Incidental Mutation 'IGL02190:Slc16a5'
ID 283841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc16a5
Ensembl Gene ENSMUSG00000045775
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 5
Synonyms MCT5, A130015N09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02190
Quality Score
Status
Chromosome 11
Chromosomal Location 115353300-115365224 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 115353435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000117727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092445] [ENSMUST00000106532] [ENSMUST00000153466]
AlphaFold G5E8K6
Predicted Effect probably null
Transcript: ENSMUST00000092445
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090102
Gene: ENSMUSG00000045775
AA Change: M1V

DomainStartEndE-ValueType
Pfam:MFS_1 15 303 5.9e-31 PFAM
Pfam:MFS_1 302 459 6.2e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106532
AA Change: M1V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102142
Gene: ENSMUSG00000045775
AA Change: M1V

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140567
Predicted Effect probably null
Transcript: ENSMUST00000153466
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117727
Gene: ENSMUSG00000045775
AA Change: M1V

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144230
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 encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,217,788 (GRCm39) probably benign Het
Ano1 T C 7: 144,172,620 (GRCm39) E521G probably benign Het
As3mt A T 19: 46,708,384 (GRCm39) I224F probably benign Het
Atp5mf C A 5: 145,120,642 (GRCm39) probably benign Het
Cacna1h A G 17: 25,652,000 (GRCm39) V48A probably benign Het
Ctu2 T C 8: 123,208,397 (GRCm39) probably benign Het
Ecpas A T 4: 58,800,190 (GRCm39) S1838R probably benign Het
Efcab5 T C 11: 77,012,140 (GRCm39) R841G probably benign Het
Erbb3 A T 10: 128,406,879 (GRCm39) probably null Het
Fkbp15 G T 4: 62,223,059 (GRCm39) P947T possibly damaging Het
Gabpb1 A G 2: 126,495,469 (GRCm39) probably benign Het
Gcn1 G T 5: 115,752,183 (GRCm39) V2100L probably damaging Het
Gemin5 A C 11: 58,025,668 (GRCm39) V977G probably damaging Het
Gpr107 T A 2: 31,068,332 (GRCm39) Y265N probably damaging Het
Gpx8 T C 13: 113,179,843 (GRCm39) probably benign Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Ift172 C T 5: 31,411,802 (GRCm39) V1587I possibly damaging Het
Lrrc45 A G 11: 120,609,334 (GRCm39) T398A probably damaging Het
Mmrn1 G T 6: 60,964,177 (GRCm39) V1059L probably benign Het
Morn5 A G 2: 35,969,527 (GRCm39) D147G probably benign Het
Mphosph9 T C 5: 124,403,488 (GRCm39) R847G possibly damaging Het
Nutm1 C T 2: 112,079,751 (GRCm39) W721* probably null Het
Or1j18 T C 2: 36,624,591 (GRCm39) L86P probably benign Het
Or2j6 T C 7: 139,980,033 (GRCm39) probably benign Het
Or5w13 A G 2: 87,523,407 (GRCm39) M273T probably benign Het
Rgl3 A G 9: 21,893,004 (GRCm39) F227L probably benign Het
Ropn1l G T 15: 31,443,487 (GRCm39) L182I probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scgb1a1 A T 19: 9,065,231 (GRCm39) L12Q probably damaging Het
Scp2 A G 4: 107,944,325 (GRCm39) S237P probably benign Het
Skint5 T C 4: 113,797,962 (GRCm39) Q207R possibly damaging Het
Tox2 G A 2: 163,164,926 (GRCm39) R522H possibly damaging Het
Trip12 A T 1: 84,743,791 (GRCm39) N505K probably damaging Het
Tuba1c G A 15: 98,935,870 (GRCm39) D444N unknown Het
Vmn1r174 A G 7: 23,454,252 (GRCm39) E306G unknown Het
Vmn2r111 A T 17: 22,789,754 (GRCm39) F417L probably benign Het
Vmn2r15 A T 5: 109,441,240 (GRCm39) M206K probably damaging Het
Vmn2r95 G T 17: 18,672,038 (GRCm39) A592S probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Slc16a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Slc16a5 APN 11 115,355,827 (GRCm39) missense probably benign
IGL02852:Slc16a5 APN 11 115,360,405 (GRCm39) missense probably benign 0.03
IGL02942:Slc16a5 APN 11 115,360,176 (GRCm39) missense possibly damaging 0.50
R0090:Slc16a5 UTSW 11 115,355,751 (GRCm39) missense probably damaging 1.00
R1928:Slc16a5 UTSW 11 115,360,842 (GRCm39) missense probably damaging 0.98
R1930:Slc16a5 UTSW 11 115,360,194 (GRCm39) missense probably damaging 0.99
R1931:Slc16a5 UTSW 11 115,360,194 (GRCm39) missense probably damaging 0.99
R5255:Slc16a5 UTSW 11 115,353,501 (GRCm39) missense probably benign 0.13
R5548:Slc16a5 UTSW 11 115,360,630 (GRCm39) missense probably benign 0.32
R5592:Slc16a5 UTSW 11 115,363,608 (GRCm39) missense probably benign 0.05
R5770:Slc16a5 UTSW 11 115,363,604 (GRCm39) missense possibly damaging 0.70
R8381:Slc16a5 UTSW 11 115,360,716 (GRCm39) missense probably benign
R8560:Slc16a5 UTSW 11 115,360,545 (GRCm39) missense probably benign 0.00
R9487:Slc16a5 UTSW 11 115,360,738 (GRCm39) missense possibly damaging 0.95
Z1176:Slc16a5 UTSW 11 115,360,198 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16