Incidental Mutation 'R8002:Brd8'
| ID |
616432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd8
|
| Ensembl Gene |
ENSMUSG00000003778 |
| Gene Name |
bromodomain containing 8 |
| Synonyms |
2610007E11Rik, SMAP, 4432404P07Rik, p120 |
| MMRRC Submission |
046042-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34741609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 360
(T360A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
| AlphaFold |
Q8R3B7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003876
AA Change: T360A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: T360A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
15 |
74 |
4e-33 |
BLAST |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
773 |
N/A |
INTRINSIC |
|
BROMO
|
778 |
886 |
7.59e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097626
AA Change: T287A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: T287A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
15 |
74 |
3e-33 |
BLAST |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
BROMO
|
705 |
813 |
7.59e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115765
AA Change: T360A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: T360A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
15 |
74 |
5e-33 |
BLAST |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
773 |
N/A |
INTRINSIC |
|
BROMO
|
778 |
886 |
7.59e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115766
|
| SMART Domains |
Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
15 |
74 |
4e-33 |
BLAST |
|
coiled coil region
|
97 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
BROMO
|
708 |
816 |
7.59e-40 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
| Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
| Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
| Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
| Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,343 (GRCm39) |
E477G |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,528,232 (GRCm39) |
F342I |
probably damaging |
Het |
| Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,716 (GRCm39) |
T282A |
possibly damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
| Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
| Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
| Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
| Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
| Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
| Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
| Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,271 (GRCm39) |
N343S |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
| Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,873 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Brd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Brd8
|
APN |
18 |
34,742,936 (GRCm39) |
nonsense |
probably null |
|
|
IGL01734:Brd8
|
APN |
18 |
34,747,858 (GRCm39) |
splice site |
probably benign |
|
|
IGL02064:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02067:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02121:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02211:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02216:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Brd8
|
APN |
18 |
34,735,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Brd8
|
APN |
18 |
34,737,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02642:Brd8
|
APN |
18 |
34,741,117 (GRCm39) |
splice site |
probably benign |
|
|
IGL02820:Brd8
|
APN |
18 |
34,740,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02942:Brd8
|
APN |
18 |
34,743,680 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03121:Brd8
|
APN |
18 |
34,739,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03174:Brd8
|
APN |
18 |
34,737,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Brd8
|
APN |
18 |
34,747,633 (GRCm39) |
splice site |
probably benign |
|
|
R0226:Brd8
|
UTSW |
18 |
34,736,947 (GRCm39) |
splice site |
probably benign |
|
|
R1269:Brd8
|
UTSW |
18 |
34,742,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1654:Brd8
|
UTSW |
18 |
34,744,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Brd8
|
UTSW |
18 |
34,742,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1714:Brd8
|
UTSW |
18 |
34,742,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1874:Brd8
|
UTSW |
18 |
34,743,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Brd8
|
UTSW |
18 |
34,735,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Brd8
|
UTSW |
18 |
34,741,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Brd8
|
UTSW |
18 |
34,747,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Brd8
|
UTSW |
18 |
34,747,497 (GRCm39) |
splice site |
probably benign |
|
|
R4411:Brd8
|
UTSW |
18 |
34,756,497 (GRCm39) |
unclassified |
probably benign |
|
|
R4634:Brd8
|
UTSW |
18 |
34,741,537 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4650:Brd8
|
UTSW |
18 |
34,739,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4919:Brd8
|
UTSW |
18 |
34,740,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4925:Brd8
|
UTSW |
18 |
34,740,388 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4948:Brd8
|
UTSW |
18 |
34,747,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Brd8
|
UTSW |
18 |
34,741,034 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5489:Brd8
|
UTSW |
18 |
34,741,698 (GRCm39) |
splice site |
probably null |
|
|
R5841:Brd8
|
UTSW |
18 |
34,738,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Brd8
|
UTSW |
18 |
34,744,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6320:Brd8
|
UTSW |
18 |
34,746,292 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6808:Brd8
|
UTSW |
18 |
34,741,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7149:Brd8
|
UTSW |
18 |
34,737,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7876:Brd8
|
UTSW |
18 |
34,739,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8103:Brd8
|
UTSW |
18 |
34,740,231 (GRCm39) |
missense |
probably benign |
|
|
R8810:Brd8
|
UTSW |
18 |
34,743,002 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCACCCTTCTCTATCTAAGG -3'
(R):5'- GGTGGTAGCTTATTCAACACAG -3'
Sequencing Primer
(F):5'- ACCCTTCTCTATCTAAGGTTTGG -3'
(R):5'- GTGGTAGCTTATTCAACACAGAACTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation