Mutagenetix > Incidental Mutations

Incidental Mutation 'R6462:Brd9'

517648

Institutional Source

Beutler Lab

Gene Symbol

Brd9

Ensembl Gene

ENSMUSG00000057649

Gene Name

bromodomain containing 9

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73937811-73960895 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73940669 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 171 (A171V)

Ref Sequence

ENSEMBL: ENSMUSP00000152257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022053] [ENSMUST00000099384] [ENSMUST00000222399] [ENSMUST00000222749] [ENSMUST00000223238]

Predicted Effect

probably benign
Transcript: ENSMUST00000022053

SMART Domains

Protein: ENSMUSP00000022053
Gene: ENSMUSG00000021569

Domain	Start	End	E-Value	Type
AAA	171	323	1.13e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099384
AA Change: A162V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649
AA Change: A162V

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: ENSMUST00000222191

Predicted Effect

probably damaging
Transcript: ENSMUST00000222399
AA Change: A162V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222749
AA Change: A171V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000223017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223063

Predicted Effect

probably benign
Transcript: ENSMUST00000223238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223455

Predicted Effect

unknown
Transcript: ENSMUST00000223525
AA Change: A76V

Meta Mutation Damage Score

0.2694

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.6%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc1a	C	T	5: 145,108,387	S362F	probably benign	Het
Camta1	A	G	4: 151,086,164	V62A	probably damaging	Het
Cdc5l	G	A	17: 45,393,049	R750C	probably benign	Het
Ctdp1	C	T	18: 80,420,474	E116K	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epor	T	C	9: 21,959,255	E443G	probably benign	Het
Fam90a1a	A	T	8: 21,959,282	Q14L	probably benign	Het
Herc4	T	C	10: 63,289,101	L498P	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Lmod2	T	G	6: 24,604,301	V425G	probably benign	Het
Ly6c1	T	A	15: 75,044,329		probably benign	Het
Me2	C	A	18: 73,775,399	V490F	probably benign	Het
Mllt3	T	C	4: 87,774,101	T27A	probably damaging	Het
Mmp1a	T	C	9: 7,467,038	Y239H	probably benign	Het
Mycbp2	A	G	14: 103,136,557		probably null	Het
Myo15b	A	C	11: 115,859,442	E346A	probably benign	Het
Myo3a	T	C	2: 22,558,411	F66S	probably damaging	Het
Ncor2	T	C	5: 125,024,172	Y137C	probably damaging	Het
Nup98	A	T	7: 102,195,016	F37L	probably benign	Het
Odf2l	T	G	3: 145,146,911	L472R	probably damaging	Het
Olfr118	T	C	17: 37,672,220	Y66H	probably damaging	Het
P4ha3	T	A	7: 100,314,666	I463N	probably damaging	Het
Pappa	C	A	4: 65,124,891	T117K	probably damaging	Het
Ppme1	C	A	7: 100,338,392	R271M	probably benign	Het
Rps6ka4	T	G	19: 6,837,589	E249A	possibly damaging	Het
Rxfp1	T	A	3: 79,648,289	I587F	probably benign	Het
Sipa1l2	A	G	8: 125,491,230	V456A	probably damaging	Het
Slc25a23	T	A	17: 57,052,720	I344F	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Tbc1d10c	T	C	19: 4,184,894	I389M	possibly damaging	Het
Tep1	A	G	14: 50,844,379	F1205L	probably benign	Het
Tgfbr1	T	A	4: 47,402,846	H214Q	probably damaging	Het
Traf3ip2	T	A	10: 39,639,247	N340K	probably benign	Het
Wdr60	T	C	12: 116,229,631	N567S	probably benign	Het
Zbbx	T	C	3: 75,078,659	E362G	probably benign	Het
Zfp46	A	C	4: 136,290,613	T253P	probably damaging	Het

Other mutations in Brd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Brd9	APN	13	73938547	missense	probably damaging	0.98
IGL01461:Brd9	APN	13	73951598	nonsense	probably null
IGL01928:Brd9	APN	13	73955511	missense	probably benign	0.02
R0379:Brd9	UTSW	13	73942683	splice site	probably benign
R0420:Brd9	UTSW	13	73955473	missense	probably benign
R0788:Brd9	UTSW	13	73944867	splice site	probably benign
R1539:Brd9	UTSW	13	73944743	missense	probably damaging	0.99
R4095:Brd9	UTSW	13	73944799	missense	probably benign	0.19
R4582:Brd9	UTSW	13	73947733	missense	probably benign	0.00
R4648:Brd9	UTSW	13	73940776	missense	probably benign	0.37
R4915:Brd9	UTSW	13	73938455	missense	probably damaging	0.99
R6054:Brd9	UTSW	13	73940741	missense	probably damaging	1.00
R6175:Brd9	UTSW	13	73960314	missense	probably damaging	0.98
R6520:Brd9	UTSW	13	73942794	missense	probably benign	0.00
R7217:Brd9	UTSW	13	73938944	missense	probably damaging	1.00
R7360:Brd9	UTSW	13	73944823	missense	probably benign	0.07
R7422:Brd9	UTSW	13	73954578	missense	probably benign
R7556:Brd9	UTSW	13	73944767	missense	possibly damaging	0.83
R7844:Brd9	UTSW	13	73938533	missense	probably damaging	1.00
Z1176:Brd9	UTSW	13	73944751	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTGTTGTGCTGCCTCCAG -3'
(R):5'- ATGCATGCACCCACAGTTTTAC -3'

Sequencing Primer
(F):5'- CACTGCCTGTCATGGGTAGAG -3'
(R):5'- TGCACCCACAGTTTTACAAACATTG -3'

Posted On

2018-05-21