Mutagenetix > Incidental Mutation

Incidental Mutation 'R4768:Brd8dc'

366303

Institutional Source

Beutler Lab

Gene Symbol

Brd8dc

Ensembl Gene

ENSMUSG00000049357

Gene Name

BRD8 domain containing

Synonyms

4933408B17Rik

MMRRC Submission

042409-MU

Accession Numbers

Essential gene?

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

Stock #

R4768 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34712899-34730521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34714005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 207 (R207G)

Ref Sequence

ENSEMBL: ENSMUSP00000054234 (fasta)

Gene Model

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

AlphaFold

G3X9B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056932
AA Change: R207G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: R207G

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,628,579 (GRCm39)	Y419H	probably benign	Het
Adam28	A	G	14: 68,872,264 (GRCm39)	V326A	possibly damaging	Het
Amdhd1	T	A	10: 93,370,346 (GRCm39)	E164V	possibly damaging	Het
Arhgap5	T	C	12: 52,604,275 (GRCm39)	L29S	probably damaging	Het
Asb5	G	A	8: 55,038,031 (GRCm39)	D185N	probably benign	Het
Ascc3	T	C	10: 50,576,595 (GRCm39)	I850T	probably damaging	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
Bmp4	C	T	14: 46,623,381 (GRCm39)	R55Q	probably damaging	Het
Cmas	T	C	6: 142,710,157 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,420,827 (GRCm39)	D531G	possibly damaging	Het
Etv1	T	C	12: 38,877,792 (GRCm39)	L44P	probably damaging	Het
Fam13c	T	A	10: 70,387,580 (GRCm39)	I448N	probably damaging	Het
Fcsk	T	C	8: 111,618,766 (GRCm39)	T331A	probably benign	Het
Fut8	A	G	12: 77,412,054 (GRCm39)	K135E	probably benign	Het
Gabrg1	A	G	5: 70,911,516 (GRCm39)	F370S	probably damaging	Het
Ighv1-5	A	T	12: 114,477,143 (GRCm39)	M53K	probably damaging	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Krt27	T	A	11: 99,240,351 (GRCm39)	D189V	probably damaging	Het
Marf1	A	T	16: 13,949,461 (GRCm39)	F1033I	possibly damaging	Het
Mdfi	G	A	17: 48,135,475 (GRCm39)	T85M	probably damaging	Het
Mrgpra3	C	A	7: 47,239,476 (GRCm39)	R150L	possibly damaging	Het
Mst1r	C	A	9: 107,788,849 (GRCm39)	T456K	probably damaging	Het
Myh14	A	T	7: 44,263,099 (GRCm39)	M1734K	probably benign	Het
Myo1e	T	C	9: 70,277,751 (GRCm39)	I816T	possibly damaging	Het
Or7d10	A	C	9: 19,831,841 (GRCm39)	N112T	possibly damaging	Het
Or8b12	T	C	9: 37,658,177 (GRCm39)	L249P	probably damaging	Het
Or8b55	T	A	9: 38,727,245 (GRCm39)	Y149N	probably damaging	Het
Or8k28	A	T	2: 86,285,994 (GRCm39)	L207*	probably null	Het
Pde4d	A	G	13: 110,070,408 (GRCm39)	R6G	probably damaging	Het
Pilrb1	G	A	5: 137,855,788 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,085,334 (GRCm39)	Y199H	probably damaging	Het
Rxfp1	T	C	3: 79,594,175 (GRCm39)	D73G	probably damaging	Het
Ryr1	G	T	7: 28,704,246 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,057,284 (GRCm39)	E1068G	probably damaging	Het
Slc19a3	G	A	1: 83,000,834 (GRCm39)	T61I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Suclg2	T	G	6: 95,543,469 (GRCm39)	I321L	probably damaging	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Ttn	C	T	2: 76,599,110 (GRCm39)		probably benign	Het
Upp2	T	C	2: 58,667,907 (GRCm39)	V182A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,602 (GRCm39)	L151P	probably damaging	Het
Xylt2	T	C	11: 94,561,298 (GRCm39)	D155G	probably benign	Het
Zzz3	A	G	3: 152,154,420 (GRCm39)	D557G	probably 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
R1138:Brd8dc	UTSW	18	34,713,297 (GRCm39)	missense	probably benign	0.09
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'- CAGTCCGCGTTAGACAGTAC -3'
(R):5'- CCAGTTCTCTAGAGCTTGCTGTAG -3'

Sequencing Primer
(F):5'- CGTTAGACAGTACCTGGATCTGC -3'
(R):5'- GTCCTGTCTGCTCTGGGAC -3'

Posted On

2015-12-21