Mutagenetix > Incidental Mutations

Incidental Mutation 'R7869:Brdt'

607964

Institutional Source

Beutler Lab

Gene Symbol

Brdt

Ensembl Gene

ENSMUSG00000029279

Gene Name

bromodomain, testis-specific

Synonyms

Fsrg3, 7420412D09Rik, Brd6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107331159-107387058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107370179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 723 (I723L)

Ref Sequence

ENSEMBL: ENSMUSP00000031215 (fasta)

Gene Model

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

AlphaFold

Q91Y44

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: I723L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: I723L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,184,135	R738C	possibly damaging	Het
Acot12	G	A	13: 91,771,725	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,873,703	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,360,304	N199K	probably damaging	Het
Asic2	T	C	11: 81,967,998	R63G	probably damaging	Het
Aspa	T	A	11: 73,313,552	M197L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
C2cd3	T	A	7: 100,469,491	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,410,526	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,476,529	A80E	probably damaging	Het
Cep135	T	C	5: 76,640,956	V1132A	probably benign	Het
Cep85	A	G	4: 134,132,298	C687R	probably damaging	Het
Cln5	A	G	14: 103,076,065	Y251C	probably damaging	Het
Crygc	A	G	1: 65,071,855	M91T	possibly damaging	Het
Ddt	T	C	10: 75,773,226	K33R	probably damaging	Het
Dhfr	G	A	13: 92,357,963	W58*	probably null	Het
Dhx40	T	C	11: 86,797,706	E297G	probably benign	Het
Dner	T	C	1: 84,383,881	Y669C	probably benign	Het
Dpys	G	T	15: 39,793,386	F428L	probably damaging	Het
Dspp	A	C	5: 104,175,665	T225P	probably damaging	Het
Elac2	A	G	11: 64,999,387	K656E	probably damaging	Het
Ern1	T	A	11: 106,459,019	R24*	probably null	Het
F2rl2	T	C	13: 95,701,011	I188T	probably damaging	Het
Fam83b	C	T	9: 76,492,144	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,051,222	F4584C	probably benign	Het
Gabra6	G	A	11: 42,316,495	T254I	possibly damaging	Het
Garem1	T	C	18: 21,299,700	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,421,990	L832*	probably null	Het
Gpr68	C	T	12: 100,879,238	D16N	probably benign	Het
Il17b	T	C	18: 61,692,409	I172T	probably damaging	Het
Ildr2	T	G	1: 166,309,292	S567A	probably benign	Het
Kalrn	A	G	16: 33,988,847	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,184,376	S1627P	probably benign	Het
Kif5a	G	A	10: 127,243,474	T285M	probably damaging	Het
Lrif1	G	A	3: 106,733,143		probably null	Het
Lrrn2	C	T	1: 132,939,378	T727I	unknown	Het
Lsg1	T	C	16: 30,564,722	E560G	probably benign	Het
Map4k4	C	A	1: 39,974,044	Q100K	unknown	Het
Mipep	A	T	14: 60,802,936	R302W	probably damaging	Het
Morf4l1	G	T	9: 90,093,791	T316K	probably damaging	Het
Mov10	A	T	3: 104,804,678	V126E	probably damaging	Het
Muc2	T	A	7: 141,749,734	C559S		Het
Myh7	A	G	14: 54,989,073	Y410H	probably damaging	Het
Nf1	T	A	11: 79,418,588	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,726,417	L79P	probably damaging	Het
Nol10	G	T	12: 17,358,238	S155I	probably null	Het
Olfr1208	T	C	2: 88,897,064	I178V	probably benign	Het
Olfr134	T	C	17: 38,175,939	L285P	possibly damaging	Het
Olfr1448	A	G	19: 12,919,547	I254T	probably benign	Het
Olfr668	T	A	7: 104,925,104	Y220F	probably damaging	Het
Pde3b	T	C	7: 114,494,687	S389P	probably benign	Het
Polr1c	C	T	17: 46,244,891	G188D	probably benign	Het
Prpf31	A	G	7: 3,630,860	M65V	probably benign	Het
Pum2	A	G	12: 8,713,595	T251A	probably benign	Het
Rabgap1	G	A	2: 37,487,130	V325I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017	Y203*	probably null	Het
Sac3d1	G	A	19: 6,118,426	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,240,251	I104V	probably benign	Het
Setd2	C	T	9: 110,550,014	Q966*	probably null	Het
Simc1	G	T	13: 54,503,900	D9Y	unknown	Het
Slc5a8	T	C	10: 88,921,705	L519S	probably benign	Het
Srcap	C	A	7: 127,539,194	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,147,736	L91P	probably damaging	Het
Stab1	T	C	14: 31,154,472	T887A	probably benign	Het
Sult2a6	A	G	7: 14,254,812	F8L	not run	Het
Thsd7a	A	T	6: 12,471,124	C498*	probably null	Het
Timp4	T	C	6: 115,250,394	I75V	probably benign	Het
Tspyl4	T	A	10: 34,298,100	M196K	probably damaging	Het
Ubr2	T	C	17: 46,991,008	E172G	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Unc13c	T	G	9: 73,694,877	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,052,120	V489A	probably damaging	Het
Vps39	T	C	2: 120,339,394	T226A	possibly damaging	Het
Zan	C	T	5: 137,473,601	E185K	probably damaging	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
R2029:Brdt	UTSW	5	107359224	missense	probably benign	0.35
R2431:Brdt	UTSW	5	107378015	splice site	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
R7887:Brdt	UTSW	5	107359933	missense	possibly damaging	0.66
R7972:Brdt	UTSW	5	107348549	missense	possibly damaging	0.53
R8064:Brdt	UTSW	5	107377996	nonsense	probably null
R8958:Brdt	UTSW	5	107378011	missense	probably benign
R9199:Brdt	UTSW	5	107350163	nonsense	probably null
R9346:Brdt	UTSW	5	107377014	missense	probably damaging	0.99
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'- CTTGATCCTCTCACCTGCAGAG -3'
(R):5'- AATGGCTGACTTGTGTTTCTTACC -3'

Sequencing Primer
(F):5'- CCCTAGCAGGACTCTGTGTGTG -3'
(R):5'- CCTGAAAGAGGCTGAGTCTGC -3'

Posted On

2019-12-20