Incidental Mutation 'R4595:Brd4'
ID |
344351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brd4
|
Ensembl Gene |
ENSMUSG00000024002 |
Gene Name |
bromodomain containing 4 |
Synonyms |
WI-11513, HUNK1, MCAP |
MMRRC Submission |
041811-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4595 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32417896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 86
(I86N)
|
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: I1177N
|
SMART Domains |
Protein: ENSMUSP00000003726 Gene: ENSMUSG00000024002 AA Change: I1177N
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: I1176N
|
SMART Domains |
Protein: ENSMUSP00000113197 Gene: ENSMUSG00000024002 AA Change: I1176N
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: I1176N
|
SMART Domains |
Protein: ENSMUSP00000113070 Gene: ENSMUSG00000024002 AA Change: I1176N
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 damaging
Transcript: ENSMUST00000230858
AA Change: I86N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.0716 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
94% (62/66) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
probably damaging |
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 |
|
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 |
|
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'- GATGAGAGCACTGAAGCACC -3'
(R):5'- ACGTCCAGCCTAAGAAGCAG -3'
Sequencing Primer
(F):5'- GATGAGAGCACTGAAGCACCTACTAC -3'
(R):5'- CAGTCATGGGCCAAGGC -3'
|
Posted On |
2015-09-25 |