Incidental Mutation 'R3498:Slc22a4'
| ID |
273672 |
| 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 |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53873949-53918916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53882879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 328
(K328N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020586]
|
| AlphaFold |
Q9Z306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020586
AA Change: K328N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
AA Change: K328N
| 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
|
| Meta Mutation Damage Score |
0.1311 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
probably benign |
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 |
|
|
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 |
|
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'- CCCTTTTGCTGTAGGCGAAG -3'
(R):5'- CAGCCCTCAACTTCTGAACTTG -3'
Sequencing Primer
(F):5'- GCCTAGGCTTCGTCACATC -3'
(R):5'- CCAGGATGTAGTTCAGTGCAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation