Incidental Mutation 'IGL01349:Slc22a19'
ID |
75278 |
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 # |
IGL01349
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7650440-7688675 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 7651792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 472
(V472F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025666]
|
AlphaFold |
Q8VCA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025666
AA Change: V472F
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025666 Gene: ENSMUSG00000024757 AA Change: V472F
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,242,076 (GRCm39) |
S1313L |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,848,455 (GRCm39) |
H667R |
probably benign |
Het |
Arap1 |
T |
C |
7: 101,036,359 (GRCm39) |
V382A |
possibly damaging |
Het |
Arih2 |
T |
C |
9: 108,482,609 (GRCm39) |
Y444C |
probably damaging |
Het |
Asxl3 |
T |
G |
18: 22,657,294 (GRCm39) |
V1768G |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,798,979 (GRCm39) |
M869K |
probably benign |
Het |
C4bp |
A |
G |
1: 130,570,665 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,881,126 (GRCm39) |
Y1167F |
probably benign |
Het |
Cgn |
T |
A |
3: 94,674,486 (GRCm39) |
K884* |
probably null |
Het |
Chd1l |
T |
C |
3: 97,498,550 (GRCm39) |
Y283C |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,984,603 (GRCm39) |
V157A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,050,978 (GRCm39) |
F918L |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,432 (GRCm39) |
N1890S |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,059 (GRCm39) |
|
probably benign |
Het |
Eif4b |
C |
T |
15: 101,999,858 (GRCm39) |
T412I |
probably benign |
Het |
Eloa |
A |
C |
4: 135,741,758 (GRCm39) |
Y29D |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,385,752 (GRCm39) |
F279S |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,207 (GRCm39) |
D316G |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,058,531 (GRCm39) |
S363G |
probably benign |
Het |
Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
Il17rd |
T |
A |
14: 26,817,901 (GRCm39) |
S197T |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,450,083 (GRCm39) |
E147G |
possibly damaging |
Het |
Itk |
T |
A |
11: 46,232,027 (GRCm39) |
T303S |
possibly damaging |
Het |
Kcnh6 |
A |
G |
11: 105,914,743 (GRCm39) |
D716G |
possibly damaging |
Het |
Lca5 |
A |
G |
9: 83,308,670 (GRCm39) |
S59P |
probably damaging |
Het |
Lrrc40 |
T |
C |
3: 157,764,302 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,699,335 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,359,983 (GRCm39) |
T4427A |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,734,472 (GRCm39) |
D513G |
possibly damaging |
Het |
Or2y1b |
T |
A |
11: 49,209,127 (GRCm39) |
Y251* |
probably null |
Het |
Pde7a |
C |
T |
3: 19,283,843 (GRCm39) |
|
probably benign |
Het |
Pira2 |
T |
C |
7: 3,847,138 (GRCm39) |
T135A |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,506,558 (GRCm39) |
Y397C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,927,122 (GRCm39) |
M2187K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,602,125 (GRCm39) |
I4586F |
possibly damaging |
Het |
Serpinb3c |
A |
T |
1: 107,200,513 (GRCm39) |
M210K |
probably damaging |
Het |
Slc4a11 |
A |
G |
2: 130,528,863 (GRCm39) |
I462T |
probably benign |
Het |
Spag11b |
A |
T |
8: 19,191,492 (GRCm39) |
H55L |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,652,309 (GRCm39) |
N125K |
possibly damaging |
Het |
Ubr4 |
G |
T |
4: 139,208,039 (GRCm39) |
R4940L |
unknown |
Het |
Vcan |
T |
A |
13: 89,852,062 (GRCm39) |
H966L |
probably damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,740,504 (GRCm39) |
I45K |
probably damaging |
Het |
Vnn3 |
A |
T |
10: 23,727,814 (GRCm39) |
I75F |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,794,091 (GRCm39) |
M2256L |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,259,353 (GRCm39) |
L1642M |
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 |
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 |
2013-10-07 |