Incidental Mutation 'R0654:Slc22a1'
| ID |
62447 |
| 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 |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
12867756-12894716 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12881679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 310
(N310I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024596]
|
| AlphaFold |
O08966 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024596
AA Change: N310I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024596
Gene: ENSMUSG00000023829
AA Change: N310I
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGGCATCTTCCTCAAGGCAC -3'
(R):5'- CAAGCATCCAGGGGAATCACAGTC -3'
Sequencing Primer
(F):5'- CTCAAGGCACATCATCTGGGAG -3'
(R):5'- GGGAATCACAGTCCTCCTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation