Incidental Mutation 'R3734:Edem1'
ID |
269996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edem1
|
Ensembl Gene |
ENSMUSG00000030104 |
Gene Name |
ER degradation enhancer, mannosidase alpha-like 1 |
Synonyms |
A130059K23Rik |
MMRRC Submission |
040721-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R3734 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108818582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 197
(F197L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089162]
[ENSMUST00000204804]
|
AlphaFold |
Q925U4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089162
AA Change: F197L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086565 Gene: ENSMUSG00000030104 AA Change: F197L
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: ENSMUST00000203469
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204804
AA Change: F197L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144901 Gene: ENSMUSG00000030104 AA Change: F197L
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 |
0.6839 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
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 |
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'- CCTTGAGAGAGTGGTAGGACAC -3'
(R):5'- TGCGGACTCTGGTGAAAATACC -3'
Sequencing Primer
(F):5'- TGGTAGGACACAGGCTTGC -3'
(R):5'- GGACTCTGGTGAAAATACCCTCAG -3'
|
Posted On |
2015-03-18 |