Incidental Mutation 'R1195:Brd1'
ID |
101079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brd1
|
Ensembl Gene |
ENSMUSG00000022387 |
Gene Name |
bromodomain containing 1 |
Synonyms |
1110059H06Rik |
MMRRC Submission |
039267-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1195 (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 88585014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 940
(E940G)
|
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: E809G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000105006 Gene: ENSMUSG00000022387 AA Change: E809G
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: E940G
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105007 Gene: ENSMUSG00000022387 AA Change: E940G
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
|
Meta Mutation Damage Score |
0.0952 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 81.3%
|
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 |
Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTTAGCAGTGGAAACAGCCTC -3'
(R):5'- CTGCAAATCGAAAAGTGTAAGCCCC -3'
Sequencing Primer
(F):5'- TTTACCCACAAGATAAGGAGTGC -3'
(R):5'- TGTAAGCCCCCCAAAGTCTG -3'
|
Posted On |
2014-01-15 |