Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Brd4'

595943

Institutional Source

Beutler Lab

Gene Symbol

Brd4

Ensembl Gene

ENSMUSG00000024002

Gene Name

bromodomain containing 4

Synonyms

WI-11513, HUNK1, MCAP

MMRRC Submission

045788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32415248-32503696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32440386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 318 (A318S)

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: A318S

SMART Domains

Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: A318S

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: A317S

SMART Domains

Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: A317S

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: A317S

SMART Domains

Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: A317S

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: A317S

SMART Domains

Protein: ENSMUSP00000115163
Gene: ENSMUSG00000024002
AA Change: A317S

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,075,451 (GRCm39)	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,478,041 (GRCm39)	M69V		Het
Ap3m2	G	T	8: 23,287,105 (GRCm39)	D192E	probably benign	Het
Arel1	A	G	12: 84,974,663 (GRCm39)	V493A	probably benign	Het
Arhgap27	T	C	11: 103,230,869 (GRCm39)	H140R	probably benign	Het
Bcat2	C	T	7: 45,234,617 (GRCm39)	T166M	possibly damaging	Het
Cabp4	T	A	19: 4,185,994 (GRCm39)	T270S	probably benign	Het
Cd22	G	A	7: 30,569,482 (GRCm39)	R545C	probably damaging	Het
Cdc23	C	A	18: 34,769,755 (GRCm39)		probably null	Het
Chst4	G	A	8: 110,756,514 (GRCm39)	Q450*	probably null	Het
Ctsc	G	A	7: 87,946,367 (GRCm39)	R132Q	probably damaging	Het
Cyp2b19	A	G	7: 26,470,769 (GRCm39)	D470G	possibly damaging	Het
Dcc	C	T	18: 71,579,506 (GRCm39)	G689D	probably benign	Het
Disc1	G	T	8: 125,977,714 (GRCm39)	G779*	probably null	Het
Dock1	T	G	7: 134,346,699 (GRCm39)	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,365,220 (GRCm39)	V14A	probably benign	Het
Dynlt2a3	A	G	17: 15,187,947 (GRCm39)	V109A	probably benign	Het
Epha10	A	G	4: 124,809,092 (GRCm39)	D779G		Het
Eprs1	A	G	1: 185,105,136 (GRCm39)	H137R	probably benign	Het
Eps15l1	A	C	8: 73,134,820 (GRCm39)	L447R	probably damaging	Het
Esyt1	A	G	10: 128,357,694 (GRCm39)		probably null	Het
Fam221a	A	G	6: 49,349,563 (GRCm39)	K43E	probably benign	Het
Fanci	A	G	7: 79,062,400 (GRCm39)	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,903,601 (GRCm39)	W76R	probably damaging	Het
Fgd4	A	G	16: 16,302,459 (GRCm39)	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287 (GRCm39)	D365V	unknown	Het
Gabrd	C	T	4: 155,470,075 (GRCm39)	R378H	probably benign	Het
Greb1	A	G	12: 16,723,864 (GRCm39)	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436 (GRCm39)	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,474,692 (GRCm39)	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,220,415 (GRCm39)	F289L	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,852 (GRCm39)	V412A	probably damaging	Het
Igsf11	A	G	16: 38,829,160 (GRCm39)	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,603,358 (GRCm39)	M263I	probably benign	Het
Ms4a14	C	T	19: 11,279,047 (GRCm39)	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,089,618 (GRCm39)		probably null	Het
Nectin4	A	T	1: 171,214,246 (GRCm39)	E467V	probably benign	Het
Or8d1b	A	G	9: 38,887,560 (GRCm39)	E196G	probably damaging	Het
Otogl	G	A	10: 107,642,525 (GRCm39)	H1302Y	probably benign	Het
Pigg	A	G	5: 108,466,841 (GRCm39)	S241G	probably benign	Het
Pip4p1	C	T	14: 51,168,090 (GRCm39)	G48D	possibly damaging	Het
Pom121l12	T	A	11: 14,549,843 (GRCm39)	V183D	probably damaging	Het
Prickle2	T	A	6: 92,388,205 (GRCm39)	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,620,532 (GRCm39)	V488G	probably benign	Het
Ranbp10	A	G	8: 106,499,723 (GRCm39)	I502T	probably benign	Het
Raph1	T	A	1: 60,572,447 (GRCm39)	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 33,152,590 (GRCm39)	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,853,082 (GRCm39)	N158S	probably benign	Het
Serping1	A	T	2: 84,600,448 (GRCm39)	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,414,196 (GRCm39)	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,234,753 (GRCm39)	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,680,472 (GRCm39)	T129A	probably benign	Het
Slit1	T	A	19: 41,592,847 (GRCm39)	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,786,656 (GRCm39)	S130P	probably damaging	Het
Sulf1	A	G	1: 12,913,013 (GRCm39)	D749G	probably benign	Het
Taok3	A	G	5: 117,331,813 (GRCm39)	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,923,136 (GRCm39)	A368D	probably benign	Het
Tdh	T	A	14: 63,733,507 (GRCm39)	H127L	probably damaging	Het
Tmem205	C	A	9: 21,838,703 (GRCm39)		probably null	Het
Tmem30a	A	C	9: 79,687,826 (GRCm39)	F114L	possibly damaging	Het
Tmprss15	T	C	16: 78,800,308 (GRCm39)	K607E	probably benign	Het
Tnxb	A	T	17: 34,913,254 (GRCm39)	D1756V	probably damaging	Het
Trhde	A	G	10: 114,623,969 (GRCm39)	F312L	probably benign	Het
Ttn	G	A	2: 76,656,793 (GRCm39)	P12494L	probably null	Het
Vmn2r61	A	G	7: 41,916,097 (GRCm39)	R237G	probably benign	Het
Vps13c	A	T	9: 67,847,798 (GRCm39)	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,617,495 (GRCm39)	T692A	probably benign	Het
Whamm	A	G	7: 81,221,172 (GRCm39)	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,335 (GRCm39)	S105G	probably damaging	Het
Zfp108	T	A	7: 23,960,952 (GRCm39)	H514Q	probably benign	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Znfx1	T	C	2: 166,884,589 (GRCm39)	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,154,479 (GRCm39)	Y577H	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
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'- CAGGCATAGGCAGCATGTTTC -3'
(R):5'- AGTTATACCTTTGGGCTTGTCC -3'

Sequencing Primer
(F):5'- CTTGGCAAACATCTCCTTGAGGATG -3'
(R):5'- CCTGAGTATTGGGATCCCGGTC -3'

Posted On

2019-11-12