Incidental Mutation 'R6665:Slc13a5'
ID 526944
Institutional Source Beutler Lab
Gene Symbol Slc13a5
Ensembl Gene ENSMUSG00000020805
Gene Name solute carrier family 13 (sodium-dependent citrate transporter), member 5
Synonyms Nact, Indy, NaC2/NaCT, mINDY
MMRRC Submission 044785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6665 (G1)
Quality Score 175.009
Status Validated
Chromosome 11
Chromosomal Location 72132815-72158048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72151186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 131 (V131I)
Ref Sequence ENSEMBL: ENSMUSP00000119417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021161] [ENSMUST00000137701] [ENSMUST00000140167] [ENSMUST00000208056] [ENSMUST00000208912]
AlphaFold Q67BT3
Predicted Effect probably benign
Transcript: ENSMUST00000021161
AA Change: V131I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: V131I

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 8 558 1.3e-121 PFAM
Pfam:CitMHS 13 172 1.6e-14 PFAM
Pfam:CitMHS 202 498 6.4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137701
AA Change: V131I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: V131I

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 7 115 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140167
AA Change: V94I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805
AA Change: V94I

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 6 102 7.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207990
Predicted Effect probably benign
Transcript: ENSMUST00000208056
Predicted Effect probably benign
Transcript: ENSMUST00000208912
AA Change: V88I

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a null allele display resistance to diet and age induced obesity, increased energy expenditure, improved glucose tolerance, and increased hepatic lipid oxidation. Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,815,775 (GRCm39) probably null Het
Adamts16 T G 13: 70,927,689 (GRCm39) K517Q probably damaging Het
Atp9b A C 18: 80,960,950 (GRCm39) V87G probably benign Het
Avil A G 10: 126,856,394 (GRCm39) K808E probably damaging Het
Bin2 T C 15: 100,554,676 (GRCm39) E49G probably damaging Het
Ccdc146 T C 5: 21,508,092 (GRCm39) Y652C probably damaging Het
Cd6 T C 19: 10,768,367 (GRCm39) N541D probably benign Het
Col28a1 A G 6: 8,062,277 (GRCm39) V671A probably benign Het
Dock6 C T 9: 21,751,208 (GRCm39) C355Y probably damaging Het
Dsc2 A G 18: 20,183,205 (GRCm39) F71S probably damaging Het
Dusp8 G A 7: 141,643,842 (GRCm39) P24S probably damaging Het
Dysf A G 6: 84,107,098 (GRCm39) Y1151C probably benign Het
Fhip2b A T 14: 70,823,078 (GRCm39) L659Q probably damaging Het
Frem2 T C 3: 53,562,077 (GRCm39) Y810C probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hexb T C 13: 97,315,893 (GRCm39) N380D probably benign Het
Ice1 T C 13: 70,751,592 (GRCm39) E1498G possibly damaging Het
Lrif1 T A 3: 106,642,659 (GRCm39) probably null Het
Myo9a G T 9: 59,779,155 (GRCm39) G1637V probably benign Het
Myod1 A T 7: 46,026,281 (GRCm39) H62L probably damaging Het
Myoz3 A C 18: 60,709,495 (GRCm39) L222R probably damaging Het
Naca T A 10: 127,884,227 (GRCm39) N2180K probably damaging Het
Or6c76 T C 10: 129,612,116 (GRCm39) F111S probably damaging Het
Pik3cb A G 9: 98,955,702 (GRCm39) V405A probably benign Het
Prkdc T C 16: 15,603,914 (GRCm39) probably null Het
Rab32 T C 10: 10,433,846 (GRCm39) probably benign Het
Serpinb10 A C 1: 107,474,597 (GRCm39) N253T possibly damaging Het
Slc25a40 A G 5: 8,502,788 (GRCm39) N290S probably benign Het
Slc6a6 T C 6: 91,703,020 (GRCm39) V131A probably benign Het
Spef2 A T 15: 9,600,604 (GRCm39) probably null Het
Stxbp2 A G 8: 3,691,998 (GRCm39) M547V probably benign Het
Tmem247 A T 17: 87,225,998 (GRCm39) Q146L probably benign Het
Vmn2r67 T C 7: 84,785,900 (GRCm39) I702V probably benign Het
Zmynd15 T C 11: 70,355,636 (GRCm39) S436P probably benign Het
Other mutations in Slc13a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Slc13a5 APN 11 72,149,780 (GRCm39) splice site probably null
IGL03392:Slc13a5 APN 11 72,136,004 (GRCm39) missense probably damaging 1.00
Punk UTSW 11 72,152,902 (GRCm39) missense probably damaging 1.00
punk2 UTSW 11 72,144,217 (GRCm39) missense possibly damaging 0.65
R0018:Slc13a5 UTSW 11 72,157,301 (GRCm39) missense probably benign
R0018:Slc13a5 UTSW 11 72,157,301 (GRCm39) missense probably benign
R0042:Slc13a5 UTSW 11 72,149,940 (GRCm39) missense probably benign 0.31
R0194:Slc13a5 UTSW 11 72,152,956 (GRCm39) missense possibly damaging 0.95
R0194:Slc13a5 UTSW 11 72,136,059 (GRCm39) missense probably benign 0.22
R0234:Slc13a5 UTSW 11 72,141,626 (GRCm39) missense probably damaging 0.98
R1499:Slc13a5 UTSW 11 72,141,557 (GRCm39) missense probably damaging 0.97
R1655:Slc13a5 UTSW 11 72,148,204 (GRCm39) missense probably benign 0.00
R1728:Slc13a5 UTSW 11 72,157,285 (GRCm39) splice site probably null
R1818:Slc13a5 UTSW 11 72,144,169 (GRCm39) missense probably benign 0.02
R2304:Slc13a5 UTSW 11 72,149,865 (GRCm39) missense probably damaging 1.00
R2352:Slc13a5 UTSW 11 72,143,147 (GRCm39) missense probably benign 0.06
R2408:Slc13a5 UTSW 11 72,152,902 (GRCm39) missense probably damaging 1.00
R2919:Slc13a5 UTSW 11 72,138,617 (GRCm39) missense possibly damaging 0.92
R2920:Slc13a5 UTSW 11 72,138,617 (GRCm39) missense possibly damaging 0.92
R3103:Slc13a5 UTSW 11 72,148,214 (GRCm39) missense probably damaging 1.00
R4772:Slc13a5 UTSW 11 72,141,672 (GRCm39) critical splice acceptor site probably null
R4906:Slc13a5 UTSW 11 72,148,244 (GRCm39) missense probably damaging 0.99
R5385:Slc13a5 UTSW 11 72,149,903 (GRCm39) missense probably benign 0.01
R5562:Slc13a5 UTSW 11 72,152,865 (GRCm39) missense probably damaging 0.99
R5878:Slc13a5 UTSW 11 72,144,217 (GRCm39) missense possibly damaging 0.65
R6173:Slc13a5 UTSW 11 72,144,023 (GRCm39) missense probably benign 0.05
R7317:Slc13a5 UTSW 11 72,135,953 (GRCm39) missense probably damaging 1.00
R7338:Slc13a5 UTSW 11 72,157,310 (GRCm39) missense probably benign
R7908:Slc13a5 UTSW 11 72,149,890 (GRCm39) missense probably benign 0.00
R8038:Slc13a5 UTSW 11 72,144,196 (GRCm39) missense probably benign 0.31
R8420:Slc13a5 UTSW 11 72,148,210 (GRCm39) missense probably damaging 1.00
R8679:Slc13a5 UTSW 11 72,149,919 (GRCm39) missense probably benign
R9017:Slc13a5 UTSW 11 72,138,588 (GRCm39) missense probably damaging 1.00
R9629:Slc13a5 UTSW 11 72,138,578 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCTGCAAAATCTAATCCAGGG -3'
(R):5'- CACTCAGAGTTGTGCTTTCTG -3'

Sequencing Primer
(F):5'- TGCAAAATCTAATCCAGGGTGCAC -3'
(R):5'- CACTCAGAGTTGTGCTTTCTGATCAG -3'
Posted On 2018-07-23