Incidental Mutation 'R4754:Brpf1'
ID 357804
Institutional Source Beutler Lab
Gene Symbol Brpf1
Ensembl Gene ENSMUSG00000001632
Gene Name bromodomain and PHD finger containing, 1
Synonyms 4833438B11Rik, 4930540D11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4754 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113284098-113301821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113297408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 876 (N876K)
Ref Sequence ENSEMBL: ENSMUSP00000144804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000203577] [ENSMUST00000204626] [ENSMUST00000204198]
AlphaFold B2RRD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000113117
AA Change: N970K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: N970K

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 benign
Transcript: ENSMUST00000113119
AA Change: N971K

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: N971K

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 benign
Transcript: ENSMUST00000113121
AA Change: N977K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: N977K

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 benign
Transcript: ENSMUST00000113122
AA Change: N970K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: N970K

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: ENSMUST00000131594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138737
Predicted Effect probably benign
Transcript: ENSMUST00000203577
AA Change: N976K

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: N976K

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 benign
Transcript: ENSMUST00000204626
AA Change: N976K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: N976K

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 possibly damaging
Transcript: ENSMUST00000204198
AA Change: N876K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: N876K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156734
Meta Mutation Damage Score 0.0656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (107/109)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,837 (GRCm39) Y63C probably damaging Het
Abcb4 C A 5: 8,960,717 (GRCm39) F266L probably damaging Het
Adam8 A T 7: 139,564,693 (GRCm39) I681N possibly damaging Het
Adgrf3 T A 5: 30,402,615 (GRCm39) probably null Het
Ang2 A G 14: 51,432,974 (GRCm39) V136A probably damaging Het
Ankar C T 1: 72,737,853 (GRCm39) G110R probably damaging Het
Ap3b1 T C 13: 94,540,468 (GRCm39) L130P probably damaging Het
Apc2 T G 10: 80,150,192 (GRCm39) W1749G probably benign Het
Asb2 T C 12: 103,290,096 (GRCm39) N565S possibly damaging Het
B3gnt7 C A 1: 86,233,279 (GRCm39) T58K probably benign Het
Bltp1 C T 3: 37,076,615 (GRCm39) Q3663* probably null Het
Ccdc157 T C 11: 4,098,994 (GRCm39) I69V possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh20 A T 1: 104,912,410 (GRCm39) I555F probably damaging Het
Cfap73 T C 5: 120,767,729 (GRCm39) D274G probably damaging Het
Chd5 T A 4: 152,462,203 (GRCm39) I1310N probably damaging Het
Ckap2 T A 8: 22,658,911 (GRCm39) I611F possibly damaging Het
Cpeb2 A G 5: 43,443,200 (GRCm39) I964V possibly damaging Het
Ctbp2 C A 7: 132,625,287 (GRCm39) probably null Het
Dhrs2 A T 14: 55,476,205 (GRCm39) I142F probably damaging Het
Dnah5 T A 15: 28,421,101 (GRCm39) probably null Het
Dst T C 1: 34,251,390 (GRCm39) S1822P probably damaging Het
Ect2 T C 3: 27,181,112 (GRCm39) K581E probably damaging Het
Edem1 C T 6: 108,818,658 (GRCm39) T222M probably damaging Het
Eif2ak1 A G 5: 143,838,621 (GRCm39) M592V probably damaging Het
Endou T G 15: 97,624,420 (GRCm39) D49A probably damaging Het
Ensa A G 3: 95,529,865 (GRCm39) probably benign Het
Evc2 G T 5: 37,544,375 (GRCm39) R708L probably damaging Het
Fam120b T A 17: 15,643,224 (GRCm39) C668S probably damaging Het
Fam135a A T 1: 24,067,835 (GRCm39) C798* probably null Het
Fam135b T C 15: 71,334,800 (GRCm39) D798G probably benign Het
Fshb A C 2: 106,887,627 (GRCm39) *131E probably null Het
G3bp2 C T 5: 92,202,768 (GRCm39) V441M possibly damaging Het
Galnt6 A T 15: 100,597,105 (GRCm39) F354I probably damaging Het
Gm1123 C A 9: 98,905,293 (GRCm39) probably null Het
Gm1123 A T 9: 98,905,294 (GRCm39) probably null Het
Gm15130 T C 2: 110,973,207 (GRCm39) N115S unknown Het
Gm7104 A G 12: 88,252,765 (GRCm39) noncoding transcript Het
Gm9762 A T 3: 78,873,728 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,756,173 (GRCm39) T505A probably damaging Het
Grip2 A G 6: 91,756,163 (GRCm39) V508A probably damaging Het
Haus4 A G 14: 54,787,349 (GRCm39) probably null Het
Herc1 T A 9: 66,408,488 (GRCm39) D4571E probably benign Het
Hnrnpk T A 13: 58,546,950 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,321 (GRCm39) Y23C probably damaging Het
Kansl2-ps A G 7: 72,322,881 (GRCm39) noncoding transcript Het
Kcnma1 T C 14: 23,413,904 (GRCm39) D833G probably damaging Het
Kmt2e A T 5: 23,687,439 (GRCm39) I430F possibly damaging Het
Lama2 C A 10: 26,994,527 (GRCm39) R1794L possibly damaging Het
Mcpt1 T A 14: 56,256,137 (GRCm39) F59I probably damaging Het
Mib2 G T 4: 155,739,822 (GRCm39) T783K possibly damaging Het
Nlrp4g T C 9: 124,349,788 (GRCm38) noncoding transcript Het
Nudt16l2 A T 9: 105,021,592 (GRCm39) F151L probably benign Het
Obscn T C 11: 58,926,869 (GRCm39) I6352V possibly damaging Het
Or2j6 C T 7: 139,980,072 (GRCm39) A296T probably damaging Het
Or4a72 A T 2: 89,405,391 (GRCm39) H226Q probably benign Het
Or4k1 T A 14: 50,377,490 (GRCm39) N202I possibly damaging Het
Or4k1 T G 14: 50,377,491 (GRCm39) N202H probably benign Het
Or52a5 T C 7: 103,426,875 (GRCm39) I226V probably benign Het
Or5b125-ps1 T A 19: 13,056,225 (GRCm39) noncoding transcript Het
Pcdh10 G A 3: 45,335,072 (GRCm39) R462H probably damaging Het
Pcdhga12 C A 18: 37,899,604 (GRCm39) N145K probably damaging Het
Pik3r6 T A 11: 68,435,601 (GRCm39) L613Q probably damaging Het
Pknox2 T C 9: 36,821,016 (GRCm39) D282G probably damaging Het
Plod2 T G 9: 92,488,584 (GRCm39) Y624* probably null Het
Prkd3 C A 17: 79,264,043 (GRCm39) V684F probably damaging Het
Ptpn1 T A 2: 167,816,080 (GRCm39) V198D probably damaging Het
Ptpn12 G T 5: 21,203,587 (GRCm39) P397Q probably benign Het
Rad1 C A 15: 10,493,212 (GRCm39) probably benign Het
Rasl11a A G 5: 146,783,825 (GRCm39) D90G probably benign Het
Rnf181 A G 6: 72,337,543 (GRCm39) probably benign Het
Ryr3 T C 2: 112,587,984 (GRCm39) I2652M possibly damaging Het
Siglecg C T 7: 43,061,295 (GRCm39) probably benign Het
Slc22a3 T C 17: 12,726,082 (GRCm39) S44G probably benign Het
Slc38a1 A T 15: 96,474,663 (GRCm39) F463I probably damaging Het
Smg1 A T 7: 117,755,954 (GRCm39) probably benign Het
Syk T C 13: 52,766,295 (GRCm39) probably benign Het
Tasor A T 14: 27,183,052 (GRCm39) I504L probably benign Het
Tbc1d5 T C 17: 51,107,193 (GRCm39) I454M probably benign Het
Tmed6 C A 8: 107,790,362 (GRCm39) D146Y probably damaging Het
Tmem132e A T 11: 82,335,677 (GRCm39) K828* probably null Het
Tmprss15 A T 16: 78,851,012 (GRCm39) S294T probably damaging Het
Trp53bp1 A G 2: 121,038,360 (GRCm39) S1493P probably damaging Het
Tshb A T 3: 102,685,491 (GRCm39) I46N probably damaging Het
Tspan11 T C 6: 127,915,183 (GRCm39) V99A probably benign Het
Ttn T C 2: 76,545,905 (GRCm39) T24176A probably benign Het
Vmn1r8 T C 6: 57,012,952 (GRCm39) M1T probably null Het
Vmn2r104 A T 17: 20,261,030 (GRCm39) Y464* probably null Het
Vmn2r110 T C 17: 20,816,458 (GRCm39) T22A probably benign Het
Vmn2r17 T A 5: 109,600,715 (GRCm39) I671K probably damaging Het
Zbtb21 T C 16: 97,752,466 (GRCm39) N606D probably damaging Het
Zfy2 A T Y: 2,121,477 (GRCm39) S139T probably benign Het
Zkscan17 G A 11: 59,393,851 (GRCm39) R156* probably null Het
Zp2 A G 7: 119,737,541 (GRCm39) V248A 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
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
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'- TAGAACTGCCCAGAGCTATCTCC -3'
(R):5'- TGAAATGGCTGCAACCCAAC -3'

Sequencing Primer
(F):5'- AGCTATCTCCGCTGGCCAAAG -3'
(R):5'- ACCTGTAAAGGCATCCTGC -3'
Posted On 2015-11-11