Incidental Mutation 'IGL02813:Slc22a20'
ID360677
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? Possibly non essential (E-score: 0.257) question?
Stock #IGL02813
Quality Score
Status
Chromosome19
Chromosomal Location5970234-5986143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5984858 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 192 (V192I)
Ref Sequence ENSEMBL: ENSMUSP00000049473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025891] [ENSMUST00000041827] [ENSMUST00000164843]
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 benign
Transcript: ENSMUST00000041827
AA Change: V192I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: V192I

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,146,591 Q660K possibly damaging Het
Arhgap5 A C 12: 52,516,965 T240P probably benign Het
Arhgef7 C T 8: 11,800,767 probably benign Het
Cttnbp2 C A 6: 18,367,538 V1594F possibly damaging Het
Cyp2a22 G T 7: 26,936,434 Q235K probably benign Het
E330009J07Rik C T 6: 40,418,539 V212I probably benign Het
Ecm1 G A 3: 95,736,786 P169S probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Ern1 T C 11: 106,423,425 D183G probably damaging Het
Gpat2 T C 2: 127,434,455 V635A possibly damaging Het
Gria1 A G 11: 57,283,584 N564S probably damaging Het
Grtp1 A C 8: 13,186,945 I173S possibly damaging Het
Hsd17b4 A G 18: 50,128,348 probably benign Het
Lrp1b T C 2: 40,679,217 probably null Het
Mark4 A T 7: 19,447,256 probably null Het
Mphosph9 T C 5: 124,315,628 D207G probably benign Het
Mrgprd A G 7: 145,321,514 M41V probably benign Het
Myo1g T C 11: 6,518,743 *66W probably null Het
Neto2 C A 8: 85,690,886 D30Y probably benign Het
Nlrp6 A T 7: 140,923,420 I450F possibly damaging Het
Nup155 T A 15: 8,130,121 probably benign Het
Olfr1205 A G 2: 88,831,151 I11M probably benign Het
Pcdhb10 T G 18: 37,413,762 S630R possibly damaging Het
Rwdd4a T C 8: 47,537,361 probably null Het
Slc12a7 T A 13: 73,813,676 probably benign Het
Slc9a2 T A 1: 40,742,669 S353T probably damaging Het
Srgap3 A G 6: 112,731,480 F753L probably damaging Het
Tcea1 C T 1: 4,886,756 T93I probably benign Het
Tctex1d1 A G 4: 102,992,572 N64S probably damaging Het
Tecpr2 A T 12: 110,933,192 S665C probably damaging Het
Tor4a C A 2: 25,194,749 E381* probably null Het
Vdr A G 15: 97,869,681 Y143H probably benign Het
Vmn2r91 A C 17: 18,136,086 T672P possibly damaging Het
Wdr41 A G 13: 94,995,245 probably null Het
Other mutations in Slc22a20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Slc22a20 APN 19 5970516 missense probably benign 0.13
IGL02745:Slc22a20 APN 19 5972873 missense probably damaging 1.00
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
R8055:Slc22a20 UTSW 19 5971411 missense probably benign 0.02
Posted On2015-12-18