Incidental Mutation 'IGL00924:Slc22a20'
ID29505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a20
Ensembl Gene ENSMUSG00000037451
Gene Namesolute carrier family 22 (organic anion transporter), member 20
SynonymsmOAT6, LOC381203
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL00924
Quality Score
Status
Chromosome19
Chromosomal Location5970234-5986143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5970516 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 538 (K538E)
Ref Sequence ENSEMBL: ENSMUSP00000049473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041827]
Predicted Effect probably benign
Transcript: ENSMUST00000041827
AA Change: K538E

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: K538E

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,215,862 V112A probably benign Het
Atp1a4 T A 1: 172,246,772 I305F probably damaging Het
AW209491 A G 13: 14,637,075 N171S probably damaging Het
Bank1 G T 3: 136,247,634 A120E probably damaging Het
Bdp1 T A 13: 100,097,579 E206D possibly damaging Het
Brd1 T C 15: 88,729,409 K428E possibly damaging Het
C530008M17Rik A G 5: 76,858,986 T1065A unknown Het
Ccdc42 A G 11: 68,594,621 I191V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cpm T G 10: 117,676,066 I305S probably damaging Het
Dlc1 A T 8: 36,938,214 S140R probably benign Het
Dnajc14 A G 10: 128,817,319 T674A probably benign Het
Dnajc7 A G 11: 100,584,285 I437T possibly damaging Het
Entpd5 A T 12: 84,387,054 V147E probably damaging Het
Gpr139 A G 7: 119,184,287 C30R probably benign Het
Habp4 A G 13: 64,174,071 D174G probably damaging Het
Has3 T C 8: 106,878,599 F479S probably benign Het
Helb T A 10: 120,110,984 K141N probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kdm1b G A 13: 47,068,480 R465H probably benign Het
Lrrc57 A T 2: 120,606,051 M86K possibly damaging Het
Map7d1 A G 4: 126,238,605 V258A probably damaging Het
Mybbp1a T A 11: 72,443,567 F216Y probably damaging Het
Ncan T A 8: 70,108,389 M643L possibly damaging Het
Ngdn T C 14: 55,023,169 I278T probably damaging Het
Olfr1199 T C 2: 88,756,156 D173G possibly damaging Het
Olfr460 C T 6: 40,571,454 R23C probably benign Het
P4hb G T 11: 120,563,818 Q245K probably benign Het
Pcx G A 19: 4,620,937 V1089I probably benign Het
Phc3 A T 3: 30,936,475 M498K probably damaging Het
Pkd1 T A 17: 24,571,627 L1025* probably null Het
Sdhaf2 G A 19: 10,517,016 P110S probably damaging Het
Soga1 T G 2: 157,040,705 M476L probably damaging Het
Spag11b T A 8: 19,142,640 V78D probably damaging Het
Tgm3 T C 2: 130,038,374 C367R probably damaging Het
Unc5a G A 13: 55,004,514 E741K probably damaging Het
Vmn2r58 A T 7: 41,837,467 L668H probably damaging Het
Wdr62 G A 7: 30,265,218 T367I probably damaging Het
Wdr62 G A 7: 30,242,806 P603S probably damaging Het
Xab2 G A 8: 3,611,723 R577W probably damaging Het
Other mutations in Slc22a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02745:Slc22a20 APN 19 5972873 missense probably damaging 1.00
IGL02813:Slc22a20 APN 19 5984858 missense probably benign 0.00
IGL03384:Slc22a20 APN 19 5980374 nonsense probably null
R0309:Slc22a20 UTSW 19 5972957 missense probably damaging 1.00
R0762:Slc22a20 UTSW 19 5986008 missense probably damaging 0.99
R1652:Slc22a20 UTSW 19 5972942 missense probably damaging 1.00
R1670:Slc22a20 UTSW 19 5972848 splice site probably benign
R1800:Slc22a20 UTSW 19 5985667 missense probably benign 0.01
R1923:Slc22a20 UTSW 19 5971436 missense probably benign 0.00
R2202:Slc22a20 UTSW 19 5971525 missense possibly damaging 0.70
R4025:Slc22a20 UTSW 19 5985780 missense probably damaging 0.99
R4495:Slc22a20 UTSW 19 5984924 missense probably benign 0.27
R4751:Slc22a20 UTSW 19 5980460 missense probably benign 0.01
R6207:Slc22a20 UTSW 19 5985941 missense probably damaging 1.00
R6861:Slc22a20 UTSW 19 5971810 missense probably benign 0.01
R7243:Slc22a20 UTSW 19 5971571 missense probably damaging 1.00
Posted On2013-04-17