Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Mvp'

174967

Institutional Source

Beutler Lab

Gene Symbol

Mvp

Ensembl Gene

ENSMUSG00000030681

Gene Name

major vault protein

Synonyms

VAULT1, LRP, 2310009M24Rik

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126586032-126613766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126600845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 52 (V52E)

Ref Sequence

ENSEMBL: ENSMUSP00000119213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133172] [ENSMUST00000165096]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000133172
AA Change: V52E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119213
Gene: ENSMUSG00000030681
AA Change: V52E

Domain	Start	End	E-Value	Type
Pfam:Vault	25	64	3.3e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165096
AA Change: V52E

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: V52E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172958

SMART Domains

Protein: ENSMUSP00000134420
Gene: ENSMUSG00000092534

Domain	Start	End	E-Value	Type
Pfam:PAXIP1_C	1	72	1.7e-30	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc17a6	C	A	7: 51,311,208 (GRCm39)	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	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
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
R7580:Mvp	UTSW	7	126,591,483 (GRCm39)	missense	probably damaging	1.00
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'- GTGAGTCGTCTTTGCCCCTGATAAG -3'
(R):5'- TGTGCTGGACCAGAACAGTAATGTG -3'

Sequencing Primer
(F):5'- CTTTGCCCCTGATAAGAATCCATAG -3'
(R):5'- AACAGTAATGTGTCCCGTGTAG -3'

Posted On

2014-04-24