Incidental Mutation 'IGL02219:Brd8'
| ID |
285034 |
| 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 # |
IGL02219
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
A |
T |
1: 192,515,691 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
G |
A |
8: 124,681,166 (GRCm39) |
H677Y |
probably benign |
Het |
| Ager |
T |
C |
17: 34,819,094 (GRCm39) |
V314A |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,586,683 (GRCm39) |
M158V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,107,298 (GRCm39) |
Q741* |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,107,285 (GRCm39) |
M745K |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,656 (GRCm39) |
S577P |
probably benign |
Het |
| Camk2b |
A |
G |
11: 5,926,872 (GRCm39) |
L497P |
possibly damaging |
Het |
| Cand2 |
T |
A |
6: 115,780,773 (GRCm39) |
I1219N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,083,255 (GRCm39) |
Y153N |
probably damaging |
Het |
| Cep250 |
T |
G |
2: 155,833,514 (GRCm39) |
V1812G |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,556,643 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
A |
9: 78,324,001 (GRCm39) |
M444K |
probably damaging |
Het |
| Dnm1 |
A |
T |
2: 32,213,462 (GRCm39) |
M506K |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,125,145 (GRCm39) |
H352Q |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,060 (GRCm39) |
Y1675H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,174 (GRCm39) |
T1498A |
probably benign |
Het |
| Gcn1 |
A |
T |
5: 115,751,826 (GRCm39) |
Q2067L |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,249,384 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
G |
A |
5: 146,430,453 (GRCm39) |
A213T |
possibly damaging |
Het |
| Gpr135 |
T |
C |
12: 72,117,047 (GRCm39) |
Y240C |
probably damaging |
Het |
| Gstm5 |
T |
A |
3: 107,805,347 (GRCm39) |
L145Q |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,986 (GRCm39) |
Y355H |
probably damaging |
Het |
| Hsf2 |
A |
C |
10: 57,372,370 (GRCm39) |
K108Q |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,577,718 (GRCm39) |
N694S |
probably benign |
Het |
| Lrpap1 |
G |
A |
5: 35,253,411 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,532 (GRCm39) |
T1162A |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,540 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,477 (GRCm39) |
Y90C |
probably benign |
Het |
| Mybpc3 |
A |
T |
2: 90,951,368 (GRCm39) |
|
probably null |
Het |
| Nup88 |
C |
T |
11: 70,860,518 (GRCm39) |
G87D |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,317 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or7d9 |
A |
T |
9: 20,197,756 (GRCm39) |
T254S |
probably benign |
Het |
| Or9i1 |
C |
T |
19: 13,839,187 (GRCm39) |
T10M |
probably damaging |
Het |
| Pan2 |
G |
A |
10: 128,156,221 (GRCm39) |
E1133K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,635,045 (GRCm39) |
S307P |
probably damaging |
Het |
| Pdgfa |
C |
T |
5: 138,971,950 (GRCm39) |
V150I |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,875,022 (GRCm39) |
C83R |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,463,319 (GRCm39) |
Y71C |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,107 (GRCm39) |
Q218L |
probably damaging |
Het |
| Prl8a9 |
C |
T |
13: 27,743,353 (GRCm39) |
V151I |
possibly damaging |
Het |
| Prop1 |
T |
C |
11: 50,842,911 (GRCm39) |
D92G |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,703,644 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,637,013 (GRCm39) |
C400R |
possibly damaging |
Het |
| Scrib |
T |
A |
15: 75,936,885 (GRCm39) |
K383* |
probably null |
Het |
| Slc44a5 |
T |
C |
3: 153,944,796 (GRCm39) |
Y138H |
possibly damaging |
Het |
| Stra6 |
G |
A |
9: 58,047,752 (GRCm39) |
V108M |
probably benign |
Het |
| Tspan10 |
G |
T |
11: 120,337,198 (GRCm39) |
A323S |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,495,687 (GRCm39) |
V347D |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 87,983,780 (GRCm39) |
L193F |
probably benign |
Het |
| Vps13d |
G |
T |
4: 144,894,716 (GRCm39) |
H457N |
probably benign |
Het |
| Vrtn |
A |
G |
12: 84,695,607 (GRCm39) |
Y119C |
probably damaging |
Het |
| Xpnpep3 |
T |
C |
15: 81,311,657 (GRCm39) |
F121S |
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 |
|
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 |
Incidental Mutation