Incidental Mutation 'IGL01337:Slc5a12'
ID74656
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: 0.103) question?
Stock #IGL01337
Quality Score
Status
Chromosome2
Chromosomal Location110597298-110647779 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 110620373 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 304 (C304*)
Ref Sequence ENSEMBL: ENSMUSP00000106655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045972] [ENSMUST00000111026]
Predicted Effect probably null
Transcript: ENSMUST00000045972
AA Change: C304*
SMART Domains Protein: ENSMUSP00000047340
Gene: ENSMUSG00000041644
AA Change: C304*

DomainStartEndE-ValueType
Pfam:SSF 41 449 6.5e-43 PFAM
transmembrane domain 507 529 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111026
AA Change: C304*
SMART Domains Protein: ENSMUSP00000106655
Gene: ENSMUSG00000041644
AA Change: C304*

DomainStartEndE-ValueType
Pfam:SSF 41 445 6.2e-48 PFAM
transmembrane domain 503 525 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146664
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,668,570 Y1025H probably damaging Het
Adarb2 T C 13: 8,570,246 L256P probably benign Het
Arsj A G 3: 126,365,114 Y114C probably damaging Het
Bdp1 G A 13: 100,056,192 P1378L probably benign Het
Clca2 T C 3: 145,095,178 Y138C probably damaging Het
Dsp G A 13: 38,192,687 D1483N probably benign Het
Etl4 T C 2: 20,785,387 S617P probably benign Het
Fbxo34 T C 14: 47,530,217 S345P probably benign Het
Gm5420 A G 10: 21,691,615 noncoding transcript Het
Gpr182 T A 10: 127,750,786 I99F possibly damaging Het
Hectd1 A G 12: 51,802,274 I349T possibly damaging Het
Kifc5b A G 17: 26,924,744 T497A possibly damaging Het
Mllt3 A C 4: 87,840,820 D330E probably damaging Het
Mpp3 T C 11: 102,000,585 T576A probably benign Het
Mroh2b A G 15: 4,905,024 M126V probably benign Het
Naalad2 T G 9: 18,327,373 D644A probably damaging Het
Olfr1247 A G 2: 89,609,376 I242T probably damaging Het
Otof C A 5: 30,405,777 A242S possibly damaging Het
Otof T C 5: 30,419,512 D132G probably benign Het
Pdk4 T A 6: 5,491,869 M68L probably benign Het
Ptprf A G 4: 118,236,291 Y385H probably damaging Het
Rxrb A G 17: 34,036,631 N254S probably damaging Het
Samd5 T A 10: 9,629,024 Y162F probably benign Het
Sapcd2 A G 2: 25,376,479 *392W probably null Het
Senp6 T C 9: 80,136,510 Y635H probably damaging Het
Serpine1 C A 5: 137,069,331 V163L probably damaging Het
Slc15a1 T C 14: 121,460,679 E678G possibly damaging Het
Slc22a16 T C 10: 40,595,314 F494L possibly damaging Het
Spink1 G A 18: 43,737,151 probably benign Het
Star G A 8: 25,809,864 G78E probably damaging Het
Stx1a T C 5: 135,045,664 I203T probably damaging Het
Tap2 A G 17: 34,205,412 probably benign Het
Trim75 T C 8: 64,983,735 D21G possibly damaging Het
Vmn1r62 T A 7: 5,676,145 I275N probably damaging Het
Other mutations in Slc5a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Slc5a12 APN 2 110597822 missense probably damaging 1.00
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 On2013-10-07