Incidental Mutation 'IGL01503:Mvp'
| ID |
88969 |
| 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)
|
| Stock # |
IGL01503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126586032-126613766 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 126601133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133172]
[ENSMUST00000165096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133172
|
| SMART Domains |
Protein: ENSMUSP00000119213
Gene: ENSMUSG00000030681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vault
|
25 |
64 |
3.3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165096
|
| SMART Domains |
Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
T |
A |
16: 88,971,757 (GRCm39) |
Y26* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,401,137 (GRCm39) |
I116F |
probably damaging |
Het |
| Arpc1a |
T |
C |
5: 145,032,964 (GRCm39) |
V91A |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,750 (GRCm39) |
I687F |
probably damaging |
Het |
| B3gnt5 |
A |
C |
16: 19,588,531 (GRCm39) |
Y250S |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,612 (GRCm39) |
D527G |
probably damaging |
Het |
| Chrna5 |
T |
A |
9: 54,905,455 (GRCm39) |
|
probably benign |
Het |
| Cltc |
C |
A |
11: 86,586,526 (GRCm39) |
|
probably benign |
Het |
| Dgkh |
T |
G |
14: 78,853,710 (GRCm39) |
I439L |
possibly damaging |
Het |
| Dnajc16 |
G |
A |
4: 141,491,008 (GRCm39) |
T714I |
possibly damaging |
Het |
| Fam13a |
A |
T |
6: 58,933,065 (GRCm39) |
I349N |
probably damaging |
Het |
| Fig4 |
C |
T |
10: 41,132,514 (GRCm39) |
D431N |
probably benign |
Het |
| Gabra4 |
A |
T |
5: 71,798,429 (GRCm39) |
N183K |
possibly damaging |
Het |
| Ggt5 |
C |
T |
10: 75,445,944 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,798,418 (GRCm39) |
L798P |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,456,714 (GRCm39) |
V2030A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,866,120 (GRCm39) |
Y1514H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,480,823 (GRCm39) |
D4451G |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,167 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,217,695 (GRCm39) |
|
probably benign |
Het |
| Mapkapk2 |
T |
C |
1: 130,986,499 (GRCm39) |
M1V |
probably null |
Het |
| Mical3 |
A |
T |
6: 120,935,537 (GRCm39) |
I1663N |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,170,324 (GRCm39) |
I485V |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,960,890 (GRCm39) |
C520* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,836,689 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
G |
A |
11: 6,305,069 (GRCm39) |
V925M |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,151,143 (GRCm39) |
|
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,942,279 (GRCm39) |
*293W |
probably null |
Het |
| Pole |
T |
A |
5: 110,451,750 (GRCm39) |
I864K |
probably damaging |
Het |
| Rexo4 |
A |
T |
2: 26,850,645 (GRCm39) |
I239N |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,152,687 (GRCm39) |
I748F |
probably damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,584,165 (GRCm39) |
R841* |
probably null |
Het |
| Sh3bp5l |
A |
G |
11: 58,228,827 (GRCm39) |
N100S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,511,623 (GRCm39) |
D211V |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,776,477 (GRCm39) |
|
probably benign |
Het |
| Tshr |
A |
G |
12: 91,478,708 (GRCm39) |
Y83C |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,204,373 (GRCm39) |
E172G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,276,413 (GRCm39) |
S508P |
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 |
|
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 |
2013-12-03 |
Incidental Mutation