Mutagenetix > Incidental Mutation

Incidental Mutation 'R4582:Brd9'

343751

Institutional Source

Beutler Lab

Gene Symbol

Brd9

Ensembl Gene

ENSMUSG00000057649

Gene Name

bromodomain containing 9

Synonyms

MMRRC Submission

041803-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74085930-74109014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74095852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 366 (F366L)

Ref Sequence

ENSEMBL: ENSMUSP00000152390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099384] [ENSMUST00000222399] [ENSMUST00000223238]

AlphaFold

Q3UQU0

Predicted Effect

probably benign
Transcript: ENSMUST00000099384
AA Change: F367L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649
AA Change: F367L

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
coiled coil region	53	104	N/A	INTRINSIC
low complexity region	116	127	N/A	INTRINSIC
BROMO	134	242	1.52e-30	SMART
low complexity region	249	264	N/A	INTRINSIC
Pfam:DUF3512	274	505	1.6e-82	PFAM
low complexity region	544	557	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222191

Predicted Effect

probably benign
Transcript: ENSMUST00000222399
AA Change: F366L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000223238

Predicted Effect

unknown
Transcript: ENSMUST00000223525
AA Change: F301L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223446

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	A	T	15: 41,732,681 (GRCm39)	D128E	probably benign	Het
Akap11	A	T	14: 78,749,369 (GRCm39)	V1006E	possibly damaging	Het
Ankrd7	T	A	6: 18,868,020 (GRCm39)	N95K	probably damaging	Het
Brinp2	A	G	1: 158,095,508 (GRCm39)	F118L	probably damaging	Het
Ccdc138	T	C	10: 58,343,465 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,722,922 (GRCm39)	F189L	probably damaging	Het
Cfap45	A	G	1: 172,357,479 (GRCm39)	T36A	probably benign	Het
Clec4a1	G	T	6: 122,909,150 (GRCm39)	V173L	possibly damaging	Het
Col6a5	G	A	9: 105,739,963 (GRCm39)	T2552I	probably benign	Het
Dcaf15	A	G	8: 84,824,598 (GRCm39)	V533A	probably damaging	Het
Dhrs9	A	T	2: 69,227,997 (GRCm39)	I204F	probably damaging	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Eef1akmt1	T	C	14: 57,787,905 (GRCm39)	D151G	probably damaging	Het
Eif4g3	G	A	4: 137,898,556 (GRCm39)	R1109H	probably damaging	Het
Gtpbp10	T	C	5: 5,592,395 (GRCm39)	T191A	possibly damaging	Het
Hectd4	A	G	5: 121,424,482 (GRCm39)	N714S	possibly damaging	Het
Lima1	T	C	15: 99,678,873 (GRCm39)	T523A	possibly damaging	Het
Lipe	A	G	7: 25,097,127 (GRCm39)	L272P	probably benign	Het
Llgl2	A	G	11: 115,741,532 (GRCm39)	E554G	possibly damaging	Het
Lrrc66	T	C	5: 73,765,580 (GRCm39)	S488G	possibly damaging	Het
Man2a1	C	T	17: 65,059,494 (GRCm39)	A1127V	probably benign	Het
Naglu	A	T	11: 100,962,755 (GRCm39)	I187F	probably damaging	Het
Nt5c1b	T	A	12: 10,440,054 (GRCm39)	M548K	probably damaging	Het
Or10ak14	A	T	4: 118,611,090 (GRCm39)	I217N	probably damaging	Het
Or6c38	A	T	10: 128,929,027 (GRCm39)	V272E	possibly damaging	Het
Pcdha3	T	C	18: 37,080,485 (GRCm39)	V409A	probably benign	Het
Pde6b	A	T	5: 108,573,097 (GRCm39)		probably null	Het
Pkd2	A	T	5: 104,650,210 (GRCm39)	K857*	probably null	Het
Rfx4	T	A	10: 84,680,164 (GRCm39)	S114T	possibly damaging	Het
Sacs	G	A	14: 61,429,147 (GRCm39)	G402D	probably damaging	Het
Slc22a5	C	T	11: 53,782,035 (GRCm39)	E111K	probably damaging	Het
Sptbn1	G	A	11: 30,169,597 (GRCm39)	R44C	probably damaging	Het
Taf1	T	C	X: 100,637,601 (GRCm39)	V1696A	possibly damaging	Het
Tm9sf3	C	A	19: 41,244,605 (GRCm39)	G91C	probably damaging	Het
Tmie	T	G	9: 110,702,865 (GRCm39)	E32A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsga13	A	T	6: 30,879,298 (GRCm39)	N138K	probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a10	A	T	1: 87,983,463 (GRCm39)	D87V	possibly damaging	Het
Vdac3-ps1	A	T	13: 18,206,177 (GRCm39)		noncoding transcript	Het
Vmn1r29	A	C	6: 58,285,017 (GRCm39)	I246L	probably damaging	Het
Zbtb16	A	G	9: 48,743,382 (GRCm39)	V310A	probably benign	Het

Other mutations in Brd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Brd9	APN	13	74,086,666 (GRCm39)	missense	probably damaging	0.98
IGL01461:Brd9	APN	13	74,099,717 (GRCm39)	nonsense	probably null
IGL01928:Brd9	APN	13	74,103,630 (GRCm39)	missense	probably benign	0.02
R0379:Brd9	UTSW	13	74,090,802 (GRCm39)	splice site	probably benign
R0420:Brd9	UTSW	13	74,103,592 (GRCm39)	missense	probably benign
R0788:Brd9	UTSW	13	74,092,986 (GRCm39)	splice site	probably benign
R1539:Brd9	UTSW	13	74,092,862 (GRCm39)	missense	probably damaging	0.99
R4095:Brd9	UTSW	13	74,092,918 (GRCm39)	missense	probably benign	0.19
R4648:Brd9	UTSW	13	74,088,895 (GRCm39)	missense	probably benign	0.37
R4915:Brd9	UTSW	13	74,086,574 (GRCm39)	missense	probably damaging	0.99
R6054:Brd9	UTSW	13	74,088,860 (GRCm39)	missense	probably damaging	1.00
R6175:Brd9	UTSW	13	74,108,433 (GRCm39)	missense	probably damaging	0.98
R6462:Brd9	UTSW	13	74,088,788 (GRCm39)	missense	probably damaging	1.00
R6520:Brd9	UTSW	13	74,090,913 (GRCm39)	missense	probably benign	0.00
R7217:Brd9	UTSW	13	74,087,063 (GRCm39)	missense	probably damaging	1.00
R7360:Brd9	UTSW	13	74,092,942 (GRCm39)	missense	probably benign	0.07
R7422:Brd9	UTSW	13	74,102,697 (GRCm39)	missense	probably benign
R7556:Brd9	UTSW	13	74,092,886 (GRCm39)	missense	possibly damaging	0.83
R7844:Brd9	UTSW	13	74,086,652 (GRCm39)	missense	probably damaging	1.00
R9130:Brd9	UTSW	13	74,092,906 (GRCm39)	missense	probably damaging	0.97
Z1176:Brd9	UTSW	13	74,092,870 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTATCGATGTCAAGGCAATTAC -3'
(R):5'- TCCACCTACTTTAATGGAGCTAAGC -3'

Sequencing Primer
(F):5'- CGATGTCAAGGCAATTACTGAATC -3'
(R):5'- TGCAGACTTGATGTACCCAG -3'

Posted On

2015-09-24