Incidental Mutation 'IGL00978:Gmeb2'
| ID |
27021 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmeb2
|
| Ensembl Gene |
ENSMUSG00000038705 |
| Gene Name |
glucocorticoid modulatory element binding protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL00978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180893242-180929828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180900836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 187
(V187E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049032]
[ENSMUST00000130475]
[ENSMUST00000141003]
[ENSMUST00000141110]
|
| AlphaFold |
P58929 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049032
AA Change: V187E
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: V187E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
SAND
|
90 |
163 |
1.66e-42 |
SMART |
|
coiled coil region
|
304 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130475
AA Change: V187E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
AA Change: V187E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
SAND
|
90 |
163 |
1.66e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141003
|
| SMART Domains |
Protein: ENSMUSP00000116854
Gene: ENSMUSG00000038705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
Pfam:SAND
|
81 |
126 |
7.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141110
|
| SMART Domains |
Protein: ENSMUSP00000115853
Gene: ENSMUSG00000038705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
| Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
| Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
| Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
| Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
| Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
| Other mutations in Gmeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02882:Gmeb2
|
APN |
2 |
180,907,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0437:Gmeb2
|
UTSW |
2 |
180,895,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1499:Gmeb2
|
UTSW |
2 |
180,897,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2064:Gmeb2
|
UTSW |
2 |
180,895,763 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2127:Gmeb2
|
UTSW |
2 |
180,900,842 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2517:Gmeb2
|
UTSW |
2 |
180,900,819 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3087:Gmeb2
|
UTSW |
2 |
180,897,433 (GRCm39) |
splice site |
probably benign |
|
|
R4202:Gmeb2
|
UTSW |
2 |
180,895,766 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4470:Gmeb2
|
UTSW |
2 |
180,906,938 (GRCm39) |
splice site |
probably null |
|
|
R4936:Gmeb2
|
UTSW |
2 |
180,896,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5296:Gmeb2
|
UTSW |
2 |
180,897,779 (GRCm39) |
intron |
probably benign |
|
|
R5402:Gmeb2
|
UTSW |
2 |
180,897,750 (GRCm39) |
splice site |
probably null |
|
|
R5708:Gmeb2
|
UTSW |
2 |
180,906,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Gmeb2
|
UTSW |
2 |
180,897,367 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7673:Gmeb2
|
UTSW |
2 |
180,902,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8189:Gmeb2
|
UTSW |
2 |
180,919,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation