Incidental Mutation 'IGL02435:Slc13a3'
| ID |
293253 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc13a3
|
| Ensembl Gene |
ENSMUSG00000018459 |
| Gene Name |
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 |
| Synonyms |
SDCT2, NaDC3, NaDC-3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165247215-165315117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165250860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 461
(H461R)
|
| 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: H503R
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: H503R
| Domain | Start | End | E-Value | Type |
|---|
|
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: H461R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: H461R
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145513
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
| Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
| Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
| Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
| Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
| Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
| Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
| Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
| Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
| Other mutations in Slc13a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation