Incidental Mutation 'R0692:Svopl'
| ID |
63373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Svopl
|
| Ensembl Gene |
ENSMUSG00000029830 |
| Gene Name |
SV2 related protein homolog (rat)-like |
| Synonyms |
9430071P14Rik |
| MMRRC Submission |
038877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0692 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
37960674-38023931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37994131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 300
(L300Q)
|
| 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 damaging
Transcript: ENSMUST00000096040
AA Change: L300Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093743
Gene: ENSMUSG00000029830
AA Change: L300Q
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,205,383 (GRCm39) |
D44E |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,076,616 (GRCm39) |
V421A |
probably benign |
Het |
| Clk4 |
C |
T |
11: 51,172,155 (GRCm39) |
R273* |
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,230,357 (GRCm39) |
L1577* |
probably null |
Het |
| Col14a1 |
G |
C |
15: 55,205,134 (GRCm39) |
G88A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,882,674 (GRCm39) |
C40R |
probably benign |
Het |
| Kcng1 |
T |
A |
2: 168,104,683 (GRCm39) |
I388F |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,983,896 (GRCm39) |
E368G |
possibly damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,053 (GRCm39) |
D400G |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,003 (GRCm39) |
C744R |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,872,516 (GRCm39) |
M286V |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,168,698 (GRCm39) |
Y788F |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,673,362 (GRCm39) |
|
probably null |
Het |
| Rflnb |
T |
C |
11: 75,918,279 (GRCm39) |
D62G |
probably benign |
Het |
| Sema4f |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
6: 82,916,511 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,036,082 (GRCm39) |
Y651* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,443,888 (GRCm39) |
T113A |
probably benign |
Het |
| Trim41 |
C |
T |
11: 48,699,077 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
C |
A |
6: 57,903,110 (GRCm39) |
E223* |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGAAACAGGGCAGGTACA -3'
(R):5'- acgtTTTCAGATGCTGTGGATGGT -3'
Sequencing Primer
(F):5'- GGGCAATCTTACAAGCGATTTCC -3'
(R):5'- CTGTGGATGGTGTATAGTATAGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation