Incidental Mutation 'IGL01529:Slc22a19'
| ID |
89685 |
| 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 # |
IGL01529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7650440-7688675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7660300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 370
(N370S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025666]
|
| AlphaFold |
Q8VCA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025666
AA Change: N370S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: N370S
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,622 (GRCm39) |
I144N |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 59,096,535 (GRCm39) |
H588Q |
probably damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,349 (GRCm39) |
K46E |
probably damaging |
Het |
| Arhgap10 |
A |
C |
8: 78,072,920 (GRCm39) |
L513V |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,901,351 (GRCm39) |
R817L |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,650,712 (GRCm39) |
N900K |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,826 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,042 (GRCm39) |
N773D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,981 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dolk |
T |
C |
2: 30,175,749 (GRCm39) |
T99A |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,813,014 (GRCm39) |
R165W |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,172,982 (GRCm39) |
D2577V |
probably damaging |
Het |
| Hsph1 |
T |
C |
5: 149,559,499 (GRCm39) |
I15V |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,747,693 (GRCm39) |
T276A |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,897 (GRCm39) |
Y954C |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,602,735 (GRCm39) |
W118R |
probably damaging |
Het |
| Kcnh6 |
G |
T |
11: 105,911,522 (GRCm39) |
R636L |
probably benign |
Het |
| Klk1b16 |
G |
T |
7: 43,790,163 (GRCm39) |
K144N |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,516 (GRCm39) |
L2435I |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,797,867 (GRCm39) |
D502G |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,178,359 (GRCm39) |
N1623K |
probably benign |
Het |
| Mcm10 |
C |
A |
2: 5,013,439 (GRCm39) |
E64D |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,880,400 (GRCm39) |
N1164S |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,556,529 (GRCm39) |
N1025D |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,450 (GRCm39) |
D14E |
probably benign |
Het |
| Or8g27 |
C |
T |
9: 39,129,427 (GRCm39) |
T258I |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,098,068 (GRCm39) |
N785D |
probably benign |
Het |
| Psmd8 |
A |
T |
7: 28,878,576 (GRCm39) |
I81N |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,225,685 (GRCm39) |
H194Y |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,774,652 (GRCm39) |
G2330R |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,084 (GRCm39) |
T80A |
possibly damaging |
Het |
| Sergef |
A |
T |
7: 46,092,942 (GRCm39) |
W356R |
probably damaging |
Het |
| Syde1 |
A |
G |
10: 78,426,015 (GRCm39) |
S51P |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,215,233 (GRCm39) |
D1019V |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,493 (GRCm39) |
M265T |
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 |
|
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 |
2013-12-03 |
Incidental Mutation