Incidental Mutation 'IGL02642:Brd8'
ID |
301801 |
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 # |
IGL02642
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 34741117 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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
C |
3: 153,644,720 (GRCm39) |
D68G |
probably damaging |
Het |
Amer3 |
A |
G |
1: 34,625,761 (GRCm39) |
|
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,390 (GRCm39) |
L2133P |
probably damaging |
Het |
Bcdin3d |
G |
T |
15: 99,368,673 (GRCm39) |
H175Q |
probably damaging |
Het |
C1rl |
C |
A |
6: 124,470,806 (GRCm39) |
T38N |
possibly damaging |
Het |
Cd160 |
T |
C |
3: 96,707,927 (GRCm39) |
T140A |
probably benign |
Het |
Cdk16 |
T |
G |
X: 20,563,167 (GRCm39) |
D381E |
probably benign |
Het |
Cpq |
G |
A |
15: 33,381,546 (GRCm39) |
G303D |
probably damaging |
Het |
Dmp1 |
T |
C |
5: 104,359,536 (GRCm39) |
S71P |
probably damaging |
Het |
Enc1 |
A |
C |
13: 97,382,042 (GRCm39) |
D184A |
possibly damaging |
Het |
Enkur |
T |
C |
2: 21,199,198 (GRCm39) |
D112G |
probably benign |
Het |
Esrra |
A |
T |
19: 6,890,218 (GRCm39) |
V59E |
possibly damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,058 (GRCm39) |
N47S |
probably benign |
Het |
Fads1 |
T |
A |
19: 10,163,785 (GRCm39) |
V189D |
probably damaging |
Het |
Fam167a |
T |
A |
14: 63,689,721 (GRCm39) |
I6N |
probably damaging |
Het |
Fam98b |
A |
G |
2: 117,090,793 (GRCm39) |
T164A |
probably benign |
Het |
Fhip2a |
A |
G |
19: 57,373,782 (GRCm39) |
N681D |
possibly damaging |
Het |
Fryl |
T |
A |
5: 73,252,809 (GRCm39) |
I953L |
probably benign |
Het |
Gm10610 |
T |
A |
7: 83,198,813 (GRCm39) |
|
noncoding transcript |
Het |
Grik5 |
G |
T |
7: 24,758,408 (GRCm39) |
N338K |
possibly damaging |
Het |
Gstt2 |
A |
G |
10: 75,668,652 (GRCm39) |
I72T |
probably benign |
Het |
Gusb |
T |
C |
5: 130,029,376 (GRCm39) |
|
probably null |
Het |
Hccs |
A |
G |
X: 168,098,588 (GRCm39) |
|
probably benign |
Het |
Hoxb4 |
A |
G |
11: 96,211,050 (GRCm39) |
K217E |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,319,503 (GRCm39) |
V22I |
possibly damaging |
Het |
Ighv1-47 |
A |
G |
12: 114,954,844 (GRCm39) |
Y79H |
probably damaging |
Het |
Il7r |
C |
A |
15: 9,513,133 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
T |
17: 68,119,361 (GRCm39) |
M2613L |
probably benign |
Het |
Lama2 |
G |
A |
10: 27,343,269 (GRCm39) |
H68Y |
probably damaging |
Het |
Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrfn1 |
T |
C |
7: 28,158,113 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,057,322 (GRCm39) |
|
probably null |
Het |
Mri1 |
A |
T |
8: 84,983,702 (GRCm39) |
L63Q |
probably damaging |
Het |
Mrps11 |
G |
T |
7: 78,438,522 (GRCm39) |
|
probably null |
Het |
Mtif2 |
C |
A |
11: 29,494,395 (GRCm39) |
Q666K |
probably benign |
Het |
Mtr |
A |
T |
13: 12,210,118 (GRCm39) |
|
probably benign |
Het |
Mug1 |
A |
G |
6: 121,859,544 (GRCm39) |
N1181S |
probably benign |
Het |
Myom1 |
A |
T |
17: 71,408,093 (GRCm39) |
E1209V |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,138 (GRCm39) |
I26M |
possibly damaging |
Het |
Nlrp1a |
T |
A |
11: 71,014,358 (GRCm39) |
K297N |
probably benign |
Het |
Obox5 |
T |
C |
7: 15,491,972 (GRCm39) |
V129A |
probably benign |
Het |
Pex16 |
C |
T |
2: 92,206,981 (GRCm39) |
A53V |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
Pip5k1b |
G |
T |
19: 24,323,731 (GRCm39) |
H406N |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Plcxd3 |
T |
C |
15: 4,546,122 (GRCm39) |
F42S |
possibly damaging |
Het |
Pnpla7 |
T |
C |
2: 24,940,288 (GRCm39) |
F1056L |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,590,872 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
G |
A |
12: 79,232,110 (GRCm39) |
|
probably benign |
Het |
Serac1 |
A |
G |
17: 6,096,021 (GRCm39) |
F576S |
possibly damaging |
Het |
Slc45a4 |
A |
T |
15: 73,458,664 (GRCm39) |
M295K |
probably benign |
Het |
Taf1c |
T |
C |
8: 120,325,796 (GRCm39) |
T689A |
probably benign |
Het |
Timm10b |
G |
T |
7: 105,317,645 (GRCm39) |
|
probably benign |
Het |
Tle5 |
A |
T |
10: 81,397,126 (GRCm39) |
Q34L |
possibly damaging |
Het |
Tnc |
A |
T |
4: 63,883,816 (GRCm39) |
|
probably benign |
Het |
Toporsl |
T |
C |
4: 52,611,114 (GRCm39) |
W336R |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,615,140 (GRCm39) |
|
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,291 (GRCm39) |
R220G |
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 |
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 |
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 |