Mutagenetix > Incidental Mutations

Incidental Mutation 'R2029:Brdt'

220937

Institutional Source

Beutler Lab

Gene Symbol

Brdt

Ensembl Gene

ENSMUSG00000029279

Gene Name

bromodomain, testis-specific

Synonyms

Fsrg3, 7420412D09Rik, Brd6

MMRRC Submission

040036-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107331159-107387058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107359224 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 497 (S497T)

Ref Sequence

ENSEMBL: ENSMUSP00000031215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031215]

PDB Structure

Structure of Brdt bromodomain 2 bound to an acetylated histone H3 peptide [X-RAY DIFFRACTION]
Structure of Brdt bromodomain BD1 bound to a diacetylated histone H4 peptide. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000031215
AA Change: S497T

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: S497T

Domain	Start	End	E-Value	Type
BROMO	24	134	2.7e-45	SMART
BROMO	268	377	2.18e-40	SMART
low complexity region	392	417	N/A	INTRINSIC
low complexity region	446	455	N/A	INTRINSIC
low complexity region	472	500	N/A	INTRINSIC
Pfam:BET	505	569	9.2e-34	PFAM
low complexity region	585	603	N/A	INTRINSIC
low complexity region	649	691	N/A	INTRINSIC
low complexity region	895	909	N/A	INTRINSIC
Pfam:BRD4_CDT	913	956	3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162804

Meta Mutation Damage Score

0.0692

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (97/99)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the BET protein family. BET proteins have two N-terminal bromodomains and one C-terminal extraterminal domain (ET domain). BET proteins regulate chromatin reorganization via binding to acetylated histones. This gene is thought to play a role in the transcriptional regulation of spermatogenesis. Although referred to as testis-specific bromodomain (Brdt) protein, RT-PCR indicates that this gene is expressed in both mouse oocytes and testes. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this genes leads to arrest of spermatogenesis and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,067,624	S68*	probably null	Het
9130409I23Rik	T	A	1: 181,054,931	I86K	probably benign	Het
Adam18	C	G	8: 24,650,877	G286A	probably damaging	Het
Adcy1	G	A	11: 7,139,142	A519T	probably benign	Het
AI314180	G	A	4: 58,844,165	R534*	probably null	Het
Anxa2	T	A	9: 69,464,480	S2T	possibly damaging	Het
Ap3m1	G	A	14: 21,039,149	S261L	possibly damaging	Het
Asna1	A	T	8: 85,019,774	Y148*	probably null	Het
Baz2b	A	T	2: 59,912,723		probably benign	Het
Cdh11	A	G	8: 102,679,772	F23S	probably benign	Het
Cdh16	A	C	8: 104,617,802	L540R	probably damaging	Het
Ces5a	A	T	8: 93,534,577	L74Q	probably damaging	Het
Cfap69	A	G	5: 5,604,306	S543P	probably damaging	Het
Cfap74	T	C	4: 155,442,081	I763T	possibly damaging	Het
Cma1	T	A	14: 55,943,734	R58S	possibly damaging	Het
Csmd3	C	T	15: 47,838,579	D1599N	probably damaging	Het
Cyld	A	G	8: 88,745,312	K857R	probably benign	Het
Cyp3a16	T	C	5: 145,451,857	D270G	probably damaging	Het
D1Pas1	T	C	1: 186,968,089	S72P	possibly damaging	Het
Ddx3y	T	C	Y: 1,266,389	E331G	probably benign	Het
Dis3l2	T	C	1: 86,854,467		probably benign	Het
Dopey1	G	T	9: 86,521,365	W1539C	probably damaging	Het
Dopey2	A	G	16: 93,769,435	K917E	probably benign	Het
Efcab3	T	C	11: 105,100,025	I5462T	probably damaging	Het
Epo	A	G	5: 137,485,185		probably benign	Het
Figla	T	A	6: 86,020,642		probably benign	Het
Flvcr1	T	C	1: 191,021,156	D273G	probably benign	Het
Fryl	T	A	5: 73,022,122	R304*	probably null	Het
Gcm1	T	G	9: 78,065,044	D422E	possibly damaging	Het
Ggt6	A	G	11: 72,437,541	D251G	possibly damaging	Het
Git2	A	G	5: 114,766,450		probably null	Het
Gm18856	A	T	13: 13,964,791		probably benign	Het
Gm20939	T	A	17: 94,875,824		probably benign	Het
Gm5039	A	T	12: 88,321,421	S21T	unknown	Het
Gm7534	T	C	4: 134,202,358	K212R	possibly damaging	Het
Gpr176	A	G	2: 118,279,432	Y449H	probably benign	Het
H2-Eb1	A	G	17: 34,314,392	E196G	probably damaging	Het
H2-M10.6	A	G	17: 36,813,907	T239A	possibly damaging	Het
Haus5	T	C	7: 30,659,400	N237S	possibly damaging	Het
Hectd3	T	C	4: 117,000,685	M605T	probably damaging	Het
Hps3	T	C	3: 20,030,527	I166V	probably benign	Het
Ighv5-21	A	T	12: 114,322,814		probably benign	Het
Kdm6b	C	T	11: 69,403,592	G1218D	unknown	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Kmt2a	A	T	9: 44,818,450	S3523R	probably benign	Het
Lnpep	A	T	17: 17,568,399	N481K	probably damaging	Het
Lrp1b	T	C	2: 41,341,849	H1203R	probably benign	Het
Lrrc8a	C	T	2: 30,256,649	R492W	probably damaging	Het
Magel2	T	A	7: 62,380,594	V1082D	unknown	Het
Memo1	A	C	17: 74,245,054	H82Q	probably null	Het
Myh13	A	T	11: 67,361,289	T1408S	probably benign	Het
Myh2	A	T	11: 67,194,625	N1792Y	possibly damaging	Het
Myo1e	A	T	9: 70,368,687	N728I	possibly damaging	Het
Myo1e	T	C	9: 70,378,715		probably benign	Het
Myo5c	T	C	9: 75,289,055		probably benign	Het
Olfr1205	T	A	2: 88,831,405	M96K	possibly damaging	Het
Olfr323	T	A	11: 58,625,493	L184F	probably damaging	Het
Olfr378	A	G	11: 73,425,362	V207A	probably benign	Het
Olfr578	T	A	7: 102,984,271	T298S	probably damaging	Het
Olfr594	T	C	7: 103,219,760	F14S	probably damaging	Het
Olfr715b	T	C	7: 107,106,436	I142V	probably benign	Het
Parp2	C	T	14: 50,810,086	A18V	probably benign	Het
Peli1	T	A	11: 21,148,110	C282S	probably damaging	Het
Piezo2	T	C	18: 63,118,935	M404V	possibly damaging	Het
Pkn1	T	A	8: 83,677,963	Q496L	possibly damaging	Het
Pla2r1	A	T	2: 60,431,973	F1093L	probably damaging	Het
Ppp2r3a	A	G	9: 101,145,481	V323A	probably damaging	Het
Pramef25	T	A	4: 143,949,883	Y217F	probably benign	Het
Prg2	C	T	2: 84,981,998		probably benign	Het
Ptprb	G	A	10: 116,347,053	G1545S	probably benign	Het
Rbm19	A	G	5: 120,120,242	D174G	possibly damaging	Het
Rhbdf2	T	A	11: 116,601,148	T526S	probably damaging	Het
Rpusd4	A	G	9: 35,268,014	N42S	probably benign	Het
Ryr3	T	A	2: 112,647,016	Q4455L	possibly damaging	Het
Sema4a	G	T	3: 88,451,361	H30Q	probably damaging	Het
Skint1	G	A	4: 112,021,456		probably null	Het
Slc1a3	A	G	15: 8,645,669	V284A	probably benign	Het
Slc30a9	A	T	5: 67,339,975	K288*	probably null	Het
Slc36a1	G	T	11: 55,228,338	A380S	probably benign	Het
Slc47a1	G	A	11: 61,378,007		probably benign	Het
Snx19	A	T	9: 30,429,000	E478V	probably benign	Het
Spag6	T	C	2: 18,734,105		probably benign	Het
Stag1	A	T	9: 100,786,687	T223S	probably damaging	Het
Terb1	A	T	8: 104,498,100		probably benign	Het
Terf1	A	G	1: 15,805,946	D90G	possibly damaging	Het
Tex15	A	G	8: 33,571,274	D518G	probably damaging	Het
Tmem174	T	A	13: 98,637,038	M95L	possibly damaging	Het
Tnnt3	GTCCAGGCATCTC	GTC	7: 142,512,627		probably benign	Het
Usp28	A	G	9: 48,985,503	D8G	probably benign	Het
Vmn2r105	T	C	17: 20,224,578	T551A	probably damaging	Het
Vmn2r107	A	G	17: 20,375,287	I701V	probably benign	Het
Vmn2r13	A	C	5: 109,192,077	F11V	probably benign	Het
Vmn2r85	G	C	10: 130,425,574	S298*	probably null	Het
Wdr6	C	G	9: 108,575,355	W443S	probably damaging	Het
Wipi1	A	G	11: 109,583,190	V210A	probably damaging	Het
Zfp317	A	G	9: 19,645,236	T47A	probably benign	Het
Zfp61	T	C	7: 24,292,289	T146A	probably benign	Het
Zfp964	A	G	8: 69,663,917	E389G	unknown	Het
Zfyve16	T	C	13: 92,504,477	D1253G	probably damaging	Het
Zswim7	G	A	11: 62,267,473		probably benign	Het

Other mutations in Brdt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Brdt	APN	5	107342203	missense	probably damaging	1.00
IGL02718:Brdt	APN	5	107350068	splice site	probably benign
IGL02746:Brdt	APN	5	107370324	missense	probably benign
IGL02851:Brdt	APN	5	107377995	missense	possibly damaging	0.47
R0585:Brdt	UTSW	5	107356882	critical splice donor site	probably null
R0708:Brdt	UTSW	5	107358900	nonsense	probably null
R1338:Brdt	UTSW	5	107350188	missense	probably benign	0.02
R1710:Brdt	UTSW	5	107343584	missense	probably damaging	1.00
R1794:Brdt	UTSW	5	107359853	small deletion	probably benign
R1861:Brdt	UTSW	5	107359458	missense	probably benign
R1913:Brdt	UTSW	5	107348613	missense	probably benign
R2431:Brdt	UTSW	5	107378015	synonymous	probably null
R3121:Brdt	UTSW	5	107377145	missense	probably damaging	0.99
R3122:Brdt	UTSW	5	107377145	missense	probably damaging	0.99
R4258:Brdt	UTSW	5	107359909	missense	probably damaging	0.97
R4609:Brdt	UTSW	5	107359936	missense	probably benign	0.00
R5306:Brdt	UTSW	5	107345144	missense	probably damaging	1.00
R5640:Brdt	UTSW	5	107359308	nonsense	probably null
R5677:Brdt	UTSW	5	107348617	missense	possibly damaging	0.85
R5936:Brdt	UTSW	5	107359395	missense	probably damaging	1.00
R6145:Brdt	UTSW	5	107377999	missense	possibly damaging	0.67
R6261:Brdt	UTSW	5	107348503	missense	probably benign	0.04
R6408:Brdt	UTSW	5	107385492	missense	probably damaging	1.00
R6930:Brdt	UTSW	5	107359215	missense	probably benign	0.35
R7372:Brdt	UTSW	5	107370294	missense	possibly damaging	0.49
R7741:Brdt	UTSW	5	107358886	missense	probably benign	0.00
R7842:Brdt	UTSW	5	107348588	missense	possibly damaging	0.49
R7869:Brdt	UTSW	5	107370179	missense	probably benign	0.04
R7887:Brdt	UTSW	5	107359933	missense	possibly damaging	0.66
R7925:Brdt	UTSW	5	107348588	missense	possibly damaging	0.49
R7952:Brdt	UTSW	5	107370179	missense	probably benign	0.04
R8064:Brdt	UTSW	5	107377996	nonsense	probably null
X0011:Brdt	UTSW	5	107342128	missense	probably damaging	0.96
X0011:Brdt	UTSW	5	107377092	missense	probably damaging	1.00
Z1176:Brdt	UTSW	5	107359898	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CAGTGAAGGACCACACAGTTAGC -3'
(R):5'- CAGACAGGCCAGGACATACTTC -3'

Sequencing Primer
(F):5'- GGACCACACAGTTAGCCTATGTG -3'
(R):5'- ATGCCTTCAGGGTCTCAAAG -3'

Posted On

2014-08-25