Mutagenetix > Incidental Mutation

Incidental Mutation 'R6224:Brd1'

504220

Institutional Source

Beutler Lab

Gene Symbol

Brd1

Ensembl Gene

ENSMUSG00000022387

Gene Name

bromodomain containing 1

Synonyms

1110059H06Rik

MMRRC Submission

044355-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88571237-88618436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88572558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1171 (M1171K)

Ref Sequence

ENSEMBL: ENSMUSP00000105007 (fasta)

Gene Model

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

AlphaFold

G5E8P1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109380
AA Change: M1040K

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: M1040K

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

possibly damaging
Transcript: ENSMUST00000109381
AA Change: M1171K

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: M1171K

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

Meta Mutation Damage Score

0.3472

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	C	11: 99,728,840 (GRCm39)	M1R	probably null	Het
4930505A04Rik	A	C	11: 30,404,815 (GRCm39)	N29K	probably benign	Het
Adamtsl4	T	C	3: 95,589,039 (GRCm39)	Y464C	probably damaging	Het
Asgr2	T	C	11: 69,989,072 (GRCm39)	V172A	probably damaging	Het
Atad1	T	C	19: 32,676,028 (GRCm39)	Y132C	probably damaging	Het
Bpifa6	G	A	2: 153,829,073 (GRCm39)	R200H	probably damaging	Het
Cadm2	A	T	16: 66,461,281 (GRCm39)	L392Q	probably damaging	Het
Ccdc183	C	T	2: 25,500,594 (GRCm39)	E333K	possibly damaging	Het
Cenpe	T	C	3: 134,949,536 (GRCm39)	I1335T	possibly damaging	Het
Cpxm2	T	C	7: 131,745,460 (GRCm39)	N122D	probably benign	Het
Crls1	T	A	2: 132,691,770 (GRCm39)		probably null	Het
Cyp46a1	T	C	12: 108,327,819 (GRCm39)	F460S	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcps	T	A	9: 35,047,777 (GRCm39)	T128S	probably benign	Het
Dcun1d3	A	T	7: 119,458,714 (GRCm39)	L107*	probably null	Het
Eml1	T	C	12: 108,480,767 (GRCm39)	F397S	probably damaging	Het
Fanca	T	A	8: 124,032,020 (GRCm39)	H348L	possibly damaging	Het
Foxo1	T	A	3: 52,253,093 (GRCm39)	S419T	probably benign	Het
Gli3	T	C	13: 15,899,730 (GRCm39)	V1039A	probably benign	Het
Gng14	A	T	8: 85,794,220 (GRCm39)	*73R	probably null	Het
Gp6	A	T	7: 4,397,211 (GRCm39)	F75I	probably benign	Het
Gpha2	T	A	19: 6,277,142 (GRCm39)	I81N	possibly damaging	Het
Gspt1	C	A	16: 11,042,406 (GRCm39)	V493L	probably benign	Het
Igsf10	C	A	3: 59,232,931 (GRCm39)	C1934F	probably damaging	Het
Irgm1	T	C	11: 48,757,713 (GRCm39)	T49A	probably benign	Het
Klc4	A	G	17: 46,950,988 (GRCm39)	I207T	possibly damaging	Het
Krt1	A	T	15: 101,758,702 (GRCm39)	V154D	possibly damaging	Het
Lama1	T	C	17: 68,109,982 (GRCm39)	V2201A	possibly damaging	Het
Lilrb4a	T	A	10: 51,367,745 (GRCm39)	Y96N	probably damaging	Het
Lrfn2	A	G	17: 49,403,379 (GRCm39)	T501A	probably damaging	Het
Lrriq1	A	G	10: 103,051,618 (GRCm39)	I378T	probably damaging	Het
Mphosph8	T	C	14: 56,905,810 (GRCm39)	M1T	probably null	Het
Nsd1	T	C	13: 55,460,945 (GRCm39)	S2391P	possibly damaging	Het
Ogdhl	G	A	14: 32,064,018 (GRCm39)	G647D	probably benign	Het
Or5p57	T	C	7: 107,665,949 (GRCm39)	I19V	probably benign	Het
Or6c76b	A	G	10: 129,693,061 (GRCm39)	K225E	probably benign	Het
Pbrm1	T	A	14: 30,772,068 (GRCm39)	H387Q	probably benign	Het
Pdgfrb	C	A	18: 61,215,011 (GRCm39)	Y1013*	probably null	Het
Pitrm1	T	C	13: 6,615,090 (GRCm39)	V562A	probably damaging	Het
Pnpla8	T	C	12: 44,329,811 (GRCm39)	V121A	possibly damaging	Het
Psd4	T	C	2: 24,291,569 (GRCm39)	L639P	probably damaging	Het
Psmc3	G	T	2: 90,884,975 (GRCm39)	R47L	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sesn2	A	G	4: 132,229,881 (GRCm39)	V50A	probably benign	Het
Skic3	C	T	13: 76,266,410 (GRCm39)	T219M	probably benign	Het
Slc6a16	G	A	7: 44,910,572 (GRCm39)	G377S	probably damaging	Het
Slitrk1	A	G	14: 109,149,454 (GRCm39)	F419S	probably damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,854,134 (GRCm39)		probably benign	Homo
Tgoln1	A	T	6: 72,592,984 (GRCm39)	D165E	possibly damaging	Het
Tmprss15	T	A	16: 78,821,266 (GRCm39)	T492S	probably benign	Het
Zc3h13	T	A	14: 75,574,849 (GRCm39)	M1565K	probably damaging	Het
Zcwpw1	T	C	5: 137,810,298 (GRCm39)	V358A	possibly damaging	Het
Zfp607a	A	G	7: 27,578,007 (GRCm39)	H359R	probably damaging	Het
Zzef1	T	A	11: 72,746,209 (GRCm39)	V837E	probably damaging	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
R5546:Brd1	UTSW	15	88,585,325 (GRCm39)	missense	probably benign	0.00
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
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'- TGGAAGTGAAACCTCCCCTC -3'
(R):5'- ACACCGAGTATGAGCTGGTG -3'

Sequencing Primer
(F):5'- TTAAAGAACTACGCCTAGAAAACCAG -3'
(R):5'- AGCTGGTGGTTCTTATGCTCTGAC -3'

Posted On

2018-02-28