Incidental Mutation 'IGL02386:Slc22a4'
| ID |
291572 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a4
|
| Ensembl Gene |
ENSMUSG00000020334 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 4 |
| Synonyms |
Octn1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
IGL02386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53873949-53918916 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 53879598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
|
| AlphaFold |
Q9Z306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020586
|
| SMART Domains |
Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
60 |
524 |
2.7e-30 |
PFAM |
|
Pfam:MFS_1
|
139 |
478 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146351
|
| 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. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,953,472 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd17b |
T |
C |
19: 21,658,263 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Ablim1 |
T |
C |
19: 57,123,086 (GRCm39) |
D167G |
probably damaging |
Het |
| Bpnt1 |
G |
T |
1: 185,070,372 (GRCm39) |
K21N |
probably damaging |
Het |
| Cables2 |
A |
G |
2: 179,903,431 (GRCm39) |
V251A |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,438 (GRCm39) |
L269P |
probably damaging |
Het |
| Dhodh |
A |
G |
8: 110,321,396 (GRCm39) |
I330T |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,340,527 (GRCm39) |
D2311E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,074,428 (GRCm39) |
D128G |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,410,056 (GRCm39) |
I508N |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,742,580 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
T |
A |
11: 52,664,698 (GRCm39) |
H9Q |
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,542,063 (GRCm39) |
M269L |
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,398,983 (GRCm39) |
R83L |
unknown |
Het |
| Gss |
A |
G |
2: 155,415,090 (GRCm39) |
V205A |
probably benign |
Het |
| Ifi30 |
A |
G |
8: 71,217,405 (GRCm39) |
|
probably benign |
Het |
| Itch |
T |
A |
2: 155,044,181 (GRCm39) |
Y495* |
probably null |
Het |
| Lilrb4a |
C |
T |
10: 51,367,322 (GRCm39) |
Q22* |
probably null |
Het |
| Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
| Myh8 |
T |
A |
11: 67,185,266 (GRCm39) |
I839N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,724,319 (GRCm39) |
G1122E |
probably damaging |
Het |
| Ntan1 |
T |
A |
16: 13,653,063 (GRCm39) |
M273K |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,656,739 (GRCm39) |
K1548R |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,469,161 (GRCm39) |
V1260A |
probably damaging |
Het |
| Or4b12 |
T |
A |
2: 90,096,295 (GRCm39) |
I160F |
probably damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,888 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,172,636 (GRCm39) |
S669G |
possibly damaging |
Het |
| Ppargc1b |
T |
C |
18: 61,456,222 (GRCm39) |
D79G |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,486,202 (GRCm39) |
T278A |
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,494,386 (GRCm39) |
M833K |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Susd2 |
A |
T |
10: 75,475,929 (GRCm39) |
Y357N |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,015,659 (GRCm39) |
S91Y |
possibly damaging |
Het |
| Tgfbrap1 |
C |
A |
1: 43,114,981 (GRCm39) |
G40C |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,050,069 (GRCm39) |
S94P |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,301,941 (GRCm39) |
T117A |
possibly damaging |
Het |
| Usp48 |
A |
C |
4: 137,331,834 (GRCm39) |
R73S |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,297,352 (GRCm39) |
D685E |
possibly damaging |
Het |
|
| Other mutations in Slc22a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Slc22a4
|
APN |
11 |
53,877,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01723:Slc22a4
|
APN |
11 |
53,879,671 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01839:Slc22a4
|
APN |
11 |
53,886,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02022:Slc22a4
|
APN |
11 |
53,874,435 (GRCm39) |
unclassified |
probably benign |
|
|
PIT1430001:Slc22a4
|
UTSW |
11 |
53,918,783 (GRCm39) |
missense |
probably benign |
|
|
R0001:Slc22a4
|
UTSW |
11 |
53,918,829 (GRCm39) |
start gained |
probably benign |
|
|
R1111:Slc22a4
|
UTSW |
11 |
53,898,667 (GRCm39) |
missense |
probably benign |
|
|
R1710:Slc22a4
|
UTSW |
11 |
53,918,801 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R2104:Slc22a4
|
UTSW |
11 |
53,874,436 (GRCm39) |
unclassified |
probably benign |
|
|
R3081:Slc22a4
|
UTSW |
11 |
53,898,615 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3498:Slc22a4
|
UTSW |
11 |
53,882,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4014:Slc22a4
|
UTSW |
11 |
53,888,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4658:Slc22a4
|
UTSW |
11 |
53,888,336 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4720:Slc22a4
|
UTSW |
11 |
53,879,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Slc22a4
|
UTSW |
11 |
53,918,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5894:Slc22a4
|
UTSW |
11 |
53,888,341 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5945:Slc22a4
|
UTSW |
11 |
53,886,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Slc22a4
|
UTSW |
11 |
53,898,634 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6848:Slc22a4
|
UTSW |
11 |
53,898,615 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6899:Slc22a4
|
UTSW |
11 |
53,879,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Slc22a4
|
UTSW |
11 |
53,877,364 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7414:Slc22a4
|
UTSW |
11 |
53,888,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7806:Slc22a4
|
UTSW |
11 |
53,881,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Slc22a4
|
UTSW |
11 |
53,888,269 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8087:Slc22a4
|
UTSW |
11 |
53,886,887 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8218:Slc22a4
|
UTSW |
11 |
53,877,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8971:Slc22a4
|
UTSW |
11 |
53,879,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Slc22a4
|
UTSW |
11 |
53,881,664 (GRCm39) |
nonsense |
probably null |
|
|
R9296:Slc22a4
|
UTSW |
11 |
53,888,217 (GRCm39) |
nonsense |
probably null |
|
|
R9484:Slc22a4
|
UTSW |
11 |
53,879,773 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9679:Slc22a4
|
UTSW |
11 |
53,881,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc22a4
|
UTSW |
11 |
53,918,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation