Incidental Mutation 'R8135:Edem1'
ID |
632218 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edem1
|
Ensembl Gene |
ENSMUSG00000030104 |
Gene Name |
ER degradation enhancer, mannosidase alpha-like 1 |
Synonyms |
A130059K23Rik |
MMRRC Submission |
067563-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R8135 (G1)
|
Quality Score |
99.0078 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 108806022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 108
(E108*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032196]
[ENSMUST00000089162]
[ENSMUST00000204804]
|
AlphaFold |
Q925U4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032196
|
SMART Domains |
Protein: ENSMUSP00000032196 Gene: ENSMUSG00000030105
Domain | Start | End | E-Value | Type |
ARF
|
1 |
185 |
4.46e-35 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089162
AA Change: E108*
|
SMART Domains |
Protein: ENSMUSP00000086565 Gene: ENSMUSG00000030104 AA Change: E108*
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 |
probably null
Transcript: ENSMUST00000204804
AA Change: E108*
|
SMART Domains |
Protein: ENSMUSP00000144901 Gene: ENSMUSG00000030104 AA Change: E108*
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
Csf2rb |
T |
A |
15: 78,232,319 (GRCm39) |
I542K |
possibly damaging |
Het |
Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
Dph7 |
T |
C |
2: 24,859,556 (GRCm39) |
I271T |
probably benign |
Het |
Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,542,872 (GRCm39) |
I211V |
probably benign |
Het |
H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
Nipal2 |
A |
T |
15: 34,678,719 (GRCm39) |
Y41N |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
Set |
T |
A |
2: 29,959,439 (GRCm39) |
D137E |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
probably damaging |
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 |
R2393:Edem1
|
UTSW |
6 |
108,829,504 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GCTTCAAAATAATGCCCGCG -3'
(R):5'- AAGACCCTGGTGTGTTCTCAG -3'
Sequencing Primer
(F):5'- ATGCAATGGCGAGCGCTTG -3'
(R):5'- TGTGTTCTCAGGGACCCG -3'
|
Posted On |
2020-06-30 |