Incidental Mutation 'IGL01409:Slc22a19'
ID |
79905 |
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 # |
IGL01409
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7650440-7688675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7688495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 22
(I22V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025666]
|
AlphaFold |
Q8VCA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025666
AA Change: I22V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000025666 Gene: ENSMUSG00000024757 AA Change: I22V
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141771
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
C |
T |
10: 85,494,029 (GRCm39) |
A1049V |
possibly damaging |
Het |
Arhgap26 |
C |
T |
18: 39,243,504 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
C |
2: 153,234,860 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
T |
9: 53,410,471 (GRCm39) |
V1037E |
probably benign |
Het |
Bmp6 |
A |
G |
13: 38,669,865 (GRCm39) |
N383S |
probably damaging |
Het |
Btf3l4 |
A |
C |
4: 108,676,394 (GRCm39) |
S103R |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,587,440 (GRCm39) |
D321G |
probably damaging |
Het |
Col24a1 |
G |
A |
3: 145,244,319 (GRCm39) |
S1531N |
probably benign |
Het |
Cpb1 |
T |
A |
3: 20,303,969 (GRCm39) |
Y365F |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,762,599 (GRCm39) |
Y238H |
probably damaging |
Het |
Epha6 |
G |
A |
16: 59,476,100 (GRCm39) |
R1089* |
probably null |
Het |
Fga |
T |
C |
3: 82,940,059 (GRCm39) |
F571S |
probably damaging |
Het |
Focad |
A |
G |
4: 88,260,542 (GRCm39) |
T933A |
unknown |
Het |
Gm57858 |
T |
A |
3: 36,080,077 (GRCm39) |
M227L |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,615,004 (GRCm39) |
|
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,424,077 (GRCm39) |
N725S |
unknown |
Het |
Ik |
A |
T |
18: 36,889,974 (GRCm39) |
K534N |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,196,525 (GRCm39) |
T631A |
probably benign |
Het |
Kcnip1 |
G |
T |
11: 33,580,593 (GRCm39) |
D214E |
probably benign |
Het |
Kcnk10 |
A |
T |
12: 98,456,322 (GRCm39) |
Y170N |
probably damaging |
Het |
Lalba |
A |
G |
15: 98,379,948 (GRCm39) |
|
probably null |
Het |
Ly75 |
A |
T |
2: 60,152,036 (GRCm39) |
|
probably null |
Het |
Myh10 |
T |
C |
11: 68,698,045 (GRCm39) |
L1629P |
probably damaging |
Het |
Myo15b |
C |
A |
11: 115,760,330 (GRCm39) |
C1127* |
probably null |
Het |
Neurl4 |
T |
G |
11: 69,797,925 (GRCm39) |
N728K |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,477,128 (GRCm39) |
F801Y |
probably damaging |
Het |
Nup214 |
G |
T |
2: 31,916,943 (GRCm39) |
|
probably null |
Het |
Obscn |
G |
A |
11: 58,921,884 (GRCm39) |
R6624C |
probably damaging |
Het |
Or2g1 |
T |
C |
17: 38,106,413 (GRCm39) |
F26S |
probably damaging |
Het |
Pdk1 |
A |
G |
2: 71,726,123 (GRCm39) |
T344A |
probably benign |
Het |
Pitx2 |
C |
A |
3: 129,008,413 (GRCm39) |
S63Y |
probably damaging |
Het |
Ppara |
A |
C |
15: 85,661,844 (GRCm39) |
L28F |
probably damaging |
Het |
Rad54l |
G |
A |
4: 115,963,074 (GRCm39) |
T308I |
probably damaging |
Het |
Sbds |
T |
C |
5: 130,282,907 (GRCm39) |
E7G |
probably damaging |
Het |
Slfn10-ps |
T |
C |
11: 82,926,322 (GRCm39) |
|
noncoding transcript |
Het |
Spag4 |
T |
C |
2: 155,911,252 (GRCm39) |
S396P |
possibly damaging |
Het |
Spef2 |
C |
A |
15: 9,716,499 (GRCm39) |
L362F |
probably damaging |
Het |
Srebf2 |
A |
G |
15: 82,055,419 (GRCm39) |
T208A |
probably damaging |
Het |
Ssc5d |
A |
G |
7: 4,945,808 (GRCm39) |
T947A |
probably benign |
Het |
Tdp1 |
T |
C |
12: 99,875,940 (GRCm39) |
I297T |
possibly damaging |
Het |
Tent5c |
A |
T |
3: 100,380,485 (GRCm39) |
D90E |
probably damaging |
Het |
Tsen2 |
T |
C |
6: 115,536,555 (GRCm39) |
Y104H |
possibly damaging |
Het |
Was |
G |
A |
X: 7,954,055 (GRCm39) |
R229C |
probably damaging |
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 |
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 |
2013-11-05 |