Incidental Mutation 'IGL02871:Slc22a13'
| ID |
362583 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a13
|
| Ensembl Gene |
ENSMUSG00000074028 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 13 |
| Synonyms |
OCTL3, OCTL1, ORCTL3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119022040-119038164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119025077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 200
(T200A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084797]
[ENSMUST00000170400]
|
| AlphaFold |
Q6A4L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084797
AA Change: T200A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000081855
Gene: ENSMUSG00000074028
AA Change: T200A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
104 |
514 |
2.2e-41 |
PFAM |
|
Pfam:MFS_1
|
133 |
468 |
2.6e-26 |
PFAM |
|
Pfam:MFS_1
|
355 |
537 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170400
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
150 |
555 |
1.2e-28 |
PFAM |
|
Pfam:MFS_1
|
178 |
514 |
7.6e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Nt5c1b |
G |
A |
12: 10,431,325 (GRCm39) |
M409I |
probably damaging |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
possibly damaging |
Het |
|
| Other mutations in Slc22a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02828:Slc22a13
|
APN |
9 |
119,024,773 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0764:Slc22a13
|
UTSW |
9 |
119,037,746 (GRCm39) |
splice site |
probably null |
|
|
R1469:Slc22a13
|
UTSW |
9 |
119,022,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1469:Slc22a13
|
UTSW |
9 |
119,022,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1545:Slc22a13
|
UTSW |
9 |
119,038,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2154:Slc22a13
|
UTSW |
9 |
119,037,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2321:Slc22a13
|
UTSW |
9 |
119,024,694 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3808:Slc22a13
|
UTSW |
9 |
119,025,143 (GRCm39) |
missense |
probably benign |
|
|
R3840:Slc22a13
|
UTSW |
9 |
119,037,855 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4736:Slc22a13
|
UTSW |
9 |
119,022,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Slc22a13
|
UTSW |
9 |
119,037,778 (GRCm39) |
nonsense |
probably null |
|
|
R6899:Slc22a13
|
UTSW |
9 |
119,025,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Slc22a13
|
UTSW |
9 |
119,024,226 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8755:Slc22a13
|
UTSW |
9 |
119,038,126 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
|
Z1177:Slc22a13
|
UTSW |
9 |
119,022,370 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation