Incidental Mutation 'R6167:Slc22a23'
ID 490212
Institutional Source Beutler Lab
Gene Symbol Slc22a23
Ensembl Gene ENSMUSG00000038267
Gene Name solute carrier family 22, member 23
Synonyms 3110004L20Rik
MMRRC Submission 044313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6167 (G1)
Quality Score 131.008
Status Not validated
Chromosome 13
Chromosomal Location 34363141-34529165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34528542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 80 (Y80F)
Ref Sequence ENSEMBL: ENSMUSP00000042742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040336]
AlphaFold Q3UHH2
Predicted Effect probably damaging
Transcript: ENSMUST00000040336
AA Change: Y80F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: Y80F

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: Y12F
SMART Domains Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: Y12F

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Dcaf7 A T 11: 105,928,077 (GRCm39) Y43F probably damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Grip1 T C 10: 119,733,702 (GRCm39) probably null Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Prss54 G A 8: 96,286,173 (GRCm39) P300L possibly damaging Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Rapgef3 C A 15: 97,665,292 (GRCm39) probably benign Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Sh3glb1 A T 3: 144,397,664 (GRCm39) D358E probably damaging Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K 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
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
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'- GGTCCAATTGCCCATGTCAC -3'
(R):5'- GAGGACTCGAACGGTTTCTG -3'

Sequencing Primer
(F):5'- ATCGGCCGGTGACAGTG -3'
(R):5'- CCTGGCCATGGCGATAG -3'
Posted On 2017-10-10