Incidental Mutation 'R1111:Slc22a4'
ID |
96753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc22a4
|
Ensembl Gene |
ENSMUSG00000020334 |
Gene Name |
solute carrier family 22 (organic cation transporter), member 4 |
Synonyms |
Octn1 |
MMRRC Submission |
039184-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R1111 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
53873949-53918916 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53898667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 142
(T142A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
|
AlphaFold |
Q9Z306 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020586
AA Change: T142A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020586 Gene: ENSMUSG00000020334 AA Change: T142A
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.4%
|
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: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adsl |
T |
A |
15: 80,851,861 (GRCm39) |
N421K |
probably damaging |
Het |
Crip2 |
C |
T |
12: 113,107,694 (GRCm39) |
Q86* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Kcp |
T |
C |
6: 29,485,422 (GRCm39) |
S1191G |
probably benign |
Het |
Nr5a2 |
A |
T |
1: 136,810,159 (GRCm39) |
|
probably null |
Het |
Or7g17 |
A |
T |
9: 18,768,888 (GRCm39) |
*313C |
probably null |
Het |
Rdm1 |
T |
C |
11: 101,524,721 (GRCm39) |
V218A |
probably benign |
Het |
Tgfbrap1 |
G |
A |
1: 43,091,136 (GRCm39) |
A663V |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,053,115 (GRCm39) |
N1282D |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,916,823 (GRCm39) |
S768G |
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 |
IGL01839:Slc22a4
|
APN |
11 |
53,886,903 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCTTCCCTGTGTAGAAAGCCC -3'
(R):5'- AAGCGGTTAAAGCCATCTCCTTCC -3'
Sequencing Primer
(F):5'- AGCCCATGAATTTGATCTTGTGTC -3'
(R):5'- tcaatgagggactttggcac -3'
|
Posted On |
2014-01-05 |