Incidental Mutation 'R8146:Mvp'
| ID |
632808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mvp
|
| Ensembl Gene |
ENSMUSG00000030681 |
| Gene Name |
major vault protein |
| Synonyms |
VAULT1, LRP, 2310009M24Rik |
| MMRRC Submission |
067574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126586032-126613766 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 126586171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 866
(P866Q)
|
| 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: P866Q
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681
AA Change: P866Q
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,498,814 (GRCm39) |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,334,270 (GRCm39) |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,347,829 (GRCm39) |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,202 (GRCm39) |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 84,657,618 (GRCm39) |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 (GRCm39) |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,136,396 (GRCm39) |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,797 (GRCm39) |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,076,171 (GRCm39) |
D339E |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,515,871 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,933,727 (GRCm39) |
L617P |
probably damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,170,281 (GRCm39) |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 (GRCm39) |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,472,027 (GRCm39) |
V56A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,546,827 (GRCm39) |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,340,784 (GRCm39) |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,885,176 (GRCm39) |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,862 (GRCm39) |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,178,844 (GRCm39) |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,049,605 (GRCm39) |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,731,027 (GRCm39) |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,289,274 (GRCm39) |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,105 (GRCm39) |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,552,864 (GRCm39) |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,304 (GRCm39) |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,208,298 (GRCm39) |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,608,940 (GRCm39) |
G119R |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,510 (GRCm39) |
I94T |
probably damaging |
Het |
| Phykpl |
T |
C |
11: 51,476,408 (GRCm39) |
Y43H |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,571,364 (GRCm39) |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,361 (GRCm39) |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,279,704 (GRCm39) |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,004,429 (GRCm39) |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,145 (GRCm39) |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,886,018 (GRCm39) |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,789,573 (GRCm39) |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,619,887 (GRCm39) |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,495,401 (GRCm39) |
V368F |
possibly damaging |
Het |
| Tap1 |
A |
T |
17: 34,408,206 (GRCm39) |
D194V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,496 (GRCm39) |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,036,416 (GRCm39) |
I579N |
probably damaging |
Het |
| Zbtb22 |
G |
T |
17: 34,135,956 (GRCm39) |
V34L |
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 |
|
|
R7580:Mvp
|
UTSW |
7 |
126,591,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCACCCAGGCTGGAGATAAGAG -3'
(R):5'- TAGGGAGAGCTGCTCTGAAG -3'
Sequencing Primer
(F):5'- CAGGCTGGAGATAAGAGGGAAAAAG -3'
(R):5'- CAGCTGAGGTAAATGGCCATTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation