Incidental Mutation 'R4202:Gmeb2'
| ID |
318783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmeb2
|
| Ensembl Gene |
ENSMUSG00000038705 |
| Gene Name |
glucocorticoid modulatory element binding protein 2 |
| Synonyms |
|
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180893242-180929828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180895766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 468
(V468A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049032]
[ENSMUST00000130475]
[ENSMUST00000141003]
[ENSMUST00000141110]
|
| AlphaFold |
P58929 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049032
AA Change: V468A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: V468A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
| 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 |
|
| Meta Mutation Damage Score |
0.1157 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Gmeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Gmeb2
|
APN |
2 |
180,900,836 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGCTACTTCTGCTCATG -3'
(R):5'- CCACTGGGCAAAGTAGTATCTAC -3'
Sequencing Primer
(F):5'- GCTCATGGTCCTCTGCTACAG -3'
(R):5'- CTGGGCAAAGTAGTATCTACACTGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation