Incidental Mutation 'R5164:Slc47a1'
ID 395601
Institutional Source Beutler Lab
Gene Symbol Slc47a1
Ensembl Gene ENSMUSG00000010122
Gene Name solute carrier family 47, member 1
Synonyms MATE1, mMATE1, 1300013J15Rik
MMRRC Submission 042745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5164 (G1)
Quality Score 164
Status Validated
Chromosome 11
Chromosomal Location 61234227-61269171 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 61243886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000131723]
AlphaFold Q8K0H1
Predicted Effect probably null
Transcript: ENSMUST00000010267
SMART Domains Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (49/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,583,793 (GRCm39) H4637Q probably benign Het
Akap6 A G 12: 53,189,249 (GRCm39) H2221R probably benign Het
Arsj A T 3: 126,231,808 (GRCm39) M185L probably benign Het
Ccdc177 T C 12: 80,805,336 (GRCm39) T313A unknown Het
Cdkal1 A T 13: 29,809,702 (GRCm39) L214H probably damaging Het
Cfap44 T A 16: 44,301,752 (GRCm39) I1830N probably damaging Het
Cfap65 T C 1: 74,965,675 (GRCm39) K445R probably damaging Het
Chrnb3 T A 8: 27,884,160 (GRCm39) I299N probably damaging Het
Cse1l C A 2: 166,786,348 (GRCm39) D826E probably benign Het
Cwf19l2 T C 9: 3,475,511 (GRCm39) V816A probably damaging Het
Dnah5 A T 15: 28,408,438 (GRCm39) E3474D probably benign Het
Dock5 A T 14: 68,055,110 (GRCm39) Y585* probably null Het
Ebf2 T C 14: 67,627,970 (GRCm39) S322P possibly damaging Het
Epha8 T C 4: 136,672,983 (GRCm39) E267G possibly damaging Het
Fkbp5 A G 17: 28,656,964 (GRCm39) probably null Het
Gbp4 T A 5: 105,284,743 (GRCm39) K49* probably null Het
Gramd4 A T 15: 85,985,032 (GRCm39) T98S probably benign Het
Hectd1 C A 12: 51,874,272 (GRCm39) M1I probably null Het
Hsd17b8 A G 17: 34,245,952 (GRCm39) probably benign Het
Hycc2 T C 1: 58,574,597 (GRCm39) T315A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Keg1 A G 19: 12,692,044 (GRCm39) probably benign Het
Lilra6 A T 7: 3,917,880 (GRCm39) V88E probably damaging Het
Mast1 A G 8: 85,640,147 (GRCm39) probably benign Het
Mdn1 A G 4: 32,759,011 (GRCm39) probably null Het
Nrdc C T 4: 108,896,914 (GRCm39) T511I probably damaging Het
Odad4 G A 11: 100,462,346 (GRCm39) W506* probably null Het
Or4c106 T A 2: 88,682,914 (GRCm39) L207I probably benign Het
Or5p6 G A 7: 107,631,487 (GRCm39) T21I possibly damaging Het
Or8k24 T C 2: 86,215,815 (GRCm39) T316A probably benign Het
Pms1 A G 1: 53,246,799 (GRCm39) V301A probably damaging Het
Pnisr A T 4: 21,859,237 (GRCm39) Q144L possibly damaging Het
Pp2d1 G T 17: 53,815,098 (GRCm39) T542K probably benign Het
Ppargc1b A T 18: 61,435,715 (GRCm39) C922S probably damaging Het
Ptprd T C 4: 76,018,995 (GRCm39) probably null Het
Runx3 T C 4: 134,848,441 (GRCm39) S9P possibly damaging Het
Serpina1b A G 12: 103,698,346 (GRCm39) S168P probably benign Het
Slc14a2 G A 18: 78,200,487 (GRCm39) A722V probably damaging Het
Slc23a2 T A 2: 131,917,370 (GRCm39) probably benign Het
Tcf20 A G 15: 82,740,804 (GRCm39) S216P probably damaging Het
Tpst1 T A 5: 130,130,842 (GRCm39) I104N probably damaging Het
Ufm1 A C 3: 53,765,348 (GRCm39) probably benign Het
Unkl A G 17: 25,432,083 (GRCm39) probably null Het
Usf3 T C 16: 44,038,543 (GRCm39) S1008P probably damaging Het
Ythdf3 T C 3: 16,237,677 (GRCm39) V6A possibly damaging Het
Zc3h3 A T 15: 75,648,875 (GRCm39) S752R probably benign Het
Zfp268 T C 4: 145,348,775 (GRCm39) Y71H probably damaging 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
IGL03038:Slc47a1 APN 11 61,243,918 (GRCm39) missense probably benign 0.14
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
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
Predicted Primers PCR Primer
(F):5'- CTGTGGTCCTCAGATTTGAACAAG -3'
(R):5'- GGGATTCATGCCCTCTGATTC -3'

Sequencing Primer
(F):5'- GGTCCTCAGATTTGAACAAGACTCTG -3'
(R):5'- AAGTCCCTGGCAGTTTAAGC -3'
Posted On 2016-06-21