Incidental Mutation 'R4411:Brd8'
| ID |
327944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd8
|
| Ensembl Gene |
ENSMUSG00000003778 |
| Gene Name |
bromodomain containing 8 |
| Synonyms |
2610007E11Rik, SMAP, 4432404P07Rik, p120 |
| MMRRC Submission |
041693-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 34756497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
[ENSMUST00000167161]
[ENSMUST00000166044]
|
| AlphaFold |
Q8R3B7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003876
|
| SMART Domains |
Protein: ENSMUSP00000003876
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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167161
|
| SMART Domains |
Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
61 |
514 |
3.95e-141 |
SMART |
|
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166044
|
| SMART Domains |
Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
61 |
514 |
3.95e-141 |
SMART |
|
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (62/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,042,781 (GRCm39) |
I423V |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,457,652 (GRCm39) |
V306A |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,900 (GRCm39) |
Y1006C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,519 (GRCm39) |
R885G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,503,853 (GRCm39) |
V613E |
probably damaging |
Het |
| Atxn7l1 |
G |
T |
12: 33,244,886 (GRCm39) |
|
probably benign |
Het |
| Bsnd |
C |
T |
4: 106,343,868 (GRCm39) |
R146H |
probably benign |
Het |
| C4b |
C |
T |
17: 34,947,838 (GRCm39) |
R1659H |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,168,115 (GRCm39) |
R1080H |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,916,326 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
A |
4: 148,238,065 (GRCm39) |
R221C |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,881,481 (GRCm39) |
D166G |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,207 (GRCm39) |
L269P |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 118,188,590 (GRCm39) |
V408A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,289,535 (GRCm39) |
T3832A |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,715,436 (GRCm39) |
N493S |
probably damaging |
Het |
| Ighv1-76 |
A |
T |
12: 115,811,731 (GRCm39) |
C41S |
probably damaging |
Het |
| Igkv12-46 |
G |
A |
6: 69,741,930 (GRCm39) |
T16I |
probably benign |
Het |
| Igkv3-9 |
G |
T |
6: 70,565,547 (GRCm39) |
V49F |
probably damaging |
Het |
| Isoc2b |
A |
T |
7: 4,852,433 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
A |
11: 34,037,173 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,373,003 (GRCm39) |
|
probably null |
Het |
| Mdm2 |
A |
T |
10: 117,545,694 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Msh2 |
T |
C |
17: 88,025,032 (GRCm39) |
S637P |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,831,345 (GRCm39) |
F765S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,138,492 (GRCm39) |
P363S |
probably benign |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,050 (GRCm39) |
S477P |
possibly damaging |
Het |
| Pde3b |
GTGATGATGATGATGATGATGATGATG |
GTGATGATGATGATGATGATGATG |
7: 114,133,984 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,941,716 (GRCm39) |
W13* |
probably null |
Het |
| Pnpla8 |
T |
C |
12: 44,330,225 (GRCm39) |
V41A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,860,240 (GRCm39) |
S1017T |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,878,771 (GRCm39) |
Y108* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,079,592 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,275,623 (GRCm39) |
E410G |
possibly damaging |
Het |
| Smpd5 |
G |
T |
15: 76,179,112 (GRCm39) |
R160L |
possibly damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,720 (GRCm39) |
T65A |
probably benign |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,585 (GRCm39) |
V148I |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tnfrsf25 |
G |
A |
4: 152,202,843 (GRCm39) |
|
probably benign |
Het |
| Tpd52l1 |
T |
C |
10: 31,255,315 (GRCm39) |
T11A |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,327,905 (GRCm39) |
E472K |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,173,098 (GRCm39) |
K766E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,560,633 (GRCm39) |
R29256Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,572,414 (GRCm39) |
I26160V |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,002,360 (GRCm39) |
S351P |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Zfp455 |
A |
T |
13: 67,355,389 (GRCm39) |
N219I |
probably damaging |
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 |
|
|
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 |
|
R8002:Brd8
|
UTSW |
18 |
34,741,609 (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'- CCTAGAGGAAGCCAAATCTAGG -3'
(R):5'- TACTCCACAGTAGTCCTGCC -3'
Sequencing Primer
(F):5'- TTGCACATTCCAGTACTAGGAAGGC -3'
(R):5'- CACAGTAGTCCTGCCTGGGTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation