Incidental Mutation 'R1976:Slc22a17'
ID 221763
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 039989-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1976 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55143761-55150589 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 55145957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050772] [ENSMUST00000228588] [ENSMUST00000227880] [ENSMUST00000231305] [ENSMUST00000228495] [ENSMUST00000228119]
AlphaFold Q9D9E0
Predicted Effect probably null
Transcript: ENSMUST00000050772
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199

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 probably benign
Transcript: ENSMUST00000226467
Predicted Effect probably benign
Transcript: ENSMUST00000226690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227600
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Predicted Effect probably benign
Transcript: ENSMUST00000227880
Predicted Effect probably null
Transcript: ENSMUST00000231305
Predicted Effect probably null
Transcript: ENSMUST00000228495
Predicted Effect probably null
Transcript: ENSMUST00000228119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,347,815 (GRCm39) V3556A probably damaging Het
Abcb5 T C 12: 118,854,417 (GRCm39) I833V probably benign Het
Adgrd1 A T 5: 129,217,861 (GRCm39) H432L probably benign Het
Alppl2 T A 1: 87,016,463 (GRCm39) I204F probably damaging Het
Ascc3 T A 10: 50,525,262 (GRCm39) F486I probably damaging Het
Bcl9l T A 9: 44,417,449 (GRCm39) L429Q possibly damaging Het
Ccdc33 A T 9: 58,024,445 (GRCm39) Y227* probably null Het
Cd101 A G 3: 100,915,377 (GRCm39) V730A probably damaging Het
Cdadc1 A T 14: 59,811,217 (GRCm39) V431E probably damaging Het
Dazap1 T A 10: 80,110,454 (GRCm39) probably null Het
Dbpht2 T A 12: 74,342,635 (GRCm39) noncoding transcript Het
Dennd4b A T 3: 90,180,362 (GRCm39) T742S probably damaging Het
Dhtkd1 T C 2: 5,907,202 (GRCm39) E838G possibly damaging Het
Dync2h1 A T 9: 7,129,045 (GRCm39) D1823E probably benign Het
Enox1 T A 14: 77,906,233 (GRCm39) N556K probably benign Het
Fam227a T C 15: 79,510,477 (GRCm39) I392M possibly damaging Het
Fnip2 A T 3: 79,388,238 (GRCm39) M831K probably benign Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Garre1 A C 7: 33,956,805 (GRCm39) N353K probably damaging Het
Glis3 T C 19: 28,240,077 (GRCm39) 936 probably benign Het
Gm4953 T A 1: 158,995,923 (GRCm39) noncoding transcript Het
Gsr T G 8: 34,170,288 (GRCm39) probably null Het
Habp4 G T 13: 64,332,420 (GRCm39) V344F probably benign Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Helb T C 10: 119,930,168 (GRCm39) D737G possibly damaging Het
Hltf A G 3: 20,160,610 (GRCm39) D759G probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itsn2 A G 12: 4,722,733 (GRCm39) probably benign Het
Kank2 A T 9: 21,705,857 (GRCm39) V387E probably damaging Het
Lefty1 T C 1: 180,765,389 (GRCm39) V319A probably benign Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Lpcat2b A T 5: 107,581,716 (GRCm39) K348N possibly damaging Het
Lsamp T C 16: 41,709,430 (GRCm39) V103A probably damaging Het
Ltbp4 A T 7: 27,026,195 (GRCm39) C538S probably damaging Het
Micu1 T C 10: 59,604,035 (GRCm39) S174P probably damaging Het
Mta1 A G 12: 113,099,926 (GRCm39) N607S probably damaging Het
Muc5b C T 7: 141,416,891 (GRCm39) S3279L probably benign Het
Naalad2 T C 9: 18,289,995 (GRCm39) E211G probably damaging Het
Nup155 T A 15: 8,165,311 (GRCm39) M649K probably benign Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pisd A G 5: 32,896,209 (GRCm39) V372A probably damaging Het
Prim1 T A 10: 127,859,668 (GRCm39) C288S probably benign Het
Rab23 T A 1: 33,763,019 (GRCm39) C30S probably damaging Het
Sacs A G 14: 61,440,344 (GRCm39) T797A probably benign Het
Sall3 T C 18: 81,015,108 (GRCm39) D940G probably benign Het
Scn1a T C 2: 66,161,615 (GRCm39) E311G probably benign Het
Sdk1 T A 5: 142,129,573 (GRCm39) I1598N probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Sprr3 T A 3: 92,364,253 (GRCm39) Q197L possibly damaging Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tas2r123 T A 6: 132,824,295 (GRCm39) V64D probably damaging Het
Trhde T G 10: 114,424,336 (GRCm39) N483T possibly damaging Het
Trp53 C T 11: 69,479,323 (GRCm39) T167M probably damaging Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tut4 T C 4: 108,336,720 (GRCm39) L148P probably benign Het
Usp17la A G 7: 104,509,527 (GRCm39) E44G possibly damaging Het
Usp40 T G 1: 87,906,258 (GRCm39) Q659P probably benign Het
Vmn1r4 T C 6: 56,933,723 (GRCm39) C76R probably damaging Het
Vmn2r118 C T 17: 55,899,925 (GRCm39) G660R probably damaging Het
Zfp786 T A 6: 47,796,691 (GRCm39) H749L 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
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
Predicted Primers PCR Primer
(F):5'- TGGTGAAGCCCAGGATAAGC -3'
(R):5'- AGGGCTTTACAGTTGACCCTAC -3'

Sequencing Primer
(F):5'- GCCCAGGATAAGCAGATTTTTCCAG -3'
(R):5'- AGTTGACCCTACCACCCTG -3'
Posted On 2014-08-25