Incidental Mutation 'R6091:Slc22a19'
ID 485952
Institutional Source Beutler Lab
Gene Symbol Slc22a19
Ensembl Gene ENSMUSG00000024757
Gene Name solute carrier family 22 (organic anion transporter), member 19
Synonyms Slc22a9, Oat5, D630043A20Rik
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 7650440-7688675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7688428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 44 (I44T)
Ref Sequence ENSEMBL: ENSMUSP00000025666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025666]
AlphaFold Q8VCA0
Predicted Effect probably benign
Transcript: ENSMUST00000025666
AA Change: I44T

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: I44T

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Sugar_tr 103 528 6.3e-22 PFAM
Pfam:MFS_1 122 378 2.4e-20 PFAM
Pfam:MFS_1 377 549 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141771
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A24 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Slc22a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Slc22a19 APN 19 7,660,323 (GRCm39) missense probably benign 0.00
IGL01126:Slc22a19 APN 19 7,651,648 (GRCm39) missense possibly damaging 0.65
IGL01349:Slc22a19 APN 19 7,651,792 (GRCm39) missense probably benign 0.36
IGL01409:Slc22a19 APN 19 7,688,495 (GRCm39) missense probably benign 0.00
IGL01529:Slc22a19 APN 19 7,660,300 (GRCm39) missense probably damaging 0.97
IGL03382:Slc22a19 APN 19 7,659,227 (GRCm39) missense probably benign 0.01
R0269:Slc22a19 UTSW 19 7,686,986 (GRCm39) splice site probably benign
R0464:Slc22a19 UTSW 19 7,660,278 (GRCm39) missense probably benign 0.44
R1866:Slc22a19 UTSW 19 7,688,506 (GRCm39) missense probably damaging 1.00
R1975:Slc22a19 UTSW 19 7,661,224 (GRCm39) splice site probably benign
R2184:Slc22a19 UTSW 19 7,687,026 (GRCm39) missense probably benign
R2226:Slc22a19 UTSW 19 7,661,215 (GRCm39) missense possibly damaging 0.92
R2894:Slc22a19 UTSW 19 7,670,169 (GRCm39) missense probably benign 0.43
R4751:Slc22a19 UTSW 19 7,668,510 (GRCm39) missense possibly damaging 0.65
R5016:Slc22a19 UTSW 19 7,651,737 (GRCm39) missense probably benign 0.07
R5026:Slc22a19 UTSW 19 7,651,737 (GRCm39) missense probably benign 0.07
R5108:Slc22a19 UTSW 19 7,688,536 (GRCm39) missense probably benign
R5149:Slc22a19 UTSW 19 7,688,503 (GRCm39) missense probably damaging 1.00
R5714:Slc22a19 UTSW 19 7,688,387 (GRCm39) missense probably damaging 0.98
R6062:Slc22a19 UTSW 19 7,651,647 (GRCm39) missense probably damaging 1.00
R6982:Slc22a19 UTSW 19 7,660,334 (GRCm39) missense probably benign 0.08
R7624:Slc22a19 UTSW 19 7,671,183 (GRCm39) missense probably benign 0.44
R7624:Slc22a19 UTSW 19 7,650,668 (GRCm39) nonsense probably null
R7678:Slc22a19 UTSW 19 7,688,302 (GRCm39) missense possibly damaging 0.88
R7743:Slc22a19 UTSW 19 7,661,201 (GRCm39) missense possibly damaging 0.74
R7770:Slc22a19 UTSW 19 7,681,360 (GRCm39) splice site probably null
R8769:Slc22a19 UTSW 19 7,670,086 (GRCm39) missense possibly damaging 0.89
R8861:Slc22a19 UTSW 19 7,660,324 (GRCm39) missense possibly damaging 0.55
R9418:Slc22a19 UTSW 19 7,660,210 (GRCm39) missense possibly damaging 0.65
R9548:Slc22a19 UTSW 19 7,659,219 (GRCm39) critical splice donor site probably null
R9742:Slc22a19 UTSW 19 7,688,281 (GRCm39) missense probably benign 0.00
X0026:Slc22a19 UTSW 19 7,688,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAAGGAGATGCCACTGTG -3'
(R):5'- GGCAGTCAGCTCCTTACCTAAC -3'

Sequencing Primer
(F):5'- CCACTGTGGTTGAATATAGCGAC -3'
(R):5'- GGGACCCATTAAGAACAGCTCTG -3'
Posted On 2017-08-16