Incidental Mutation 'IGL00326:Slc13a3'
ID6967
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 #IGL00326
Quality Score
Status
Chromosome2
Chromosomal Location165405028-165473230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 165473097 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 22 (L22Q)
Ref Sequence ENSEMBL: ENSMUSP00000104902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029208] [ENSMUST00000109279]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029208
AA Change: L22Q

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: L22Q

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 possibly damaging
Transcript: ENSMUST00000109279
AA Change: L22Q

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: L22Q

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik G T 4: 62,543,744 probably null Het
9230109A22Rik G T 15: 25,139,115 noncoding transcript Het
Acd A T 8: 105,698,454 Y378N probably damaging Het
Adcy9 A G 16: 4,294,696 V709A probably benign Het
Axl A T 7: 25,785,899 L168H probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Drd3 G A 16: 43,762,321 R59H probably benign Het
Erlec1 T C 11: 30,948,510 N180S possibly damaging Het
Fnip2 G T 3: 79,481,521 S634R probably benign Het
Focad A T 4: 88,357,474 T1107S unknown Het
Galnt11 T C 5: 25,248,831 probably benign Het
Gigyf1 C T 5: 137,518,948 probably benign Het
Gpat2 A G 2: 127,432,396 T353A probably benign Het
Hip1 A G 5: 135,449,822 F178L probably damaging Het
Hist1h2bb G T 13: 23,747,128 V112L possibly damaging Het
Igkv6-13 A T 6: 70,457,661 S67T probably damaging Het
Iqch T C 9: 63,480,654 T824A probably damaging Het
Kansl1 A G 11: 104,424,466 S249P probably damaging Het
Large1 C T 8: 73,131,983 A86T probably benign Het
Lysmd3 C T 13: 81,665,244 A77V probably damaging Het
Npr3 T A 15: 11,895,694 S289C probably damaging Het
Olfr480 A G 7: 108,066,288 V140A probably benign Het
Olfr666 A T 7: 104,892,972 S219T probably damaging Het
Pear1 C T 3: 87,752,116 V804I possibly damaging Het
Rgs11 T A 17: 26,207,397 I230N probably damaging Het
Slc5a9 A G 4: 111,898,569 V44A probably damaging Het
Ttc12 G T 9: 49,471,206 probably null Het
Vmn2r2 A G 3: 64,133,898 probably benign Het
Zc3h18 T C 8: 122,386,852 probably benign Het
Zfp354a G A 11: 51,069,363 E132K probably benign Het
Other mutations in Slc13a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Slc13a3 APN 2 165411923 missense probably damaging 1.00
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
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 On2012-04-20