Incidental Mutation 'R2393:Edem1'
ID |
247856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edem1
|
Ensembl Gene |
ENSMUSG00000030104 |
Gene Name |
ER degradation enhancer, mannosidase alpha-like 1 |
Synonyms |
A130059K23Rik |
MMRRC Submission |
040361-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R2393 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 108829504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 541
(M541R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089162]
[ENSMUST00000204804]
|
AlphaFold |
Q925U4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089162
AA Change: M541R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086565 Gene: ENSMUSG00000030104 AA Change: M541R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
low complexity region
|
70 |
92 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
132 |
581 |
1.1e-123 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203302
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204524
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204804
|
SMART Domains |
Protein: ENSMUSP00000144901 Gene: ENSMUSG00000030104
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
low complexity region
|
70 |
92 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
132 |
529 |
9.9e-97 |
PFAM |
|
Meta Mutation Damage Score |
0.9737 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
probably benign |
Het |
|
Other mutations in Edem1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:Edem1
|
APN |
6 |
108,832,520 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL00648:Edem1
|
APN |
6 |
108,828,168 (GRCm39) |
splice site |
probably null |
|
IGL00694:Edem1
|
APN |
6 |
108,818,562 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02231:Edem1
|
APN |
6 |
108,805,849 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02967:Edem1
|
APN |
6 |
108,813,738 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03018:Edem1
|
APN |
6 |
108,806,103 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4468001:Edem1
|
UTSW |
6 |
108,821,828 (GRCm39) |
missense |
probably damaging |
0.98 |
R0050:Edem1
|
UTSW |
6 |
108,805,809 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0367:Edem1
|
UTSW |
6 |
108,823,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R1165:Edem1
|
UTSW |
6 |
108,828,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1354:Edem1
|
UTSW |
6 |
108,831,277 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1385:Edem1
|
UTSW |
6 |
108,823,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Edem1
|
UTSW |
6 |
108,818,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Edem1
|
UTSW |
6 |
108,821,908 (GRCm39) |
missense |
probably benign |
0.03 |
R2060:Edem1
|
UTSW |
6 |
108,831,248 (GRCm39) |
missense |
probably damaging |
0.99 |
R2106:Edem1
|
UTSW |
6 |
108,825,686 (GRCm39) |
missense |
probably damaging |
0.98 |
R2443:Edem1
|
UTSW |
6 |
108,828,230 (GRCm39) |
missense |
probably benign |
0.13 |
R3732:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4754:Edem1
|
UTSW |
6 |
108,818,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Edem1
|
UTSW |
6 |
108,818,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Edem1
|
UTSW |
6 |
108,805,707 (GRCm39) |
unclassified |
probably benign |
|
R5326:Edem1
|
UTSW |
6 |
108,831,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5334:Edem1
|
UTSW |
6 |
108,825,793 (GRCm39) |
critical splice donor site |
probably null |
|
R5501:Edem1
|
UTSW |
6 |
108,820,061 (GRCm39) |
critical splice donor site |
probably null |
|
R5542:Edem1
|
UTSW |
6 |
108,831,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5976:Edem1
|
UTSW |
6 |
108,819,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R6177:Edem1
|
UTSW |
6 |
108,828,159 (GRCm39) |
splice site |
probably null |
|
R6556:Edem1
|
UTSW |
6 |
108,831,318 (GRCm39) |
missense |
probably benign |
0.00 |
R6835:Edem1
|
UTSW |
6 |
108,831,360 (GRCm39) |
missense |
probably benign |
0.00 |
R7192:Edem1
|
UTSW |
6 |
108,805,965 (GRCm39) |
missense |
probably benign |
0.00 |
R7239:Edem1
|
UTSW |
6 |
108,831,341 (GRCm39) |
missense |
probably benign |
|
R7442:Edem1
|
UTSW |
6 |
108,828,266 (GRCm39) |
nonsense |
probably null |
|
R7780:Edem1
|
UTSW |
6 |
108,818,589 (GRCm39) |
missense |
probably benign |
0.00 |
R7902:Edem1
|
UTSW |
6 |
108,831,338 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8103:Edem1
|
UTSW |
6 |
108,829,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8135:Edem1
|
UTSW |
6 |
108,806,022 (GRCm39) |
nonsense |
probably null |
|
R8359:Edem1
|
UTSW |
6 |
108,823,774 (GRCm39) |
missense |
probably benign |
0.41 |
R9250:Edem1
|
UTSW |
6 |
108,805,850 (GRCm39) |
missense |
probably benign |
|
R9766:Edem1
|
UTSW |
6 |
108,823,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACGCAATCCAAGAATGCTTTC -3'
(R):5'- GACAAGGCCTGTAACTCCAG -3'
Sequencing Primer
(F):5'- GCCCTAGCAAAGTTATTTTCATGAGG -3'
(R):5'- TGTAACTCCAGGAACAGACACTGTC -3'
|
Posted On |
2014-11-11 |