Incidental Mutation 'R5640:Brdt'
ID 440597
Institutional Source Beutler Lab
Gene Symbol Brdt
Ensembl Gene ENSMUSG00000029279
Gene Name bromodomain, testis-specific
Synonyms 7420412D09Rik, Brd6, Fsrg3
MMRRC Submission 043289-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5640 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 107479025-107534924 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 107507174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 525 (K525*)
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
AA Change: K525*
SMART Domains Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: K525*

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: ENSMUST00000162804
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,861,511 (GRCm39) Y220C probably damaging Het
Actl6a A G 3: 32,772,199 (GRCm39) T170A probably damaging Het
Adamts8 T C 9: 30,867,796 (GRCm39) V540A probably benign Het
Aga T C 8: 53,964,919 (GRCm39) L27P probably damaging Het
Agmat T A 4: 141,483,134 (GRCm39) H189Q probably damaging Het
Alx3 C A 3: 107,507,977 (GRCm39) T162K probably damaging Het
Armc2 T A 10: 41,887,894 (GRCm39) I30L possibly damaging Het
Atp10d T G 5: 72,404,552 (GRCm39) Y487D probably damaging Het
Atp13a4 C T 16: 29,234,649 (GRCm39) M908I probably damaging Het
B4galt2 T G 4: 117,731,195 (GRCm39) N322T probably benign Het
Bmal1 C T 7: 112,907,888 (GRCm39) P530L probably damaging Het
Ccdc168 T C 1: 44,101,087 (GRCm39) I4V probably benign Het
Ces3a T A 8: 105,778,377 (GRCm39) M246K probably benign Het
Chd9 T A 8: 91,763,190 (GRCm39) H2338Q probably damaging Het
Cyp3a16 T A 5: 145,389,633 (GRCm39) D244V possibly damaging Het
Dhrs9 C A 2: 69,224,822 (GRCm39) A170E probably damaging Het
Dlg5 T C 14: 24,220,529 (GRCm39) N550D probably damaging Het
Dnah8 C T 17: 31,022,082 (GRCm39) T3894I probably damaging Het
Dpys T C 15: 39,705,462 (GRCm39) H217R probably damaging Het
Dpysl2 C T 14: 67,071,817 (GRCm39) V108I probably benign Het
Eprs1 A G 1: 185,106,381 (GRCm39) T199A probably benign Het
Fads1 A G 19: 10,163,767 (GRCm39) D183G probably damaging Het
Fam110b T G 4: 5,798,689 (GRCm39) Y36D probably damaging Het
Fbxl21 G A 13: 56,685,194 (GRCm39) D407N probably benign Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gnas C A 2: 174,126,764 (GRCm39) R100S probably benign Het
Gse1 A G 8: 121,289,416 (GRCm39) H90R possibly damaging Het
Hoxc10 G T 15: 102,875,702 (GRCm39) C137F probably benign Het
Ipp T G 4: 116,377,886 (GRCm39) L252R possibly damaging Het
Jmjd1c T A 10: 67,061,857 (GRCm39) S1403R probably benign Het
Kif19a A G 11: 114,670,041 (GRCm39) M79V probably benign Het
Lipo4 T C 19: 33,478,986 (GRCm39) T285A possibly damaging Het
Lrrc66 A T 5: 73,765,977 (GRCm39) D355E probably benign Het
Lrsam1 T A 2: 32,835,864 (GRCm39) Q301L probably benign Het
Med6 C T 12: 81,628,628 (GRCm39) R138Q probably damaging Het
Nlrc5 A G 8: 95,202,421 (GRCm39) T174A probably benign Het
Nrbp1 C T 5: 31,406,929 (GRCm39) R322W possibly damaging Het
Or10ak14 T A 4: 118,610,986 (GRCm39) T250S probably benign Het
Or11g24 C A 14: 50,662,111 (GRCm39) A45D probably benign Het
Or4a47 T A 2: 89,666,282 (GRCm39) E2D probably benign Het
Pde3a A G 6: 141,429,641 (GRCm39) E734G probably damaging Het
Pgap6 C T 17: 26,337,846 (GRCm39) T410I possibly damaging Het
Pnpla7 C T 2: 24,893,013 (GRCm39) T167I possibly damaging Het
Pop7 T C 5: 137,500,321 (GRCm39) N4S possibly damaging Het
Ppm1h C A 10: 122,618,183 (GRCm39) P114Q probably benign Het
Prdm16 T C 4: 154,426,367 (GRCm39) T473A probably benign Het
Prdm6 T C 18: 53,669,813 (GRCm39) probably null Het
Prkdc T G 16: 15,647,633 (GRCm39) W3686G possibly damaging Het
Ptchd4 C A 17: 42,814,026 (GRCm39) H642Q possibly damaging Het
Rad1 A G 15: 10,496,009 (GRCm39) Y228C possibly damaging Het
Rgs22 G A 15: 36,107,101 (GRCm39) T56I probably benign Het
Rnf135 C A 11: 80,084,733 (GRCm39) H169N probably benign Het
Rnft1 C T 11: 86,377,319 (GRCm39) Q128* probably null Het
Sez6 T C 11: 77,864,585 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,649,769 (GRCm39) S125G probably benign Het
Sik2 T C 9: 50,826,806 (GRCm39) E295G possibly damaging Het
Themis A G 10: 28,739,372 (GRCm39) Q614R probably damaging Het
Thsd7b T A 1: 130,044,408 (GRCm39) C1129* probably null Het
Tmem68 A T 4: 3,569,512 (GRCm39) F59L probably benign Het
Vmn2r107 A G 17: 20,595,426 (GRCm39) T660A probably damaging Het
Vwa5b2 G T 16: 20,416,292 (GRCm39) C484F probably damaging Het
Zfp418 T A 7: 7,184,980 (GRCm39) C314* probably null 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
R2431:Brdt UTSW 5 107,525,881 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- AACTGAATGCCTGTGTGATGTG -3'
(R):5'- ACCTTCTTTGCTGTGAGAGGAG -3'

Sequencing Primer
(F):5'- GGTACATTGTATGAAATTCCCACACC -3'
(R):5'- GAGCAACCGTGAGTGCG -3'
Posted On 2016-11-08