Incidental Mutation 'IGL02022:Slc22a4'
ID |
184016 |
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 # |
IGL02022
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
53873949-53918916 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 53874435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
[ENSMUST00000076493]
[ENSMUST00000124221]
|
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 |
probably benign
Transcript: ENSMUST00000076493
|
SMART Domains |
Protein: ENSMUSP00000075814 Gene: ENSMUSG00000063652
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Sugar_tr
|
74 |
527 |
3.1e-31 |
PFAM |
Pfam:MFS_1
|
139 |
376 |
3e-13 |
PFAM |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124221
|
SMART Domains |
Protein: ENSMUSP00000123180 Gene: ENSMUSG00000063652
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
C |
5: 146,120,358 (GRCm39) |
Y160C |
probably damaging |
Het |
Abi3bp |
T |
C |
16: 56,412,999 (GRCm39) |
S314P |
probably damaging |
Het |
Abra |
T |
C |
15: 41,732,802 (GRCm39) |
H88R |
probably benign |
Het |
Bsn |
A |
G |
9: 107,987,617 (GRCm39) |
|
probably benign |
Het |
Chd3 |
A |
C |
11: 69,251,886 (GRCm39) |
C123G |
probably damaging |
Het |
Clca3b |
A |
C |
3: 144,547,171 (GRCm39) |
|
probably null |
Het |
Cnot7 |
G |
T |
8: 40,952,386 (GRCm39) |
P190T |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,212,031 (GRCm39) |
|
probably benign |
Het |
Dennd2d |
A |
G |
3: 106,407,220 (GRCm39) |
T424A |
probably benign |
Het |
Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
Efhd1 |
G |
A |
1: 87,192,334 (GRCm39) |
E55K |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,495,638 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Klhl3 |
A |
T |
13: 58,198,878 (GRCm39) |
S201T |
possibly damaging |
Het |
Krt1c |
A |
G |
15: 101,724,953 (GRCm39) |
F219S |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,172,172 (GRCm39) |
D751N |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,838,629 (GRCm39) |
C1848* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,284,842 (GRCm39) |
|
probably null |
Het |
Med10 |
T |
C |
13: 69,961,819 (GRCm39) |
|
probably benign |
Het |
Msh4 |
T |
A |
3: 153,592,593 (GRCm39) |
T170S |
probably damaging |
Het |
Or52n3 |
T |
C |
7: 104,530,141 (GRCm39) |
C76R |
probably damaging |
Het |
Pelp1 |
T |
A |
11: 70,297,153 (GRCm39) |
|
probably benign |
Het |
Prex2 |
G |
A |
1: 11,367,963 (GRCm39) |
V1595I |
probably benign |
Het |
Prpf8 |
C |
T |
11: 75,392,660 (GRCm39) |
R1617* |
probably null |
Het |
Rabep1 |
T |
A |
11: 70,825,385 (GRCm39) |
L684Q |
probably damaging |
Het |
Smox |
T |
C |
2: 131,362,037 (GRCm39) |
F153S |
probably damaging |
Het |
Tma16 |
A |
G |
8: 66,939,062 (GRCm39) |
|
probably null |
Het |
Unc80 |
G |
T |
1: 66,665,675 (GRCm39) |
R1814L |
possibly damaging |
Het |
Vmn2r108 |
C |
T |
17: 20,691,987 (GRCm39) |
D179N |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,236,126 (GRCm39) |
E1199G |
probably benign |
Het |
Zic1 |
C |
A |
9: 91,244,525 (GRCm39) |
|
probably null |
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 |
IGL02386:Slc22a4
|
APN |
11 |
53,879,598 (GRCm39) |
splice site |
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 |
2014-05-07 |