Incidental Mutation 'R5147:Slc22a1'
ID |
395172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a1
|
Ensembl Gene |
ENSMUSG00000023829 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 1 |
Synonyms |
Oct1, Lx1, Orct1, Oct1, Orct |
MMRRC Submission |
042731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
12867756-12894716 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12869838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 508
(G508R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024596]
|
AlphaFold |
O08966 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024596
AA Change: G508R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000024596 Gene: ENSMUSG00000023829 AA Change: G508R
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,041,176 (GRCm39) |
D556G |
probably damaging |
Het |
Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
probably damaging |
Het |
|
Other mutations in Slc22a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01124:Slc22a1
|
APN |
17 |
12,869,749 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGATAACTGAGAATGTGCTG -3'
(R):5'- TGGAATCCGCTTCTGTAGTG -3'
Sequencing Primer
(F):5'- GCAATGCTGGGACCCTTTACAG -3'
(R):5'- CGCTTCTGTAGTGGCAAATAC -3'
|
Posted On |
2016-06-21 |