Incidental Mutation 'IGL03038:Slc47a1'
ID408803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc47a1
Ensembl Gene ENSMUSG00000010122
Gene Namesolute carrier family 47, member 1
SynonymsmMATE1, 1300013J15Rik, MATE1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03038
Quality Score
Status
Chromosome11
Chromosomal Location61343401-61378345 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61353092 bp
ZygosityHeterozygous
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]
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: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign Het
Other mutations in Slc47a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Slc47a1 APN 11 61370124 missense probably damaging 1.00
IGL02399:Slc47a1 APN 11 61363058 missense probably damaging 1.00
IGL02586:Slc47a1 APN 11 61344321 missense probably benign 0.14
IGL02832:Slc47a1 APN 11 61363413 missense probably benign 0.01
IGL02873:Slc47a1 APN 11 61362817 unclassified probably benign
R0392:Slc47a1 UTSW 11 61371782 missense probably damaging 1.00
R0927:Slc47a1 UTSW 11 61373422 missense probably damaging 0.96
R1255:Slc47a1 UTSW 11 61370148 missense probably damaging 1.00
R1507:Slc47a1 UTSW 11 61359518 critical splice donor site probably null
R1625:Slc47a1 UTSW 11 61371799 missense probably damaging 1.00
R2029:Slc47a1 UTSW 11 61378007 intron probably benign
R2137:Slc47a1 UTSW 11 61344492 missense probably benign 0.21
R2434:Slc47a1 UTSW 11 61367722 splice site probably null
R3115:Slc47a1 UTSW 11 61367680 missense possibly damaging 0.88
R3752:Slc47a1 UTSW 11 61344381 missense possibly damaging 0.84
R3839:Slc47a1 UTSW 11 61353058 splice site probably benign
R4499:Slc47a1 UTSW 11 61359529 missense probably benign
R4516:Slc47a1 UTSW 11 61344513 missense probably benign
R4675:Slc47a1 UTSW 11 61363031 missense probably benign 0.41
R4727:Slc47a1 UTSW 11 61363451 missense possibly damaging 0.48
R4839:Slc47a1 UTSW 11 61373350 splice site probably null
R4869:Slc47a1 UTSW 11 61362694 missense probably benign 0.02
R5164:Slc47a1 UTSW 11 61353060 splice site probably null
R5633:Slc47a1 UTSW 11 61369261 missense probably damaging 1.00
R5957:Slc47a1 UTSW 11 61344342 missense probably benign 0.06
R6793:Slc47a1 UTSW 11 61359403 missense probably benign
R6952:Slc47a1 UTSW 11 61344454 missense probably benign 0.04
R7082:Slc47a1 UTSW 11 61377941 missense probably benign 0.04
Posted On2016-08-02