Incidental Mutation 'IGL03249:Svopl'
| ID |
414515 |
| 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 # |
IGL03249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
37960674-38023931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37993988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 348
(T348A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096040]
|
| AlphaFold |
Q6PDF3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000040486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096040
AA Change: T348A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093743
Gene: ENSMUSG00000029830
AA Change: T348A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200796
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
A |
G |
7: 43,900,149 (GRCm39) |
Y18C |
probably damaging |
Het |
| Abcc4 |
A |
G |
14: 118,865,118 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,381,787 (GRCm39) |
K202E |
probably benign |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,303 (GRCm39) |
H437L |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,299,846 (GRCm39) |
R1786S |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,061,977 (GRCm39) |
E40K |
probably benign |
Het |
| Cdc23 |
A |
G |
18: 34,777,069 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,683,382 (GRCm39) |
D461G |
probably benign |
Het |
| Galntl6 |
G |
T |
8: 58,230,210 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,106,814 (GRCm39) |
Y583* |
probably null |
Het |
| Or11g7 |
T |
C |
14: 50,690,668 (GRCm39) |
V53A |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,067,427 (GRCm39) |
R281L |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,434,812 (GRCm39) |
D292G |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,001 (GRCm39) |
M4594K |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,168,133 (GRCm39) |
Y126C |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,303,182 (GRCm39) |
E150G |
probably benign |
Het |
| Ttc8 |
T |
G |
12: 98,910,080 (GRCm39) |
|
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,683,701 (GRCm39) |
N105K |
probably damaging |
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 |
|
|
IGL01531:Svopl
|
APN |
6 |
38,003,876 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation