Incidental Mutation 'IGL01531:Svopl'
ID |
89777 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Svopl
|
Ensembl Gene |
ENSMUSG00000029830 |
Gene Name |
SV2 related protein homolog (rat)-like |
Synonyms |
9430071P14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01531
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
37960674-38023931 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 38003876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096040]
|
AlphaFold |
Q6PDF3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000040486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096040
|
SMART Domains |
Protein: ENSMUSP00000093743 Gene: ENSMUSG00000029830
Domain | Start | End | E-Value | Type |
Pfam:Sugar_tr
|
17 |
297 |
5.5e-20 |
PFAM |
Pfam:MFS_1
|
50 |
308 |
2.1e-20 |
PFAM |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
transmembrane domain
|
384 |
406 |
N/A |
INTRINSIC |
transmembrane domain
|
459 |
481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172585
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173428
|
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 thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,603,494 (GRCm39) |
|
probably null |
Het |
Abtb3 |
T |
C |
10: 85,465,069 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,119,414 (GRCm39) |
V1019A |
possibly damaging |
Het |
Blm |
A |
G |
7: 80,123,819 (GRCm39) |
Y1004H |
probably damaging |
Het |
Cachd1 |
A |
C |
4: 100,810,231 (GRCm39) |
I278L |
probably benign |
Het |
Ddx18 |
T |
A |
1: 121,492,315 (GRCm39) |
T131S |
probably benign |
Het |
Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,374 (GRCm39) |
T120A |
probably damaging |
Het |
Dnaja3 |
T |
G |
16: 4,512,268 (GRCm39) |
V224G |
probably damaging |
Het |
Dntt |
A |
T |
19: 41,041,677 (GRCm39) |
R454* |
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,071,111 (GRCm39) |
T3083S |
probably benign |
Het |
Eea1 |
C |
A |
10: 95,867,539 (GRCm39) |
T1045K |
probably damaging |
Het |
Gpnmb |
T |
A |
6: 49,024,392 (GRCm39) |
|
probably benign |
Het |
Hirip3 |
A |
G |
7: 126,462,548 (GRCm39) |
E108G |
possibly damaging |
Het |
Il33 |
C |
A |
19: 29,929,381 (GRCm39) |
Q35K |
possibly damaging |
Het |
Il6ra |
G |
A |
3: 89,793,350 (GRCm39) |
L267F |
probably damaging |
Het |
Impact |
C |
T |
18: 13,109,076 (GRCm39) |
S69F |
probably benign |
Het |
Klk1b9 |
G |
A |
7: 43,441,675 (GRCm39) |
G39D |
probably damaging |
Het |
Ldah |
A |
G |
12: 8,277,337 (GRCm39) |
D91G |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,341,898 (GRCm39) |
L1837P |
probably damaging |
Het |
Mov10l1 |
T |
A |
15: 88,938,555 (GRCm39) |
H1204Q |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,063,655 (GRCm39) |
E21G |
probably damaging |
Het |
Or12k8 |
T |
C |
2: 36,975,407 (GRCm39) |
M118V |
possibly damaging |
Het |
Or52ae9 |
T |
A |
7: 103,390,321 (GRCm39) |
N42I |
probably damaging |
Het |
Osbpl1a |
T |
G |
18: 13,066,638 (GRCm39) |
K40N |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,419,168 (GRCm39) |
V648A |
probably benign |
Het |
Scn9a |
T |
C |
2: 66,367,722 (GRCm39) |
K654E |
probably benign |
Het |
Sema3d |
A |
G |
5: 12,591,047 (GRCm39) |
I309V |
probably benign |
Het |
Slc6a2 |
T |
C |
8: 93,722,310 (GRCm39) |
L519P |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,504,085 (GRCm39) |
I211V |
possibly damaging |
Het |
Stau2 |
T |
C |
1: 16,415,922 (GRCm39) |
*480W |
probably null |
Het |
Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
Zan |
G |
A |
5: 137,422,874 (GRCm39) |
T2713I |
unknown |
Het |
|
Other mutations in Svopl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Svopl
|
APN |
6 |
38,007,952 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02161:Svopl
|
APN |
6 |
38,013,750 (GRCm39) |
splice site |
probably benign |
|
IGL02554:Svopl
|
APN |
6 |
37,993,978 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03249:Svopl
|
APN |
6 |
37,993,988 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4434001:Svopl
|
UTSW |
6 |
37,991,801 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0285:Svopl
|
UTSW |
6 |
37,961,457 (GRCm39) |
missense |
probably benign |
0.02 |
R0423:Svopl
|
UTSW |
6 |
38,013,642 (GRCm39) |
splice site |
probably benign |
|
R0692:Svopl
|
UTSW |
6 |
37,994,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R0960:Svopl
|
UTSW |
6 |
37,993,992 (GRCm39) |
nonsense |
probably null |
|
R1163:Svopl
|
UTSW |
6 |
38,006,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1526:Svopl
|
UTSW |
6 |
38,006,570 (GRCm39) |
missense |
probably benign |
0.03 |
R2295:Svopl
|
UTSW |
6 |
37,996,668 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2302:Svopl
|
UTSW |
6 |
38,018,101 (GRCm39) |
splice site |
probably benign |
|
R5933:Svopl
|
UTSW |
6 |
37,993,949 (GRCm39) |
splice site |
probably benign |
|
R6367:Svopl
|
UTSW |
6 |
37,996,614 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6595:Svopl
|
UTSW |
6 |
38,018,002 (GRCm39) |
splice site |
probably null |
|
R6903:Svopl
|
UTSW |
6 |
37,998,543 (GRCm39) |
missense |
probably benign |
0.00 |
R7980:Svopl
|
UTSW |
6 |
37,991,744 (GRCm39) |
missense |
probably damaging |
0.98 |
R8167:Svopl
|
UTSW |
6 |
37,993,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R8218:Svopl
|
UTSW |
6 |
37,991,741 (GRCm39) |
missense |
probably benign |
|
R9046:Svopl
|
UTSW |
6 |
37,998,531 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Svopl
|
UTSW |
6 |
38,006,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |