Incidental Mutation 'R4925:Brd8'
| ID |
378997 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34740388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 552
(T552A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
| AlphaFold |
Q8R3B7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003876
AA Change: T552A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: T552A
| 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
AA Change: T479A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: T479A
| 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
AA Change: T552A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: T552A
| 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
AA Change: T482A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: T482A
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,316,540 (GRCm39) |
C173* |
probably null |
Het |
| 3425401B19Rik |
T |
A |
14: 32,385,137 (GRCm39) |
H276L |
possibly damaging |
Het |
| Adam21 |
T |
G |
12: 81,607,163 (GRCm39) |
M200L |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,182 (GRCm39) |
S974T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,251,507 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
G |
3: 89,853,930 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,988,733 (GRCm39) |
S1826G |
probably benign |
Het |
| Ccdc163 |
A |
G |
4: 116,568,528 (GRCm39) |
E77G |
possibly damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,526 (GRCm39) |
R194G |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,836,726 (GRCm39) |
|
probably null |
Het |
| Cln8 |
A |
G |
8: 14,945,004 (GRCm39) |
H106R |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,582,077 (GRCm39) |
L1391F |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,969 (GRCm39) |
D230N |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,318 (GRCm39) |
G87V |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,389,644 (GRCm39) |
M240I |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,133 (GRCm39) |
W60R |
possibly damaging |
Het |
| Fam47e |
A |
G |
5: 92,733,149 (GRCm39) |
Y304C |
probably damaging |
Het |
| Fgfbp1 |
A |
T |
5: 44,136,634 (GRCm39) |
D219E |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,787,002 (GRCm39) |
Y485N |
probably damaging |
Het |
| Fhdc1 |
C |
T |
3: 84,360,840 (GRCm39) |
V363M |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,437 (GRCm39) |
E31V |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,605 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ghrl |
T |
C |
6: 113,693,218 (GRCm39) |
D77G |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,835,977 (GRCm39) |
V309A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,731,472 (GRCm39) |
Y1622C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,447 (GRCm39) |
M1555K |
possibly damaging |
Het |
| Grin2a |
T |
A |
16: 9,487,687 (GRCm39) |
N404Y |
probably damaging |
Het |
| Gtpbp1 |
A |
C |
15: 79,600,169 (GRCm39) |
I399L |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,460,753 (GRCm39) |
S911P |
possibly damaging |
Het |
| Igkc |
A |
T |
6: 70,703,520 (GRCm39) |
K34* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,415,065 (GRCm39) |
I149F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,101,309 (GRCm39) |
A1934V |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,944 (GRCm39) |
E1415* |
probably null |
Het |
| Lypd8l |
T |
A |
11: 58,501,513 (GRCm39) |
T157S |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,420,445 (GRCm39) |
C270G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,674,943 (GRCm39) |
V291A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,786,645 (GRCm39) |
F917S |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,998 (GRCm39) |
I9N |
possibly damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,121 (GRCm39) |
T274S |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,387 (GRCm39) |
Y9C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,672,467 (GRCm39) |
W34R |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,363 (GRCm39) |
F529S |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,048,961 (GRCm39) |
K273E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,846 (GRCm39) |
D215V |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,104,502 (GRCm39) |
M1K |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,316,165 (GRCm39) |
Y690F |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,570 (GRCm39) |
D124V |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,027,235 (GRCm39) |
D538Y |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,303,505 (GRCm39) |
V21M |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,688,023 (GRCm39) |
Y657F |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,617,836 (GRCm39) |
C360R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,374,363 (GRCm39) |
T257A |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,443,219 (GRCm39) |
M6K |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,113,849 (GRCm39) |
Y429H |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Taar3 |
T |
A |
10: 23,826,441 (GRCm39) |
F329Y |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,108 (GRCm39) |
N285K |
probably benign |
Het |
| Tcstv7b |
A |
G |
13: 120,702,384 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,996,430 (GRCm39) |
E4V |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,776,654 (GRCm39) |
I454F |
probably damaging |
Het |
| Tpr |
T |
G |
1: 150,308,316 (GRCm39) |
H1690Q |
probably benign |
Het |
| Trav18 |
T |
C |
14: 54,068,577 (GRCm39) |
S6P |
probably benign |
Het |
| Trf |
T |
C |
9: 103,096,445 (GRCm39) |
N25S |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,892 (GRCm39) |
M1V |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,552,268 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,943 (GRCm39) |
S222G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGTGGCTCCATACTTGG -3'
(R):5'- TGAACTGGTAACCTGAGGGAC -3'
Sequencing Primer
(F):5'- TACTTGGAACTGGACCAACTC -3'
(R):5'- CCTGTGTGCTCAACAGTTTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation