Incidental Mutation 'R9802:Slc47a1'
ID 735276
Institutional Source Beutler Lab
Gene Symbol Slc47a1
Ensembl Gene ENSMUSG00000010122
Gene Name solute carrier family 47, member 1
Synonyms MATE1, mMATE1, 1300013J15Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9802 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 61234227-61269171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61240342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 445 (C445S)
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: C445S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122
AA Change: C445S

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,786,054 (GRCm39) D673G probably benign Het
Akr1b1 T C 6: 34,283,508 (GRCm39) Y292C probably benign Het
Alg8 T A 7: 97,027,486 (GRCm39) V118E possibly damaging Het
Alms1 T A 6: 85,606,220 (GRCm39) D2154E possibly damaging Het
Anln T C 9: 22,245,453 (GRCm39) I1029M probably damaging Het
Bltp3b G A 10: 89,615,755 (GRCm39) V133I probably benign Het
Bms1 T A 6: 118,368,147 (GRCm39) K1039I probably damaging Het
Cdh11 G A 8: 103,391,276 (GRCm39) T320I probably damaging Het
Col4a2 A G 8: 11,493,104 (GRCm39) N1299S probably benign Het
Dclk3 A G 9: 111,298,244 (GRCm39) D596G probably damaging Het
Dnah7a A T 1: 53,561,388 (GRCm39) C2090S probably benign Het
Dock7 T C 4: 98,846,384 (GRCm39) D1749G unknown Het
Egr1 T C 18: 34,995,674 (GRCm39) F152S probably damaging Het
Eln C A 5: 134,744,559 (GRCm39) A479S unknown Het
Gipc3 G A 10: 81,179,097 (GRCm39) probably benign Het
Hcfc2 G T 10: 82,574,269 (GRCm39) G148* probably null Het
Hmcn1 T C 1: 150,684,391 (GRCm39) D393G probably benign Het
Hnf4g A T 3: 3,699,404 (GRCm39) N45Y probably benign Het
Ighd G A 12: 113,371,455 (GRCm39) P265S Het
Igkv3-10 T C 6: 70,550,001 (GRCm39) V49A probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A T 10: 67,060,745 (GRCm39) I852F possibly damaging Het
Lhx5 T A 5: 120,572,663 (GRCm39) V94E possibly damaging Het
Map3k13 C A 16: 21,740,518 (GRCm39) P615H possibly damaging Het
Med12l T C 3: 59,169,346 (GRCm39) W1579R probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mib1 T A 18: 10,798,494 (GRCm39) L785H probably damaging Het
Mrgpra6 C T 7: 46,835,533 (GRCm39) R296K probably benign Het
Mutyh A G 4: 116,676,485 (GRCm39) S486G probably benign Het
Naa15 T A 3: 51,349,370 (GRCm39) Y96* probably null Het
Naip1 C G 13: 100,562,713 (GRCm39) E817D probably benign Het
Nxf1 G A 19: 8,739,772 (GRCm39) G42D probably damaging Het
Obscn T C 11: 58,885,189 (GRCm39) Y8023C unknown Het
Opn5 G A 17: 42,903,582 (GRCm39) T251I possibly damaging Het
Or4c11b T A 2: 88,625,491 (GRCm39) I255K probably damaging Het
Plcl1 T C 1: 55,735,241 (GRCm39) L194P probably damaging Het
Prkab1 T C 5: 116,162,274 (GRCm39) E12G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpinb9e T C 13: 33,439,078 (GRCm39) F168S probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 T A 4: 112,111,094 (GRCm39) V73E probably damaging Het
Syne2 A G 12: 76,037,197 (GRCm39) E3792G probably damaging Het
T G A 17: 8,654,988 (GRCm39) V173M probably damaging Het
Tsr1 T C 11: 74,799,225 (GRCm39) M802T possibly damaging Het
Ttll4 A G 1: 74,720,482 (GRCm39) N499S probably benign Het
Txnrd3 T A 6: 89,640,176 (GRCm39) probably null Het
Vmn1r195 T C 13: 22,463,273 (GRCm39) Y248H probably damaging Het
Ybx3 G A 6: 131,345,426 (GRCm39) R316C probably benign Het
Zc3h7b C T 15: 81,676,505 (GRCm39) P749L probably damaging Het
Zfp607a A T 7: 27,578,704 (GRCm39) K591N 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
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
Predicted Primers PCR Primer
(F):5'- GGCTTTTCACTGCAAGAGACC -3'
(R):5'- ACCATAAGCAGAAAGGGTCC -3'

Sequencing Primer
(F):5'- CTTTTCACTGCAAGAGACCAGAAATG -3'
(R):5'- GAAAGGGTCCAAATAACTTCCTG -3'
Posted On 2022-11-14