Incidental Mutation 'IGL02746:Brdt'
ID 306039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brdt
Ensembl Gene ENSMUSG00000029279
Gene Name bromodomain, testis-specific
Synonyms Fsrg3, 7420412D09Rik, Brd6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02746
Quality Score
Status
Chromosome 5
Chromosomal Location 107331159-107387058 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107370324 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 771 (L771P)
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 benign
Transcript: ENSMUST00000031215
AA Change: L771P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: L771P

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,669,503 probably benign Het
Adck5 A T 15: 76,589,154 M68L probably benign Het
Aox3 T C 1: 58,183,542 S1165P possibly damaging Het
Arhgap23 A G 11: 97,454,204 probably benign Het
Ccdc134 T A 15: 82,131,737 probably benign Het
Cdc42bpa T A 1: 180,111,747 D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,970,220 T106A probably damaging Het
Cox10 G A 11: 63,964,531 probably benign Het
Cubn C A 2: 13,445,040 C891F probably damaging Het
Cyb5rl A G 4: 107,068,639 E6G probably benign Het
Dhrs2 T C 14: 55,241,171 S258P probably damaging Het
Dnah10 T C 5: 124,730,086 L145P possibly damaging Het
Epc1 A G 18: 6,454,317 I129T probably benign Het
Gkn3 A G 6: 87,387,357 probably benign Het
Gls2 A G 10: 128,200,956 D202G probably damaging Het
Golph3 C T 15: 12,349,415 R174W probably damaging Het
Gpatch4 A C 3: 88,054,391 E119A possibly damaging Het
Hemgn A G 4: 46,400,740 L40P probably damaging Het
Ifi27l2b A T 12: 103,451,234 D231E unknown Het
Klf12 T C 14: 99,900,220 I297V probably benign Het
Lzts3 T C 2: 130,636,341 N165S probably damaging Het
Nlrp4e G A 7: 23,321,839 V584I probably benign Het
Npas4 T C 19: 4,986,667 T490A probably damaging Het
Pikfyve C A 1: 65,234,272 H615Q probably damaging Het
Plce1 T A 19: 38,698,472 L608Q probably damaging Het
Pou2f3 T G 9: 43,146,846 Q67H probably benign Het
Rev3l T C 10: 39,824,589 L1694P probably damaging Het
RP24-77E13.10 A G 7: 7,240,179 F24S probably damaging Het
Rpl4 A G 9: 64,175,650 T117A probably benign Het
Scn5a T C 9: 119,550,637 N194D probably damaging Het
Sec16b T A 1: 157,546,289 probably benign Het
Slc12a5 A T 2: 164,974,916 M97L probably benign Het
Stard13 A G 5: 151,046,857 probably benign Het
Stau1 A C 2: 166,954,898 probably null Het
Thg1l A T 11: 45,948,227 C219* probably null Het
Togaram1 G T 12: 64,966,496 E174* probably null Het
Vmn1r237 T C 17: 21,314,218 S68P possibly damaging Het
Vmn2r3 A T 3: 64,259,818 S631T possibly damaging Het
Other mutations in Brdt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Brdt APN 5 107342203 missense probably damaging 1.00
IGL02718:Brdt APN 5 107350068 splice site probably benign
IGL02851:Brdt APN 5 107377995 missense possibly damaging 0.47
R0585:Brdt UTSW 5 107356882 critical splice donor site probably null
R0708:Brdt UTSW 5 107358900 nonsense probably null
R1338:Brdt UTSW 5 107350188 missense probably benign 0.02
R1710:Brdt UTSW 5 107343584 missense probably damaging 1.00
R1794:Brdt UTSW 5 107359853 small deletion probably benign
R1861:Brdt UTSW 5 107359458 missense probably benign
R1913:Brdt UTSW 5 107348613 missense probably benign
R2029:Brdt UTSW 5 107359224 missense probably benign 0.35
R2431:Brdt UTSW 5 107378015 splice site probably null
R3121:Brdt UTSW 5 107377145 missense probably damaging 0.99
R3122:Brdt UTSW 5 107377145 missense probably damaging 0.99
R4258:Brdt UTSW 5 107359909 missense probably damaging 0.97
R4609:Brdt UTSW 5 107359936 missense probably benign 0.00
R5306:Brdt UTSW 5 107345144 missense probably damaging 1.00
R5640:Brdt UTSW 5 107359308 nonsense probably null
R5677:Brdt UTSW 5 107348617 missense possibly damaging 0.85
R5936:Brdt UTSW 5 107359395 missense probably damaging 1.00
R6145:Brdt UTSW 5 107377999 missense possibly damaging 0.67
R6261:Brdt UTSW 5 107348503 missense probably benign 0.04
R6408:Brdt UTSW 5 107385492 missense probably damaging 1.00
R6930:Brdt UTSW 5 107359215 missense probably benign 0.35
R7372:Brdt UTSW 5 107370294 missense possibly damaging 0.49
R7741:Brdt UTSW 5 107358886 missense probably benign 0.00
R7842:Brdt UTSW 5 107348588 missense possibly damaging 0.49
R7869:Brdt UTSW 5 107370179 missense probably benign 0.04
R7887:Brdt UTSW 5 107359933 missense possibly damaging 0.66
R7972:Brdt UTSW 5 107348549 missense possibly damaging 0.53
R8064:Brdt UTSW 5 107377996 nonsense probably null
R8958:Brdt UTSW 5 107378011 missense probably benign
R9199:Brdt UTSW 5 107350163 nonsense probably null
R9346:Brdt UTSW 5 107377014 missense probably damaging 0.99
X0011:Brdt UTSW 5 107342128 missense probably damaging 0.96
X0011:Brdt UTSW 5 107377092 missense probably damaging 1.00
Z1176:Brdt UTSW 5 107359898 missense possibly damaging 0.70
Posted On 2015-04-16