Incidental Mutation 'IGL02216:Slc22a17'
ID 284912
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 # IGL02216
Quality Score
Status
Chromosome 14
Chromosomal Location 55143761-55150589 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 55145433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 198 (*198W)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050772] [ENSMUST00000228495] [ENSMUST00000228119] [ENSMUST00000228588] [ENSMUST00000231305] [ENSMUST00000227880]
AlphaFold Q9D9E0
Predicted Effect possibly damaging
Transcript: ENSMUST00000050772
AA Change: T239A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199
AA Change: T239A

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: T376A
Predicted Effect probably null
Transcript: ENSMUST00000226690
AA Change: *198W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227600
Predicted Effect probably damaging
Transcript: ENSMUST00000228495
AA Change: T465A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228119
AA Change: T464A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Predicted Effect probably benign
Transcript: ENSMUST00000227880
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Slc22a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Slc22a17 APN 14 55,144,718 (GRCm39) missense probably damaging 1.00
IGL02588:Slc22a17 APN 14 55,145,451 (GRCm39) missense probably damaging 1.00
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