Incidental Mutation 'R6123:Slc16a1'
ID 485815
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 044270-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6123 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 104545984-104565778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104560510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 272 (T272A)
Ref Sequence ENSEMBL: ENSMUSP00000045216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046212]
AlphaFold P53986
Predicted Effect probably benign
Transcript: ENSMUST00000046212
AA Change: T272A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: T272A

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: 95.5%
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
Acot7 A G 4: 152,284,402 (GRCm39) E24G probably benign Het
Ankrd34b A G 13: 92,575,584 (GRCm39) E272G probably damaging Het
Arhgef18 A T 8: 3,487,091 (GRCm39) N270I probably damaging Het
AU040320 A G 4: 126,763,179 (GRCm39) probably benign Het
Btnl10 C A 11: 58,811,130 (GRCm39) S151Y probably damaging Het
Ccdc146 C A 5: 21,510,595 (GRCm39) R504I possibly damaging Het
Ckmt1 C G 2: 121,194,060 (GRCm39) R408G probably benign Het
Clba1 T C 12: 112,774,530 (GRCm39) F153L probably damaging Het
Cyp2j6 A T 4: 96,406,266 (GRCm39) *502R probably null Het
Dido1 A T 2: 180,325,760 (GRCm39) V476E probably benign Het
Dnah2 T C 11: 69,409,185 (GRCm39) K398E probably benign Het
E130308A19Rik A G 4: 59,737,565 (GRCm39) Y392C probably damaging Het
Esf1 T A 2: 140,010,309 (GRCm39) D9V probably benign Het
Fam168a A G 7: 100,473,357 (GRCm39) Q82R probably damaging Het
Fastkd3 C T 13: 68,738,337 (GRCm39) Q32* probably null Het
Gm14496 T A 2: 181,633,020 (GRCm39) M1K probably null Het
Gm6665 A G 18: 31,952,937 (GRCm39) M79T probably benign Het
Gna15 A G 10: 81,345,178 (GRCm39) L229P probably damaging Het
Herc1 A G 9: 66,404,532 (GRCm39) T4451A probably damaging Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Ighv5-4 A T 12: 113,561,313 (GRCm39) S36T probably damaging Het
Ints3 A G 3: 90,320,861 (GRCm39) V186A probably benign Het
Jrk A G 15: 74,578,529 (GRCm39) I252T possibly damaging Het
Kcnh5 T C 12: 75,134,365 (GRCm39) S395G probably benign Het
Kcnt2 C T 1: 140,290,718 (GRCm39) P103S probably damaging Het
Klra10 T C 6: 130,256,339 (GRCm39) K105R probably benign Het
P4ha1 A T 10: 59,186,349 (GRCm39) K276I possibly damaging Het
Pcyox1 A G 6: 86,365,910 (GRCm39) S435P possibly damaging Het
Potegl T C 2: 23,120,134 (GRCm39) Y235H possibly damaging Het
Pramel26 A T 4: 143,539,334 (GRCm39) M53K possibly damaging Het
R3hdm1 A T 1: 128,096,773 (GRCm39) N103I probably damaging Het
Rnf213 T C 11: 119,302,339 (GRCm39) V421A probably damaging Het
Rnpc3 A T 3: 113,402,705 (GRCm39) probably null Het
Scaf11 A G 15: 96,318,335 (GRCm39) S410P probably benign Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Slitrk3 T C 3: 72,957,095 (GRCm39) D559G probably damaging Het
Sntb2 G A 8: 107,707,857 (GRCm39) G207D probably damaging Het
Spata31f1e A G 4: 42,793,065 (GRCm39) S356P possibly damaging Het
Spdye4a T C 5: 143,211,473 (GRCm39) I30M possibly damaging Het
Thumpd1 A T 7: 119,316,232 (GRCm39) V239E probably damaging Het
Tnfsf15 T C 4: 63,663,162 (GRCm39) S54G probably benign Het
Tor1aip1 A G 1: 155,882,951 (GRCm39) I299T probably damaging Het
Tpst2 C T 5: 112,456,084 (GRCm39) R208C probably damaging Het
Tubgcp2 T C 7: 139,587,510 (GRCm39) Y285C probably damaging Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Washc5 A G 15: 59,206,959 (GRCm39) S1105P probably damaging 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
R6106:Slc16a1 UTSW 3 104,560,310 (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'- TAGGGCCTGAGCAAGTCAAG -3'
(R):5'- TTTGCAACAACAGAAGCAGC -3'

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