Incidental Mutation 'R0762:Slc22a20'
ID 72483
Institutional Source Beutler Lab
Gene Symbol Slc22a20
Ensembl Gene ENSMUSG00000037451
Gene Name solute carrier family 22 (organic anion transporter), member 20
Synonyms LOC381203, mOAT6
MMRRC Submission 038942-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R0762 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6020262-6036171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 6036036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 45 (P45S)
Ref Sequence ENSEMBL: ENSMUSP00000049473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025891] [ENSMUST00000041827] [ENSMUST00000164843]
AlphaFold Q80UJ1
Predicted Effect probably benign
Transcript: ENSMUST00000025891
SMART Domains Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942

DomainStartEndE-ValueType
CysPc 37 362 6.79e-180 SMART
calpain_III 365 521 7.38e-94 SMART
EFh 588 616 1.13e1 SMART
EFh 618 646 2.95e0 SMART
EFh 683 711 7.65e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000041827
AA Change: P45S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: P45S

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
Pfam:Sugar_tr 100 521 2.5e-27 PFAM
Pfam:MFS_1 132 475 1.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164843
SMART Domains Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942

DomainStartEndE-ValueType
CysPc 37 362 6.79e-180 SMART
calpain_III 365 521 7.38e-94 SMART
EFh 588 616 1.13e1 SMART
EFh 618 646 2.95e0 SMART
EFh 683 711 7.65e1 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 93.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,667 (GRCm39) N475I probably damaging Het
Adar T C 3: 89,647,290 (GRCm39) probably benign Het
Aldh3b3 A T 19: 4,015,747 (GRCm39) probably null Het
Amtn C T 5: 88,532,859 (GRCm39) T158I possibly damaging Het
Ap1g2 A G 14: 55,337,868 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,119,584 (GRCm39) Y318C probably damaging Het
Atg2b A C 12: 105,641,229 (GRCm39) V69G possibly damaging Het
Bbx G A 16: 50,045,529 (GRCm39) T236I possibly damaging Het
Bcl11b C T 12: 107,931,922 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,889,377 (GRCm39) I794V probably benign Het
Ccdc88a C T 11: 29,413,112 (GRCm39) probably benign Het
Cdhr3 C A 12: 33,110,300 (GRCm39) R328L probably benign Het
Ces2e T A 8: 105,656,496 (GRCm39) M242K probably damaging Het
Col12a1 A G 9: 79,588,656 (GRCm39) probably benign Het
Col3a1 T C 1: 45,360,686 (GRCm39) S39P unknown Het
Cplane1 A G 15: 8,247,900 (GRCm39) probably benign Het
Cyp2a5 T A 7: 26,538,298 (GRCm39) Y220* probably null Het
Dcc T A 18: 71,475,776 (GRCm39) probably benign Het
Dnajb8 A G 6: 88,200,036 (GRCm39) T191A probably damaging Het
Ephx2 A T 14: 66,339,628 (GRCm39) F199I probably damaging Het
Fancd2 A G 6: 113,551,619 (GRCm39) K1062E probably benign Het
Fbxo33 A G 12: 59,251,285 (GRCm39) V410A probably benign Het
Gars1 T G 6: 55,054,565 (GRCm39) probably null Het
Git1 A C 11: 77,390,660 (GRCm39) D132A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gucy1a1 T C 3: 82,002,203 (GRCm39) T44A unknown Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifnlr1 A G 4: 135,428,640 (GRCm39) K156E possibly damaging Het
Klf13 T C 7: 63,541,371 (GRCm39) N15S probably benign Het
Krt77 T C 15: 101,769,561 (GRCm39) probably null Het
Ldc1 A G 4: 130,115,417 (GRCm39) S44P probably damaging Het
Map4 C A 9: 109,867,546 (GRCm39) probably benign Het
Mthfr T C 4: 148,139,900 (GRCm39) I623T possibly damaging Het
Myo7b T A 18: 32,116,997 (GRCm39) T908S probably benign Het
Nbeal2 T G 9: 110,472,876 (GRCm39) probably benign Het
Nwd2 T G 5: 63,957,757 (GRCm39) F362L probably benign Het
Pcm1 A T 8: 41,714,057 (GRCm39) R208W probably damaging Het
Pkd2l1 T C 19: 44,138,909 (GRCm39) D647G probably benign Het
Plbd1 C T 6: 136,618,145 (GRCm39) V24M probably damaging Het
Polr2a G A 11: 69,625,943 (GRCm39) P1698S unknown Het
Prss12 T C 3: 123,279,153 (GRCm39) I410T probably damaging Het
Ptpre A G 7: 135,280,964 (GRCm39) N565S probably damaging Het
Rab44 T C 17: 29,364,244 (GRCm39) L606P unknown Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Rhd C T 4: 134,603,612 (GRCm39) probably benign Het
Rspo3 T A 10: 29,375,917 (GRCm39) probably benign Het
Sdccag8 T A 1: 176,773,710 (GRCm39) N555K probably benign Het
Skint6 T A 4: 112,722,848 (GRCm39) probably benign Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Spats2l T C 1: 57,925,043 (GRCm39) L127P possibly damaging Het
Taar8a T A 10: 23,952,975 (GRCm39) I193N probably benign Het
Ten1 C T 11: 116,107,510 (GRCm39) probably benign Het
Tfb2m T C 1: 179,373,398 (GRCm39) E100G probably damaging Het
Tom1 C T 8: 75,778,934 (GRCm39) probably benign Het
Vps52 G T 17: 34,178,985 (GRCm39) R171L probably damaging Het
Zcwpw2 A T 9: 117,843,182 (GRCm39) noncoding transcript Het
Zfhx4 G A 3: 5,468,880 (GRCm39) E3013K probably damaging Het
Zfp267 G A 3: 36,220,016 (GRCm39) D680N possibly damaging Het
Zfp777 C T 6: 48,006,294 (GRCm39) V411M probably damaging Het
Other mutations in Slc22a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Slc22a20 APN 19 6,020,544 (GRCm39) missense probably benign 0.13
IGL02745:Slc22a20 APN 19 6,022,901 (GRCm39) missense probably damaging 1.00
IGL02813:Slc22a20 APN 19 6,034,886 (GRCm39) missense probably benign 0.00
IGL03384:Slc22a20 APN 19 6,030,402 (GRCm39) nonsense probably null
R0309:Slc22a20 UTSW 19 6,022,985 (GRCm39) missense probably damaging 1.00
R1652:Slc22a20 UTSW 19 6,022,970 (GRCm39) missense probably damaging 1.00
R1670:Slc22a20 UTSW 19 6,022,876 (GRCm39) splice site probably benign
R1800:Slc22a20 UTSW 19 6,035,695 (GRCm39) missense probably benign 0.01
R1923:Slc22a20 UTSW 19 6,021,464 (GRCm39) missense probably benign 0.00
R2202:Slc22a20 UTSW 19 6,021,553 (GRCm39) missense possibly damaging 0.70
R4025:Slc22a20 UTSW 19 6,035,808 (GRCm39) missense probably damaging 0.99
R4495:Slc22a20 UTSW 19 6,034,952 (GRCm39) missense probably benign 0.27
R4751:Slc22a20 UTSW 19 6,030,488 (GRCm39) missense probably benign 0.01
R6207:Slc22a20 UTSW 19 6,035,969 (GRCm39) missense probably damaging 1.00
R6861:Slc22a20 UTSW 19 6,021,838 (GRCm39) missense probably benign 0.01
R7243:Slc22a20 UTSW 19 6,021,599 (GRCm39) missense probably damaging 1.00
R8055:Slc22a20 UTSW 19 6,021,439 (GRCm39) missense probably benign 0.02
R8359:Slc22a20 UTSW 19 6,021,554 (GRCm39) missense probably benign 0.00
R8552:Slc22a20 UTSW 19 6,035,698 (GRCm39) missense probably damaging 1.00
R9165:Slc22a20 UTSW 19 6,032,879 (GRCm39) missense probably damaging 1.00
R9232:Slc22a20 UTSW 19 6,023,009 (GRCm39) missense possibly damaging 0.93
R9453:Slc22a20 UTSW 19 6,023,024 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCTTCGGTCGTAGACCCAAC -3'
(R):5'- CCTGTGAGGTGTAACTTGATCCTTCTG -3'

Sequencing Primer
(F):5'- GTCGTAGACCCAACCATCCTTG -3'
(R):5'- GTAACTTGATCCTTCTGAGATGC -3'
Posted On 2013-09-30