Incidental Mutation 'IGL02126:Brd8'
ID |
280851 |
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 # |
IGL02126
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34735780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 899
(S899N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
AlphaFold |
Q8R3B7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003876
AA Change: S899N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003876 Gene: ENSMUSG00000003778 AA Change: S899N
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 damaging
Transcript: ENSMUST00000097626
AA Change: S826N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095229 Gene: ENSMUSG00000003778 AA Change: S826N
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 damaging
Transcript: ENSMUST00000115765
AA Change: S899N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000111431 Gene: ENSMUSG00000003778 AA Change: S899N
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 damaging
Transcript: ENSMUST00000115766
AA Change: S829N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111432 Gene: ENSMUSG00000003778 AA Change: S829N
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: ENSMUST00000152612
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Angptl3 |
T |
C |
4: 98,919,738 (GRCm39) |
|
probably null |
Het |
Atoh1 |
T |
C |
6: 64,706,334 (GRCm39) |
W10R |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,544,154 (GRCm39) |
T317A |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,465,484 (GRCm39) |
W12R |
probably damaging |
Het |
Celf1 |
T |
A |
2: 90,831,408 (GRCm39) |
L79H |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,175,770 (GRCm39) |
V423A |
probably damaging |
Het |
Ddr1 |
T |
A |
17: 35,999,481 (GRCm39) |
I431F |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,080,149 (GRCm39) |
L2343P |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,817 (GRCm39) |
D1446G |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,599 (GRCm39) |
H231R |
possibly damaging |
Het |
Fam221b |
T |
A |
4: 43,666,450 (GRCm39) |
I54F |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,839,281 (GRCm39) |
V365M |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,394,839 (GRCm39) |
F69L |
possibly damaging |
Het |
Gba2 |
T |
G |
4: 43,567,918 (GRCm39) |
|
probably null |
Het |
Gbf1 |
C |
A |
19: 46,240,556 (GRCm39) |
P46Q |
probably damaging |
Het |
Gimap6 |
T |
G |
6: 48,679,635 (GRCm39) |
S134R |
probably damaging |
Het |
Gm5424 |
A |
C |
10: 61,907,377 (GRCm39) |
|
noncoding transcript |
Het |
Hexb |
T |
C |
13: 97,314,532 (GRCm39) |
K404E |
possibly damaging |
Het |
Hs3st3a1 |
G |
A |
11: 64,327,331 (GRCm39) |
V147M |
probably damaging |
Het |
Hsd17b4 |
T |
C |
18: 50,315,063 (GRCm39) |
V610A |
probably benign |
Het |
Loxl3 |
T |
A |
6: 83,025,628 (GRCm39) |
W329R |
probably damaging |
Het |
Lrrc52 |
A |
G |
1: 167,273,575 (GRCm39) |
F247S |
probably damaging |
Het |
Naa38 |
C |
T |
11: 69,287,045 (GRCm39) |
R42W |
probably damaging |
Het |
Nadsyn1 |
G |
A |
7: 143,357,753 (GRCm39) |
Q485* |
probably null |
Het |
Nid1 |
A |
G |
13: 13,663,743 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
T |
C |
13: 40,362,251 (GRCm39) |
T224A |
probably benign |
Het |
Or5m11b |
T |
G |
2: 85,806,517 (GRCm39) |
I310S |
probably benign |
Het |
Palld |
A |
G |
8: 62,330,476 (GRCm39) |
Y134H |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pfn3 |
T |
C |
13: 55,562,699 (GRCm39) |
D94G |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,187,419 (GRCm39) |
R3630C |
probably damaging |
Het |
Por |
T |
A |
5: 135,744,829 (GRCm39) |
F31I |
probably benign |
Het |
Ppp1r12c |
T |
C |
7: 4,492,858 (GRCm39) |
E127G |
probably benign |
Het |
Ppp1r9a |
T |
A |
6: 5,156,229 (GRCm39) |
S1162T |
probably damaging |
Het |
Psen2 |
C |
A |
1: 180,057,488 (GRCm39) |
A297S |
probably benign |
Het |
Rpusd2 |
G |
A |
2: 118,869,119 (GRCm39) |
R514Q |
probably damaging |
Het |
Rxrg |
A |
G |
1: 167,462,029 (GRCm39) |
M235V |
probably damaging |
Het |
Sash1 |
T |
C |
10: 8,615,229 (GRCm39) |
M644V |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
Slco1a7 |
T |
A |
6: 141,684,739 (GRCm39) |
T239S |
probably benign |
Het |
Ssu72 |
T |
C |
4: 155,816,483 (GRCm39) |
I155T |
probably benign |
Het |
Tas2r102 |
A |
G |
6: 132,739,607 (GRCm39) |
R172G |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Trav12-2 |
C |
A |
14: 53,853,859 (GRCm39) |
N2K |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,755,845 (GRCm39) |
Q205* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,180,052 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
G |
1: 187,995,588 (GRCm39) |
S120G |
probably benign |
Het |
Vmn2r100 |
T |
C |
17: 19,741,504 (GRCm39) |
|
probably benign |
Het |
Zer1 |
G |
T |
2: 29,994,928 (GRCm39) |
T489K |
probably benign |
Het |
Zfp955b |
G |
T |
17: 33,521,238 (GRCm39) |
G236* |
probably null |
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 |
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 |
2015-04-16 |