Incidental Mutation 'R7887:Brdt'
| ID |
609108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brdt
|
| Ensembl Gene |
ENSMUSG00000029279 |
| Gene Name |
bromodomain, testis-specific |
| Synonyms |
7420412D09Rik, Brd6, Fsrg3 |
| MMRRC Submission |
045939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7887 (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 107507799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 676
(S676P)
|
| 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: S676P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: S676P
| 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 |
|
| Meta Mutation Damage Score |
0.0897 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,592,216 (GRCm39) |
T834M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,501 (GRCm39) |
Y197H |
probably benign |
Het |
| Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
| Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
| Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
| Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
| Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
| Hacl1 |
C |
T |
14: 31,356,184 (GRCm39) |
G97S |
probably damaging |
Het |
| Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
| Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
| Nisch |
C |
T |
14: 30,898,652 (GRCm39) |
W664* |
probably null |
Het |
| Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
| Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,768,364 (GRCm39) |
I111T |
possibly damaging |
Het |
| Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
| Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
| Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
|
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 |
PCR Primer
(F):5'- TCCCTGTTTTGCAGTGGAGAAG -3'
(R):5'- CAGGCCCAAGTCACATCCTTTC -3'
Sequencing Primer
(F):5'- GTGGAGAAGCCGCCCCC -3'
(R):5'- AGTCACATCCTTTCCTTCTTTTATGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation