Incidental Mutation 'R8006:Vcp'
| ID |
616615 |
| 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 |
046046-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
42979964-43000507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42985993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 340
(H340Q)
|
| 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 benign
Transcript: ENSMUST00000030164
AA Change: H340Q
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: H340Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,944 (GRCm39) |
H351Q |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,229,444 (GRCm39) |
S126P |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,303,199 (GRCm39) |
D14G |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,772 (GRCm39) |
R287G |
|
Het |
| Ankrd13a |
A |
C |
5: 114,942,484 (GRCm39) |
*589S |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,611,889 (GRCm39) |
I151V |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,243,518 (GRCm39) |
D880E |
probably benign |
Het |
| Arl3 |
A |
C |
19: 46,546,813 (GRCm39) |
L4R |
probably damaging |
Het |
| Ate1 |
T |
A |
7: 130,069,118 (GRCm39) |
Q340L |
probably damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,706,306 (GRCm39) |
P930S |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,664,590 (GRCm39) |
Y490H |
probably damaging |
Het |
| Cox18 |
C |
T |
5: 90,371,672 (GRCm39) |
V43M |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,417,790 (GRCm39) |
K176R |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,183 (GRCm39) |
T1004A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,518,299 (GRCm39) |
I335T |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,669 (GRCm39) |
I248V |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,106 (GRCm39) |
T544A |
probably benign |
Het |
| Grm6 |
A |
T |
11: 50,755,484 (GRCm39) |
*872L |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,352,842 (GRCm39) |
Y2109* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,735 (GRCm39) |
V80E |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,556,322 (GRCm39) |
V721A |
possibly damaging |
Het |
| Jade1 |
A |
T |
3: 41,568,124 (GRCm39) |
I731L |
probably benign |
Het |
| Khnyn |
G |
A |
14: 56,125,047 (GRCm39) |
V434I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,425,488 (GRCm39) |
L714P |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,952,085 (GRCm39) |
E585K |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,004,673 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,444,393 (GRCm39) |
C490S |
probably damaging |
Het |
| Mmp27 |
C |
T |
9: 7,578,985 (GRCm39) |
R387C |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,010,577 (GRCm39) |
D219V |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,487,904 (GRCm39) |
L407Q |
probably damaging |
Het |
| Nppa |
T |
A |
4: 148,085,638 (GRCm39) |
W82R |
probably damaging |
Het |
| Or10g6 |
T |
G |
9: 39,933,770 (GRCm39) |
L27R |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,532 (GRCm39) |
C244S |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,318 (GRCm39) |
N285S |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,179 (GRCm39) |
I1123L |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,661,831 (GRCm39) |
I695T |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,239,158 (GRCm39) |
M347L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,104,082 (GRCm39) |
C3296* |
probably null |
Het |
| Semp2l1 |
T |
A |
1: 32,586,005 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,930,756 (GRCm39) |
L611Q |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,634,251 (GRCm39) |
Q396* |
probably null |
Het |
| Taf2 |
A |
G |
15: 54,912,097 (GRCm39) |
F537L |
probably damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,046,898 (GRCm39) |
E451K |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tmem267 |
T |
A |
13: 120,070,774 (GRCm39) |
V143E |
probably damaging |
Het |
| Tyw1 |
C |
T |
5: 130,296,913 (GRCm39) |
R177W |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,182 (GRCm39) |
D533G |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,650,174 (GRCm39) |
C331S |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,100 (GRCm39) |
C332* |
probably null |
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 |
|
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'- GTGAGATAAGCAAATCAAGCCC -3'
(R):5'- TGCCATTGCACCCAAAAGAG -3'
Sequencing Primer
(F):5'- TTATTCCCAAGCACTCAGGAGGTAG -3'
(R):5'- AGAGAGAAAGTACGAACTTACCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation