Incidental Mutation 'IGL01604:Slc13a2'
ID |
92688 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01604
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78294221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 220
(I220T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
AlphaFold |
Q9ES88 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001122
AA Change: I220T
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000001122 Gene: ENSMUSG00000001095 AA Change: I220T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149865
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,168,462 (GRCm39) |
I1416L |
possibly damaging |
Het |
Abcc4 |
A |
T |
14: 118,765,406 (GRCm39) |
M992K |
possibly damaging |
Het |
Adnp |
A |
G |
2: 168,026,258 (GRCm39) |
S346P |
probably damaging |
Het |
Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
Cblif |
A |
G |
19: 11,735,126 (GRCm39) |
T249A |
probably benign |
Het |
Ccl12 |
A |
G |
11: 81,994,059 (GRCm39) |
*105W |
probably null |
Het |
Chd1 |
A |
G |
17: 15,990,359 (GRCm39) |
D1637G |
possibly damaging |
Het |
Cpeb2 |
T |
C |
5: 43,436,038 (GRCm39) |
|
probably null |
Het |
Cul4a |
T |
C |
8: 13,183,843 (GRCm39) |
|
probably null |
Het |
Dlg1 |
T |
A |
16: 31,675,256 (GRCm39) |
|
probably benign |
Het |
Fam171b |
A |
G |
2: 83,709,944 (GRCm39) |
T539A |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,854,749 (GRCm39) |
N1792D |
probably benign |
Het |
Gm9696 |
A |
C |
3: 59,879,723 (GRCm39) |
|
noncoding transcript |
Het |
Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,900,482 (GRCm39) |
F728I |
probably damaging |
Het |
Megf9 |
C |
A |
4: 70,367,028 (GRCm39) |
C318F |
probably null |
Het |
Mpi |
G |
A |
9: 57,458,025 (GRCm39) |
A59V |
possibly damaging |
Het |
Mrps28 |
A |
G |
3: 8,965,130 (GRCm39) |
I103T |
probably damaging |
Het |
Msantd2 |
G |
A |
9: 37,434,144 (GRCm39) |
R329H |
probably benign |
Het |
Myh7b |
C |
T |
2: 155,474,327 (GRCm39) |
L1681F |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,332,535 (GRCm39) |
|
probably benign |
Het |
Or4k52 |
A |
G |
2: 111,610,935 (GRCm39) |
K90R |
possibly damaging |
Het |
Or5b119 |
G |
A |
19: 13,456,612 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
G |
A |
11: 54,585,389 (GRCm39) |
E1596K |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,454 (GRCm39) |
E270G |
probably benign |
Het |
Skor2 |
C |
A |
18: 76,947,646 (GRCm39) |
A456E |
possibly damaging |
Het |
Slc6a1 |
T |
A |
6: 114,291,362 (GRCm39) |
M361K |
probably damaging |
Het |
Tars2 |
G |
A |
3: 95,647,590 (GRCm39) |
R608C |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,593,746 (GRCm39) |
|
probably null |
Het |
Tex14 |
A |
G |
11: 87,400,524 (GRCm39) |
I439V |
possibly damaging |
Het |
Thbs2 |
T |
A |
17: 14,899,031 (GRCm39) |
I690F |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,418,244 (GRCm39) |
I1684V |
possibly damaging |
Het |
Xdh |
T |
C |
17: 74,216,332 (GRCm39) |
I705V |
probably benign |
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 |
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 |
R9783:Slc13a2
|
UTSW |
11 |
78,294,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |