Mutagenetix > Incidental Mutation

Incidental Mutation 'R1138:Brd8dc'

95323

Institutional Source

Beutler Lab

Gene Symbol

Brd8dc

Ensembl Gene

ENSMUSG00000049357

Gene Name

BRD8 domain containing

Synonyms

4933408B17Rik

MMRRC Submission

039211-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34712899-34730521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34713297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 258 (V258I)

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: V258I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: V258I

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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,497 (GRCm39)	N974K	probably benign	Het
Bub1b	C	T	2: 118,453,570 (GRCm39)	T467I	probably benign	Het
Bzw1	T	C	1: 58,440,545 (GRCm39)	Y173H	probably damaging	Het
Chl1	A	G	6: 103,670,140 (GRCm39)	D526G	probably benign	Het
Dnajc22	AGACACT	A	15: 99,002,308 (GRCm39)		probably benign	Het
Dstyk	A	G	1: 132,391,224 (GRCm39)	N920S	probably benign	Het
Glra3	A	G	8: 56,542,011 (GRCm39)		probably null	Het
Hpgd	G	A	8: 56,760,712 (GRCm39)	M136I	probably benign	Het
Igfbp2	A	G	1: 72,888,257 (GRCm39)	D133G	probably damaging	Het
Lin54	A	G	5: 100,591,993 (GRCm39)	M642T	probably damaging	Het
Map7d1	T	C	4: 126,135,912 (GRCm39)	T99A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,851,150 (GRCm39)	C35Y	probably damaging	Het
Mycbp2	G	T	14: 103,412,262 (GRCm39)	N2570K	possibly damaging	Het
Nr4a2	T	C	2: 57,002,391 (GRCm39)	S21G	probably damaging	Het
Oacyl	T	A	18: 65,858,521 (GRCm39)	L209Q	probably damaging	Het
Or4c125	T	C	2: 89,170,434 (GRCm39)	I71V	probably benign	Het
Pkd1	C	A	17: 24,805,006 (GRCm39)	N3218K	probably damaging	Het
Scyl3	A	G	1: 163,761,234 (GRCm39)	N46S	possibly damaging	Het
Sh2d3c	G	T	2: 32,639,417 (GRCm39)	R349L	probably benign	Het
Siae	G	A	9: 37,553,988 (GRCm39)	R366H	probably damaging	Het
Tmem108	T	C	9: 103,376,168 (GRCm39)	N427S	possibly damaging	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
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
R6727:Brd8dc	UTSW	18	34,713,894 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CATCTGCAAGCACCATTGGCTTC -3'
(R):5'- GTGCTGGACTCACTGACAATGTCTC -3'

Sequencing Primer
(F):5'- AGGCAAGGCATTACTGTCC -3'
(R):5'- GGACTCACTGACAATGTCTCATTTG -3'

Posted On

2014-01-05