Incidental Mutation 'R4471:Slc16a3'
ID 329451
Institutional Source Beutler Lab
Gene Symbol Slc16a3
Ensembl Gene ENSMUSG00000025161
Gene Name solute carrier family 16 (monocarboxylic acid transporters), member 3
Synonyms monocarboxylate transporter 4, MCT3, MCT4
MMRRC Submission 041728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4471 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120839310-120849826 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 120846774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070653] [ENSMUST00000100130] [ENSMUST00000129473] [ENSMUST00000133029] [ENSMUST00000154187] [ENSMUST00000168579]
AlphaFold P57787
Predicted Effect probably benign
Transcript: ENSMUST00000070653
SMART Domains Protein: ENSMUSP00000068854
Gene: ENSMUSG00000025161

DomainStartEndE-ValueType
Pfam:MFS_1 25 375 6.3e-32 PFAM
transmembrane domain 390 412 N/A INTRINSIC
low complexity region 420 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100130
SMART Domains Protein: ENSMUSP00000097706
Gene: ENSMUSG00000025161

DomainStartEndE-ValueType
Pfam:MFS_1 25 375 6.3e-32 PFAM
transmembrane domain 390 412 N/A INTRINSIC
low complexity region 420 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129473
SMART Domains Protein: ENSMUSP00000117275
Gene: ENSMUSG00000025161

DomainStartEndE-ValueType
Pfam:MFS_1 25 290 5.9e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140467
Predicted Effect probably benign
Transcript: ENSMUST00000154187
SMART Domains Protein: ENSMUSP00000122784
Gene: ENSMUSG00000025161

DomainStartEndE-ValueType
Pfam:MFS_1 25 253 3.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168579
SMART Domains Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161

DomainStartEndE-ValueType
Pfam:MFS_1 25 375 8.3e-32 PFAM
transmembrane domain 390 412 N/A INTRINSIC
low complexity region 420 432 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Ankrd13b T A 11: 77,367,040 (GRCm39) K49M probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Cdc34b A G 11: 94,633,064 (GRCm39) E88G probably benign Het
Cdh2 T C 18: 16,907,533 (GRCm39) probably null Het
Ceacam1 T A 7: 25,174,025 (GRCm39) N210I possibly damaging Het
Celf3 A G 3: 94,395,585 (GRCm39) probably null Het
Cfap20dc A G 14: 8,536,571 (GRCm38) L212P probably damaging Het
Cmya5 A T 13: 93,228,833 (GRCm39) M2085K probably benign Het
Cpne6 G A 14: 55,754,089 (GRCm39) V469M probably damaging Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dnajb4 A T 3: 151,890,799 (GRCm39) H333Q probably benign Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Eml1 T C 12: 108,472,894 (GRCm39) probably benign Het
Ern1 C A 11: 106,310,868 (GRCm39) V302L possibly damaging Het
Fam110b A T 4: 5,799,092 (GRCm39) H170L probably benign Het
Fn3krp T G 11: 121,317,499 (GRCm39) D146E probably benign Het
Git1 A G 11: 77,390,650 (GRCm39) T129A probably benign Het
Glrp1 T A 1: 88,431,196 (GRCm39) Q58L unknown Het
Gpatch2 A G 1: 186,965,337 (GRCm39) E281G probably damaging Het
Hipk2 T A 6: 38,713,857 (GRCm39) probably benign Het
Hydin A G 8: 111,313,764 (GRCm39) N4214S probably damaging Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Impdh1 G A 6: 29,204,631 (GRCm39) Q307* probably null Het
Ivns1abp C T 1: 151,236,990 (GRCm39) T447M probably benign Het
Lman1 A T 18: 66,124,797 (GRCm39) probably benign Het
Mdn1 A G 4: 32,668,860 (GRCm39) E306G probably benign Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Mtif2 T C 11: 29,490,053 (GRCm39) probably benign Het
Mvp C T 7: 126,601,130 (GRCm39) M1I probably null Het
Myh7 A T 14: 55,229,311 (GRCm39) Y162* probably null Het
Nemf G A 12: 69,361,216 (GRCm39) H956Y probably benign Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Patj A G 4: 98,423,816 (GRCm39) K621E probably damaging Het
Prss2 A G 6: 41,499,780 (GRCm39) I24V probably damaging Het
R3hcc1l T C 19: 42,571,259 (GRCm39) probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Slc5a4b G A 10: 75,894,725 (GRCm39) Q594* probably null Het
Slk T G 19: 47,603,862 (GRCm39) V202G probably damaging Het
Smarca2 T A 19: 26,597,277 (GRCm39) V53D possibly damaging Het
Snrnp200 T A 2: 127,080,673 (GRCm39) V2036E probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcstv2a G T 13: 120,725,579 (GRCm39) R81L probably benign Het
Tecrl A G 5: 83,461,134 (GRCm39) Y108H probably benign Het
Tln1 A T 4: 43,551,018 (GRCm39) F409L probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Ttc23 G A 7: 67,319,904 (GRCm39) R187Q probably benign Het
Ttl T C 2: 128,923,977 (GRCm39) V230A probably benign Het
Ube2u G A 4: 100,338,843 (GRCm39) W36* probably null Het
Ube4a A T 9: 44,857,830 (GRCm39) probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc45a A G 7: 79,982,728 (GRCm39) I399T possibly damaging Het
Utp25 C T 1: 192,812,445 (GRCm39) R5Q possibly damaging Het
Wdr59 A C 8: 112,193,419 (GRCm39) probably null Het
Zfp24 A G 18: 24,151,172 (GRCm39) probably benign Het
Zfp777 A T 6: 48,019,041 (GRCm39) W342R probably damaging Het
Zfp979 A T 4: 147,697,913 (GRCm39) C265* probably null Het
Zzef1 T A 11: 72,804,157 (GRCm39) L2633Q probably damaging Het
Other mutations in Slc16a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Slc16a3 APN 11 120,847,532 (GRCm39) nonsense probably null
IGL01943:Slc16a3 APN 11 120,847,709 (GRCm39) splice site probably null
IGL01967:Slc16a3 APN 11 120,847,864 (GRCm39) missense probably damaging 0.99
IGL01970:Slc16a3 APN 11 120,847,864 (GRCm39) missense probably damaging 0.99
IGL02189:Slc16a3 APN 11 120,847,597 (GRCm39) missense probably benign 0.01
PIT4131001:Slc16a3 UTSW 11 120,846,172 (GRCm39) missense probably damaging 1.00
R0010:Slc16a3 UTSW 11 120,847,531 (GRCm39) missense probably benign 0.00
R0466:Slc16a3 UTSW 11 120,848,878 (GRCm39) missense possibly damaging 0.77
R3967:Slc16a3 UTSW 11 120,846,251 (GRCm39) missense possibly damaging 0.63
R4913:Slc16a3 UTSW 11 120,848,794 (GRCm39) missense probably benign
R5826:Slc16a3 UTSW 11 120,847,756 (GRCm39) missense probably benign
R5863:Slc16a3 UTSW 11 120,848,779 (GRCm39) missense probably benign
R6019:Slc16a3 UTSW 11 120,847,931 (GRCm39) splice site probably null
R7503:Slc16a3 UTSW 11 120,847,853 (GRCm39) missense probably damaging 1.00
R9679:Slc16a3 UTSW 11 120,847,223 (GRCm39) missense probably damaging 1.00
X0022:Slc16a3 UTSW 11 120,847,528 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGCACTAAGGACCTGACACC -3'
(R):5'- TAAATGGGTCTCGACGTCCAAG -3'

Sequencing Primer
(F):5'- AGCACCCCTGTTAGGCTGAG -3'
(R):5'- TCGACGTCCAAGCCCTCAG -3'
Posted On 2015-07-21