Incidental Mutation 'IGL01126:Slc22a19'
ID53280
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: 0.055) question?
Stock #IGL01126
Quality Score
Status
Chromosome19
Chromosomal Location7673061-7711310 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7674283 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 520 (N520D)
Ref Sequence ENSEMBL: ENSMUSP00000025666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025666]
AlphaFold Q8VCA0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025666
AA Change: N520D

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: N520D

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Aldh9a1 C T 1: 167,364,574 T425I probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Dnah5 T G 15: 28,302,399 F1601V possibly damaging Het
Dock7 A G 4: 98,973,552 probably benign Het
Dync2h1 T C 9: 7,116,588 I83V probably benign Het
Fbxw17 A G 13: 50,423,300 E76G possibly damaging Het
Map3k19 T A 1: 127,824,331 K428* probably null Het
Phkb T C 8: 85,946,101 M365T probably benign Het
Phyhip A G 14: 70,463,357 S95G probably benign Het
Pla1a T C 16: 38,407,639 D292G probably benign Het
Prkdc T A 16: 15,669,321 V496D probably benign Het
Rasal3 T C 17: 32,397,405 T271A possibly damaging Het
Sugp2 T C 8: 70,251,874 L687P probably damaging Het
Ttn A T 2: 76,707,246 H34779Q probably benign Het
Txlna A G 4: 129,634,365 probably benign Het
Ubr4 T A 4: 139,402,555 M662K probably benign Het
Ugt1a10 C A 1: 88,055,987 A169E possibly damaging Het
Other mutations in Slc22a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Slc22a19 APN 19 7682958 missense probably benign 0.00
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
IGL03382:Slc22a19 APN 19 7681862 missense probably benign 0.01
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
R8769:Slc22a19 UTSW 19 7692721 missense possibly damaging 0.89
R8861:Slc22a19 UTSW 19 7682959 missense possibly damaging 0.55
X0026:Slc22a19 UTSW 19 7710858 missense probably damaging 1.00
Posted On2013-06-21