Incidental Mutation 'IGL02175:Egr1'
| ID |
283066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Egr1
|
| Ensembl Gene |
ENSMUSG00000038418 |
| Gene Name |
early growth response 1 |
| Synonyms |
Zfp-6, A530045N19Rik, NGFIA, TIS8, Egr-1, Zif268, Zenk, Krox24, NGF1-A, Krox-24, NGFI-A, Krox-1, ETR103 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.856)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34994260-34998009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34996108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 297
(S297P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064795]
[ENSMUST00000165033]
|
| AlphaFold |
P08046 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064795
AA Change: S297P
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069616
Gene: ENSMUSG00000038418
AA Change: S297P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
81 |
N/A |
INTRINSIC |
|
Pfam:DUF3446
|
132 |
217 |
8.9e-28 |
PFAM |
|
ZnF_C2H2
|
336 |
360 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
1.36e-2 |
SMART |
|
Pfam:DUF3432
|
426 |
520 |
4.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165033
AA Change: S297P
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126931
Gene: ENSMUSG00000038418
AA Change: S297P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
81 |
N/A |
INTRINSIC |
|
Pfam:DUF3446
|
132 |
217 |
1.4e-30 |
PFAM |
|
ZnF_C2H2
|
336 |
360 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
366 |
388 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
1.36e-2 |
SMART |
|
Pfam:DUF3432
|
424 |
520 |
2.5e-32 |
PFAM |
|
| Coding Region Coverage |
|
| 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 belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted mutations are small and infertile due to pituitary defects. Mutants exhibit reductions in somatotropes and growth hormone content, and a lack of luteinizing hormone-beta expression. Ovaries lack luteinizing hormone receptors. Memory defects are also seen. [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 |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
Het |
|
| Other mutations in Egr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Egr1
|
APN |
18 |
34,995,547 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02247:Egr1
|
APN |
18 |
34,995,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4651001:Egr1
|
UTSW |
18 |
34,996,240 (GRCm39) |
nonsense |
probably null |
|
|
R0362:Egr1
|
UTSW |
18 |
34,996,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1998:Egr1
|
UTSW |
18 |
34,994,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5010:Egr1
|
UTSW |
18 |
34,996,711 (GRCm39) |
missense |
probably benign |
|
|
R7762:Egr1
|
UTSW |
18 |
34,996,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8318:Egr1
|
UTSW |
18 |
34,996,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9701:Egr1
|
UTSW |
18 |
34,995,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9802:Egr1
|
UTSW |
18 |
34,995,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Egr1
|
UTSW |
18 |
34,996,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation