Mutagenetix > Incidental Mutation

Incidental Mutation 'R6727:Brd8dc'

529931

Institutional Source

Beutler Lab

Gene Symbol

Brd8dc

Ensembl Gene

ENSMUSG00000049357

Gene Name

BRD8 domain containing

Synonyms

4933408B17Rik

MMRRC Submission

044845-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34712899-34730521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34713894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 244 (M244L)

Ref Sequence

ENSEMBL: ENSMUSP00000054234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056932] [ENSMUST00000079287] [ENSMUST00000129566] [ENSMUST00000134875] [ENSMUST00000154342] [ENSMUST00000155114]

AlphaFold

G3X9B4

Predicted Effect

probably benign
Transcript: ENSMUST00000056932
AA Change: M244L

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: M244L

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
low complexity region	77	86	N/A	INTRINSIC
BROMO	153	261	8.66e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079287

SMART Domains

Protein: ENSMUSP00000078269
Gene: ENSMUSG00000035984

Domain	Start	End	E-Value	Type
NDK	12	150	1.9e-62	SMART
Pfam:Dpy-30	156	197	7.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129566

SMART Domains

Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357

Domain	Start	End	E-Value	Type
Blast:BROMO	20	197	5e-25	BLAST
SCOP:d1f68a_	161	204	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134875

SMART Domains

Protein: ENSMUSP00000118213
Gene: ENSMUSG00000035984

Domain	Start	End	E-Value	Type
NDK	12	113	2.91e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154342

SMART Domains

Protein: ENSMUSP00000117443
Gene: ENSMUSG00000035984

Domain	Start	End	E-Value	Type
NDK	12	113	2.91e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155114

Meta Mutation Damage Score

0.1577

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	A	G	5: 93,354,434 (GRCm39)		probably benign	Het
4930563M21Rik	C	T	9: 55,896,760 (GRCm39)	V283I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Allc	T	A	12: 28,607,388 (GRCm39)	H288L	probably damaging	Het
Atg16l1	T	C	1: 87,702,576 (GRCm39)	I279T	possibly damaging	Het
Atp6v1b1	A	G	6: 83,728,857 (GRCm39)		probably benign	Het
Barhl1	G	A	2: 28,805,495 (GRCm39)	P66L	probably benign	Het
Cfap58	A	T	19: 47,943,856 (GRCm39)	D352V	probably benign	Het
Cyp3a44	T	A	5: 145,731,781 (GRCm39)	K122*	probably null	Het
Dnai1	G	T	4: 41,625,308 (GRCm39)	R424L	probably benign	Het
Dync1li2	G	T	8: 105,167,167 (GRCm39)	H79Q	probably damaging	Het
Fem1b	A	G	9: 62,704,015 (GRCm39)	V415A	possibly damaging	Het
Fgb	C	T	3: 82,954,094 (GRCm39)	S48N	possibly damaging	Het
Gm5624	T	C	14: 44,799,332 (GRCm39)	D31G	possibly damaging	Het
Gzmn	T	A	14: 56,403,432 (GRCm39)	I226F	probably damaging	Het
H2-T5	A	T	17: 36,476,622 (GRCm39)	V284E	probably damaging	Het
Il31ra	T	C	13: 112,683,902 (GRCm39)	S184G	probably damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Kcnj15	A	G	16: 95,097,193 (GRCm39)	S272G	probably damaging	Het
Kcnk16	C	T	14: 20,312,997 (GRCm39)	A106T	probably benign	Het
Kmt2b	A	G	7: 30,283,984 (GRCm39)	V876A	probably damaging	Het
Large2	G	T	2: 92,201,215 (GRCm39)		probably benign	Het
Maml2	A	T	9: 13,532,847 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,464,851 (GRCm39)	L533P	possibly damaging	Het
Muc16	A	G	9: 18,477,986 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,419 (GRCm39)	T516K	probably damaging	Het
Or1l4	T	A	2: 37,092,118 (GRCm39)	N288K	probably damaging	Het
Or56b1	T	C	7: 104,285,094 (GRCm39)	I71T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Ppp2r1a	T	A	17: 21,176,087 (GRCm39)	V103E	probably benign	Het
Prl3d3	G	A	13: 27,341,147 (GRCm39)		probably null	Het
Rhbdf1	G	T	11: 32,164,042 (GRCm39)	A288E	possibly damaging	Het
Rnf213	T	C	11: 119,321,147 (GRCm39)	S1202P	possibly damaging	Het
Slc25a17	A	G	15: 81,222,154 (GRCm39)	V106A	probably benign	Het
Slc4a4	T	G	5: 89,318,624 (GRCm39)	S640A	probably benign	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Tek	G	T	4: 94,741,732 (GRCm39)	G830*	probably null	Het
Tgfb1	A	T	7: 25,388,587 (GRCm39)		probably benign	Het
Themis	T	C	10: 28,657,903 (GRCm39)	I157T	probably damaging	Het
Trmt12	A	G	15: 58,744,514 (GRCm39)		probably benign	Het
Trrap	T	C	5: 144,793,760 (GRCm39)	W3654R	probably damaging	Het
Tspan3	C	T	9: 56,054,724 (GRCm39)	G108S	probably damaging	Het
Ugt1a10	T	A	1: 87,983,979 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,770,829 (GRCm39)	K2091E	probably benign	Het
Wdr62	A	T	7: 29,971,045 (GRCm39)	V184D	probably damaging	Het
Zfp958	C	A	8: 4,678,247 (GRCm39)	Q90K	probably benign	Het

Other mutations in Brd8dc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02554:Brd8dc	APN	18	34,726,068 (GRCm39)	missense	probably benign	0.01
R0110:Brd8dc	UTSW	18	34,729,204 (GRCm39)	missense	probably damaging	0.96
R0510:Brd8dc	UTSW	18	34,729,204 (GRCm39)	missense	probably damaging	0.96
R0633:Brd8dc	UTSW	18	34,719,319 (GRCm39)	missense	possibly damaging	0.56
R1138:Brd8dc	UTSW	18	34,713,297 (GRCm39)	missense	probably benign	0.09
R4768:Brd8dc	UTSW	18	34,714,005 (GRCm39)	missense	probably damaging	1.00
R6670:Brd8dc	UTSW	18	34,719,319 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ATCCGGATCCATTAAGACAAGG -3'
(R):5'- CCTTACATACTAAGGTTGGATTTCC -3'

Sequencing Primer
(F):5'- CAAGAGTACCTTGGTCCTTCAGG -3'
(R):5'- ACATACTAAGGTTGGATTTCCTCTGG -3'

Posted On

2018-08-01