Incidental Mutation 'IGL02745:Slc22a20'
ID 306133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a20
Ensembl Gene ENSMUSG00000037451
Gene Name solute carrier family 22 (organic anion transporter), member 20
Synonyms LOC381203, mOAT6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # IGL02745
Quality Score
Status
Chromosome 19
Chromosomal Location 6020262-6036171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6022901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 414 (N414S)
Ref Sequence ENSEMBL: ENSMUSP00000049473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041827]
AlphaFold Q80UJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000041827
AA Change: N414S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: N414S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,282 (GRCm39) E167G probably benign Het
Aldh1a1 A G 19: 20,614,028 (GRCm39) probably benign Het
Ankrd44 T C 1: 54,805,950 (GRCm39) H152R probably damaging Het
Bpifb4 T A 2: 153,789,141 (GRCm39) L316Q probably damaging Het
C2cd5 A T 6: 142,987,256 (GRCm39) L155I probably benign Het
Chrdl2 T A 7: 99,670,170 (GRCm39) C98S probably damaging Het
Clnk A G 5: 38,893,662 (GRCm39) S232P probably benign Het
Csf3 A G 11: 98,593,303 (GRCm39) D140G probably damaging Het
Dnah7b T A 1: 46,234,189 (GRCm39) probably benign Het
Fetub T C 16: 22,756,676 (GRCm39) V259A probably damaging Het
Gga2 G T 7: 121,607,592 (GRCm39) R108S probably damaging Het
Hip1r C A 5: 124,129,002 (GRCm39) probably null Het
Hsd17b3 A G 13: 64,234,990 (GRCm39) F62L probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Man1a C T 10: 53,853,206 (GRCm39) R304Q probably damaging Het
Med17 A G 9: 15,176,642 (GRCm39) probably benign Het
Mrgprb4 T C 7: 47,848,106 (GRCm39) Y274C probably damaging Het
Myh8 C T 11: 67,188,327 (GRCm39) T996I possibly damaging Het
Niban3 G T 8: 72,057,682 (GRCm39) probably null Het
Nlrp4e T A 7: 23,020,716 (GRCm39) L401Q probably damaging Het
Oas1h G A 5: 120,999,542 (GRCm39) R9Q probably benign Het
Or4c111 A G 2: 88,844,232 (GRCm39) Y59H probably damaging Het
Or4d10b C T 19: 12,036,565 (GRCm39) V184I probably benign Het
Or8g51 T C 9: 38,609,494 (GRCm39) H56R probably damaging Het
Otor A G 2: 142,923,076 (GRCm39) D122G possibly damaging Het
Pcdh18 T A 3: 49,710,340 (GRCm39) Q325L probably damaging Het
Ppfibp1 T C 6: 146,923,852 (GRCm39) probably benign Het
Pramel16 A T 4: 143,677,294 (GRCm39) L95Q probably damaging Het
Prlr T A 15: 10,328,680 (GRCm39) I385N possibly damaging Het
Rap1gds1 A G 3: 138,662,002 (GRCm39) V418A probably damaging Het
Rdh1 A T 10: 127,601,288 (GRCm39) T279S probably benign Het
Slc17a3 C A 13: 24,026,469 (GRCm39) Q13K probably benign Het
Slc4a1 C A 11: 102,247,093 (GRCm39) C498F probably damaging Het
Sp8 G A 12: 118,813,326 (GRCm39) G394S probably damaging Het
Ssh2 C T 11: 77,346,233 (GRCm39) T1406I probably damaging Het
Stra6 T A 9: 58,059,321 (GRCm39) D561E probably damaging Het
Stxbp5l G A 16: 37,007,016 (GRCm39) Q726* probably null Het
Synpo2 G A 3: 122,907,261 (GRCm39) T685I probably damaging Het
Tasor2 A T 13: 3,635,140 (GRCm39) S556T probably benign Het
Ttc27 A G 17: 75,046,728 (GRCm39) D263G probably benign Het
Ttn G A 2: 76,594,332 (GRCm39) P18793S possibly damaging Het
Vmn2r109 A G 17: 20,761,512 (GRCm39) V615A probably damaging Het
Vmn2r76 T G 7: 85,879,495 (GRCm39) K268N probably benign Het
Zeb2 A G 2: 44,884,487 (GRCm39) probably benign Het
Zfp286 C A 11: 62,671,700 (GRCm39) K124N probably damaging Het
Other mutations in Slc22a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Slc22a20 APN 19 6,020,544 (GRCm39) missense probably benign 0.13
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
R0762:Slc22a20 UTSW 19 6,036,036 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16