Incidental Mutation 'R1338:Brdt'
| ID |
156934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brdt
|
| Ensembl Gene |
ENSMUSG00000029279 |
| Gene Name |
bromodomain, testis-specific |
| Synonyms |
Fsrg3, 7420412D09Rik, Brd6 |
| MMRRC Submission |
039403-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1338 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107331159-107387058 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107350188 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 243
(P243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031215]
[ENSMUST00000112677]
|
| AlphaFold |
Q91Y44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031215
AA Change: P243Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: P243Q
| 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
AA Change: P243Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108297
Gene: ENSMUSG00000029279
AA Change: P243Q
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
24 |
134 |
2.7e-45 |
SMART |
|
Pfam:Bromodomain
|
275 |
326 |
2.7e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
C |
T |
3: 37,052,535 |
H5005Y |
unknown |
Het |
| Akap12 |
G |
T |
10: 4,313,773 |
V61F |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,142,028 |
V643M |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 127,046,909 |
D459E |
probably damaging |
Het |
| C5ar1 |
A |
C |
7: 16,248,335 |
F253L |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 153,994,508 |
V323G |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,216,995 |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,925,091 |
Y4039F |
probably benign |
Het |
| Lmcd1 |
A |
C |
6: 112,305,128 |
H41P |
probably damaging |
Het |
| Olfr466 |
T |
C |
13: 65,152,383 |
L53P |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,210,289 |
T23A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,449,890 |
E683V |
probably benign |
Het |
| Pck1 |
G |
A |
2: 173,158,410 |
E545K |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,526,724 |
V1412A |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,899,215 |
V363A |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 99,348,911 |
S171P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,012,961 |
K600R |
possibly damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,345,936 |
E34K |
probably damaging |
Het |
| Spata31d1b |
AGGG |
AGG |
13: 59,718,161 |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,673,636 |
S221R |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,616,369 |
N317I |
probably benign |
Het |
| Zan |
A |
T |
5: 137,393,651 |
C4627* |
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,396,961 |
V1232A |
possibly damaging |
Het |
|
| Other mutations in Brdt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02342:Brdt
|
APN |
5 |
107342203 |
missense |
probably damaging |
1.00 |
|
IGL02718:Brdt
|
APN |
5 |
107350068 |
splice site |
probably benign |
|
|
IGL02746:Brdt
|
APN |
5 |
107370324 |
missense |
probably benign |
|
|
IGL02851:Brdt
|
APN |
5 |
107377995 |
missense |
possibly damaging |
0.47 |
|
R0585:Brdt
|
UTSW |
5 |
107356882 |
critical splice donor site |
probably null |
|
|
R0708:Brdt
|
UTSW |
5 |
107358900 |
nonsense |
probably null |
|
|
R1710:Brdt
|
UTSW |
5 |
107343584 |
missense |
probably damaging |
1.00 |
|
R1794:Brdt
|
UTSW |
5 |
107359853 |
small deletion |
probably benign |
|
|
R1861:Brdt
|
UTSW |
5 |
107359458 |
missense |
probably benign |
|
|
R1913:Brdt
|
UTSW |
5 |
107348613 |
missense |
probably benign |
|
|
R2029:Brdt
|
UTSW |
5 |
107359224 |
missense |
probably benign |
0.35 |
|
R2431:Brdt
|
UTSW |
5 |
107378015 |
splice site |
probably null |
|
|
R3121:Brdt
|
UTSW |
5 |
107377145 |
missense |
probably damaging |
0.99 |
|
R3122:Brdt
|
UTSW |
5 |
107377145 |
missense |
probably damaging |
0.99 |
|
R4258:Brdt
|
UTSW |
5 |
107359909 |
missense |
probably damaging |
0.97 |
|
R4609:Brdt
|
UTSW |
5 |
107359936 |
missense |
probably benign |
0.00 |
|
R5306:Brdt
|
UTSW |
5 |
107345144 |
missense |
probably damaging |
1.00 |
|
R5640:Brdt
|
UTSW |
5 |
107359308 |
nonsense |
probably null |
|
|
R5677:Brdt
|
UTSW |
5 |
107348617 |
missense |
possibly damaging |
0.85 |
|
R5936:Brdt
|
UTSW |
5 |
107359395 |
missense |
probably damaging |
1.00 |
|
R6145:Brdt
|
UTSW |
5 |
107377999 |
missense |
possibly damaging |
0.67 |
|
R6261:Brdt
|
UTSW |
5 |
107348503 |
missense |
probably benign |
0.04 |
|
R6408:Brdt
|
UTSW |
5 |
107385492 |
missense |
probably damaging |
1.00 |
|
R6930:Brdt
|
UTSW |
5 |
107359215 |
missense |
probably benign |
0.35 |
|
R7372:Brdt
|
UTSW |
5 |
107370294 |
missense |
possibly damaging |
0.49 |
|
R7741:Brdt
|
UTSW |
5 |
107358886 |
missense |
probably benign |
0.00 |
|
R7842:Brdt
|
UTSW |
5 |
107348588 |
missense |
possibly damaging |
0.49 |
|
R7869:Brdt
|
UTSW |
5 |
107370179 |
missense |
probably benign |
0.04 |
|
R7887:Brdt
|
UTSW |
5 |
107359933 |
missense |
possibly damaging |
0.66 |
|
R7972:Brdt
|
UTSW |
5 |
107348549 |
missense |
possibly damaging |
0.53 |
|
R8064:Brdt
|
UTSW |
5 |
107377996 |
nonsense |
probably null |
|
|
R8958:Brdt
|
UTSW |
5 |
107378011 |
missense |
probably benign |
|
|
R9199:Brdt
|
UTSW |
5 |
107350163 |
nonsense |
probably null |
|
|
R9346:Brdt
|
UTSW |
5 |
107377014 |
missense |
probably damaging |
0.99 |
|
X0011:Brdt
|
UTSW |
5 |
107342128 |
missense |
probably damaging |
0.96 |
|
X0011:Brdt
|
UTSW |
5 |
107377092 |
missense |
probably damaging |
1.00 |
|
Z1176:Brdt
|
UTSW |
5 |
107359898 |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATGGGCCATGCCACCACAC -3'
(R):5'- GGCCATGCATACGGCAAATGTTTC -3'
Sequencing Primer
(F):5'- ACCACACCTGGCATCTATAGTTTG -3'
(R):5'- CATACGGCAAATGTTTCTTGGC -3'
|
| Posted On |
2014-02-11 |
