Incidental Mutation 'R2316:Brd4'
| ID |
245514 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2316 (G1)
|
| Quality Score |
224 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32431884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 660
(L660Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003726]
[ENSMUST00000114475]
[ENSMUST00000119123]
[ENSMUST00000120276]
[ENSMUST00000121285]
[ENSMUST00000125899]
[ENSMUST00000127893]
|
| AlphaFold |
Q9ESU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003726
AA Change: L661Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: L661Q
| 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 benign
Transcript: ENSMUST00000114475
AA Change: L660Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110119
Gene: ENSMUSG00000024002
AA Change: L660Q
| 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 benign
Transcript: ENSMUST00000119123
AA Change: L660Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: L660Q
| 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: ENSMUST00000120276
AA Change: L660Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: L660Q
| 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 benign
Transcript: ENSMUST00000121285
AA Change: L660Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: L660Q
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
| Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
| Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
| Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
| Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
| Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
| Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
| Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
| Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
| Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
| Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
| Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
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 |
|
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 |
|
|
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'- AGGCATGACAATCCAGGGTC -3'
(R):5'- TCCCACATATGAATCAGAAGAGG -3'
Sequencing Primer
(F):5'- AGGGTTTCTATGGTAAACGCATAG -3'
(R):5'- GAGGATAAGTGTAAGCCCATGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation