Incidental Mutation 'IGL02718:Brdt'
| ID |
304879 |
| 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 # |
IGL02718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107479025-107534924 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 107497934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031215]
[ENSMUST00000112677]
|
| AlphaFold |
Q91Y44 |
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000112677
|
| SMART Domains |
Protein: ENSMUSP00000108297
Gene: ENSMUSG00000029279
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
24 |
134 |
2.7e-45 |
SMART |
|
Pfam:Bromodomain
|
275 |
326 |
2.7e-8 |
PFAM |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
A |
G |
7: 30,399,329 (GRCm39) |
D41G |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,322,991 (GRCm39) |
Y7N |
probably damaging |
Het |
| Atf1 |
C |
A |
15: 100,152,100 (GRCm39) |
Q151K |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,237,049 (GRCm39) |
|
probably null |
Het |
| Ctnnd2 |
A |
G |
15: 31,027,762 (GRCm39) |
S1229G |
probably damaging |
Het |
| Dcaf15 |
T |
A |
8: 84,825,005 (GRCm39) |
I476L |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,966,354 (GRCm39) |
I1108V |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,777,466 (GRCm39) |
H3694L |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,535 (GRCm39) |
D1838E |
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,708,226 (GRCm39) |
Y164N |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,351 (GRCm39) |
F101L |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,211,806 (GRCm39) |
C864F |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,453,858 (GRCm39) |
E96G |
possibly damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,727,763 (GRCm39) |
F78L |
probably damaging |
Het |
| Gm9602 |
A |
T |
14: 15,932,620 (GRCm39) |
R21* |
probably null |
Het |
| Grip1 |
T |
A |
10: 119,911,420 (GRCm39) |
*713K |
probably null |
Het |
| Hecw1 |
T |
C |
13: 14,481,520 (GRCm39) |
|
probably null |
Het |
| Il31ra |
G |
A |
13: 112,666,903 (GRCm39) |
R392* |
probably null |
Het |
| L3hypdh |
T |
G |
12: 72,131,630 (GRCm39) |
S101R |
probably damaging |
Het |
| Lpar5 |
T |
A |
6: 125,059,207 (GRCm39) |
D309E |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,295,043 (GRCm39) |
Y406C |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,303,439 (GRCm39) |
I166M |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,539,483 (GRCm39) |
Y2759* |
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,256,302 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
G |
8: 22,587,479 (GRCm39) |
R314S |
probably benign |
Het |
| Nifk |
A |
C |
1: 118,255,362 (GRCm39) |
N38T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,968,684 (GRCm39) |
V2772M |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,912,182 (GRCm39) |
Y114N |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,273 (GRCm39) |
Y73* |
probably null |
Het |
| Or2b28 |
T |
C |
13: 21,531,554 (GRCm39) |
L152P |
probably damaging |
Het |
| Or2d3 |
A |
T |
7: 106,490,536 (GRCm39) |
M260K |
probably damaging |
Het |
| Or52r1c |
C |
A |
7: 102,734,790 (GRCm39) |
L22I |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,459 (GRCm39) |
I158M |
possibly damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,311 (GRCm39) |
E610G |
probably damaging |
Het |
| Pfas |
G |
T |
11: 68,890,971 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,769,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,348 (GRCm39) |
T1146I |
possibly damaging |
Het |
| Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,510,640 (GRCm39) |
W74R |
probably damaging |
Het |
| Riok3 |
C |
A |
18: 12,286,053 (GRCm39) |
S427* |
probably null |
Het |
| Ros1 |
A |
T |
10: 51,994,328 (GRCm39) |
D1317E |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,842 (GRCm39) |
D47G |
possibly damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Snai3 |
C |
A |
8: 123,182,861 (GRCm39) |
|
probably null |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,268,999 (GRCm39) |
S151T |
probably benign |
Het |
| Spmip4 |
G |
T |
6: 50,561,367 (GRCm39) |
T184K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,751,077 (GRCm39) |
E37G |
possibly damaging |
Het |
| Syt10 |
A |
G |
15: 89,698,282 (GRCm39) |
I354T |
probably damaging |
Het |
| Trip11 |
A |
C |
12: 101,852,284 (GRCm39) |
S593R |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,364 (GRCm39) |
E908G |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,781,405 (GRCm39) |
F357L |
probably 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 |
|
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 |
|
|
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