Incidental Mutation 'IGL03038:Slc47a1'
ID 408803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc47a1
Ensembl Gene ENSMUSG00000010122
Gene Name solute carrier family 47, member 1
Synonyms MATE1, mMATE1, 1300013J15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03038
Quality Score
Status
Chromosome 11
Chromosomal Location 61234227-61269171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61243918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 384 (V384M)
Ref Sequence ENSEMBL: ENSMUSP00000010267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000131723]
AlphaFold Q8K0H1
Predicted Effect probably benign
Transcript: ENSMUST00000010267
AA Change: V384M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: V384M

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:MatE 44 204 4.8e-34 PFAM
low complexity region 225 236 N/A INTRINSIC
Pfam:MatE 265 426 1.6e-32 PFAM
low complexity region 442 452 N/A INTRINSIC
transmembrane domain 545 564 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131723
SMART Domains Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
Pfam:MatE 44 180 2.7e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased blood urea nitrogen, increased circulating creatinine, and abnormal metformin pahrmacokinetics including increased plasma and tissue concentration with decreased kidney and liver clearance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Slc47a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Slc47a1 APN 11 61,260,950 (GRCm39) missense probably damaging 1.00
IGL02399:Slc47a1 APN 11 61,253,884 (GRCm39) missense probably damaging 1.00
IGL02586:Slc47a1 APN 11 61,235,147 (GRCm39) missense probably benign 0.14
IGL02832:Slc47a1 APN 11 61,254,239 (GRCm39) missense probably benign 0.01
IGL02873:Slc47a1 APN 11 61,253,643 (GRCm39) unclassified probably benign
R0392:Slc47a1 UTSW 11 61,262,608 (GRCm39) missense probably damaging 1.00
R0927:Slc47a1 UTSW 11 61,264,248 (GRCm39) missense probably damaging 0.96
R1255:Slc47a1 UTSW 11 61,260,974 (GRCm39) missense probably damaging 1.00
R1507:Slc47a1 UTSW 11 61,250,344 (GRCm39) critical splice donor site probably null
R1625:Slc47a1 UTSW 11 61,262,625 (GRCm39) missense probably damaging 1.00
R2029:Slc47a1 UTSW 11 61,268,833 (GRCm39) intron probably benign
R2137:Slc47a1 UTSW 11 61,235,318 (GRCm39) missense probably benign 0.21
R2434:Slc47a1 UTSW 11 61,258,548 (GRCm39) splice site probably null
R3115:Slc47a1 UTSW 11 61,258,506 (GRCm39) missense possibly damaging 0.88
R3752:Slc47a1 UTSW 11 61,235,207 (GRCm39) missense possibly damaging 0.84
R3839:Slc47a1 UTSW 11 61,243,884 (GRCm39) splice site probably benign
R4499:Slc47a1 UTSW 11 61,250,355 (GRCm39) missense probably benign
R4516:Slc47a1 UTSW 11 61,235,339 (GRCm39) missense probably benign
R4675:Slc47a1 UTSW 11 61,253,857 (GRCm39) missense probably benign 0.41
R4727:Slc47a1 UTSW 11 61,254,277 (GRCm39) missense possibly damaging 0.48
R4839:Slc47a1 UTSW 11 61,264,176 (GRCm39) splice site probably null
R4869:Slc47a1 UTSW 11 61,253,520 (GRCm39) missense probably benign 0.02
R5164:Slc47a1 UTSW 11 61,243,886 (GRCm39) splice site probably null
R5633:Slc47a1 UTSW 11 61,260,087 (GRCm39) missense probably damaging 1.00
R5957:Slc47a1 UTSW 11 61,235,168 (GRCm39) missense probably benign 0.06
R6793:Slc47a1 UTSW 11 61,250,229 (GRCm39) missense probably benign
R6952:Slc47a1 UTSW 11 61,235,280 (GRCm39) missense probably benign 0.04
R7082:Slc47a1 UTSW 11 61,268,767 (GRCm39) missense probably benign 0.04
R7923:Slc47a1 UTSW 11 61,254,229 (GRCm39) missense probably damaging 1.00
R8818:Slc47a1 UTSW 11 61,261,055 (GRCm39) missense probably benign 0.17
R9050:Slc47a1 UTSW 11 61,235,160 (GRCm39) missense probably benign 0.03
R9062:Slc47a1 UTSW 11 61,253,924 (GRCm39) missense probably benign 0.00
R9080:Slc47a1 UTSW 11 61,264,219 (GRCm39) missense possibly damaging 0.94
R9215:Slc47a1 UTSW 11 61,262,647 (GRCm39) missense probably benign 0.00
R9239:Slc47a1 UTSW 11 61,250,344 (GRCm39) critical splice donor site probably null
R9802:Slc47a1 UTSW 11 61,240,342 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02