Incidental Mutation 'R8160:Mvb12b'
| ID |
633464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mvb12b
|
| Ensembl Gene |
ENSMUSG00000038740 |
| Gene Name |
multivesicular body subunit 12B |
| Synonyms |
Fam125b, 2610200O14Rik, 2610528K11Rik |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
33619965-33777958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33730234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 81
(D81E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041555]
[ENSMUST00000148660]
|
| AlphaFold |
Q6KAU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041555
AA Change: D81E
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048901
Gene: ENSMUSG00000038740
AA Change: D81E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF2464
|
46 |
297 |
1.7e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148660
AA Change: D52E
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115744
Gene: ENSMUSG00000038740
AA Change: D52E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2464
|
17 |
189 |
1.4e-72 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
| Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
| Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
| Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
| Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
| Rad51b |
T |
A |
12: 79,350,115 (GRCm39) |
L70I |
probably benign |
Het |
| Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
Het |
|
| Other mutations in Mvb12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02429:Mvb12b
|
APN |
2 |
33,717,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Mvb12b
|
APN |
2 |
33,730,221 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1845:Mvb12b
|
UTSW |
2 |
33,730,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2225:Mvb12b
|
UTSW |
2 |
33,730,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4545:Mvb12b
|
UTSW |
2 |
33,717,712 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5631:Mvb12b
|
UTSW |
2 |
33,717,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5733:Mvb12b
|
UTSW |
2 |
33,717,728 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6043:Mvb12b
|
UTSW |
2 |
33,764,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6386:Mvb12b
|
UTSW |
2 |
33,717,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Mvb12b
|
UTSW |
2 |
33,715,128 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Mvb12b
|
UTSW |
2 |
33,764,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTGGCTGCTGATTCTAC -3'
(R):5'- CACACTAATGAGATGCCAGGAG -3'
Sequencing Primer
(F):5'- TCTACCCTGTTCACTGAAACAATAG -3'
(R):5'- CACTAATGAGATGCCAGGAGACTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation