Incidental Mutation 'IGL02873:Slc47a1'
ID 362622
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 # IGL02873
Quality Score
Status
Chromosome 11
Chromosomal Location 61234227-61269171 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 61253643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000131723] [ENSMUST00000148671]
AlphaFold Q8K0H1
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147583
Predicted Effect probably benign
Transcript: ENSMUST00000148671
SMART Domains Protein: ENSMUSP00000118265
Gene: ENSMUSG00000010122

DomainStartEndE-ValueType
Pfam:MatE 1 154 4.5e-30 PFAM
transmembrane domain 164 186 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.] 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A T 7: 50,249,431 (GRCm39) H155L probably damaging Het
5830462I19Rik G A 9: 110,203,446 (GRCm39) probably benign Het
Ankib1 T A 5: 3,822,619 (GRCm39) Q29L probably damaging Het
Arid5b A T 10: 67,937,780 (GRCm39) M449K probably benign Het
Atp1a1 A G 3: 101,483,894 (GRCm39) V1017A probably benign Het
Cfap52 G T 11: 67,822,608 (GRCm39) T421K probably damaging Het
Chd8 A T 14: 52,459,970 (GRCm39) I780N probably damaging Het
Cubn T C 2: 13,299,181 (GRCm39) D3164G probably benign Het
Cyp4f37 A T 17: 32,844,142 (GRCm39) Q82L probably benign Het
Eml6 T A 11: 29,830,700 (GRCm39) D265V probably benign Het
Gm14393 T C 2: 174,903,595 (GRCm39) D104G possibly damaging Het
Gpat2 T C 2: 127,273,675 (GRCm39) V271A probably benign Het
Ifna4 T C 4: 88,760,423 (GRCm39) F109S probably damaging Het
Il27ra T C 8: 84,758,164 (GRCm39) S529G probably benign Het
Jag2 A G 12: 112,874,122 (GRCm39) L1011P probably benign Het
Kif7 A G 7: 79,356,507 (GRCm39) L728P probably damaging Het
Klhl21 T C 4: 152,099,817 (GRCm39) V509A probably benign Het
Map2k4 T A 11: 65,610,400 (GRCm39) N92I probably damaging Het
Myo15a A T 11: 60,374,308 (GRCm39) D1288V probably damaging Het
Or4k37 T C 2: 111,159,217 (GRCm39) V151A probably benign Het
Or5g25 C A 2: 85,478,096 (GRCm39) A190S possibly damaging Het
Paip1 T A 13: 119,582,348 (GRCm39) F275L possibly damaging Het
Plxnd1 T C 6: 115,936,937 (GRCm39) D1624G probably damaging Het
Ppwd1 C A 13: 104,346,261 (GRCm39) D465Y probably damaging Het
Resf1 T C 6: 149,228,538 (GRCm39) L528P probably damaging Het
Rftn1 A C 17: 50,476,180 (GRCm39) probably benign Het
Scn1b T A 7: 30,817,182 (GRCm39) Y180F probably damaging Het
Slc16a4 A G 3: 107,208,111 (GRCm39) D207G probably benign Het
Slc2a3 T C 6: 122,717,373 (GRCm39) T28A probably damaging Het
Spata1 A T 3: 146,193,122 (GRCm39) V123D possibly damaging Het
Stard9 T C 2: 120,544,288 (GRCm39) V4469A probably damaging Het
Trmu T A 15: 85,781,033 (GRCm39) probably null Het
Trrap T A 5: 144,777,889 (GRCm39) probably benign Het
Ttn T C 2: 76,726,475 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,988,027 (GRCm39) D974G probably benign Het
Tyw1 C T 5: 130,364,171 (GRCm39) R621C probably benign Het
Usp7 A T 16: 8,513,058 (GRCm39) probably benign Het
Zfp39 T C 11: 58,781,848 (GRCm39) K305E probably benign Het
Zfp692 C T 11: 58,199,765 (GRCm39) T118M 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
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
R9802:Slc47a1 UTSW 11 61,240,342 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18