Incidental Mutation 'IGL00339:Brd8'
| ID |
332333 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brd8
|
| Ensembl Gene |
ENSMUSG00000003778 |
| Gene Name |
bromodomain containing 8 |
| Synonyms |
2610007E11Rik, SMAP, 4432404P07Rik, p120 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 34742936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 310
(G310*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
| AlphaFold |
Q8R3B7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003876
AA Change: G310*
|
| SMART Domains |
Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: G310*
| 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 null
Transcript: ENSMUST00000097626
AA Change: G237*
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: G237*
| 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 null
Transcript: ENSMUST00000115765
AA Change: G310*
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: G310*
| 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 null
Transcript: ENSMUST00000115766
AA Change: G310*
|
| SMART Domains |
Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: G310*
| 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: ENSMUST00000145431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153569
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Snx19 |
T |
G |
9: 30,340,380 (GRCm39) |
V506G |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Brd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation