Incidental Mutation 'IGL01679:Slc13a2'
| ID |
103727 |
| 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 # |
IGL01679
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78295537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 110
(A110S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001122
AA Change: A110S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: A110S
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,071 (GRCm39) |
M2606K |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,470,035 (GRCm39) |
I1100V |
probably benign |
Het |
| Atp2a1 |
T |
C |
7: 126,055,981 (GRCm39) |
N280S |
probably benign |
Het |
| Car8 |
G |
A |
4: 8,169,674 (GRCm39) |
T278I |
possibly damaging |
Het |
| Catsperb |
G |
A |
12: 101,557,841 (GRCm39) |
|
probably null |
Het |
| Cfap47 |
A |
G |
X: 78,376,439 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,047,307 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,201,828 (GRCm39) |
E3378G |
probably damaging |
Het |
| Ctsq |
C |
T |
13: 61,186,722 (GRCm39) |
G94D |
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,378 (GRCm39) |
K388E |
probably benign |
Het |
| Gab1 |
C |
T |
8: 81,518,178 (GRCm39) |
A145T |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,233,038 (GRCm39) |
|
probably null |
Het |
| Gm6685 |
T |
C |
11: 28,289,586 (GRCm39) |
T77A |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,268,262 (GRCm39) |
K387R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,006 (GRCm39) |
V143A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,114,752 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,351,942 (GRCm39) |
T201A |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,049,901 (GRCm39) |
S650P |
probably damaging |
Het |
| Rplp2 |
T |
G |
7: 141,028,679 (GRCm39) |
I55S |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,031,919 (GRCm39) |
D998G |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,595,835 (GRCm39) |
Y94* |
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,042,598 (GRCm39) |
R889G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,936 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,180,637 (GRCm39) |
E165G |
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 |
|
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 |
2014-01-21 |
Incidental Mutation