Incidental Mutation 'R7340:Slc13a3'
ID 569747
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 045430-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7340 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165247215-165315117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165272210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 278 (I278V)
Ref Sequence ENSEMBL: ENSMUSP00000029208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
AlphaFold Q91Y63
Predicted Effect probably benign
Transcript: ENSMUST00000029208
AA Change: I278V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: I278V

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 benign
Transcript: ENSMUST00000109279
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459

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
Meta Mutation Damage Score 0.1445 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Adam30 A T 3: 98,069,637 (GRCm39) N490I probably benign Het
Ankrd55 A T 13: 112,492,497 (GRCm39) I223F probably damaging Het
Ano8 T A 8: 71,935,655 (GRCm39) E321V probably damaging Het
Apc2 A G 10: 80,149,316 (GRCm39) K1457E probably benign Het
Asb15 T A 6: 24,558,513 (GRCm39) V38E probably benign Het
Atp4a T C 7: 30,416,155 (GRCm39) S417P possibly damaging Het
AY358078 A G 14: 52,063,716 (GRCm39) N454S probably damaging Het
Cables2 A G 2: 179,903,450 (GRCm39) Y245H Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camsap3 G A 8: 3,637,960 (GRCm39) probably null Het
Ccdc178 A T 18: 22,150,518 (GRCm39) V705E probably benign Het
Ccdc47 T C 11: 106,091,799 (GRCm39) Q472R possibly damaging Het
Ccdc62 A G 5: 124,089,283 (GRCm39) D307G probably damaging Het
Cdcp3 A G 7: 130,879,344 (GRCm39) T1788A unknown Het
Cdh23 A G 10: 60,366,775 (GRCm39) I235T probably benign Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap65 T C 1: 74,960,742 (GRCm39) N743D probably benign Het
Cimap1b T A 15: 89,262,610 (GRCm39) T116S probably benign Het
Clec16a A G 16: 10,398,827 (GRCm39) N329S probably null Het
Col25a1 A G 3: 130,340,006 (GRCm39) probably null Het
Daam1 T G 12: 72,035,713 (GRCm39) D969E probably benign Het
Dntt A C 19: 41,047,004 (GRCm39) probably null Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Dst T A 1: 34,229,810 (GRCm39) Y2468N probably benign Het
Exosc9 A G 3: 36,615,297 (GRCm39) T262A possibly damaging Het
Exph5 G A 9: 53,288,309 (GRCm39) A1797T probably damaging Het
Fbp2 A T 13: 62,985,061 (GRCm39) Y287N probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fus T A 7: 127,581,123 (GRCm39) probably null Het
Galnt9 T A 5: 110,762,054 (GRCm39) N397K probably damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gga1 A G 15: 78,775,651 (GRCm39) T369A probably benign Het
Gp1ba T C 11: 70,531,119 (GRCm39) I295T unknown Het
Hk2 T C 6: 82,705,873 (GRCm39) E810G probably benign Het
Igsf10 A G 3: 59,233,189 (GRCm39) V1848A probably damaging Het
Insrr G A 3: 87,721,623 (GRCm39) probably null Het
Ip6k3 T A 17: 27,367,504 (GRCm39) M231L probably benign Het
Itgb8 T C 12: 119,155,939 (GRCm39) N171S probably benign Het
Ldlrad3 T C 2: 101,897,184 (GRCm39) probably null Het
Ltbp1 T A 17: 75,634,223 (GRCm39) C886* probably null Het
Mettl13 T C 1: 162,366,547 (GRCm39) D444G probably benign Het
Mns1 A G 9: 72,356,025 (GRCm39) Y224C probably damaging Het
Mri1 C T 8: 84,983,525 (GRCm39) R122Q probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo5c A C 9: 75,196,423 (GRCm39) K1290Q probably benign Het
Nlrp12 T G 7: 3,281,755 (GRCm39) Q842H possibly damaging Het
Oga G A 19: 45,755,895 (GRCm39) Q583* probably null Het
Or14c44 T C 7: 86,061,957 (GRCm39) L129P possibly damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Or2t1 A T 14: 14,328,401 (GRCm38) T97S possibly damaging Het
Or5d39 T C 2: 87,979,620 (GRCm39) T248A possibly damaging Het
Otoa A G 7: 120,729,288 (GRCm39) T554A probably benign Het
Per1 A G 11: 68,994,008 (GRCm39) D438G probably damaging Het
Phactr3 G A 2: 177,975,854 (GRCm39) R533H probably damaging Het
Phykpl T C 11: 51,490,370 (GRCm39) F417S probably damaging Het
Pole A T 5: 110,482,330 (GRCm39) T2057S probably benign Het
Polq A G 16: 36,881,288 (GRCm39) T1151A probably benign Het
Polr1g T C 7: 19,093,073 (GRCm39) T36A probably benign Het
Rbm26 A T 14: 105,389,976 (GRCm39) V216E possibly damaging Het
Ryk T C 9: 102,775,737 (GRCm39) I449T probably damaging Het
Sap25 A G 5: 137,640,935 (GRCm39) T225A probably benign Het
Sart3 A G 5: 113,882,728 (GRCm39) M864T probably benign Het
Sec31b T C 19: 44,517,161 (GRCm39) S280G probably benign Het
Sema4d A T 13: 51,877,598 (GRCm39) I78N probably damaging Het
Sgip1 G C 4: 102,778,661 (GRCm39) R419S unknown Het
Slc2a5 A G 4: 150,224,439 (GRCm39) D312G probably benign Het
Slc39a2 A T 14: 52,131,660 (GRCm39) Q77L possibly damaging Het
Srbd1 A T 17: 86,443,782 (GRCm39) V148E probably benign Het
Syngr2 A G 11: 117,703,322 (GRCm39) E46G probably damaging Het
Taok1 A G 11: 77,470,643 (GRCm39) V54A possibly damaging Het
Tas2r106 T A 6: 131,655,185 (GRCm39) H222L probably damaging Het
Tcaf3 A G 6: 42,566,848 (GRCm39) I747T probably benign Het
Tmem151b G T 17: 45,856,195 (GRCm39) P415Q probably benign Het
Tmf1 T C 6: 97,145,061 (GRCm39) D659G possibly damaging Het
Tnn G T 1: 159,973,592 (GRCm39) D258E probably damaging Het
Traj33 A G 14: 54,422,862 (GRCm39) I16V unknown Het
Ttll13 G T 7: 79,906,772 (GRCm39) C480F probably damaging Het
Ttn T C 2: 76,714,415 (GRCm39) N8137S unknown Het
Vmn1r85 T C 7: 12,819,073 (GRCm39) N24D probably damaging Het
Wdr81 T C 11: 75,335,525 (GRCm39) Q649R probably null Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zc3h6 A G 2: 128,835,110 (GRCm39) D82G 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
R4971:Slc13a3 UTSW 2 165,290,619 (GRCm39) missense probably damaging 0.99
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
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'- ACTATGTCTTGGTTGGACACC -3'
(R):5'- GAAAGGTGCCTTCTGTCTAGG -3'

Sequencing Primer
(F):5'- TGGTCCAAACTATCCTAAAAACCAG -3'
(R):5'- CCTTCTGTCTAGGGGGAAGGATC -3'
Posted On 2019-09-13