Incidental Mutation 'R0280:Slc22a27'
ID 37483
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 038502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 7841753-7943392 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 7874187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 188 (L188*)
Ref Sequence ENSEMBL: ENSMUSP00000138475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]
AlphaFold Q76M72
Predicted Effect probably null
Transcript: ENSMUST00000075619
AA Change: L296*
SMART Domains Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: L296*

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 null
Transcript: ENSMUST00000182102
AA Change: L188*
SMART Domains Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: L188*

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:MFS_1 241 441 1.2e-11 PFAM
Meta Mutation Damage Score 0.9660 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Esr1 A G 10: 4,806,951 (GRCm39) D289G probably benign Het
Esr1 G T 10: 4,889,289 (GRCm39) V396F probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CACACGCAGTGTTCTTAATGACAGC -3'
(R):5'- TTCAGAAGTGCAGTCCATTATGTGGC -3'

Sequencing Primer
(F):5'- TGACAGCATAGTACATCTTGGGC -3'
(R):5'- GTGCAGTCCATTATGTGGCTAAATC -3'
Posted On 2013-05-23