Incidental Mutation 'IGL02125:Brd8'
| ID |
280794 |
| 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 # |
IGL02125
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,324,974 (GRCm39) |
C493* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,139 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,506,413 (GRCm39) |
T213I |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,798,984 (GRCm39) |
L380S |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,103 (GRCm39) |
Q411* |
probably null |
Het |
| Cdh19 |
A |
G |
1: 110,857,614 (GRCm39) |
V240A |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,595,636 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,298,175 (GRCm39) |
V573E |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,091,834 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,084,131 (GRCm39) |
L918P |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,747,959 (GRCm39) |
N1150K |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,402,391 (GRCm39) |
S41P |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,197,768 (GRCm39) |
Y120N |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,124,641 (GRCm39) |
N219S |
probably benign |
Het |
| Gm11563 |
A |
T |
11: 99,549,631 (GRCm39) |
V41E |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 79,147,538 (GRCm39) |
N106K |
probably benign |
Het |
| Gpx3 |
A |
G |
11: 54,798,068 (GRCm39) |
N68S |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,123 (GRCm39) |
N150D |
probably damaging |
Het |
| Iglc2 |
G |
A |
16: 19,017,462 (GRCm39) |
P48S |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,245,798 (GRCm39) |
R629H |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,067 (GRCm39) |
V552E |
possibly damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,983 (GRCm39) |
H655L |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,218,047 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,984,152 (GRCm39) |
Q1768K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,913,188 (GRCm39) |
I6943T |
probably damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,879 (GRCm39) |
N234S |
probably benign |
Het |
| Otud3 |
A |
T |
4: 138,624,025 (GRCm39) |
|
probably null |
Het |
| Parp4 |
A |
G |
14: 56,827,959 (GRCm39) |
K237E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pttg1ip2 |
T |
C |
5: 5,500,644 (GRCm39) |
*151W |
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,570,352 (GRCm39) |
|
probably null |
Het |
| Rdh16 |
G |
T |
10: 127,647,188 (GRCm39) |
|
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,487,147 (GRCm39) |
T28A |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,152,607 (GRCm39) |
V873A |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,474 (GRCm39) |
L263F |
probably damaging |
Het |
| Shq1 |
T |
C |
6: 100,607,967 (GRCm39) |
T315A |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,255,223 (GRCm39) |
E355G |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,687,175 (GRCm39) |
S445P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,098,515 (GRCm39) |
M550L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,419 (GRCm39) |
N871S |
possibly damaging |
Het |
| Syt17 |
T |
C |
7: 118,009,197 (GRCm39) |
D341G |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,826,993 (GRCm39) |
Y430C |
probably benign |
Het |
| Upp1 |
A |
G |
11: 9,075,650 (GRCm39) |
|
probably benign |
Het |
| Vmn1r91 |
T |
G |
7: 19,835,429 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,963 (GRCm39) |
I250F |
possibly damaging |
Het |
| Vmn2r116 |
T |
G |
17: 23,616,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,399,919 (GRCm39) |
V377I |
probably benign |
Het |
| Zfp592 |
G |
T |
7: 80,687,932 (GRCm39) |
A953S |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation