Incidental Mutation 'R6514:Egr3'
| ID |
520538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egr3
|
| Ensembl Gene |
ENSMUSG00000033730 |
| Gene Name |
early growth response 3 |
| Synonyms |
Pilot |
| MMRRC Submission |
044641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R6514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70314766-70320062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70316366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 59
(L59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035908]
[ENSMUST00000225200]
|
| AlphaFold |
P43300 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035908
AA Change: L21P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037042
Gene: ENSMUSG00000033730
AA Change: L21P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
87 |
156 |
3.6e-13 |
PFAM |
|
ZnF_C2H2
|
275 |
299 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
1.45e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223809
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225200
AA Change: L59P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
95% (35/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mutants exhibit partial postnatal lethality, sensory ataxia, resting tremors, blepharoptosis, scoliosis, muscle spindle agenesis, loss of myelinated proprioceptive neurons, and a defect in the strength of sensory-motor connections. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
G |
A |
11: 50,833,569 (GRCm39) |
A11V |
unknown |
Het |
| Add1 |
T |
A |
5: 34,763,317 (GRCm39) |
H168Q |
probably damaging |
Het |
| Apol7b |
C |
T |
15: 77,308,126 (GRCm39) |
R123Q |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,037,309 (GRCm39) |
E155G |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,066,511 (GRCm39) |
D108E |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,637,165 (GRCm39) |
E1014G |
probably damaging |
Het |
| Crybg1 |
A |
T |
10: 43,873,211 (GRCm39) |
L1299H |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,194 (GRCm39) |
S184P |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,440 (GRCm39) |
H65R |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,190,996 (GRCm39) |
D724E |
probably null |
Het |
| Erbb2 |
A |
G |
11: 98,310,972 (GRCm39) |
D44G |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,442,697 (GRCm39) |
I739V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,879 (GRCm39) |
F665L |
probably benign |
Het |
| Gm10801 |
T |
A |
2: 98,494,214 (GRCm39) |
W119R |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,859,839 (GRCm39) |
E277D |
probably damaging |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,740 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Irf1 |
C |
G |
11: 53,662,148 (GRCm39) |
L12V |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Ly6g |
C |
T |
15: 75,028,581 (GRCm39) |
P14S |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,363,064 (GRCm39) |
|
probably null |
Het |
| Mme |
T |
A |
3: 63,272,265 (GRCm39) |
C621* |
probably null |
Het |
| Mmp16 |
T |
C |
4: 18,116,123 (GRCm39) |
C576R |
probably damaging |
Het |
| Ngp |
A |
T |
9: 110,249,017 (GRCm39) |
I30F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,794,930 (GRCm39) |
I175N |
probably damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,762 (GRCm39) |
T166I |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
A |
2: 135,796,916 (GRCm39) |
H440Q |
probably benign |
Het |
| Ppl |
A |
G |
16: 4,905,181 (GRCm39) |
S1705P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,746,266 (GRCm39) |
F3831S |
probably damaging |
Het |
| Serpine2 |
A |
C |
1: 79,799,287 (GRCm39) |
|
probably null |
Het |
| Skor2 |
T |
A |
18: 76,950,389 (GRCm39) |
W906R |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,262,238 (GRCm39) |
D336V |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,634,660 (GRCm39) |
F832L |
probably damaging |
Het |
|
| Other mutations in Egr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Egr3
|
APN |
14 |
70,316,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Egr3
|
UTSW |
14 |
70,316,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Egr3
|
UTSW |
14 |
70,317,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Egr3
|
UTSW |
14 |
70,315,024 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5911:Egr3
|
UTSW |
14 |
70,316,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7674:Egr3
|
UTSW |
14 |
70,315,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7887:Egr3
|
UTSW |
14 |
70,316,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Egr3
|
UTSW |
14 |
70,316,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9363:Egr3
|
UTSW |
14 |
70,316,761 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9514:Egr3
|
UTSW |
14 |
70,314,978 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGATCCGTAGTATTTTGCTG -3'
(R):5'- ATACATGGCCTCCACGTCTC -3'
Sequencing Primer
(F):5'- ATCCGTAGTATTTTGCTGTATCCAG -3'
(R):5'- AGGAGGCTGCACCATGCTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation