Incidental Mutation 'R5287:Brd7'
ID424410
Institutional Source Beutler Lab
Gene Symbol Brd7
Ensembl Gene ENSMUSG00000031660
Gene Namebromodomain containing 7
Synonymsbromodomain protein 75 kDa, CELTIX1, BP75
MMRRC Submission 042871-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.801) question?
Stock #R5287 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location88331039-88362194 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88357541 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 148 (Q148K)
Ref Sequence ENSEMBL: ENSMUSP00000034085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034085]
Predicted Effect probably damaging
Transcript: ENSMUST00000034085
AA Change: Q148K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660
AA Change: Q148K

DomainStartEndE-ValueType
low complexity region 51 68 N/A INTRINSIC
low complexity region 76 96 N/A INTRINSIC
BROMO 129 237 9.72e-38 SMART
Pfam:DUF3512 287 534 2.4e-93 PFAM
coiled coil region 535 564 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135471
Meta Mutation Damage Score 0.072 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cognitive behavior and dendrite morphology in the medial prefrontal cortex. Mice homozygous for a different knock-out allele die in utero prior to E16.5, showing fetal growth retardation and altered limb, blood vessel and organ development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik G T 17: 56,876,221 probably benign Het
Accs T C 2: 93,835,953 D463G probably damaging Het
Adcy8 C T 15: 64,716,152 V929I probably benign Het
Anp32a A T 9: 62,341,993 I16F possibly damaging Het
Arpin T C 7: 79,928,249 E144G probably damaging Het
Asb18 T C 1: 90,014,388 T64A probably benign Het
Asxl2 A G 12: 3,496,893 N559S probably benign Het
Brinp1 A G 4: 68,792,964 W336R probably benign Het
Btnl9 A G 11: 49,169,607 V438A probably benign Het
Cat T C 2: 103,474,360 T107A probably damaging Het
Catsperg2 T C 7: 29,697,838 Y1080C possibly damaging Het
Ccdc138 T A 10: 58,575,705 F632I possibly damaging Het
Cd46 C T 1: 195,062,411 V340I possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Ces1e T G 8: 93,208,612 D404A probably benign Het
Chd3 A T 11: 69,349,069 probably null Het
Clhc1 A G 11: 29,578,244 probably benign Het
Cops8 C T 1: 90,606,620 probably benign Het
Cpox G A 16: 58,675,286 G322D probably damaging Het
Csmd2 C T 4: 128,486,884 R2078C probably benign Het
Dnm1l A C 16: 16,333,868 V240G probably damaging Het
Fam109a A G 5: 121,852,731 E52G possibly damaging Het
Fam196b A T 11: 34,403,058 T367S probably benign Het
Fam208b G A 13: 3,575,744 S1402L probably benign Het
Fezf1 C T 6: 23,248,011 V22M probably benign Het
Gm6818 T G 7: 38,400,487 noncoding transcript Het
Hand2 C T 8: 57,322,045 L47F probably damaging Het
Itga7 C A 10: 128,943,158 R351S probably benign Het
Mmp8 G T 9: 7,567,506 A456S probably benign Het
Mroh5 TGGAG TG 15: 73,783,074 probably benign Het
Olfr1416 A T 1: 92,480,297 V108E possibly damaging Het
Opn4 T C 14: 34,592,937 T460A probably benign Het
Otog T C 7: 46,269,329 F943S probably damaging Het
Pcnx A T 12: 81,982,051 Y1668F probably damaging Het
Phf24 A T 4: 42,933,831 probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,582,757 probably null Het
Ppargc1a G A 5: 51,462,825 probably benign Het
Ptprd G A 4: 75,954,168 R1355* probably null Het
Ptprn2 A T 12: 117,211,862 M721L probably damaging Het
Sec23ip A G 7: 128,766,136 E624G probably benign Het
Sfmbt1 G A 14: 30,816,820 V799M probably damaging Het
Snrnp200 T C 2: 127,231,687 V1335A probably benign Het
Sp140 G A 1: 85,610,824 probably null Het
Spdye4c T C 2: 128,592,640 S46P possibly damaging Het
Syde1 T C 10: 78,590,037 R99G probably benign Het
T2 A T 17: 8,418,003 M57L probably benign Het
Tfap2e T C 4: 126,734,646 I172M probably benign Het
Tk1 A T 11: 117,816,541 V140E probably damaging Het
Tln2 G A 9: 67,242,359 T1192M probably damaging Het
Tmed8 C A 12: 87,174,183 A210S probably damaging Het
Tnip2 A G 5: 34,513,764 L45P probably damaging Het
Ttc3 T C 16: 94,459,844 V1396A probably benign Het
Ttn G T 2: 76,732,092 S28803Y probably damaging Het
Wdr90 A T 17: 25,861,467 probably benign Het
Zfp7 G A 15: 76,891,222 R488Q probably damaging Het
Other mutations in Brd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01947:Brd7 APN 8 88332875 unclassified probably benign
IGL02172:Brd7 APN 8 88351824 missense probably benign 0.41
IGL02441:Brd7 APN 8 88343590 missense probably damaging 1.00
R0241:Brd7 UTSW 8 88345850 missense probably benign 0.01
R0241:Brd7 UTSW 8 88345850 missense probably benign 0.01
R0845:Brd7 UTSW 8 88342767 nonsense probably null
R1613:Brd7 UTSW 8 88346950 missense probably benign 0.00
R1659:Brd7 UTSW 8 88333792 missense probably damaging 1.00
R1663:Brd7 UTSW 8 88358023 missense possibly damaging 0.87
R2237:Brd7 UTSW 8 88346913 missense probably benign 0.22
R2280:Brd7 UTSW 8 88342757 missense probably benign 0.00
R2916:Brd7 UTSW 8 88342780 missense probably damaging 0.98
R2917:Brd7 UTSW 8 88342780 missense probably damaging 0.98
R3770:Brd7 UTSW 8 88339407 critical splice donor site probably null
R4030:Brd7 UTSW 8 88332931 missense probably damaging 1.00
R5403:Brd7 UTSW 8 88357541 missense probably damaging 1.00
R6333:Brd7 UTSW 8 88345191 missense probably damaging 1.00
R7021:Brd7 UTSW 8 88347004 missense probably benign 0.00
R7072:Brd7 UTSW 8 88346987 missense probably benign
R7445:Brd7 UTSW 8 88361708 missense probably damaging 1.00
R7482:Brd7 UTSW 8 88361626 missense probably damaging 0.99
X0067:Brd7 UTSW 8 88343697 splice site probably null
Predicted Primers PCR Primer
(F):5'- CATAACGCCCTTCAAGTTGCC -3'
(R):5'- AGTTGGTATTCTCAGCCTTCAACAC -3'

Sequencing Primer
(F):5'- CCTTCAAGTTGCCAGTTAAAACAG -3'
(R):5'- GCCTTCAACACTTGTGTGATAAATTG -3'
Posted On2016-08-04