GRCm39) missense probably damaging 1.00
R7298:Slc22a6 UTSW 19 8,598,684 (GRCm39) missense possibly damaging 0.49
R7305:Slc22a6 UTSW 19 8,599,522 (GRCm39) critical splice donor site probably null
R7681:Slc22a6 UTSW 19 8,603,493 (GRCm39) missense probably benign 0.03
R7749:Slc22a6 UTSW 19 8,599,260 (GRCm39) missense possibly damaging 0.48
R7937:Slc22a6 UTSW 19 8,601,253 (GRCm39) missense probably benign 0.07
R8346:Slc22a6 UTSW 19 8,599,169 (GRCm39) missense probably damaging 1.00
R8347:Slc22a6 UTSW 19 8,599,169 (GRCm39) missense probably damaging 1.00
R8348:Slc22a6 UTSW 19 8,599,169 (GRCm39) missense probably damaging 1.00
R8363:Slc22a6 UTSW 19 8,596,386 (GRCm39) missense probably benign
R8698:Slc22a6 UTSW 19 8,600,889 (GRCm39) missense probably benign
R9431:Slc22a6 UTSW 19 8,598,596 (GRCm39) missense probably benign 0.10
R9602:Slc22a6 UTSW 19 8,598,560 (GRCm39) nonsense probably null
R9774:Slc22a6 UTSW 19 8,603,134 (GRCm39) missense probably benign 0.00
Z1088:Slc22a6 UTSW 19 8,599,197 (GRCm39) missense probably benign 0.03
Z1176:Slc22a6 UTSW 19 8,600,907 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TTGTTCCTAGACACCGCCTG -3'
(R):5'- TAGTGACCAGTTTGAGCCCAG -3'

Sequencing Primer
(F):5'- TAGACACCGCCTGAGCTC -3'
(R):5'- TGAGGCTCTCGCAGATCTAC -3'
Posted On 2018-11-28