Incidental Mutation 'IGL03382:Slc22a19'
| ID |
420722 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a19
|
| Ensembl Gene |
ENSMUSG00000024757 |
| Gene Name |
solute carrier family 22 (organic anion transporter), member 19 |
| Synonyms |
Slc22a9, Oat5, D630043A20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7650440-7688675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7659227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 463
(I463L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025666]
|
| AlphaFold |
Q8VCA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025666
AA Change: I463L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: I463L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
103 |
528 |
6.3e-22 |
PFAM |
|
Pfam:MFS_1
|
122 |
378 |
2.4e-20 |
PFAM |
|
Pfam:MFS_1
|
377 |
549 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138317
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,988,926 (GRCm39) |
D831G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,331 (GRCm39) |
K509E |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,808,771 (GRCm39) |
K449E |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,855,828 (GRCm39) |
P459L |
probably benign |
Het |
| Atr |
C |
T |
9: 95,802,875 (GRCm39) |
R1846* |
probably null |
Het |
| Brd10 |
C |
T |
19: 29,694,676 (GRCm39) |
G1606R |
probably damaging |
Het |
| Ccdc159 |
C |
A |
9: 21,842,992 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
A |
C |
3: 54,954,698 (GRCm39) |
Y338D |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,213,089 (GRCm39) |
E36V |
probably damaging |
Het |
| Cyp2c23 |
A |
G |
19: 44,003,371 (GRCm39) |
I268T |
probably damaging |
Het |
| Dctn2 |
G |
T |
10: 127,114,057 (GRCm39) |
Q332H |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,972,769 (GRCm39) |
I2055F |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,528,279 (GRCm39) |
H764R |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,528,087 (GRCm39) |
I135K |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,409 (GRCm39) |
M1T |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,519,714 (GRCm39) |
D406G |
probably benign |
Het |
| Klk10 |
G |
T |
7: 43,433,883 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,367,616 (GRCm39) |
W53R |
probably benign |
Het |
| Magel2 |
T |
C |
7: 62,028,461 (GRCm39) |
V455A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,442 (GRCm39) |
T98A |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 146,951,373 (GRCm39) |
C76* |
probably null |
Het |
| Myh7b |
C |
T |
2: 155,465,399 (GRCm39) |
R701C |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,215,720 (GRCm39) |
M196L |
probably benign |
Het |
| Nmd3 |
A |
G |
3: 69,642,421 (GRCm39) |
K207R |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,179,129 (GRCm39) |
R962Q |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,421,261 (GRCm39) |
K230E |
unknown |
Het |
| Psme4 |
A |
G |
11: 30,757,788 (GRCm39) |
D307G |
possibly damaging |
Het |
| Rnf41 |
T |
G |
10: 128,274,149 (GRCm39) |
M267R |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,836,052 (GRCm39) |
N846D |
probably benign |
Het |
| Slc25a39 |
A |
T |
11: 102,297,030 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
C |
T |
17: 45,877,571 (GRCm39) |
R233C |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,376,695 (GRCm39) |
L983P |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,159,984 (GRCm39) |
Y123C |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,906,056 (GRCm39) |
I395S |
probably benign |
Het |
| Triml2 |
A |
G |
8: 43,646,776 (GRCm39) |
T422A |
probably benign |
Het |
| Ubn2 |
T |
C |
6: 38,417,382 (GRCm39) |
|
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,555 (GRCm39) |
M141K |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,362 (GRCm39) |
E333G |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,639 (GRCm39) |
|
probably benign |
Het |
| Zfp942 |
G |
A |
17: 22,148,083 (GRCm39) |
P182L |
probably benign |
Het |
|
| Other mutations in Slc22a19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Slc22a19
|
APN |
19 |
7,660,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01126:Slc22a19
|
APN |
19 |
7,651,648 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01349:Slc22a19
|
APN |
19 |
7,651,792 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01409:Slc22a19
|
APN |
19 |
7,688,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01529:Slc22a19
|
APN |
19 |
7,660,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0269:Slc22a19
|
UTSW |
19 |
7,686,986 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Slc22a19
|
UTSW |
19 |
7,660,278 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1866:Slc22a19
|
UTSW |
19 |
7,688,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1975:Slc22a19
|
UTSW |
19 |
7,661,224 (GRCm39) |
splice site |
probably benign |
|
|
R2184:Slc22a19
|
UTSW |
19 |
7,687,026 (GRCm39) |
missense |
probably benign |
|
|
R2226:Slc22a19
|
UTSW |
19 |
7,661,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2894:Slc22a19
|
UTSW |
19 |
7,670,169 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4751:Slc22a19
|
UTSW |
19 |
7,668,510 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5016:Slc22a19
|
UTSW |
19 |
7,651,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5026:Slc22a19
|
UTSW |
19 |
7,651,737 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5108:Slc22a19
|
UTSW |
19 |
7,688,536 (GRCm39) |
missense |
probably benign |
|
|
R5149:Slc22a19
|
UTSW |
19 |
7,688,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Slc22a19
|
UTSW |
19 |
7,688,387 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6062:Slc22a19
|
UTSW |
19 |
7,651,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Slc22a19
|
UTSW |
19 |
7,688,428 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6982:Slc22a19
|
UTSW |
19 |
7,660,334 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7624:Slc22a19
|
UTSW |
19 |
7,671,183 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7624:Slc22a19
|
UTSW |
19 |
7,650,668 (GRCm39) |
nonsense |
probably null |
|
|
R7678:Slc22a19
|
UTSW |
19 |
7,688,302 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7743:Slc22a19
|
UTSW |
19 |
7,661,201 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7770:Slc22a19
|
UTSW |
19 |
7,681,360 (GRCm39) |
splice site |
probably null |
|
|
R8769:Slc22a19
|
UTSW |
19 |
7,670,086 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8861:Slc22a19
|
UTSW |
19 |
7,660,324 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9418:Slc22a19
|
UTSW |
19 |
7,660,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9548:Slc22a19
|
UTSW |
19 |
7,659,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9742:Slc22a19
|
UTSW |
19 |
7,688,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Slc22a19
|
UTSW |
19 |
7,688,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation