Incidental Mutation 'IGL03066:Brd4'
| ID |
409688 |
| 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 # |
IGL03066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 32418062 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: S1122A
|
| SMART Domains |
Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: S1122A
| 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: S1121A
|
| SMART Domains |
Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: S1121A
| 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: S1121A
|
| SMART Domains |
Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: S1121A
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd209d |
C |
A |
8: 3,928,437 (GRCm39) |
|
probably null |
Het |
| Cela2a |
T |
A |
4: 141,548,765 (GRCm39) |
I124F |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,335,262 (GRCm39) |
N245K |
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,765,183 (GRCm39) |
F148L |
probably benign |
Het |
| Ctsj |
A |
C |
13: 61,152,302 (GRCm39) |
H21Q |
possibly damaging |
Het |
| Cul4a |
A |
G |
8: 13,183,776 (GRCm39) |
N388S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,418,553 (GRCm39) |
D147G |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,369,089 (GRCm39) |
T4287A |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,562,758 (GRCm39) |
C534F |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,596,001 (GRCm39) |
E49G |
probably benign |
Het |
| Fancm |
G |
T |
12: 65,171,888 (GRCm39) |
E86* |
probably null |
Het |
| Galnt17 |
A |
T |
5: 130,929,486 (GRCm39) |
S440R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Lctl |
T |
G |
9: 64,025,017 (GRCm39) |
M1R |
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,860 (GRCm39) |
T154A |
possibly damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,715 (GRCm39) |
V750F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,549,595 (GRCm39) |
V950A |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,801 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,778 (GRCm39) |
I172F |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,419,305 (GRCm39) |
R57S |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,667 (GRCm39) |
H54R |
probably benign |
Het |
| Pask |
A |
T |
1: 93,258,588 (GRCm39) |
S253R |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,208 (GRCm39) |
H3253Q |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,971,523 (GRCm39) |
|
probably benign |
Het |
| Rnf169 |
G |
T |
7: 99,574,760 (GRCm39) |
R612S |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,278 (GRCm39) |
D104E |
probably benign |
Het |
| Shh |
G |
T |
5: 28,666,369 (GRCm39) |
D172E |
probably damaging |
Het |
| Sil1 |
G |
T |
18: 35,402,259 (GRCm39) |
|
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 82,992,557 (GRCm39) |
I388T |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,149,457 (GRCm39) |
Y946C |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,878,168 (GRCm39) |
I219F |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,248,879 (GRCm39) |
D529G |
probably damaging |
Het |
| Txnip |
G |
A |
3: 96,466,934 (GRCm39) |
E203K |
probably damaging |
Het |
| Ubc |
G |
T |
5: 125,465,327 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
A |
T |
1: 128,188,591 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,268,721 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,574 (GRCm39) |
N49I |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,339 (GRCm39) |
I292N |
probably damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,044 (GRCm39) |
I137M |
probably benign |
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 |
|
|
IGL02750:Brd4
|
APN |
17 |
32,417,353 (GRCm39) |
unclassified |
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 |
2016-08-02 |
Incidental Mutation