Incidental Mutation 'IGL02588:Slc22a17'
ID 299633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a17
Ensembl Gene ENSMUSG00000022199
Gene Name solute carrier family 22 (organic cation transporter), member 17
Synonyms 1700094C23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02588
Quality Score
Status
Chromosome 14
Chromosomal Location 55143761-55150589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55145451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 233 (C233R)
Ref Sequence ENSEMBL: ENSMUSP00000049676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050772] [ENSMUST00000227880] [ENSMUST00000228119] [ENSMUST00000228495] [ENSMUST00000231305] [ENSMUST00000228588]
AlphaFold Q9D9E0
Predicted Effect probably damaging
Transcript: ENSMUST00000050772
AA Change: C233R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199
AA Change: C233R

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 370 1.8e-17 PFAM
Pfam:MFS_1 211 394 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226456
Predicted Effect unknown
Transcript: ENSMUST00000226467
AA Change: C370R
Predicted Effect silent
Transcript: ENSMUST00000226690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227600
Predicted Effect probably benign
Transcript: ENSMUST00000227880
Predicted Effect probably damaging
Transcript: ENSMUST00000228119
AA Change: C458R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228495
AA Change: C459R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,933,282 (GRCm39) W258* probably null Het
Ankmy2 T C 12: 36,226,685 (GRCm39) probably benign Het
Arhgap26 G T 18: 38,734,670 (GRCm39) probably benign Het
Aspscr1 A G 11: 120,568,357 (GRCm39) D60G possibly damaging Het
Cdh15 C A 8: 123,583,291 (GRCm39) Y31* probably null Het
Cnih3 A G 1: 181,237,269 (GRCm39) R76G probably benign Het
Cplx1 C A 5: 108,673,289 (GRCm39) R44L possibly damaging Het
Dhx57 T A 17: 80,576,300 (GRCm39) I597F probably damaging Het
Dnah17 G T 11: 117,916,479 (GRCm39) F4231L possibly damaging Het
Dst T G 1: 34,156,565 (GRCm39) L173R probably damaging Het
Fezf2 A T 14: 12,343,687 (GRCm38) Y353N probably damaging Het
Ghrhr T A 6: 55,360,395 (GRCm39) L247Q probably damaging Het
Gm10912 C T 2: 103,897,197 (GRCm39) probably benign Het
Gpcpd1 A T 2: 132,376,673 (GRCm39) L541H probably damaging Het
Gpld1 C T 13: 25,127,682 (GRCm39) T28I probably damaging Het
Lmf2 A T 15: 89,239,609 (GRCm39) probably null Het
Lratd2 T C 15: 60,694,999 (GRCm39) D249G probably damaging Het
Mex3c A G 18: 73,723,116 (GRCm39) N403S probably damaging Het
Nlrp1b A T 11: 71,073,105 (GRCm39) L246* probably null Het
Nlrp2 A T 7: 5,330,551 (GRCm39) L615* probably null Het
Nlrp4c A T 7: 6,087,647 (GRCm39) D760V probably benign Het
Nlrp4g T C 9: 124,348,843 (GRCm38) noncoding transcript Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Nuggc T A 14: 65,855,226 (GRCm39) probably benign Het
Or4c122 T C 2: 89,080,042 (GRCm39) probably benign Het
Or52d1 C T 7: 103,756,260 (GRCm39) T258I possibly damaging Het
Papolg T A 11: 23,840,252 (GRCm39) I75F probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pdp2 A G 8: 105,321,536 (GRCm39) K462E possibly damaging Het
Plod1 A T 4: 147,997,747 (GRCm39) L654* probably null Het
Ppp4r3b G T 11: 29,148,853 (GRCm39) G25* probably null Het
Ptch1 T C 13: 63,659,732 (GRCm39) D1307G probably benign Het
Ranbp17 A G 11: 33,167,361 (GRCm39) V1034A probably benign Het
Rbl2 T A 8: 91,813,712 (GRCm39) L319Q probably damaging Het
Retnlg A G 16: 48,693,255 (GRCm39) T11A probably benign Het
Rfc3 A T 5: 151,566,381 (GRCm39) F356Y possibly damaging Het
Rnf213 G T 11: 119,307,362 (GRCm39) C674F probably benign Het
Shcbp1l A G 1: 153,304,411 (GRCm39) K157E probably benign Het
Slc38a9 A G 13: 112,834,511 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St14 C A 9: 31,001,329 (GRCm39) probably benign Het
Sympk G A 7: 18,776,550 (GRCm39) V481M probably benign Het
Timeless T A 10: 128,079,203 (GRCm39) L350Q probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ugt3a1 A T 15: 9,361,542 (GRCm39) H106L probably benign Het
Zbtb45 A T 7: 12,740,204 (GRCm39) C470* probably null Het
Other mutations in Slc22a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Slc22a17 APN 14 55,144,718 (GRCm39) missense probably damaging 1.00
IGL02216:Slc22a17 APN 14 55,145,433 (GRCm39) makesense probably null
R1576:Slc22a17 UTSW 14 55,145,447 (GRCm39) missense probably damaging 1.00
R1976:Slc22a17 UTSW 14 55,145,957 (GRCm39) critical splice donor site probably null
R2027:Slc22a17 UTSW 14 55,145,543 (GRCm39) missense probably damaging 1.00
R2165:Slc22a17 UTSW 14 55,146,282 (GRCm39) nonsense probably null
R3547:Slc22a17 UTSW 14 55,144,694 (GRCm39) missense probably damaging 1.00
R5175:Slc22a17 UTSW 14 55,144,748 (GRCm39) missense probably damaging 1.00
R5609:Slc22a17 UTSW 14 55,146,427 (GRCm39) missense probably damaging 1.00
R7456:Slc22a17 UTSW 14 55,149,716 (GRCm39) missense probably benign 0.05
R7538:Slc22a17 UTSW 14 55,149,575 (GRCm39) missense probably benign 0.00
R8068:Slc22a17 UTSW 14 55,146,365 (GRCm39) missense probably benign 0.01
R8351:Slc22a17 UTSW 14 55,146,051 (GRCm39) missense probably benign 0.00
R8852:Slc22a17 UTSW 14 55,146,436 (GRCm39) missense probably damaging 1.00
R9371:Slc22a17 UTSW 14 55,147,139 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16