Incidental Mutation 'IGL00852:Slc22a19'
| ID |
278023 |
| 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 # |
IGL00852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7650440-7688675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7660323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 362
(M362I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025666]
|
| AlphaFold |
Q8VCA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025666
AA Change: M362I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: M362I
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap157 |
T |
A |
2: 32,669,827 (GRCm39) |
Q252L |
possibly damaging |
Het |
| Chd9 |
C |
A |
8: 91,699,835 (GRCm39) |
Q622K |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cypt15-ps |
A |
T |
X: 38,435,507 (GRCm39) |
R56* |
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,330,597 (GRCm39) |
L721* |
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,167,740 (GRCm39) |
V718I |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,345,638 (GRCm39) |
L214F |
probably damaging |
Het |
| Ibtk |
A |
C |
9: 85,595,654 (GRCm39) |
Y971D |
probably benign |
Het |
| Lancl1 |
G |
A |
1: 67,043,996 (GRCm39) |
L335F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,740,858 (GRCm39) |
W1035R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,515,577 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,313,723 (GRCm39) |
R1481Q |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,366,748 (GRCm39) |
N313S |
probably benign |
Het |
| Septin10 |
A |
G |
10: 59,028,642 (GRCm39) |
|
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,081,321 (GRCm39) |
|
probably null |
Het |
| Spmip4 |
T |
A |
6: 50,566,164 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
T |
A |
3: 154,760,206 (GRCm39) |
Q43L |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,964,435 (GRCm39) |
V1310D |
possibly damaging |
Het |
| Zdhhc13 |
T |
A |
7: 48,455,349 (GRCm39) |
S260R |
probably benign |
Het |
|
| Other mutations in Slc22a19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03382:Slc22a19
|
APN |
19 |
7,659,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation