Incidental Mutation 'IGL01734:Brd8'
ID |
105646 |
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 # |
IGL01734
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 34747858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
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: 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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
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 |
|
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 |
2014-01-21 |