Mutagenetix > Incidental Mutation

Incidental Mutation 'R8450:Vcpip1'

654686

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

067830-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R8450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9788847-9818607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9794831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1180 (V1180A)

Ref Sequence

ENSEMBL: ENSMUSP00000051248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057438]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057438
AA Change: V1180A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051248
Gene: ENSMUSG00000045210
AA Change: V1180A

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Adgrv1	T	A	13: 81,583,962 (GRCm39)		probably null	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Armc12	T	A	17: 28,751,031 (GRCm39)	D82E	probably damaging	Het
Atg2a	T	C	19: 6,296,841 (GRCm39)	S382P	probably benign	Het
Bola1	G	A	3: 96,104,573 (GRCm39)	A7V	probably benign	Het
Cep170	A	G	1: 176,564,445 (GRCm39)	L271S		Het
Cers3	T	C	7: 66,414,090 (GRCm39)	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,450,746 (GRCm39)	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,882,821 (GRCm39)	K202*	probably null	Het
Cnp	T	C	11: 100,467,267 (GRCm39)	I70T	probably damaging	Het
Col27a1	C	A	4: 63,248,134 (GRCm39)	T1721K	unknown	Het
Crtac1	G	A	19: 42,297,625 (GRCm39)	R242W	probably damaging	Het
Cry2	T	C	2: 92,244,286 (GRCm39)	R296G	probably benign	Het
Cyp2t4	A	G	7: 26,856,806 (GRCm39)	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,100,690 (GRCm39)	T1495N	probably damaging	Het
Dmbt1	T	C	7: 130,687,147 (GRCm39)		probably null	Het
Dmp1	A	T	5: 104,360,765 (GRCm39)	K480N	probably damaging	Het
Dnah17	A	G	11: 117,977,873 (GRCm39)	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,172,798 (GRCm39)	V220A	probably benign	Het
Eif4a3l1	C	T	6: 136,306,241 (GRCm39)	T234I	possibly damaging	Het
Epha3	T	C	16: 63,472,853 (GRCm39)	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,327,102 (GRCm39)	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,461,663 (GRCm39)	D116V	probably damaging	Het
Fam81a	T	C	9: 70,032,300 (GRCm39)	N64S	probably damaging	Het
Fat3	T	A	9: 15,826,435 (GRCm39)	T358S		Het
Frat2	A	T	19: 41,836,223 (GRCm39)	I43N	probably damaging	Het
Fryl	A	T	5: 73,226,073 (GRCm39)	D1863E	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,422,573 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,363,273 (GRCm39)	Y422C	probably damaging	Het
Hap1	T	G	11: 100,240,107 (GRCm39)	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,475,951 (GRCm39)	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,780,390 (GRCm39)	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,297,734 (GRCm39)	L341R	probably benign	Het
Kbtbd11	G	A	8: 15,078,603 (GRCm39)	V401M	probably damaging	Het
Lss	T	A	10: 76,371,429 (GRCm39)	L120Q	probably damaging	Het
Mdc1	T	G	17: 36,159,191 (GRCm39)	S524A	probably benign	Het
Myoz3	T	C	18: 60,712,074 (GRCm39)	Y168C	probably damaging	Het
Nceh1	C	A	3: 27,293,813 (GRCm39)	D190E	probably damaging	Het
Neb	T	C	2: 52,096,194 (GRCm39)	R5039G	probably benign	Het
Nup50	T	A	15: 84,819,476 (GRCm39)	V250E	probably benign	Het
Pcnx3	T	A	19: 5,723,254 (GRCm39)	N1314Y	probably damaging	Het
Pdzk1	A	G	3: 96,759,024 (GRCm39)	N143S	probably benign	Het
Rnf223	T	G	4: 156,217,120 (GRCm39)	L165R	probably damaging	Het
Sbf1	A	T	15: 89,183,712 (GRCm39)	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,160,113 (GRCm39)	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 56,135,363 (GRCm39)	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,448,191 (GRCm39)	R71G	probably benign	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Syk	T	C	13: 52,774,935 (GRCm39)	L225P	probably damaging	Het
Tbx1	A	T	16: 18,400,795 (GRCm39)	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891 (GRCm39)	R19H	probably benign	Het
Ttn	T	A	2: 76,609,108 (GRCm39)	I17666F	possibly damaging	Het
Vps13a	C	T	19: 16,631,871 (GRCm39)		probably null	Het
Wdr27	T	C	17: 15,152,787 (GRCm39)	T107A	probably benign	Het
Zfp106	T	C	2: 120,366,099 (GRCm39)	R58G		Het

Other mutations in Vcpip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2299:Vcpip1	UTSW	1	9,815,944 (GRCm39)	missense	possibly damaging	0.71
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
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'- TACTCAAGTTATGTGGCCCAGC -3'
(R):5'- ATTCAGGCTTCAATGGACAAGC -3'

Sequencing Primer
(F):5'- GCCCAGCCAACAAATATTACATATTC -3'
(R):5'- GCTTCAATGGACAAGCACTTG -3'

Posted On

2020-10-20