Incidental Mutation 'R1173:Slc16a7'
ID 99729
Institutional Source Beutler Lab
Gene Symbol Slc16a7
Ensembl Gene ENSMUSG00000020102
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 7
Synonyms 4921534N07Rik, 9030411M13Rik, D630004K10Rik, MCT2
MMRRC Submission 039246-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1173 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 125055139-125225334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125067241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 133 (L133I)
Ref Sequence ENSEMBL: ENSMUSP00000147968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063318] [ENSMUST00000105257] [ENSMUST00000210780] [ENSMUST00000211781]
AlphaFold O70451
Predicted Effect possibly damaging
Transcript: ENSMUST00000063318
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: L133I

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:MFS_1 22 389 2e-37 PFAM
transmembrane domain 404 426 N/A INTRINSIC
coiled coil region 436 463 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105257
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: L133I

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:MFS_1 22 389 6e-37 PFAM
transmembrane domain 404 426 N/A INTRINSIC
coiled coil region 436 463 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210780
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211781
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1246 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam30 G A 3: 98,070,222 (GRCm39) S685N probably benign Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Ahnak2 A T 12: 112,749,409 (GRCm39) I186N probably damaging Het
Amz1 A T 5: 140,737,691 (GRCm39) probably null Het
Anapc5 G A 5: 122,926,481 (GRCm39) A619V possibly damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bbox1 T C 2: 110,095,956 (GRCm39) D336G probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bpi A T 2: 158,109,660 (GRCm39) I203F probably benign Het
Cd151 A C 7: 141,050,569 (GRCm39) T241P probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cdh23 G A 10: 60,148,171 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dclre1b A C 3: 103,711,192 (GRCm39) S240A probably benign Het
Ddc A C 11: 11,796,634 (GRCm39) probably null Het
Dkk1 T C 19: 30,524,650 (GRCm39) R252G probably damaging Het
Dmrtc2 T A 7: 24,573,738 (GRCm39) M191K possibly damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Emx1 T C 6: 85,165,353 (GRCm39) probably benign Het
Fah T C 7: 84,250,344 (GRCm39) M1V probably null Het
Fmo6 A T 1: 162,753,710 (GRCm39) M144K probably damaging Het
Frem1 A G 4: 82,868,589 (GRCm39) V1445A probably benign Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gfm2 A G 13: 97,301,708 (GRCm39) probably null Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm19965 T A 1: 116,748,550 (GRCm39) probably benign Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Htra4 T C 8: 25,520,635 (GRCm39) D342G possibly damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Impdh2 T C 9: 108,439,028 (GRCm39) F99S probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Kazn A T 4: 141,886,349 (GRCm39) probably benign Het
Kcnq3 T A 15: 65,871,891 (GRCm39) T593S probably benign Het
Lamc1 T C 1: 153,122,977 (GRCm39) probably benign Het
Magi3 A G 3: 103,968,946 (GRCm39) probably null Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Meox2 T C 12: 37,159,151 (GRCm39) C108R possibly damaging Het
Nlrp9c C A 7: 26,079,860 (GRCm39) C722F probably damaging Het
Or2a5 T C 6: 42,874,285 (GRCm39) V300A probably benign Het
Pde10a C T 17: 9,139,378 (GRCm39) probably benign Het
Ppfia4 A G 1: 134,260,021 (GRCm39) probably benign Het
Psg18 T C 7: 18,088,742 (GRCm39) M1V probably null Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Retsat T C 6: 72,580,634 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Sfswap G A 5: 129,584,207 (GRCm39) probably null Het
Slc30a3 A T 5: 31,244,154 (GRCm39) M376K probably damaging Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Srbd1 C T 17: 86,405,940 (GRCm39) C620Y probably null Het
Trip10 T A 17: 57,560,363 (GRCm39) L100Q probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn1r123 C T 7: 20,896,257 (GRCm39) P50S probably damaging Het
Vmn1r158 T A 7: 22,489,870 (GRCm39) H113L probably benign Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Zbtb32 T A 7: 30,290,692 (GRCm39) E201V possibly damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zmynd11 T A 13: 9,739,585 (GRCm39) H437L probably damaging Het
Other mutations in Slc16a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Slc16a7 APN 10 125,066,803 (GRCm39) missense probably benign 0.16
IGL02228:Slc16a7 APN 10 125,066,667 (GRCm39) missense probably damaging 1.00
IGL02500:Slc16a7 APN 10 125,066,802 (GRCm39) missense probably damaging 1.00
IGL03277:Slc16a7 APN 10 125,066,560 (GRCm39) missense probably benign 0.00
R0044:Slc16a7 UTSW 10 125,063,951 (GRCm39) missense probably benign 0.01
R0076:Slc16a7 UTSW 10 125,063,939 (GRCm39) missense probably benign 0.34
R0285:Slc16a7 UTSW 10 125,130,500 (GRCm39) missense probably benign 0.22
R0546:Slc16a7 UTSW 10 125,066,742 (GRCm39) missense probably benign 0.02
R0898:Slc16a7 UTSW 10 125,069,370 (GRCm39) missense possibly damaging 0.46
R1123:Slc16a7 UTSW 10 125,067,016 (GRCm39) missense probably benign 0.00
R1459:Slc16a7 UTSW 10 125,066,489 (GRCm39) nonsense probably null
R1554:Slc16a7 UTSW 10 125,066,791 (GRCm39) missense possibly damaging 0.70
R1838:Slc16a7 UTSW 10 125,067,067 (GRCm39) missense probably damaging 1.00
R3545:Slc16a7 UTSW 10 125,130,569 (GRCm39) nonsense probably null
R3546:Slc16a7 UTSW 10 125,130,569 (GRCm39) nonsense probably null
R3547:Slc16a7 UTSW 10 125,130,569 (GRCm39) nonsense probably null
R3934:Slc16a7 UTSW 10 125,066,712 (GRCm39) missense probably damaging 1.00
R3935:Slc16a7 UTSW 10 125,066,712 (GRCm39) missense probably damaging 1.00
R4499:Slc16a7 UTSW 10 125,064,056 (GRCm39) missense probably damaging 1.00
R4512:Slc16a7 UTSW 10 125,069,308 (GRCm39) splice site probably null
R4513:Slc16a7 UTSW 10 125,069,308 (GRCm39) splice site probably null
R4514:Slc16a7 UTSW 10 125,069,308 (GRCm39) splice site probably null
R5157:Slc16a7 UTSW 10 125,069,333 (GRCm39) nonsense probably null
R5247:Slc16a7 UTSW 10 125,067,183 (GRCm39) missense probably damaging 1.00
R5385:Slc16a7 UTSW 10 125,130,473 (GRCm39) missense possibly damaging 0.85
R6198:Slc16a7 UTSW 10 125,064,084 (GRCm39) missense probably benign
R6263:Slc16a7 UTSW 10 125,130,508 (GRCm39) missense probably benign 0.16
R6430:Slc16a7 UTSW 10 125,066,887 (GRCm39) missense probably damaging 0.97
R7450:Slc16a7 UTSW 10 125,063,920 (GRCm39) missense probably benign 0.00
R7680:Slc16a7 UTSW 10 125,066,805 (GRCm39) missense probably benign 0.19
R8125:Slc16a7 UTSW 10 125,164,202 (GRCm39) critical splice donor site probably null
R9133:Slc16a7 UTSW 10 125,066,536 (GRCm39) missense probably benign 0.00
R9301:Slc16a7 UTSW 10 125,066,880 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2014-01-15