Incidental Mutation 'R5609:Slc22a17'
ID 437990
Institutional Source Beutler Lab
Gene Symbol Slc22a17
Ensembl Gene ENSMUSG00000022199
Gene Name solute carrier family 22 (organic cation transporter), member 17
Synonyms 1700094C23Rik
MMRRC Submission 043158-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5609 (G1)
Quality Score 161
Status Not validated
Chromosome 14
Chromosomal Location 55143761-55150589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55146427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 63 (P63L)
Ref Sequence ENSEMBL: ENSMUSP00000049676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050772] [ENSMUST00000227880] [ENSMUST00000228495] [ENSMUST00000228119] [ENSMUST00000228588] [ENSMUST00000231305]
AlphaFold Q9D9E0
Predicted Effect probably damaging
Transcript: ENSMUST00000050772
AA Change: P63L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199
AA Change: P63L

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: P200L
Predicted Effect unknown
Transcript: ENSMUST00000226690
AA Change: P58L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227600
Predicted Effect probably benign
Transcript: ENSMUST00000227880
Predicted Effect possibly damaging
Transcript: ENSMUST00000228495
AA Change: P289L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000228119
AA Change: P288L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cabp4 T C 19: 4,189,251 (GRCm39) D102G probably benign Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Chac1 A G 2: 119,181,887 (GRCm39) K2E unknown Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Eif3k C A 7: 28,681,133 (GRCm39) A9S probably benign Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Tbc1d10c C T 19: 4,239,881 (GRCm39) M76I possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Timp2 T A 11: 118,210,987 (GRCm39) D60V probably damaging Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTACTAAGGGCTACGCTGG -3'
(R):5'- CTCCTCGAAGCCTAAAGTCTAGC -3'

Sequencing Primer
(F):5'- CTACGCTGGAGACAAAGATGGC -3'
(R):5'- CGAAGCCTAAAGTCTAGCTAGGTTTG -3'
Posted On 2016-10-26