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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |