Mutagenetix > Incidental Mutation

Incidental Mutation 'R2413:Brpf3'

250075

Institutional Source

Beutler Lab

Gene Symbol

Brpf3

Ensembl Gene

ENSMUSG00000063952

Gene Name

bromodomain and PHD finger containing, 3

Synonyms

MMRRC Submission

040377-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

R2413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29020088-29057763 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 29024924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004985]

AlphaFold

B2KF05

Predicted Effect

probably benign
Transcript: ENSMUST00000004985

SMART Domains

Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952

Domain	Start	End	E-Value	Type
Pfam:EPL1	48	194	8.4e-38	PFAM
PHD	214	260	7.07e-5	SMART
PHD	324	387	4.74e-6	SMART
low complexity region	405	436	N/A	INTRINSIC
Blast:BROMO	491	534	7e-21	BLAST
low complexity region	558	577	N/A	INTRINSIC
BROMO	586	694	4.93e-39	SMART
low complexity region	777	792	N/A	INTRINSIC
low complexity region	813	823	N/A	INTRINSIC
PWWP	1073	1156	2.07e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156029

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout does not result in any obvious neurological, behavioral, developmental, histological, hematological, survival or reproductive phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,036,446 (GRCm39)	A168S	probably benign	Het
Aspm	A	C	1: 139,405,495 (GRCm39)	I1461L	probably damaging	Het
Bcas3	C	T	11: 85,422,681 (GRCm39)	L517F	probably damaging	Het
Cfap74	A	C	4: 155,503,081 (GRCm39)	R24S	possibly damaging	Het
Clec1a	T	A	6: 129,412,218 (GRCm39)	S51C	probably damaging	Het
Cyp2c40	G	T	19: 39,792,331 (GRCm39)	C204*	probably null	Het
Dgki	C	A	6: 36,824,408 (GRCm39)	R1040L	possibly damaging	Het
F830016B08Rik	T	A	18: 60,433,365 (GRCm39)	Y149*	probably null	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Frmpd1	A	T	4: 45,278,969 (GRCm39)	T565S	probably benign	Het
Heatr5b	A	T	17: 79,064,290 (GRCm39)		probably null	Het
Ipcef1	G	A	10: 6,885,225 (GRCm39)	P92S	probably damaging	Het
Kctd12	T	A	14: 103,219,603 (GRCm39)	I92F	probably damaging	Het
Kntc1	C	T	5: 123,902,212 (GRCm39)	T285I	probably benign	Het
Lipo2	A	T	19: 33,728,657 (GRCm39)	N32K	probably damaging	Het
Mier3	T	C	13: 111,851,662 (GRCm39)		probably benign	Het
Myd88	T	C	9: 119,166,484 (GRCm39)	T277A	probably benign	Het
Myo3a	T	A	2: 22,467,924 (GRCm39)	Y1331N	probably benign	Het
Neb	C	A	2: 52,100,644 (GRCm39)	W4422L	probably damaging	Het
Nfasc	A	G	1: 132,523,243 (GRCm39)	S1019P	probably damaging	Het
Npepps	T	C	11: 97,131,792 (GRCm39)	E354G	probably damaging	Het
Ntrk2	G	T	13: 59,022,226 (GRCm39)	R427L	possibly damaging	Het
Or51g1	A	G	7: 102,634,009 (GRCm39)	S121P	probably damaging	Het
Ptprd	T	A	4: 76,051,437 (GRCm39)	D262V	probably damaging	Het
Serpina9	C	T	12: 103,967,485 (GRCm39)		probably null	Het
Setd2	A	G	9: 110,376,572 (GRCm39)	E129G	probably damaging	Het
Slc29a1	A	G	17: 45,896,643 (GRCm39)	L444P	probably damaging	Het
Synj2	C	A	17: 6,078,849 (GRCm39)	P217T	probably damaging	Het
Tex52	T	C	6: 128,356,871 (GRCm39)	L188P	probably damaging	Het
Tmem63a	A	G	1: 180,788,640 (GRCm39)	M326V	probably benign	Het
Tnxb	A	G	17: 34,937,252 (GRCm39)	T2900A	probably damaging	Het

Other mutations in Brpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Brpf3	APN	17	29,055,674 (GRCm39)	utr 3 prime	probably benign
IGL01397:Brpf3	APN	17	29,036,606 (GRCm39)	missense	probably benign	0.22
IGL01608:Brpf3	APN	17	29,040,491 (GRCm39)	missense	probably benign	0.00
IGL02073:Brpf3	APN	17	29,026,370 (GRCm39)	missense	probably benign
IGL02540:Brpf3	APN	17	29,047,328 (GRCm39)	missense	probably damaging	1.00
IGL02838:Brpf3	APN	17	29,054,758 (GRCm39)	missense	probably benign	0.19
IGL02888:Brpf3	APN	17	29,047,365 (GRCm39)	missense	probably damaging	1.00
IGL02969:Brpf3	APN	17	29,040,279 (GRCm39)	missense	probably benign	0.05
IGL03036:Brpf3	APN	17	29,043,022 (GRCm39)	missense	possibly damaging	0.89
IGL03084:Brpf3	APN	17	29,054,751 (GRCm39)	missense	probably damaging	0.98
R0448:Brpf3	UTSW	17	29,025,010 (GRCm39)	missense	probably benign	0.10
R0898:Brpf3	UTSW	17	29,025,964 (GRCm39)	missense	possibly damaging	0.65
R1268:Brpf3	UTSW	17	29,055,530 (GRCm39)	missense	probably damaging	0.98
R1639:Brpf3	UTSW	17	29,043,042 (GRCm39)	critical splice donor site	probably null
R1754:Brpf3	UTSW	17	29,040,297 (GRCm39)	missense	probably benign	0.00
R1867:Brpf3	UTSW	17	29,026,342 (GRCm39)	missense	probably benign
R1954:Brpf3	UTSW	17	29,025,533 (GRCm39)	missense	probably benign
R2000:Brpf3	UTSW	17	29,040,531 (GRCm39)	missense	probably benign	0.20
R2064:Brpf3	UTSW	17	29,040,338 (GRCm39)	missense	probably benign
R2209:Brpf3	UTSW	17	29,047,394 (GRCm39)	missense	probably damaging	0.98
R3977:Brpf3	UTSW	17	29,026,016 (GRCm39)	missense	possibly damaging	0.49
R4067:Brpf3	UTSW	17	29,040,233 (GRCm39)	missense	probably benign
R4291:Brpf3	UTSW	17	29,042,949 (GRCm39)	missense	probably benign	0.00
R4369:Brpf3	UTSW	17	29,055,594 (GRCm39)	missense	probably damaging	1.00
R4371:Brpf3	UTSW	17	29,055,594 (GRCm39)	missense	probably damaging	1.00
R4741:Brpf3	UTSW	17	29,036,758 (GRCm39)	missense	possibly damaging	0.50
R4773:Brpf3	UTSW	17	29,040,233 (GRCm39)	missense	probably benign	0.00
R4824:Brpf3	UTSW	17	29,025,460 (GRCm39)	missense	probably benign
R5360:Brpf3	UTSW	17	29,029,536 (GRCm39)	missense	probably benign
R5923:Brpf3	UTSW	17	29,025,610 (GRCm39)	missense	possibly damaging	0.90
R6181:Brpf3	UTSW	17	29,029,555 (GRCm39)	missense	probably damaging	1.00
R6278:Brpf3	UTSW	17	29,040,258 (GRCm39)	missense	probably benign	0.00
R6702:Brpf3	UTSW	17	29,029,633 (GRCm39)	missense	probably benign	0.01
R6884:Brpf3	UTSW	17	29,050,324 (GRCm39)	missense	probably benign	0.03
R6920:Brpf3	UTSW	17	29,042,970 (GRCm39)	missense	probably benign	0.34
R6976:Brpf3	UTSW	17	29,054,751 (GRCm39)	missense	probably damaging	0.98
R7099:Brpf3	UTSW	17	29,025,611 (GRCm39)	missense	probably benign	0.06
R7108:Brpf3	UTSW	17	29,036,099 (GRCm39)	missense	probably benign	0.01
R7193:Brpf3	UTSW	17	29,055,665 (GRCm39)	makesense	probably null
R7316:Brpf3	UTSW	17	29,033,660 (GRCm39)	missense	probably damaging	1.00
R7326:Brpf3	UTSW	17	29,025,267 (GRCm39)	missense	probably benign	0.00
R7403:Brpf3	UTSW	17	29,040,330 (GRCm39)	missense	probably benign
R7666:Brpf3	UTSW	17	29,029,546 (GRCm39)	missense	possibly damaging	0.83
R7686:Brpf3	UTSW	17	29,025,908 (GRCm39)	missense	probably damaging	0.98
R7691:Brpf3	UTSW	17	29,025,805 (GRCm39)	missense	probably damaging	1.00
R8054:Brpf3	UTSW	17	29,055,571 (GRCm39)	missense	probably damaging	1.00
R8165:Brpf3	UTSW	17	29,025,248 (GRCm39)	missense	probably benign	0.01
R8200:Brpf3	UTSW	17	29,025,248 (GRCm39)	missense	probably benign	0.01
R8698:Brpf3	UTSW	17	29,037,436 (GRCm39)	missense	probably damaging	0.99
R8722:Brpf3	UTSW	17	29,029,510 (GRCm39)	missense	probably benign	0.42
R8738:Brpf3	UTSW	17	29,040,214 (GRCm39)	missense	probably benign
R9044:Brpf3	UTSW	17	29,025,871 (GRCm39)	missense	possibly damaging	0.90
R9250:Brpf3	UTSW	17	29,054,788 (GRCm39)	missense	probably damaging	1.00
R9349:Brpf3	UTSW	17	29,040,276 (GRCm39)	missense	probably benign	0.00
R9496:Brpf3	UTSW	17	29,040,453 (GRCm39)	missense	probably benign
R9564:Brpf3	UTSW	17	29,026,152 (GRCm39)	missense	probably benign
R9649:Brpf3	UTSW	17	29,037,597 (GRCm39)	missense	probably benign
R9720:Brpf3	UTSW	17	29,026,330 (GRCm39)	missense	probably benign	0.13
Z1177:Brpf3	UTSW	17	29,040,452 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCGTGTGAATGCTTTAGAG -3'
(R):5'- AAATGCTGATCCGATGTAGGC -3'

Sequencing Primer
(F):5'- TAGAGCAACTGTTCTCAACCTGTGG -3'
(R):5'- ATGTAGGCGGCCATCGATGTC -3'

Posted On

2014-11-12