Incidental Mutation 'R0750:Brd4'
ID |
70292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brd4
|
Ensembl Gene |
ENSMUSG00000024002 |
Gene Name |
bromodomain containing 4 |
Synonyms |
WI-11513, HUNK1, MCAP |
MMRRC Submission |
038930-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0750 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32439226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 418
(E418G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003726]
[ENSMUST00000114475]
[ENSMUST00000119123]
[ENSMUST00000120276]
[ENSMUST00000121285]
[ENSMUST00000125899]
[ENSMUST00000127893]
|
AlphaFold |
Q9ESU6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003726
AA Change: E419G
|
SMART Domains |
Protein: ENSMUSP00000003726 Gene: ENSMUSG00000024002 AA Change: E419G
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: ENSMUST00000114475
AA Change: E418G
|
SMART Domains |
Protein: ENSMUSP00000110119 Gene: ENSMUSG00000024002 AA Change: E418G
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 |
unknown
Transcript: ENSMUST00000119123
AA Change: E418G
|
SMART Domains |
Protein: ENSMUSP00000113197 Gene: ENSMUSG00000024002 AA Change: E418G
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: ENSMUST00000120276
AA Change: E418G
|
SMART Domains |
Protein: ENSMUSP00000112474 Gene: ENSMUSG00000024002 AA Change: E418G
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 |
unknown
Transcript: ENSMUST00000121285
AA Change: E418G
|
SMART Domains |
Protein: ENSMUSP00000113070 Gene: ENSMUSG00000024002 AA Change: E418G
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
AA Change: E418G
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000115163 Gene: ENSMUSG00000024002 AA Change: E418G
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCCAGGTTGTTGAAGGGGCAG -3'
(R):5'- TCTCATGCCGAGAACCGGAGTG -3'
Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- cacacacacacacacacac -3'
|
Posted On |
2013-09-30 |