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 |
7420412D09Rik, Brd6, Fsrg3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107479025-107534924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107518190 bp (GRCm39)
|
| 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
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,646,462 (GRCm39) |
|
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,473,354 (GRCm39) |
M68L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,222,701 (GRCm39) |
S1165P |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,345,030 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
T |
A |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,312 (GRCm39) |
D41E |
possibly damaging |
Het |
| Cdkn2aipnl |
A |
G |
11: 51,861,047 (GRCm39) |
T106A |
probably damaging |
Het |
| Cox10 |
G |
A |
11: 63,855,357 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,449,851 (GRCm39) |
C891F |
probably damaging |
Het |
| Cyb5rl |
A |
G |
4: 106,925,836 (GRCm39) |
E6G |
probably benign |
Het |
| Dhrs2 |
T |
C |
14: 55,478,628 (GRCm39) |
S258P |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,150 (GRCm39) |
L145P |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,454,317 (GRCm39) |
I129T |
probably benign |
Het |
| Gkn3 |
A |
G |
6: 87,364,339 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,036,825 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm45844 |
A |
G |
7: 7,243,178 (GRCm39) |
F24S |
probably damaging |
Het |
| Golph3 |
C |
T |
15: 12,349,501 (GRCm39) |
R174W |
probably damaging |
Het |
| Gpatch4 |
A |
C |
3: 87,961,698 (GRCm39) |
E119A |
possibly damaging |
Het |
| Hemgn |
A |
G |
4: 46,400,740 (GRCm39) |
L40P |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,417,493 (GRCm39) |
D231E |
unknown |
Het |
| Klf12 |
T |
C |
14: 100,137,656 (GRCm39) |
I297V |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,261 (GRCm39) |
N165S |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,021,264 (GRCm39) |
V584I |
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,695 (GRCm39) |
T490A |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,273,431 (GRCm39) |
H615Q |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,686,916 (GRCm39) |
L608Q |
probably damaging |
Het |
| Pou2f3 |
T |
G |
9: 43,058,143 (GRCm39) |
Q67H |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,700,585 (GRCm39) |
L1694P |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,932 (GRCm39) |
T117A |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,703 (GRCm39) |
N194D |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,373,859 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,816,836 (GRCm39) |
M97L |
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,970,322 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
C |
2: 166,796,818 (GRCm39) |
|
probably null |
Het |
| Thg1l |
A |
T |
11: 45,839,054 (GRCm39) |
C219* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,270 (GRCm39) |
E174* |
probably null |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,480 (GRCm39) |
S68P |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,239 (GRCm39) |
S631T |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation