Incidental Mutation 'IGL02251:Vcp'
ID |
286405 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vcp
|
Ensembl Gene |
ENSMUSG00000028452 |
Gene Name |
valosin containing protein |
Synonyms |
CDC48, p97, AAA ATPase p97, p97/VCP |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02251
|
Quality Score |
|
Status
|
|
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2015-04-16 |