Incidental Mutation 'IGL00825:Slc22a6'
ID14057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a6
Ensembl Gene ENSMUSG00000024650
Gene Namesolute carrier family 22 (organic anion transporter), member 6
SynonymsNKT, Oat1, mOat1, Orctl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL00825
Quality Score
Status
Chromosome19
Chromosomal Location8617996-8628299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8618357 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
Ref Sequence ENSEMBL: ENSMUSP00000010250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010250]
Predicted Effect possibly damaging
Transcript: ENSMUST00000010250
AA Change: V21A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: V21A

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
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 C T 18: 10,704,657 V129M probably benign Het
Casp8 G A 1: 58,829,006 S202N probably benign Het
Clec2g C A 6: 128,980,181 probably null Het
Dnah7b T C 1: 46,224,651 Y2098H probably damaging Het
Dzip3 T C 16: 48,928,415 K1053E probably damaging Het
Ern1 T C 11: 106,421,967 K196R probably benign Het
Jcad A T 18: 4,673,516 Y426F probably damaging Het
Kansl1l T C 1: 66,801,512 T210A probably benign Het
Map2k2 G A 10: 81,118,218 V173I probably benign Het
Odf3l1 A G 9: 56,851,691 I60T probably benign Het
P3h2 A G 16: 25,992,798 I225T probably damaging Het
Pld2 G A 11: 70,551,180 W337* probably null Het
Ppp2r2b C T 18: 42,645,775 V429M probably damaging Het
Pprc1 G T 19: 46,071,406 probably benign Het
Ptpn4 A G 1: 119,659,925 probably benign Het
Rap1gds1 T A 3: 138,983,827 I135F possibly damaging Het
Rasa2 A T 9: 96,570,719 N371K probably benign Het
Rbbp8 A G 18: 11,722,607 T604A probably benign Het
Safb2 A G 17: 56,571,208 probably null Het
Sec23ip C A 7: 128,767,609 L686I probably damaging Het
Slco1c1 A T 6: 141,542,142 N79Y probably damaging Het
Tbl1xr1 G T 3: 22,189,786 probably null Het
Zfp961 T A 8: 71,968,044 C134S possibly damaging Het
Other mutations in Slc22a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Slc22a6 APN 19 8621868 missense probably benign 0.14
IGL01362:Slc22a6 APN 19 8621208 missense possibly damaging 0.69
IGL01843:Slc22a6 APN 19 8626214 utr 3 prime probably benign
IGL02583:Slc22a6 APN 19 8623616 missense possibly damaging 0.79
R1004:Slc22a6 UTSW 19 8618399 missense probably damaging 1.00
R1775:Slc22a6 UTSW 19 8619107 critical splice donor site probably null
R1911:Slc22a6 UTSW 19 8621882 missense probably benign
R2365:Slc22a6 UTSW 19 8619397 missense probably benign
R3406:Slc22a6 UTSW 19 8621311 missense probably damaging 1.00
R4106:Slc22a6 UTSW 19 8618510 missense probably benign
R4693:Slc22a6 UTSW 19 8623652 missense probably damaging 1.00
R5094:Slc22a6 UTSW 19 8626177 missense probably damaging 1.00
R5347:Slc22a6 UTSW 19 8618553 missense possibly damaging 0.94
R5360:Slc22a6 UTSW 19 8619422 missense probably damaging 1.00
R5667:Slc22a6 UTSW 19 8621784 critical splice acceptor site probably null
R5810:Slc22a6 UTSW 19 8623858 missense probably damaging 1.00
R6176:Slc22a6 UTSW 19 8621797 missense probably damaging 1.00
R6336:Slc22a6 UTSW 19 8622130 missense probably benign 0.02
R6864:Slc22a6 UTSW 19 8618441 missense probably damaging 1.00
R6954:Slc22a6 UTSW 19 8622096 missense probably benign 0.02
R7298:Slc22a6 UTSW 19 8621320 missense possibly damaging 0.49
R7305:Slc22a6 UTSW 19 8622158 critical splice donor site probably null
R7681:Slc22a6 UTSW 19 8626129 missense probably benign 0.03
R7749:Slc22a6 UTSW 19 8621896 missense possibly damaging 0.48
Z1088:Slc22a6 UTSW 19 8621833 missense probably benign 0.03
Z1176:Slc22a6 UTSW 19 8623543 missense possibly damaging 0.80
Posted On2012-12-06