Incidental Mutation 'R2299:Vcpip1'
ID 245247
Institutional Source Beutler Lab
Gene Symbol Vcpip1
Ensembl Gene ENSMUSG00000045210
Gene Name valosin containing protein (p97)/p47 complex interacting protein 1
Synonyms 5730538E15Rik, Vcip135, 5730421J18Rik
MMRRC Submission 040298-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.455) question?
Stock # R2299 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 9788847-9818607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9815944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 813 (L813S)
Ref Sequence ENSEMBL: ENSMUSP00000051248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057438]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000057438
AA Change: L813S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000051248
Gene: ENSMUSG00000045210
AA Change: L813S

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 19 36 N/A INTRINSIC
Pfam:OTU 213 354 3.3e-15 PFAM
low complexity region 754 772 N/A INTRINSIC
low complexity region 1001 1015 N/A INTRINSIC
low complexity region 1161 1173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209020
Meta Mutation Damage Score 0.1030 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: This gene encodes a deubiquitinating enzyme that interacts with valosin containing protein p97 and plays a role in the assembly of Golgi apparatus during mitosis. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,971,845 (GRCm39) N68S possibly damaging Het
5031439G07Rik A C 15: 84,837,486 (GRCm39) F276V possibly damaging Het
Abca12 C T 1: 71,297,381 (GRCm39) V2370I probably damaging Het
Acsl3 T G 1: 78,676,827 (GRCm39) C469W probably damaging Het
Adgrg5 A T 8: 95,665,204 (GRCm39) I372F possibly damaging Het
Ankrd42 A G 7: 92,239,462 (GRCm39) I442T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bmpr1b C A 3: 141,550,963 (GRCm39) R376L probably damaging Het
C1qtnf6 T A 15: 78,409,542 (GRCm39) T102S probably benign Het
Chordc1 T C 9: 18,213,404 (GRCm39) L85P probably damaging Het
Clec2j T A 6: 128,632,199 (GRCm39) noncoding transcript Het
Copa T C 1: 171,949,292 (GRCm39) I1223T probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyfip2 T A 11: 46,176,958 (GRCm39) E74V probably benign Het
Dsg1a A T 18: 20,473,207 (GRCm39) D760V probably damaging Het
Folr1 A G 7: 101,513,199 (GRCm39) L32P probably damaging Het
Galnt13 A T 2: 54,950,595 (GRCm39) R425S possibly damaging Het
Gm4559 A T 7: 141,827,572 (GRCm39) C177S unknown Het
H2bc9 A G 13: 23,727,354 (GRCm39) S57P probably damaging Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Kansl1l T C 1: 66,812,636 (GRCm39) D459G probably damaging Het
Limd1 A T 9: 123,345,942 (GRCm39) K574* probably null Het
Mmrn1 A G 6: 60,953,425 (GRCm39) K569E probably damaging Het
Or51f1d T C 7: 102,700,789 (GRCm39) W95R probably damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Ppwd1 T C 13: 104,356,571 (GRCm39) M315V probably benign Het
Prss21 A G 17: 24,088,563 (GRCm39) E176G probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Rit1 T A 3: 88,633,377 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,138 (GRCm39) A176V probably benign Het
Sema5a T A 15: 32,562,922 (GRCm39) V311E possibly damaging Het
Slc28a2 C T 2: 122,272,259 (GRCm39) Q34* probably null Het
Spire1 A C 18: 67,663,493 (GRCm39) L36R probably damaging Het
Usp33 T A 3: 152,080,258 (GRCm39) V463E probably damaging Het
Vmn1r174 A T 7: 23,453,429 (GRCm39) I32F probably benign Het
Zbtb24 G A 10: 41,340,577 (GRCm39) V536M probably damaging Het
Other mutations in Vcpip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Vcpip1 APN 1 9,795,175 (GRCm39) missense possibly damaging 0.75
IGL02888:Vcpip1 APN 1 9,795,011 (GRCm39) missense probably damaging 0.98
IGL03246:Vcpip1 APN 1 9,816,182 (GRCm39) missense probably benign 0.00
R0243:Vcpip1 UTSW 1 9,817,431 (GRCm39) nonsense probably null
R0968:Vcpip1 UTSW 1 9,816,604 (GRCm39) missense probably damaging 1.00
R1139:Vcpip1 UTSW 1 9,816,948 (GRCm39) missense probably damaging 0.98
R1230:Vcpip1 UTSW 1 9,795,449 (GRCm39) missense probably damaging 1.00
R1524:Vcpip1 UTSW 1 9,794,727 (GRCm39) missense probably damaging 1.00
R1989:Vcpip1 UTSW 1 9,815,788 (GRCm39) missense probably benign 0.11
R2135:Vcpip1 UTSW 1 9,818,035 (GRCm39) missense probably benign 0.01
R4692:Vcpip1 UTSW 1 9,818,299 (GRCm39) missense unknown
R4855:Vcpip1 UTSW 1 9,817,589 (GRCm39) missense probably damaging 1.00
R4883:Vcpip1 UTSW 1 9,817,423 (GRCm39) missense probably damaging 1.00
R4891:Vcpip1 UTSW 1 9,818,287 (GRCm39) missense unknown
R4897:Vcpip1 UTSW 1 9,817,572 (GRCm39) missense probably damaging 0.97
R5141:Vcpip1 UTSW 1 9,818,302 (GRCm39) missense unknown
R5465:Vcpip1 UTSW 1 9,817,372 (GRCm39) missense probably benign 0.16
R5651:Vcpip1 UTSW 1 9,818,065 (GRCm39) missense probably damaging 0.99
R5664:Vcpip1 UTSW 1 9,816,604 (GRCm39) missense probably damaging 0.99
R6131:Vcpip1 UTSW 1 9,817,517 (GRCm39) missense probably damaging 0.99
R6187:Vcpip1 UTSW 1 9,795,005 (GRCm39) missense probably damaging 1.00
R7042:Vcpip1 UTSW 1 9,818,378 (GRCm39) missense unknown
R7268:Vcpip1 UTSW 1 9,816,307 (GRCm39) missense probably damaging 0.99
R7417:Vcpip1 UTSW 1 9,816,540 (GRCm39) missense probably benign 0.00
R7464:Vcpip1 UTSW 1 9,816,745 (GRCm39) missense probably damaging 0.99
R8138:Vcpip1 UTSW 1 9,818,334 (GRCm39) small deletion probably benign
R8350:Vcpip1 UTSW 1 9,794,831 (GRCm39) missense probably benign
R8450:Vcpip1 UTSW 1 9,794,831 (GRCm39) missense probably benign
R9310:Vcpip1 UTSW 1 9,817,927 (GRCm39) missense possibly damaging 0.93
R9359:Vcpip1 UTSW 1 9,816,049 (GRCm39) missense possibly damaging 0.71
R9403:Vcpip1 UTSW 1 9,816,049 (GRCm39) missense possibly damaging 0.71
R9404:Vcpip1 UTSW 1 9,817,856 (GRCm39) missense probably damaging 1.00
R9564:Vcpip1 UTSW 1 9,817,456 (GRCm39) missense possibly damaging 0.94
R9572:Vcpip1 UTSW 1 9,816,770 (GRCm39) missense possibly damaging 0.92
R9598:Vcpip1 UTSW 1 9,816,019 (GRCm39) missense probably benign 0.02
R9716:Vcpip1 UTSW 1 9,815,948 (GRCm39) missense probably benign 0.00
Z1177:Vcpip1 UTSW 1 9,817,307 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCAATCTCTTCTTGTTTCACAG -3'
(R):5'- CAGCCCAGAACTGTTTCTCC -3'

Sequencing Primer
(F):5'- AATCTCTTCTTGTTTCACAGTGTGG -3'
(R):5'- CAAGTACTATTCGTGATGGGCCATC -3'
Posted On 2014-10-30