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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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