Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Brd4'

153486

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 #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

32415248-32503696 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 32431803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115163 (fasta)

Gene Model

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

AlphaFold

Q9ESU6

Predicted Effect

probably benign
Transcript: ENSMUST00000003726

SMART Domains

Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002

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

SMART Domains

Protein: ENSMUSP00000110119
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	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

SMART Domains

Protein: ENSMUSP00000113197
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	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

SMART Domains

Protein: ENSMUSP00000112474
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	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

SMART Domains

Protein: ENSMUSP00000113070
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	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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,645 (GRCm39)	D860G	possibly damaging	Het
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Adam19	A	T	11: 46,003,751 (GRCm39)	H193L	probably benign	Het
AI661453	T	A	17: 47,777,548 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,983,953 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,586,048 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,269 (GRCm39)	Q713R	probably benign	Het
Cfap52	A	T	11: 67,844,406 (GRCm39)	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846 (GRCm39)	T475S	probably damaging	Het
Dync2i1	G	A	12: 116,182,418 (GRCm39)	P728L	possibly damaging	Het
Fat2	A	T	11: 55,187,035 (GRCm39)	D1270E	probably damaging	Het
Hfm1	T	C	5: 107,052,659 (GRCm39)	K275E	probably damaging	Het
Ift172	T	C	5: 31,438,058 (GRCm39)	D426G	probably benign	Het
Mrc1	T	C	2: 14,243,059 (GRCm39)	S62P	probably damaging	Het
Or13f5	G	T	4: 52,825,468 (GRCm39)	E24*	probably null	Het
Or8b50	T	A	9: 38,518,589 (GRCm39)	I276K	probably damaging	Het
Ptgs2	A	T	1: 149,977,740 (GRCm39)		probably null	Het
Rxfp1	T	A	3: 79,559,523 (GRCm39)	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,187,418 (GRCm39)		probably benign	Het
Serpinb13	T	G	1: 106,928,484 (GRCm39)	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,361,824 (GRCm39)	S80R	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Stat1	A	G	1: 52,176,080 (GRCm39)	E195G	probably damaging	Het
Tbx5	T	A	5: 119,983,023 (GRCm39)		probably benign	Het
Tmem165	A	G	5: 76,352,010 (GRCm39)	T164A	probably damaging	Het
Trim66	A	T	7: 109,085,252 (GRCm39)		probably null	Het
Trip10	T	A	17: 57,568,409 (GRCm39)	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,372,275 (GRCm39)	C28*	probably null	Het
Zbtb8a	C	T	4: 129,251,640 (GRCm39)	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,956,508 (GRCm39)	F1705S	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
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
R9675:Brd4	UTSW	17	32,433,786 (GRCm39)	missense	unknown
X0064:Brd4	UTSW	17	32,420,101 (GRCm39)	unclassified	probably benign

Posted On

2014-02-04