Incidental Mutation 'IGL01124:Slc22a1'
ID |
53095 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a1
|
Ensembl Gene |
ENSMUSG00000023829 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 1 |
Synonyms |
Oct1, Lx1, Orct1, Oct1, Orct |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01124
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
12867756-12894716 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 12869749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024596]
|
AlphaFold |
O08966 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024596
|
SMART Domains |
Protein: ENSMUSP00000024596 Gene: ENSMUSG00000023829
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
134 |
482 |
1.3e-25 |
PFAM |
Pfam:Sugar_tr
|
143 |
529 |
5.3e-33 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knockout allele are viable, healthy, and fertile but exhibit an impaired liver uptake and direct intestinal excretion of substrate organic cations. Mice homozygous for a different knockout allele show alterations in metformin disposition and its glucose-lowering effects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
Other mutations in Slc22a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02313:Slc22a1
|
APN |
17 |
12,894,387 (GRCm39) |
nonsense |
probably null |
|
IGL02578:Slc22a1
|
APN |
17 |
12,886,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R0017:Slc22a1
|
UTSW |
17 |
12,878,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Slc22a1
|
UTSW |
17 |
12,881,483 (GRCm39) |
missense |
probably benign |
0.03 |
R0306:Slc22a1
|
UTSW |
17 |
12,881,485 (GRCm39) |
missense |
probably benign |
0.03 |
R0408:Slc22a1
|
UTSW |
17 |
12,875,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R0487:Slc22a1
|
UTSW |
17 |
12,881,487 (GRCm39) |
nonsense |
probably null |
|
R0654:Slc22a1
|
UTSW |
17 |
12,881,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0811:Slc22a1
|
UTSW |
17 |
12,885,505 (GRCm39) |
splice site |
probably benign |
|
R0866:Slc22a1
|
UTSW |
17 |
12,875,933 (GRCm39) |
missense |
probably benign |
0.00 |
R1414:Slc22a1
|
UTSW |
17 |
12,881,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Slc22a1
|
UTSW |
17 |
12,881,780 (GRCm39) |
splice site |
probably null |
|
R4801:Slc22a1
|
UTSW |
17 |
12,894,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Slc22a1
|
UTSW |
17 |
12,894,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Slc22a1
|
UTSW |
17 |
12,886,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R5147:Slc22a1
|
UTSW |
17 |
12,869,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R6816:Slc22a1
|
UTSW |
17 |
12,871,370 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6875:Slc22a1
|
UTSW |
17 |
12,886,192 (GRCm39) |
nonsense |
probably null |
|
R7263:Slc22a1
|
UTSW |
17 |
12,885,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Slc22a1
|
UTSW |
17 |
12,875,892 (GRCm39) |
missense |
probably benign |
0.09 |
R7947:Slc22a1
|
UTSW |
17 |
12,871,310 (GRCm39) |
missense |
probably benign |
0.00 |
R9123:Slc22a1
|
UTSW |
17 |
12,878,598 (GRCm39) |
missense |
probably benign |
0.00 |
R9125:Slc22a1
|
UTSW |
17 |
12,878,598 (GRCm39) |
missense |
probably benign |
0.00 |
R9336:Slc22a1
|
UTSW |
17 |
12,886,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |