Incidental Mutation 'R4455:Egr2'
| ID |
329153 |
| 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 |
| MMRRC Submission |
041715-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4455 (G1)
|
| Quality Score |
217 |
|
Status
|
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: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
| Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
| H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
| Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
| Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
| Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
| Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
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 |
|
|
R4458:Egr2
|
UTSW |
10 |
67,375,733 (GRCm39) |
frame shift |
probably null |
|
|
R4462: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'- TAGAGATCTCCTGTACAGCCCG -3'
Sequencing Primer
(F):5'- CAGCATGCGTGTATGTGAATTAG -3'
(R):5'- GATCTCCTGTACAGCCCGAATAAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation