Incidental Mutation 'R2431:Brdt'
ID 476363
Institutional Source Beutler Lab
Gene Symbol Brdt
Ensembl Gene ENSMUSG00000029279
Gene Name bromodomain, testis-specific
Synonyms 7420412D09Rik, Brd6, Fsrg3
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 107479025-107534924 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 107525881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031215]
AlphaFold Q91Y44
PDB Structure Structure of Brdt bromodomain 2 bound to an acetylated histone H3 peptide [X-RAY DIFFRACTION]
Structure of Brdt bromodomain BD1 bound to a diacetylated histone H4 peptide. [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000031215
SMART Domains Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279

DomainStartEndE-ValueType
BROMO 24 134 2.7e-45 SMART
BROMO 268 377 2.18e-40 SMART
low complexity region 392 417 N/A INTRINSIC
low complexity region 446 455 N/A INTRINSIC
low complexity region 472 500 N/A INTRINSIC
Pfam:BET 505 569 9.2e-34 PFAM
low complexity region 585 603 N/A INTRINSIC
low complexity region 649 691 N/A INTRINSIC
low complexity region 895 909 N/A INTRINSIC
Pfam:BRD4_CDT 913 956 3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162804
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the BET protein family. BET proteins have two N-terminal bromodomains and one C-terminal extraterminal domain (ET domain). BET proteins regulate chromatin reorganization via binding to acetylated histones. This gene is thought to play a role in the transcriptional regulation of spermatogenesis. Although referred to as testis-specific bromodomain (Brdt) protein, RT-PCR indicates that this gene is expressed in both mouse oocytes and testes. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this genes leads to arrest of spermatogenesis and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,343,230 (GRCm39) V504A probably benign Het
Atr T G 9: 95,744,945 (GRCm39) N87K probably benign Het
Auts2 A T 5: 132,287,887 (GRCm39) L32* probably null Het
Bptf A G 11: 106,938,066 (GRCm39) V2675A possibly damaging Het
Ccdc162 T C 10: 41,445,841 (GRCm39) K444E probably benign Het
Cnot1 T C 8: 96,501,280 (GRCm39) D96G probably damaging Het
Cpq C A 15: 33,594,265 (GRCm39) Y425* probably null Het
Eri1 A G 8: 35,943,632 (GRCm39) Y221H probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Focad T C 4: 88,249,264 (GRCm39) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm39) T284I probably benign Het
Isg15 C T 4: 156,285,158 (GRCm39) probably null Het
Ltbp4 T C 7: 27,019,101 (GRCm39) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or2a25 T C 6: 42,888,946 (GRCm39) L163S probably damaging Het
Or2ag19 T C 7: 106,444,598 (GRCm39) V260A possibly damaging Het
Or5b21 T C 19: 12,839,970 (GRCm39) V277A probably damaging Het
Or7g12 A G 9: 18,899,299 (GRCm39) N5S probably damaging Het
Piezo2 T C 18: 63,378,695 (GRCm39) H78R possibly damaging Het
Pkd1l1 T C 11: 8,897,197 (GRCm39) N121D probably damaging Het
Pkhd1 T C 1: 20,271,389 (GRCm39) T3055A possibly damaging Het
Ppp5c C T 7: 16,749,350 (GRCm39) V160M probably damaging Het
Ptpn23 G A 9: 110,215,347 (GRCm39) R1438* probably null Het
Ptpro G A 6: 137,420,583 (GRCm39) W183* probably null Het
Pygm T C 19: 6,443,815 (GRCm39) M592T probably damaging Het
Qdpr A G 5: 45,602,072 (GRCm39) V68A probably damaging Het
Rfc5 A C 5: 117,523,523 (GRCm39) S92A probably damaging Het
Ripor3 T C 2: 167,831,715 (GRCm39) Q362R probably benign Het
Ror1 G A 4: 100,298,352 (GRCm39) C575Y probably damaging Het
Skint9 T A 4: 112,246,464 (GRCm39) D216V probably damaging Het
Sox6 T C 7: 115,149,242 (GRCm39) probably null Het
Ugp2 A T 11: 21,279,025 (GRCm39) V387D probably damaging Het
Umodl1 T C 17: 31,211,062 (GRCm39) S747P possibly damaging Het
Vtcn1 A T 3: 100,732,893 (GRCm39) I7F possibly damaging Het
Zfp507 C T 7: 35,494,827 (GRCm39) R72H probably benign Het
Other mutations in Brdt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Brdt APN 5 107,490,069 (GRCm39) missense probably damaging 1.00
IGL02718:Brdt APN 5 107,497,934 (GRCm39) splice site probably benign
IGL02746:Brdt APN 5 107,518,190 (GRCm39) missense probably benign
IGL02851:Brdt APN 5 107,525,861 (GRCm39) missense possibly damaging 0.47
R0585:Brdt UTSW 5 107,504,748 (GRCm39) critical splice donor site probably null
R0708:Brdt UTSW 5 107,506,766 (GRCm39) nonsense probably null
R1338:Brdt UTSW 5 107,498,054 (GRCm39) missense probably benign 0.02
R1710:Brdt UTSW 5 107,491,450 (GRCm39) missense probably damaging 1.00
R1794:Brdt UTSW 5 107,507,719 (GRCm39) small deletion probably benign
R1861:Brdt UTSW 5 107,507,324 (GRCm39) missense probably benign
R1913:Brdt UTSW 5 107,496,479 (GRCm39) missense probably benign
R2029:Brdt UTSW 5 107,507,090 (GRCm39) missense probably benign 0.35
R3121:Brdt UTSW 5 107,525,011 (GRCm39) missense probably damaging 0.99
R3122:Brdt UTSW 5 107,525,011 (GRCm39) missense probably damaging 0.99
R4258:Brdt UTSW 5 107,507,775 (GRCm39) missense probably damaging 0.97
R4609:Brdt UTSW 5 107,507,802 (GRCm39) missense probably benign 0.00
R5306:Brdt UTSW 5 107,493,010 (GRCm39) missense probably damaging 1.00
R5640:Brdt UTSW 5 107,507,174 (GRCm39) nonsense probably null
R5677:Brdt UTSW 5 107,496,483 (GRCm39) missense possibly damaging 0.85
R5936:Brdt UTSW 5 107,507,261 (GRCm39) missense probably damaging 1.00
R6145:Brdt UTSW 5 107,525,865 (GRCm39) missense possibly damaging 0.67
R6261:Brdt UTSW 5 107,496,369 (GRCm39) missense probably benign 0.04
R6408:Brdt UTSW 5 107,533,358 (GRCm39) missense probably damaging 1.00
R6930:Brdt UTSW 5 107,507,081 (GRCm39) missense probably benign 0.35
R7372:Brdt UTSW 5 107,518,160 (GRCm39) missense possibly damaging 0.49
R7741:Brdt UTSW 5 107,506,752 (GRCm39) missense probably benign 0.00
R7842:Brdt UTSW 5 107,496,454 (GRCm39) missense possibly damaging 0.49
R7869:Brdt UTSW 5 107,518,045 (GRCm39) missense probably benign 0.04
R7887:Brdt UTSW 5 107,507,799 (GRCm39) missense possibly damaging 0.66
R7972:Brdt UTSW 5 107,496,415 (GRCm39) missense possibly damaging 0.53
R8064:Brdt UTSW 5 107,525,862 (GRCm39) nonsense probably null
R8958:Brdt UTSW 5 107,525,877 (GRCm39) missense probably benign
R9199:Brdt UTSW 5 107,498,029 (GRCm39) nonsense probably null
R9346:Brdt UTSW 5 107,524,880 (GRCm39) missense probably damaging 0.99
X0011:Brdt UTSW 5 107,524,958 (GRCm39) missense probably damaging 1.00
X0011:Brdt UTSW 5 107,489,994 (GRCm39) missense probably damaging 0.96
Z1176:Brdt UTSW 5 107,507,764 (GRCm39) missense possibly damaging 0.70
Predicted Primers
Posted On 2017-05-11