Incidental Mutation 'R6879:Slc13a3'
| ID |
536548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc13a3
|
| Ensembl Gene |
ENSMUSG00000018459 |
| Gene Name |
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 |
| Synonyms |
SDCT2, NaDC3, NaDC-3 |
| MMRRC Submission |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165247215-165315117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 165272221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 274
(G274V)
|
| 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: G274V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029208
Gene: ENSMUSG00000018459
AA Change: G274V
| 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 |
|
| Meta Mutation Damage Score |
0.8678 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCTTTGCTCAAAGGGCAAC -3'
(R):5'- TGTGGTTCCACTGAGTCAAAGC -3'
Sequencing Primer
(F):5'- CTTTGCTCAAAGGGCAACATGTG -3'
(R):5'- AAGGAAAGGTGCCTTCTGTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation