Incidental Mutation 'R1414:Slc22a1'
ID |
159757 |
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 |
039470-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1414 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
12867756-12894716 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 12881487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 334
(S334L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024596]
|
AlphaFold |
O08966 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024596
AA Change: S334L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024596 Gene: ENSMUSG00000023829 AA Change: S334L
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 |
|
Meta Mutation Damage Score |
0.3182 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.2%
|
Validation Efficiency |
97% (36/37) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
T |
A |
15: 64,030,733 (GRCm39) |
S315C |
possibly damaging |
Het |
Cdc27 |
A |
G |
11: 104,412,251 (GRCm39) |
V452A |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
C |
A |
2: 80,178,021 (GRCm39) |
T676K |
probably damaging |
Het |
Efhc1 |
C |
T |
1: 21,031,513 (GRCm39) |
T237I |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,640,462 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,020,219 (GRCm39) |
D1069G |
probably benign |
Het |
Hspa9 |
T |
C |
18: 35,071,644 (GRCm39) |
Y652C |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,377,857 (GRCm39) |
I313V |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mxra8 |
A |
G |
4: 155,925,464 (GRCm39) |
M58V |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,989,491 (GRCm39) |
E1537G |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,357 (GRCm39) |
M645V |
probably benign |
Het |
Nlrp4d |
T |
A |
7: 10,116,528 (GRCm39) |
I118F |
probably benign |
Het |
Oas1f |
A |
G |
5: 120,989,522 (GRCm39) |
|
probably benign |
Het |
Pkp1 |
A |
G |
1: 135,811,823 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,940,385 (GRCm39) |
Y428C |
probably damaging |
Het |
Pomt1 |
C |
A |
2: 32,133,622 (GRCm39) |
|
probably benign |
Het |
Prex1 |
G |
A |
2: 166,435,781 (GRCm39) |
R589C |
probably damaging |
Het |
Prr5 |
C |
T |
15: 84,583,912 (GRCm39) |
Q171* |
probably null |
Het |
Ptar1 |
T |
A |
19: 23,697,655 (GRCm39) |
L389Q |
possibly damaging |
Het |
Rufy2 |
T |
A |
10: 62,837,978 (GRCm39) |
L375* |
probably null |
Het |
Slc34a1 |
T |
C |
13: 55,548,524 (GRCm39) |
S45P |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tafa4 |
A |
G |
6: 96,991,440 (GRCm39) |
V3A |
probably benign |
Het |
Tnc |
A |
G |
4: 63,883,932 (GRCm39) |
|
probably benign |
Het |
Tpm3-rs7 |
T |
C |
14: 113,552,274 (GRCm39) |
I56T |
possibly damaging |
Het |
Zbtb11 |
T |
A |
16: 55,810,923 (GRCm39) |
C360* |
probably null |
Het |
Zfp263 |
T |
C |
16: 3,567,160 (GRCm39) |
C204R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGAAGACTCAGGCGTCAGGAC -3'
(R):5'- AGCCATGCATCGAACGGATCAC -3'
Sequencing Primer
(F):5'- CGTCAGGACTGTGCTGAG -3'
(R):5'- TCGAACGGATCACTCTTGCTAAG -3'
|
Posted On |
2014-03-14 |