Incidental Mutation 'IGL01409:Slc22a19'
ID 79905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a19
Ensembl Gene ENSMUSG00000024757
Gene Name solute carrier family 22 (organic anion transporter), member 19
Synonyms Slc22a9, Oat5, D630043A20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01409
Quality Score
Status
Chromosome 19
Chromosomal Location 7650440-7688675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7688495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 22 (I22V)
Ref Sequence ENSEMBL: ENSMUSP00000025666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025666]
AlphaFold Q8VCA0
Predicted Effect probably benign
Transcript: ENSMUST00000025666
AA Change: I22V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: I22V

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Sugar_tr 103 528 6.3e-22 PFAM
Pfam:MFS_1 122 378 2.4e-20 PFAM
Pfam:MFS_1 377 549 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141771
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 C T 10: 85,494,029 (GRCm39) A1049V possibly damaging Het
Arhgap26 C T 18: 39,243,504 (GRCm39) probably benign Het
Asxl1 T C 2: 153,234,860 (GRCm39) probably benign Het
Atm A T 9: 53,410,471 (GRCm39) V1037E probably benign Het
Bmp6 A G 13: 38,669,865 (GRCm39) N383S probably damaging Het
Btf3l4 A C 4: 108,676,394 (GRCm39) S103R probably damaging Het
Cadps2 T C 6: 23,587,440 (GRCm39) D321G probably damaging Het
Col24a1 G A 3: 145,244,319 (GRCm39) S1531N probably benign Het
Cpb1 T A 3: 20,303,969 (GRCm39) Y365F possibly damaging Het
Dpp6 T C 5: 27,762,599 (GRCm39) Y238H probably damaging Het
Epha6 G A 16: 59,476,100 (GRCm39) R1089* probably null Het
Fga T C 3: 82,940,059 (GRCm39) F571S probably damaging Het
Focad A G 4: 88,260,542 (GRCm39) T933A unknown Het
Gm57858 T A 3: 36,080,077 (GRCm39) M227L possibly damaging Het
Gria2 A G 3: 80,615,004 (GRCm39) probably null Het
Hnrnpul1 T C 7: 25,424,077 (GRCm39) N725S unknown Het
Ik A T 18: 36,889,974 (GRCm39) K534N probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnip1 G T 11: 33,580,593 (GRCm39) D214E probably benign Het
Kcnk10 A T 12: 98,456,322 (GRCm39) Y170N probably damaging Het
Lalba A G 15: 98,379,948 (GRCm39) probably null Het
Ly75 A T 2: 60,152,036 (GRCm39) probably null Het
Myh10 T C 11: 68,698,045 (GRCm39) L1629P probably damaging Het
Myo15b C A 11: 115,760,330 (GRCm39) C1127* probably null Het
Neurl4 T G 11: 69,797,925 (GRCm39) N728K probably damaging Het
Nrxn3 T A 12: 89,477,128 (GRCm39) F801Y probably damaging Het
Nup214 G T 2: 31,916,943 (GRCm39) probably null Het
Obscn G A 11: 58,921,884 (GRCm39) R6624C probably damaging Het
Or2g1 T C 17: 38,106,413 (GRCm39) F26S probably damaging Het
Pdk1 A G 2: 71,726,123 (GRCm39) T344A probably benign Het
Pitx2 C A 3: 129,008,413 (GRCm39) S63Y probably damaging Het
Ppara A C 15: 85,661,844 (GRCm39) L28F probably damaging Het
Rad54l G A 4: 115,963,074 (GRCm39) T308I probably damaging Het
Sbds T C 5: 130,282,907 (GRCm39) E7G probably damaging Het
Slfn10-ps T C 11: 82,926,322 (GRCm39) noncoding transcript Het
Spag4 T C 2: 155,911,252 (GRCm39) S396P possibly damaging Het
Spef2 C A 15: 9,716,499 (GRCm39) L362F probably damaging Het
Srebf2 A G 15: 82,055,419 (GRCm39) T208A probably damaging Het
Ssc5d A G 7: 4,945,808 (GRCm39) T947A probably benign Het
Tdp1 T C 12: 99,875,940 (GRCm39) I297T possibly damaging Het
Tent5c A T 3: 100,380,485 (GRCm39) D90E probably damaging Het
Tsen2 T C 6: 115,536,555 (GRCm39) Y104H possibly damaging Het
Was G A X: 7,954,055 (GRCm39) R229C probably damaging Het
Other mutations in Slc22a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Slc22a19 APN 19 7,660,323 (GRCm39) missense probably benign 0.00
IGL01126:Slc22a19 APN 19 7,651,648 (GRCm39) missense possibly damaging 0.65
IGL01349:Slc22a19 APN 19 7,651,792 (GRCm39) missense probably benign 0.36
IGL01529:Slc22a19 APN 19 7,660,300 (GRCm39) missense probably damaging 0.97
IGL03382:Slc22a19 APN 19 7,659,227 (GRCm39) missense probably benign 0.01
R0269:Slc22a19 UTSW 19 7,686,986 (GRCm39) splice site probably benign
R0464:Slc22a19 UTSW 19 7,660,278 (GRCm39) missense probably benign 0.44
R1866:Slc22a19 UTSW 19 7,688,506 (GRCm39) missense probably damaging 1.00
R1975:Slc22a19 UTSW 19 7,661,224 (GRCm39) splice site probably benign
R2184:Slc22a19 UTSW 19 7,687,026 (GRCm39) missense probably benign
R2226:Slc22a19 UTSW 19 7,661,215 (GRCm39) missense possibly damaging 0.92
R2894:Slc22a19 UTSW 19 7,670,169 (GRCm39) missense probably benign 0.43
R4751:Slc22a19 UTSW 19 7,668,510 (GRCm39) missense possibly damaging 0.65
R5016:Slc22a19 UTSW 19 7,651,737 (GRCm39) missense probably benign 0.07
R5026:Slc22a19 UTSW 19 7,651,737 (GRCm39) missense probably benign 0.07
R5108:Slc22a19 UTSW 19 7,688,536 (GRCm39) missense probably benign
R5149:Slc22a19 UTSW 19 7,688,503 (GRCm39) missense probably damaging 1.00
R5714:Slc22a19 UTSW 19 7,688,387 (GRCm39) missense probably damaging 0.98
R6062:Slc22a19 UTSW 19 7,651,647 (GRCm39) missense probably damaging 1.00
R6091:Slc22a19 UTSW 19 7,688,428 (GRCm39) missense probably benign 0.26
R6982:Slc22a19 UTSW 19 7,660,334 (GRCm39) missense probably benign 0.08
R7624:Slc22a19 UTSW 19 7,671,183 (GRCm39) missense probably benign 0.44
R7624:Slc22a19 UTSW 19 7,650,668 (GRCm39) nonsense probably null
R7678:Slc22a19 UTSW 19 7,688,302 (GRCm39) missense possibly damaging 0.88
R7743:Slc22a19 UTSW 19 7,661,201 (GRCm39) missense possibly damaging 0.74
R7770:Slc22a19 UTSW 19 7,681,360 (GRCm39) splice site probably null
R8769:Slc22a19 UTSW 19 7,670,086 (GRCm39) missense possibly damaging 0.89
R8861:Slc22a19 UTSW 19 7,660,324 (GRCm39) missense possibly damaging 0.55
R9418:Slc22a19 UTSW 19 7,660,210 (GRCm39) missense possibly damaging 0.65
R9548:Slc22a19 UTSW 19 7,659,219 (GRCm39) critical splice donor site probably null
R9742:Slc22a19 UTSW 19 7,688,281 (GRCm39) missense probably benign 0.00
X0026:Slc22a19 UTSW 19 7,688,223 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05