Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Brpf1'

374475

Institutional Source

Beutler Lab

Gene Symbol

Brpf1

Ensembl Gene

ENSMUSG00000001632

Gene Name

bromodomain and PHD finger containing, 1

Synonyms

4833438B11Rik, 4930540D11Rik

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113284098-113301821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113294639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 661 (V661A)

Ref Sequence

ENSEMBL: ENSMUSP00000108746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113117] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000113122] [ENSMUST00000203577] [ENSMUST00000204626] [ENSMUST00000204198] [ENSMUST00000204198]

AlphaFold

B2RRD7

Predicted Effect

probably benign
Transcript: ENSMUST00000113117

SMART Domains

Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	1e-35	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
low complexity region	1078	1090	N/A	INTRINSIC
PWWP	1115	1198	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113117

SMART Domains

Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	1e-35	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
low complexity region	1078	1090	N/A	INTRINSIC
PWWP	1115	1198	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113119

SMART Domains

Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	8.5e-39	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
low complexity region	1079	1091	N/A	INTRINSIC
PWWP	1116	1199	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113119

SMART Domains

Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	8.5e-39	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
low complexity region	1079	1091	N/A	INTRINSIC
PWWP	1116	1199	4.1e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113121
AA Change: V661A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: V661A

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
PWWP	1082	1165	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113122

SMART Domains

Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
PWWP	1081	1164	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113122

SMART Domains

Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
PWWP	1081	1164	4.1e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138737

Predicted Effect

probably benign
Transcript: ENSMUST00000203577
AA Change: V661A

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: V661A

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	5.1e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
low complexity region	1084	1096	N/A	INTRINSIC
PWWP	1121	1204	2.6e-44	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000204626
AA Change: V661A

SMART Domains

Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: V661A

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.9e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
PWWP	1087	1170	2.6e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204198

SMART Domains

Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.4e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1e-39	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	899	925	N/A	INTRINSIC
PWWP	987	1070	2.6e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204198

SMART Domains

Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.4e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1e-39	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	899	925	N/A	INTRINSIC
PWWP	987	1070	2.6e-44	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156734

Meta Mutation Damage Score

0.3554

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality around E9.5 and disrupts histone acetylation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	possibly damaging	Het

Other mutations in Brpf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Brpf1	APN	6	113,293,645 (GRCm39)	missense	probably damaging	0.99
IGL00697:Brpf1	APN	6	113,291,947 (GRCm39)	missense	probably damaging	1.00
IGL00823:Brpf1	APN	6	113,298,847 (GRCm39)	missense	probably benign	0.01
IGL00951:Brpf1	APN	6	113,299,514 (GRCm39)	missense	probably damaging	1.00
IGL01335:Brpf1	APN	6	113,296,298 (GRCm39)	missense	probably damaging	0.99
IGL01565:Brpf1	APN	6	113,293,611 (GRCm39)	missense	probably damaging	1.00
IGL02237:Brpf1	APN	6	113,287,336 (GRCm39)	missense	probably damaging	1.00
R1484:Brpf1	UTSW	6	113,292,096 (GRCm39)	missense	probably damaging	1.00
R1502:Brpf1	UTSW	6	113,299,381 (GRCm39)	missense	probably damaging	1.00
R1517:Brpf1	UTSW	6	113,296,050 (GRCm39)	missense	probably benign	0.17
R1525:Brpf1	UTSW	6	113,294,115 (GRCm39)	missense	probably damaging	1.00
R1773:Brpf1	UTSW	6	113,296,892 (GRCm39)	missense	possibly damaging	0.85
R1925:Brpf1	UTSW	6	113,296,891 (GRCm39)	missense	probably damaging	0.96
R2928:Brpf1	UTSW	6	113,299,007 (GRCm39)	missense	possibly damaging	0.95
R3900:Brpf1	UTSW	6	113,295,394 (GRCm39)	missense	probably benign	0.20
R4019:Brpf1	UTSW	6	113,287,243 (GRCm39)	missense	probably damaging	0.97
R4630:Brpf1	UTSW	6	113,286,867 (GRCm39)	missense	probably damaging	1.00
R4754:Brpf1	UTSW	6	113,297,408 (GRCm39)	missense	possibly damaging	0.92
R4757:Brpf1	UTSW	6	113,292,072 (GRCm39)	missense	probably damaging	1.00
R4866:Brpf1	UTSW	6	113,299,431 (GRCm39)	missense	probably damaging	0.97
R5073:Brpf1	UTSW	6	113,287,215 (GRCm39)	missense	probably damaging	0.97
R5197:Brpf1	UTSW	6	113,296,902 (GRCm39)	missense	possibly damaging	0.57
R7011:Brpf1	UTSW	6	113,295,427 (GRCm39)	missense	probably benign	0.00
R7585:Brpf1	UTSW	6	113,292,007 (GRCm39)	missense	possibly damaging	0.58
R7655:Brpf1	UTSW	6	113,291,835 (GRCm39)	missense	probably benign	0.02
R7656:Brpf1	UTSW	6	113,291,835 (GRCm39)	missense	probably benign	0.02
R7956:Brpf1	UTSW	6	113,297,493 (GRCm39)	missense	probably benign	0.16
R7994:Brpf1	UTSW	6	113,292,002 (GRCm39)	missense	probably damaging	1.00
R8008:Brpf1	UTSW	6	113,296,050 (GRCm39)	missense	probably benign	0.00
R8222:Brpf1	UTSW	6	113,286,999 (GRCm39)	missense	probably benign	0.03
R8725:Brpf1	UTSW	6	113,293,491 (GRCm39)	missense	probably damaging	1.00
R8727:Brpf1	UTSW	6	113,293,491 (GRCm39)	missense	probably damaging	1.00
R8968:Brpf1	UTSW	6	113,299,510 (GRCm39)	missense	probably damaging	1.00
R9518:Brpf1	UTSW	6	113,286,795 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GAGAAAAGCATGTTCCTAAGCC -3'
(R):5'- TCGAGGTGACACATGTAGCTC -3'

Sequencing Primer
(F):5'- TGTTCCTAAGCCAGCAAGG -3'
(R):5'- AGGTGACACATGTAGCTCAGTTC -3'

Posted On

2016-03-16