Mutagenetix > Incidental Mutation

Incidental Mutation 'R7580:Mvp'

586688

Institutional Source

Beutler Lab

Gene Symbol

Mvp

Ensembl Gene

ENSMUSG00000030681

Gene Name

major vault protein

Synonyms

VAULT1, LRP, 2310009M24Rik

MMRRC Submission

045664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126586032-126613766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126591483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 542 (D542G)

Ref Sequence

ENSEMBL: ENSMUSP00000127250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165096]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000165096
AA Change: D542G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: D542G

Domain	Start	End	E-Value	Type
Pfam:Vault	122	163	5.4e-18	PFAM
Pfam:Vault	175	215	7.7e-16	PFAM
Pfam:Vault	228	271	7.9e-14	PFAM
Pfam:Vault	333	377	2.8e-16	PFAM
Pfam:MVP_shoulder	528	656	5.9e-55	PFAM
low complexity region	707	720	N/A	INTRINSIC
low complexity region	733	749	N/A	INTRINSIC
low complexity region	751	761	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Targeted disruption of this gene does not induce hypersensitivity to various cytostatic agents. Homozygotes are viable, healthy and phenotypically normal and exhibit unimpaired dendritic cell maturation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,993,040 (GRCm39)	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,802,980 (GRCm39)	S462P	probably benign	Het
Adamtsl1	T	A	4: 85,972,301 (GRCm39)	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836 (GRCm39)	E123K	probably benign	Het
Brip1	A	G	11: 86,048,427 (GRCm39)	L305P	probably damaging	Het
Cage1	T	A	13: 38,206,700 (GRCm39)	I382F	possibly damaging	Het
Cfap52	T	A	11: 67,837,146 (GRCm39)	K205I	probably damaging	Het
Cmtr2	T	A	8: 110,948,309 (GRCm39)	N206K	probably damaging	Het
Defb34	G	A	8: 19,176,426 (GRCm39)	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,428,296 (GRCm39)	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,816,423 (GRCm39)	A325V	probably benign	Het
Dnah8	A	G	17: 30,994,077 (GRCm39)	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,183,130 (GRCm39)	I96K	probably damaging	Het
Endov	C	T	11: 119,390,692 (GRCm39)		probably benign	Het
Fer1l6	A	T	15: 58,430,245 (GRCm39)	Q224L	probably benign	Het
Fmo2	T	C	1: 162,704,613 (GRCm39)	N431S	possibly damaging	Het
Gata3	A	C	2: 9,867,943 (GRCm39)	V337G	probably damaging	Het
Gtse1	G	A	15: 85,746,432 (GRCm39)	V83M	probably damaging	Het
Hgd	C	A	16: 37,439,241 (GRCm39)	P224H	possibly damaging	Het
Kcnh6	T	C	11: 105,908,374 (GRCm39)	V330A	probably damaging	Het
Kiz	C	G	2: 146,798,169 (GRCm39)	I631M	probably damaging	Het
Klhl18	T	C	9: 110,265,118 (GRCm39)	D366G	probably benign	Het
Lrmda	C	T	14: 22,069,925 (GRCm39)		probably benign	Het
Mc1r	G	T	8: 124,134,906 (GRCm39)	A220S	probably damaging	Het
Megf6	T	A	4: 154,355,201 (GRCm39)	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,144 (GRCm39)	R355*	probably null	Het
Mmp28	T	A	11: 83,335,658 (GRCm39)	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,370,488 (GRCm39)	A70T	probably damaging	Het
Mtif3	T	G	5: 146,895,757 (GRCm39)	D110A	possibly damaging	Het
Mtss2	G	A	8: 111,464,268 (GRCm39)	R361H	possibly damaging	Het
Nlrp5	T	C	7: 23,133,174 (GRCm39)	C940R	probably damaging	Het
Nmur2	C	T	11: 55,917,808 (GRCm39)	V394I	probably benign	Het
Nwd2	A	G	5: 63,965,624 (GRCm39)	H1736R	probably benign	Het
Or2n1c	T	C	17: 38,519,934 (GRCm39)	I266T	probably benign	Het
Pira13	A	T	7: 3,827,611 (GRCm39)	F182Y	unknown	Het
Purg	A	G	8: 33,906,661 (GRCm39)	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,765,013 (GRCm39)	M880L	probably benign	Het
Rap1gap	T	C	4: 137,447,293 (GRCm39)	F413L	possibly damaging	Het
Sart3	A	T	5: 113,892,440 (GRCm39)		probably null	Het
Scaf4	G	A	16: 90,026,740 (GRCm39)	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,819,735 (GRCm39)	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,065,330 (GRCm39)	V184L		Het
Slc5a11	C	T	7: 122,864,421 (GRCm39)	A339V	probably damaging	Het
Stab2	A	T	10: 86,705,028 (GRCm39)	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,387,056 (GRCm39)	D172N	probably benign	Het
Tasor	A	G	14: 27,188,243 (GRCm39)	I896M	probably benign	Het
Tasor2	G	A	13: 3,624,752 (GRCm39)	P1733S	probably damaging	Het
Thoc1	A	T	18: 9,986,343 (GRCm39)	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ttll8	A	C	15: 88,818,132 (GRCm39)	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,461,784 (GRCm39)	Q159*	probably null	Het
Xrn1	A	G	9: 95,893,732 (GRCm39)	H967R	not run	Het
Zeb2	T	C	2: 44,884,544 (GRCm39)	D1049G	probably damaging	Het

Other mutations in Mvp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Mvp	APN	7	126,588,859 (GRCm39)	missense	probably benign	0.01
IGL01503:Mvp	APN	7	126,601,133 (GRCm39)	splice site	probably benign
IGL02043:Mvp	APN	7	126,592,790 (GRCm39)	missense	probably damaging	1.00
IGL03412:Mvp	APN	7	126,592,735 (GRCm39)	missense	probably damaging	1.00
R0148:Mvp	UTSW	7	126,589,037 (GRCm39)	missense	probably damaging	1.00
R0458:Mvp	UTSW	7	126,597,663 (GRCm39)	missense	probably damaging	1.00
R0811:Mvp	UTSW	7	126,586,728 (GRCm39)	missense	probably benign
R0812:Mvp	UTSW	7	126,586,728 (GRCm39)	missense	probably benign
R1625:Mvp	UTSW	7	126,600,845 (GRCm39)	missense	probably damaging	1.00
R1707:Mvp	UTSW	7	126,600,744 (GRCm39)	missense	probably benign
R1711:Mvp	UTSW	7	126,594,907 (GRCm39)	critical splice donor site	probably null
R1776:Mvp	UTSW	7	126,591,933 (GRCm39)	missense	probably benign	0.27
R3814:Mvp	UTSW	7	126,586,801 (GRCm39)	missense	probably benign
R4065:Mvp	UTSW	7	126,595,489 (GRCm39)	missense	probably damaging	1.00
R4273:Mvp	UTSW	7	126,588,875 (GRCm39)	missense	probably benign	0.16
R4471:Mvp	UTSW	7	126,601,130 (GRCm39)	start codon destroyed	probably null
R4652:Mvp	UTSW	7	126,592,721 (GRCm39)	missense	probably damaging	1.00
R4693:Mvp	UTSW	7	126,597,500 (GRCm39)	missense	probably damaging	0.98
R4972:Mvp	UTSW	7	126,588,970 (GRCm39)	missense	probably damaging	0.99
R5031:Mvp	UTSW	7	126,592,788 (GRCm39)	nonsense	probably null
R5530:Mvp	UTSW	7	126,595,095 (GRCm39)	missense	probably benign	0.45
R7053:Mvp	UTSW	7	126,586,776 (GRCm39)	missense	possibly damaging	0.90
R7324:Mvp	UTSW	7	126,592,781 (GRCm39)	missense	probably benign
R8146:Mvp	UTSW	7	126,586,171 (GRCm39)	missense	probably benign	0.15
R9180:Mvp	UTSW	7	126,591,822 (GRCm39)	missense	probably benign	0.04
R9197:Mvp	UTSW	7	126,588,959 (GRCm39)	missense	probably damaging	0.99
R9351:Mvp	UTSW	7	126,595,435 (GRCm39)	missense	probably damaging	0.99
R9727:Mvp	UTSW	7	126,595,040 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTACTATAACCATTGTTTCTGCAG -3'
(R):5'- CACAGTGTGGTCTTTGGGCC -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- CCTGAGCTAGTGTCACTGGATC -3'

Posted On

2019-10-24