Incidental Mutation 'R5149:Slc22a19'
ID 395275
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 042732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5149 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 7650440-7688675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7688503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 19 (L19P)
Ref Sequence ENSEMBL: ENSMUSP00000025666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025666]
AlphaFold Q8VCA0
Predicted Effect probably damaging
Transcript: ENSMUST00000025666
AA Change: L19P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: L19P

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,717,673 (GRCm39) T245A probably benign Het
Akr1c13 G T 13: 4,244,168 (GRCm39) V74L probably benign Het
Amt G A 9: 108,178,650 (GRCm39) V389I possibly damaging Het
Ankrd26 T C 6: 118,535,957 (GRCm39) N159S probably benign Het
Atp1a4 A G 1: 172,059,572 (GRCm39) I840T probably damaging Het
Capn1 T C 19: 6,040,364 (GRCm39) probably null Het
Col27a1 T C 4: 63,249,664 (GRCm39) probably benign Het
Cyp2j5 A G 4: 96,547,744 (GRCm39) L166P probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dchs1 G A 7: 105,404,865 (GRCm39) T2559I probably damaging Het
Dnah12 C A 14: 26,572,883 (GRCm39) S258* probably null Het
Dpep1 A T 8: 123,927,177 (GRCm39) T309S probably benign Het
Epha5 A T 5: 84,298,217 (GRCm39) F559L probably damaging Het
Gm3409 T C 5: 146,474,571 (GRCm39) I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,662,178 (GRCm39) probably benign Het
Gtf3c1 G T 7: 125,267,209 (GRCm39) R941S probably damaging Het
Helb C T 10: 119,941,648 (GRCm39) E347K probably benign Het
Ighv14-3 A G 12: 114,023,710 (GRCm39) S36P probably damaging Het
Klrb1c T A 6: 128,760,670 (GRCm39) M211L probably benign Het
Larp7 C T 3: 127,334,460 (GRCm39) E510K probably damaging Het
Lrig1 C T 6: 94,605,025 (GRCm39) R190Q possibly damaging Het
Marchf6 A G 15: 31,462,140 (GRCm39) S863P possibly damaging Het
Mgst2 A G 3: 51,589,958 (GRCm39) N132S probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5w15 A T 2: 87,567,749 (GRCm39) S306R probably benign Het
Or6c6c T C 10: 129,541,377 (GRCm39) V210A probably benign Het
Papln A T 12: 83,818,656 (GRCm39) probably null Het
Poteg C T 8: 27,971,671 (GRCm39) S395L possibly damaging Het
Prox1 T A 1: 189,879,250 (GRCm39) I643F possibly damaging Het
Septin4 A G 11: 87,480,071 (GRCm39) E211G probably damaging Het
Serpinb6e A G 13: 34,016,468 (GRCm39) F422L probably damaging Het
Snf8 G T 11: 95,934,286 (GRCm39) A136S probably benign Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spta1 A G 1: 174,075,000 (GRCm39) T2409A probably damaging Het
Tat A G 8: 110,723,450 (GRCm39) S313G probably benign Het
Tep1 A T 14: 51,074,855 (GRCm39) C1785* probably null Het
Tmem132b A G 5: 125,699,989 (GRCm39) S176G probably damaging Het
Tnfrsf8 T C 4: 145,029,675 (GRCm39) R42G possibly damaging Het
Trio T C 15: 27,754,115 (GRCm39) D2124G possibly damaging Het
Trp53bp1 A T 2: 121,046,598 (GRCm39) D1067E probably benign Het
Tspan13 T C 12: 36,074,065 (GRCm39) S24G probably damaging Het
Zdbf2 T C 1: 63,344,062 (GRCm39) S814P possibly damaging Het
Zfp213 C A 17: 23,780,373 (GRCm39) R49L 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
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
R6091:Slc22a19 UTSW 19 7,688,428 (GRCm39) missense probably benign 0.26
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'- GGCATTTATCCGGTCTCAGG -3'
(R):5'- CATCAGGCTACTCCTCTTGG -3'

Sequencing Primer
(F):5'- ATCCGGTCTCAGGTTGGAGTC -3'
(R):5'- GGTATCTCTAAGGCAGTCAGCTC -3'
Posted On 2016-06-21