Incidental Mutation 'R9675:Brd4'
| ID |
728317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd4
|
| Ensembl Gene |
ENSMUSG00000024002 |
| Gene Name |
bromodomain containing 4 |
| Synonyms |
WI-11513, HUNK1, MCAP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32415248-32503696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32433786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 459
(M459K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003726]
[ENSMUST00000120276]
[ENSMUST00000121285]
[ENSMUST00000125899]
[ENSMUST00000127893]
|
| AlphaFold |
Q9ESU6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003726
AA Change: M459K
|
| SMART Domains |
Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: M459K
| 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: ENSMUST00000120276
AA Change: M458K
|
| SMART Domains |
Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: M458K
| 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: M458K
|
| SMART Domains |
Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: M458K
| 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 |
unknown
Transcript: ENSMUST00000127893
AA Change: M458K
|
| SMART Domains |
Protein: ENSMUSP00000115163
Gene: ENSMUSG00000024002
AA Change: M458K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
| Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
| Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
| Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
| Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
| Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
| Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
| Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
| Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
| Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
| Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
| Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
| Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
| Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
| Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
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 |
|
|
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 |
|
|
X0064:Brd4
|
UTSW |
17 |
32,420,101 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGTTCCTGGAGTTCAG -3'
(R):5'- GTCTTGCTCATGGCCTAACAC -3'
Sequencing Primer
(F):5'- TGGAGTTCAGCCAGCCG -3'
(R):5'- TGCTCATGGCCTAACACTTACTAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation