Incidental Mutation 'IGL03392:Slc13a5'
ID 421111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc13a5
Ensembl Gene ENSMUSG00000020805
Gene Name solute carrier family 13 (sodium-dependent citrate transporter), member 5
Synonyms Nact, Indy, NaC2/NaCT, mINDY
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03392
Quality Score
Status
Chromosome 11
Chromosomal Location 72132815-72158048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72136004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 469 (T469I)
Ref Sequence ENSEMBL: ENSMUSP00000146762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021161] [ENSMUST00000137701] [ENSMUST00000208056] [ENSMUST00000208912]
AlphaFold Q67BT3
Predicted Effect probably damaging
Transcript: ENSMUST00000021161
AA Change: T512I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021161
Gene: ENSMUSG00000020805
AA Change: T512I

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 benign
Transcript: ENSMUST00000137701
SMART Domains Protein: ENSMUSP00000119417
Gene: ENSMUSG00000020805

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 7 115 1.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208056
AA Change: T495I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208912
AA Change: T469I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fer A G 17: 64,298,637 (GRCm39) I529V probably damaging Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Ipo5 T A 14: 121,180,099 (GRCm39) D844E probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or4f59 T A 2: 111,873,321 (GRCm39) N19Y probably benign Het
Or51ai2 T C 7: 103,587,232 (GRCm39) V215A probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Pus7l T C 15: 94,434,449 (GRCm39) D339G probably damaging Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P probably damaging Het
Other mutations in Slc13a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Slc13a5 APN 11 72,149,780 (GRCm39) splice site probably null
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
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
Posted On 2016-08-02