Incidental Mutation 'R1484:Brpf1'
ID 163306
Institutional Source Beutler Lab
Gene Symbol Brpf1
Ensembl Gene ENSMUSG00000001632
Gene Name bromodomain and PHD finger containing, 1
Synonyms 4833438B11Rik, 4930540D11Rik
MMRRC Submission 039537-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R1484 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113284098-113301821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113292096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 381 (W381R)
Ref Sequence ENSEMBL: ENSMUSP00000145093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000203577] [ENSMUST00000204626] [ENSMUST00000204198]
AlphaFold B2RRD7
Predicted Effect probably damaging
Transcript: ENSMUST00000113117
AA Change: W381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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: W381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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: W381R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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: W381R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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: ENSMUST00000156734
Predicted Effect probably damaging
Transcript: ENSMUST00000203577
AA Change: W381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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: W381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000204198
AA Change: W381R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: W381R

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9674 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency 97% (85/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik A T 5: 26,684,776 (GRCm39) noncoding transcript Het
Acvr1 A T 2: 58,369,901 (GRCm39) V36E probably damaging Het
Aldh4a1 A G 4: 139,370,758 (GRCm39) I414V probably benign Het
Alox5 C T 6: 116,431,128 (GRCm39) C100Y probably damaging Het
Ano5 T A 7: 51,216,068 (GRCm39) D348E probably damaging Het
Arhgap30 G A 1: 171,230,839 (GRCm39) V199M probably damaging Het
Arl13b T A 16: 62,626,999 (GRCm39) Q234L probably benign Het
Atxn1 C A 13: 45,711,052 (GRCm39) E627* probably null Het
Bend3 T C 10: 43,386,197 (GRCm39) F197L probably benign Het
Brca1 A T 11: 101,420,638 (GRCm39) V190E possibly damaging Het
Brwd1 A C 16: 95,829,491 (GRCm39) probably null Het
C1s2 T C 6: 124,602,604 (GRCm39) I530V possibly damaging Het
C2cd3 C T 7: 100,089,397 (GRCm39) R1638W probably damaging Het
Capns1 T A 7: 29,893,511 (GRCm39) probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep126 G A 9: 8,100,554 (GRCm39) T660I possibly damaging Het
Cep295 A C 9: 15,246,080 (GRCm39) I744R probably damaging Het
Chd3 T C 11: 69,250,725 (GRCm39) E668G probably benign Het
Chek2 A G 5: 110,996,553 (GRCm39) T172A probably damaging Het
Col6a4 A G 9: 105,890,501 (GRCm39) probably null Het
Coq3 G A 4: 21,900,291 (GRCm39) V173I probably benign Het
Cyp4x1 A T 4: 114,970,098 (GRCm39) I343N probably damaging Het
Dnah7b T A 1: 46,176,703 (GRCm39) D774E probably benign Het
Dnai3 T C 3: 145,802,996 (GRCm39) D65G probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Esrra T C 19: 6,890,197 (GRCm39) Y209C probably damaging Het
Gpr149 A T 3: 62,502,592 (GRCm39) D421E probably benign Het
Gpr15 T C 16: 58,538,937 (GRCm39) N51D probably damaging Het
Gpr156 T C 16: 37,812,558 (GRCm39) V298A probably damaging Het
Hmcn2 G A 2: 31,236,507 (GRCm39) G350D probably damaging Het
Ifih1 A T 2: 62,440,902 (GRCm39) N421K probably benign Het
Ilvbl C A 10: 78,412,564 (GRCm39) T95K probably damaging Het
Itgb4 T A 11: 115,890,625 (GRCm39) D1104E probably benign Het
Katnip C A 7: 125,415,743 (GRCm39) probably benign Het
Lipf A T 19: 33,942,180 (GRCm39) M37L probably benign Het
Lyst T A 13: 13,852,775 (GRCm39) N2258K probably benign Het
Moxd1 A G 10: 24,099,758 (GRCm39) Y86C probably damaging Het
Muc5ac T C 7: 141,367,629 (GRCm39) probably null Het
Myo16 G A 8: 10,610,145 (GRCm39) R1162H probably damaging Het
Myo5c A T 9: 75,208,092 (GRCm39) N1609Y probably damaging Het
Nbeal1 T C 1: 60,240,098 (GRCm39) F155L probably damaging Het
Nek4 A T 14: 30,704,290 (GRCm39) M602L possibly damaging Het
Nek9 A G 12: 85,348,622 (GRCm39) S971P probably damaging Het
Nfya A T 17: 48,700,570 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,547 (GRCm39) N442I probably damaging Het
Nup42 A C 5: 24,383,075 (GRCm39) K200N probably benign Het
Or1e26 T A 11: 73,480,187 (GRCm39) I126L possibly damaging Het
Or4c111 G A 2: 88,843,713 (GRCm39) R232* probably null Het
Or7g32 G A 9: 19,389,423 (GRCm39) T38I probably damaging Het
Pcdh15 T A 10: 74,126,833 (GRCm39) I304N probably damaging Het
Pigo G C 4: 43,024,779 (GRCm39) P107A probably damaging Het
Plce1 C T 19: 38,693,783 (GRCm39) Q769* probably null Het
Plin2 C T 4: 86,575,481 (GRCm39) R356H probably benign Het
Ppp1r9a G T 6: 5,113,712 (GRCm39) E739* probably null Het
Ppp3cc G T 14: 70,478,397 (GRCm39) N268K probably damaging Het
Prkag3 T A 1: 74,779,919 (GRCm39) D472V probably damaging Het
Ptch2 A T 4: 116,968,046 (GRCm39) D846V probably damaging Het
Rhob A T 12: 8,549,388 (GRCm39) M82K probably damaging Het
Rps6kc1 T A 1: 190,531,672 (GRCm39) R777W possibly damaging Het
Sap130 T A 18: 31,844,380 (GRCm39) V850E probably damaging Het
Sema3a T G 5: 13,523,407 (GRCm39) N125K probably damaging Het
Sema5a A G 15: 32,460,431 (GRCm39) D64G probably damaging Het
Sgo2b T A 8: 64,384,507 (GRCm39) D163V possibly damaging Het
Slc15a1 A T 14: 121,728,651 (GRCm39) Y31* probably null Het
Smchd1 A T 17: 71,685,252 (GRCm39) M1392K probably benign Het
Sobp T A 10: 43,036,827 (GRCm39) N37I probably damaging Het
Spock3 G T 8: 63,673,739 (GRCm39) C142F probably damaging Het
Stx6 A C 1: 155,053,650 (GRCm39) S86R probably benign Het
Sult2a4 C A 7: 13,643,726 (GRCm39) M280I probably benign Het
Synm A T 7: 67,386,080 (GRCm39) D527E probably damaging Het
Tax1bp1 C T 6: 52,710,305 (GRCm39) R195W probably damaging Het
Themis2 A T 4: 132,519,796 (GRCm39) N76K possibly damaging Het
Tmem8b A G 4: 43,690,234 (GRCm39) T890A probably benign Het
Traf7 T A 17: 24,730,785 (GRCm39) H366L possibly damaging Het
Trim30c A T 7: 104,032,459 (GRCm39) V289D probably benign Het
Tsr1 T A 11: 74,792,914 (GRCm39) D407E probably damaging Het
Ubap2 G T 4: 41,235,593 (GRCm39) A33E probably damaging Het
Unc13d C A 11: 115,964,701 (GRCm39) R255L possibly damaging Het
Ush2a G T 1: 188,542,534 (GRCm39) G3367* probably null Het
Vmn1r229 T C 17: 21,034,791 (GRCm39) L12P probably damaging Het
Vmn2r27 C A 6: 124,177,474 (GRCm39) G510V probably damaging Het
Vps4b T C 1: 106,707,712 (GRCm39) E257G probably damaging Het
Vps72 T C 3: 95,026,462 (GRCm39) S136P probably damaging Het
Wdr36 T C 18: 32,976,938 (GRCm39) I181T possibly damaging Het
Wfikkn1 C T 17: 26,096,765 (GRCm39) A520T probably benign Het
Other mutations in Brpf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGATTGTGCTCTGTGCCCCAATAAG -3'
(R):5'- AGACTTGGCCTTGGCCTTCTTG -3'

Sequencing Primer
(F):5'- CCAATAAGGGTGGTGCCTTC -3'
(R):5'- TCACCCTCACTGTGGGATAG -3'
Posted On 2014-03-28