Incidental Mutation 'IGL02820:Brd8'
| ID |
360954 |
| 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 # |
IGL02820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34731668-34757654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34740354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 493
(S493L)
|
| 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
AA Change: S563L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: S563L
| 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: S490L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: S490L
| 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: S563L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: S563L
| 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: S493L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: S493L
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
T |
C |
12: 24,124,417 (GRCm39) |
Y86C |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,607,535 (GRCm39) |
V47M |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,912,921 (GRCm39) |
C349R |
possibly damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,914 (GRCm39) |
|
probably benign |
Het |
| Apobec2 |
A |
G |
17: 48,730,295 (GRCm39) |
S124P |
probably damaging |
Het |
| Cbln3 |
A |
G |
14: 56,120,944 (GRCm39) |
Y126H |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,364,721 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,219,411 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,699 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,478,834 (GRCm39) |
D718G |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,739,493 (GRCm39) |
Y979N |
probably damaging |
Het |
| Ddias |
T |
C |
7: 92,508,551 (GRCm39) |
T455A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,920,840 (GRCm39) |
R851G |
probably null |
Het |
| Dock1 |
T |
C |
7: 134,768,944 (GRCm39) |
V1771A |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,077,187 (GRCm39) |
L694Q |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,138 (GRCm39) |
Y77C |
probably benign |
Het |
| Fbxw22 |
A |
T |
9: 109,215,732 (GRCm39) |
I172N |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,688,040 (GRCm39) |
V800G |
possibly damaging |
Het |
| Gcm1 |
T |
C |
9: 77,971,844 (GRCm39) |
F262L |
probably benign |
Het |
| Gm21983 |
T |
C |
7: 26,879,605 (GRCm39) |
M121V |
probably benign |
Het |
| Gm9996 |
A |
T |
10: 29,019,657 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,876,074 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
G |
T |
19: 47,863,398 (GRCm39) |
E91D |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,492 (GRCm39) |
M222I |
possibly damaging |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,850 (GRCm39) |
D90G |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,326,854 (GRCm39) |
A40T |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,141,872 (GRCm39) |
E276K |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,813,034 (GRCm39) |
R1007C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,978,877 (GRCm39) |
M125K |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,643 (GRCm39) |
N1018K |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,895,290 (GRCm39) |
S186C |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,759,871 (GRCm39) |
T98S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,109,519 (GRCm39) |
T433A |
possibly damaging |
Het |
| Rdh13 |
C |
T |
7: 4,438,059 (GRCm39) |
V127M |
probably damaging |
Het |
| Rdh16 |
A |
G |
10: 127,649,470 (GRCm39) |
T309A |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,506,312 (GRCm39) |
D21E |
probably benign |
Het |
| Rptn |
A |
T |
3: 93,304,227 (GRCm39) |
N520I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,047,122 (GRCm39) |
L928P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,254,273 (GRCm39) |
I212V |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,870,332 (GRCm39) |
T71A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,359,353 (GRCm39) |
N89S |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,071 (GRCm39) |
S1535P |
probably damaging |
Het |
| Tmt1a |
C |
A |
15: 100,202,933 (GRCm39) |
S51* |
probably null |
Het |
| Uba7 |
A |
T |
9: 107,858,715 (GRCm39) |
S849C |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,439 (GRCm39) |
T472A |
probably benign |
Het |
| Wdr6 |
A |
G |
9: 108,455,743 (GRCm39) |
I17T |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,173 (GRCm39) |
V230I |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation