Incidental Mutation 'IGL03382:Slc22a19'
ID420722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a19
Ensembl Gene ENSMUSG00000024757
Gene Namesolute carrier family 22 (organic anion transporter), member 19
SynonymsOat5, D630043A20Rik, Slc22a9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL03382
Quality Score
Status
Chromosome19
Chromosomal Location7673061-7711310 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 7681862 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 463 (I463L)
Ref Sequence ENSEMBL: ENSMUSP00000025666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025666]
Predicted Effect probably benign
Transcript: ENSMUST00000025666
AA Change: I463L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: I463L

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,717,276 G1606R probably damaging Het
Aff1 A G 5: 103,841,060 D831G possibly damaging Het
Amer2 A G 14: 60,379,882 K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 K449E probably damaging Het
Atp8b2 G A 3: 89,948,521 P459L probably benign Het
Atr C T 9: 95,920,822 R1846* probably null Het
Ccdc159 C A 9: 21,931,696 probably null Het
Ccna1 A C 3: 55,047,277 Y338D probably damaging Het
Cpq A T 15: 33,212,943 E36V probably damaging Het
Cyp2c23 A G 19: 44,014,932 I268T probably damaging Het
Dctn2 G T 10: 127,278,188 Q332H probably damaging Het
Dnah17 T A 11: 118,081,943 I2055F probably damaging Het
Dnmt3b A G 2: 153,686,359 H764R probably damaging Het
Gphn T A 12: 78,481,313 I135K probably damaging Het
Hnrnpul1 A G 7: 25,750,984 M1T probably null Het
Htra4 T C 8: 25,029,698 D406G probably benign Het
Klk10 G T 7: 43,784,459 probably benign Het
Lilrb4a T A 10: 51,491,520 W53R probably benign Het
Magel2 T C 7: 62,378,713 V455A probably benign Het
Mrgprb5 T C 7: 48,168,694 T98A probably benign Het
Mrps35 T A 6: 147,049,875 C76* probably null Het
Myh7b C T 2: 155,623,479 R701C probably damaging Het
Nbeal1 G A 1: 60,261,586 probably null Het
Neb T A 2: 52,325,708 M196L probably benign Het
Nmd3 A G 3: 69,735,088 K207R probably damaging Het
Plxna4 C T 6: 32,202,194 R962Q probably benign Het
Pom121 T C 5: 135,392,407 K230E unknown Het
Psme4 A G 11: 30,807,788 D307G possibly damaging Het
Rnf41 T G 10: 128,438,280 M267R possibly damaging Het
Sis T C 3: 72,928,719 N846D probably benign Het
Slc25a39 A T 11: 102,406,204 probably null Het
Slc35b2 C T 17: 45,566,645 R233C probably damaging Het
Slc4a4 T C 5: 89,228,836 L983P probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Tbc1d10a A G 11: 4,209,984 Y123C probably damaging Het
Thbs4 A C 13: 92,769,548 I395S probably benign Het
Triml2 A G 8: 43,193,739 T422A probably benign Het
Ubn2 T C 6: 38,440,447 probably benign Het
Vmn1r15 T A 6: 57,258,570 M141K probably benign Het
Vmn2r80 A G 10: 79,169,528 E333G probably damaging Het
Zfp169 T C 13: 48,491,163 probably benign Het
Zfp942 G A 17: 21,929,102 P182L probably benign Het
Other mutations in Slc22a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Slc22a19 APN 19 7682958 missense probably benign 0.00
IGL01126:Slc22a19 APN 19 7674283 missense possibly damaging 0.65
IGL01349:Slc22a19 APN 19 7674427 missense probably benign 0.36
IGL01409:Slc22a19 APN 19 7711130 missense probably benign 0.00
IGL01529:Slc22a19 APN 19 7682935 missense probably damaging 0.97
R0269:Slc22a19 UTSW 19 7709621 splice site probably benign
R0464:Slc22a19 UTSW 19 7682913 missense probably benign 0.44
R1866:Slc22a19 UTSW 19 7711141 missense probably damaging 1.00
R1975:Slc22a19 UTSW 19 7683859 splice site probably benign
R2184:Slc22a19 UTSW 19 7709661 missense probably benign
R2226:Slc22a19 UTSW 19 7683850 missense possibly damaging 0.92
R2894:Slc22a19 UTSW 19 7692804 missense probably benign 0.43
R4751:Slc22a19 UTSW 19 7691145 missense possibly damaging 0.65
R5016:Slc22a19 UTSW 19 7674372 missense probably benign 0.07
R5026:Slc22a19 UTSW 19 7674372 missense probably benign 0.07
R5108:Slc22a19 UTSW 19 7711171 missense probably benign
R5149:Slc22a19 UTSW 19 7711138 missense probably damaging 1.00
R5714:Slc22a19 UTSW 19 7711022 missense probably damaging 0.98
R6062:Slc22a19 UTSW 19 7674282 missense probably damaging 1.00
R6091:Slc22a19 UTSW 19 7711063 missense probably benign 0.26
R6982:Slc22a19 UTSW 19 7682969 missense probably benign 0.08
R7624:Slc22a19 UTSW 19 7673303 nonsense probably null
R7624:Slc22a19 UTSW 19 7693818 missense probably benign 0.44
R7678:Slc22a19 UTSW 19 7710937 missense possibly damaging 0.88
R7743:Slc22a19 UTSW 19 7683836 missense possibly damaging 0.74
R7770:Slc22a19 UTSW 19 7703995 splice site probably null
X0026:Slc22a19 UTSW 19 7710858 missense probably damaging 1.00
Posted On2016-08-02