Incidental Mutation 'IGL01668:Slc13a3'
ID |
103383 |
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 # |
IGL01668
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165247215-165315117 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 165272212 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
Q91Y63 |
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
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 |
probably benign
Transcript: ENSMUST00000109279
|
SMART Domains |
Protein: ENSMUSP00000104902 Gene: ENSMUSG00000018459
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3d1 |
A |
G |
10: 80,554,993 (GRCm39) |
V444A |
possibly damaging |
Het |
Chd9 |
A |
T |
8: 91,753,404 (GRCm39) |
H1799L |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,990,629 (GRCm39) |
P1108S |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,773,264 (GRCm39) |
S86P |
probably damaging |
Het |
Cldn16 |
T |
A |
16: 26,301,296 (GRCm39) |
Y201* |
probably null |
Het |
Col6a6 |
C |
A |
9: 105,586,470 (GRCm39) |
R1850S |
probably damaging |
Het |
Cryge |
A |
G |
1: 65,087,857 (GRCm39) |
Y151H |
probably damaging |
Het |
Dhcr7 |
T |
A |
7: 143,397,048 (GRCm39) |
V180D |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,815,080 (GRCm39) |
R577W |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
Gm5901 |
C |
T |
7: 105,026,771 (GRCm39) |
R180C |
probably benign |
Het |
Hook2 |
A |
T |
8: 85,720,207 (GRCm39) |
Y131F |
possibly damaging |
Het |
Hsf1 |
T |
C |
15: 76,381,162 (GRCm39) |
|
probably null |
Het |
Ighv1-62-3 |
A |
G |
12: 115,424,613 (GRCm39) |
|
probably benign |
Het |
Ikbke |
T |
G |
1: 131,184,675 (GRCm39) |
D666A |
probably benign |
Het |
Il1r1 |
C |
T |
1: 40,352,489 (GRCm39) |
T556I |
probably benign |
Het |
Larp4 |
T |
C |
15: 99,885,355 (GRCm39) |
S69P |
probably damaging |
Het |
Lrrc27 |
G |
T |
7: 138,807,827 (GRCm39) |
|
probably benign |
Het |
Marchf2 |
A |
C |
17: 33,922,070 (GRCm39) |
W97G |
probably damaging |
Het |
Or4c10b |
C |
A |
2: 89,711,443 (GRCm39) |
P91Q |
probably benign |
Het |
Or5b21 |
A |
G |
19: 12,839,231 (GRCm39) |
I31V |
probably benign |
Het |
Or8k28 |
A |
G |
2: 86,285,746 (GRCm39) |
Y290H |
probably damaging |
Het |
Pah |
T |
A |
10: 87,414,123 (GRCm39) |
I324N |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,476,205 (GRCm39) |
E447G |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,223,869 (GRCm39) |
V731A |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,646,277 (GRCm39) |
V44A |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,415,941 (GRCm39) |
N1724D |
probably damaging |
Het |
Sap130 |
A |
G |
18: 31,813,493 (GRCm39) |
N517D |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,339,119 (GRCm39) |
T86A |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,999,673 (GRCm39) |
V833D |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,239,299 (GRCm39) |
D1290G |
probably damaging |
Het |
Wdr87-ps |
G |
A |
7: 29,236,855 (GRCm39) |
|
noncoding transcript |
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 |
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 |
2014-01-21 |