Incidental Mutation 'R2988:Slc22a8'
| ID |
257849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a8
|
| Ensembl Gene |
ENSMUSG00000063796 |
| Gene Name |
solute carrier family 22 (organic anion transporter), member 8 |
| Synonyms |
OAT3, mOat3, Roct |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2988 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8568618-8589199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8587612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 529
(T529A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010251]
[ENSMUST00000170817]
|
| AlphaFold |
O88909 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010251
AA Change: T529A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: T529A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
73 |
506 |
6.8e-33 |
PFAM |
|
Pfam:MFS_1
|
97 |
461 |
6.7e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170817
AA Change: T529A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: T529A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
78 |
507 |
6.7e-34 |
PFAM |
|
Pfam:MFS_1
|
97 |
461 |
6.8e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased urinary urate levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
C |
A |
12: 80,239,162 (GRCm39) |
A248S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,757,088 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,172 (GRCm39) |
I940F |
probably benign |
Het |
| Lipk |
T |
C |
19: 33,999,137 (GRCm39) |
F139S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,015,349 (GRCm39) |
N285S |
probably damaging |
Het |
| Or1r1 |
C |
A |
11: 73,874,627 (GRCm39) |
R269L |
probably benign |
Het |
| Or5p60 |
G |
A |
7: 107,724,045 (GRCm39) |
Q142* |
probably null |
Het |
| Ptpro |
C |
T |
6: 137,420,597 (GRCm39) |
Q188* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,808 (GRCm39) |
M1242K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,682,709 (GRCm39) |
S591T |
probably benign |
Het |
| Tmem161b |
C |
T |
13: 84,440,574 (GRCm39) |
R149* |
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,332 (GRCm39) |
V170A |
probably damaging |
Het |
|
| Other mutations in Slc22a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Slc22a8
|
APN |
19 |
8,571,499 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL00679:Slc22a8
|
APN |
19 |
8,582,219 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL00717:Slc22a8
|
APN |
19 |
8,587,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00974:Slc22a8
|
APN |
19 |
8,587,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Slc22a8
|
APN |
19 |
8,585,329 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01975:Slc22a8
|
APN |
19 |
8,582,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02025:Slc22a8
|
APN |
19 |
8,571,539 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02353:Slc22a8
|
APN |
19 |
8,585,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02360:Slc22a8
|
APN |
19 |
8,585,619 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02535:Slc22a8
|
APN |
19 |
8,587,567 (GRCm39) |
missense |
probably benign |
|
|
IGL02639:Slc22a8
|
APN |
19 |
8,571,323 (GRCm39) |
missense |
probably benign |
|
|
IGL03167:Slc22a8
|
APN |
19 |
8,587,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Slc22a8
|
APN |
19 |
8,586,483 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Slc22a8
|
UTSW |
19 |
8,585,514 (GRCm39) |
splice site |
probably benign |
|
|
R1290:Slc22a8
|
UTSW |
19 |
8,587,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Slc22a8
|
UTSW |
19 |
8,571,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Slc22a8
|
UTSW |
19 |
8,583,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Slc22a8
|
UTSW |
19 |
8,587,559 (GRCm39) |
missense |
probably benign |
|
|
R3914:Slc22a8
|
UTSW |
19 |
8,585,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Slc22a8
|
UTSW |
19 |
8,585,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5092:Slc22a8
|
UTSW |
19 |
8,571,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5463:Slc22a8
|
UTSW |
19 |
8,586,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5470:Slc22a8
|
UTSW |
19 |
8,585,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6733:Slc22a8
|
UTSW |
19 |
8,586,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7009:Slc22a8
|
UTSW |
19 |
8,582,781 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7642:Slc22a8
|
UTSW |
19 |
8,587,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7684:Slc22a8
|
UTSW |
19 |
8,587,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7689:Slc22a8
|
UTSW |
19 |
8,585,248 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7729:Slc22a8
|
UTSW |
19 |
8,571,323 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7879:Slc22a8
|
UTSW |
19 |
8,571,386 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8030:Slc22a8
|
UTSW |
19 |
8,587,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8113:Slc22a8
|
UTSW |
19 |
8,582,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8280:Slc22a8
|
UTSW |
19 |
8,586,627 (GRCm39) |
nonsense |
probably null |
|
|
R8492:Slc22a8
|
UTSW |
19 |
8,571,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8509:Slc22a8
|
UTSW |
19 |
8,585,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8956:Slc22a8
|
UTSW |
19 |
8,587,030 (GRCm39) |
nonsense |
probably null |
|
|
R9074:Slc22a8
|
UTSW |
19 |
8,587,025 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9158:Slc22a8
|
UTSW |
19 |
8,583,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Slc22a8
|
UTSW |
19 |
8,571,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Slc22a8
|
UTSW |
19 |
8,571,286 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Slc22a8
|
UTSW |
19 |
8,582,787 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCTTACCAGAAACTATCGAG -3'
(R):5'- TATGGCTAGGGCTGTGAACAG -3'
Sequencing Primer
(F):5'- CTATCGAGGACATACAAGACTGGTG -3'
(R):5'- TGTGAACAGGCCAGGTCTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation