Incidental Mutation 'R8234:Vcp'
| ID |
637255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vcp
|
| Ensembl Gene |
ENSMUSG00000028452 |
| Gene Name |
valosin containing protein |
| Synonyms |
CDC48, p97, AAA ATPase p97, p97/VCP |
| MMRRC Submission |
067666-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42979964-43000507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42985242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 369
(I369N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030164]
[ENSMUST00000139127]
|
| AlphaFold |
Q01853 |
| PDB Structure |
STRUCTURE OF THE N-TERMINAL DOMAIN AND THE D1 AAA DOMAIN OF MEMBRANE FUSION ATPASE P97 [X-RAY DIFFRACTION]
The crystal structure of murine p97/VCP at 3.6A [X-RAY DIFFRACTION]
Crystal structure of AAA ATPase p97/VCP ND1 in complex with p47 C [X-RAY DIFFRACTION]
Strctural Model of the p97 N domain- npl4 UBD complex [SOLUTION NMR]
Structure of D2 subdomain of P97/VCP in complex with ADP [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP/ADP.alfx [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP/AMP-PNP [X-RAY DIFFRACTION]
Structure of P97/vcp in complex with ADP [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030164
AA Change: I369N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: I369N
| Domain | Start | End | E-Value | Type |
|---|
|
CDC48_N
|
25 |
108 |
6.85e-27 |
SMART |
|
CDC48_2
|
125 |
191 |
3.77e-15 |
SMART |
|
AAA
|
237 |
373 |
7.87e-24 |
SMART |
|
AAA
|
510 |
649 |
2e-25 |
SMART |
|
Pfam:Vps4_C
|
710 |
762 |
3.5e-7 |
PFAM |
|
low complexity region
|
775 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139127
|
| SMART Domains |
Protein: ENSMUSP00000116415
Gene: ENSMUSG00000028451
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9680 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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 a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Mice homozygous for a knock-in allele exhibit progressive muscle weakness, myopathy, decreased bone density, increased osteoclast genesis, and seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
T |
A |
14: 54,499,133 (GRCm39) |
M38K |
probably benign |
Het |
| Ackr1 |
T |
A |
1: 173,159,582 (GRCm39) |
R312S |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,094,845 (GRCm39) |
V2213A |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,390,835 (GRCm39) |
R439W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,864,920 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,601,209 (GRCm39) |
N14S |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,242,974 (GRCm39) |
S542G |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,925,935 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dmpk |
A |
T |
7: 18,822,048 (GRCm39) |
K335N |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,221 (GRCm39) |
D395G |
probably benign |
Het |
| Dock4 |
C |
T |
12: 40,884,837 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,508 (GRCm39) |
I71L |
noncoding transcript |
Het |
| Fmo4 |
T |
C |
1: 162,632,757 (GRCm39) |
D198G |
probably damaging |
Het |
| Foxc2 |
G |
A |
8: 121,844,777 (GRCm39) |
R475Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,898,533 (GRCm39) |
G37V |
unknown |
Het |
| Gpat3 |
T |
C |
5: 101,005,076 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,751,433 (GRCm39) |
D353G |
unknown |
Het |
| Hectd4 |
T |
A |
5: 121,477,607 (GRCm39) |
N2843K |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,469,761 (GRCm39) |
V4973M |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,263 (GRCm39) |
S281N |
probably benign |
Het |
| Kcnh4 |
A |
T |
11: 100,643,093 (GRCm39) |
N391K |
possibly damaging |
Het |
| Kitl |
A |
G |
10: 99,887,708 (GRCm39) |
T6A |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,995,027 (GRCm39) |
Y182H |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,202,668 (GRCm39) |
I1262L |
|
Het |
| Mtf1 |
A |
G |
4: 124,738,039 (GRCm39) |
E644G |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,706 (GRCm39) |
Y159C |
probably damaging |
Het |
| Nags |
C |
T |
11: 102,039,824 (GRCm39) |
S504F |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,456,523 (GRCm39) |
F475L |
probably damaging |
Het |
| Nipal2 |
G |
T |
15: 34,600,178 (GRCm39) |
T213N |
possibly damaging |
Het |
| Or52m1 |
T |
A |
7: 102,289,678 (GRCm39) |
L75Q |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,313 (GRCm39) |
S188P |
probably damaging |
Het |
| Pkm |
T |
C |
9: 59,577,882 (GRCm39) |
V233A |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,748,540 (GRCm39) |
I671N |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,855,118 (GRCm39) |
I121V |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,681,235 (GRCm39) |
S1180P |
possibly damaging |
Het |
| Samhd1 |
A |
G |
2: 156,958,270 (GRCm39) |
|
probably null |
Het |
| Serpinb9f |
A |
T |
13: 33,509,898 (GRCm39) |
Y30F |
probably benign |
Het |
| Slc5a10 |
T |
C |
11: 61,564,107 (GRCm39) |
I543V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,770,129 (GRCm39) |
I469V |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,032,459 (GRCm39) |
E431G |
probably benign |
Het |
| Tecr |
C |
A |
8: 84,299,880 (GRCm39) |
R133L |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,002 (GRCm39) |
N106S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,285 (GRCm39) |
S49G |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,692,640 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,553,324 (GRCm39) |
D31055G |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,691 (GRCm39) |
N76K |
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,074 (GRCm39) |
T713A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,601,235 (GRCm39) |
K844N |
probably benign |
Het |
|
| Other mutations in Vcp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01460:Vcp
|
APN |
4 |
42,996,040 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02251:Vcp
|
APN |
4 |
42,988,728 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
H8562:Vcp
|
UTSW |
4 |
42,982,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Vcp
|
UTSW |
4 |
42,983,011 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0639:Vcp
|
UTSW |
4 |
42,982,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0711:Vcp
|
UTSW |
4 |
42,986,201 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0766:Vcp
|
UTSW |
4 |
42,988,728 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1312:Vcp
|
UTSW |
4 |
42,988,728 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1702:Vcp
|
UTSW |
4 |
42,990,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Vcp
|
UTSW |
4 |
42,995,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2192:Vcp
|
UTSW |
4 |
42,982,547 (GRCm39) |
missense |
probably benign |
|
|
R2262:Vcp
|
UTSW |
4 |
42,980,828 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2265:Vcp
|
UTSW |
4 |
42,980,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2268:Vcp
|
UTSW |
4 |
42,980,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2269:Vcp
|
UTSW |
4 |
42,980,833 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2443:Vcp
|
UTSW |
4 |
42,983,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Vcp
|
UTSW |
4 |
42,980,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2973:Vcp
|
UTSW |
4 |
42,996,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:Vcp
|
UTSW |
4 |
42,983,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Vcp
|
UTSW |
4 |
42,993,826 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4546:Vcp
|
UTSW |
4 |
42,988,813 (GRCm39) |
intron |
probably benign |
|
|
R4578:Vcp
|
UTSW |
4 |
42,984,565 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4817:Vcp
|
UTSW |
4 |
42,983,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Vcp
|
UTSW |
4 |
42,993,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5014:Vcp
|
UTSW |
4 |
42,980,828 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6128:Vcp
|
UTSW |
4 |
42,980,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6594:Vcp
|
UTSW |
4 |
42,993,826 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7105:Vcp
|
UTSW |
4 |
42,985,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Vcp
|
UTSW |
4 |
42,982,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8006:Vcp
|
UTSW |
4 |
42,985,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8313:Vcp
|
UTSW |
4 |
42,988,728 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8751:Vcp
|
UTSW |
4 |
42,984,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Vcp
|
UTSW |
4 |
42,980,828 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9506:Vcp
|
UTSW |
4 |
42,983,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGCCCTGAAATCAAAGC -3'
(R):5'- CTGCCATGATAGGACCTAAGG -3'
Sequencing Primer
(F):5'- AGCAGGCCTTAAACTCAGG -3'
(R):5'- ATGACCCCCTTTGAAATGGTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation