Incidental Mutation 'IGL00326:Slc13a3'
| ID |
6967 |
| 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 # |
IGL00326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165247215-165315117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 165315017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q91Y63 |
| 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
| 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: L22Q
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104902
Gene: ENSMUSG00000018459
AA Change: L22Q
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
G |
T |
4: 62,461,981 (GRCm39) |
|
probably null |
Het |
| 9230109A22Rik |
G |
T |
15: 25,139,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acd |
A |
T |
8: 106,425,086 (GRCm39) |
Y378N |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,112,560 (GRCm39) |
V709A |
probably benign |
Het |
| Axl |
A |
T |
7: 25,485,324 (GRCm39) |
L168H |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Drd3 |
G |
A |
16: 43,582,684 (GRCm39) |
R59H |
probably benign |
Het |
| Erlec1 |
T |
C |
11: 30,898,510 (GRCm39) |
N180S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,388,828 (GRCm39) |
S634R |
probably benign |
Het |
| Focad |
A |
T |
4: 88,275,711 (GRCm39) |
T1107S |
unknown |
Het |
| Galnt11 |
T |
C |
5: 25,453,829 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
C |
T |
5: 137,517,210 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,274,316 (GRCm39) |
T353A |
probably benign |
Het |
| H2bc3 |
G |
T |
13: 23,931,111 (GRCm39) |
V112L |
possibly damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,434,645 (GRCm39) |
S67T |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,387,936 (GRCm39) |
T824A |
probably damaging |
Het |
| Kansl1 |
A |
G |
11: 104,315,292 (GRCm39) |
S249P |
probably damaging |
Het |
| Large1 |
C |
T |
8: 73,858,611 (GRCm39) |
A86T |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,363 (GRCm39) |
A77V |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,895,780 (GRCm39) |
S289C |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,179 (GRCm39) |
S219T |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,665,495 (GRCm39) |
V140A |
probably benign |
Het |
| Pear1 |
C |
T |
3: 87,659,423 (GRCm39) |
V804I |
possibly damaging |
Het |
| Rgs11 |
T |
A |
17: 26,426,371 (GRCm39) |
I230N |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,755,766 (GRCm39) |
V44A |
probably damaging |
Het |
| Ttc12 |
G |
T |
9: 49,382,506 (GRCm39) |
|
probably null |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,319 (GRCm39) |
|
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,113,591 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
G |
A |
11: 50,960,190 (GRCm39) |
E132K |
probably benign |
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 |
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation