Incidental Mutation 'R3615:Slc16a1'
ID473047
Institutional Source Beutler Lab
Gene Symbol Slc16a1
Ensembl Gene ENSMUSG00000032902
Gene Namesolute carrier family 16 (monocarboxylic acid transporters), member 1
SynonymsMCT1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3615 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location104638668-104658462 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104653570 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 397 (L397Q)
Ref Sequence ENSEMBL: ENSMUSP00000045216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046212]
Predicted Effect probably damaging
Transcript: ENSMUST00000046212
AA Change: L397Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: L397Q

DomainStartEndE-ValueType
Pfam:MFS_1 17 399 3e-33 PFAM
Pfam:MFS_1 325 480 1.6e-10 PFAM
Meta Mutation Damage Score 0.6517 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (40/41)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,864 N399S probably benign Het
A2ml1 T C 6: 128,558,294 T818A probably benign Het
Aasdh A G 5: 76,888,782 V304A probably benign Het
Angptl3 G A 4: 99,034,465 A248T probably benign Het
Ap2b1 T A 11: 83,324,565 C112S possibly damaging Het
Aqr A T 2: 114,136,887 I549N probably damaging Het
Barhl1 C T 2: 28,911,550 D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 V821A probably damaging Het
Dclk2 G A 3: 86,920,035 P46S probably damaging Het
Dnah1 A G 14: 31,315,148 L247P possibly damaging Het
Dpysl2 T A 14: 66,834,370 H107L probably damaging Het
Dzip3 A G 16: 48,937,063 L869S probably damaging Het
Efs T C 14: 54,920,095 Y160C probably damaging Het
Enam A T 5: 88,504,447 N1197Y possibly damaging Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Fam184b A G 5: 45,582,815 V343A possibly damaging Het
Fbxw26 A T 9: 109,743,760 Y105* probably null Het
Fiz1 A G 7: 5,008,172 L449P probably benign Het
Foxi2 T A 7: 135,410,451 C23S possibly damaging Het
Gdf2 G A 14: 33,944,957 R212Q probably damaging Het
Gm5105 C A 3: 138,049,688 A46S unknown Het
Gm597 T C 1: 28,776,575 D792G probably benign Het
Grik5 C T 7: 25,022,571 A581T probably benign Het
Gse1 C G 8: 120,572,742 probably benign Het
Hsp90aa1 T A 12: 110,695,680 M1L possibly damaging Het
Hsp90aa1 C A 12: 110,695,681 probably null Het
Krt25 A C 11: 99,317,298 V368G possibly damaging Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lamc1 T C 1: 153,251,150 K417E probably damaging Het
Miip A G 4: 147,865,914 M75T probably benign Het
Nlrp10 A G 7: 108,924,476 F599S probably benign Het
Nlrp12 T A 7: 3,240,575 M436L probably benign Het
Olfr142 T C 2: 90,252,409 E193G possibly damaging Het
Pafah1b1 G A 11: 74,690,232 S57F probably damaging Het
Pla2g2e G A 4: 138,880,374 V22I probably benign Het
Plekhd1 A G 12: 80,717,270 E202G probably damaging Het
Prss21 A G 17: 23,872,831 T258A probably benign Het
Prss34 A G 17: 25,298,846 E65G probably benign Het
Psap A G 10: 60,294,603 N149S probably benign Het
Ptprf C T 4: 118,237,883 A275T probably benign Het
Sem1 A G 6: 6,578,520 L12P probably damaging Het
Sf3b3 A G 8: 110,844,523 Y4H probably damaging Het
Sh3bp4 G T 1: 89,137,705 R7L probably damaging Het
Smg5 A G 3: 88,336,451 S10G possibly damaging Het
Tas2r102 C T 6: 132,762,818 Q230* probably null Het
Tdo2 A G 3: 81,975,428 Y13H possibly damaging Het
Tmem231 C T 8: 111,918,313 R187H possibly damaging Het
Tmem30b A G 12: 73,545,579 M254T probably damaging Het
Trpm1 G A 7: 64,243,570 G1057R probably damaging Het
Tusc3 A T 8: 39,164,838 K347N probably damaging Het
Usp36 C T 11: 118,276,759 probably null Het
Vash2 T C 1: 190,970,419 Y117C probably damaging Het
Vrk2 A G 11: 26,489,866 I235T possibly damaging Het
Wdr20 A G 12: 110,793,939 T420A probably benign Het
Other mutations in Slc16a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0432:Slc16a1 UTSW 3 104653419 missense probably benign 0.00
R0532:Slc16a1 UTSW 3 104653418 nonsense probably null
R1638:Slc16a1 UTSW 3 104649482 missense possibly damaging 0.96
R1826:Slc16a1 UTSW 3 104650939 missense probably benign 0.22
R1900:Slc16a1 UTSW 3 104653564 missense probably damaging 0.97
R1964:Slc16a1 UTSW 3 104649466 missense probably damaging 1.00
R3616:Slc16a1 UTSW 3 104653570 missense probably damaging 1.00
R4485:Slc16a1 UTSW 3 104655478 missense probably benign 0.13
R4772:Slc16a1 UTSW 3 104653564 missense possibly damaging 0.80
R6106:Slc16a1 UTSW 3 104652994 missense probably benign
R6123:Slc16a1 UTSW 3 104653194 missense probably benign
Predicted Primers
Posted On2017-04-14