Incidental Mutation 'IGL01807:Chmp2b'
ID |
155702 |
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 # |
IGL01807
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
65336014-65359612 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65337091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 189
(T189S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156381
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004965]
[ENSMUST00000231259]
|
AlphaFold |
Q8BJF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004965
AA Change: T193S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000004965 Gene: ENSMUSG00000004843 AA Change: T193S
Domain | Start | End | E-Value | Type |
Pfam:Snf7
|
16 |
186 |
1e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231259
AA Change: T189S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
T |
6: 142,551,640 (GRCm39) |
L1223M |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,330,418 (GRCm39) |
E814G |
possibly damaging |
Het |
Atf1 |
T |
C |
15: 100,149,945 (GRCm39) |
|
probably benign |
Het |
Bco2 |
T |
C |
9: 50,457,158 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,938,032 (GRCm39) |
I2625V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,654,897 (GRCm39) |
S545P |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,258,348 (GRCm39) |
I1173N |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,206,616 (GRCm39) |
E210G |
probably benign |
Het |
Ccl2 |
G |
A |
11: 81,926,513 (GRCm39) |
G9D |
possibly damaging |
Het |
Col4a1 |
A |
T |
8: 11,297,056 (GRCm39) |
|
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,643,891 (GRCm39) |
S236P |
probably damaging |
Het |
Epha8 |
A |
G |
4: 136,658,993 (GRCm39) |
V887A |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,533,856 (GRCm39) |
M36V |
probably benign |
Het |
Fbxo15 |
T |
A |
18: 84,999,506 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,494,976 (GRCm39) |
I423V |
possibly damaging |
Het |
Ngly1 |
C |
T |
14: 16,290,873 (GRCm38) |
L452F |
probably benign |
Het |
Or52u1 |
T |
A |
7: 104,237,091 (GRCm39) |
W27R |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,939,936 (GRCm39) |
T166A |
possibly damaging |
Het |
Pak2 |
T |
C |
16: 31,856,097 (GRCm39) |
K247E |
probably damaging |
Het |
Pola2 |
A |
G |
19: 6,003,187 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
C |
T |
6: 5,158,248 (GRCm39) |
Q1219* |
probably null |
Het |
Rasgrf1 |
T |
C |
9: 89,873,566 (GRCm39) |
I625T |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,613,189 (GRCm39) |
T120A |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,134,288 (GRCm39) |
Y252C |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smc1b |
T |
A |
15: 84,980,946 (GRCm39) |
D774V |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,270,270 (GRCm39) |
R838Q |
probably damaging |
Het |
Ulk4 |
A |
G |
9: 121,084,251 (GRCm39) |
S105P |
probably damaging |
Het |
Vwa3a |
G |
A |
7: 120,374,729 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
G |
2: 67,345,375 (GRCm39) |
T2539A |
probably benign |
Het |
Zfpm2 |
T |
C |
15: 40,616,452 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Chmp2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01596:Chmp2b
|
APN |
16 |
65,359,363 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2014-02-04 |