Incidental Mutation 'IGL03338:Brd4'
ID |
417105 |
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 # |
IGL03338
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32432046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 606
(D606V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003726]
[ENSMUST00000114475]
[ENSMUST00000119123]
[ENSMUST00000120276]
[ENSMUST00000121285]
[ENSMUST00000125899]
[ENSMUST00000127893]
|
AlphaFold |
Q9ESU6 |
PDB Structure |
Crystal structure of Bromodomain-containing protein 4 [X-RAY DIFFRACTION]
Solution structure of the Bromodomain-containing protein 4 ET domain [SOLUTION NMR]
Crystal structure of the bromodomain 1 in mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 1 of mouse Brd4 in complex with histone H3-K(ac)14 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 2 of mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 2 of mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of Brd4 bromodomain 1 with propionylated histone H3-K(prop)23 [X-RAY DIFFRACTION]
Crystal structure of Brd4 bromodomain 1 with butyrylated histone H3-K(buty)14 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003726
AA Change: D607V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000003726 Gene: ENSMUSG00000024002 AA Change: D607V
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 |
probably damaging
Transcript: ENSMUST00000114475
AA Change: D606V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110119 Gene: ENSMUSG00000024002 AA Change: D606V
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 |
3e-46 |
PDB |
low complexity region
|
700 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119123
AA Change: D606V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113197 Gene: ENSMUSG00000024002 AA Change: D606V
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 |
probably damaging
Transcript: ENSMUST00000120276
AA Change: D606V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112474 Gene: ENSMUSG00000024002 AA Change: D606V
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 |
3e-46 |
PDB |
low complexity region
|
700 |
721 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121285
AA Change: D606V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113070 Gene: ENSMUSG00000024002 AA Change: D606V
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 |
probably benign
Transcript: ENSMUST00000125899
|
SMART Domains |
Protein: ENSMUSP00000115277 Gene: ENSMUSG00000024002
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
54 |
N/A |
INTRINSIC |
BROMO
|
56 |
144 |
5.02e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127893
|
SMART Domains |
Protein: ENSMUSP00000115163 Gene: ENSMUSG00000024002
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 |
531 |
N/A |
INTRINSIC |
low complexity region
|
536 |
557 |
N/A |
INTRINSIC |
|
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 |
Abcb1a |
G |
A |
5: 8,744,153 (GRCm39) |
V260M |
probably damaging |
Het |
Accsl |
T |
A |
2: 93,686,092 (GRCm39) |
H575L |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,253,512 (GRCm39) |
I218F |
possibly damaging |
Het |
Bora |
C |
A |
14: 99,310,178 (GRCm39) |
N502K |
probably damaging |
Het |
Ccdc190 |
T |
A |
1: 169,757,544 (GRCm39) |
M1K |
probably null |
Het |
Ccl25 |
T |
C |
8: 4,399,898 (GRCm39) |
|
probably benign |
Het |
Cep78 |
G |
T |
19: 15,936,987 (GRCm39) |
T573K |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cntn4 |
C |
T |
6: 106,632,550 (GRCm39) |
H525Y |
probably damaging |
Het |
D630039A03Rik |
T |
C |
4: 57,910,509 (GRCm39) |
E101G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,387,403 (GRCm39) |
V941A |
probably benign |
Het |
Exoc6b |
A |
G |
6: 84,821,112 (GRCm39) |
I559T |
probably damaging |
Het |
Fmr1 |
T |
C |
X: 67,731,942 (GRCm39) |
|
probably null |
Het |
Ghr |
A |
T |
15: 3,377,024 (GRCm39) |
C66S |
probably damaging |
Het |
Hook1 |
C |
A |
4: 95,886,929 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
T |
C |
X: 48,876,376 (GRCm39) |
T73A |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,701,755 (GRCm39) |
K451R |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,266,122 (GRCm39) |
V698A |
probably benign |
Het |
Kat2a |
T |
C |
11: 100,602,301 (GRCm39) |
D151G |
probably benign |
Het |
Lyrm1 |
A |
T |
7: 119,513,469 (GRCm39) |
Q78L |
probably benign |
Het |
Madd |
C |
T |
2: 90,992,507 (GRCm39) |
G1012E |
possibly damaging |
Het |
Mboat1 |
T |
A |
13: 30,320,742 (GRCm39) |
D31E |
probably benign |
Het |
Myh8 |
C |
A |
11: 67,189,172 (GRCm39) |
A1116D |
probably damaging |
Het |
Nop2 |
G |
A |
6: 125,116,695 (GRCm39) |
|
probably null |
Het |
Notch1 |
A |
G |
2: 26,349,971 (GRCm39) |
S2390P |
probably benign |
Het |
Or10ag57 |
T |
G |
2: 87,218,470 (GRCm39) |
N140K |
probably benign |
Het |
Or52z14 |
T |
A |
7: 103,253,615 (GRCm39) |
C251* |
probably null |
Het |
Or6c66b |
A |
G |
10: 129,376,925 (GRCm39) |
D173G |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,467,816 (GRCm39) |
S272P |
probably damaging |
Het |
Plg |
A |
G |
17: 12,637,959 (GRCm39) |
Y795C |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,536,843 (GRCm39) |
K335R |
probably benign |
Het |
Pramel13 |
T |
A |
4: 144,121,397 (GRCm39) |
Y209F |
probably benign |
Het |
Pramel24 |
T |
C |
4: 143,453,312 (GRCm39) |
I140T |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,692,411 (GRCm39) |
I197V |
probably benign |
Het |
Pramel28 |
T |
A |
4: 143,692,608 (GRCm39) |
Q131L |
probably benign |
Het |
Prdm4 |
A |
T |
10: 85,743,685 (GRCm39) |
M190K |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,210,489 (GRCm39) |
F597L |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,060,940 (GRCm39) |
E403G |
probably damaging |
Het |
Rgmb |
C |
T |
17: 16,027,565 (GRCm39) |
A385T |
possibly damaging |
Het |
Scn4a |
T |
A |
11: 106,211,671 (GRCm39) |
I1449F |
probably damaging |
Het |
Slc17a9 |
T |
C |
2: 180,382,311 (GRCm39) |
|
probably benign |
Het |
Slc26a2 |
T |
C |
18: 61,331,974 (GRCm39) |
I486V |
probably damaging |
Het |
Sntn |
A |
T |
14: 13,678,991 (GRCm38) |
D55V |
probably damaging |
Het |
Snx25 |
T |
A |
8: 46,498,247 (GRCm39) |
R595S |
probably benign |
Het |
Spag11b |
C |
T |
8: 19,191,426 (GRCm39) |
T33I |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,841,181 (GRCm39) |
I81M |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,795,039 (GRCm39) |
V481A |
probably damaging |
Het |
Zfp867 |
G |
A |
11: 59,355,003 (GRCm39) |
Q109* |
probably null |
Het |
Zfp935 |
T |
C |
13: 62,602,247 (GRCm39) |
T318A |
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 |
|
IGL03066:Brd4
|
APN |
17 |
32,418,062 (GRCm39) |
intron |
probably benign |
|
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 |