Incidental Mutation 'R2302:Svopl'
| ID |
244456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Svopl
|
| Ensembl Gene |
ENSMUSG00000029830 |
| Gene Name |
SV2 related protein homolog (rat)-like |
| Synonyms |
9430071P14Rik |
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
37960674-38023931 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 38018101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
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 |
|
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 |
|
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'- ACCCACTGCAAAGGCTGATG -3'
(R):5'- AATGCCAGCTTTCAAACTAGTG -3'
Sequencing Primer
(F):5'- ATTCCTACTCCCGGGAATGG -3'
(R):5'- GTACAGAGGTACCTGTCTGTAATCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation