Incidental Mutation 'R7902:Edem1'
| ID |
610037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem1
|
| Ensembl Gene |
ENSMUSG00000030104 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 1 |
| Synonyms |
A130059K23Rik |
| MMRRC Submission |
045954-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R7902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108831338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 600
(R600W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089162]
[ENSMUST00000204804]
|
| AlphaFold |
Q925U4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089162
AA Change: R600W
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: R600W
| 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 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamts14 |
T |
C |
10: 61,041,176 (GRCm39) |
S842G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,562,654 (GRCm39) |
I1108T |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,548,863 (GRCm39) |
M2161L |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,364,832 (GRCm39) |
I1647T |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,350,156 (GRCm39) |
C41* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,439,964 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
C |
A |
13: 37,172,913 (GRCm39) |
G156W |
probably damaging |
Het |
| Foxk2 |
A |
G |
11: 121,190,553 (GRCm39) |
T565A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,168 (GRCm39) |
I1496F |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,690,197 (GRCm39) |
|
probably null |
Het |
| Gapdhs |
T |
C |
7: 30,436,146 (GRCm39) |
Y148C |
probably damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,505 (GRCm39) |
I81T |
probably damaging |
Het |
| Hddc2 |
A |
T |
10: 31,192,289 (GRCm39) |
R64S |
probably damaging |
Het |
| Hddc2 |
T |
A |
10: 31,196,338 (GRCm39) |
|
probably null |
Het |
| Klk10 |
T |
A |
7: 43,432,942 (GRCm39) |
S113T |
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,159,843 (GRCm39) |
S52P |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,466,615 (GRCm39) |
T763A |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,482 (GRCm39) |
I363N |
possibly damaging |
Het |
| Oat |
C |
T |
7: 132,161,393 (GRCm39) |
V381I |
probably benign |
Het |
| Or52n2c |
A |
G |
7: 104,574,557 (GRCm39) |
L138P |
probably damaging |
Het |
| Plpp2 |
A |
T |
10: 79,363,378 (GRCm39) |
I207N |
possibly damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,679 (GRCm39) |
E522G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,441,628 (GRCm39) |
V63A |
probably benign |
Het |
| Sgf29 |
C |
T |
7: 126,271,350 (GRCm39) |
R209C |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,086,048 (GRCm39) |
A1220V |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,902 (GRCm39) |
E1055G |
|
Het |
| Vmn1r158 |
A |
T |
7: 22,489,433 (GRCm39) |
C259S |
possibly damaging |
Het |
| Vmn2r120 |
T |
G |
17: 57,816,244 (GRCm39) |
I704L |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,329,731 (GRCm39) |
S1188G |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,535 (GRCm39) |
K653E |
probably damaging |
Het |
| Zfp933 |
T |
A |
4: 147,911,058 (GRCm39) |
R179S |
probably damaging |
Het |
| Zfp937 |
A |
T |
2: 150,080,681 (GRCm39) |
H237L |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- AGGACTTAGTAGAGCTGTATGCCAG -3'
(R):5'- ATGTGCCTATACTGCTGCTC -3'
Sequencing Primer
(F):5'- TTCATGCAGTGGCTAGCCTAGAAC -3'
(R):5'- CATCCTAGTGGCACTTTGTAAATGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation