Incidental Mutation 'IGL02942:Slc16a5'
ID 364535
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 # IGL02942
Quality Score
Status
Chromosome 11
Chromosomal Location 115353300-115365224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115360176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 120 (F120L)
Ref Sequence ENSEMBL: ENSMUSP00000090102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092445] [ENSMUST00000106532] [ENSMUST00000153466]
AlphaFold G5E8K6
Predicted Effect possibly damaging
Transcript: ENSMUST00000092445
AA Change: F120L

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090102
Gene: ENSMUSG00000045775
AA Change: F120L

DomainStartEndE-ValueType
Pfam:MFS_1 15 303 5.9e-31 PFAM
Pfam:MFS_1 302 459 6.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106532
SMART Domains Protein: ENSMUSP00000102142
Gene: ENSMUSG00000045775

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 noncoding transcript
Transcript: ENSMUST00000140739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146500
Predicted Effect probably benign
Transcript: ENSMUST00000153466
SMART Domains Protein: ENSMUSP00000117727
Gene: ENSMUSG00000045775

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
transmembrane domain 85 107 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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,033,378 (GRCm39) D679E probably damaging Het
Adh6a A T 3: 138,030,642 (GRCm39) D88V probably damaging Het
Ank3 G A 10: 69,809,707 (GRCm39) V1123I probably damaging Het
Apba1 T C 19: 23,922,335 (GRCm39) V801A possibly damaging Het
Bcl2a1a C T 9: 88,839,095 (GRCm39) probably benign Het
Brd8 A G 18: 34,743,680 (GRCm39) V215A possibly damaging Het
Cdk17 G A 10: 93,074,830 (GRCm39) V454I probably benign Het
Chd5 G A 4: 152,470,182 (GRCm39) G1876D probably damaging Het
Clec4g T C 8: 3,768,356 (GRCm39) E125G probably damaging Het
Col24a1 G A 3: 145,247,420 (GRCm39) G1602D probably damaging Het
Depdc7 A C 2: 104,558,439 (GRCm39) L194R probably damaging Het
Dgke T G 11: 88,946,195 (GRCm39) N202H probably benign Het
Dkk2 T A 3: 131,883,798 (GRCm39) C233S probably damaging Het
Dmpk A C 7: 18,826,166 (GRCm39) D542A probably damaging Het
Epb41l4a G A 18: 34,007,254 (GRCm39) R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 (GRCm39) Q1438L probably damaging Het
Gcgr A G 11: 120,427,643 (GRCm39) probably null Het
Gm10295 T C 7: 71,000,250 (GRCm39) K110R unknown Het
Ifrd1 A G 12: 40,267,375 (GRCm39) probably null Het
Inpp5f A G 7: 128,296,624 (GRCm39) T365A probably benign Het
Kcnn3 A G 3: 89,559,383 (GRCm39) K551R probably benign Het
Lama2 A T 10: 26,917,216 (GRCm39) N2236K probably damaging Het
Larp7 A T 3: 127,337,844 (GRCm39) I405N possibly damaging Het
Meltf C A 16: 31,709,596 (GRCm39) Y432* probably null Het
Mst1r C A 9: 107,790,352 (GRCm39) T655K possibly damaging Het
Myh1 C T 11: 67,093,308 (GRCm39) P133L probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or52r1c A T 7: 102,735,405 (GRCm39) M222L probably benign Het
Or5b102 A T 19: 13,041,552 (GRCm39) Q259L probably benign Het
Or6a2 A G 7: 106,600,561 (GRCm39) S169P possibly damaging Het
Pfkl A T 10: 77,835,967 (GRCm39) probably null Het
Plekhb2 T C 1: 34,916,073 (GRCm39) M204T probably damaging Het
Ptp4a2 G A 4: 129,738,986 (GRCm39) probably null Het
Rtp4 A G 16: 23,431,704 (GRCm39) T79A probably benign Het
Senp3 T C 11: 69,568,815 (GRCm39) D410G probably benign Het
Snrpe T C 1: 133,536,669 (GRCm39) E37G probably damaging Het
Sorcs1 T C 19: 50,463,875 (GRCm39) T192A probably damaging Het
Spef2 T A 15: 9,668,960 (GRCm39) H742L possibly damaging Het
Syt12 T C 19: 4,497,858 (GRCm39) S375G probably benign Het
Tas2r117 T C 6: 132,780,657 (GRCm39) L265P probably benign Het
Tcp10a T A 17: 7,597,318 (GRCm39) D158E probably damaging Het
Tesk2 A T 4: 116,629,017 (GRCm39) H122L probably damaging Het
Tut7 T G 13: 59,959,335 (GRCm39) N378H probably damaging Het
Unc93b1 T A 19: 3,998,686 (GRCm39) M535K probably damaging Het
Vangl1 C A 3: 102,091,347 (GRCm39) R246S probably damaging Het
Xpo5 C T 17: 46,519,059 (GRCm39) T166I probably damaging Het
Zmiz2 T C 11: 6,349,500 (GRCm39) probably benign Het
Other mutations in Slc16a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Slc16a5 APN 11 115,355,827 (GRCm39) missense probably benign
IGL02190:Slc16a5 APN 11 115,353,435 (GRCm39) start codon destroyed probably null 1.00
IGL02852:Slc16a5 APN 11 115,360,405 (GRCm39) missense probably benign 0.03
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 2015-12-18