Incidental Mutation 'R0739:Slc22a23'
ID 70638
Institutional Source Beutler Lab
Gene Symbol Slc22a23
Ensembl Gene ENSMUSG00000038267
Gene Name solute carrier family 22, member 23
Synonyms 3110004L20Rik
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 34363141-34529165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34528366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 139 (G139S)
Ref Sequence ENSEMBL: ENSMUSP00000042742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040336]
AlphaFold Q3UHH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000040336
AA Change: G139S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: G139S

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: G71S
SMART Domains Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: G71S

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148390
AA Change: G23S
SMART Domains Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: G23S

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
Predicted Primers PCR Primer
(F):5'- TGGATGAGACCAGTGCGGATGC -3'
(R):5'- AGCCTCCTGTTGCTGGACTACG -3'

Sequencing Primer
(F):5'- AGTGCGGATGCCGTAGTC -3'
(R):5'- TGCTGGACTACGATGGCTC -3'
Posted On 2013-09-30