Incidental Mutation 'R5331:Slc22a27'
ID 423289
Institutional Source Beutler Lab
Gene Symbol Slc22a27
Ensembl Gene ENSMUSG00000067656
Gene Name solute carrier family 22, member 27
Synonyms AB056442, mOAT6 related protein
MMRRC Submission 042913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5331 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 7841753-7943392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7856820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 406 (I406T)
Ref Sequence ENSEMBL: ENSMUSP00000093991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]
AlphaFold Q76M72
Predicted Effect probably benign
Transcript: ENSMUST00000075619
AA Change: I406T

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: I406T

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 benign
Transcript: ENSMUST00000182102
AA Change: I298T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: I298T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:MFS_1 241 441 1.2e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (99/99)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,615,375 (GRCm39) D83G probably benign Het
Ablim1 T C 19: 57,143,681 (GRCm39) T80A probably damaging Het
Adam6b C A 12: 113,454,200 (GRCm39) P339H possibly damaging Het
Adgrb2 A T 4: 129,915,995 (GRCm39) H1505L possibly damaging Het
Ankrd46 G A 15: 36,486,175 (GRCm39) T26I probably benign Het
Bmpr1b T C 3: 141,562,176 (GRCm39) N337S probably damaging Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cct5 A G 15: 31,594,448 (GRCm39) probably benign Het
Cdca2 T C 14: 67,914,920 (GRCm39) K780E possibly damaging Het
Cds1 T C 5: 101,946,361 (GRCm39) S187P probably damaging Het
Ces3a G A 8: 105,784,188 (GRCm39) E416K probably damaging Het
Chd8 T A 14: 52,439,571 (GRCm39) probably benign Het
Chuk A T 19: 44,067,394 (GRCm39) V587E probably damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Commd10 T C 18: 47,093,497 (GRCm39) V19A probably damaging Het
Ctsa A G 2: 164,676,229 (GRCm39) probably benign Het
Dnah6 T A 6: 73,051,573 (GRCm39) I3074F probably damaging Het
Dydc1 T C 14: 40,804,320 (GRCm39) probably null Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Elp1 T C 4: 56,800,001 (GRCm39) T42A probably benign Het
Enpp3 T A 10: 24,684,058 (GRCm39) N227I probably damaging Het
Fam131c A T 4: 141,110,141 (GRCm39) T180S probably benign Het
Fam193a C A 5: 34,622,915 (GRCm39) probably null Het
Fbxo41 T C 6: 85,456,888 (GRCm39) E427G probably benign Het
Gabrr2 A G 4: 33,082,583 (GRCm39) K236E possibly damaging Het
Gm10152 A T 7: 144,317,283 (GRCm39) noncoding transcript Het
Gm18025 C T 12: 34,340,574 (GRCm39) C173Y probably benign Het
Gm5414 C A 15: 101,533,099 (GRCm39) V443F probably damaging Het
Gm7334 T C 17: 51,006,160 (GRCm39) S149P possibly damaging Het
Gpaa1 T A 15: 76,216,511 (GRCm39) probably benign Het
Grik2 G A 10: 49,008,867 (GRCm39) T740M probably damaging Het
Gvin3 T C 7: 106,197,958 (GRCm39) noncoding transcript Het
Hdac5 T C 11: 102,088,180 (GRCm39) Y930C probably damaging Het
Hepacam2 T C 6: 3,483,377 (GRCm39) T211A probably benign Het
Herc4 G T 10: 63,143,578 (GRCm39) E703* probably null Het
Hras T C 7: 140,772,853 (GRCm39) M1V probably null Het
Il23r T G 6: 67,400,479 (GRCm39) Q617P probably damaging Het
Insc T A 7: 114,444,273 (GRCm39) M420K probably damaging Het
Ints10 A T 8: 69,273,472 (GRCm39) probably null Het
Kank1 A G 19: 25,388,693 (GRCm39) T789A probably damaging Het
Kat6a T A 8: 23,430,000 (GRCm39) L1785Q unknown Het
Kcnj12 A G 11: 60,961,012 (GRCm39) K437E probably benign Het
Knl1 T A 2: 118,900,736 (GRCm39) D812E possibly damaging Het
Luc7l C A 17: 26,494,707 (GRCm39) C104* probably null Het
Lurap1 G A 4: 116,001,601 (GRCm39) L31F probably damaging Het
Mia2 A G 12: 59,142,598 (GRCm39) S5G probably benign Het
Mon1b C T 8: 114,362,899 (GRCm39) T49I probably null Het
Mrgprb3 T C 7: 48,292,682 (GRCm39) T290A possibly damaging Het
Ms4a20 A G 19: 11,069,222 (GRCm39) probably benign Het
Mxd3 T C 13: 55,477,071 (GRCm39) probably benign Het
Negr1 A T 3: 156,774,913 (GRCm39) K210* probably null Het
Nek7 A T 1: 138,426,312 (GRCm39) probably null Het
Nktr T C 9: 121,581,834 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,111 (GRCm39) T796A probably damaging Het
Nwd2 C A 5: 63,963,859 (GRCm39) L1148I probably benign Het
Or5d46 T C 2: 88,170,332 (GRCm39) L141P probably damaging Het
Osmr G C 15: 6,872,362 (GRCm39) T244S probably damaging Het
Ovol3 T C 7: 29,932,904 (GRCm39) D177G possibly damaging Het
Pcdha4 G A 18: 37,087,755 (GRCm39) R646H probably benign Het
Pdilt T C 7: 119,114,147 (GRCm39) E117G possibly damaging Het
Pecr A G 1: 72,314,005 (GRCm39) probably benign Het
Per3 G T 4: 151,125,759 (GRCm39) L187I probably damaging Het
Plcl2 G A 17: 50,816,876 (GRCm39) A81T probably benign Het
Polr2a T C 11: 69,638,101 (GRCm39) N123D probably benign Het
Prex2 T A 1: 11,210,235 (GRCm39) D558E possibly damaging Het
Psma5 T G 3: 108,175,386 (GRCm39) V146G possibly damaging Het
Rgs11 A T 17: 26,421,947 (GRCm39) M1L probably benign Het
Rgsl1 T C 1: 153,678,038 (GRCm39) N130S probably benign Het
Rhbg T A 3: 88,152,775 (GRCm39) T313S probably benign Het
Ripply2 T A 9: 86,897,691 (GRCm39) probably benign Het
Scap T C 9: 110,210,701 (GRCm39) V1011A probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scarf1 G A 11: 75,406,406 (GRCm39) G230D probably damaging Het
Slc17a8 A G 10: 89,425,356 (GRCm39) probably null Het
Slc22a14 A T 9: 119,059,662 (GRCm39) L153Q probably damaging Het
Slc30a6 A G 17: 74,730,190 (GRCm39) D355G probably benign Het
Socs7 A G 11: 97,268,852 (GRCm39) D382G possibly damaging Het
Sphkap A G 1: 83,254,503 (GRCm39) V1082A probably benign Het
Stox2 G A 8: 47,866,662 (GRCm39) probably benign Het
Tacc2 T C 7: 130,335,258 (GRCm39) S524P probably damaging Het
Tbc1d9b C T 11: 50,037,140 (GRCm39) A263V probably benign Het
Tekt5 C T 16: 10,179,193 (GRCm39) M391I probably benign Het
Tfap2b A T 1: 19,296,722 (GRCm39) M222L probably benign Het
Themis2 T C 4: 132,510,244 (GRCm39) D652G possibly damaging Het
Tmem185b A G 1: 119,455,322 (GRCm39) probably benign Het
Trpv4 A G 5: 114,773,604 (GRCm39) Y253H probably damaging Het
Trpv5 G A 6: 41,637,266 (GRCm39) R358C probably benign Het
Ush2a G A 1: 188,460,578 (GRCm39) G2613E probably benign Het
Usp25 C A 16: 76,847,446 (GRCm39) Q185K probably damaging Het
Xkr5 G A 8: 18,983,484 (GRCm39) probably benign Het
Zfp541 C T 7: 15,829,683 (GRCm39) P1331S probably damaging Het
Other mutations in Slc22a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Slc22a27 APN 19 7,887,108 (GRCm39) missense possibly damaging 0.93
IGL02516:Slc22a27 APN 19 7,842,176 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGATAAATCCTGGGGAGGTGGC -3'
(R):5'- TCAATTTCAAACCTTGTGATACCCC -3'

Sequencing Primer
(F):5'- CCTGGGGAGGTGGCAGAAC -3'
(R):5'- AAACCTTGTGATACCCCATTTTTC -3'
Posted On 2016-08-04