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: 0.174) question?
Stock # IGL00327
Quality Score
Status
Chromosome 13
Chromosomal Location 34363141-34529165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34489228 bp (GRCm39)
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: 100,949,367 (GRCm39) L60S probably damaging Het
Aup1 A G 6: 83,033,390 (GRCm39) E267G probably damaging Het
Bpi T C 2: 158,116,764 (GRCm39) probably benign Het
Brinp2 A G 1: 158,074,670 (GRCm39) Y484H probably benign Het
Colq C T 14: 31,257,545 (GRCm39) probably null Het
Cubn T C 2: 13,431,867 (GRCm39) D1242G possibly damaging Het
Dclre1c T A 2: 3,434,821 (GRCm39) L95* probably null Het
Fry C T 5: 150,263,869 (GRCm39) R171* probably null Het
Krt23 T C 11: 99,383,610 (GRCm39) E94G probably damaging Het
Krt6b T G 15: 101,588,267 (GRCm39) Q131P probably benign Het
Lonp1 A G 17: 56,926,265 (GRCm39) L414P probably damaging Het
Lrit2 T A 14: 36,793,920 (GRCm39) M328K probably benign Het
Lysmd3 C T 13: 81,813,197 (GRCm39) L22F probably benign Het
Map3k20 A G 2: 72,242,514 (GRCm39) D388G probably damaging Het
Mrpl44 C T 1: 79,758,721 (GRCm39) L290F probably benign Het
Nell1 A G 7: 49,770,421 (GRCm39) H160R probably damaging Het
Nlrc3 T C 16: 3,773,030 (GRCm39) N109S probably damaging Het
Prpf40a T C 2: 53,040,700 (GRCm39) T553A probably benign Het
Ptpn23 G T 9: 110,217,174 (GRCm39) T894K probably benign Het
Scgb2b27 A G 7: 33,712,771 (GRCm39) C24R probably damaging Het
Sipa1l3 G T 7: 29,053,558 (GRCm39) H140N probably damaging Het
Slc9a7 T C X: 20,005,158 (GRCm39) Y557C probably damaging Het
Slco1a1 A T 6: 141,854,851 (GRCm39) I600N probably damaging Het
Tmx2 T C 2: 84,503,643 (GRCm39) N190S probably benign Het
Tpr T G 1: 150,299,447 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,082,512 (GRCm39) V501A probably benign Het
Other mutations in Slc22a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Slc22a23 APN 13 34,387,984 (GRCm39) missense possibly damaging 0.71
IGL02496:Slc22a23 APN 13 34,528,468 (GRCm39) missense possibly damaging 0.93
IGL02516:Slc22a23 APN 13 34,387,938 (GRCm39) missense probably benign 0.02
IGL02831:Slc22a23 APN 13 34,483,052 (GRCm39) missense possibly damaging 0.81
Foreshadowed UTSW 13 34,379,462 (GRCm39) missense probably damaging 0.98
foretold UTSW 13 34,489,163 (GRCm39) missense probably benign 0.08
BB009:Slc22a23 UTSW 13 34,366,960 (GRCm39) missense probably damaging 0.99
BB019:Slc22a23 UTSW 13 34,366,960 (GRCm39) missense probably damaging 0.99
R0234:Slc22a23 UTSW 13 34,367,244 (GRCm39) missense probably damaging 1.00
R0234:Slc22a23 UTSW 13 34,367,244 (GRCm39) missense probably damaging 1.00
R0413:Slc22a23 UTSW 13 34,367,115 (GRCm39) missense probably damaging 1.00
R0557:Slc22a23 UTSW 13 34,528,366 (GRCm39) missense possibly damaging 0.50
R0558:Slc22a23 UTSW 13 34,528,366 (GRCm39) missense possibly damaging 0.50
R0636:Slc22a23 UTSW 13 34,483,076 (GRCm39) missense probably benign 0.01
R0676:Slc22a23 UTSW 13 34,379,462 (GRCm39) missense probably damaging 0.98
R0739:Slc22a23 UTSW 13 34,528,366 (GRCm39) missense possibly damaging 0.50
R0990:Slc22a23 UTSW 13 34,379,450 (GRCm39) missense probably damaging 1.00
R1515:Slc22a23 UTSW 13 34,387,947 (GRCm39) missense probably benign 0.33
R2128:Slc22a23 UTSW 13 34,387,953 (GRCm39) missense possibly damaging 0.76
R2147:Slc22a23 UTSW 13 34,366,990 (GRCm39) missense probably benign 0.00
R3113:Slc22a23 UTSW 13 34,367,058 (GRCm39) missense probably damaging 0.98
R3780:Slc22a23 UTSW 13 34,528,323 (GRCm39) missense probably benign 0.14
R3945:Slc22a23 UTSW 13 34,367,109 (GRCm39) missense probably damaging 0.98
R3946:Slc22a23 UTSW 13 34,367,109 (GRCm39) missense probably damaging 0.98
R4056:Slc22a23 UTSW 13 34,482,987 (GRCm39) nonsense probably null
R4095:Slc22a23 UTSW 13 34,489,189 (GRCm39) missense probably damaging 1.00
R4854:Slc22a23 UTSW 13 34,387,924 (GRCm39) missense probably benign
R5594:Slc22a23 UTSW 13 34,489,240 (GRCm39) missense probably damaging 0.99
R5611:Slc22a23 UTSW 13 34,489,222 (GRCm39) missense probably benign 0.00
R6167:Slc22a23 UTSW 13 34,528,542 (GRCm39) missense probably damaging 0.97
R6927:Slc22a23 UTSW 13 34,528,362 (GRCm39) missense probably benign 0.07
R6933:Slc22a23 UTSW 13 34,489,163 (GRCm39) missense probably benign 0.08
R6960:Slc22a23 UTSW 13 34,528,140 (GRCm39) critical splice donor site probably null
R7291:Slc22a23 UTSW 13 34,381,822 (GRCm39) missense probably damaging 0.99
R7313:Slc22a23 UTSW 13 34,367,161 (GRCm39) missense probably damaging 1.00
R7932:Slc22a23 UTSW 13 34,366,960 (GRCm39) missense probably damaging 0.99
R8058:Slc22a23 UTSW 13 34,489,167 (GRCm39) nonsense probably null
R9385:Slc22a23 UTSW 13 34,528,561 (GRCm39) missense probably benign 0.05
R9560:Slc22a23 UTSW 13 34,381,851 (GRCm39) missense possibly damaging 0.51
R9630:Slc22a23 UTSW 13 34,379,390 (GRCm39) missense possibly damaging 0.93
X0064:Slc22a23 UTSW 13 34,528,449 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20