Incidental Mutation 'R1233:Vopp1'
| ID |
152350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vopp1
|
| Ensembl Gene |
ENSMUSG00000037788 |
| Gene Name |
vesicular, overexpressed in cancer, prosurvival protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1233 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
57729249-57802110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57766980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 32
(L32R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114297]
[ENSMUST00000127485]
[ENSMUST00000145608]
[ENSMUST00000203212]
[ENSMUST00000204878]
|
| AlphaFold |
Q8R1C3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114297
AA Change: L32R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109936
Gene: ENSMUSG00000037788
AA Change: L32R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127485
AA Change: L32R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115377
Gene: ENSMUSG00000037788
AA Change: L32R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
37 |
106 |
7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143953
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145608
AA Change: L32R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145084
Gene: ENSMUSG00000037788
AA Change: L32R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204878
|
| SMART Domains |
Protein: ENSMUSP00000144953
Gene: ENSMUSG00000037788
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,288,419 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
A |
13: 63,347,334 (GRCm39) |
M631K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,254,315 (GRCm39) |
D773G |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,416 (GRCm39) |
I753T |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,351,301 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
C |
T |
8: 105,345,114 (GRCm39) |
A392T |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,536,927 (GRCm39) |
T92A |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,639,419 (GRCm39) |
C129S |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,834,041 (GRCm39) |
I4184L |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,455,199 (GRCm39) |
Y2126H |
probably damaging |
Het |
| Fsbp |
T |
C |
4: 11,580,053 (GRCm39) |
M107T |
possibly damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,357 (GRCm39) |
Y234C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,777 (GRCm39) |
S1043G |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,123,840 (GRCm39) |
K137N |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,239,241 (GRCm39) |
F1332S |
probably damaging |
Het |
| Nme8 |
T |
A |
13: 19,844,682 (GRCm39) |
M375L |
possibly damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,176 (GRCm39) |
H244L |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,993,037 (GRCm39) |
L298P |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,482,412 (GRCm39) |
N650S |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,682,222 (GRCm39) |
V306A |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,768 (GRCm39) |
T566A |
possibly damaging |
Het |
| Rhot2 |
T |
A |
17: 26,063,071 (GRCm39) |
D57V |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Slc5a8 |
C |
A |
10: 88,754,304 (GRCm39) |
P435H |
probably damaging |
Het |
| Stpg1 |
G |
A |
4: 135,252,740 (GRCm39) |
A164T |
probably benign |
Het |
| Tll2 |
G |
T |
19: 41,084,423 (GRCm39) |
A668D |
possibly damaging |
Het |
| Txnl1 |
T |
A |
18: 63,808,539 (GRCm39) |
M180L |
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,505,323 (GRCm39) |
T226I |
possibly damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,829 (GRCm39) |
Q557K |
probably benign |
Het |
|
| Other mutations in Vopp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Vopp1
|
APN |
6 |
57,731,465 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03155:Vopp1
|
APN |
6 |
57,739,492 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1708:Vopp1
|
UTSW |
6 |
57,739,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Vopp1
|
UTSW |
6 |
57,731,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4082:Vopp1
|
UTSW |
6 |
57,766,964 (GRCm39) |
nonsense |
probably null |
|
|
R4392:Vopp1
|
UTSW |
6 |
57,739,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Vopp1
|
UTSW |
6 |
57,731,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Vopp1
|
UTSW |
6 |
57,731,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Vopp1
|
UTSW |
6 |
57,739,355 (GRCm39) |
intron |
probably benign |
|
|
R6797:Vopp1
|
UTSW |
6 |
57,739,492 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8420:Vopp1
|
UTSW |
6 |
57,739,379 (GRCm39) |
makesense |
probably null |
|
|
R8927:Vopp1
|
UTSW |
6 |
57,731,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8928:Vopp1
|
UTSW |
6 |
57,731,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9273:Vopp1
|
UTSW |
6 |
57,731,575 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9619:Vopp1
|
UTSW |
6 |
57,731,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTTCACAAACTTAACTGCCGAAA -3'
(R):5'- CAGTATGTGGGAGATGCCTGTCAAAA -3'
Sequencing Primer
(F):5'- actgccgaaacctccac -3'
(R):5'- tgattcttagcaactccccc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation