Incidental Mutation 'IGL02646:Brd1'
| ID |
301954 |
| 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 # |
IGL02646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
88571237-88618436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88585080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 918
(V918D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000109380
AA Change: V787D
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: V787D
| 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 |
probably damaging
Transcript: ENSMUST00000109381
AA Change: V918D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: V918D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150004
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
A |
4: 137,182,101 (GRCm39) |
Y85* |
probably null |
Het |
| Abcg2 |
A |
G |
6: 58,662,681 (GRCm39) |
I508V |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,913,075 (GRCm39) |
|
probably null |
Het |
| Api5 |
T |
A |
2: 94,260,184 (GRCm39) |
H24L |
possibly damaging |
Het |
| Apoh |
T |
C |
11: 108,302,968 (GRCm39) |
V311A |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,484,255 (GRCm39) |
V2994L |
possibly damaging |
Het |
| Calr3 |
T |
G |
8: 73,197,304 (GRCm39) |
D43A |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,348,737 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,995,548 (GRCm39) |
S2033P |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,564,194 (GRCm39) |
T1955M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,385,331 (GRCm39) |
D390G |
possibly damaging |
Het |
| Fank1 |
C |
T |
7: 133,481,758 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
T |
11: 96,177,570 (GRCm39) |
Y6F |
possibly damaging |
Het |
| Hspg2 |
A |
C |
4: 137,279,159 (GRCm39) |
S3081R |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,892 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,212 (GRCm39) |
I1762T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,622 (GRCm39) |
D445G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,697 (GRCm39) |
Y35C |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,330,622 (GRCm39) |
I827F |
possibly damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,551 (GRCm39) |
D51G |
probably benign |
Het |
| Rnls |
C |
A |
19: 33,115,684 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,129,962 (GRCm39) |
|
probably null |
Het |
| Sec22b |
T |
A |
3: 97,828,561 (GRCm39) |
V208E |
possibly damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,868 (GRCm39) |
I317N |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,834,043 (GRCm39) |
Y9H |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,529,473 (GRCm39) |
T1910N |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,753 (GRCm39) |
I47F |
probably damaging |
Het |
| Tedc1 |
T |
G |
12: 113,120,921 (GRCm39) |
L118V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,278 (GRCm39) |
S1090T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,812,311 (GRCm39) |
D511G |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,110,669 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,946 (GRCm39) |
L748Q |
probably damaging |
Het |
| Zp2 |
T |
C |
7: 119,734,564 (GRCm39) |
D495G |
possibly 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 |
|
IGL00924:Brd1
|
APN |
15 |
88,613,612 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation