Incidental Mutation 'R5094:Slc22a6'
| ID |
388008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a6
|
| Ensembl Gene |
ENSMUSG00000024650 |
| Gene Name |
solute carrier family 22 (organic anion transporter), member 6 |
| Synonyms |
mOat1, Orctl1, NKT, Oat1 |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5094 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8595403-8605663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8603541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 535
(L535P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010250]
|
| AlphaFold |
Q8VC69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010250
AA Change: L535P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: L535P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
107 |
467 |
2.4e-25 |
PFAM |
|
Pfam:Sugar_tr
|
107 |
512 |
8e-33 |
PFAM |
|
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2378 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| 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 involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,597 (GRCm39) |
I226V |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Ifit3b |
T |
A |
19: 34,589,948 (GRCm39) |
S375T |
possibly damaging |
Het |
| Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
| Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,441 (GRCm39) |
V263A |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,291,211 (GRCm39) |
S346C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
probably benign |
Het |
|
| Other mutations in Slc22a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Slc22a6
|
APN |
19 |
8,599,232 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00825:Slc22a6
|
APN |
19 |
8,595,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01362:Slc22a6
|
APN |
19 |
8,598,572 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01843:Slc22a6
|
APN |
19 |
8,603,578 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02583:Slc22a6
|
APN |
19 |
8,600,980 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1004:Slc22a6
|
UTSW |
19 |
8,595,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Slc22a6
|
UTSW |
19 |
8,596,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1911:Slc22a6
|
UTSW |
19 |
8,599,246 (GRCm39) |
missense |
probably benign |
|
|
R2365:Slc22a6
|
UTSW |
19 |
8,596,761 (GRCm39) |
missense |
probably benign |
|
|
R3406:Slc22a6
|
UTSW |
19 |
8,598,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:Slc22a6
|
UTSW |
19 |
8,595,874 (GRCm39) |
missense |
probably benign |
|
|
R4693:Slc22a6
|
UTSW |
19 |
8,601,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Slc22a6
|
UTSW |
19 |
8,595,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5360:Slc22a6
|
UTSW |
19 |
8,596,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5667:Slc22a6
|
UTSW |
19 |
8,599,148 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5810:Slc22a6
|
UTSW |
19 |
8,601,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Slc22a6
|
UTSW |
19 |
8,599,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Slc22a6
|
UTSW |
19 |
8,599,494 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6864:Slc22a6
|
UTSW |
19 |
8,595,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Slc22a6
|
UTSW |
19 |
8,599,460 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7298:Slc22a6
|
UTSW |
19 |
8,598,684 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7305:Slc22a6
|
UTSW |
19 |
8,599,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7681:Slc22a6
|
UTSW |
19 |
8,603,493 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7749:Slc22a6
|
UTSW |
19 |
8,599,260 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7937:Slc22a6
|
UTSW |
19 |
8,601,253 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8346:Slc22a6
|
UTSW |
19 |
8,599,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Slc22a6
|
UTSW |
19 |
8,599,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Slc22a6
|
UTSW |
19 |
8,599,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8363:Slc22a6
|
UTSW |
19 |
8,596,386 (GRCm39) |
missense |
probably benign |
|
|
R8698:Slc22a6
|
UTSW |
19 |
8,600,889 (GRCm39) |
missense |
probably benign |
|
|
R9431:Slc22a6
|
UTSW |
19 |
8,598,596 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9602:Slc22a6
|
UTSW |
19 |
8,598,560 (GRCm39) |
nonsense |
probably null |
|
|
R9774:Slc22a6
|
UTSW |
19 |
8,603,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Slc22a6
|
UTSW |
19 |
8,599,197 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Slc22a6
|
UTSW |
19 |
8,600,907 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTCCAAGTGGAAGATTCTCC -3'
(R):5'- CCTTTGGGGAGGCATTTCTC -3'
Sequencing Primer
(F):5'- TGTCTCTCTGCTCCAGGAAGAAG -3'
(R):5'- CATTTCTCTGAATGGCAGGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation