Incidental Mutation 'R6106:Slc16a1'
ID 485496
Institutional Source Beutler Lab
Gene Symbol Slc16a1
Ensembl Gene ENSMUSG00000032902
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 1
Synonyms MCT1
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 104545984-104565778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104560310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 205 (L205P)
Ref Sequence ENSEMBL: ENSMUSP00000045216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046212]
AlphaFold P53986
Predicted Effect probably benign
Transcript: ENSMUST00000046212
AA Change: L205P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: L205P

DomainStartEndE-ValueType
Pfam:MFS_1 17 399 3e-33 PFAM
Pfam:MFS_1 325 480 1.6e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes are non-viable, while heterozygous animals are resistant to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Apoa5 A T 9: 46,181,931 (GRCm39) R336* probably null Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Slc16a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0432:Slc16a1 UTSW 3 104,560,735 (GRCm39) missense probably benign 0.00
R0532:Slc16a1 UTSW 3 104,560,734 (GRCm39) nonsense probably null
R1638:Slc16a1 UTSW 3 104,556,798 (GRCm39) missense possibly damaging 0.96
R1826:Slc16a1 UTSW 3 104,558,255 (GRCm39) missense probably benign 0.22
R1900:Slc16a1 UTSW 3 104,560,880 (GRCm39) missense probably damaging 0.97
R1964:Slc16a1 UTSW 3 104,556,782 (GRCm39) missense probably damaging 1.00
R3615:Slc16a1 UTSW 3 104,560,886 (GRCm39) missense probably damaging 1.00
R3616:Slc16a1 UTSW 3 104,560,886 (GRCm39) missense probably damaging 1.00
R4485:Slc16a1 UTSW 3 104,562,794 (GRCm39) missense probably benign 0.13
R4772:Slc16a1 UTSW 3 104,560,880 (GRCm39) missense possibly damaging 0.80
R6123:Slc16a1 UTSW 3 104,560,510 (GRCm39) missense probably benign
R8439:Slc16a1 UTSW 3 104,560,149 (GRCm39) missense probably benign 0.07
R9255:Slc16a1 UTSW 3 104,560,148 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CCAGCTCTGACTATGATTGGC -3'
(R):5'- CCACATTTCCAGACAGGTACAG -3'

Sequencing Primer
(F):5'- GTATTTCTACAAGAAGCGACCACTGG -3'
(R):5'- CAGGTACAGTAAAAAGCCCCTATGG -3'
Posted On 2017-08-16