Incidental Mutation 'IGL01943:Slc16a3'
ID180916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc16a3
Ensembl Gene ENSMUSG00000025161
Gene Namesolute carrier family 16 (monocarboxylic acid transporters), member 3
SynonymsMCT4, monocarboxylate transporter 4, MCT3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01943
Quality Score
Status
Chromosome11
Chromosomal Location120948480-120960868 bp(+) (GRCm38)
Type of Mutationunclassified (4866 bp from exon)
DNA Base Change (assembly) T to C at 120956883 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000070721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575] [ENSMUST00000070653] [ENSMUST00000100130] [ENSMUST00000129473] [ENSMUST00000133029] [ENSMUST00000154187] [ENSMUST00000168579]
Predicted Effect probably null
Transcript: ENSMUST00000018274
SMART Domains Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 3.7e-18 PFAM
Pfam:Pkinase 9 277 1.8e-28 PFAM
low complexity region 299 314 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000070575
SMART Domains Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 273 1.6e-18 PFAM
Pfam:Pkinase 9 280 2.8e-41 PFAM
low complexity region 299 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070653
AA Change: V299A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000068854
Gene: ENSMUSG00000025161
AA Change: V299A

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
AA Change: V299A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097706
Gene: ENSMUSG00000025161
AA Change: V299A

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
AA Change: V299A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161
AA Change: V299A

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Bcam C T 7: 19,765,498 R200H probably damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Krt76 T A 15: 101,889,045 D293V probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr1449 T C 19: 12,935,674 L312S probably benign Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pomgnt2 G T 9: 121,982,470 T415N probably benign Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Stat4 C T 1: 52,096,855 T441I possibly damaging Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign Het
Other mutations in Slc16a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Slc16a3 APN 11 120956706 nonsense probably null
IGL01967:Slc16a3 APN 11 120957038 missense probably damaging 0.99
IGL01970:Slc16a3 APN 11 120957038 missense probably damaging 0.99
IGL02189:Slc16a3 APN 11 120956771 missense probably benign 0.01
PIT4131001:Slc16a3 UTSW 11 120955346 missense probably damaging 1.00
R0010:Slc16a3 UTSW 11 120956705 missense probably benign 0.00
R0466:Slc16a3 UTSW 11 120958052 missense possibly damaging 0.77
R3967:Slc16a3 UTSW 11 120955425 missense possibly damaging 0.63
R4471:Slc16a3 UTSW 11 120955948 splice site probably benign
R4913:Slc16a3 UTSW 11 120957968 missense probably benign
R5826:Slc16a3 UTSW 11 120956930 missense probably benign
R5863:Slc16a3 UTSW 11 120957953 missense probably benign
R6019:Slc16a3 UTSW 11 120957105 unclassified probably null
R7503:Slc16a3 UTSW 11 120957027 missense probably damaging 1.00
X0022:Slc16a3 UTSW 11 120956702 missense probably benign 0.04
Posted On2014-05-07