Incidental Mutation 'IGL01137:Slc22a22'
ID 52851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a22
Ensembl Gene ENSMUSG00000022366
Gene Name solute carrier family 22 (organic cation transporter), member 22
Synonyms OAT-PG, BC026439
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01137
Quality Score
Status
Chromosome 15
Chromosomal Location 57107163-57341021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57117674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 289 (G289V)
Ref Sequence ENSEMBL: ENSMUSP00000105825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196] [ENSMUST00000137764]
AlphaFold Q8R0S9
Predicted Effect probably damaging
Transcript: ENSMUST00000022995
AA Change: G289V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: G289V

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: G289V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: G289V

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
SMART Domains Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,292,492 (GRCm39) probably null Het
Ankrd11 T C 8: 123,611,075 (GRCm39) T2583A probably damaging Het
Anxa7 G A 14: 20,506,648 (GRCm39) Q431* probably null Het
Asb15 T A 6: 24,556,521 (GRCm39) D5E probably benign Het
Bex1 C A X: 135,115,243 (GRCm39) D29Y probably damaging Het
Cadm2 G A 16: 66,612,238 (GRCm39) T108I probably damaging Het
Cecr2 T G 6: 120,738,989 (GRCm39) L1211V probably damaging Het
Cntn2 T C 1: 132,449,035 (GRCm39) probably benign Het
Ctrc C A 4: 141,566,065 (GRCm39) V198L possibly damaging Het
Cyp2g1 A G 7: 26,513,684 (GRCm39) S208G possibly damaging Het
Ddx46 T A 13: 55,817,530 (GRCm39) Y718* probably null Het
Dlec1 T C 9: 118,966,379 (GRCm39) I1116T probably damaging Het
Dnajc13 A G 9: 104,037,689 (GRCm39) Y2177H probably benign Het
Dpp6 T C 5: 27,919,486 (GRCm39) F661S probably damaging Het
Dpy19l2 G A 9: 24,569,858 (GRCm39) T365I possibly damaging Het
Flot2 T C 11: 77,940,333 (GRCm39) Y27H probably damaging Het
Gsta4 T C 9: 78,113,204 (GRCm39) Y95H possibly damaging Het
Kir3dl1 A G X: 135,427,360 (GRCm39) T192A probably damaging Het
Llgl1 T A 11: 60,600,825 (GRCm39) N640K probably benign Het
Lrch1 C T 14: 74,994,532 (GRCm39) V691M probably damaging Het
Myh9 T C 15: 77,653,742 (GRCm39) D1302G probably benign Het
Myo18a T G 11: 77,718,655 (GRCm39) F935V probably damaging Het
Mypn T C 10: 62,988,633 (GRCm39) E464G probably benign Het
Or52l1 A G 7: 104,829,695 (GRCm39) V290A probably benign Het
Or5ac25 A C 16: 59,182,335 (GRCm39) M82R probably benign Het
Or5b101 A T 19: 13,005,394 (GRCm39) F100I possibly damaging Het
Or8k38 A T 2: 86,488,055 (GRCm39) I249N possibly damaging Het
R3hdm1 C T 1: 128,109,612 (GRCm39) R39C probably damaging Het
Rps3a3 A T 13: 108,807,666 (GRCm39) probably benign Het
Sec24b C T 3: 129,801,093 (GRCm39) S401N probably benign Het
Stk33 T C 7: 108,928,775 (GRCm39) I246V probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Timmdc1 A T 16: 38,338,747 (GRCm39) H114Q probably benign Het
Tlcd2 T C 11: 75,360,337 (GRCm39) Y127H probably damaging Het
Tnfrsf11a G A 1: 105,737,147 (GRCm39) D85N possibly damaging Het
Trbc2 T C 6: 41,524,751 (GRCm39) probably benign Het
Unc13b G A 4: 43,091,291 (GRCm39) R39H probably damaging Het
Vwa8 T C 14: 79,341,087 (GRCm39) L1521P probably damaging Het
Zbtb17 T A 4: 141,193,678 (GRCm39) C607* probably null Het
Other mutations in Slc22a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21