Incidental Mutation 'R3780:Slc22a23'
ID 272021
Institutional Source Beutler Lab
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: 0.172) question?
Stock # R3780 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 34363141-34529165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34528323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 153 (T153I)
Ref Sequence ENSEMBL: ENSMUSP00000042742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040336]
AlphaFold Q3UHH2
Predicted Effect probably benign
Transcript: ENSMUST00000040336
AA Change: T153I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: T153I

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: T85I
SMART Domains Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: T85I

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148390
AA Change: T37I
SMART Domains Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: T37I

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
Meta Mutation Damage Score 0.1005 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,260,263 (GRCm39) noncoding transcript Het
Adam21 C T 12: 81,606,047 (GRCm39) V572I probably damaging Het
Arhgap32 T A 9: 32,063,315 (GRCm39) probably null Het
Carmil1 A T 13: 24,321,152 (GRCm39) I281N probably damaging Het
Cdh12 T A 15: 21,586,063 (GRCm39) probably null Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cntrob A G 11: 69,193,708 (GRCm39) L814P probably damaging Het
Csmd1 T C 8: 16,252,000 (GRCm39) N952S probably damaging Het
Cspg4 A G 9: 56,795,517 (GRCm39) Y1084C probably damaging Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Glis2 T C 16: 4,431,760 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,638 (GRCm39) E111G probably damaging Het
Kctd4 A G 14: 76,200,251 (GRCm39) D74G probably benign Het
Kif21b A T 1: 136,083,964 (GRCm39) K737M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama2 A T 10: 27,335,335 (GRCm39) N113K probably damaging Het
Ltv1 A G 10: 13,054,944 (GRCm39) S409P probably benign Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Myh6 A G 14: 55,201,415 (GRCm39) F95L probably benign Het
Ndufa4l2 A G 10: 127,351,289 (GRCm39) I27V probably benign Het
Npepl1 T G 2: 173,962,447 (GRCm39) L371R probably damaging Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Ocrl G A X: 47,027,180 (GRCm39) V416I probably benign Het
Or2g1 T G 17: 38,106,895 (GRCm39) C187G probably damaging Het
Padi2 C T 4: 140,645,048 (GRCm39) T94I probably benign Het
Pcca G A 14: 122,922,297 (GRCm39) E353K probably damaging Het
Pcdhgb2 T A 18: 37,824,810 (GRCm39) N600K probably damaging Het
Pex5l A G 3: 33,004,993 (GRCm39) L593P probably damaging Het
Rbp2 G A 9: 98,380,879 (GRCm39) D62N probably benign Het
Rock1 G T 18: 10,067,575 (GRCm39) N1319K probably benign Het
Ror1 A C 4: 100,269,314 (GRCm39) D384A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sacm1l A T 9: 123,381,855 (GRCm39) E152D probably benign Het
Seh1l T C 18: 67,908,087 (GRCm39) V3A probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Serpini1 T G 3: 75,521,942 (GRCm39) N144K probably damaging Het
Slfn8 A G 11: 82,908,280 (GRCm39) S88P probably benign Het
Stpg3 T A 2: 25,103,875 (GRCm39) M154L probably benign Het
Vmn2r115 G A 17: 23,564,146 (GRCm39) C106Y probably damaging Het
Washc3 C T 10: 88,055,122 (GRCm39) T112M probably benign Het
Zfp280d C T 9: 72,229,806 (GRCm39) T346M probably damaging Het
Other mutations in Slc22a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slc22a23 APN 13 34,489,228 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTTTTGGATGAGACCAGTGC -3'
(R):5'- CTGTTGCTGGACTACGATGG -3'

Sequencing Primer
(F):5'- ATGAGACCAGTGCGGATGCC -3'
(R):5'- TGGACTACGATGGCTCCGTG -3'
Posted On 2015-03-25