Incidental Mutation 'IGL02496:Slc22a23'
ID295846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a23
Ensembl Gene ENSMUSG00000038267
Gene Namesolute carrier family 22, member 23
Synonyms3110004L20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL02496
Quality Score
Status
Chromosome13
Chromosomal Location34179158-34345182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34344485 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 105 (I105F)
Ref Sequence ENSEMBL: ENSMUSP00000042742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040336]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040336
AA Change: I105F

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: I105F

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 unknown
Transcript: ENSMUST00000145038
AA Change: I37F
SMART Domains Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: I37F

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148390
SMART Domains Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,288,553 H1456P possibly damaging Het
Abcg1 C A 17: 31,105,604 H274Q probably damaging Het
Adamts4 G A 1: 171,250,943 R44Q probably benign Het
Amigo2 A T 15: 97,245,613 C309* probably null Het
Ccdc88c A C 12: 100,953,293 S446A probably benign Het
Cd9 A T 6: 125,472,495 V28E probably damaging Het
Cops2 A T 2: 125,836,243 probably benign Het
Csn1s1 C T 5: 87,677,594 probably benign Het
Cul9 G T 17: 46,540,376 R373S possibly damaging Het
D630045J12Rik G T 6: 38,149,705 H1457N probably damaging Het
Dnah9 A G 11: 66,029,363 S2235P probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo10 A T 4: 45,043,883 W647R probably damaging Het
Flnb T A 14: 7,930,919 probably benign Het
Flnc G T 6: 29,440,685 V301L probably damaging Het
Hfm1 T C 5: 106,901,761 S445G probably benign Het
Hif3a A G 7: 17,039,678 probably benign Het
Hsd17b4 T C 18: 50,155,153 Y217H probably damaging Het
Iba57 T C 11: 59,158,946 T192A probably benign Het
Igkv5-48 A T 6: 69,726,687 I78N probably damaging Het
Inhbe A T 10: 127,350,928 W128R probably damaging Het
Ism1 T C 2: 139,757,201 C365R probably damaging Het
Kif19a A T 11: 114,779,644 T127S probably damaging Het
Kmt2d C A 15: 98,857,558 probably benign Het
Mmp20 A G 9: 7,654,041 R321G probably damaging Het
Msl2 T C 9: 101,100,655 M76T possibly damaging Het
Nme9 T C 9: 99,469,631 C223R probably damaging Het
Nucb1 G T 7: 45,495,043 probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1450 T A 19: 12,954,192 I201N possibly damaging Het
Olfr449 A C 6: 42,838,804 I308L probably benign Het
Olfr46 A C 7: 140,610,168 M1L probably benign Het
P4ha1 A G 10: 59,371,002 probably null Het
Parp8 T C 13: 116,862,302 probably benign Het
Pcdhb6 A G 18: 37,335,454 D476G probably damaging Het
Pikfyve A G 1: 65,264,376 E1685G possibly damaging Het
Plod2 T A 9: 92,607,094 L714Q probably damaging Het
Plscr2 A G 9: 92,289,663 I103V probably benign Het
Plscr3 C A 11: 69,847,383 probably benign Het
Pmaip1 A G 18: 66,463,299 R80G probably damaging Het
Ppm1d C T 11: 85,339,666 P370L possibly damaging Het
Prr36 C A 8: 4,216,407 E48* probably null Het
Ptgir G A 7: 16,907,484 V234I possibly damaging Het
Ptk7 A T 17: 46,590,144 V219E probably benign Het
Rab39b T A X: 75,575,003 I74F probably damaging Het
Rasal2 A T 1: 157,149,879 M1075K possibly damaging Het
Rpl37a G A 1: 72,711,726 A20T probably null Het
Serpinb10 A C 1: 107,538,425 probably null Het
Sipa1l1 T A 12: 82,425,094 Y1283N probably damaging Het
Slc25a20 T A 9: 108,682,400 I221N probably damaging Het
Smarcal1 A T 1: 72,620,088 H691L probably damaging Het
Smo A C 6: 29,758,481 T542P probably damaging Het
Spats2 T A 15: 99,173,448 I51N probably damaging Het
Spon1 G T 7: 114,036,662 V704L probably benign Het
St5 C A 7: 109,556,235 R436L possibly damaging Het
Tex9 T A 9: 72,482,492 Q112L probably benign Het
Tgfbr2 T C 9: 116,090,418 E580G probably benign Het
Top2b T A 14: 16,387,335 V141E probably benign Het
Trhde A T 10: 114,800,561 L247* probably null Het
Umodl1 G T 17: 30,998,654 V1145F probably damaging Het
Vasp C A 7: 19,258,823 probably benign Het
Vmn1r8 G T 6: 57,036,571 L202F probably damaging Het
Vmn2r111 T C 17: 22,568,856 T505A probably benign Het
Wdr27 A G 17: 14,892,431 probably benign Het
Wfdc1 T G 8: 119,680,170 V109G probably damaging Het
Zan C A 5: 137,464,794 E708* probably null Het
Zbtb1 T A 12: 76,385,395 F52I possibly damaging Het
Zfp236 A G 18: 82,629,992 S1015P probably damaging Het
Zfp532 T C 18: 65,624,042 S349P probably damaging Het
Znfx1 A T 2: 167,047,630 C731S possibly damaging Het
Other mutations in Slc22a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slc22a23 APN 13 34305245 missense probably damaging 1.00
IGL01762:Slc22a23 APN 13 34204001 missense possibly damaging 0.71
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
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
X0064:Slc22a23 UTSW 13 34344466 missense probably damaging 1.00
Posted On2015-04-16