Incidental Mutation 'R6320:Brd8'
| ID |
510127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd8
|
| Ensembl Gene |
ENSMUSG00000003778 |
| Gene Name |
bromodomain containing 8 |
| Synonyms |
2610007E11Rik, SMAP, 4432404P07Rik, p120 |
| MMRRC Submission |
044475-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34746292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 139
(D139E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003876]
[ENSMUST00000097626]
[ENSMUST00000115765]
[ENSMUST00000115766]
|
| AlphaFold |
Q8R3B7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003876
AA Change: D139E
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: D139E
| 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 |
possibly damaging
Transcript: ENSMUST00000097626
AA Change: D139E
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: D139E
| 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: D139E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: D139E
| 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: D139E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: D139E
| 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
|
| Meta Mutation Damage Score |
0.0582 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
G |
T |
3: 20,369,943 (GRCm39) |
A221D |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,559,005 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,039,194 (GRCm39) |
D475N |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,186 (GRCm39) |
T290I |
probably benign |
Het |
| Cacna1e |
C |
A |
1: 154,317,270 (GRCm39) |
V1467F |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,086 (GRCm39) |
D445G |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,123 (GRCm39) |
L290H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,785,160 (GRCm39) |
Q3025K |
probably benign |
Het |
| Chi3l1 |
T |
A |
1: 134,109,996 (GRCm39) |
M1K |
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,808,737 (GRCm39) |
S1404P |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,285,006 (GRCm39) |
C3470F |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,331 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
G |
T |
2: 170,328,704 (GRCm39) |
T408K |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,577 (GRCm39) |
I181F |
possibly damaging |
Het |
| Dnm1l |
A |
T |
16: 16,149,952 (GRCm39) |
I268N |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,464,517 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,005,613 (GRCm39) |
F701S |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,466 (GRCm39) |
S362P |
possibly damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,830 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
C |
8: 106,063,982 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,062 (GRCm39) |
V2448D |
probably damaging |
Het |
| Gm2696 |
G |
T |
10: 77,671,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,685,874 (GRCm39) |
S214P |
possibly damaging |
Het |
| Krt6a |
A |
G |
15: 101,600,744 (GRCm39) |
V308A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,684,833 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,394,877 (GRCm39) |
N183Y |
probably benign |
Het |
| Mapk8ip3 |
C |
A |
17: 25,125,879 (GRCm39) |
G422V |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,746,325 (GRCm39) |
S97P |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,024 (GRCm39) |
V7E |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,248,900 (GRCm39) |
L711P |
probably damaging |
Het |
| Naga |
T |
A |
15: 82,216,404 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
G |
9: 44,159,980 (GRCm39) |
V380A |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,524,953 (GRCm39) |
T176S |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,115,582 (GRCm39) |
N232D |
probably benign |
Het |
| Or1j21 |
C |
G |
2: 36,683,585 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,823,418 (GRCm39) |
I92L |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,603 (GRCm39) |
F252S |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,835 (GRCm39) |
R317W |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,710,173 (GRCm39) |
C373S |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,602,327 (GRCm39) |
D39E |
probably benign |
Het |
| Psg16 |
G |
A |
7: 16,822,112 (GRCm39) |
G23D |
probably damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,349,111 (GRCm39) |
I150K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Sart3 |
A |
T |
5: 113,889,301 (GRCm39) |
Y508N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,054,148 (GRCm39) |
N267K |
probably benign |
Het |
| Slc26a7 |
A |
G |
4: 14,524,498 (GRCm39) |
I462T |
probably benign |
Het |
| Slu7 |
C |
T |
11: 43,332,316 (GRCm39) |
A244V |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,548,671 (GRCm39) |
P319L |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
| Strc |
T |
A |
2: 121,205,439 (GRCm39) |
D25V |
probably benign |
Het |
| Syne2 |
T |
G |
12: 76,108,424 (GRCm39) |
V936G |
probably damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,306,409 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
C |
A |
8: 105,173,831 (GRCm39) |
D751Y |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,603,303 (GRCm39) |
Y410H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,089,043 (GRCm39) |
N333D |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,402,520 (GRCm39) |
S2438P |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,353,072 (GRCm39) |
V189A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,774,810 (GRCm39) |
G284D |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,776 (GRCm39) |
S2271P |
probably damaging |
Het |
| Zscan18 |
G |
A |
7: 12,509,147 (GRCm39) |
|
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 |
|
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 |
|
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'- TAAACTCAGCTCACCCTGGTAC -3'
(R):5'- GCTGTGAAATGTGTCCACCTG -3'
Sequencing Primer
(F):5'- TCACCCTGGTACGCAGCATC -3'
(R):5'- GTCTACACAGTGAGTTCCAGGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation