Incidental Mutation 'R9317:Gmeb1'
| ID |
705908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmeb1
|
| Ensembl Gene |
ENSMUSG00000028901 |
| Gene Name |
glucocorticoid modulatory element binding protein 1 |
| Synonyms |
1110050A04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.718)
|
| Stock # |
R9317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131948336-131988913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131953349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 472
(S472R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030733]
[ENSMUST00000105964]
[ENSMUST00000105965]
[ENSMUST00000168553]
|
| AlphaFold |
Q9JL60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030733
AA Change: S472R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030733
Gene: ENSMUSG00000028901
AA Change: S472R
| 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: S472R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101584
Gene: ENSMUSG00000028901
AA Change: S472R
| 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: S472R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101585
Gene: ENSMUSG00000028901
AA Change: S472R
| 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: ENSMUST00000168553
AA Change: S472R
PolyPhen 2
Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131331
Gene: ENSMUSG00000028901
AA Change: S472R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
C |
8: 120,342,180 (GRCm39) |
L307P |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,868,929 (GRCm39) |
N278D |
probably benign |
Het |
| Cd68 |
C |
T |
11: 69,555,860 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
G |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,309,421 (GRCm39) |
V253A |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,575 (GRCm39) |
F795S |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,889,658 (GRCm39) |
S591T |
probably damaging |
Het |
| Gpr158 |
T |
C |
2: 21,832,037 (GRCm39) |
S1046P |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,745,660 (GRCm39) |
L471P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,350,328 (GRCm39) |
R5075H |
possibly damaging |
Het |
| Hspa5 |
G |
T |
2: 34,666,070 (GRCm39) |
S638I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,307,422 (GRCm39) |
Y355C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,834,045 (GRCm39) |
T2366A |
|
Het |
| Negr1 |
T |
A |
3: 156,904,081 (GRCm39) |
C315S |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,655 (GRCm39) |
M162L |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,583,324 (GRCm39) |
Q110* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,099,034 (GRCm39) |
S1513T |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,731 (GRCm39) |
E274G |
probably damaging |
Het |
| Qrfprl |
A |
C |
6: 65,424,368 (GRCm39) |
I174L |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,986,991 (GRCm39) |
A12V |
unknown |
Het |
| Rpf1 |
A |
G |
3: 146,218,016 (GRCm39) |
V166A |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,802,390 (GRCm39) |
F554C |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,737,279 (GRCm39) |
C65R |
possibly damaging |
Het |
| Sprr2j-ps |
T |
A |
3: 92,326,178 (GRCm39) |
C18S |
unknown |
Het |
| Sult2a6 |
A |
T |
7: 13,970,615 (GRCm39) |
Y160* |
probably null |
Het |
| Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,301,896 (GRCm39) |
K351R |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,275 (GRCm39) |
L419P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,699 (GRCm39) |
K13466E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,447,662 (GRCm39) |
F1846S |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,022 (GRCm39) |
N56K |
probably benign |
Het |
| Wdr12 |
C |
A |
1: 60,128,455 (GRCm39) |
M98I |
probably benign |
Het |
| Zfp953 |
T |
C |
13: 67,491,457 (GRCm39) |
Y165C |
possibly damaging |
Het |
|
| Other mutations in Gmeb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Gmeb1
|
APN |
4 |
131,955,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGCTTTGCCCTCAGTG -3'
(R):5'- CATCACCATTACTCCTGTGGG -3'
Sequencing Primer
(F):5'- TCAGTGTCGTCAGCCTCG -3'
(R):5'- AGTCCTTCTCCATGGGCAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation