Mutagenetix > Incidental Mutation

Incidental Mutation 'R6128:Vcp'

487496

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

044275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42979964-43000507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42980941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 723 (E723G)

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: E723G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
AA Change: E723G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154541

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
A430033K04Rik	A	G	5: 138,646,038 (GRCm39)	H641R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Asah1	C	T	8: 41,807,092 (GRCm39)	V111M	probably damaging	Het
Ascc3	T	C	10: 50,526,734 (GRCm39)	L611P	probably damaging	Het
Atl2	C	A	17: 80,172,470 (GRCm39)		probably null	Het
Bhlhe22	A	T	3: 18,109,987 (GRCm39)	S346C	probably damaging	Het
Bicc1	T	C	10: 70,776,313 (GRCm39)		probably null	Het
Bptf	G	T	11: 106,965,516 (GRCm39)	A1163D	possibly damaging	Het
Bub1b	T	A	2: 118,448,293 (GRCm39)	C382S	probably benign	Het
Carmil1	A	T	13: 24,197,177 (GRCm39)	Y158*	probably null	Het
Ccdc175	A	T	12: 72,175,933 (GRCm39)	I473K	probably benign	Het
Ccdc18	A	G	5: 108,311,625 (GRCm39)	I444V	possibly damaging	Het
Cep131	T	A	11: 119,956,801 (GRCm39)	I880F	probably damaging	Het
Ces2e	T	A	8: 105,655,428 (GRCm39)	I117N	probably benign	Het
Clk2	C	T	3: 89,081,531 (GRCm39)	T289M	probably damaging	Het
Crocc2	A	T	1: 93,122,123 (GRCm39)	D672V	probably benign	Het
Cul7	T	A	17: 46,962,588 (GRCm39)	I73N	probably damaging	Het
Cyp2d12	C	A	15: 82,443,166 (GRCm39)	D358E	probably benign	Het
Cyp7a1	A	G	4: 6,272,788 (GRCm39)	S142P	possibly damaging	Het
Daw1	T	A	1: 83,183,647 (GRCm39)	C232*	probably null	Het
Dhx9	T	C	1: 153,353,835 (GRCm39)	K195R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpp3	A	G	19: 4,972,420 (GRCm39)	V168A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Erp44	A	T	4: 48,243,493 (GRCm39)	N38K	probably damaging	Het
Fam135a	A	G	1: 24,069,821 (GRCm39)		probably null	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fdps	T	C	3: 89,006,740 (GRCm39)	E117G	possibly damaging	Het
Gbp4	A	C	5: 105,283,030 (GRCm39)	V80G	possibly damaging	Het
Glt1d1	A	T	5: 127,754,335 (GRCm39)	D179V	probably damaging	Het
Gtf2a1l	T	A	17: 89,002,086 (GRCm39)	V314E	probably null	Het
Gzmf	G	T	14: 56,443,443 (GRCm39)	Y178*	probably null	Het
Hira	C	T	16: 18,751,727 (GRCm39)	P509S	probably benign	Het
Ifi44	T	C	3: 151,454,823 (GRCm39)	N134S	probably benign	Het
Igfbp2	T	A	1: 72,863,958 (GRCm39)	C74S	probably damaging	Het
Il24	A	G	1: 130,813,435 (GRCm39)	L54P	probably damaging	Het
Ints10	T	C	8: 69,274,904 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,311 (GRCm39)	C700R	possibly damaging	Het
Kalrn	T	A	16: 34,033,255 (GRCm39)	Q469L	probably damaging	Het
Lrp1b	T	G	2: 40,750,667 (GRCm39)	I2966L	probably benign	Het
Lta	C	A	17: 35,422,817 (GRCm39)	V169L	possibly damaging	Het
Lyst	T	C	13: 13,933,964 (GRCm39)	V3554A	possibly damaging	Het
Mobp	A	G	9: 119,997,392 (GRCm39)		probably benign	Het
Myorg	T	A	4: 41,498,445 (GRCm39)	N395I	probably damaging	Het
Or10d1	C	G	9: 39,484,549 (GRCm39)	R2T	probably benign	Het
Or4b1d	A	T	2: 89,968,954 (GRCm39)	C176*	probably null	Het
Or8c14-ps1	T	C	9: 38,101,299 (GRCm39)	S93P	probably benign	Het
Pacs1	A	T	19: 5,202,400 (GRCm39)		probably null	Het
Phf21a	G	T	2: 92,181,953 (GRCm39)		probably null	Het
Pick1	T	A	15: 79,123,896 (GRCm39)	M89K	probably damaging	Het
Pik3cb	T	C	9: 98,946,152 (GRCm39)	D558G	possibly damaging	Het
Pnma8a	A	G	7: 16,694,661 (GRCm39)	D172G	probably benign	Het
Polr2a	A	C	11: 69,627,803 (GRCm39)	V1368G	probably damaging	Het
Pomt2	A	G	12: 87,158,109 (GRCm39)		probably null	Het
Pou2f1	T	C	1: 165,703,056 (GRCm39)		probably benign	Het
Rnf145	T	C	11: 44,446,018 (GRCm39)	V284A	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,784,639 (GRCm39)		probably null	Het
Scamp1	A	C	13: 94,344,735 (GRCm39)	L202R	possibly damaging	Het
Snx25	C	T	8: 46,558,240 (GRCm39)	V110I	probably benign	Het
Spata31e2	G	A	1: 26,724,506 (GRCm39)	P225S	probably benign	Het
Susd6	T	A	12: 80,915,388 (GRCm39)	H124Q	possibly damaging	Het
Tarm1	T	C	7: 3,537,720 (GRCm39)	T248A	probably benign	Het
Tc2n	A	G	12: 101,675,748 (GRCm39)	M1T	probably null	Het
Tcerg1	C	A	18: 42,644,563 (GRCm39)		probably null	Het
Ticrr	C	A	7: 79,343,716 (GRCm39)	P1194T	probably damaging	Het
Trim31	T	G	17: 37,220,491 (GRCm39)	V469G	probably benign	Het
Vmn1r177	C	A	7: 23,565,267 (GRCm39)	S203I	probably damaging	Het
Vmn1r177	T	A	7: 23,565,268 (GRCm39)	S203C	probably damaging	Het
Vmn1r210	A	T	13: 23,012,277 (GRCm39)	L3*	probably null	Het
Wdr27	T	A	17: 15,152,796 (GRCm39)	R104*	probably null	Het
Wnk1	A	C	6: 119,940,747 (GRCm39)		probably null	Het
Zfp157	A	G	5: 138,453,281 (GRCm39)	E88G	possibly damaging	Het
Zfp708	A	T	13: 67,222,965 (GRCm39)	L22Q	probably damaging	Het
Zfp788	T	C	7: 41,299,785 (GRCm39)	F787S	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
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
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'- GCAACTTAGCTACCCACTGC -3'
(R):5'- TGTTTTCCCATTTACAGGACGC -3'

Sequencing Primer
(F):5'- TGCACCAAGATTACCTGAAGCTG -3'
(R):5'- ACGCAGTTGCACATTTGTATTTAGG -3'

Posted On

2017-10-10