Incidental Mutation 'R6131:Vcpip1'
ID487115
Institutional Source Beutler Lab
Gene Symbol Vcpip1
Ensembl Gene ENSMUSG00000045210
Gene Namevalosin containing protein (p97)/p47 complex interacting protein 1
Synonyms5730421J18Rik, Vcip135, 5730538E15Rik
MMRRC Submission 044278-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.376) question?
Stock #R6131 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location9718622-9748382 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9747292 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 289 (I289V)
Ref Sequence ENSEMBL: ENSMUSP00000051248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057438]
Predicted Effect probably damaging
Transcript: ENSMUST00000057438
AA Change: I289V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051248
Gene: ENSMUSG00000045210
AA Change: I289V

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 0.1521 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,960,592 W75R probably damaging Het
Abca15 T C 7: 120,340,205 V274A probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Ap1m2 T C 9: 21,296,501 Y396C probably damaging Het
Apob T C 12: 8,015,874 S405P probably benign Het
Arhgap26 G T 18: 39,286,585 G533* probably null Het
Atxn2l T C 7: 126,503,165 probably benign Het
Ccdc88c A T 12: 100,941,128 L995H probably damaging Het
Cep192 A G 18: 67,837,997 H1023R possibly damaging Het
Cog5 T A 12: 31,886,221 M589K possibly damaging Het
Col25a1 C A 3: 130,535,465 P337Q probably damaging Het
Cyfip1 T G 7: 55,873,480 V51G possibly damaging Het
Dnah7b A T 1: 46,253,466 I3004F probably damaging Het
Dsg3 A T 18: 20,538,512 D758V probably damaging Het
Dsg3 A G 18: 20,520,477 probably null Het
Eml5 A T 12: 98,861,251 H573Q probably damaging Het
Erp27 T C 6: 136,908,203 D199G probably damaging Het
Flnb A G 14: 7,894,635 Y811C possibly damaging Het
G6pd2 A T 5: 61,809,250 S123C probably benign Het
Gm17677 T A 9: 35,741,544 C27* probably null Het
Gm1818 T A 12: 48,555,536 noncoding transcript Het
Gm29340 C T 2: 116,968,038 noncoding transcript Het
Gm8298 A G 3: 59,868,903 K165R possibly damaging Het
Hcn2 G T 10: 79,733,908 G581W probably damaging Het
Hist1h2bf C A 13: 23,574,136 probably benign Het
Kidins220 T C 12: 24,992,314 probably null Het
Lonp1 T C 17: 56,614,457 E926G probably benign Het
Lrp1 T C 10: 127,560,157 I2415V probably benign Het
Mmel1 C T 4: 154,895,018 H728Y probably damaging Het
Mmp10 A G 9: 7,503,632 probably null Het
Myo16 T A 8: 10,569,877 I1476N probably benign Het
Nectin3 G T 16: 46,395,152 H76N probably damaging Het
Nov A G 15: 54,749,360 D255G probably benign Het
Nphs2 G A 1: 156,325,951 R204Q probably damaging Het
Olfr194 T C 16: 59,119,893 Y59C probably damaging Het
Olfr883 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 38,026,540 probably null Het
Olfr920 T A 9: 38,756,066 I126N probably damaging Het
Otx1 A T 11: 21,999,406 L24H probably damaging Het
Psme2b T C 11: 48,945,925 D65G probably damaging Het
Rlf T C 4: 121,154,975 K214E probably damaging Het
Rnasel A T 1: 153,754,460 T241S probably damaging Het
Samd9l C G 6: 3,377,252 G3A probably benign Het
Smg7 A G 1: 152,845,211 probably null Het
Spag16 A G 1: 70,725,083 probably null Het
Spata31d1c T A 13: 65,035,671 D342E probably benign Het
Stab2 A G 10: 86,883,778 probably null Het
Taar7b A T 10: 24,000,717 Y260F probably benign Het
Vmn2r39 A G 7: 9,014,964 V791A probably damaging Het
Vmn2r66 T A 7: 84,995,016 I729F probably damaging Het
Vmn2r-ps130 C T 17: 23,063,655 A103V probably benign Het
Zfp536 T A 7: 37,569,712 D93V probably damaging Het
Other mutations in Vcpip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02341:Vcpip1 APN 1 9724950 missense possibly damaging 0.75
IGL02888:Vcpip1 APN 1 9724786 missense probably damaging 0.98
IGL03246:Vcpip1 APN 1 9745957 missense probably benign 0.00
R0243:Vcpip1 UTSW 1 9747206 nonsense probably null
R0968:Vcpip1 UTSW 1 9746379 missense probably damaging 1.00
R1139:Vcpip1 UTSW 1 9746723 missense probably damaging 0.98
R1230:Vcpip1 UTSW 1 9725224 missense probably damaging 1.00
R1524:Vcpip1 UTSW 1 9724502 missense probably damaging 1.00
R1989:Vcpip1 UTSW 1 9745563 missense probably benign 0.11
R2135:Vcpip1 UTSW 1 9747810 missense probably benign 0.01
R2299:Vcpip1 UTSW 1 9745719 missense possibly damaging 0.71
R4692:Vcpip1 UTSW 1 9748074 missense unknown
R4855:Vcpip1 UTSW 1 9747364 missense probably damaging 1.00
R4883:Vcpip1 UTSW 1 9747198 missense probably damaging 1.00
R4891:Vcpip1 UTSW 1 9748062 missense unknown
R4897:Vcpip1 UTSW 1 9747347 missense probably damaging 0.97
R5141:Vcpip1 UTSW 1 9748077 missense unknown
R5465:Vcpip1 UTSW 1 9747147 missense probably benign 0.16
R5651:Vcpip1 UTSW 1 9747840 missense probably damaging 0.99
R5664:Vcpip1 UTSW 1 9746379 missense probably damaging 0.99
R6187:Vcpip1 UTSW 1 9724780 missense probably damaging 1.00
R7042:Vcpip1 UTSW 1 9748153 missense unknown
R7268:Vcpip1 UTSW 1 9746082 missense probably damaging 0.99
R7417:Vcpip1 UTSW 1 9746315 missense probably benign 0.00
R7464:Vcpip1 UTSW 1 9746520 missense probably damaging 0.99
R8138:Vcpip1 UTSW 1 9748109 small deletion probably benign
R8350:Vcpip1 UTSW 1 9724606 missense probably benign
R8450:Vcpip1 UTSW 1 9724606 missense probably benign
Z1177:Vcpip1 UTSW 1 9747082 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCAATACAGATTGGCTTGTTC -3'
(R):5'- ATCCCAGTGCATGTGGATGG -3'

Sequencing Primer
(F):5'- CAGATTGGCTTGTTCAAATGACC -3'
(R):5'- TCTAGTAGGCCGAGAGCTCTTC -3'
Posted On2017-10-10