Incidental Mutation 'R5621:Slc22a22'
ID 441579
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 043279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57107163-57341021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57122547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 143 (F143L)
Ref Sequence ENSEMBL: ENSMUSP00000105825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196] [ENSMUST00000137764]
AlphaFold Q8R0S9
Predicted Effect probably benign
Transcript: ENSMUST00000022995
AA Change: F143L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: F143L

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 benign
Transcript: ENSMUST00000110196
AA Change: F143L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: F143L

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
Predicted Effect probably benign
Transcript: ENSMUST00000137764
AA Change: F124L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: F124L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably 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
R3707:Slc22a22 UTSW 15 57,114,369 (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
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'- GGAAGCCTATCACATTGATTTCTG -3'
(R):5'- CTTACCTAGGATGCAGTAATTGTTAAC -3'

Sequencing Primer
(F):5'- ATGTATATTGTATACCCTCTACCCAG -3'
(R):5'- CTCTAGATTTACTTGAGGTCTC -3'
Posted On 2016-11-08