Incidental Mutation 'R4971:Slc13a3'
ID 384429
Institutional Source Beutler Lab
Gene Symbol Slc13a3
Ensembl Gene ENSMUSG00000018459
Gene Name solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
Synonyms SDCT2, NaDC3, NaDC-3
MMRRC Submission 042566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4971 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165247215-165315117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165290619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 67 (I67T)
Ref Sequence ENSEMBL: ENSMUSP00000104902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
AlphaFold Q91Y63
Predicted Effect possibly damaging
Transcript: ENSMUST00000029208
AA Change: I67T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: I67T

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 9 571 2.6e-110 PFAM
Pfam:CitMHS 43 167 1.4e-15 PFAM
Pfam:CitMHS 221 486 5.3e-18 PFAM
low complexity region 578 596 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109279
AA Change: I67T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: I67T

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 9 270 6.7e-49 PFAM
Pfam:Na_sulph_symp 265 529 1.9e-51 PFAM
low complexity region 536 554 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152284
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,190 (GRCm39) F1147L probably damaging Het
Abca2 T C 2: 25,332,006 (GRCm39) S1373P probably damaging Het
Abca9 A T 11: 110,042,874 (GRCm39) S392T probably benign Het
Abcd2 T C 15: 91,047,313 (GRCm39) D580G probably benign Het
Actl9 T A 17: 33,652,882 (GRCm39) L314H probably damaging Het
Adamtsl1 T C 4: 86,255,168 (GRCm39) F746L probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Cdkl3 T C 11: 51,901,995 (GRCm39) V68A possibly damaging Het
Cnot1 A G 8: 96,448,254 (GRCm39) F2266S probably damaging Het
Colq T C 14: 31,267,034 (GRCm39) R159G probably damaging Het
Ctse A T 1: 131,592,130 (GRCm39) D152V probably damaging Het
Cul7 G T 17: 46,970,045 (GRCm39) M1011I probably benign Het
Cyb5r4 G T 9: 86,939,224 (GRCm39) V336L possibly damaging Het
Dync2h1 A T 9: 7,131,949 (GRCm39) H1619Q probably benign Het
Eif2ak1 A G 5: 143,818,986 (GRCm39) K216E probably damaging Het
F5 A T 1: 164,021,755 (GRCm39) H1410L probably benign Het
Frem2 T C 3: 53,446,604 (GRCm39) Y2388C probably damaging Het
Fsip2 C T 2: 82,816,222 (GRCm39) T3985M probably benign Het
Gak T C 5: 108,744,672 (GRCm39) Y535C probably damaging Het
Gzmc G T 14: 56,469,826 (GRCm39) P158Q probably damaging Het
Hook3 A G 8: 26,572,607 (GRCm39) Y135H probably benign Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A T 6: 125,020,961 (GRCm39) M28L probably benign Het
Irs3 T A 5: 137,642,754 (GRCm39) D228V probably damaging Het
Jade1 T A 3: 41,555,836 (GRCm39) I301N probably damaging Het
Kif13b T A 14: 64,995,011 (GRCm39) M921K possibly damaging Het
Kmt2c A G 5: 25,515,870 (GRCm39) S2658P probably benign Het
Map3k4 A G 17: 12,468,382 (GRCm39) probably null Het
Map4k5 C T 12: 69,899,493 (GRCm39) V53I possibly damaging Het
Mdn1 T C 4: 32,739,827 (GRCm39) S3694P probably damaging Het
Mroh7 A G 4: 106,548,749 (GRCm39) V1038A probably benign Het
Muc5ac T C 7: 141,370,015 (GRCm39) V3185A possibly damaging Het
Mup5 T A 4: 61,751,297 (GRCm39) N117I probably benign Het
Myo19 T A 11: 84,783,023 (GRCm39) M179K probably damaging Het
Myo1c A G 11: 75,562,414 (GRCm39) Y902C probably damaging Het
Nf1 T A 11: 79,335,469 (GRCm39) I977K probably damaging Het
Nos1 T C 5: 118,081,899 (GRCm39) V1240A probably benign Het
Nr3c1 T C 18: 39,619,930 (GRCm39) D119G probably damaging Het
Oga C A 19: 45,758,485 (GRCm39) probably null Het
Or4c107 A T 2: 88,788,863 (GRCm39) N18Y probably damaging Het
Pdlim2 A G 14: 70,405,208 (GRCm39) V219A probably damaging Het
Pira13 T A 7: 3,825,805 (GRCm39) M355L probably benign Het
Polr1g T C 7: 19,091,487 (GRCm39) N207D probably benign Het
Prdx1 T C 4: 116,549,128 (GRCm39) probably null Het
Rbfox1 C T 16: 7,111,952 (GRCm39) R173C probably damaging Het
Rbp3 T A 14: 33,676,427 (GRCm39) V125D probably damaging Het
Resf1 T C 6: 149,227,097 (GRCm39) probably benign Het
Rhot1 T A 11: 80,124,300 (GRCm39) I154K probably damaging Het
Runx1t1 C T 4: 13,837,978 (GRCm39) R129C probably damaging Het
Setbp1 A G 18: 78,901,382 (GRCm39) S762P probably benign Het
Tbc1d2b A T 9: 90,100,923 (GRCm39) M689K probably benign Het
Top2a T C 11: 98,884,667 (GRCm39) Y1517C probably damaging Het
Txndc2 A T 17: 65,945,849 (GRCm39) N109K probably damaging Het
Tyk2 A G 9: 21,031,797 (GRCm39) probably null Het
Wdfy3 A T 5: 102,096,838 (GRCm39) L320* probably null Het
Zfp456 T C 13: 67,514,995 (GRCm39) E237G probably benign Het
Zscan10 A G 17: 23,826,147 (GRCm39) E103G possibly damaging Het
Other mutations in Slc13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Slc13a3 APN 2 165,253,843 (GRCm39) missense probably damaging 1.00
IGL00326:Slc13a3 APN 2 165,315,017 (GRCm39) missense possibly damaging 0.89
IGL01308:Slc13a3 APN 2 165,248,700 (GRCm39) missense probably damaging 0.99
IGL01668:Slc13a3 APN 2 165,272,212 (GRCm39) missense probably damaging 1.00
IGL02435:Slc13a3 APN 2 165,250,860 (GRCm39) missense possibly damaging 0.95
IGL02551:Slc13a3 APN 2 165,266,493 (GRCm39) missense probably damaging 1.00
IGL02716:Slc13a3 APN 2 165,248,635 (GRCm39) missense unknown
IGL03107:Slc13a3 APN 2 165,279,227 (GRCm39) missense probably benign 0.00
R0114:Slc13a3 UTSW 2 165,266,501 (GRCm39) missense probably damaging 1.00
R0624:Slc13a3 UTSW 2 165,253,807 (GRCm39) missense probably damaging 1.00
R1051:Slc13a3 UTSW 2 165,250,740 (GRCm39) critical splice donor site probably null
R1780:Slc13a3 UTSW 2 165,248,619 (GRCm39) missense unknown
R1782:Slc13a3 UTSW 2 165,287,439 (GRCm39) missense probably benign 0.01
R1994:Slc13a3 UTSW 2 165,275,984 (GRCm39) missense possibly damaging 0.90
R4739:Slc13a3 UTSW 2 165,272,209 (GRCm39) missense possibly damaging 0.91
R5091:Slc13a3 UTSW 2 165,262,000 (GRCm39) missense probably benign 0.11
R5093:Slc13a3 UTSW 2 165,253,816 (GRCm39) missense probably damaging 1.00
R5826:Slc13a3 UTSW 2 165,250,876 (GRCm39) missense probably benign 0.05
R5894:Slc13a3 UTSW 2 165,266,543 (GRCm39) missense probably benign 0.00
R6239:Slc13a3 UTSW 2 165,248,617 (GRCm39) missense unknown
R6394:Slc13a3 UTSW 2 165,276,017 (GRCm39) missense probably damaging 1.00
R6453:Slc13a3 UTSW 2 165,253,867 (GRCm39) missense possibly damaging 0.94
R6463:Slc13a3 UTSW 2 165,287,573 (GRCm39) missense probably damaging 1.00
R6480:Slc13a3 UTSW 2 165,250,818 (GRCm39) missense probably damaging 1.00
R6525:Slc13a3 UTSW 2 165,248,667 (GRCm39) missense unknown
R6879:Slc13a3 UTSW 2 165,272,221 (GRCm39) missense probably damaging 1.00
R7278:Slc13a3 UTSW 2 165,287,448 (GRCm39) missense possibly damaging 0.87
R7340:Slc13a3 UTSW 2 165,272,210 (GRCm39) missense probably benign 0.00
R7404:Slc13a3 UTSW 2 165,275,984 (GRCm39) missense possibly damaging 0.90
R7452:Slc13a3 UTSW 2 165,269,034 (GRCm39) missense probably benign 0.03
R7585:Slc13a3 UTSW 2 165,272,242 (GRCm39) missense probably benign 0.00
R7966:Slc13a3 UTSW 2 165,272,155 (GRCm39) missense probably benign 0.08
R8206:Slc13a3 UTSW 2 165,248,745 (GRCm39) missense probably damaging 1.00
R8481:Slc13a3 UTSW 2 165,275,958 (GRCm39) missense probably damaging 0.99
R8504:Slc13a3 UTSW 2 165,275,999 (GRCm39) missense probably damaging 0.99
R9488:Slc13a3 UTSW 2 165,250,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGAGCTTTGCCTTCCACC -3'
(R):5'- GATGATATGCCCACTGCTTCC -3'

Sequencing Primer
(F):5'- TCTCACCTTGCAGGCTGGAC -3'
(R):5'- ACTGCTTCCCTGAGCGTGAG -3'
Posted On 2016-04-27