Incidental Mutation 'R3707:Slc22a22'
ID 258766
Institutional Source Beutler Lab
Gene Symbol Slc22a22
Ensembl Gene ENSMUSG00000022366
Gene Name solute carrier family 22 (organic cation transporter), member 22
Synonyms OAT-PG, BC026439
MMRRC Submission 040700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R3707 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57107163-57341021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57114369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 319 (L319F)
Ref Sequence ENSEMBL: ENSMUSP00000105825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196]
AlphaFold Q8R0S9
Predicted Effect probably damaging
Transcript: ENSMUST00000022995
AA Change: L319F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: L319F

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:MFS_1 117 483 1.2e-26 PFAM
Pfam:Sugar_tr 144 447 1.3e-20 PFAM
Pfam:Sugar_tr 393 553 3.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110196
AA Change: L319F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: L319F

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:MFS_1 116 483 1.4e-26 PFAM
Pfam:Sugar_tr 145 426 1e-19 PFAM
Pfam:Sugar_tr 391 553 2.7e-8 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Avpr1a T A 10: 122,285,014 (GRCm39) F102Y probably damaging Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Chrng C T 1: 87,138,333 (GRCm39) Q375* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Dennd6a T C 14: 26,313,546 (GRCm39) probably benign Het
Eef2k C A 7: 120,483,935 (GRCm39) L224I probably damaging Het
Gm10033 G C 8: 69,825,068 (GRCm39) noncoding transcript Het
Gm11545 T C 11: 94,648,385 (GRCm39) noncoding transcript Het
Herpud1 T A 8: 95,118,867 (GRCm39) V207D probably damaging Het
Hmbox1 T C 14: 65,134,285 (GRCm39) Y105C probably benign Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lgr4 T C 2: 109,801,099 (GRCm39) L83P probably damaging Het
Lrch1 C T 14: 75,095,437 (GRCm39) M134I probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mtg1 A T 7: 139,729,717 (GRCm39) K269M probably damaging Het
Nkain3 A T 4: 20,484,920 (GRCm39) F52L possibly damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Or12e10 T C 2: 87,640,520 (GRCm39) C119R probably damaging Het
Or6c8 T A 10: 128,915,254 (GRCm39) I193F probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pdhb T C 14: 8,170,409 (GRCm38) N114S probably damaging Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pimreg G A 11: 71,937,158 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Resf1 C T 6: 149,230,611 (GRCm39) S1219L probably damaging Het
Rif1 T A 2: 51,983,592 (GRCm39) D578E probably damaging Het
Rrbp1 G T 2: 143,795,197 (GRCm39) A1269E probably benign Het
Rufy3 G A 5: 88,790,891 (GRCm39) A531T probably benign Het
Tapbpl A G 6: 125,201,658 (GRCm39) probably null Het
Tdrd1 T C 19: 56,854,425 (GRCm39) S1124P possibly damaging Het
Top2a T C 11: 98,887,651 (GRCm39) K1286E probably benign Het
Top2b T C 14: 16,388,447 (GRCm38) V188A probably damaging Het
Vmn2r4 A T 3: 64,296,895 (GRCm39) I630N probably damaging Het
Vmn2r53 T C 7: 12,315,981 (GRCm39) T613A possibly damaging Het
Zbtb40 A G 4: 136,726,879 (GRCm39) Y486H probably damaging Het
Zfp715 T C 7: 42,960,553 (GRCm39) T13A probably benign Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging Het
Other mutations in Slc22a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Slc22a22 APN 15 57,117,674 (GRCm39) missense probably damaging 1.00
IGL01140:Slc22a22 APN 15 57,126,734 (GRCm39) missense probably damaging 1.00
IGL02350:Slc22a22 APN 15 57,110,844 (GRCm39) missense probably benign 0.16
IGL02357:Slc22a22 APN 15 57,110,844 (GRCm39) missense probably benign 0.16
IGL03115:Slc22a22 APN 15 57,126,670 (GRCm39) missense probably damaging 1.00
IGL03244:Slc22a22 APN 15 57,112,948 (GRCm39) splice site probably benign
IGL03384:Slc22a22 APN 15 57,117,612 (GRCm39) missense probably benign 0.01
R0371:Slc22a22 UTSW 15 57,113,131 (GRCm39) missense possibly damaging 0.82
R0501:Slc22a22 UTSW 15 57,113,046 (GRCm39) missense probably benign 0.16
R0684:Slc22a22 UTSW 15 57,126,758 (GRCm39) missense probably benign 0.04
R0722:Slc22a22 UTSW 15 57,119,949 (GRCm39) splice site probably null
R1240:Slc22a22 UTSW 15 57,114,268 (GRCm39) missense probably benign 0.02
R1472:Slc22a22 UTSW 15 57,110,916 (GRCm39) missense probably benign 0.03
R2040:Slc22a22 UTSW 15 57,110,936 (GRCm39) nonsense probably null
R2125:Slc22a22 UTSW 15 57,117,636 (GRCm39) missense probably damaging 1.00
R3921:Slc22a22 UTSW 15 57,119,940 (GRCm39) missense probably benign 0.07
R4184:Slc22a22 UTSW 15 57,119,962 (GRCm39) nonsense probably null
R4561:Slc22a22 UTSW 15 57,126,781 (GRCm39) missense probably damaging 1.00
R4626:Slc22a22 UTSW 15 57,126,734 (GRCm39) missense probably damaging 1.00
R4887:Slc22a22 UTSW 15 57,113,148 (GRCm39) missense probably benign 0.20
R5181:Slc22a22 UTSW 15 57,118,519 (GRCm39) missense probably benign 0.08
R5486:Slc22a22 UTSW 15 57,126,847 (GRCm39) missense probably damaging 0.97
R5621:Slc22a22 UTSW 15 57,122,547 (GRCm39) missense probably benign 0.02
R5812:Slc22a22 UTSW 15 57,119,869 (GRCm39) critical splice donor site probably null
R5958:Slc22a22 UTSW 15 57,126,932 (GRCm39) missense possibly damaging 0.95
R6517:Slc22a22 UTSW 15 57,114,365 (GRCm39) missense probably benign 0.28
R6555:Slc22a22 UTSW 15 57,122,527 (GRCm39) missense probably benign 0.08
R6724:Slc22a22 UTSW 15 57,110,928 (GRCm39) missense probably damaging 1.00
R6744:Slc22a22 UTSW 15 57,117,668 (GRCm39) missense possibly damaging 0.46
R7078:Slc22a22 UTSW 15 57,126,876 (GRCm39) missense probably benign 0.01
R7085:Slc22a22 UTSW 15 57,113,045 (GRCm39) missense probably benign 0.00
R7263:Slc22a22 UTSW 15 57,113,107 (GRCm39) missense probably benign
R7335:Slc22a22 UTSW 15 57,126,771 (GRCm39) missense probably benign 0.19
R7859:Slc22a22 UTSW 15 57,114,348 (GRCm39) missense probably benign 0.02
R7871:Slc22a22 UTSW 15 57,126,751 (GRCm39) missense possibly damaging 0.86
R8297:Slc22a22 UTSW 15 57,122,506 (GRCm39) missense probably damaging 1.00
R8340:Slc22a22 UTSW 15 57,127,086 (GRCm39) critical splice acceptor site probably null
R8358:Slc22a22 UTSW 15 57,108,243 (GRCm39) missense probably damaging 1.00
R8811:Slc22a22 UTSW 15 57,108,237 (GRCm39) missense probably damaging 1.00
R9461:Slc22a22 UTSW 15 57,127,052 (GRCm39) missense probably damaging 0.99
R9461:Slc22a22 UTSW 15 57,108,342 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGCTTAGCACGATGATGAC -3'
(R):5'- GACCTTGTCAGATTAGTGTGCTC -3'

Sequencing Primer
(F):5'- CGTAGTTGACTATATGACAGTGAAG -3'
(R):5'- ATGGGAGTCAGTTCTAGACTTACC -3'
Posted On 2015-01-23