Incidental Mutation 'R7693:Epm2aip1'
| ID |
593504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epm2aip1
|
| Ensembl Gene |
ENSMUSG00000046785 |
| Gene Name |
EPM2A interacting protein 1 |
| Synonyms |
A930003G21Rik, EPM2A (laforin) interacting protein 1 |
| MMRRC Submission |
045708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R7693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
111100997-111108161 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111101443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 139
(G139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035079]
[ENSMUST00000060711]
[ENSMUST00000135218]
[ENSMUST00000135807]
|
| AlphaFold |
Q8VEH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035079
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
23 |
158 |
4.57e-1 |
SMART |
|
DNA_mis_repair
|
216 |
335 |
1.08e-44 |
SMART |
|
low complexity region
|
363 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
454 |
N/A |
INTRINSIC |
|
Pfam:Mlh1_C
|
504 |
760 |
8.3e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060711
AA Change: G139S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135807
AA Change: G139S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased anxiety-related response, decreased liver glycogen storage and synthesis, hepatic steatosis, improved glucose tolerance and decreased hepatic insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
| Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
| Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
| Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
| Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
| Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
| Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
| Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
| Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
| Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
Het |
|
| Other mutations in Epm2aip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Epm2aip1
|
APN |
9 |
111,101,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01309:Epm2aip1
|
APN |
9 |
111,102,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02815:Epm2aip1
|
APN |
9 |
111,102,628 (GRCm39) |
missense |
probably benign |
|
|
Lafora
|
UTSW |
9 |
111,101,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1citation:Epm2aip1
|
UTSW |
9 |
111,101,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Epm2aip1
|
UTSW |
9 |
111,101,531 (GRCm39) |
missense |
probably benign |
|
|
R0066:Epm2aip1
|
UTSW |
9 |
111,101,531 (GRCm39) |
missense |
probably benign |
|
|
R0548:Epm2aip1
|
UTSW |
9 |
111,102,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0854:Epm2aip1
|
UTSW |
9 |
111,101,567 (GRCm39) |
nonsense |
probably null |
|
|
R1497:Epm2aip1
|
UTSW |
9 |
111,101,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4012:Epm2aip1
|
UTSW |
9 |
111,101,458 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4722:Epm2aip1
|
UTSW |
9 |
111,101,152 (GRCm39) |
small deletion |
probably benign |
|
|
R4741:Epm2aip1
|
UTSW |
9 |
111,101,681 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4834:Epm2aip1
|
UTSW |
9 |
111,102,262 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5037:Epm2aip1
|
UTSW |
9 |
111,101,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5045:Epm2aip1
|
UTSW |
9 |
111,102,427 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5174:Epm2aip1
|
UTSW |
9 |
111,102,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Epm2aip1
|
UTSW |
9 |
111,101,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Epm2aip1
|
UTSW |
9 |
111,101,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7472:Epm2aip1
|
UTSW |
9 |
111,101,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Epm2aip1
|
UTSW |
9 |
111,101,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Epm2aip1
|
UTSW |
9 |
111,101,036 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9566:Epm2aip1
|
UTSW |
9 |
111,101,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Epm2aip1
|
UTSW |
9 |
111,102,137 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTGACATGTCTTTGGC -3'
(R):5'- AGTCAGGTTGATAATCGTCAGAAG -3'
Sequencing Primer
(F):5'- ACATGTCTTTGGCCGCCG -3'
(R):5'- AGAAGATCTTCTTGCACCTCCAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation