Incidental Mutation 'R7773:Edem3'
ID |
598683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edem3
|
Ensembl Gene |
ENSMUSG00000043019 |
Gene Name |
ER degradation enhancer, mannosidase alpha-like 3 |
Synonyms |
2310050N11Rik |
MMRRC Submission |
045829-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.296)
|
Stock # |
R7773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 151687347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 762
(K762*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
AlphaFold |
Q2HXL6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059498
AA Change: K762*
|
SMART Domains |
Protein: ENSMUSP00000058941 Gene: ENSMUSG00000043019 AA Change: K762*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
60 |
499 |
3.5e-118 |
PFAM |
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
Pfam:PA
|
672 |
778 |
9.4e-16 |
PFAM |
low complexity region
|
838 |
855 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187951
AA Change: K744*
|
SMART Domains |
Protein: ENSMUSP00000140775 Gene: ENSMUSG00000043019 AA Change: K744*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
60 |
499 |
1.8e-147 |
PFAM |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
Pfam:PA
|
658 |
762 |
1.6e-17 |
PFAM |
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188145
AA Change: K762*
|
SMART Domains |
Protein: ENSMUSP00000140443 Gene: ENSMUSG00000043019 AA Change: K762*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
60 |
499 |
3.3e-144 |
PFAM |
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
Pfam:PA
|
676 |
780 |
4.3e-15 |
PFAM |
low complexity region
|
854 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191070
AA Change: K743*
|
SMART Domains |
Protein: ENSMUSP00000140234 Gene: ENSMUSG00000043019 AA Change: K743*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
60 |
499 |
3e-144 |
PFAM |
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
Pfam:PA
|
657 |
761 |
4.1e-15 |
PFAM |
low complexity region
|
824 |
841 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
G |
T |
5: 122,247,335 (GRCm39) |
N503K |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,139,504 (GRCm39) |
N928S |
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,664 (GRCm39) |
S793F |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,562 (GRCm39) |
H713L |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
probably damaging |
Het |
|
Other mutations in Edem3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Edem3
|
APN |
1 |
151,694,264 (GRCm39) |
missense |
probably benign |
|
IGL01065:Edem3
|
APN |
1 |
151,653,302 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01351:Edem3
|
APN |
1 |
151,668,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01451:Edem3
|
APN |
1 |
151,694,379 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01831:Edem3
|
APN |
1 |
151,671,833 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02096:Edem3
|
APN |
1 |
151,680,470 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02207:Edem3
|
APN |
1 |
151,684,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02507:Edem3
|
APN |
1 |
151,687,407 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02690:Edem3
|
APN |
1 |
151,680,550 (GRCm39) |
missense |
probably damaging |
1.00 |
Abel
|
UTSW |
1 |
151,687,270 (GRCm39) |
missense |
probably damaging |
1.00 |
adam
|
UTSW |
1 |
151,687,347 (GRCm39) |
nonsense |
probably null |
|
eve
|
UTSW |
1 |
151,688,365 (GRCm39) |
splice site |
probably null |
|
R0421:Edem3
|
UTSW |
1 |
151,668,189 (GRCm39) |
splice site |
probably benign |
|
R1463:Edem3
|
UTSW |
1 |
151,683,261 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1934:Edem3
|
UTSW |
1 |
151,680,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Edem3
|
UTSW |
1 |
151,680,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R2090:Edem3
|
UTSW |
1 |
151,680,577 (GRCm39) |
splice site |
probably benign |
|
R2126:Edem3
|
UTSW |
1 |
151,670,482 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2191:Edem3
|
UTSW |
1 |
151,672,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Edem3
|
UTSW |
1 |
151,680,453 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4005:Edem3
|
UTSW |
1 |
151,635,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R4018:Edem3
|
UTSW |
1 |
151,680,577 (GRCm39) |
splice site |
probably benign |
|
R4723:Edem3
|
UTSW |
1 |
151,680,449 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4818:Edem3
|
UTSW |
1 |
151,668,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4871:Edem3
|
UTSW |
1 |
151,679,982 (GRCm39) |
splice site |
probably null |
|
R5205:Edem3
|
UTSW |
1 |
151,687,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5347:Edem3
|
UTSW |
1 |
151,683,202 (GRCm39) |
missense |
probably damaging |
0.97 |
R5910:Edem3
|
UTSW |
1 |
151,646,578 (GRCm39) |
splice site |
probably null |
|
R7021:Edem3
|
UTSW |
1 |
151,631,423 (GRCm39) |
missense |
probably benign |
0.01 |
R7366:Edem3
|
UTSW |
1 |
151,688,365 (GRCm39) |
splice site |
probably null |
|
R7481:Edem3
|
UTSW |
1 |
151,683,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7481:Edem3
|
UTSW |
1 |
151,683,973 (GRCm39) |
missense |
probably damaging |
0.98 |
R7734:Edem3
|
UTSW |
1 |
151,694,336 (GRCm39) |
missense |
probably benign |
0.00 |
R7828:Edem3
|
UTSW |
1 |
151,687,386 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8556:Edem3
|
UTSW |
1 |
151,660,586 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8559:Edem3
|
UTSW |
1 |
151,694,169 (GRCm39) |
missense |
probably benign |
0.27 |
R8724:Edem3
|
UTSW |
1 |
151,651,624 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9193:Edem3
|
UTSW |
1 |
151,694,270 (GRCm39) |
missense |
probably benign |
0.00 |
R9201:Edem3
|
UTSW |
1 |
151,694,324 (GRCm39) |
missense |
probably benign |
|
X0028:Edem3
|
UTSW |
1 |
151,694,313 (GRCm39) |
missense |
probably benign |
0.24 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTCTAGAAAACTTCTTTTGCTG -3'
(R):5'- ATTGTTCCTTGCTTTACCAGTGAAC -3'
Sequencing Primer
(F):5'- GCTGCTTTCAATTATTTCCTTGGG -3'
(R):5'- CCTTGCTTTACCAGTGAACTAAAAG -3'
|
Posted On |
2019-11-26 |