Incidental Mutation 'IGL01638:Slc22a7'
ID |
93155 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc22a7
|
Ensembl Gene |
ENSMUSG00000067144 |
Gene Name |
solute carrier family 22 (organic anion transporter), member 7 |
Synonyms |
OAT2, NLT |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01638
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46743109-46749383 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 46748920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047034]
[ENSMUST00000087012]
[ENSMUST00000166852]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047034
|
SMART Domains |
Protein: ENSMUSP00000044580 Gene: ENSMUSG00000015599
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
34 |
293 |
3.4e-21 |
PFAM |
Pfam:Pkinase
|
34 |
305 |
1.7e-33 |
PFAM |
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
low complexity region
|
371 |
395 |
N/A |
INTRINSIC |
low complexity region
|
570 |
593 |
N/A |
INTRINSIC |
low complexity region
|
611 |
624 |
N/A |
INTRINSIC |
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
low complexity region
|
697 |
709 |
N/A |
INTRINSIC |
coiled coil region
|
729 |
776 |
N/A |
INTRINSIC |
low complexity region
|
779 |
797 |
N/A |
INTRINSIC |
low complexity region
|
893 |
913 |
N/A |
INTRINSIC |
low complexity region
|
945 |
962 |
N/A |
INTRINSIC |
low complexity region
|
1090 |
1115 |
N/A |
INTRINSIC |
low complexity region
|
1236 |
1251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087012
|
SMART Domains |
Protein: ENSMUSP00000084234 Gene: ENSMUSG00000067144
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
82 |
479 |
1.2e-32 |
PFAM |
Pfam:Sugar_tr
|
86 |
524 |
2.5e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166852
|
SMART Domains |
Protein: ENSMUSP00000127966 Gene: ENSMUSG00000091742
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L5
|
10 |
59 |
4.1e-18 |
PFAM |
Pfam:Ribosomal_L5_C
|
63 |
161 |
8.7e-25 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
Other mutations in Slc22a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0755:Slc22a7
|
UTSW |
17 |
46,749,113 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0898:Slc22a7
|
UTSW |
17 |
46,744,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Slc22a7
|
UTSW |
17 |
46,748,957 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1794:Slc22a7
|
UTSW |
17 |
46,744,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R1900:Slc22a7
|
UTSW |
17 |
46,749,157 (GRCm39) |
missense |
probably benign |
0.00 |
R1973:Slc22a7
|
UTSW |
17 |
46,748,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Slc22a7
|
UTSW |
17 |
46,744,898 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4467:Slc22a7
|
UTSW |
17 |
46,743,436 (GRCm39) |
missense |
probably benign |
|
R4739:Slc22a7
|
UTSW |
17 |
46,745,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Slc22a7
|
UTSW |
17 |
46,747,859 (GRCm39) |
missense |
probably benign |
0.00 |
R6982:Slc22a7
|
UTSW |
17 |
46,745,563 (GRCm39) |
missense |
probably benign |
0.02 |
R7122:Slc22a7
|
UTSW |
17 |
46,749,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Slc22a7
|
UTSW |
17 |
46,745,553 (GRCm39) |
missense |
probably benign |
0.00 |
R7634:Slc22a7
|
UTSW |
17 |
46,749,156 (GRCm39) |
missense |
probably benign |
0.02 |
R8112:Slc22a7
|
UTSW |
17 |
46,747,756 (GRCm39) |
missense |
probably benign |
0.00 |
R8703:Slc22a7
|
UTSW |
17 |
46,744,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R9117:Slc22a7
|
UTSW |
17 |
46,748,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R9541:Slc22a7
|
UTSW |
17 |
46,749,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |