Incidental Mutation 'IGL01947:Brd7'
ID 181279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brd7
Ensembl Gene ENSMUSG00000031660
Gene Name bromodomain containing 7
Synonyms BP75, CELTIX1, bromodomain protein 75 kDa
Accession Numbers
Essential gene? Possibly essential (E-score: 0.746) question?
Stock # IGL01947
Quality Score
Status
Chromosome 8
Chromosomal Location 89057667-89088822 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 89059503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000034085] [ENSMUST00000098521] [ENSMUST00000169037] [ENSMUST00000168545] [ENSMUST00000171456]
AlphaFold O88665
Predicted Effect probably benign
Transcript: ENSMUST00000034085
SMART Domains Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660

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 probably benign
Transcript: ENSMUST00000098521
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146370
Predicted Effect probably benign
Transcript: ENSMUST00000210688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149841
Predicted Effect probably benign
Transcript: ENSMUST00000169037
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168545
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171456
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659

DomainStartEndE-ValueType
low complexity region 91 104 N/A INTRINSIC
low complexity region 126 142 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 1.2e-35 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,428 (GRCm39) probably null Het
Aloxe3 T A 11: 69,033,847 (GRCm39) probably benign Het
Atic C T 1: 71,609,996 (GRCm39) probably benign Het
Avpr1a T C 10: 122,288,087 (GRCm39) V365A probably benign Het
Cc2d2a A G 5: 43,845,579 (GRCm39) N332D probably damaging Het
Cdh20 C T 1: 104,921,649 (GRCm39) P649S possibly damaging Het
Cgnl1 T C 9: 71,632,326 (GRCm39) T342A probably damaging Het
Chst10 A G 1: 38,904,646 (GRCm39) L349P probably damaging Het
Cox6b2 T A 7: 4,754,929 (GRCm39) K77* probably null Het
Crnkl1 G A 2: 145,763,744 (GRCm39) A498V probably benign Het
Cux1 A G 5: 136,303,979 (GRCm39) L1394P probably benign Het
Dapp1 T C 3: 137,641,404 (GRCm39) Y197C probably damaging Het
Dcc A G 18: 71,959,280 (GRCm39) I164T probably benign Het
Disp3 T A 4: 148,344,976 (GRCm39) I472F probably damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gpd1 A G 15: 99,618,112 (GRCm39) I143V possibly damaging Het
Hmcn1 T A 1: 150,608,643 (GRCm39) N1513I possibly damaging Het
Jakmip2 T C 18: 43,680,159 (GRCm39) I733V probably benign Het
Klhl12 T A 1: 134,391,689 (GRCm39) L107H probably damaging Het
Lcn8 A G 2: 25,545,157 (GRCm39) D109G probably damaging Het
Maz A T 7: 126,623,614 (GRCm39) probably null Het
Mttp T A 3: 137,812,890 (GRCm39) D595V probably damaging Het
Mymk A C 2: 26,956,406 (GRCm39) L58R possibly damaging Het
Nckap1 A C 2: 80,339,097 (GRCm39) I977S probably damaging Het
Nckap1l A T 15: 103,399,442 (GRCm39) I1021F probably benign Het
Or12d2 A T 17: 37,624,556 (GRCm39) C240S probably damaging Het
Or4f14b A T 2: 111,775,339 (GRCm39) M154K probably benign Het
Or4f6 A T 2: 111,839,361 (GRCm39) S57T possibly damaging Het
Or6c38 G A 10: 128,929,747 (GRCm39) T32I possibly damaging Het
Pde5a T A 3: 122,629,259 (GRCm39) F644L probably damaging Het
Pdzd2 A G 15: 12,592,440 (GRCm39) I68T probably damaging Het
Pik3r4 T A 9: 105,563,349 (GRCm39) V1242D possibly damaging Het
Ppp6r2 G T 15: 89,162,929 (GRCm39) W517L probably damaging Het
Scrib A T 15: 75,933,616 (GRCm39) I703K probably benign Het
Serpina1b T C 12: 103,695,576 (GRCm39) S322G probably benign Het
Siglecg C A 7: 43,058,187 (GRCm39) Q25K probably benign Het
Slc12a3 G A 8: 95,092,447 (GRCm39) probably null Het
Slc6a13 G T 6: 121,302,116 (GRCm39) probably null Het
Stard13 A T 5: 150,986,309 (GRCm39) D282E probably damaging Het
Tpte A T 8: 22,845,489 (GRCm39) Y513F possibly damaging Het
Ubox5 T A 2: 130,442,579 (GRCm39) K36I possibly damaging Het
Other mutations in Brd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Brd7 APN 8 89,078,452 (GRCm39) missense probably benign 0.41
IGL02441:Brd7 APN 8 89,070,218 (GRCm39) missense probably damaging 1.00
R0241:Brd7 UTSW 8 89,072,478 (GRCm39) missense probably benign 0.01
R0241:Brd7 UTSW 8 89,072,478 (GRCm39) missense probably benign 0.01
R0845:Brd7 UTSW 8 89,069,395 (GRCm39) nonsense probably null
R1613:Brd7 UTSW 8 89,073,578 (GRCm39) missense probably benign 0.00
R1659:Brd7 UTSW 8 89,060,420 (GRCm39) missense probably damaging 1.00
R1663:Brd7 UTSW 8 89,084,651 (GRCm39) missense possibly damaging 0.87
R2237:Brd7 UTSW 8 89,073,541 (GRCm39) missense probably benign 0.22
R2280:Brd7 UTSW 8 89,069,385 (GRCm39) missense probably benign 0.00
R2916:Brd7 UTSW 8 89,069,408 (GRCm39) missense probably damaging 0.98
R2917:Brd7 UTSW 8 89,069,408 (GRCm39) missense probably damaging 0.98
R3770:Brd7 UTSW 8 89,066,035 (GRCm39) critical splice donor site probably null
R4030:Brd7 UTSW 8 89,059,559 (GRCm39) missense probably damaging 1.00
R5287:Brd7 UTSW 8 89,084,169 (GRCm39) missense probably damaging 1.00
R5403:Brd7 UTSW 8 89,084,169 (GRCm39) missense probably damaging 1.00
R6333:Brd7 UTSW 8 89,071,819 (GRCm39) missense probably damaging 1.00
R7021:Brd7 UTSW 8 89,073,632 (GRCm39) missense probably benign 0.00
R7072:Brd7 UTSW 8 89,073,615 (GRCm39) missense probably benign
R7445:Brd7 UTSW 8 89,088,336 (GRCm39) missense probably damaging 1.00
R7482:Brd7 UTSW 8 89,088,254 (GRCm39) missense probably damaging 0.99
R7977:Brd7 UTSW 8 89,060,769 (GRCm39) missense probably benign
R7987:Brd7 UTSW 8 89,060,769 (GRCm39) missense probably benign
R8205:Brd7 UTSW 8 89,070,243 (GRCm39) missense probably damaging 1.00
R8814:Brd7 UTSW 8 89,071,782 (GRCm39) missense probably benign 0.00
R8984:Brd7 UTSW 8 89,081,340 (GRCm39) missense probably benign 0.00
R9190:Brd7 UTSW 8 89,081,274 (GRCm39) missense probably damaging 1.00
R9296:Brd7 UTSW 8 89,059,560 (GRCm39) missense possibly damaging 0.46
X0067:Brd7 UTSW 8 89,070,325 (GRCm39) splice site probably null
Posted On 2014-05-07