Incidental Mutation 'R3611:Brd1'
| ID |
269239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd1
|
| Ensembl Gene |
ENSMUSG00000022387 |
| Gene Name |
bromodomain containing 1 |
| Synonyms |
1110059H06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3611 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88571237-88618436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88585147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 896
(S896P)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
| 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 benign
Transcript: ENSMUST00000109381
AA Change: S896P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: S896P
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,846,965 (GRCm39) |
T521M |
probably benign |
Het |
| Ap1b1 |
A |
G |
11: 4,974,427 (GRCm39) |
K345R |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,066,972 (GRCm39) |
W53R |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,252,973 (GRCm39) |
S281P |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,675,116 (GRCm39) |
D601G |
probably damaging |
Het |
| Cntn3 |
C |
A |
6: 102,185,038 (GRCm39) |
V693L |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,408 (GRCm39) |
V855A |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,202,895 (GRCm39) |
M60V |
probably benign |
Het |
| Fmnl1 |
A |
G |
11: 103,085,591 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,734,752 (GRCm39) |
S268P |
probably benign |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,733,763 (GRCm39) |
|
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,380,613 (GRCm39) |
V608A |
probably benign |
Het |
| Macir |
T |
C |
1: 97,574,059 (GRCm39) |
E2G |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,120,632 (GRCm39) |
V501M |
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,013 (GRCm39) |
C65Y |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,867 (GRCm39) |
T186A |
probably benign |
Het |
| Rims4 |
T |
A |
2: 163,721,126 (GRCm39) |
I42F |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,705,197 (GRCm39) |
E700D |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,533 (GRCm39) |
V85A |
unknown |
Het |
| Srbd1 |
T |
C |
17: 86,410,355 (GRCm39) |
T526A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Ubtfl1 |
T |
C |
9: 18,320,661 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,268 (GRCm39) |
K270R |
possibly damaging |
Het |
| Zfp750 |
G |
A |
11: 121,402,981 (GRCm39) |
P589L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,159,848 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGAGCACCATGGTTTTC -3'
(R):5'- ATAGCACTTGCACTCAGAGCG -3'
Sequencing Primer
(F):5'- GAGCACCATGGTTTTCTATTATGAGC -3'
(R):5'- CACTCAGAGCGCACTGGTAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation