Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Brd4'

322301

Institutional Source

Beutler Lab

Gene Symbol

Brd4

Ensembl Gene

ENSMUSG00000024002

Gene Name

bromodomain containing 4

Synonyms

HUNK1, MCAP, WI-11513

MMRRC Submission

041645-MU

Accession Numbers

Genbank: NM_020508.3; NM_198094.2; MGI: 1888520

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32196274-32284722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32214782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 468 (T468I)

Ref Sequence

ENSEMBL: ENSMUSP00000115163 (fasta)

Gene Model

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

AlphaFold

Q9ESU6

Predicted Effect

unknown
Transcript: ENSMUST00000003726
AA Change: T469I

SMART Domains

Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: T469I

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: ENSMUST00000114475
AA Change: T468I

SMART Domains

Protein: ENSMUSP00000110119
Gene: ENSMUSG00000024002
AA Change: T468I

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

unknown
Transcript: ENSMUST00000119123
AA Change: T468I

SMART Domains

Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: T468I

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: ENSMUST00000120276
AA Change: T468I

SMART Domains

Protein: ENSMUSP00000112474
Gene: ENSMUSG00000024002
AA Change: T468I

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: T468I

SMART Domains

Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: T468I

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
AA Change: T468I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115163
Gene: ENSMUSG00000024002
AA Change: T468I

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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

MGI Phenotype

Strain: 2674141
Lethality: E3-E8
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tas1r1	T	C	4: 152,032,157	E340G	possibly damaging	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably damaging	Het

Other mutations in Brd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Brd4	APN	17	32198675	splice site	probably benign
IGL01758:Brd4	APN	17	32212829	unclassified	probably benign
IGL02750:Brd4	APN	17	32198379	unclassified	probably benign
IGL03066:Brd4	APN	17	32199088	intron	probably benign
IGL03338:Brd4	APN	17	32213072	missense	probably damaging	1.00
Admirable	UTSW	17	32225583	missense	unknown
H8562:Brd4	UTSW	17	32229403	splice site	probably benign
P0035:Brd4	UTSW	17	32212838	critical splice donor site	probably null
R0243:Brd4	UTSW	17	32224123	missense	probably benign	0.15
R0281:Brd4	UTSW	17	32213540	unclassified	probably benign
R0331:Brd4	UTSW	17	32202515	missense	probably benign	0.01
R0722:Brd4	UTSW	17	32212982	missense	possibly damaging	0.76
R0750:Brd4	UTSW	17	32220252	missense	probably benign	0.09
R1544:Brd4	UTSW	17	32198672	splice site	probably benign
R1920:Brd4	UTSW	17	32198086	unclassified	probably benign
R1922:Brd4	UTSW	17	32198086	unclassified	probably benign
R1957:Brd4	UTSW	17	32221366	missense	possibly damaging	0.50
R2240:Brd4	UTSW	17	32213639	unclassified	probably benign
R2316:Brd4	UTSW	17	32212910	missense	probably benign	0.03
R2333:Brd4	UTSW	17	32221457	missense	probably damaging	0.97
R3809:Brd4	UTSW	17	32211270	missense	possibly damaging	0.72
R4595:Brd4	UTSW	17	32198922	missense	probably damaging	0.97
R4854:Brd4	UTSW	17	32220237	missense	probably damaging	0.96
R4923:Brd4	UTSW	17	32199240	missense	probably benign	0.38
R5014:Brd4	UTSW	17	32198398	unclassified	probably benign
R5757:Brd4	UTSW	17	32201298	unclassified	probably benign
R5979:Brd4	UTSW	17	32198726	missense	probably benign	0.32
R6212:Brd4	UTSW	17	32202449	missense	probably damaging	0.98
R6394:Brd4	UTSW	17	32224147	nonsense	probably null
R6643:Brd4	UTSW	17	32198496	missense	unknown
R7024:Brd4	UTSW	17	32221910	utr 3 prime	probably benign
R7033:Brd4	UTSW	17	32199015	missense	probably benign	0.13
R7220:Brd4	UTSW	17	32225583	missense	unknown
R7682:Brd4	UTSW	17	32201160	missense	unknown
R7731:Brd4	UTSW	17	32211224	missense	possibly damaging	0.73
R7732:Brd4	UTSW	17	32221412	missense	unknown
R7750:Brd4	UTSW	17	32213547	missense	unknown
R7756:Brd4	UTSW	17	32198982	missense	unknown
R7758:Brd4	UTSW	17	32198982	missense	unknown
R7779:Brd4	UTSW	17	32212936	missense	probably benign	0.03
R8214:Brd4	UTSW	17	32212947	missense	probably benign	0.19
R8405:Brd4	UTSW	17	32229531	missense	unknown
R9675:Brd4	UTSW	17	32214812	missense	unknown
X0064:Brd4	UTSW	17	32201127	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGGCTTCTGCACATAAAACC -3'
(R):5'- GCTCATGGCCTAACACTTACTAAG -3'

Sequencing Primer
(F):5'- TGGCTTCTGCACATAAAACCAGATTC -3'
(R):5'- TGGCCTAACACTTACTAAGAACCCTC -3'

Posted On

2015-06-20