Incidental Mutation 'IGL00924:Brd1'
| ID |
29062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brd1
|
| Ensembl Gene |
ENSMUSG00000022387 |
| Gene Name |
bromodomain containing 1 |
| Synonyms |
1110059H06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
88571237-88618436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88613612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 428
(K428E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088911]
[ENSMUST00000109380]
[ENSMUST00000109381]
|
| AlphaFold |
G5E8P1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000088911
|
| SMART Domains |
Protein: ENSMUSP00000086300
Gene: ENSMUSG00000022387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
46 |
196 |
1.3e-38 |
PFAM |
|
PHD
|
216 |
262 |
3.17e-7 |
SMART |
|
PHD
|
326 |
389 |
5.16e-7 |
SMART |
|
low complexity region
|
415 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
551 |
N/A |
INTRINSIC |
|
BROMO
|
560 |
668 |
8.59e-39 |
SMART |
|
coiled coil region
|
704 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109380
AA Change: K428E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: K428E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
46 |
196 |
3.3e-38 |
PFAM |
|
PHD
|
216 |
262 |
3.17e-7 |
SMART |
|
PHD
|
326 |
389 |
5.16e-7 |
SMART |
|
low complexity region
|
415 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
551 |
N/A |
INTRINSIC |
|
BROMO
|
560 |
668 |
8.59e-39 |
SMART |
|
coiled coil region
|
704 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
869 |
N/A |
INTRINSIC |
|
PWWP
|
927 |
1010 |
2.25e-39 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109381
AA Change: K428E
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: K428E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
47 |
196 |
3.9e-37 |
PFAM |
|
PHD
|
216 |
262 |
3.17e-7 |
SMART |
|
PHD
|
326 |
389 |
5.16e-7 |
SMART |
|
low complexity region
|
415 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
551 |
N/A |
INTRINSIC |
|
BROMO
|
560 |
668 |
8.59e-39 |
SMART |
|
coiled coil region
|
704 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
898 |
N/A |
INTRINSIC |
|
low complexity region
|
967 |
1000 |
N/A |
INTRINSIC |
|
PWWP
|
1058 |
1141 |
2.25e-39 |
SMART |
|
| 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 bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Brd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Brd1
|
APN |
15 |
88,614,361 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01626:Brd1
|
APN |
15 |
88,585,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02569:Brd1
|
APN |
15 |
88,598,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Brd1
|
APN |
15 |
88,585,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Brd1
|
APN |
15 |
88,572,577 (GRCm39) |
missense |
probably benign |
|
|
IGL03343:Brd1
|
APN |
15 |
88,591,454 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
spry
|
UTSW |
15 |
88,572,558 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0089:Brd1
|
UTSW |
15 |
88,585,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0112:Brd1
|
UTSW |
15 |
88,614,586 (GRCm39) |
missense |
probably benign |
|
|
R0165:Brd1
|
UTSW |
15 |
88,613,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0965:Brd1
|
UTSW |
15 |
88,601,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Brd1
|
UTSW |
15 |
88,585,014 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1195:Brd1
|
UTSW |
15 |
88,585,014 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1195:Brd1
|
UTSW |
15 |
88,585,014 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1534:Brd1
|
UTSW |
15 |
88,573,866 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2245:Brd1
|
UTSW |
15 |
88,574,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3611:Brd1
|
UTSW |
15 |
88,585,147 (GRCm39) |
missense |
probably benign |
|
|
R3751:Brd1
|
UTSW |
15 |
88,573,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3752:Brd1
|
UTSW |
15 |
88,573,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3753:Brd1
|
UTSW |
15 |
88,573,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3801:Brd1
|
UTSW |
15 |
88,601,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Brd1
|
UTSW |
15 |
88,614,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Brd1
|
UTSW |
15 |
88,613,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Brd1
|
UTSW |
15 |
88,585,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5659:Brd1
|
UTSW |
15 |
88,597,584 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5730:Brd1
|
UTSW |
15 |
88,601,248 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5773:Brd1
|
UTSW |
15 |
88,573,752 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6224:Brd1
|
UTSW |
15 |
88,572,558 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6371:Brd1
|
UTSW |
15 |
88,598,201 (GRCm39) |
missense |
probably benign |
|
|
R7096:Brd1
|
UTSW |
15 |
88,598,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Brd1
|
UTSW |
15 |
88,613,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Brd1
|
UTSW |
15 |
88,614,834 (GRCm39) |
nonsense |
probably null |
|
|
R8869:Brd1
|
UTSW |
15 |
88,614,729 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9079:Brd1
|
UTSW |
15 |
88,598,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Brd1
|
UTSW |
15 |
88,585,374 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9351:Brd1
|
UTSW |
15 |
88,614,307 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-04-17 |
Incidental Mutation