Incidental Mutation 'R3959:Eed'
| ID |
310837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eed
|
| Ensembl Gene |
ENSMUSG00000030619 |
| Gene Name |
embryonic ectoderm development |
| Synonyms |
l7Rn5, l(7)5Rn |
| MMRRC Submission |
040835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R3959 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
89603862-89630184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89604149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 441
(R441Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107234]
[ENSMUST00000207980]
|
| AlphaFold |
Q921E6 |
| PDB Structure |
Structural basis of EZH2 recognition by EED [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107234
AA Change: R441Q
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102853
Gene: ENSMUSG00000030619
AA Change: R441Q
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
81 |
125 |
1.43e1 |
SMART |
|
WD40
|
131 |
176 |
2.04e2 |
SMART |
|
WD40
|
179 |
219 |
1.3e-7 |
SMART |
|
WD40
|
222 |
264 |
1.61e-3 |
SMART |
|
WD40
|
295 |
332 |
7.1e1 |
SMART |
|
Blast:WD40
|
349 |
390 |
1e-17 |
BLAST |
|
WD40
|
397 |
438 |
4.3e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208245
|
| Meta Mutation Damage Score |
0.0847 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are dwarfed and their coat color is dilute. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 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 |
| Adam26a |
T |
C |
8: 44,022,908 (GRCm39) |
H194R |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,507,585 (GRCm39) |
I2976K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,362,329 (GRCm39) |
H3730R |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,162,305 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,573,120 (GRCm39) |
V944E |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,725 (GRCm39) |
Q225L |
probably benign |
Het |
| Mapk8 |
A |
C |
14: 33,104,210 (GRCm39) |
M402R |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,532,688 (GRCm39) |
Y389C |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,333,345 (GRCm39) |
I147T |
probably benign |
Het |
| Nfatc3 |
C |
T |
8: 106,825,709 (GRCm39) |
R587* |
probably null |
Het |
| Nin |
A |
T |
12: 70,097,526 (GRCm39) |
F516L |
probably damaging |
Het |
| Npm1 |
T |
A |
11: 33,104,012 (GRCm39) |
N272Y |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,590 (GRCm39) |
E787G |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,340 (GRCm39) |
V89I |
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,857,244 (GRCm39) |
E189G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,536,461 (GRCm39) |
|
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,599,964 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,399 (GRCm39) |
I87N |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,887,414 (GRCm39) |
T188I |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,886,589 (GRCm39) |
C1930* |
probably null |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,047,947 (GRCm39) |
M6I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,339 (GRCm39) |
L237I |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,142 (GRCm39) |
Q357P |
probably damaging |
Het |
|
| Other mutations in Eed |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02146:Eed
|
APN |
7 |
89,618,803 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02232:Eed
|
APN |
7 |
89,621,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Eed
|
APN |
7 |
89,621,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0417:Eed
|
UTSW |
7 |
89,620,760 (GRCm39) |
nonsense |
probably null |
|
|
R1018:Eed
|
UTSW |
7 |
89,617,019 (GRCm39) |
splice site |
probably benign |
|
|
R1581:Eed
|
UTSW |
7 |
89,629,676 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4774:Eed
|
UTSW |
7 |
89,613,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Eed
|
UTSW |
7 |
89,621,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5238:Eed
|
UTSW |
7 |
89,626,173 (GRCm39) |
missense |
probably benign |
|
|
R5561:Eed
|
UTSW |
7 |
89,617,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Eed
|
UTSW |
7 |
89,618,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Eed
|
UTSW |
7 |
89,605,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Eed
|
UTSW |
7 |
89,626,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6502:Eed
|
UTSW |
7 |
89,626,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:Eed
|
UTSW |
7 |
89,629,727 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7054:Eed
|
UTSW |
7 |
89,613,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7056:Eed
|
UTSW |
7 |
89,619,564 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7808:Eed
|
UTSW |
7 |
89,605,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7836:Eed
|
UTSW |
7 |
89,630,022 (GRCm39) |
start gained |
probably benign |
|
|
RF029:Eed
|
UTSW |
7 |
89,604,240 (GRCm39) |
missense |
probably benign |
|
|
RF030:Eed
|
UTSW |
7 |
89,604,240 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Eed
|
UTSW |
7 |
89,629,723 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Eed
|
UTSW |
7 |
89,629,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCCACGATTTAAGTTTAGC -3'
(R):5'- TGGATTCTTAATGAAGATAGGCTGG -3'
Sequencing Primer
(F):5'- GAGCCACGATTTAAGTTTAGCTTAGG -3'
(R):5'- GAAGATAGGCTGGTTTTATACTACAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation