Incidental Mutation 'IGL02851:Brdt'
| ID |
361892 |
| 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 # |
IGL02851
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107479025-107534924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107525861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 905
(S905P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000031215
AA Change: S905P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: S905P
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
T |
C |
12: 112,623,518 (GRCm39) |
E314G |
probably damaging |
Het |
| Amtn |
C |
A |
5: 88,529,481 (GRCm39) |
Q106K |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,916,184 (GRCm39) |
F1700S |
probably damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,236 (GRCm39) |
Q194* |
probably null |
Het |
| Cdc27 |
A |
G |
11: 104,417,807 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,401,897 (GRCm39) |
T100A |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,866,791 (GRCm39) |
H440R |
possibly damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,227 (GRCm39) |
D1202Y |
probably damaging |
Het |
| Chat |
C |
A |
14: 32,180,570 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4c-ps |
T |
A |
3: 144,585,493 (GRCm39) |
|
noncoding transcript |
Het |
| Cst9 |
A |
G |
2: 148,677,203 (GRCm39) |
I25V |
probably benign |
Het |
| Dennd1b |
C |
A |
1: 139,096,705 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,928,570 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,973,159 (GRCm39) |
Q145P |
probably benign |
Het |
| Elovl5 |
C |
T |
9: 77,888,784 (GRCm39) |
T217M |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,812,840 (GRCm39) |
V906A |
possibly damaging |
Het |
| Gm10647 |
C |
T |
9: 66,705,543 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,723,918 (GRCm39) |
N736S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,814,423 (GRCm39) |
S1638P |
possibly damaging |
Het |
| Hsd3b2 |
T |
G |
3: 98,623,740 (GRCm39) |
E46A |
possibly damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,674 (GRCm39) |
T38A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,287,477 (GRCm39) |
V450L |
probably damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,311 (GRCm39) |
H173R |
probably benign |
Het |
| Man1a |
G |
A |
10: 53,795,340 (GRCm39) |
R638W |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,878 (GRCm39) |
S249T |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,234,627 (GRCm39) |
D700G |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,239,742 (GRCm39) |
H764R |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,470,747 (GRCm39) |
D1065G |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,569,770 (GRCm39) |
W288L |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,437,168 (GRCm39) |
A452S |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,121,048 (GRCm39) |
K610T |
possibly damaging |
Het |
| Nop2 |
G |
T |
6: 125,121,033 (GRCm39) |
G605V |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,629,670 (GRCm39) |
R107W |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,328 (GRCm39) |
I210K |
probably benign |
Het |
| Or2h2 |
T |
C |
17: 37,397,048 (GRCm39) |
|
probably null |
Het |
| Os9 |
G |
A |
10: 126,935,262 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,886,326 (GRCm39) |
S1802P |
unknown |
Het |
| Piezo2 |
G |
A |
18: 63,153,704 (GRCm39) |
S2547F |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,734,413 (GRCm39) |
A1024E |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,102,677 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,324,678 (GRCm39) |
S1022P |
probably damaging |
Het |
| Sc5d |
T |
C |
9: 42,166,690 (GRCm39) |
N283S |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,500,674 (GRCm39) |
V202M |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,949,197 (GRCm39) |
G60R |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 70,304,067 (GRCm39) |
I366T |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,126,258 (GRCm39) |
R222C |
possibly damaging |
Het |
| Tlr9 |
C |
T |
9: 106,101,929 (GRCm39) |
Q407* |
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,405 (GRCm39) |
S768L |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,386,050 (GRCm39) |
L63Q |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation