Incidental Mutation 'R5170:Slc13a2'
ID |
397516 |
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 |
042750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5170 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78291634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 340
(T340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
AlphaFold |
Q9ES88 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001122
AA Change: T340A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001122 Gene: ENSMUSG00000001095 AA Change: T340A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCATCTGATACCATGCTGTG -3'
(R):5'- AGAGCCTTTATACACTGTCCCTG -3'
Sequencing Primer
(F):5'- ACAGAGAAGGGTCCCTCC -3'
(R):5'- ATACACTGTCCCTGCCTCTG -3'
|
Posted On |
2016-07-06 |