Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01090:Mvp'

51494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mvp

Ensembl Gene

ENSMUSG00000030681

Gene Name

major vault protein

Synonyms

VAULT1, LRP, 2310009M24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

126586032-126613766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126588859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 636 (V636A)

Ref Sequence

ENSEMBL: ENSMUSP00000127250 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165096
AA Change: V636A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: V636A

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,896,099 (GRCm39)	S316P	possibly damaging	Het
Actn1	A	T	12: 80,245,846 (GRCm39)		probably null	Het
Agbl3	T	C	6: 34,776,822 (GRCm39)	Y443H	probably benign	Het
Akap13	T	A	7: 75,316,279 (GRCm39)	D578E	probably benign	Het
Aldoa	A	T	7: 126,395,207 (GRCm39)	H292Q	probably benign	Het
Als2	T	C	1: 59,254,775 (GRCm39)	K194R	possibly damaging	Het
Bivm	C	A	1: 44,168,451 (GRCm39)	H244N	probably damaging	Het
Cabp5	G	A	7: 13,139,412 (GRCm39)	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap251	A	C	5: 123,418,052 (GRCm39)		probably benign	Het
Clcn4	A	G	7: 7,297,035 (GRCm39)	V129A	probably benign	Het
Clec4g	A	G	8: 3,769,482 (GRCm39)	S54P	probably damaging	Het
Crim1	G	T	17: 78,654,658 (GRCm39)	V645L	probably damaging	Het
Csta1	T	C	16: 35,945,421 (GRCm39)	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,544,610 (GRCm39)		probably benign	Het
Dhx34	G	T	7: 15,950,181 (GRCm39)	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,702,912 (GRCm39)	N193S	probably benign	Het
Fbn1	A	G	2: 125,236,696 (GRCm39)		probably benign	Het
Fbxo46	A	G	7: 18,870,728 (GRCm39)	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,637,354 (GRCm39)		probably null	Het
Foxi3	C	A	6: 70,937,729 (GRCm39)	N320K	probably damaging	Het
Gm9964	A	G	11: 79,187,210 (GRCm39)	L79P	unknown	Het
Gpr161	T	C	1: 165,134,149 (GRCm39)	I137T	probably damaging	Het
Herc1	C	T	9: 66,376,457 (GRCm39)	Q3426*	probably null	Het
Hps5	C	T	7: 46,437,751 (GRCm39)	R108H	probably benign	Het
Itch	T	A	2: 155,048,256 (GRCm39)	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,807,925 (GRCm39)	P520H	probably damaging	Het
Odf4	A	G	11: 68,812,778 (GRCm39)		probably benign	Het
Or7g18	A	G	9: 18,787,538 (GRCm39)	K305R	probably benign	Het
Pld1	T	C	3: 28,142,816 (GRCm39)	S675P	probably benign	Het
Plod3	A	G	5: 137,019,090 (GRCm39)	D325G	probably benign	Het
Prss12	T	C	3: 123,276,388 (GRCm39)	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,689,180 (GRCm39)	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833 (GRCm39)	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,858,124 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,847 (GRCm39)	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,557,208 (GRCm39)	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,354,233 (GRCm39)	I139T	probably benign	Het
Sspo	T	A	6: 48,467,059 (GRCm39)	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,663,556 (GRCm39)	C108F	probably benign	Het
Tnc	T	C	4: 63,918,317 (GRCm39)	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,645,320 (GRCm39)	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,093 (GRCm39)	E713V	probably damaging	Het
Ugt2b34	C	A	5: 87,041,679 (GRCm39)	V338F	probably damaging	Het
Usp40	T	A	1: 87,890,187 (GRCm39)	M892L	probably benign	Het
Usp54	A	T	14: 20,636,225 (GRCm39)		probably benign	Het
Vmn2r53	T	C	7: 12,334,835 (GRCm39)	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,333,247 (GRCm39)	M1T	probably null	Het
Wdr83os	A	T	8: 85,808,476 (GRCm39)	D76V	probably damaging	Het

Other mutations in Mvp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21