Mutagenetix > Incidental Mutation

Incidental Mutation 'R4956:Brd1'

381601

Institutional Source

Beutler Lab

Gene Symbol

Brd1

Ensembl Gene

ENSMUSG00000022387

Gene Name

bromodomain containing 1

Synonyms

1110059H06Rik

MMRRC Submission

042553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88571237-88618436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88614316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 193 (F193Y)

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 damaging
Transcript: ENSMUST00000109380
AA Change: F193Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105006
Gene: ENSMUSG00000022387
AA Change: F193Y

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 damaging
Transcript: ENSMUST00000109381
AA Change: F193Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105007
Gene: ENSMUSG00000022387
AA Change: F193Y

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

0.6550

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,672,816 (GRCm39)	K866E	probably damaging	Het
Afap1l2	T	C	19: 56,931,879 (GRCm39)	M49V	probably benign	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,599,643 (GRCm39)	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,764,501 (GRCm39)	C43R	probably damaging	Het
Axin2	T	C	11: 108,833,904 (GRCm39)	V617A	probably damaging	Het
Bltp3a	T	A	17: 28,108,958 (GRCm39)		probably null	Het
Cdc27	T	C	11: 104,420,221 (GRCm39)	S141G	probably damaging	Het
Chst9	A	T	18: 15,851,045 (GRCm39)	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,079,233 (GRCm39)	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,216,354 (GRCm39)	D416E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407 (GRCm39)	T430A	possibly damaging	Het
Enah	G	A	1: 181,745,854 (GRCm39)	T401I	probably damaging	Het
Esp38	T	G	17: 40,266,053 (GRCm39)	I54R	probably damaging	Het
Ffar4	C	T	19: 38,086,028 (GRCm39)	R152W	probably benign	Het
Flvcr1	A	G	1: 190,758,383 (GRCm39)		probably benign	Het
Fzd9	G	A	5: 135,278,796 (GRCm39)	A363V	probably damaging	Het
Gadl1	T	A	9: 115,869,987 (GRCm39)	I451N	probably benign	Het
Hmg20a	A	G	9: 56,388,948 (GRCm39)	T172A	probably damaging	Het
Ints1	G	A	5: 139,742,885 (GRCm39)	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,758,768 (GRCm39)	A699V	probably benign	Het
Ipo9	A	G	1: 135,331,960 (GRCm39)		probably null	Het
Klra17	A	G	6: 129,850,279 (GRCm39)	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530 (GRCm39)	D280E	probably benign	Het
Mycbp2	A	G	14: 103,524,675 (GRCm39)	F662L	probably damaging	Het
Ncor1	T	A	11: 62,231,431 (GRCm39)	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,173,909 (GRCm39)	K431*	probably null	Het
Nos1	A	G	5: 118,085,575 (GRCm39)	N1301S	probably benign	Het
Obp2b	A	G	2: 25,627,087 (GRCm39)	T7A	probably damaging	Het
Odc1	T	C	12: 17,597,958 (GRCm39)	I95T	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4c127	G	A	2: 89,833,187 (GRCm39)	V146M	probably benign	Het
Or5b97	C	T	19: 12,878,963 (GRCm39)	M60I	probably damaging	Het
Or6ae1	A	G	7: 139,741,993 (GRCm39)	I290T	possibly damaging	Het
Or6c1	A	T	10: 129,517,968 (GRCm39)	F213L	probably benign	Het
Pcif1	A	T	2: 164,731,610 (GRCm39)	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,067,780 (GRCm39)	L223R	probably damaging	Het
Plod3	A	G	5: 137,018,772 (GRCm39)	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,266,636 (GRCm39)	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166 (GRCm38)	V141I	probably benign	Het
Rcn1	A	T	2: 105,225,121 (GRCm39)	Y111*	probably null	Het
Rell2	G	A	18: 38,090,758 (GRCm39)	R145H	probably damaging	Het
Scaper	T	C	9: 55,745,426 (GRCm39)	K614R	probably damaging	Het
Scart2	A	G	7: 139,878,275 (GRCm39)	I1001V	probably benign	Het
Shbg	C	T	11: 69,508,045 (GRCm39)	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,244,247 (GRCm39)	P345L	possibly damaging	Het
Tchp	A	C	5: 114,857,681 (GRCm39)	E391D	probably damaging	Het
Timeless	A	G	10: 128,077,520 (GRCm39)	D200G	probably damaging	Het
Tspear	A	G	10: 77,700,601 (GRCm39)	T144A	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,624,820 (GRCm39)	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,268,436 (GRCm39)	T213I	probably benign	Het
Wtap	T	C	17: 13,186,423 (GRCm39)	T375A	probably benign	Het
Yipf2	T	G	9: 21,503,204 (GRCm39)	T88P	probably damaging	Het
Zfp382	T	A	7: 29,830,979 (GRCm39)	D89E	probably benign	Het
Zfp955b	C	T	17: 33,524,209 (GRCm39)		probably benign	Het
Zpr1	C	T	9: 46,185,961 (GRCm39)	T144I	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
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
R9351:Brd1	UTSW	15	88,614,307 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CAAAGCCAACCTCTGGGATC -3'
(R):5'- CCCTGTGTACTACAAGTTCATCG -3'

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

Posted On

2016-04-27