Incidental Mutation 'IGL01839:Slc22a4'
| ID |
155040 |
| 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 # |
IGL01839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53873949-53918916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53886903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 280
(S280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
|
| AlphaFold |
Q9Z306 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020586
AA Change: S280T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
AA Change: S280T
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
A |
12: 113,508,242 (GRCm39) |
L205Q |
probably benign |
Het |
| Cadps |
G |
T |
14: 12,467,184 (GRCm38) |
|
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,676,027 (GRCm39) |
Q223* |
probably null |
Het |
| Col11a2 |
G |
A |
17: 34,283,056 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,350,990 (GRCm39) |
V28A |
unknown |
Het |
| Cyp17a1 |
A |
G |
19: 46,659,110 (GRCm39) |
I177T |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,782 (GRCm39) |
L274P |
probably damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,732,971 (GRCm39) |
R431G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,168 (GRCm39) |
N2278S |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,423,694 (GRCm39) |
A756E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,909 (GRCm39) |
Y1087C |
probably damaging |
Het |
| Khdrbs2 |
T |
C |
1: 32,453,943 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
A |
G |
5: 124,589,417 (GRCm39) |
K205R |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,607,975 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
T |
C |
12: 84,840,432 (GRCm39) |
S1045G |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,228,607 (GRCm39) |
M505V |
probably benign |
Het |
| Oit3 |
C |
T |
10: 59,265,318 (GRCm39) |
V316I |
probably damaging |
Het |
| Or1e1f |
T |
A |
11: 73,855,437 (GRCm39) |
M1K |
probably null |
Het |
| Or5b119 |
T |
C |
19: 13,456,804 (GRCm39) |
T253A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,502 (GRCm39) |
N294I |
probably damaging |
Het |
| Pld4 |
A |
T |
12: 112,731,513 (GRCm39) |
H222L |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,421,394 (GRCm39) |
|
probably benign |
Het |
| Sgms2 |
T |
C |
3: 131,135,751 (GRCm39) |
K41R |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 23,996,668 (GRCm39) |
S58P |
possibly damaging |
Het |
| Slc7a15 |
C |
T |
12: 8,589,365 (GRCm39) |
G61S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,685 (GRCm39) |
K2190E |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,644,702 (GRCm39) |
Q13017H |
probably 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 |
|
IGL02022:Slc22a4
|
APN |
11 |
53,874,435 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation