Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01928:Brd9'

180351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brd9

Ensembl Gene

ENSMUSG00000057649

Gene Name

bromodomain containing 9

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01928

Quality Score

Status

Chromosome

Chromosomal Location

74085930-74109014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74103630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 503 (M503I)

Ref Sequence

ENSEMBL: ENSMUSP00000152390 (fasta)

Gene Model

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

AlphaFold

Q3UQU0

Predicted Effect

probably benign
Transcript: ENSMUST00000099384
AA Change: M504I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649
AA Change: M504I

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: ENSMUST00000221324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222191

Predicted Effect

probably benign
Transcript: ENSMUST00000222399
AA Change: M503I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223446

Predicted Effect

probably benign
Transcript: ENSMUST00000223525

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,633,342 (GRCm39)	T5024S	probably benign	Het
Adam23	C	A	1: 63,596,605 (GRCm39)	N562K	probably damaging	Het
Cyp2j8	A	T	4: 96,358,713 (GRCm39)		probably benign	Het
Erich6	T	C	3: 58,528,692 (GRCm39)	I519M	probably damaging	Het
Fscn3	A	G	6: 28,430,181 (GRCm39)	E117G	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm45234	A	G	6: 124,721,967 (GRCm39)		probably benign	Het
Ighv1-47	T	A	12: 114,954,913 (GRCm39)	M56L	probably benign	Het
Klf4	A	G	4: 55,530,949 (GRCm39)	L45P	probably benign	Het
Ksr1	A	C	11: 78,935,665 (GRCm39)		probably null	Het
L3mbtl3	T	C	10: 26,206,143 (GRCm39)	N341S	unknown	Het
Mfsd12	T	C	10: 81,201,622 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,074,847 (GRCm39)		probably benign	Het
Ntrk2	T	A	13: 58,994,665 (GRCm39)	C194S	probably damaging	Het
Olfm4	G	A	14: 80,249,392 (GRCm39)	V170I	possibly damaging	Het
Onecut1	C	A	9: 74,796,815 (GRCm39)	Q445K	possibly damaging	Het
Or8g22	A	C	9: 38,958,709 (GRCm39)	D46E	unknown	Het
Pak6	A	G	2: 118,520,345 (GRCm39)	Q112R	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 79,011,270 (GRCm39)	E124K	probably damaging	Het
Snx14	T	C	9: 88,263,565 (GRCm39)	T893A	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spag17	T	C	3: 99,847,390 (GRCm39)		probably benign	Het
Tgds	T	C	14: 118,353,541 (GRCm39)	T259A	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zc3h12a	A	G	4: 125,013,779 (GRCm39)	S362P	probably benign	Het
Zfyve16	A	G	13: 92,641,006 (GRCm39)	I1246T	probably damaging	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
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
R4582:Brd9	UTSW	13	74,095,852 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07