Incidental Mutation 'IGL01596:Chmp2b'
ID |
91950 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chmp2b
|
Ensembl Gene |
ENSMUSG00000004843 |
Gene Name |
charged multivesicular body protein 2B |
Synonyms |
1190006E07Rik, chromatin modifying protein 2B |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
IGL01596
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
65336014-65359612 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65359363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 11
(D11G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004965]
[ENSMUST00000231259]
|
AlphaFold |
Q8BJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004965
AA Change: D11G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000004965 Gene: ENSMUSG00000004843 AA Change: D11G
Domain | Start | End | E-Value | Type |
Pfam:Snf7
|
16 |
186 |
1e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231259
|
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 a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh7 |
T |
C |
3: 137,932,003 (GRCm39) |
S206P |
probably damaging |
Het |
Arhgef10 |
G |
T |
8: 15,049,468 (GRCm39) |
E869* |
probably null |
Het |
C87436 |
T |
A |
6: 86,423,201 (GRCm39) |
D258E |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,646,365 (GRCm39) |
K1813E |
probably damaging |
Het |
Cd209b |
T |
A |
8: 3,968,744 (GRCm39) |
D304V |
probably damaging |
Het |
Comp |
A |
G |
8: 70,831,285 (GRCm39) |
N384S |
probably damaging |
Het |
Dbnl |
A |
G |
11: 5,748,279 (GRCm39) |
Y336C |
probably damaging |
Het |
Faf2 |
G |
T |
13: 54,769,716 (GRCm39) |
Q21H |
probably null |
Het |
Fam117b |
A |
T |
1: 59,992,130 (GRCm39) |
K260* |
probably null |
Het |
Gramd1b |
A |
G |
9: 40,214,809 (GRCm39) |
L379P |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,856,652 (GRCm39) |
N302D |
probably benign |
Het |
Kcnh6 |
C |
T |
11: 105,917,572 (GRCm39) |
T702I |
probably benign |
Het |
Kdelr2 |
A |
G |
5: 143,398,330 (GRCm39) |
Y59C |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,635,204 (GRCm39) |
Y300H |
probably damaging |
Het |
Or3a1d |
T |
C |
11: 74,238,245 (GRCm39) |
E55G |
possibly damaging |
Het |
Or4e1 |
C |
T |
14: 52,700,822 (GRCm39) |
V215M |
probably damaging |
Het |
Or4k40 |
A |
G |
2: 111,251,237 (GRCm39) |
S20P |
probably benign |
Het |
Pcdh17 |
T |
C |
14: 84,685,632 (GRCm39) |
W700R |
probably damaging |
Het |
Pigq |
T |
G |
17: 26,146,660 (GRCm39) |
H615P |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,806 (GRCm39) |
S1714T |
possibly damaging |
Het |
Polr1b |
G |
T |
2: 128,952,046 (GRCm39) |
R358I |
probably benign |
Het |
Tmprss11a |
C |
A |
5: 86,570,378 (GRCm39) |
V194F |
probably damaging |
Het |
Trhr |
T |
C |
15: 44,092,708 (GRCm39) |
I315T |
probably damaging |
Het |
Ttc38 |
G |
A |
15: 85,720,274 (GRCm39) |
V79M |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,189,845 (GRCm39) |
|
probably benign |
Het |
Vmn2r45 |
T |
C |
7: 8,486,272 (GRCm39) |
T339A |
probably damaging |
Het |
Vps53 |
A |
G |
11: 75,953,863 (GRCm39) |
F501S |
probably damaging |
Het |
|
Other mutations in Chmp2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01807:Chmp2b
|
APN |
16 |
65,337,091 (GRCm39) |
missense |
probably benign |
|
R0256:Chmp2b
|
UTSW |
16 |
65,337,078 (GRCm39) |
missense |
probably benign |
0.18 |
R1688:Chmp2b
|
UTSW |
16 |
65,347,922 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Chmp2b
|
UTSW |
16 |
65,342,213 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2155:Chmp2b
|
UTSW |
16 |
65,343,877 (GRCm39) |
missense |
probably benign |
0.09 |
R4845:Chmp2b
|
UTSW |
16 |
65,347,862 (GRCm39) |
missense |
probably damaging |
0.99 |
R5559:Chmp2b
|
UTSW |
16 |
65,337,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R6333:Chmp2b
|
UTSW |
16 |
65,337,136 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6473:Chmp2b
|
UTSW |
16 |
65,343,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7142:Chmp2b
|
UTSW |
16 |
65,343,794 (GRCm39) |
nonsense |
probably null |
|
R7339:Chmp2b
|
UTSW |
16 |
65,342,232 (GRCm39) |
nonsense |
probably null |
|
R7761:Chmp2b
|
UTSW |
16 |
65,343,745 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8034:Chmp2b
|
UTSW |
16 |
65,343,769 (GRCm39) |
missense |
probably benign |
0.33 |
R8780:Chmp2b
|
UTSW |
16 |
65,359,422 (GRCm39) |
unclassified |
probably benign |
|
R9537:Chmp2b
|
UTSW |
16 |
65,347,932 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2013-12-09 |