Incidental Mutation 'R7842:Brdt'
ID 606373
Institutional Source Beutler Lab
Gene Symbol Brdt
Ensembl Gene ENSMUSG00000029279
Gene Name bromodomain, testis-specific
Synonyms 7420412D09Rik, Brd6, Fsrg3
MMRRC Submission 045896-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7842 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107479025-107534924 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107496454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 189 (N189D)
Ref Sequence ENSEMBL: ENSMUSP00000031215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031215] [ENSMUST00000112677]
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 possibly damaging
Transcript: ENSMUST00000031215
AA Change: N189D

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: N189D

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 probably benign
Transcript: ENSMUST00000112677
AA Change: N189D

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108297
Gene: ENSMUSG00000029279
AA Change: N189D

DomainStartEndE-ValueType
BROMO 24 134 2.7e-45 SMART
Pfam:Bromodomain 275 326 2.7e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (77/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,855,034 (GRCm39) T3A unknown Het
4933412E24Rik T C 15: 59,888,422 (GRCm39) E6G probably damaging Het
Abca6 A G 11: 110,087,523 (GRCm39) L1135P possibly damaging Het
Agps A G 2: 75,681,876 (GRCm39) D113G probably damaging Het
Ankhd1 G T 18: 36,780,881 (GRCm39) V1978L probably benign Het
Ankrd31 T A 13: 96,957,966 (GRCm39) probably null Het
Arhgap5 T A 12: 52,565,480 (GRCm39) M817K possibly damaging Het
Bdp1 C A 13: 100,235,637 (GRCm39) V105F probably damaging Het
Ccdc180 A T 4: 45,909,428 (GRCm39) N532I probably benign Het
Ccnc A C 4: 21,730,480 (GRCm39) K39T probably damaging Het
Cfap251 T C 5: 123,392,487 (GRCm39) V207A unknown Het
Cfap57 C A 4: 118,411,952 (GRCm39) G1231* probably null Het
Chd7 A T 4: 8,854,115 (GRCm39) T1896S probably benign Het
Clk4 A T 11: 51,171,956 (GRCm39) H412L probably benign Het
Creld1 T C 6: 113,465,100 (GRCm39) L109P probably damaging Het
Cxxc4 A T 3: 133,946,093 (GRCm39) I225L possibly damaging Het
Cyp4f39 A T 17: 32,702,291 (GRCm39) R263W probably benign Het
Dennd10 G A 19: 60,819,317 (GRCm39) A263T not run Het
Dip2c T C 13: 9,656,569 (GRCm39) probably null Het
Dnah14 A G 1: 181,455,463 (GRCm39) T863A probably damaging Het
Dnah17 C A 11: 117,970,508 (GRCm39) probably null Het
Dnajc10 A G 2: 80,175,409 (GRCm39) K599E probably benign Het
Dnajc7 C A 11: 100,489,544 (GRCm39) R101L probably benign Het
Dnttip2 G A 3: 122,069,990 (GRCm39) E402K probably benign Het
Dusp22 T A 13: 30,852,774 (GRCm39) probably null Het
Egflam C A 15: 7,280,675 (GRCm39) R450M probably null Het
Eml5 C T 12: 98,760,394 (GRCm39) R1785Q probably damaging Het
Fam78b G T 1: 166,829,178 (GRCm39) R15L probably damaging Het
Fbxl5 A T 5: 43,915,945 (GRCm39) I489N probably damaging Het
Flt3 G A 5: 147,271,263 (GRCm39) P893S probably damaging Het
Gm17019 T C 5: 15,081,049 (GRCm39) M131V possibly damaging Het
Gm21560 T A 14: 6,216,262 (GRCm38) I194F probably benign Het
Gm28729 T C 9: 96,399,705 (GRCm39) D158G probably damaging Het
Gucy2c C T 6: 136,746,814 (GRCm39) probably null Het
Hectd1 C T 12: 51,819,343 (GRCm39) G1247S probably damaging Het
Ireb2 T A 9: 54,816,970 (GRCm39) I946K probably benign Het
Itgb4 A T 11: 115,873,531 (GRCm39) D249V probably benign Het
Klhdc7a A G 4: 139,694,549 (GRCm39) S133P probably damaging Het
Lsr A T 7: 30,665,437 (GRCm39) D172E possibly damaging Het
Macf1 T C 4: 123,420,702 (GRCm39) E184G probably benign Het
Map2 T A 1: 66,455,570 (GRCm39) D1421E probably benign Het
Map3k4 A T 17: 12,490,030 (GRCm39) L467H possibly damaging Het
Mogat1 T C 1: 78,499,502 (GRCm39) probably null Het
Mxra8 A G 4: 155,927,367 (GRCm39) D384G probably damaging Het
Myo15b A G 11: 115,762,321 (GRCm39) T1214A Het
Naip1 T C 13: 100,563,506 (GRCm39) Y553C probably damaging Het
Nln A T 13: 104,189,137 (GRCm39) I278K probably benign Het
Nsmaf T A 4: 6,435,109 (GRCm39) probably null Het
Nynrin A G 14: 56,102,553 (GRCm39) R741G probably damaging Het
Or4p8 A G 2: 88,727,305 (GRCm39) V212A possibly damaging Het
Or52e19b A G 7: 103,032,783 (GRCm39) V142A probably benign Het
Or5d38 C T 2: 87,955,330 (GRCm39) probably benign Het
Or8j3 G T 2: 86,028,516 (GRCm39) Y193* probably null Het
Orc1 A G 4: 108,462,744 (GRCm39) H607R probably benign Het
Pate2 A T 9: 35,581,829 (GRCm39) Y41F probably damaging Het
Pcdhb20 A T 18: 37,638,112 (GRCm39) T213S possibly damaging Het
Pcm1 G A 8: 41,780,621 (GRCm39) E1858K possibly damaging Het
Pla2g2d A G 4: 138,506,089 (GRCm39) T59A probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prl2c2 A G 13: 13,179,907 (GRCm39) L2P probably benign Het
Proz G A 8: 13,113,406 (GRCm39) V76I probably benign Het
Prr36 A G 8: 4,260,953 (GRCm39) S955P probably benign Het
Pter T C 2: 12,983,352 (GRCm39) V119A probably damaging Het
Qrich1 T A 9: 108,433,567 (GRCm39) probably null Het
Rbm15b T C 9: 106,763,088 (GRCm39) E360G probably damaging Het
Skint11 G A 4: 114,101,968 (GRCm39) C327Y possibly damaging Het
Spag17 T A 3: 99,961,174 (GRCm39) S987T probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Tbx1 T C 16: 18,405,365 (GRCm39) S100G unknown Het
Tiam2 C T 17: 3,568,399 (GRCm39) S1515L possibly damaging Het
Togaram1 C A 12: 65,013,233 (GRCm39) D161E probably damaging Het
Trhde A T 10: 114,532,003 (GRCm39) S366T possibly damaging Het
Ttc12 A G 9: 49,349,724 (GRCm39) I691T possibly damaging Het
Ube4a A G 9: 44,861,025 (GRCm39) probably null Het
Uggt2 A T 14: 119,235,516 (GRCm39) I1453N probably damaging Het
Unc79 T C 12: 103,058,313 (GRCm39) S972P probably damaging Het
Wdr20 G A 12: 110,704,649 (GRCm39) D63N probably benign Het
Wls T A 3: 159,578,816 (GRCm39) I126N probably benign Het
Xirp2 A G 2: 67,355,289 (GRCm39) D3350G 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
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
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
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'- TATGACTAAGTCGTCAGCAACAG -3'
(R):5'- ACAAGTTTAAAGGCACAGCG -3'

Sequencing Primer
(F):5'- ACTGGGGCTTATTTTTCCAACTG -3'
(R):5'- ACACCTGTAGTTCCAGTACTGTGAG -3'
Posted On 2019-12-20