Incidental Mutation 'R3814:Mvp'
| ID |
274195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mvp
|
| Ensembl Gene |
ENSMUSG00000030681 |
| Gene Name |
major vault protein |
| Synonyms |
VAULT1, LRP, 2310009M24Rik |
| MMRRC Submission |
040769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126586032-126613766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126586801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 777
(M777L)
|
| 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: M777L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: M777L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,642,343 (GRCm39) |
V4A |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,964,570 (GRCm39) |
|
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,248,712 (GRCm39) |
W274L |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,959,166 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Cyp2c55 |
T |
A |
19: 38,995,509 (GRCm39) |
L7Q |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,383,476 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
G |
A |
7: 35,426,717 (GRCm39) |
Q64* |
probably null |
Het |
| Enthd1 |
T |
A |
15: 80,336,883 (GRCm39) |
Y517F |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| G2e3 |
C |
T |
12: 51,400,444 (GRCm39) |
T32I |
probably benign |
Het |
| Glb1l2 |
A |
G |
9: 26,682,330 (GRCm39) |
S302P |
probably benign |
Het |
| Ino80d |
C |
T |
1: 63,113,583 (GRCm39) |
R289Q |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,809 (GRCm39) |
L161P |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,745 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 19,901,936 (GRCm39) |
S328P |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 20,016,426 (GRCm39) |
V1339D |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,763,281 (GRCm39) |
V444M |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,849,470 (GRCm39) |
I1277V |
probably damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,947,414 (GRCm39) |
R1423W |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,750 (GRCm39) |
E1085G |
probably damaging |
Het |
| Prune1 |
A |
C |
3: 95,172,750 (GRCm39) |
V105G |
probably damaging |
Het |
| Rbpj |
G |
T |
5: 53,810,514 (GRCm39) |
E399* |
probably null |
Het |
| Rp1 |
C |
A |
1: 4,419,931 (GRCm39) |
V394L |
probably benign |
Het |
| S100a4 |
G |
A |
3: 90,513,152 (GRCm39) |
A83T |
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,089,935 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,378,633 (GRCm39) |
E680G |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,696,191 (GRCm39) |
I919N |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,899,093 (GRCm39) |
K478N |
probably damaging |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
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 |
|
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'- TTCTTGGTTCCGAGGCAAACAC -3'
(R):5'- AGGCTTGAATCGCAGGACTC -3'
Sequencing Primer
(F):5'- GTTCCGAGGCAAACACCCATC -3'
(R):5'- CTTCCCAAGGTTCACTAGCTAAATAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation