|Institutional Source||Beutler Lab|
|Gene Name||valosin containing protein|
|Synonyms||AAA ATPase p97, p97/VCP, p97, CDC48|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7470 (G1)|
|Chromosomal Location||42979963-43000507 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 42982891 bp|
|Amino Acid Change||Serine to Proline at position 652 (S652P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030164 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030164] [ENSMUST00000139127]|
|Predicted Effect||probably damaging
AA Change: S652P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S652P
|Predicted Effect||probably benign
|Coding Region Coverage||
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||
|Other mutations in Vcp||
(F):5'- GTCATCTTAGCCAGGAACTCC -3'
(R):5'- TGCTGACCGAGTCATCAATC -3'
(F):5'- GCAAGAGAGTACTTTAGCATTGTGCC -3'
(R):5'- TGACCGAGTCATCAATCAGATCCTG -3'