Incidental Mutation 'IGL02516:Slc22a27'
ID 296762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a27
Ensembl Gene ENSMUSG00000067656
Gene Name solute carrier family 22, member 27
Synonyms AB056442, mOAT6 related protein
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02516
Quality Score
Status
Chromosome 19
Chromosomal Location 7841753-7943392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7842176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 433 (K433R)
Ref Sequence ENSEMBL: ENSMUSP00000138475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]
AlphaFold Q76M72
Predicted Effect probably benign
Transcript: ENSMUST00000075619
AA Change: K541R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: K541R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Sugar_tr 99 528 1.5e-25 PFAM
Pfam:MFS_1 140 372 1.3e-15 PFAM
Pfam:MFS_1 349 549 8.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182102
AA Change: K433R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: K433R

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:MFS_1 241 441 1.2e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 25,388,612 (GRCm39) S364N probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
App T C 16: 84,752,305 (GRCm39) T743A probably damaging Het
Armc3 A G 2: 19,305,317 (GRCm39) K692E possibly damaging Het
Arpp21 T C 9: 112,014,729 (GRCm39) N25S probably damaging Het
Avpr1b G A 1: 131,528,367 (GRCm39) V297I probably damaging Het
Bpi A G 2: 158,109,651 (GRCm39) I200V possibly damaging Het
Cacna2d4 C T 6: 119,248,831 (GRCm39) probably benign Het
Cbarp A G 10: 79,971,379 (GRCm39) Y149H probably damaging Het
Ccdc85c T C 12: 108,241,160 (GRCm39) N78S unknown Het
Cdcp1 G T 9: 123,002,702 (GRCm39) L790M possibly damaging Het
Cdkn2d T A 9: 21,200,439 (GRCm39) I111F probably benign Het
Ctsr A G 13: 61,310,992 (GRCm39) V18A probably benign Het
Dapk1 A G 13: 60,844,161 (GRCm39) D60G probably damaging Het
Daw1 A C 1: 83,186,949 (GRCm39) N253T probably benign Het
Dcaf7 T A 11: 105,942,698 (GRCm39) I215N probably damaging Het
Ddc A C 11: 11,779,125 (GRCm39) L333R probably damaging Het
Dennd1a A G 2: 37,742,406 (GRCm39) probably null Het
Dnah10 C A 5: 124,864,395 (GRCm39) T2200K probably damaging Het
Dock6 T C 9: 21,713,881 (GRCm39) Y1883C probably damaging Het
Ecpas T C 4: 58,877,102 (GRCm39) E111G probably damaging Het
Eif2ak4 T A 2: 118,266,735 (GRCm39) I752N probably damaging Het
Fcho2 A G 13: 98,866,720 (GRCm39) I740T probably benign Het
Flnc A G 6: 29,450,840 (GRCm39) D1496G probably damaging Het
Fn1 A G 1: 71,676,482 (GRCm39) V583A possibly damaging Het
Greb1l A C 18: 10,537,064 (GRCm39) T1010P probably benign Het
Hs3st6 T C 17: 24,977,105 (GRCm39) L195P probably damaging Het
Hyi A G 4: 118,219,680 (GRCm39) E239G probably damaging Het
Ighv2-3 G T 12: 113,574,818 (GRCm39) Y112* probably null Het
Ints3 A G 3: 90,310,415 (GRCm39) F495S probably damaging Het
Itih2 T A 2: 10,102,728 (GRCm39) H802L probably benign Het
Jag2 C T 12: 112,874,186 (GRCm39) V990M probably damaging Het
Kat6b T C 14: 21,659,936 (GRCm39) probably benign Het
Krtap4-8 C T 11: 99,671,168 (GRCm39) probably benign Het
Lhx4 A G 1: 155,578,003 (GRCm39) S380P probably damaging Het
Morn3 C A 5: 123,175,363 (GRCm39) E33* probably null Het
Mug2 C T 6: 122,047,802 (GRCm39) A771V probably damaging Het
N4bp3 A T 11: 51,535,161 (GRCm39) S343T probably benign Het
Nlrp1a T C 11: 71,005,286 (GRCm39) N643S probably damaging Het
Or2c1 A C 16: 3,657,200 (GRCm39) D121A probably damaging Het
Or2h1b T A 17: 37,462,163 (GRCm39) R79S possibly damaging Het
Or6c8 T A 10: 128,915,662 (GRCm39) M57L possibly damaging Het
Phc3 A G 3: 31,002,942 (GRCm39) F192S probably damaging Het
Pigq C T 17: 26,156,221 (GRCm39) R69H probably benign Het
Plk3 A G 4: 116,989,186 (GRCm39) C222R probably damaging Het
Pomt2 T C 12: 87,166,420 (GRCm39) T490A probably benign Het
Prss29 T C 17: 25,539,875 (GRCm39) I91T probably damaging Het
Ralgapb A T 2: 158,307,735 (GRCm39) probably benign Het
Sccpdh G A 1: 179,509,256 (GRCm39) G75D probably damaging Het
Serpine2 T C 1: 79,772,714 (GRCm39) probably benign Het
Sfr1 T G 19: 47,721,429 (GRCm39) probably null Het
Slc22a23 C A 13: 34,387,938 (GRCm39) C386F probably benign Het
Slc39a12 T C 2: 14,405,146 (GRCm39) L246P probably damaging Het
Slc4a11 A G 2: 130,533,313 (GRCm39) I191T possibly damaging Het
Slc9c1 A G 16: 45,398,238 (GRCm39) N668D probably damaging Het
Supt16 A T 14: 52,421,421 (GRCm39) D41E possibly damaging Het
Tamalin G A 15: 101,126,932 (GRCm39) V137I probably damaging Het
Ugt2b37 A G 5: 87,388,741 (GRCm39) S491P probably damaging Het
Urb1 G T 16: 90,569,583 (GRCm39) T1381N possibly damaging Het
Usp8 A G 2: 126,584,094 (GRCm39) I423M probably benign Het
Vmn1r191 T A 13: 22,363,710 (GRCm39) I15F probably benign Het
Zbtb5 A T 4: 44,993,798 (GRCm39) Y529N probably damaging Het
Zfp541 T A 7: 15,816,918 (GRCm39) probably null Het
Other mutations in Slc22a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Slc22a27 APN 19 7,887,108 (GRCm39) missense possibly damaging 0.93
IGL02961:Slc22a27 APN 19 7,903,886 (GRCm39) missense probably damaging 0.99
IGL03008:Slc22a27 APN 19 7,887,067 (GRCm39) missense possibly damaging 0.92
PIT4544001:Slc22a27 UTSW 19 7,887,103 (GRCm39) missense probably damaging 1.00
R0172:Slc22a27 UTSW 19 7,843,201 (GRCm39) nonsense probably null
R0234:Slc22a27 UTSW 19 7,904,156 (GRCm39) start gained probably benign
R0234:Slc22a27 UTSW 19 7,904,156 (GRCm39) start gained probably benign
R0280:Slc22a27 UTSW 19 7,874,187 (GRCm39) nonsense probably null
R0561:Slc22a27 UTSW 19 7,857,527 (GRCm39) critical splice donor site probably null
R0597:Slc22a27 UTSW 19 7,843,249 (GRCm39) missense probably benign 0.00
R1005:Slc22a27 UTSW 19 7,904,116 (GRCm39) missense probably damaging 1.00
R1165:Slc22a27 UTSW 19 7,887,059 (GRCm39) splice site probably null
R1217:Slc22a27 UTSW 19 7,904,033 (GRCm39) missense probably benign 0.01
R1533:Slc22a27 UTSW 19 7,844,348 (GRCm39) missense possibly damaging 0.79
R1940:Slc22a27 UTSW 19 7,887,092 (GRCm39) missense probably damaging 1.00
R3714:Slc22a27 UTSW 19 7,903,815 (GRCm39) missense possibly damaging 0.75
R3959:Slc22a27 UTSW 19 7,887,414 (GRCm39) missense probably damaging 1.00
R4059:Slc22a27 UTSW 19 7,856,973 (GRCm39) splice site probably benign
R4249:Slc22a27 UTSW 19 7,903,244 (GRCm39) missense possibly damaging 0.64
R4748:Slc22a27 UTSW 19 7,903,241 (GRCm39) missense probably benign
R5220:Slc22a27 UTSW 19 7,843,303 (GRCm39) missense probably damaging 0.96
R5221:Slc22a27 UTSW 19 7,843,303 (GRCm39) missense probably damaging 0.96
R5232:Slc22a27 UTSW 19 7,843,303 (GRCm39) missense probably damaging 0.96
R5330:Slc22a27 UTSW 19 7,856,820 (GRCm39) missense probably benign 0.13
R5331:Slc22a27 UTSW 19 7,856,820 (GRCm39) missense probably benign 0.13
R5345:Slc22a27 UTSW 19 7,843,303 (GRCm39) missense probably damaging 0.96
R5427:Slc22a27 UTSW 19 7,856,753 (GRCm39) critical splice donor site probably null
R5534:Slc22a27 UTSW 19 7,903,996 (GRCm39) missense probably damaging 1.00
R5691:Slc22a27 UTSW 19 7,904,035 (GRCm39) missense possibly damaging 0.90
R5828:Slc22a27 UTSW 19 7,903,767 (GRCm39) missense probably damaging 1.00
R5878:Slc22a27 UTSW 19 7,904,122 (GRCm39) missense probably benign 0.01
R5918:Slc22a27 UTSW 19 7,887,411 (GRCm39) missense possibly damaging 0.91
R6185:Slc22a27 UTSW 19 7,903,953 (GRCm39) missense probably benign 0.14
R6901:Slc22a27 UTSW 19 7,903,944 (GRCm39) missense probably damaging 1.00
R7139:Slc22a27 UTSW 19 7,903,912 (GRCm39) missense probably damaging 1.00
R7336:Slc22a27 UTSW 19 7,904,054 (GRCm39) missense probably benign 0.02
R7502:Slc22a27 UTSW 19 7,903,747 (GRCm39) missense probably damaging 1.00
R7556:Slc22a27 UTSW 19 7,843,119 (GRCm39) missense probably damaging 0.98
R7737:Slc22a27 UTSW 19 7,874,127 (GRCm39) missense probably damaging 0.99
R7860:Slc22a27 UTSW 19 7,887,472 (GRCm39) critical splice acceptor site probably null
R8050:Slc22a27 UTSW 19 7,857,532 (GRCm39) missense probably benign 0.18
R8090:Slc22a27 UTSW 19 7,843,101 (GRCm39) splice site probably null
R8150:Slc22a27 UTSW 19 7,887,390 (GRCm39) missense possibly damaging 0.87
R8974:Slc22a27 UTSW 19 7,903,751 (GRCm39) missense probably damaging 1.00
R9246:Slc22a27 UTSW 19 7,874,209 (GRCm39) missense probably benign 0.36
R9425:Slc22a27 UTSW 19 7,874,156 (GRCm39) missense probably damaging 1.00
R9520:Slc22a27 UTSW 19 7,843,227 (GRCm39) missense possibly damaging 0.94
R9731:Slc22a27 UTSW 19 7,904,126 (GRCm39) nonsense probably null
RF012:Slc22a27 UTSW 19 7,903,949 (GRCm39) missense probably benign 0.07
Z1177:Slc22a27 UTSW 19 7,887,095 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16