Incidental Mutation 'R2408:Slc13a5'
ID 248103
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 040374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2408 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72132815-72158048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72152902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 60 (S60P)
Ref Sequence ENSEMBL: ENSMUSP00000119417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021161] [ENSMUST00000137701] [ENSMUST00000140167] [ENSMUST00000208056] [ENSMUST00000208912]
AlphaFold Q67BT3
Predicted Effect probably damaging
Transcript: ENSMUST00000021161
AA Change: S60P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: S60P

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: S60P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805
AA Change: S60P

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 7 115 1.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140167
SMART Domains Protein: ENSMUSP00000119822
Gene: ENSMUSG00000020805

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 6 102 7.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207990
Predicted Effect probably damaging
Transcript: ENSMUST00000208056
AA Change: S60P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000208912
Meta Mutation Damage Score 0.6301 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (33/34)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T G 8: 95,730,121 (GRCm39) L103V probably null Het
BC051076 C T 5: 88,111,684 (GRCm39) noncoding transcript Het
Ccdc191 A T 16: 43,751,561 (GRCm39) Q239L probably benign Het
Dennd4b G T 3: 90,178,882 (GRCm39) G538* probably null Het
Dipk1a T C 5: 108,062,291 (GRCm39) D78G possibly damaging Het
Dusp7 C T 9: 106,246,361 (GRCm39) A122V probably benign Het
Exd2 T G 12: 80,531,015 (GRCm39) probably benign Het
Gm10782 C A 13: 56,510,944 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hhipl1 T A 12: 108,284,806 (GRCm39) D386E probably benign Het
Hnf1a C T 5: 115,098,070 (GRCm39) probably null Het
Ifi204 A G 1: 173,583,198 (GRCm39) F340S possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Med26 T C 8: 73,249,476 (GRCm39) D541G probably benign Het
Mgam T A 6: 40,663,456 (GRCm39) L1218Q probably damaging Het
Msh5 T C 17: 35,264,095 (GRCm39) D136G probably damaging Het
Nbl1 C T 4: 138,810,843 (GRCm39) C117Y probably damaging Het
Niban2 A G 2: 32,813,482 (GRCm39) Y565C probably damaging Het
Noct T C 3: 51,132,710 (GRCm39) probably null Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Prmt2 A T 10: 76,044,301 (GRCm39) M417K probably damaging Het
Rptor A G 11: 119,748,277 (GRCm39) E3G probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Sycp1 T C 3: 102,832,575 (GRCm39) Y197C probably damaging Het
Tmem222 T C 4: 132,998,335 (GRCm39) H73R possibly damaging Het
Trmt1l G A 1: 151,315,267 (GRCm39) G151D possibly damaging Het
Ttc16 A G 2: 32,658,020 (GRCm39) F409L probably benign Het
Ubap2l T C 3: 89,916,439 (GRCm39) Q925R probably null Het
Ucn3 T G 13: 3,991,413 (GRCm39) I80L probably benign Het
Vwa3a T C 7: 120,372,517 (GRCm39) S302P probably benign Het
Zfp804b A T 5: 7,229,410 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,848,937 (GRCm39) E144G possibly damaging 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
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
R6665:Slc13a5 UTSW 11 72,151,186 (GRCm39) missense probably damaging 0.99
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'- TCCTTGAGGGATCCACTTCTGG -3'
(R):5'- ACAACCAGGCTCTTCTTGG -3'

Sequencing Primer
(F):5'- GGATTTCTGTAGCTATCCCTAGGC -3'
(R):5'- TGTCCTGAGCCTTGGAAAGC -3'
Posted On 2014-11-11