Incidental Mutation 'IGL01132:Slc5a12'
ID50591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a12
Ensembl Gene ENSMUSG00000041644
Gene Namesolute carrier family 5 (sodium/glucose cotransporter), member 12
SynonymsSMCT2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL01132
Quality Score
Status
Chromosome2
Chromosomal Location110597298-110647779 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110597822 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000106655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045972] [ENSMUST00000111026]
Predicted Effect probably damaging
Transcript: ENSMUST00000045972
AA Change: V74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: V74A

DomainStartEndE-ValueType
Pfam:SSF 41 449 6.5e-43 PFAM
transmembrane domain 507 529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099624
Predicted Effect probably damaging
Transcript: ENSMUST00000111026
AA Change: V74A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: V74A

DomainStartEndE-ValueType
Pfam:SSF 41 445 6.2e-48 PFAM
transmembrane domain 503 525 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138497
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adcy6 T C 15: 98,597,851 N619S probably benign Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aldh1a7 T C 19: 20,727,040 H30R possibly damaging Het
Birc6 T C 17: 74,603,060 S1483P probably damaging Het
Cd209e T C 8: 3,851,274 T127A probably benign Het
Clmn T A 12: 104,774,551 probably null Het
Dcc A T 18: 71,682,174 Y376* probably null Het
Dscaml1 C T 9: 45,752,328 R1950* probably null Het
Eml2 A T 7: 19,200,539 S388C probably damaging Het
Ext2 C T 2: 93,791,073 M370I probably benign Het
Foxo1 C T 3: 52,345,159 R248W probably damaging Het
Gan T A 8: 117,196,444 probably benign Het
Klra1 A T 6: 130,364,274 C245* probably null Het
Myh10 A T 11: 68,768,268 M491L possibly damaging Het
Myrf A G 19: 10,223,205 Y343H probably damaging Het
Olfr1084 A T 2: 86,639,166 C181S probably benign Het
Olfr790 T C 10: 129,501,646 V254A probably damaging Het
Olfr859 G A 9: 19,808,654 S112N probably damaging Het
Oplah C T 15: 76,300,957 S852N probably benign Het
Prag1 T C 8: 36,146,357 V1021A probably damaging Het
Rassf4 C T 6: 116,659,607 probably benign Het
Sf3b3 T C 8: 110,842,781 I102V probably benign Het
Slc27a4 T C 2: 29,804,302 I46T probably benign Het
St5 A G 7: 109,570,005 probably null Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tcte1 G T 17: 45,539,862 A355S possibly damaging Het
Other mutations in Slc5a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Slc5a12 APN 2 110620373 nonsense probably null
IGL01830:Slc5a12 APN 2 110597806 missense probably damaging 1.00
IGL02456:Slc5a12 APN 2 110616834 splice site probably benign
IGL02619:Slc5a12 APN 2 110640856 missense probably benign 0.00
IGL02832:Slc5a12 APN 2 110640815 missense probably benign
IGL02890:Slc5a12 APN 2 110624133 splice site probably benign
IGL03058:Slc5a12 APN 2 110640792 missense probably benign 0.23
R0607:Slc5a12 UTSW 2 110632743 missense probably benign 0.30
R1342:Slc5a12 UTSW 2 110617090 splice site probably null
R1532:Slc5a12 UTSW 2 110610138 missense possibly damaging 0.64
R1992:Slc5a12 UTSW 2 110621744 missense probably benign 0.04
R2354:Slc5a12 UTSW 2 110609432 missense probably damaging 0.97
R3830:Slc5a12 UTSW 2 110632736 nonsense probably null
R4728:Slc5a12 UTSW 2 110644424 nonsense probably null
R4822:Slc5a12 UTSW 2 110621740 missense possibly damaging 0.90
R4937:Slc5a12 UTSW 2 110620408 missense probably damaging 1.00
R5860:Slc5a12 UTSW 2 110597624 missense probably benign 0.30
R6075:Slc5a12 UTSW 2 110616747 missense probably damaging 1.00
R6168:Slc5a12 UTSW 2 110616744 missense probably damaging 1.00
R6853:Slc5a12 UTSW 2 110624194 missense probably benign 0.37
R6870:Slc5a12 UTSW 2 110641810 missense probably damaging 0.99
R7014:Slc5a12 UTSW 2 110644364 missense probably benign 0.00
R7135:Slc5a12 UTSW 2 110616714 missense possibly damaging 0.86
Posted On2013-06-21