Incidental Mutation 'IGL00497:Gmeb1'
| ID |
11040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmeb1
|
| Ensembl Gene |
ENSMUSG00000028901 |
| Gene Name |
glucocorticoid modulatory element binding protein 1 |
| Synonyms |
1110050A04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
IGL00497
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
131948336-131988913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131955296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030733]
[ENSMUST00000105964]
[ENSMUST00000105965]
[ENSMUST00000168553]
|
| AlphaFold |
Q9JL60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030733
AA Change: V293A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
SAND
|
83 |
156 |
8.01e-36 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105964
AA Change: V293A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
SAND
|
83 |
156 |
8.01e-36 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105965
AA Change: V293A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
SAND
|
83 |
156 |
8.01e-36 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168553
AA Change: V293A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
|
SAND
|
83 |
156 |
8.01e-36 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
467 |
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 encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this gene's role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
| Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
| Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
| Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
| Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
| Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
| Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
| Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
| Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
| Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
| Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
| Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
| Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
| Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
probably damaging |
Het |
|
| Other mutations in Gmeb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02089:Gmeb1
|
APN |
4 |
131,953,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Gmeb1
|
UTSW |
4 |
131,959,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0326:Gmeb1
|
UTSW |
4 |
131,969,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0611:Gmeb1
|
UTSW |
4 |
131,953,386 (GRCm39) |
nonsense |
probably null |
|
|
R0898:Gmeb1
|
UTSW |
4 |
131,962,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1317:Gmeb1
|
UTSW |
4 |
131,962,198 (GRCm39) |
nonsense |
probably null |
|
|
R1453:Gmeb1
|
UTSW |
4 |
131,969,759 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1573:Gmeb1
|
UTSW |
4 |
131,979,051 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1751:Gmeb1
|
UTSW |
4 |
131,962,198 (GRCm39) |
nonsense |
probably null |
|
|
R1754:Gmeb1
|
UTSW |
4 |
131,959,338 (GRCm39) |
missense |
probably benign |
|
|
R1761:Gmeb1
|
UTSW |
4 |
131,962,198 (GRCm39) |
nonsense |
probably null |
|
|
R5203:Gmeb1
|
UTSW |
4 |
131,959,320 (GRCm39) |
splice site |
probably null |
|
|
R6241:Gmeb1
|
UTSW |
4 |
131,973,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Gmeb1
|
UTSW |
4 |
131,969,688 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7103:Gmeb1
|
UTSW |
4 |
131,962,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7192:Gmeb1
|
UTSW |
4 |
131,955,201 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7401:Gmeb1
|
UTSW |
4 |
131,953,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7528:Gmeb1
|
UTSW |
4 |
131,959,361 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9055:Gmeb1
|
UTSW |
4 |
131,964,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Gmeb1
|
UTSW |
4 |
131,953,349 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9442:Gmeb1
|
UTSW |
4 |
131,962,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9559:Gmeb1
|
UTSW |
4 |
131,953,140 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9644:Gmeb1
|
UTSW |
4 |
131,959,440 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation