Incidental Mutation 'IGL00846:Slc22a15'
ID14051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a15
Ensembl Gene ENSMUSG00000033147
Gene Namesolute carrier family 22 (organic anion/cation transporter), member 15
SynonymsA530052I06Rik, 2610034P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.030) question?
Stock #IGL00846
Quality Score
Status
Chromosome3
Chromosomal Location101855776-101924453 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101860820 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 512 (Q512L)
Ref Sequence ENSEMBL: ENSMUSP00000102541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106928] [ENSMUST00000183255] [ENSMUST00000190824]
Predicted Effect probably benign
Transcript: ENSMUST00000106928
AA Change: Q512L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: Q512L

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Sugar_tr 58 495 6.9e-29 PFAM
Pfam:MFS_1 69 450 3.4e-24 PFAM
low complexity region 524 532 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182130
Predicted Effect probably benign
Transcript: ENSMUST00000183255
SMART Domains Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Sugar_tr 56 244 5.2e-13 PFAM
Pfam:MFS_1 69 244 7.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183293
Predicted Effect unknown
Transcript: ENSMUST00000190824
AA Change: Q357L
SMART Domains Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: Q357L

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Sugar_tr 88 341 3.3e-5 PFAM
low complexity region 369 377 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C230G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L42* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K109N probably damaging Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Plpp5 A T 8: 25,720,558 I59F probably damaging Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Serpinb3b T A 1: 107,155,849 N200I probably damaging Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Usp25 A G 16: 77,062,405 S264G probably damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wapl G T 14: 34,692,744 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null Het
Other mutations in Slc22a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Slc22a15 APN 3 101897166 missense probably damaging 1.00
IGL01345:Slc22a15 APN 3 101880176 missense probably benign 0.00
IGL01871:Slc22a15 APN 3 101860794 splice site probably benign
IGL01880:Slc22a15 APN 3 101860848 missense probably benign 0.32
R0310:Slc22a15 UTSW 3 101860511 missense probably benign 0.12
R1758:Slc22a15 UTSW 3 101860453 nonsense probably null
R1937:Slc22a15 UTSW 3 101880189 critical splice acceptor site probably null
R3804:Slc22a15 UTSW 3 101897274 missense probably damaging 1.00
R4830:Slc22a15 UTSW 3 101875603 intron probably benign
R5564:Slc22a15 UTSW 3 101864589 missense probably benign 0.34
R5684:Slc22a15 UTSW 3 101862955 missense probably damaging 1.00
R6034:Slc22a15 UTSW 3 101862919 missense possibly damaging 0.80
R6034:Slc22a15 UTSW 3 101862919 missense possibly damaging 0.80
R6114:Slc22a15 UTSW 3 101860852 nonsense probably null
R6481:Slc22a15 UTSW 3 101883583 missense possibly damaging 0.88
R6641:Slc22a15 UTSW 3 101875706 missense possibly damaging 0.52
R6945:Slc22a15 UTSW 3 101924114 missense probably damaging 0.99
Posted On2012-12-06