Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Brd1'

436312

Institutional Source

Beutler Lab

Gene Symbol

Brd1

Ensembl Gene

ENSMUSG00000022387

Gene Name

bromodomain containing 1

Synonyms

1110059H06Rik

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88571237-88618436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88585325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 836 (E836D)

Ref Sequence

ENSEMBL: ENSMUSP00000105007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088911] [ENSMUST00000109380] [ENSMUST00000109381]

AlphaFold

G5E8P1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000088911

SMART Domains

Protein: ENSMUSP00000086300
Gene: ENSMUSG00000022387

Domain	Start	End	E-Value	Type
Pfam:EPL1	46	196	1.3e-38	PFAM
PHD	216	262	3.17e-7	SMART
PHD	326	389	5.16e-7	SMART
low complexity region	415	436	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC
low complexity region	532	551	N/A	INTRINSIC
BROMO	560	668	8.59e-39	SMART
coiled coil region	704	726	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109380

SMART Domains

Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387

Domain	Start	End	E-Value	Type
Pfam:EPL1	46	196	3.3e-38	PFAM
PHD	216	262	3.17e-7	SMART
PHD	326	389	5.16e-7	SMART
low complexity region	415	436	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC
low complexity region	532	551	N/A	INTRINSIC
BROMO	560	668	8.59e-39	SMART
coiled coil region	704	726	N/A	INTRINSIC
low complexity region	836	869	N/A	INTRINSIC
PWWP	927	1010	2.25e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109381
AA Change: E836D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: E836D

Domain	Start	End	E-Value	Type
Pfam:EPL1	47	196	3.9e-37	PFAM
PHD	216	262	3.17e-7	SMART
PHD	326	389	5.16e-7	SMART
low complexity region	415	436	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC
low complexity region	532	551	N/A	INTRINSIC
BROMO	560	668	8.59e-39	SMART
coiled coil region	704	726	N/A	INTRINSIC
low complexity region	857	876	N/A	INTRINSIC
low complexity region	887	898	N/A	INTRINSIC
low complexity region	967	1000	N/A	INTRINSIC
PWWP	1058	1141	2.25e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150004

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schozophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal letahlity associated with severe growth retardation, abnormal lens, anemia, and impaired fetal hematopoiesis and erythropoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	Het

Other mutations in Brd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Brd1	APN	15	88,614,361 (GRCm39)	missense	probably benign	0.38
IGL00924:Brd1	APN	15	88,613,612 (GRCm39)	missense	possibly damaging	0.80
IGL01626:Brd1	APN	15	88,585,090 (GRCm39)	missense	probably damaging	1.00
IGL02569:Brd1	APN	15	88,598,132 (GRCm39)	missense	probably damaging	1.00
IGL02646:Brd1	APN	15	88,585,080 (GRCm39)	missense	probably damaging	1.00
IGL03130:Brd1	APN	15	88,572,577 (GRCm39)	missense	probably benign
IGL03343:Brd1	APN	15	88,591,454 (GRCm39)	missense	possibly damaging	0.89
spry	UTSW	15	88,572,558 (GRCm39)	missense	possibly damaging	0.47
R0089:Brd1	UTSW	15	88,585,401 (GRCm39)	missense	probably benign	0.06
R0112:Brd1	UTSW	15	88,614,586 (GRCm39)	missense	probably benign
R0165:Brd1	UTSW	15	88,613,980 (GRCm39)	missense	probably damaging	0.99
R0965:Brd1	UTSW	15	88,601,231 (GRCm39)	missense	probably damaging	1.00
R1195:Brd1	UTSW	15	88,585,014 (GRCm39)	missense	probably benign	0.12
R1195:Brd1	UTSW	15	88,585,014 (GRCm39)	missense	probably benign	0.12
R1195:Brd1	UTSW	15	88,585,014 (GRCm39)	missense	probably benign	0.12
R1534:Brd1	UTSW	15	88,573,866 (GRCm39)	missense	possibly damaging	0.68
R2245:Brd1	UTSW	15	88,574,063 (GRCm39)	critical splice donor site	probably null
R3611:Brd1	UTSW	15	88,585,147 (GRCm39)	missense	probably benign
R3751:Brd1	UTSW	15	88,573,821 (GRCm39)	missense	possibly damaging	0.83
R3752:Brd1	UTSW	15	88,573,821 (GRCm39)	missense	possibly damaging	0.83
R3753:Brd1	UTSW	15	88,573,821 (GRCm39)	missense	possibly damaging	0.83
R3801:Brd1	UTSW	15	88,601,243 (GRCm39)	missense	probably damaging	1.00
R4956:Brd1	UTSW	15	88,614,316 (GRCm39)	missense	probably damaging	1.00
R5382:Brd1	UTSW	15	88,613,767 (GRCm39)	missense	probably damaging	1.00
R5659:Brd1	UTSW	15	88,597,584 (GRCm39)	missense	probably benign	0.14
R5730:Brd1	UTSW	15	88,601,248 (GRCm39)	missense	probably benign	0.05
R5773:Brd1	UTSW	15	88,573,752 (GRCm39)	missense	probably benign	0.14
R6224:Brd1	UTSW	15	88,572,558 (GRCm39)	missense	possibly damaging	0.47
R6371:Brd1	UTSW	15	88,598,201 (GRCm39)	missense	probably benign
R7096:Brd1	UTSW	15	88,598,138 (GRCm39)	missense	probably damaging	1.00
R7722:Brd1	UTSW	15	88,613,762 (GRCm39)	missense	probably damaging	1.00
R8782:Brd1	UTSW	15	88,614,834 (GRCm39)	nonsense	probably null
R8869:Brd1	UTSW	15	88,614,729 (GRCm39)	missense	probably benign	0.09
R9079:Brd1	UTSW	15	88,598,153 (GRCm39)	missense	probably damaging	1.00
R9116:Brd1	UTSW	15	88,585,374 (GRCm39)	missense	possibly damaging	0.96
R9351:Brd1	UTSW	15	88,614,307 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGGCTTACACTTTTCGATTTGC -3'
(R):5'- ACACAGTGTTACCTGACGGC -3'

Sequencing Primer
(F):5'- GGCTTACACTTTTCGATTTGCAGAAG -3'
(R):5'- CCGCAGACCAATGTGTGTGATG -3'

Posted On

2016-10-24