Incidental Mutation 'R4462:Egr2'
| ID |
330191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egr2
|
| Ensembl Gene |
ENSMUSG00000037868 |
| Gene Name |
early growth response 2 |
| Synonyms |
Krox-20, Krox20, NGF1-B, Zfp-25, Egr-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4462 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
67371305-67378018 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GAA to GA
at 67375733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048289]
[ENSMUST00000075686]
[ENSMUST00000105438]
[ENSMUST00000127820]
[ENSMUST00000130933]
[ENSMUST00000145754]
[ENSMUST00000145936]
[ENSMUST00000146986]
|
| AlphaFold |
P08152 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048289
AA Change: 110
|
| SMART Domains |
Protein: ENSMUSP00000041053
Gene: ENSMUSG00000037868
AA Change: 110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
94 |
184 |
2.5e-26 |
PFAM |
|
low complexity region
|
190 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
321 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
337 |
361 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.45e-2 |
SMART |
|
low complexity region
|
425 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075686
|
| SMART Domains |
Protein: ENSMUSP00000075107
Gene: ENSMUSG00000057134
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1637
|
45 |
254 |
2.7e-68 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105438
|
| SMART Domains |
Protein: ENSMUSP00000101078
Gene: ENSMUSG00000037868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
44 |
134 |
1.3e-27 |
PFAM |
|
low complexity region
|
140 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
271 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
287 |
311 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.45e-2 |
SMART |
|
low complexity region
|
375 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127820
|
| SMART Domains |
Protein: ENSMUSP00000116799
Gene: ENSMUSG00000037868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
36 |
126 |
1.3e-27 |
PFAM |
|
low complexity region
|
132 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
279 |
303 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
1.45e-2 |
SMART |
|
low complexity region
|
367 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130933
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145754
|
| SMART Domains |
Protein: ENSMUSP00000116621
Gene: ENSMUSG00000037868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
107 |
197 |
4.4e-28 |
PFAM |
|
low complexity region
|
203 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145936
|
| SMART Domains |
Protein: ENSMUSP00000115709
Gene: ENSMUSG00000037868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
107 |
197 |
3.7e-29 |
PFAM |
|
low complexity region
|
203 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146986
|
| SMART Domains |
Protein: ENSMUSP00000118941
Gene: ENSMUSG00000037868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3446
|
44 |
72 |
7.5e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
T |
6: 55,457,084 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,836,357 (GRCm39) |
A705V |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,893,278 (GRCm39) |
V975E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Btnl6 |
A |
G |
17: 34,727,031 (GRCm39) |
S500P |
probably damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,368,876 (GRCm39) |
V34A |
probably damaging |
Het |
| Defa17 |
A |
G |
8: 22,146,553 (GRCm39) |
R60G |
probably benign |
Het |
| Fuca2 |
T |
C |
10: 13,378,979 (GRCm39) |
V41A |
probably damaging |
Het |
| Ggt6 |
C |
A |
11: 72,328,654 (GRCm39) |
H385N |
possibly damaging |
Het |
| Hgsnat |
G |
A |
8: 26,444,664 (GRCm39) |
T428I |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,015 (GRCm39) |
S535P |
probably damaging |
Het |
| Or2y6 |
T |
A |
11: 52,104,801 (GRCm39) |
N5I |
probably damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,360 (GRCm39) |
F106I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,445,200 (GRCm39) |
F3691L |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,637,229 (GRCm39) |
D282G |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,167,421 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,213 (GRCm39) |
T187A |
probably benign |
Het |
| Slco3a1 |
A |
C |
7: 74,204,311 (GRCm39) |
S10A |
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,435 (GRCm39) |
Y458C |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,145,813 (GRCm39) |
M1537V |
possibly damaging |
Het |
|
| Other mutations in Egr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01921:Egr2
|
APN |
10 |
67,376,208 (GRCm39) |
splice site |
probably null |
|
|
IGL01933:Egr2
|
APN |
10 |
67,376,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02093:Egr2
|
APN |
10 |
67,375,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Puyol
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R0045:Egr2
|
UTSW |
10 |
67,376,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1572:Egr2
|
UTSW |
10 |
67,375,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Egr2
|
UTSW |
10 |
67,375,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2139:Egr2
|
UTSW |
10 |
67,376,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3012:Egr2
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R4454:Egr2
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R4455:Egr2
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R4458:Egr2
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R4903:Egr2
|
UTSW |
10 |
67,374,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Egr2
|
UTSW |
10 |
67,375,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5566:Egr2
|
UTSW |
10 |
67,376,596 (GRCm39) |
nonsense |
probably null |
|
|
R8462:Egr2
|
UTSW |
10 |
67,374,173 (GRCm39) |
missense |
probably null |
0.99 |
|
R9435:Egr2
|
UTSW |
10 |
67,375,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCAGCATGCGTGTATGTG -3'
(R):5'- AGAGATCTCCTGTACAGCCC -3'
Sequencing Primer
(F):5'- CAGCATGCGTGTATGTGAATTAG -3'
(R):5'- GATCTCCTGTACAGCCCGAATAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation