Incidental Mutation 'R0766:Vcp'
| ID |
69492 |
| 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 |
038946-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0766 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42979964-43000507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42988728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 249
(T249A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000030164
AA Change: T249A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: T249A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154541
|
| Meta Mutation Damage Score |
0.7721 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,653,849 (GRCm39) |
|
probably benign |
Het |
| Card14 |
T |
C |
11: 119,215,002 (GRCm39) |
S241P |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,448,633 (GRCm39) |
K4232T |
probably null |
Het |
| Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
| Esd |
T |
C |
14: 74,979,561 (GRCm39) |
S122P |
probably damaging |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,412,122 (GRCm39) |
P4781S |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
| Iqch |
G |
A |
9: 63,389,965 (GRCm39) |
S738L |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,387,861 (GRCm39) |
E1533G |
probably damaging |
Het |
| Klrg1 |
T |
C |
6: 122,256,622 (GRCm39) |
M55V |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Otos |
A |
C |
1: 92,573,073 (GRCm39) |
L14R |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
| Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,526,111 (GRCm39) |
M254K |
possibly damaging |
Het |
| Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex22 |
A |
G |
12: 113,052,143 (GRCm39) |
N67S |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,176,537 (GRCm39) |
S270A |
probably benign |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,862,569 (GRCm39) |
E601G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
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 |
|
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 |
|
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'- TATGCTGAAGGGTATAGGTGCAGGTGAA -3'
(R):5'- TCCCATTGTAAATCATTCTGGCCTCAAG -3'
Sequencing Primer
(F):5'- GAATGTTTCCATGAGTTGCCTAAC -3'
(R):5'- agagaccagaagaagacatcag -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation