Incidental Mutation 'R9501:Slc13a2'
| ID |
717576 |
| 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 # |
R9501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78288102-78313107 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78291633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 340
(T340M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001122]
|
| AlphaFold |
Q9ES88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001122
AA Change: T340M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001122
Gene: ENSMUSG00000001095
AA Change: T340M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,214,853 (GRCm39) |
V439D |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,379,125 (GRCm39) |
S664P |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,282,019 (GRCm39) |
S202G |
unknown |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,735,032 (GRCm39) |
K782R |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,515,999 (GRCm39) |
Q180R |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,481 (GRCm39) |
S1587G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,294 (GRCm39) |
I787N |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,452,045 (GRCm39) |
I1317L |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,777,322 (GRCm39) |
E850* |
probably null |
Het |
| Clpb |
G |
A |
7: 101,427,780 (GRCm39) |
G375D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,328,235 (GRCm39) |
I124F |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,363 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,961 (GRCm39) |
D479G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,419,041 (GRCm39) |
C611S |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,928,992 (GRCm39) |
V1299L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,849 (GRCm39) |
Y1814C |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,130 (GRCm39) |
C1082R |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,207,920 (GRCm39) |
N450K |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,470,990 (GRCm39) |
I4925F |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,500 (GRCm39) |
V396E |
probably benign |
Het |
| Kin |
G |
T |
2: 10,085,478 (GRCm39) |
A13S |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,172,247 (GRCm39) |
R1581C |
|
Het |
| Myl2 |
T |
C |
5: 122,241,921 (GRCm39) |
I66T |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,134,137 (GRCm39) |
C219R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,664,757 (GRCm39) |
Y100N |
probably damaging |
Het |
| Pdk4 |
A |
G |
6: 5,491,084 (GRCm39) |
L227P |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,177 (GRCm39) |
E240D |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,156 (GRCm39) |
L46P |
|
Het |
| Pik3ca |
A |
G |
3: 32,504,062 (GRCm39) |
Y584C |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,779,037 (GRCm39) |
S230P |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,241,355 (GRCm39) |
F315S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,039 (GRCm39) |
R542G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,579 (GRCm39) |
N106S |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,122 (GRCm39) |
N775K |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,875,257 (GRCm39) |
Y438C |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,617,977 (GRCm39) |
Q336R |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,611 (GRCm39) |
V160A |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,060,506 (GRCm39) |
D183V |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Stxbp1 |
G |
A |
2: 32,692,825 (GRCm39) |
A397V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,535,092 (GRCm39) |
H20R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,718,923 (GRCm39) |
D2626E |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,858,265 (GRCm39) |
M694T |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,398,464 (GRCm39) |
A284V |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,176,943 (GRCm39) |
T327S |
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,510,404 (GRCm39) |
W274R |
unknown |
Het |
| Tshz2 |
A |
T |
2: 169,725,759 (GRCm39) |
E118D |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,980 (GRCm39) |
T990A |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,925,557 (GRCm39) |
D224G |
probably benign |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,650 (GRCm39) |
Q110R |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,890 (GRCm39) |
K537R |
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 |
|
R9783:Slc13a2
|
UTSW |
11 |
78,294,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATCTGATACCATGCTGTG -3'
(R):5'- GTGCAGAGCCTTTATACACTGTC -3'
Sequencing Primer
(F):5'- ACAGAGAAGGGTCCCTCC -3'
(R):5'- AGAGCCTTTATACACTGTCCCTGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation