Incidental Mutation 'IGL02551:Slc13a3'
ID298102
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 #IGL02551
Quality Score
Status
Chromosome2
Chromosomal Location165405028-165473230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 165424573 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 348 (F348L)
Ref Sequence ENSEMBL: ENSMUSP00000104902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
Predicted Effect probably damaging
Transcript: ENSMUST00000029208
AA Change: F390L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: F390L

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: F348L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: F348L

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: ENSMUST00000143136
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik G A 1: 158,969,048 noncoding transcript Het
Abca8a T C 11: 110,084,242 I109V probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Adamts18 C A 8: 113,699,072 C1186F probably damaging Het
Adamts5 A T 16: 85,870,038 V522E possibly damaging Het
Adcy10 A G 1: 165,543,233 T694A probably damaging Het
Adgra2 G A 8: 27,119,222 V609I probably benign Het
Agbl3 A G 6: 34,823,071 K638R possibly damaging Het
Alpk2 T A 18: 65,372,751 N66I probably damaging Het
Ap3b1 T A 13: 94,418,091 I245N probably damaging Het
Aqp9 A G 9: 71,132,640 V120A probably damaging Het
Arhgef17 T C 7: 100,930,346 E465G probably damaging Het
Btrc G T 19: 45,423,134 C31F possibly damaging Het
Calhm2 G A 19: 47,133,100 S210L probably damaging Het
Cnksr3 C A 10: 7,152,912 K153N probably damaging Het
Cnr1 T C 4: 33,943,686 S25P probably benign Het
Dnajc6 T A 4: 101,639,353 W838R probably damaging Het
Fam78a T A 2: 32,069,556 T181S probably damaging Het
Fat1 A G 8: 45,051,398 T4600A probably damaging Het
Fbxo31 A T 8: 121,566,344 Y101N probably damaging Het
Glmp A G 3: 88,325,082 M1V probably null Het
Gsdmc T A 15: 63,801,933 T168S probably benign Het
Has1 C T 17: 17,848,298 V265I probably damaging Het
Hmcn2 A G 2: 31,454,811 D4670G possibly damaging Het
Kcnj4 C T 15: 79,484,902 M292I probably benign Het
Kmo A T 1: 175,637,919 S80C probably damaging Het
Lrrc8d C T 5: 105,813,548 T608I possibly damaging Het
Mical2 A T 7: 112,323,990 N635I probably benign Het
Nags T C 11: 102,147,941 S403P probably damaging Het
Nalcn T A 14: 123,323,338 I776F probably benign Het
Ncan A T 8: 70,102,462 N1018K probably damaging Het
Notch3 T A 17: 32,154,731 probably benign Het
Nup93 C T 8: 94,227,833 Q53* probably null Het
Pdk2 T A 11: 95,028,586 M288L probably benign Het
Pkd1 A G 17: 24,573,815 Y1492C probably damaging Het
Pla2g12b T A 10: 59,403,870 W34R probably damaging Het
Pla2g6 T A 15: 79,299,094 D511V possibly damaging Het
Plin2 C A 4: 86,658,692 M265I probably benign Het
Ppp6c A T 2: 39,206,657 F78I probably damaging Het
Prop1 A T 11: 50,950,946 M211K possibly damaging Het
Prr14l T A 5: 32,831,484 E222D probably damaging Het
Rtkn A T 6: 83,151,924 I454F probably damaging Het
Serinc2 T C 4: 130,260,774 I226V probably benign Het
Sh3bp1 T A 15: 78,904,338 H229Q probably benign Het
Slc6a15 T A 10: 103,404,275 probably benign Het
Spg7 G A 8: 123,076,978 G249E probably damaging Het
Tbc1d2 T C 4: 46,649,916 D40G probably benign Het
Tmcc2 A G 1: 132,357,579 L683P probably damaging Het
Triobp T C 15: 78,973,489 S1097P probably benign Het
Tspan9 T C 6: 127,965,763 D167G probably null Het
Ttll6 T C 11: 96,154,700 I581T probably benign Het
Usp29 A G 7: 6,963,353 probably null Het
Vgll4 A G 6: 114,862,293 W246R probably damaging Het
Vmn2r26 T C 6: 124,026,141 V170A probably benign Het
Vmn2r62 T C 7: 42,788,506 T185A probably benign Het
Vwce A G 19: 10,645,036 H234R possibly damaging Het
Zfp292 T C 4: 34,806,462 E2194G possibly 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
IGL01668:Slc13a3 APN 2 165430292 missense probably damaging 1.00
IGL02435:Slc13a3 APN 2 165408940 missense possibly damaging 0.95
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 On2015-04-16