Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Brd4'

417105

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

32415248-32503696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32432046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 606 (D606V)

Ref Sequence

ENSEMBL: ENSMUSP00000110119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003726] [ENSMUST00000114475] [ENSMUST00000119123] [ENSMUST00000120276] [ENSMUST00000121285] [ENSMUST00000125899] [ENSMUST00000127893]

AlphaFold

Q9ESU6

PDB Structure

Crystal structure of Bromodomain-containing protein 4 [X-RAY DIFFRACTION]
Solution structure of the Bromodomain-containing protein 4 ET domain [SOLUTION NMR]
Crystal structure of the bromodomain 1 in mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 1 of mouse Brd4 in complex with histone H3-K(ac)14 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 2 of mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of bromodomain 2 of mouse Brd4 [X-RAY DIFFRACTION]
Crystal structure of Brd4 bromodomain 1 with propionylated histone H3-K(prop)23 [X-RAY DIFFRACTION]
Crystal structure of Brd4 bromodomain 1 with butyrylated histone H3-K(buty)14 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003726
AA Change: D607V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: D607V

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 damaging
Transcript: ENSMUST00000114475
AA Change: D606V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110119
Gene: ENSMUSG00000024002
AA Change: D606V

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 damaging
Transcript: ENSMUST00000119123
AA Change: D606V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: D606V

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 damaging
Transcript: ENSMUST00000120276
AA Change: D606V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: D606V

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 damaging
Transcript: ENSMUST00000121285
AA Change: D606V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: D606V

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Lyrm1	A	T	7: 119,513,469 (GRCm39)	Q78L	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Mboat1	T	A	13: 30,320,742 (GRCm39)	D31E	probably benign	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Or6c66b	A	G	10: 129,376,925 (GRCm39)	D173G	probably damaging	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Rgmb	C	T	17: 16,027,565 (GRCm39)	A385T	possibly damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Sntn	A	T	14: 13,678,991 (GRCm38)	D55V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	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
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
R9675:Brd4	UTSW	17	32,433,786 (GRCm39)	missense	unknown
X0064:Brd4	UTSW	17	32,420,101 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02