Incidental Mutation 'R5659:Brd1'
ID |
444004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brd1
|
Ensembl Gene |
ENSMUSG00000022387 |
Gene Name |
bromodomain containing 1 |
Synonyms |
1110059H06Rik |
MMRRC Submission |
043303-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5659 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
88571237-88618436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88597584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 568
(T568A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105006
(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: T568A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105006 Gene: ENSMUSG00000022387 AA Change: T568A
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: T568A
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000105007 Gene: ENSMUSG00000022387 AA Change: T568A
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: ENSMUST00000139515
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156155
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
Het |
Zhx2 |
T |
C |
15: 57,685,704 (GRCm39) |
S358P |
probably benign |
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 |
|
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 |
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'- AGTGCTTTACAACGAGGTACAATC -3'
(R):5'- CGCTTCTGTGATTGTGCAGTAC -3'
Sequencing Primer
(F):5'- CCAGTTGCATGCTTCCTA -3'
(R):5'- GCAGTACGTGGAGGTGC -3'
|
Posted On |
2016-11-09 |