Incidental Mutation 'R0241:Brd7'
ID66191
Institutional Source Beutler Lab
Gene Symbol Brd7
Ensembl Gene ENSMUSG00000031660
Gene Namebromodomain containing 7
Synonymsbromodomain protein 75 kDa, CELTIX1, BP75
MMRRC Submission 038479-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.770) question?
Stock #R0241 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location88331039-88362194 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 88345850 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 331 (R331W)
Ref Sequence ENSEMBL: ENSMUSP00000034085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034085]
Predicted Effect probably benign
Transcript: ENSMUST00000034085
AA Change: R331W

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660
AA Change: R331W

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: ENSMUST00000145609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149841
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,583,818 V380E probably benign Het
Anapc1 A T 2: 128,628,629 M1527K possibly damaging Het
Bicra A T 7: 15,975,145 M1188K probably damaging Het
Cactin A G 10: 81,322,652 T151A probably benign Het
Cadps G A 14: 12,376,675 T1274M probably damaging Het
Catsper3 T C 13: 55,804,854 M175T probably damaging Het
Chd5 A G 4: 152,366,132 D605G probably damaging Het
Chst12 G A 5: 140,524,299 R227H possibly damaging Het
Cobl A T 11: 12,254,524 V644E probably benign Het
Ddx31 A G 2: 28,848,291 T155A probably damaging Het
Dnah3 T C 7: 119,922,730 Q4069R probably damaging Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Doc2b A G 11: 75,772,561 V355A probably damaging Het
Dock10 A T 1: 80,578,623 S578T probably benign Het
Fcer2a A G 8: 3,688,796 probably null Het
Fmnl1 G A 11: 103,182,170 probably null Het
Git2 T C 5: 114,733,229 E208G probably damaging Het
Hs6st3 T C 14: 119,138,820 F136L probably benign Het
Hydin G A 8: 110,398,023 V555I probably benign Het
Kmt2b A G 7: 30,577,069 L1726S probably damaging Het
Loxl3 A G 6: 83,050,133 D615G probably damaging Het
Nfasc C A 1: 132,636,993 A70S probably benign Het
Olfr1182 A T 2: 88,446,545 M131K possibly damaging Het
Olfr464 T A 11: 87,914,034 N291Y probably damaging Het
Olfr658 A G 7: 104,645,243 M41T probably benign Het
Olfr998 A G 2: 85,590,810 K90R probably benign Het
Pde7b A G 10: 20,436,216 C239R probably damaging Het
Pdzd2 A T 15: 12,367,941 L2654Q probably damaging Het
Pgap1 T C 1: 54,535,951 probably null Het
Proz T A 8: 13,065,356 M124K probably benign Het
Raet1d A G 10: 22,371,429 T135A probably benign Het
Rapgef1 A G 2: 29,702,670 N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Simc1 G T 13: 54,550,525 L1319F probably damaging Het
Sspo A G 6: 48,461,495 E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,339 Y241C probably damaging Het
Tbck A G 3: 132,724,875 E344G probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tmbim7 A T 5: 3,666,866 Y66F probably benign Het
Vil1 T C 1: 74,426,694 L548P probably damaging Het
Wdr3 A G 3: 100,145,657 V593A probably damaging Het
Zan T C 5: 137,421,822 T2858A unknown Het
Zbtb37 A T 1: 161,020,369 V356E probably benign Het
Zfp36 C T 7: 28,378,334 V50I probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly 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
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
R5287:Brd7 UTSW 8 88357541 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
R7977:Brd7 UTSW 8 88334141 missense probably benign
R7987:Brd7 UTSW 8 88334141 missense probably benign
R8205:Brd7 UTSW 8 88343615 missense probably damaging 1.00
X0067:Brd7 UTSW 8 88343697 splice site probably null
Predicted Primers
Posted On2013-08-19