Incidental Mutation 'R5946:Slc22a12'
| ID |
501718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a12
|
| Ensembl Gene |
ENSMUSG00000061742 |
| Gene Name |
solute carrier family 22 (organic anion/cation transporter), member 12 |
| Synonyms |
Rst, URAT1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6585875-6593062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6587881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 358
(F358L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077182]
[ENSMUST00000113451]
[ENSMUST00000113458]
[ENSMUST00000113459]
[ENSMUST00000113462]
[ENSMUST00000137166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077182
|
| SMART Domains |
Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
LamG
|
49 |
187 |
1.67e-33 |
SMART |
|
EGF
|
205 |
242 |
1.73e1 |
SMART |
|
low complexity region
|
268 |
276 |
N/A |
INTRINSIC |
|
LamG
|
310 |
444 |
1.18e-33 |
SMART |
|
LamG
|
498 |
651 |
1.51e-40 |
SMART |
|
EGF
|
678 |
712 |
8.91e-3 |
SMART |
|
LamG
|
737 |
875 |
4.91e-22 |
SMART |
|
LamG
|
923 |
1059 |
1.08e-41 |
SMART |
|
EGF
|
1084 |
1118 |
1.91e1 |
SMART |
|
LamG
|
1146 |
1303 |
4.48e-16 |
SMART |
|
low complexity region
|
1332 |
1362 |
N/A |
INTRINSIC |
|
low complexity region
|
1430 |
1445 |
N/A |
INTRINSIC |
|
4.1m
|
1448 |
1466 |
3.75e-4 |
SMART |
|
low complexity region
|
1480 |
1499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113451
AA Change: F358L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: F358L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
95 |
525 |
2e-26 |
PFAM |
|
Pfam:MFS_1
|
128 |
484 |
7.5e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113458
|
| SMART Domains |
Protein: ENSMUSP00000109085
Gene: ENSMUSG00000033768
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
LamG
|
111 |
268 |
4.48e-16 |
SMART |
|
low complexity region
|
297 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
4.1m
|
605 |
623 |
3.75e-4 |
SMART |
|
low complexity region
|
637 |
656 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113459
|
| SMART Domains |
Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
LamG
|
111 |
238 |
1.26e-19 |
SMART |
|
low complexity region
|
267 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113462
|
| SMART Domains |
Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
LamG
|
49 |
187 |
1.67e-33 |
SMART |
|
EGF
|
205 |
242 |
1.73e1 |
SMART |
|
low complexity region
|
268 |
276 |
N/A |
INTRINSIC |
|
LamG
|
310 |
452 |
8.4e-30 |
SMART |
|
LamG
|
506 |
659 |
1.51e-40 |
SMART |
|
EGF
|
686 |
720 |
8.91e-3 |
SMART |
|
LamG
|
745 |
883 |
4.91e-22 |
SMART |
|
LamG
|
931 |
1067 |
1.08e-41 |
SMART |
|
EGF
|
1092 |
1126 |
1.91e1 |
SMART |
|
LamG
|
1154 |
1311 |
4.48e-16 |
SMART |
|
low complexity region
|
1340 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1426 |
1447 |
N/A |
INTRINSIC |
|
low complexity region
|
1630 |
1645 |
N/A |
INTRINSIC |
|
4.1m
|
1648 |
1666 |
3.75e-4 |
SMART |
|
low complexity region
|
1680 |
1699 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126142
AA Change: F236L
|
| SMART Domains |
Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742
AA Change: F236L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
229 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137166
|
| SMART Domains |
Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
LamG
|
49 |
187 |
1.67e-33 |
SMART |
|
EGF
|
205 |
242 |
1.73e1 |
SMART |
|
low complexity region
|
268 |
276 |
N/A |
INTRINSIC |
|
LamG
|
310 |
459 |
8.87e-29 |
SMART |
|
LamG
|
513 |
666 |
1.51e-40 |
SMART |
|
EGF
|
693 |
727 |
8.91e-3 |
SMART |
|
LamG
|
752 |
890 |
4.91e-22 |
SMART |
|
LamG
|
938 |
1074 |
1.08e-41 |
SMART |
|
EGF
|
1099 |
1133 |
1.91e1 |
SMART |
|
LamG
|
1161 |
1318 |
4.48e-16 |
SMART |
|
low complexity region
|
1347 |
1377 |
N/A |
INTRINSIC |
|
low complexity region
|
1433 |
1454 |
N/A |
INTRINSIC |
|
low complexity region
|
1637 |
1652 |
N/A |
INTRINSIC |
|
4.1m
|
1655 |
1673 |
3.75e-4 |
SMART |
|
low complexity region
|
1687 |
1706 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| 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 member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urinary urate levels and altered urine and plasma metabolite composition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,678 (GRCm39) |
F1137S |
probably damaging |
Het |
| Actr6 |
G |
T |
10: 89,564,054 (GRCm39) |
Q73K |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,225,265 (GRCm39) |
G358D |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,508,084 (GRCm39) |
V94A |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,541,459 (GRCm39) |
Y57C |
probably damaging |
Het |
| Asb2 |
A |
G |
12: 103,287,814 (GRCm39) |
Y630H |
probably benign |
Het |
| Atp1a1 |
A |
T |
3: 101,497,090 (GRCm39) |
N405K |
probably benign |
Het |
| C6 |
G |
T |
15: 4,837,996 (GRCm39) |
D869Y |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,168 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,131 (GRCm39) |
E179V |
probably damaging |
Het |
| Chgb |
T |
A |
2: 132,634,516 (GRCm39) |
Y153N |
probably benign |
Het |
| Cit |
T |
A |
5: 116,135,593 (GRCm39) |
L1831Q |
probably damaging |
Het |
| Cpne8 |
C |
A |
15: 90,373,191 (GRCm39) |
*578L |
probably null |
Het |
| Cspg5 |
A |
G |
9: 110,080,151 (GRCm39) |
T440A |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,598,467 (GRCm39) |
V1393G |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,199,575 (GRCm39) |
D37G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,213,273 (GRCm39) |
I1063M |
probably benign |
Het |
| Efs |
T |
G |
14: 55,156,951 (GRCm39) |
|
probably null |
Het |
| Gpatch1 |
A |
G |
7: 34,991,257 (GRCm39) |
S596P |
probably damaging |
Het |
| Hbs1l |
C |
A |
10: 21,217,655 (GRCm39) |
H190Q |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,386,329 (GRCm39) |
V7A |
unknown |
Het |
| Ivd |
A |
T |
2: 118,707,370 (GRCm39) |
I295F |
possibly damaging |
Het |
| Kcnq5 |
A |
C |
1: 21,575,931 (GRCm39) |
S258A |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,247,334 (GRCm39) |
P331Q |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,063,922 (GRCm39) |
G1045C |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,558,701 (GRCm39) |
I233N |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,276,580 (GRCm39) |
L225P |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,371,644 (GRCm39) |
C2615Y |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,463,315 (GRCm39) |
F516L |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,467,851 (GRCm39) |
S1347R |
probably damaging |
Het |
| Ogn |
A |
G |
13: 49,771,761 (GRCm39) |
N207S |
probably benign |
Het |
| Or2h15 |
C |
A |
17: 38,441,598 (GRCm39) |
A162S |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,330 (GRCm39) |
L300Q |
probably damaging |
Het |
| Pcdha2 |
G |
T |
18: 37,074,159 (GRCm39) |
V597L |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,217,897 (GRCm39) |
Y2126F |
possibly damaging |
Het |
| Pgbd5 |
A |
T |
8: 125,101,056 (GRCm39) |
M400K |
possibly damaging |
Het |
| Pklr |
A |
T |
3: 89,043,503 (GRCm39) |
E5V |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,135,411 (GRCm39) |
D94E |
probably benign |
Het |
| Ppan |
C |
T |
9: 20,800,969 (GRCm39) |
Q111* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,143,926 (GRCm39) |
N330S |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,202,499 (GRCm39) |
W25R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,656,855 (GRCm39) |
H501Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,741,839 (GRCm39) |
D2114G |
probably damaging |
Het |
| Serinc2 |
G |
T |
4: 130,149,314 (GRCm39) |
T351K |
possibly damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,186,427 (GRCm39) |
V905G |
probably damaging |
Het |
| Tekt3 |
G |
C |
11: 62,985,573 (GRCm39) |
A460P |
probably damaging |
Het |
| Tm4sf1 |
T |
G |
3: 57,200,289 (GRCm39) |
I109L |
possibly damaging |
Het |
| Tmc5 |
A |
T |
7: 118,269,948 (GRCm39) |
E899D |
probably damaging |
Het |
| Tmem268 |
C |
T |
4: 63,486,746 (GRCm39) |
P90S |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,717 (GRCm39) |
M55V |
probably benign |
Het |
| Trip10 |
T |
G |
17: 57,557,963 (GRCm39) |
V50G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,942 (GRCm39) |
C990* |
probably null |
Het |
| Uts2 |
A |
G |
4: 151,083,506 (GRCm39) |
D39G |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,964,560 (GRCm39) |
C49* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,440,146 (GRCm39) |
N431K |
probably null |
Het |
| Yeats2 |
C |
A |
16: 20,026,513 (GRCm39) |
Y796* |
probably null |
Het |
| Zfp592 |
G |
A |
7: 80,687,645 (GRCm39) |
G890D |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Slc22a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02033:Slc22a12
|
APN |
19 |
6,587,844 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02586:Slc22a12
|
APN |
19 |
6,590,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
mutual
|
UTSW |
19 |
6,592,683 (GRCm39) |
nonsense |
probably null |
|
|
reinforcement
|
UTSW |
19 |
6,587,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1353:Slc22a12
|
UTSW |
19 |
6,587,812 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1757:Slc22a12
|
UTSW |
19 |
6,586,761 (GRCm39) |
splice site |
probably null |
|
|
R1816:Slc22a12
|
UTSW |
19 |
6,592,683 (GRCm39) |
nonsense |
probably null |
|
|
R2254:Slc22a12
|
UTSW |
19 |
6,592,571 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4110:Slc22a12
|
UTSW |
19 |
6,590,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4125:Slc22a12
|
UTSW |
19 |
6,588,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4342:Slc22a12
|
UTSW |
19 |
6,591,129 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4762:Slc22a12
|
UTSW |
19 |
6,588,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4927:Slc22a12
|
UTSW |
19 |
6,587,791 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5690:Slc22a12
|
UTSW |
19 |
6,586,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5772:Slc22a12
|
UTSW |
19 |
6,590,479 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6137:Slc22a12
|
UTSW |
19 |
6,592,754 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7740:Slc22a12
|
UTSW |
19 |
6,587,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7978:Slc22a12
|
UTSW |
19 |
6,586,938 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8028:Slc22a12
|
UTSW |
19 |
6,588,469 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8508:Slc22a12
|
UTSW |
19 |
6,592,467 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8992:Slc22a12
|
UTSW |
19 |
6,592,514 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9559:Slc22a12
|
UTSW |
19 |
6,587,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Slc22a12
|
UTSW |
19 |
6,587,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9716:Slc22a12
|
UTSW |
19 |
6,586,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0062:Slc22a12
|
UTSW |
19 |
6,587,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Slc22a12
|
UTSW |
19 |
6,588,493 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1177:Slc22a12
|
UTSW |
19 |
6,590,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGGACAGGATGCAGAGTC -3'
(R):5'- TCTAATCAGTGGAAGCTAGAGCC -3'
Sequencing Primer
(F):5'- ATGCAGAGTCCGGGGAGC -3'
(R):5'- GCTAGAGCCAATGGGATAGCATCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation