Incidental Mutation 'IGL02569:Brd1'
ID |
298958 |
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 # |
IGL02569
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
88571237-88618436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88598132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 538
(L538P)
|
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 damaging
Transcript: ENSMUST00000109380
AA Change: L538P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105006 Gene: ENSMUSG00000022387 AA Change: L538P
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: L538P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105007 Gene: ENSMUSG00000022387 AA Change: L538P
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,034,061 (GRCm39) |
D2223G |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,391,245 (GRCm39) |
V424A |
probably damaging |
Het |
Capg |
A |
C |
6: 72,538,032 (GRCm39) |
E306A |
probably damaging |
Het |
Cdc14b |
T |
C |
13: 64,373,428 (GRCm39) |
Y115C |
probably benign |
Het |
Crat |
G |
A |
2: 30,294,542 (GRCm39) |
R509W |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,477,985 (GRCm39) |
N1594S |
possibly damaging |
Het |
Fabp2 |
T |
C |
3: 122,689,113 (GRCm39) |
F18L |
probably damaging |
Het |
Fam187a |
A |
G |
11: 102,776,985 (GRCm39) |
K263R |
probably benign |
Het |
Fam227a |
C |
T |
15: 79,518,323 (GRCm39) |
C323Y |
probably benign |
Het |
Fas |
A |
G |
19: 34,297,962 (GRCm39) |
E210G |
possibly damaging |
Het |
Fgfbp1 |
A |
G |
5: 44,136,569 (GRCm39) |
F241S |
probably damaging |
Het |
Gramd1a |
A |
T |
7: 30,829,932 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,573,244 (GRCm39) |
M2135K |
probably benign |
Het |
Ikbkb |
G |
T |
8: 23,183,899 (GRCm39) |
Q84K |
probably damaging |
Het |
Kcnk9 |
T |
C |
15: 72,384,426 (GRCm39) |
T251A |
probably benign |
Het |
Mphosph9 |
C |
A |
5: 124,435,634 (GRCm39) |
E600* |
probably null |
Het |
Or2ag1 |
T |
A |
7: 106,313,793 (GRCm39) |
I32L |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,849 (GRCm39) |
T30S |
probably benign |
Het |
Pde1a |
C |
A |
2: 79,698,602 (GRCm39) |
K341N |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
Scart2 |
A |
C |
7: 139,878,275 (GRCm39) |
I885L |
probably benign |
Het |
Slc17a3 |
A |
G |
13: 24,030,285 (GRCm39) |
Y132C |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
St6galnac1 |
T |
C |
11: 116,658,528 (GRCm39) |
D312G |
probably damaging |
Het |
Tardbp |
A |
G |
4: 148,703,639 (GRCm39) |
|
probably null |
Het |
Tex9 |
C |
T |
9: 72,385,645 (GRCm39) |
V8I |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,301,382 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
C |
T |
15: 88,818,129 (GRCm39) |
W182* |
probably null |
Het |
Vmn2r61 |
G |
A |
7: 41,926,070 (GRCm39) |
G525E |
probably damaging |
Het |
Zfp111 |
T |
C |
7: 23,906,494 (GRCm39) |
T2A |
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 |
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 |
2015-04-16 |