Incidental Mutation 'R9346:Brdt'
ID |
707793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brdt
|
Ensembl Gene |
ENSMUSG00000029279 |
Gene Name |
bromodomain, testis-specific |
Synonyms |
7420412D09Rik, Brd6, Fsrg3 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9346 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
107479025-107534924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107524880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 807
(I807T)
|
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 damaging
Transcript: ENSMUST00000031215
AA Change: I807T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031215 Gene: ENSMUSG00000029279 AA Change: I807T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (45/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
G |
T |
11: 58,179,095 (GRCm39) |
C143F |
|
Het |
Adam8 |
T |
C |
7: 139,567,634 (GRCm39) |
I370V |
probably benign |
Het |
Adamts1 |
T |
A |
16: 85,599,420 (GRCm39) |
D60V |
possibly damaging |
Het |
Adh5 |
G |
A |
3: 138,157,203 (GRCm39) |
V255I |
probably benign |
Het |
Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,185,792 (GRCm39) |
I37T |
probably benign |
Het |
Arnt2 |
C |
T |
7: 83,931,321 (GRCm39) |
R383Q |
probably benign |
Het |
Arrb1 |
T |
A |
7: 99,242,207 (GRCm39) |
Y238* |
probably null |
Het |
Cacna1d |
T |
A |
14: 29,818,880 (GRCm39) |
Q1247L |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,732,141 (GRCm39) |
Y213H |
probably damaging |
Het |
Ccdc180 |
A |
T |
4: 45,927,953 (GRCm39) |
T1163S |
probably benign |
Het |
Cfl1 |
T |
A |
19: 5,543,641 (GRCm39) |
L206Q |
probably benign |
Het |
Chga |
A |
G |
12: 102,525,548 (GRCm39) |
D63G |
probably damaging |
Het |
Dennd1a |
T |
C |
2: 37,911,447 (GRCm39) |
D180G |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,577,702 (GRCm39) |
|
probably null |
Het |
Fam171a2 |
C |
T |
11: 102,328,771 (GRCm39) |
V663M |
possibly damaging |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Gimap9 |
C |
A |
6: 48,654,492 (GRCm39) |
N26K |
probably damaging |
Het |
Gtf2i |
A |
G |
5: 134,273,663 (GRCm39) |
F769L |
probably damaging |
Het |
Gtf2i |
G |
T |
5: 134,315,781 (GRCm39) |
H164N |
probably benign |
Het |
Ino80 |
G |
A |
2: 119,257,439 (GRCm39) |
T797I |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,700,233 (GRCm39) |
S188G |
possibly damaging |
Het |
Krt82 |
A |
G |
15: 101,458,959 (GRCm39) |
M27T |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,252,204 (GRCm39) |
K216E |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,100,495 (GRCm39) |
Q95R |
probably benign |
Het |
Or1e1c |
T |
C |
11: 73,266,129 (GRCm39) |
S188P |
probably benign |
Het |
Or4c102 |
T |
A |
2: 88,423,062 (GRCm39) |
S305T |
probably benign |
Het |
Pon1 |
C |
A |
6: 5,193,722 (GRCm39) |
V10L |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,415,541 (GRCm39) |
N252Y |
possibly damaging |
Het |
Rad51 |
G |
A |
2: 118,949,093 (GRCm39) |
C31Y |
probably benign |
Het |
Sbf2 |
A |
G |
7: 109,919,946 (GRCm39) |
F1525L |
probably benign |
Het |
Sec11a |
T |
C |
7: 80,557,760 (GRCm39) |
D173G |
unknown |
Het |
Sftpd |
C |
T |
14: 40,896,466 (GRCm39) |
R239H |
probably benign |
Het |
Shq1 |
T |
A |
6: 100,641,431 (GRCm39) |
Y150F |
probably damaging |
Het |
Slc39a11 |
A |
G |
11: 113,414,449 (GRCm39) |
V50A |
probably damaging |
Het |
Snrnp25 |
A |
T |
11: 32,155,622 (GRCm39) |
M1L |
probably benign |
Het |
Tgm6 |
A |
T |
2: 129,983,776 (GRCm39) |
K312* |
probably null |
Het |
Tln1 |
C |
A |
4: 43,546,895 (GRCm39) |
R827L |
probably damaging |
Het |
Trim37 |
A |
T |
11: 87,057,426 (GRCm39) |
|
probably null |
Het |
Zdhhc13 |
T |
A |
7: 48,472,328 (GRCm39) |
N495K |
probably benign |
Het |
Zfp280b |
C |
T |
10: 75,875,126 (GRCm39) |
T335I |
possibly damaging |
Het |
Zfp583 |
T |
A |
7: 6,328,542 (GRCm39) |
T16S |
probably benign |
Het |
Zgpat |
C |
A |
2: 181,021,844 (GRCm39) |
D423E |
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 |
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 |
|
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'- TCACCCTGTTAACACGCAG -3'
(R):5'- CGCATTATGCTCCAGGTGTTTC -3'
Sequencing Primer
(F):5'- GAAACTGTCTAGAACCTTGGTGC -3'
(R):5'- AGGTGTTTCCGCATCTGC -3'
|
Posted On |
2022-04-18 |