Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Brd1'

708088

Institutional Source

Beutler Lab

Gene Symbol

Brd1

Ensembl Gene

ENSMUSG00000022387

Gene Name

bromodomain containing 1

Synonyms

1110059H06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88571237-88618436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88614307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 196 (E196V)

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: E196V

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: E196V

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: E196V

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: E196V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (54/54)

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
1700113H08Rik	A	G	10: 87,066,068 (GRCm39)	T84A	probably benign	Het
Abca17	G	A	17: 24,510,751 (GRCm39)	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,169,929 (GRCm39)	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,236,228 (GRCm39)	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,575,011 (GRCm39)	N444S	probably damaging	Het
Ahnak	A	C	19: 8,985,232 (GRCm39)	D2172A	probably damaging	Het
Arhgef28	C	T	13: 98,130,576 (GRCm39)	D421N	probably benign	Het
Cabs1	A	G	5: 88,128,300 (GRCm39)	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,642,069 (GRCm39)	I25T	unknown	Het
Clgn	A	G	8: 84,153,218 (GRCm39)	R607G	possibly damaging	Het
Clp1	T	C	2: 84,554,195 (GRCm39)	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,975,185 (GRCm39)	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911 (GRCm39)	T16I	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,771 (GRCm39)	I411F	probably benign	Het
Epb41l5	A	G	1: 119,477,639 (GRCm39)	F711L	probably benign	Het
Esr1	G	A	10: 4,696,763 (GRCm39)	W204*	probably null	Het
Fat2	A	G	11: 55,172,127 (GRCm39)	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,054,068 (GRCm39)	E159G	probably damaging	Het
Gsto2	T	A	19: 47,874,608 (GRCm39)	C243S	possibly damaging	Het
Heg1	A	G	16: 33,545,867 (GRCm39)	H206R	probably benign	Het
Ifi203	A	G	1: 173,750,133 (GRCm39)	V862A	probably benign	Het
Ippk	C	T	13: 49,615,107 (GRCm39)	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,317 (GRCm39)	N61I	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kcnj12	C	T	11: 60,960,673 (GRCm39)	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Lars2	A	G	9: 123,265,366 (GRCm39)	Q474R	probably benign	Het
Lctl	T	C	9: 64,040,473 (GRCm39)	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,401,223 (GRCm39)	S590P	probably benign	Het
Mcf2l	G	T	8: 13,050,757 (GRCm39)	L337F	possibly damaging	Het
Mvp	A	G	7: 126,595,435 (GRCm39)	V225A	probably damaging	Het
Nfat5	T	A	8: 108,065,910 (GRCm39)	D241E	probably damaging	Het
Or6n2	T	A	1: 173,897,021 (GRCm39)	D52E	probably benign	Het
Pagr1a	A	T	7: 126,616,073 (GRCm39)	H7Q	probably damaging	Het
Parp8	G	T	13: 117,000,781 (GRCm39)	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,429,369 (GRCm39)	N90K	probably damaging	Het
Pde6h	A	G	6: 136,936,332 (GRCm39)	K25R	probably benign	Het
Prr35	G	A	17: 26,166,118 (GRCm39)	Q390*	probably null	Het
Psd3	C	A	8: 68,413,301 (GRCm39)	A410S	probably benign	Het
Pus10	A	G	11: 23,617,311 (GRCm39)	N8S	probably benign	Het
Rnf115	T	C	3: 96,695,994 (GRCm39)	L260S	probably damaging	Het
Sdsl	A	T	5: 120,601,159 (GRCm39)	Y38N	probably benign	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,047 (GRCm39)	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,816,900 (GRCm39)	V147I	probably benign	Het
Tmed3	A	T	9: 89,584,980 (GRCm39)	F92I	possibly damaging	Het
Tmprss15	T	C	16: 78,832,086 (GRCm39)	T357A	probably damaging	Het
Trbv14	A	T	6: 41,112,428 (GRCm39)	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,578,482 (GRCm39)	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,016,333 (GRCm39)	M266L	probably benign	Het
Wdr17	T	C	8: 55,143,057 (GRCm39)	I198V	probably benign	Het
Wdr27	G	A	17: 15,128,833 (GRCm39)	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,349,447 (GRCm39)	Y372*	probably null	Het
Zfp286	A	G	11: 62,670,801 (GRCm39)	V424A	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGCCAACCTCTGGGATCC -3'
(R):5'- CAAGTTCATCGAGAAGTCAGC -3'

Sequencing Primer
(F):5'- TGGGATCCACAGGGCACATAC -3'
(R):5'- TTCATCGAGAAGTCAGCCGAGG -3'

Posted On

2022-04-18