Incidental Mutation 'IGL00327:Slc22a23'
ID 4318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a23
Ensembl Gene ENSMUSG00000038267
Gene Name solute carrier family 22, member 23
Synonyms 3110004L20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL00327
Quality Score
Status
Chromosome 13
Chromosomal Location 34179158-34345182 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34305245 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 219 (D219A)
Ref Sequence ENSEMBL: ENSMUSP00000042742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040336]
AlphaFold Q3UHH2
Predicted Effect probably damaging
Transcript: ENSMUST00000040336
AA Change: D219A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: D219A

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 153 164 N/A INTRINSIC
Pfam:Sugar_tr 187 633 5e-26 PFAM
Pfam:MFS_1 224 518 2.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143353
Predicted Effect probably benign
Transcript: ENSMUST00000145038
SMART Domains Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148390
AA Change: D103A
SMART Domains Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: D103A

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
Pfam:Sugar_tr 71 510 1.4e-27 PFAM
Pfam:MFS_1 109 402 1.5e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A23 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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,300,160 L60S probably damaging Het
Aup1 A G 6: 83,056,409 E267G probably damaging Het
Bpi T C 2: 158,274,844 probably benign Het
Brinp2 A G 1: 158,247,100 Y484H probably benign Het
Colq C T 14: 31,535,588 probably null Het
Cubn T C 2: 13,427,056 D1242G possibly damaging Het
Dclre1c T A 2: 3,433,784 L95* probably null Het
Fry C T 5: 150,340,404 R171* probably null Het
Krt23 T C 11: 99,492,784 E94G probably damaging Het
Krt6b T G 15: 101,679,832 Q131P probably benign Het
Lonp1 A G 17: 56,619,265 L414P probably damaging Het
Lrit2 T A 14: 37,071,963 M328K probably benign Het
Lysmd3 C T 13: 81,665,078 L22F probably benign Het
Map3k20 A G 2: 72,412,170 D388G probably damaging Het
Mrpl44 C T 1: 79,781,004 L290F probably benign Het
Nell1 A G 7: 50,120,673 H160R probably damaging Het
Nlrc3 T C 16: 3,955,166 N109S probably damaging Het
Prpf40a T C 2: 53,150,688 T553A probably benign Het
Ptpn23 G T 9: 110,388,106 T894K probably benign Het
Scgb2b27 A G 7: 34,013,346 C24R probably damaging Het
Sipa1l3 G T 7: 29,354,133 H140N probably damaging Het
Slc9a7 T C X: 20,138,919 Y557C probably damaging Het
Slco1a1 A T 6: 141,909,125 I600N probably damaging Het
Tmx2 T C 2: 84,673,299 N190S probably benign Het
Tpr T G 1: 150,423,696 probably benign Het
Yme1l1 T C 2: 23,192,500 V501A probably benign Het
Other mutations in Slc22a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Slc22a23 APN 13 34204001 missense possibly damaging 0.71
IGL02496:Slc22a23 APN 13 34344485 missense possibly damaging 0.93
IGL02516:Slc22a23 APN 13 34203955 missense probably benign 0.02
IGL02831:Slc22a23 APN 13 34299069 missense possibly damaging 0.81
Foreshadowed UTSW 13 34195479 missense probably damaging 0.98
foretold UTSW 13 34305180 missense probably benign 0.08
BB009:Slc22a23 UTSW 13 34182977 missense probably damaging 0.99
BB019:Slc22a23 UTSW 13 34182977 missense probably damaging 0.99
R0234:Slc22a23 UTSW 13 34183261 missense probably damaging 1.00
R0234:Slc22a23 UTSW 13 34183261 missense probably damaging 1.00
R0413:Slc22a23 UTSW 13 34183132 missense probably damaging 1.00
R0557:Slc22a23 UTSW 13 34344383 missense possibly damaging 0.50
R0558:Slc22a23 UTSW 13 34344383 missense possibly damaging 0.50
R0636:Slc22a23 UTSW 13 34299093 missense probably benign 0.01
R0676:Slc22a23 UTSW 13 34195479 missense probably damaging 0.98
R0739:Slc22a23 UTSW 13 34344383 missense possibly damaging 0.50
R0990:Slc22a23 UTSW 13 34195467 missense probably damaging 1.00
R1515:Slc22a23 UTSW 13 34203964 missense probably benign 0.33
R2128:Slc22a23 UTSW 13 34203970 missense possibly damaging 0.76
R2147:Slc22a23 UTSW 13 34183007 missense probably benign 0.00
R3113:Slc22a23 UTSW 13 34183075 missense probably damaging 0.98
R3780:Slc22a23 UTSW 13 34344340 missense probably benign 0.14
R3945:Slc22a23 UTSW 13 34183126 missense probably damaging 0.98
R3946:Slc22a23 UTSW 13 34183126 missense probably damaging 0.98
R4056:Slc22a23 UTSW 13 34299004 nonsense probably null
R4095:Slc22a23 UTSW 13 34305206 missense probably damaging 1.00
R4854:Slc22a23 UTSW 13 34203941 missense probably benign
R5594:Slc22a23 UTSW 13 34305257 missense probably damaging 0.99
R5611:Slc22a23 UTSW 13 34305239 missense probably benign 0.00
R6167:Slc22a23 UTSW 13 34344559 missense probably damaging 0.97
R6927:Slc22a23 UTSW 13 34344379 missense probably benign 0.07
R6933:Slc22a23 UTSW 13 34305180 missense probably benign 0.08
R6960:Slc22a23 UTSW 13 34344157 critical splice donor site probably null
R7291:Slc22a23 UTSW 13 34197839 missense probably damaging 0.99
R7313:Slc22a23 UTSW 13 34183178 missense probably damaging 1.00
R7932:Slc22a23 UTSW 13 34182977 missense probably damaging 0.99
R8058:Slc22a23 UTSW 13 34305184 nonsense probably null
R9385:Slc22a23 UTSW 13 34344578 missense probably benign 0.05
R9560:Slc22a23 UTSW 13 34197868 missense possibly damaging 0.51
R9630:Slc22a23 UTSW 13 34195407 missense possibly damaging 0.93
X0064:Slc22a23 UTSW 13 34344466 missense probably damaging 1.00
Posted On 2012-04-20