Incidental Mutation 'IGL01701:Slc22a17'
ID 104482
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 # IGL01701
Quality Score
Status
Chromosome 14
Chromosomal Location 55143761-55150589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55144718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 565 (H565R)
Ref Sequence ENSEMBL: ENSMUSP00000154165 (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: H339R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199
AA Change: H339R

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: ENSMUST00000227880
Predicted Effect probably damaging
Transcript: ENSMUST00000228119
AA Change: H564R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000228495
AA Change: H565R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231305
Predicted Effect probably benign
Transcript: ENSMUST00000228588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228249
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,254,776 (GRCm39) Y36H possibly damaging Het
Adgrv1 T C 13: 81,567,750 (GRCm39) D5141G possibly damaging Het
Adk G A 14: 21,153,922 (GRCm39) E42K probably damaging Het
Akap1 C A 11: 88,735,958 (GRCm39) V268L probably benign Het
Arl6ip5 A G 6: 97,187,774 (GRCm39) probably benign Het
Atrx A G X: 104,874,526 (GRCm39) S1945P probably damaging Het
Clec5a G A 6: 40,559,160 (GRCm39) probably benign Het
Cplane1 T C 15: 8,232,741 (GRCm39) probably benign Het
Cul3 G T 1: 80,255,140 (GRCm39) H6Q probably damaging Het
Fn1 T C 1: 71,669,012 (GRCm39) probably benign Het
Furin C A 7: 80,042,240 (GRCm39) V452F probably benign Het
Furin T A 7: 80,040,507 (GRCm39) D777V probably benign Het
Gm57859 T C 11: 113,579,927 (GRCm39) F441L probably benign Het
Hmgb4 G A 4: 128,154,166 (GRCm39) T134I probably benign Het
Ift74 A T 4: 94,550,895 (GRCm39) E349V possibly damaging Het
Igkv6-23 A T 6: 70,237,880 (GRCm39) L13Q probably damaging Het
Lekr1 A T 3: 65,591,425 (GRCm39) Y54F probably damaging Het
Lman1 A T 18: 66,127,921 (GRCm39) V241E possibly damaging Het
Mat1a T A 14: 40,836,772 (GRCm39) D167E probably benign Het
Myl6 G A 10: 128,327,966 (GRCm39) A130V probably damaging Het
Myo9a T C 9: 59,791,877 (GRCm39) probably null Het
Nlrp4f A T 13: 65,347,223 (GRCm39) W12R probably damaging Het
Nr1h4 T C 10: 89,314,669 (GRCm39) R276G probably benign Het
Or4f61 T C 2: 111,922,851 (GRCm39) N65S possibly damaging Het
Or5m13b C A 2: 85,754,421 (GRCm39) Q270K possibly damaging Het
Pag1 C T 3: 9,758,886 (GRCm39) E411K probably damaging Het
Prorp T G 12: 55,355,660 (GRCm39) probably benign Het
Rttn A G 18: 89,082,339 (GRCm39) N1422D probably damaging Het
Ryr1 C T 7: 28,759,235 (GRCm39) R3345Q probably damaging Het
Slc12a8 T C 16: 33,361,280 (GRCm39) L85P probably damaging Het
Slc46a3 T C 5: 147,823,108 (GRCm39) T245A probably benign Het
Thsd7b A G 1: 129,358,665 (GRCm39) H33R probably benign Het
Tmem131 A G 1: 36,847,318 (GRCm39) V1260A probably benign Het
Tmem30a A T 9: 79,681,461 (GRCm39) F236Y probably damaging Het
Trim30b A C 7: 104,015,258 (GRCm39) Y43* probably null Het
Trpc3 T C 3: 36,725,743 (GRCm39) K78E possibly damaging Het
Twist2 A T 1: 91,729,736 (GRCm39) M130L probably benign Het
Ube2q2l T A 6: 136,377,804 (GRCm39) Y342F probably damaging Het
Other mutations in Slc22a17
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-01-21