Incidental Mutation 'IGL01668:Slc13a3'
ID103383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc13a3
Ensembl Gene ENSMUSG00000018459
Gene Namesolute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3
SynonymsSDCT2, NaDC-3, NaDC3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01668
Quality Score
Status
Chromosome2
Chromosomal Location165405028-165473230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 165430292 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Cysteine at position 277 (F277C)
Ref Sequence ENSEMBL: ENSMUSP00000029208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
Predicted Effect probably damaging
Transcript: ENSMUST00000029208
AA Change: F277C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: F277C

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
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik G A 7: 29,537,430 noncoding transcript Het
Ap3d1 A G 10: 80,719,159 V444A possibly damaging Het
BC022687 T C 12: 112,809,644 S86P probably damaging Het
Chd9 A T 8: 91,026,776 H1799L possibly damaging Het
Cic C T 7: 25,291,204 P1108S possibly damaging Het
Cldn16 T A 16: 26,482,546 Y201* probably null Het
Col6a6 C A 9: 105,709,271 R1850S probably damaging Het
Cryge A G 1: 65,048,698 Y151H probably damaging Het
Dhcr7 T A 7: 143,843,311 V180D probably damaging Het
Dmwd C T 7: 19,081,155 R577W probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm5901 C T 7: 105,377,564 R180C probably benign Het
Hook2 A T 8: 84,993,578 Y131F possibly damaging Het
Hsf1 T C 15: 76,496,962 probably null Het
Ighv1-62-3 A G 12: 115,460,993 probably benign Het
Ikbke T G 1: 131,256,938 D666A probably benign Het
Il1r1 C T 1: 40,313,329 T556I probably benign Het
Larp4 T C 15: 99,987,474 S69P probably damaging Het
Lrrc27 G T 7: 139,227,911 probably benign Het
March2 A C 17: 33,703,096 W97G probably damaging Het
Olfr1066 A G 2: 86,455,402 Y290H probably damaging Het
Olfr1257 C A 2: 89,881,099 P91Q probably benign Het
Olfr1444 A G 19: 12,861,867 I31V probably benign Het
Pah T A 10: 87,578,261 I324N probably damaging Het
Pcdhb7 A G 18: 37,343,152 E447G probably benign Het
Prex2 T C 1: 11,153,645 V731A probably benign Het
Prpsap2 A G 11: 61,755,451 V44A probably benign Het
Rp1 T C 1: 4,345,718 N1724D probably damaging Het
Sap130 A G 18: 31,680,440 N517D probably damaging Het
Snx19 A G 9: 30,427,823 T86A probably benign Het
Tbc1d32 A T 10: 56,123,577 V833D probably benign Het
Washc2 A G 6: 116,262,338 D1290G probably damaging Het
Other mutations in Slc13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Slc13a3 APN 2 165411923 missense probably damaging 1.00
IGL00326:Slc13a3 APN 2 165473097 missense possibly damaging 0.89
IGL01308:Slc13a3 APN 2 165406780 missense probably damaging 0.99
IGL02435:Slc13a3 APN 2 165408940 missense possibly damaging 0.95
IGL02551:Slc13a3 APN 2 165424573 missense probably damaging 1.00
IGL02716:Slc13a3 APN 2 165406715 missense unknown
IGL03107:Slc13a3 APN 2 165437307 missense probably benign 0.00
R0114:Slc13a3 UTSW 2 165424581 missense probably damaging 1.00
R0624:Slc13a3 UTSW 2 165411887 missense probably damaging 1.00
R1051:Slc13a3 UTSW 2 165408820 critical splice donor site probably null
R1780:Slc13a3 UTSW 2 165406699 missense unknown
R1782:Slc13a3 UTSW 2 165445519 missense probably benign 0.01
R1994:Slc13a3 UTSW 2 165434064 missense possibly damaging 0.90
R4739:Slc13a3 UTSW 2 165430289 missense possibly damaging 0.91
R4971:Slc13a3 UTSW 2 165448699 missense probably damaging 0.99
R5091:Slc13a3 UTSW 2 165420080 missense probably benign 0.11
R5093:Slc13a3 UTSW 2 165411896 missense probably damaging 1.00
R5826:Slc13a3 UTSW 2 165408956 missense probably benign 0.05
R5894:Slc13a3 UTSW 2 165424623 missense probably benign 0.00
R6239:Slc13a3 UTSW 2 165406697 missense unknown
R6394:Slc13a3 UTSW 2 165434097 missense probably damaging 1.00
R6453:Slc13a3 UTSW 2 165411947 missense possibly damaging 0.94
R6463:Slc13a3 UTSW 2 165445653 missense probably damaging 1.00
R6480:Slc13a3 UTSW 2 165408898 missense probably damaging 1.00
R6525:Slc13a3 UTSW 2 165406747 missense unknown
R6879:Slc13a3 UTSW 2 165430301 missense probably damaging 1.00
R7278:Slc13a3 UTSW 2 165445528 missense possibly damaging 0.87
R7340:Slc13a3 UTSW 2 165430290 missense probably benign 0.00
R7404:Slc13a3 UTSW 2 165434064 missense possibly damaging 0.90
R7452:Slc13a3 UTSW 2 165427114 missense probably benign 0.03
R7585:Slc13a3 UTSW 2 165430322 missense probably benign 0.00
Posted On2014-01-21