Incidental Mutation 'R2973:Vcp'
| ID |
255270 |
| 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 |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42979964-43000507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42996315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 16
(I16F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030164]
|
| 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: I16F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: I16F
| 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 |
noncoding transcript
Transcript: ENSMUST00000139843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148182
|
| Meta Mutation Damage Score |
0.2922 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
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 |
|
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 |
|
R8234:Vcp
|
UTSW |
4 |
42,985,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTCACTGACCGTTAGATAGGC -3'
(R):5'- ACAGATTGGAATAGCAGCACTC -3'
Sequencing Primer
(F):5'- CTGACCGTTAGATAGGCTAGAATTCC -3'
(R):5'- GCAGCACTCAAAATACTAAGATGTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation