Incidental Mutation 'R9783:Slc13a2'
| ID |
734174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc13a2
|
| Ensembl Gene |
ENSMUSG00000001095 |
| Gene Name |
solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 |
| Synonyms |
sodium/dicarboxylate co-transporter, mNaDC-1, Nadc1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78294177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 235
(T235S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001122
AA Change: T235S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: T235S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_sulph_symp
|
6 |
560 |
7.1e-161 |
PFAM |
|
Pfam:CitMHS
|
45 |
164 |
3e-15 |
PFAM |
|
Pfam:CitMHS
|
203 |
499 |
1.5e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Kreb cycle intermediates in the urine but otherwise have normal kidney function and response to ischemia-reperfusion injury and caloric restriction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdkn2aip |
A |
G |
8: 48,164,090 (GRCm39) |
V541A |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,711,118 (GRCm39) |
D1499E |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,438 (GRCm39) |
S248P |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,458,865 (GRCm39) |
I1076N |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,440,720 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,602 (GRCm39) |
G255D |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,911,342 (GRCm39) |
T954A |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,484,296 (GRCm39) |
L65P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,208,128 (GRCm39) |
Y1307H |
possibly damaging |
Het |
| Gckr |
G |
A |
5: 31,466,399 (GRCm39) |
S458N |
probably benign |
Het |
| Gpx4 |
T |
C |
10: 79,890,851 (GRCm39) |
V181A |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,598,380 (GRCm39) |
E1641K |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,946,787 (GRCm39) |
I409T |
probably damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,431,994 (GRCm39) |
V106M |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,190,709 (GRCm39) |
E384G |
|
Het |
| Lyz3 |
T |
C |
10: 117,073,653 (GRCm39) |
N60S |
possibly damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,057,934 (GRCm39) |
L803P |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,985,053 (GRCm39) |
|
probably benign |
Het |
| Or1j16 |
A |
G |
2: 36,530,161 (GRCm39) |
T37A |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,610 (GRCm39) |
F240I |
probably benign |
Het |
| Otof |
T |
C |
5: 30,536,576 (GRCm39) |
K1302E |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,242,174 (GRCm39) |
V192A |
probably benign |
Het |
| Plxdc2 |
C |
T |
2: 16,674,349 (GRCm39) |
Q310* |
probably null |
Het |
| Pola2 |
C |
T |
19: 5,990,904 (GRCm39) |
V597M |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,321,444 (GRCm39) |
Y549F |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,910,920 (GRCm39) |
M155T |
probably benign |
Het |
| Scap |
C |
T |
9: 110,202,132 (GRCm39) |
H167Y |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,329,128 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc40a1 |
A |
G |
1: 45,951,513 (GRCm39) |
S215P |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,796,226 (GRCm39) |
R59H |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,005 (GRCm39) |
C347R |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,887,890 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,840 (GRCm39) |
L458M |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,392,227 (GRCm39) |
I2042F |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,230,513 (GRCm39) |
T312K |
probably damaging |
Het |
|
| Other mutations in Slc13a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Slc13a2
|
APN |
11 |
78,291,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Slc13a2
|
APN |
11 |
78,294,221 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01679:Slc13a2
|
APN |
11 |
78,295,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03100:Slc13a2
|
APN |
11 |
78,295,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Slc13a2
|
APN |
11 |
78,289,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
deliberate
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Familiaris
|
UTSW |
11 |
78,295,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
intentional
|
UTSW |
11 |
78,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0085:Slc13a2
|
UTSW |
11 |
78,297,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0324:Slc13a2
|
UTSW |
11 |
78,295,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Slc13a2
|
UTSW |
11 |
78,295,626 (GRCm39) |
nonsense |
probably null |
|
|
R0440:Slc13a2
|
UTSW |
11 |
78,294,001 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0539:Slc13a2
|
UTSW |
11 |
78,289,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Slc13a2
|
UTSW |
11 |
78,288,572 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1550:Slc13a2
|
UTSW |
11 |
78,293,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Slc13a2
|
UTSW |
11 |
78,290,968 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2166:Slc13a2
|
UTSW |
11 |
78,293,901 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2994:Slc13a2
|
UTSW |
11 |
78,295,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2998:Slc13a2
|
UTSW |
11 |
78,295,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3418:Slc13a2
|
UTSW |
11 |
78,291,666 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3932:Slc13a2
|
UTSW |
11 |
78,289,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Slc13a2
|
UTSW |
11 |
78,294,361 (GRCm39) |
intron |
probably benign |
|
|
R4462:Slc13a2
|
UTSW |
11 |
78,295,213 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5014:Slc13a2
|
UTSW |
11 |
78,290,987 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5170:Slc13a2
|
UTSW |
11 |
78,291,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Slc13a2
|
UTSW |
11 |
78,295,648 (GRCm39) |
splice site |
probably benign |
|
|
R5809:Slc13a2
|
UTSW |
11 |
78,288,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Slc13a2
|
UTSW |
11 |
78,291,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6243:Slc13a2
|
UTSW |
11 |
78,295,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6275:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6276:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6279:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6280:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6300:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6305:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6314:Slc13a2
|
UTSW |
11 |
78,294,306 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6673:Slc13a2
|
UTSW |
11 |
78,288,657 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7138:Slc13a2
|
UTSW |
11 |
78,289,950 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7382:Slc13a2
|
UTSW |
11 |
78,295,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Slc13a2
|
UTSW |
11 |
78,289,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7791:Slc13a2
|
UTSW |
11 |
78,312,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8027:Slc13a2
|
UTSW |
11 |
78,295,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9091:Slc13a2
|
UTSW |
11 |
78,295,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Slc13a2
|
UTSW |
11 |
78,295,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Slc13a2
|
UTSW |
11 |
78,294,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9501:Slc13a2
|
UTSW |
11 |
78,291,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCAAAGTTCACCACGTTAC -3'
(R):5'- AGGCCTCAGGACAAAGTCAG -3'
Sequencing Primer
(F):5'- CACCACGTTACTATTTTCAGGGAAG -3'
(R):5'- AGGACTCCTGCAGTTACTCTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation