Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Brpf1'

169352

Institutional Source

Beutler Lab

Gene Symbol

Brpf1

Ensembl Gene

ENSMUSG00000001632

Gene Name

bromodomain and PHD finger containing, 1

Synonyms

4833438B11Rik, 4930540D11Rik

MMRRC Submission

039552-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113284098-113301821 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113299381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1103 (D1103G)

Ref Sequence

ENSEMBL: ENSMUSP00000108747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000204198] [ENSMUST00000203577] [ENSMUST00000204626] [ENSMUST00000204834] [ENSMUST00000136263]

AlphaFold

B2RRD7

Predicted Effect

probably benign
Transcript: ENSMUST00000032406

SMART Domains

Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	141	4e-38	PFAM
ENDO3c	146	316	4.84e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113117
AA Change: D1137G

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

SMART Domains

Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: D1137G

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 damaging
Transcript: ENSMUST00000113119
AA Change: D1138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: D1138G

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 damaging
Transcript: ENSMUST00000113121
AA Change: D1110G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: D1110G

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 damaging
Transcript: ENSMUST00000113122
AA Change: D1103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: D1103G

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: ENSMUST00000129871

Predicted Effect

probably benign
Transcript: ENSMUST00000204198
AA Change: D1009G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: D1009G

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 damaging
Transcript: ENSMUST00000203577
AA Change: D1143G

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

SMART Domains

Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: D1143G

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

probably damaging
Transcript: ENSMUST00000204626
AA Change: D1109G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: D1109G

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

noncoding transcript
Transcript: ENSMUST00000154350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138737

Predicted Effect

probably benign
Transcript: ENSMUST00000204834

SMART Domains

Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	134	1.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203721

Predicted Effect

probably benign
Transcript: ENSMUST00000136263

SMART Domains

Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	130	3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131594

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	probably 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
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
R4858:Brpf1	UTSW	6	113,294,639 (GRCm39)	missense	possibly damaging	0.56
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'- AGAGATCCCAGTCAGTTTTCCCACC -3'
(R):5'- GCTATTCTAAGTGTGTCGTCACCCC -3'

Sequencing Primer
(F):5'- AGTCAGTTTTCCCACCTCTCTC -3'
(R):5'- TGCTGCCACATTACAGATGG -3'

Posted On

2014-04-13