Mutagenetix > Incidental Mutation

Incidental Mutation 'R9572:Vcpip1'

722028

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

Accession Numbers

Essential gene?

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

Stock #

R9572 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9788847-9818607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9816770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 538 (N538D)

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: N538D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051248
Gene: ENSMUSG00000045210
AA Change: N538D

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,748,477 (GRCm39)	S1083P	probably damaging	Het
Aldh6a1	C	A	12: 84,487,017 (GRCm39)	R140L	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Anapc1	G	T	2: 128,505,976 (GRCm39)	T620K	probably benign	Het
Ano1	T	A	7: 144,204,293 (GRCm39)		probably null	Het
Apol9a	C	T	15: 77,288,804 (GRCm39)	A188T	probably benign	Het
Ash1l	A	G	3: 88,960,188 (GRCm39)	K2307E	probably damaging	Het
Astn2	A	T	4: 65,299,872 (GRCm39)	S1292R	unknown	Het
Asxl3	T	A	18: 22,649,112 (GRCm39)	V367D	probably benign	Het
B3gnt7	T	A	1: 86,233,492 (GRCm39)	L246Q	probably damaging	Het
B4gat1	T	G	19: 5,089,474 (GRCm39)	L157R	probably damaging	Het
Bag4	A	T	8: 26,258,303 (GRCm39)	Y341*	probably null	Het
Bccip	G	A	7: 133,322,478 (GRCm39)	D275N	probably damaging	Het
Cd109	T	A	9: 78,567,588 (GRCm39)	F267I	probably benign	Het
Cfap221	T	A	1: 119,873,566 (GRCm39)	D487V	probably damaging	Het
Chpt1	T	C	10: 88,316,806 (GRCm39)	I217M	probably damaging	Het
Clock	T	C	5: 76,377,338 (GRCm39)	T654A	probably benign	Het
Ctsr	A	G	13: 61,310,978 (GRCm39)	S23P	probably benign	Het
Dst	T	A	1: 34,250,252 (GRCm39)	Y2055N	probably damaging	Het
F7	A	T	8: 13,083,953 (GRCm39)	I213F	probably benign	Het
Grb14	A	G	2: 64,763,680 (GRCm39)	Y232H	probably damaging	Het
Gsg1l2	A	G	11: 67,677,301 (GRCm39)	N190S	probably benign	Het
Hrnr	A	G	3: 93,239,467 (GRCm39)	Y3235C	unknown	Het
Iws1	T	A	18: 32,203,257 (GRCm39)	S44R	probably damaging	Het
Kif26b	A	T	1: 178,745,042 (GRCm39)	T1713S	probably benign	Het
Lama4	C	T	10: 38,959,271 (GRCm39)	R1230C	probably damaging	Het
Lrrcc1	G	A	3: 14,601,148 (GRCm39)	W60*	probably null	Het
Mcur1	A	G	13: 43,713,433 (GRCm39)	F57S	probably benign	Het
Mrc1	T	C	2: 14,234,334 (GRCm39)	L4P	probably benign	Het
Msh5	T	C	17: 35,250,369 (GRCm39)	Y548C	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nckap5	T	A	1: 125,955,454 (GRCm39)	N366I	probably benign	Het
Nr4a3	T	A	4: 48,051,258 (GRCm39)	V4E	probably damaging	Het
Nuak1	C	A	10: 84,228,179 (GRCm39)	V175L	probably damaging	Het
Or2ag13	A	G	7: 106,313,546 (GRCm39)	L114P	probably damaging	Het
Or5b106	T	A	19: 13,123,928 (GRCm39)	I32F	possibly damaging	Het
Or5w1	A	G	2: 87,486,914 (GRCm39)	V117A	probably benign	Het
Or8b49	A	T	9: 38,505,627 (GRCm39)	I37L	probably benign	Het
Phactr2	C	T	10: 13,264,561 (GRCm39)		probably benign	Het
Pomk	T	C	8: 26,472,936 (GRCm39)	D339G	possibly damaging	Het
Ppp2r5e	A	T	12: 75,562,468 (GRCm39)	Y88N	probably benign	Het
Ptma	T	A	1: 86,457,697 (GRCm39)	V100E	unknown	Het
Rab3b	T	C	4: 108,786,725 (GRCm39)		probably null	Het
Rp1	G	A	1: 4,418,662 (GRCm39)	H817Y	probably benign	Het
Rpn1	T	A	6: 88,078,994 (GRCm39)	I479N	probably damaging	Het
Sdk1	G	A	5: 141,595,784 (GRCm39)	G147R	probably damaging	Het
Serpina3i	C	A	12: 104,234,743 (GRCm39)	T358K	probably damaging	Het
Siglecf	A	G	7: 43,002,058 (GRCm39)	K231R	possibly damaging	Het
Skint6	C	T	4: 112,985,128 (GRCm39)	V413I	probably benign	Het
Spata7	T	C	12: 98,614,655 (GRCm39)	C96R	probably damaging	Het
Sptbn4	A	T	7: 27,066,095 (GRCm39)	V1991E	probably benign	Het
Sstr2	A	G	11: 113,516,017 (GRCm39)	Y312C	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tcerg1l	C	T	7: 137,881,787 (GRCm39)	A301T	probably benign	Het
Tmub2	T	A	11: 102,176,541 (GRCm39)	M11K		Het
Trpc6	T	A	9: 8,656,622 (GRCm39)	V761D	possibly damaging	Het
Ttll13	A	T	7: 79,908,008 (GRCm39)	N510I	probably benign	Het
Vmn2r100	A	T	17: 19,741,513 (GRCm39)	Y75F	probably benign	Het
Vwa5a	A	G	9: 38,649,239 (GRCm39)	I662M	probably benign	Het
Xkr5	A	G	8: 18,984,166 (GRCm39)	S459P	probably benign	Het
Zfp106	G	A	2: 120,349,559 (GRCm39)	T1644I	probably damaging	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
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
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'- CTCCAAAGTGATAGGAAAAGCTTCTG -3'
(R):5'- TCGCCTTCACAAGTGTTTGC -3'

Sequencing Primer
(F):5'- GCTTCTGGAAGATTGTCATACTC -3'
(R):5'- GAACTTCATGTCCCTTCTGAGTGG -3'

Posted On

2022-08-09