Incidental Mutation 'IGL02750:Brd4'
| ID |
306260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brd4
|
| Ensembl Gene |
ENSMUSG00000024002 |
| Gene Name |
bromodomain containing 4 |
| Synonyms |
WI-11513, HUNK1, MCAP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 32417353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003726]
[ENSMUST00000119123]
[ENSMUST00000121285]
[ENSMUST00000230858]
|
| AlphaFold |
Q9ESU6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003726
AA Change: R1291W
|
| SMART Domains |
Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: R1291W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
54 |
N/A |
INTRINSIC |
|
BROMO
|
56 |
166 |
1e-52 |
SMART |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
339 |
N/A |
INTRINSIC |
|
BROMO
|
352 |
461 |
1.2e-48 |
SMART |
|
coiled coil region
|
504 |
570 |
N/A |
INTRINSIC |
|
Pfam:BET
|
611 |
675 |
6.4e-33 |
PFAM |
|
low complexity region
|
701 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
854 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
929 |
939 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
1005 |
N/A |
INTRINSIC |
|
low complexity region
|
1013 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1212 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1260 |
N/A |
INTRINSIC |
|
coiled coil region
|
1261 |
1345 |
N/A |
INTRINSIC |
|
Pfam:BRD4_CDT
|
1358 |
1400 |
3.8e-24 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119123
AA Change: R1290W
|
| SMART Domains |
Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: R1290W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
54 |
N/A |
INTRINSIC |
|
BROMO
|
56 |
166 |
1.67e-50 |
SMART |
|
low complexity region
|
197 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
BROMO
|
351 |
460 |
1.81e-46 |
SMART |
|
coiled coil region
|
503 |
569 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
606 |
683 |
6e-46 |
PDB |
|
low complexity region
|
700 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
1004 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1099 |
N/A |
INTRINSIC |
|
low complexity region
|
1104 |
1119 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1200 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1259 |
N/A |
INTRINSIC |
|
coiled coil region
|
1260 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1361 |
1381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121285
AA Change: R1290W
|
| SMART Domains |
Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: R1290W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
54 |
N/A |
INTRINSIC |
|
BROMO
|
56 |
166 |
1.67e-50 |
SMART |
|
low complexity region
|
197 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
BROMO
|
351 |
460 |
1.81e-46 |
SMART |
|
coiled coil region
|
503 |
569 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
606 |
683 |
6e-46 |
PDB |
|
low complexity region
|
700 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
1004 |
N/A |
INTRINSIC |
|
low complexity region
|
1012 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1099 |
N/A |
INTRINSIC |
|
low complexity region
|
1104 |
1119 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1200 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1259 |
N/A |
INTRINSIC |
|
coiled coil region
|
1260 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1361 |
1381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230858
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene was temporarily named bromodomain-containing 5 (Brd5) and was renamed bromodomain-containing 4 (Brd4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene-trap null mutation die soon after implantation. Heterozygotes exhibit impaired pre- and postnatal growth, head malformations, lack of subcutaneous fat, cataracts, and abnormal liver cells. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(161) : Targeted(1) Gene trapped(160)
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
T |
C |
9: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
| Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,673 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,753,881 (GRCm39) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 52,993,709 (GRCm39) |
I368T |
possibly damaging |
Het |
| Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,599,356 (GRCm39) |
F186S |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,074,587 (GRCm39) |
T209A |
possibly damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
Het |
|
| Other mutations in Brd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Brd4
|
APN |
17 |
32,417,649 (GRCm39) |
splice site |
probably benign |
|
|
IGL01758:Brd4
|
APN |
17 |
32,431,803 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03066:Brd4
|
APN |
17 |
32,418,062 (GRCm39) |
intron |
probably benign |
|
|
IGL03338:Brd4
|
APN |
17 |
32,432,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Admirable
|
UTSW |
17 |
32,444,557 (GRCm39) |
missense |
unknown |
|
|
H8562:Brd4
|
UTSW |
17 |
32,448,377 (GRCm39) |
splice site |
probably benign |
|
|
P0035:Brd4
|
UTSW |
17 |
32,431,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0243:Brd4
|
UTSW |
17 |
32,443,097 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0281:Brd4
|
UTSW |
17 |
32,432,514 (GRCm39) |
unclassified |
probably benign |
|
|
R0331:Brd4
|
UTSW |
17 |
32,421,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0722:Brd4
|
UTSW |
17 |
32,431,956 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0750:Brd4
|
UTSW |
17 |
32,439,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1544:Brd4
|
UTSW |
17 |
32,417,646 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Brd4
|
UTSW |
17 |
32,417,060 (GRCm39) |
unclassified |
probably benign |
|
|
R1922:Brd4
|
UTSW |
17 |
32,417,060 (GRCm39) |
unclassified |
probably benign |
|
|
R1957:Brd4
|
UTSW |
17 |
32,440,340 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2240:Brd4
|
UTSW |
17 |
32,432,613 (GRCm39) |
unclassified |
probably benign |
|
|
R2316:Brd4
|
UTSW |
17 |
32,431,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2333:Brd4
|
UTSW |
17 |
32,440,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3809:Brd4
|
UTSW |
17 |
32,430,244 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4273:Brd4
|
UTSW |
17 |
32,433,756 (GRCm39) |
missense |
probably benign |
|
|
R4595:Brd4
|
UTSW |
17 |
32,417,896 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4854:Brd4
|
UTSW |
17 |
32,439,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4923:Brd4
|
UTSW |
17 |
32,418,214 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5014:Brd4
|
UTSW |
17 |
32,417,372 (GRCm39) |
unclassified |
probably benign |
|
|
R5757:Brd4
|
UTSW |
17 |
32,420,272 (GRCm39) |
unclassified |
probably benign |
|
|
R5979:Brd4
|
UTSW |
17 |
32,417,700 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6212:Brd4
|
UTSW |
17 |
32,421,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6394:Brd4
|
UTSW |
17 |
32,443,121 (GRCm39) |
nonsense |
probably null |
|
|
R6643:Brd4
|
UTSW |
17 |
32,417,470 (GRCm39) |
missense |
unknown |
|
|
R7024:Brd4
|
UTSW |
17 |
32,440,884 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7033:Brd4
|
UTSW |
17 |
32,417,989 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7220:Brd4
|
UTSW |
17 |
32,444,557 (GRCm39) |
missense |
unknown |
|
|
R7682:Brd4
|
UTSW |
17 |
32,420,134 (GRCm39) |
missense |
unknown |
|
|
R7731:Brd4
|
UTSW |
17 |
32,430,198 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7732:Brd4
|
UTSW |
17 |
32,440,386 (GRCm39) |
missense |
unknown |
|
|
R7750:Brd4
|
UTSW |
17 |
32,432,521 (GRCm39) |
missense |
unknown |
|
|
R7756:Brd4
|
UTSW |
17 |
32,417,956 (GRCm39) |
missense |
unknown |
|
|
R7758:Brd4
|
UTSW |
17 |
32,417,956 (GRCm39) |
missense |
unknown |
|
|
R7779:Brd4
|
UTSW |
17 |
32,431,910 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8214:Brd4
|
UTSW |
17 |
32,431,921 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8405:Brd4
|
UTSW |
17 |
32,448,505 (GRCm39) |
missense |
unknown |
|
|
R9675:Brd4
|
UTSW |
17 |
32,433,786 (GRCm39) |
missense |
unknown |
|
|
X0064:Brd4
|
UTSW |
17 |
32,420,101 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation