Incidental Mutation 'IGL00596:Epm2a'
ID |
4770 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Epm2a
|
Ensembl Gene |
ENSMUSG00000055493 |
Gene Name |
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha |
Synonyms |
laforin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
IGL00596
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
11219148-11335388 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 11324384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069106]
|
AlphaFold |
Q9WUA5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069106
|
SMART Domains |
Protein: ENSMUSP00000066050 Gene: ENSMUSG00000055493
Domain | Start | End | E-Value | Type |
CBM_2
|
4 |
115 |
4.89e-14 |
SMART |
Pfam:DSPc
|
163 |
314 |
1.9e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161438
|
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 dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora disease. [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 |
A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
Cc2d1b |
T |
C |
4: 108,484,503 (GRCm39) |
I446T |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
Dym |
T |
A |
18: 75,252,320 (GRCm39) |
V362D |
probably benign |
Het |
Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
Iars2 |
A |
G |
1: 185,048,151 (GRCm39) |
V527A |
probably benign |
Het |
Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
Krt6a |
T |
A |
15: 101,602,665 (GRCm39) |
I7F |
possibly damaging |
Het |
Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
Pomgnt2 |
A |
T |
9: 121,812,191 (GRCm39) |
W197R |
probably benign |
Het |
Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Epm2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01925:Epm2a
|
APN |
10 |
11,324,502 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02612:Epm2a
|
APN |
10 |
11,332,980 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03052:Epm2a
|
UTSW |
10 |
11,332,974 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1432:Epm2a
|
UTSW |
10 |
11,266,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R1716:Epm2a
|
UTSW |
10 |
11,324,580 (GRCm39) |
missense |
probably benign |
0.31 |
R1785:Epm2a
|
UTSW |
10 |
11,219,426 (GRCm39) |
missense |
probably benign |
|
R2132:Epm2a
|
UTSW |
10 |
11,219,426 (GRCm39) |
missense |
probably benign |
|
R2133:Epm2a
|
UTSW |
10 |
11,219,426 (GRCm39) |
missense |
probably benign |
|
R3715:Epm2a
|
UTSW |
10 |
11,219,420 (GRCm39) |
missense |
probably benign |
0.01 |
R4794:Epm2a
|
UTSW |
10 |
11,266,597 (GRCm39) |
missense |
probably benign |
0.01 |
R5222:Epm2a
|
UTSW |
10 |
11,324,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R5254:Epm2a
|
UTSW |
10 |
11,333,089 (GRCm39) |
missense |
probably benign |
0.00 |
R6608:Epm2a
|
UTSW |
10 |
11,266,731 (GRCm39) |
critical splice donor site |
probably null |
|
R6941:Epm2a
|
UTSW |
10 |
11,266,829 (GRCm39) |
splice site |
probably null |
|
R7211:Epm2a
|
UTSW |
10 |
11,219,419 (GRCm39) |
missense |
probably benign |
0.00 |
R7440:Epm2a
|
UTSW |
10 |
11,266,619 (GRCm39) |
nonsense |
probably null |
|
R7740:Epm2a
|
UTSW |
10 |
11,266,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9447:Epm2a
|
UTSW |
10 |
11,324,432 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Posted On |
2012-04-20 |