Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02064:Brd8'

185550

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brd8

Ensembl Gene

ENSMUSG00000003778

Gene Name

bromodomain containing 8

Synonyms

2610007E11Rik, 4432404P07Rik, SMAP, p120

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

34598615-34624601 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34602727 bp (GRCm38)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Brd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Brd8	APN	18	34609883	nonsense	probably null
IGL01734:Brd8	APN	18	34614805	splice site	probably benign
IGL02065:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02067:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02118:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02120:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02121:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02122:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02123:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02125:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02126:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02160:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02163:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02164:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02166:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02211:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02212:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02216:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02217:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02219:Brd8	APN	18	34602727	missense	probably damaging	1.00
IGL02397:Brd8	APN	18	34604873	missense	probably damaging	0.99
IGL02642:Brd8	APN	18	34608064	splice site	probably benign
IGL02820:Brd8	APN	18	34607301	missense	probably benign	0.01
IGL02942:Brd8	APN	18	34610627	missense	possibly damaging	0.92
IGL03121:Brd8	APN	18	34606687	missense	probably damaging	0.99
IGL03174:Brd8	APN	18	34604909	missense	probably damaging	1.00
IGL03304:Brd8	APN	18	34614580	splice site	probably benign
R0226:Brd8	UTSW	18	34603894	splice site	probably benign
R1269:Brd8	UTSW	18	34609804	critical splice donor site	probably null
R1654:Brd8	UTSW	18	34611226	missense	probably damaging	1.00
R1692:Brd8	UTSW	18	34609833	missense	probably damaging	0.99
R1714:Brd8	UTSW	18	34609833	missense	probably damaging	0.99
R1874:Brd8	UTSW	18	34610474	missense	probably damaging	1.00
R1965:Brd8	UTSW	18	34602766	missense	probably damaging	1.00
R1973:Brd8	UTSW	18	34608013	missense	probably damaging	1.00
R2069:Brd8	UTSW	18	34614479	missense	probably damaging	1.00
R3952:Brd8	UTSW	18	34614444	splice site	probably benign
R4411:Brd8	UTSW	18	34623444	unclassified	probably benign
R4634:Brd8	UTSW	18	34608484	missense	possibly damaging	0.78
R4650:Brd8	UTSW	18	34606699	missense	probably benign	0.06
R4919:Brd8	UTSW	18	34607436	missense	probably damaging	0.99
R4925:Brd8	UTSW	18	34607335	missense	probably benign	0.02
R4948:Brd8	UTSW	18	34614532	missense	probably damaging	1.00
R5328:Brd8	UTSW	18	34607981	missense	probably benign	0.29
R5489:Brd8	UTSW	18	34608645	splice site	probably null
R5841:Brd8	UTSW	18	34605523	missense	probably damaging	1.00
R6306:Brd8	UTSW	18	34611251	missense	probably damaging	0.97
R6320:Brd8	UTSW	18	34613239	missense	possibly damaging	0.68
R6808:Brd8	UTSW	18	34608475	missense	probably damaging	0.98
R7149:Brd8	UTSW	18	34604597	critical splice donor site	probably null
R7876:Brd8	UTSW	18	34606687	missense	probably benign	0.00
R8002:Brd8	UTSW	18	34608556	missense	probably benign	0.00
R8103:Brd8	UTSW	18	34607178	missense	probably benign
R8810:Brd8	UTSW	18	34609949	missense	probably benign	0.06

Posted On

2014-05-07