Incidental Mutation 'IGL02588:Slc22a17'
ID299633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a17
Ensembl Gene ENSMUSG00000022199
Gene Namesolute carrier family 22 (organic cation transporter), member 17
Synonyms1700094C23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02588
Quality Score
Status
Chromosome14
Chromosomal Location54906304-54913132 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54907994 bp
ZygosityHeterozygous
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] [ENSMUST00000228588] [ENSMUST00000231305]
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 noncoding transcript
Transcript: ENSMUST00000228249
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: ENSMUST00000228588
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Olfr646 C T 7: 104,107,053 T258I possibly damaging Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Slc22a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Slc22a17 APN 14 54907261 missense probably damaging 1.00
IGL02216:Slc22a17 APN 14 54907976 makesense probably null
R1576:Slc22a17 UTSW 14 54907990 missense probably damaging 1.00
R1976:Slc22a17 UTSW 14 54908500 critical splice donor site probably null
R2027:Slc22a17 UTSW 14 54908086 missense probably damaging 1.00
R2165:Slc22a17 UTSW 14 54908825 nonsense probably null
R3547:Slc22a17 UTSW 14 54907237 missense probably damaging 1.00
R5175:Slc22a17 UTSW 14 54907291 missense probably damaging 1.00
R5609:Slc22a17 UTSW 14 54908970 missense probably damaging 1.00
R7456:Slc22a17 UTSW 14 54912259 missense probably benign 0.05
R7538:Slc22a17 UTSW 14 54912118 missense probably benign 0.00
R8068:Slc22a17 UTSW 14 54908908 missense probably benign 0.01
R8351:Slc22a17 UTSW 14 54908594 missense probably benign 0.00
R8852:Slc22a17 UTSW 14 54908979 missense probably damaging 1.00
Posted On2015-04-16