Incidental Mutation 'R4866:Brpf1'
ID 374906
Institutional Source Beutler Lab
Gene Symbol Brpf1
Ensembl Gene ENSMUSG00000001632
Gene Name bromodomain and PHD finger containing, 1
Synonyms 4833438B11Rik, 4930540D11Rik
MMRRC Submission 042476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4866 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113284098-113301821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113299431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1120 (V1120I)
Ref Sequence ENSEMBL: ENSMUSP00000108747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000204198] [ENSMUST00000203577] [ENSMUST00000204626] [ENSMUST00000136263] [ENSMUST00000204834]
AlphaFold B2RRD7
Predicted Effect probably benign
Transcript: ENSMUST00000032406
SMART Domains Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 141 4e-38 PFAM
ENDO3c 146 316 4.84e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113117
AA Change: V1154I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: V1154I

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 possibly damaging
Transcript: ENSMUST00000113119
AA Change: V1155I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: V1155I

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 possibly damaging
Transcript: ENSMUST00000113121
AA Change: V1127I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: V1127I

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: V1120I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: V1120I

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: ENSMUST00000129871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131594
Predicted Effect probably benign
Transcript: ENSMUST00000204198
AA Change: V1026I

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: V1026I

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 possibly damaging
Transcript: ENSMUST00000203577
AA Change: V1160I

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: V1160I

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 possibly damaging
Transcript: ENSMUST00000204626
AA Change: V1126I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: V1126I

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 benign
Transcript: ENSMUST00000136263
SMART Domains Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 130 3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156734
Predicted Effect probably benign
Transcript: ENSMUST00000204834
SMART Domains Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 134 1.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203721
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 99% (79/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Abcc5 A T 16: 20,241,182 (GRCm39) M1K probably null Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Apoa2 T C 1: 171,053,369 (GRCm39) probably null Het
Atad1 A T 19: 32,679,964 (GRCm39) H79Q probably benign Het
Atp8a2 T C 14: 59,928,916 (GRCm39) D1046G probably damaging Het
Bcam A G 7: 19,499,397 (GRCm39) Y209H probably benign Het
Catsperb G A 12: 101,474,208 (GRCm39) C302Y probably damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Ccdc60 T C 5: 116,310,549 (GRCm39) D171G probably damaging Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdan1 C A 2: 120,561,928 (GRCm39) probably benign Het
Cdk5rap1 C T 2: 154,212,876 (GRCm39) probably null Het
Cfap410 T A 10: 77,817,413 (GRCm39) probably null Het
Cfap65 T C 1: 74,964,716 (GRCm39) D479G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cog6 G A 3: 52,918,019 (GRCm39) T173I probably benign Het
Cts6 T A 13: 61,350,090 (GRCm39) probably null Het
Cyp11a1 G A 9: 57,933,380 (GRCm39) V413M probably damaging Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Dclre1b A T 3: 103,715,412 (GRCm39) Y29N probably damaging Het
Depdc1a T A 3: 159,221,764 (GRCm39) I236K probably damaging Het
Dhx36 A T 3: 62,380,198 (GRCm39) Y833N probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Elovl3 A G 19: 46,120,603 (GRCm39) E32G possibly damaging Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Fcrl2 A T 3: 87,170,773 (GRCm39) C4S possibly damaging Het
Galnt16 T C 12: 80,630,851 (GRCm39) Y310H probably damaging Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gspt1 C T 16: 11,040,529 (GRCm39) R593H possibly damaging Het
Hmcn2 A T 2: 31,279,403 (GRCm39) T1802S possibly damaging Het
Igha A G 12: 113,223,129 (GRCm39) V166A probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Katnb1 T C 8: 95,824,132 (GRCm39) S471P possibly damaging Het
Kazn A G 4: 141,832,216 (GRCm39) F661S unknown Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Lgr5 C T 10: 115,288,590 (GRCm39) V661I probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Mapk10 T C 5: 103,111,391 (GRCm39) D351G probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mios T G 6: 8,214,857 (GRCm39) F18V probably damaging Het
Mllt6 A G 11: 97,565,285 (GRCm39) D575G probably damaging Het
Mmp10 G A 9: 7,508,190 (GRCm39) V439M probably damaging Het
Myh4 A G 11: 67,139,453 (GRCm39) D590G probably benign Het
Ndufs2 C T 1: 171,074,618 (GRCm39) G14R probably benign Het
Or10ad1b T A 15: 98,125,371 (GRCm39) I52F probably damaging Het
Or51a7 A T 7: 102,614,927 (GRCm39) M207L probably benign Het
Or56a4 T C 7: 104,806,514 (GRCm39) Y125C possibly damaging Het
Or8g26 A G 9: 39,096,367 (GRCm39) K298E probably damaging Het
Plau G T 14: 20,887,872 (GRCm39) V39L probably benign Het
Ppp3cb A G 14: 20,573,911 (GRCm39) C275R probably damaging Het
Ppp4r4 T G 12: 103,566,706 (GRCm39) M51R possibly damaging Het
Prr5 A G 15: 84,626,105 (GRCm39) Y60C probably damaging Het
Ptprt T C 2: 161,402,159 (GRCm39) D1023G probably damaging Het
Raly T A 2: 154,703,816 (GRCm39) V129E probably damaging Het
Rsph10b A G 5: 143,885,347 (GRCm39) E249G probably benign Het
Sart1 A C 19: 5,432,248 (GRCm39) L577W probably damaging Het
Senp1 T C 15: 97,964,729 (GRCm39) E189G possibly damaging Het
Slc22a2 G T 17: 12,803,316 (GRCm39) C50F probably damaging Het
Spem1 A T 11: 69,711,755 (GRCm39) V303E probably damaging Het
Tgfb3 A G 12: 86,124,588 (GRCm39) V40A possibly damaging Het
Ttl T C 2: 128,923,147 (GRCm39) S163P probably damaging Het
Ttll9 C A 2: 152,844,920 (GRCm39) N429K probably benign Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Zfhx2 A G 14: 55,302,993 (GRCm39) S1664P possibly damaging Het
Zfp51 T A 17: 21,682,012 (GRCm39) D70E possibly damaging Het
Zfp592 T A 7: 80,691,607 (GRCm39) V1262E probably damaging Het
Zfp595 C A 13: 67,465,760 (GRCm39) G168C probably damaging Het
Zswim9 A T 7: 12,995,095 (GRCm39) S354T probably damaging 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
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
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'- AGAGATCCCAGTCAGTTTTCC -3'
(R):5'- GCTGCCACATTACAGATGGC -3'

Sequencing Primer
(F):5'- GCACCCTAGGTTCTGAAATAATATGG -3'
(R):5'- CTGTATACATCTGTGGCTTTAAGTC -3'
Posted On 2016-03-17