Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Brd8'

218329

Institutional Source

Beutler Lab

Gene Symbol

Brd8

Ensembl Gene

ENSMUSG00000003778

Gene Name

bromodomain containing 8

Synonyms

2610007E11Rik, SMAP, 4432404P07Rik, p120

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34731668-34757654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 34735819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 886 (A886G)

Ref Sequence

ENSEMBL: ENSMUSP00000003876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003876] [ENSMUST00000097626] [ENSMUST00000115765] [ENSMUST00000115766]

AlphaFold

Q8R3B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000003876
AA Change: A886G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003876
Gene: ENSMUSG00000003778
AA Change: A886G

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: A813G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095229
Gene: ENSMUSG00000003778
AA Change: A813G

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

possibly damaging
Transcript: ENSMUST00000115765
AA Change: A886G

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111431
Gene: ENSMUSG00000003778
AA Change: A886G

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: A816G

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111432
Gene: ENSMUSG00000003778
AA Change: A816G

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATGCAGATACCACTGGC -3'
(R):5'- TGCCATGTGACTTTAATTGCTGAAG -3'

Sequencing Primer
(F):5'- TGCTCACCTTCTCTGAAG -3'
(R):5'- ACTTTAATTGCTGAAGGCTCTTTGGC -3'

Posted On

2014-08-01