Incidental Mutation 'IGL01345:Slc22a15'
ID75017
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: 0.056) question?
Stock #IGL01345
Quality Score
Status
Chromosome3
Chromosomal Location101855776-101924453 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 101880176 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 259 (S259R)
Ref Sequence ENSEMBL: ENSMUSP00000102541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106928] [ENSMUST00000183255] [ENSMUST00000190824]
Predicted Effect probably benign
Transcript: ENSMUST00000106928
AA Change: S259R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: S259R

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 noncoding transcript
Transcript: ENSMUST00000183098
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: S104R
SMART Domains Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: S104R

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Armc4 T C 18: 7,266,947 K385E probably benign Het
Atr G A 9: 95,940,949 C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 L8* probably null Het
Erc1 T A 6: 119,761,263 K240* probably null Het
Gcat T C 15: 79,034,065 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gm8267 A G 14: 44,724,955 S3P probably damaging Het
Gpr26 T C 7: 131,967,432 F169L possibly damaging Het
Itgal T A 7: 127,300,956 F129I possibly damaging Het
Kcnk1 T A 8: 126,025,407 C251S possibly damaging Het
Nfkb1 T C 3: 135,594,981 D608G probably damaging Het
Nlrp2 T C 7: 5,317,492 E882G probably benign Het
Pik3r5 G A 11: 68,496,194 D854N possibly damaging Het
Rnf220 G A 4: 117,273,270 R253* probably null Het
Tln1 G A 4: 43,536,281 L2004F probably damaging Het
Tlnrd1 A G 7: 83,882,846 S126P probably damaging Het
Ulk4 T C 9: 121,208,162 T587A possibly damaging Het
Vasn A G 16: 4,648,368 I60V probably benign Het
Vps33a G T 5: 123,572,943 N13K probably benign Het
Zmiz2 A G 11: 6,405,015 D862G possibly damaging Het
Zswim3 T A 2: 164,820,137 L179H probably damaging Het
Other mutations in Slc22a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Slc22a15 APN 3 101860820 missense probably benign 0.00
IGL01120:Slc22a15 APN 3 101897166 missense probably damaging 1.00
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
R7354:Slc22a15 UTSW 3 101864581 missense probably benign 0.09
R7373:Slc22a15 UTSW 3 101877897 missense possibly damaging 0.78
Posted On2013-10-07