Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Brd4'

481345

Institutional Source

Beutler Lab

Gene Symbol

Brd4

Ensembl Gene

ENSMUSG00000024002

Gene Name

bromodomain containing 4

Synonyms

HUNK1, MCAP, WI-11513

MMRRC Submission

044161-MU

Accession Numbers

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32196274-32284722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32198726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000155477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003726] [ENSMUST00000119123] [ENSMUST00000121285] [ENSMUST00000230858]

AlphaFold

Q9ESU6

Predicted Effect

unknown
Transcript: ENSMUST00000003726
AA Change: D1215G

SMART Domains

Protein: ENSMUSP00000003726
Gene: ENSMUSG00000024002
AA Change: D1215G

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: ENSMUST00000119123
AA Change: D1214G

SMART Domains

Protein: ENSMUSP00000113197
Gene: ENSMUSG00000024002
AA Change: D1214G

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: ENSMUST00000121285
AA Change: D1214G

SMART Domains

Protein: ENSMUSP00000113070
Gene: ENSMUSG00000024002
AA Change: D1214G

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

noncoding transcript
Transcript: ENSMUST00000229020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230565

Predicted Effect

probably benign
Transcript: ENSMUST00000230858
AA Change: D124G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	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
R4273:Brd4	UTSW	17	32214782	missense	probably benign
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
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'- CAGGTCCTATATAGGCAAAGGTC -3'
(R):5'- CACCAATCATTCGCAGCGAG -3'

Sequencing Primer
(F):5'- TCCTATATAGGCAAAGGTCAAGAGGC -3'
(R):5'- ATTCGCAGCGAGCCTTTCAG -3'

Posted On

2017-06-26