Mutagenetix > Incidental Mutation

Incidental Mutation 'R5640:Brdt'

440597

Institutional Source

Beutler Lab

Gene Symbol

Brdt

Ensembl Gene

ENSMUSG00000029279

Gene Name

bromodomain, testis-specific

Synonyms

Fsrg3, 7420412D09Rik, Brd6

MMRRC Submission

043289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107331159-107387058 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107359308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 525 (K525*)

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 null
Transcript: ENSMUST00000031215
AA Change: K525*

SMART Domains

Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279
AA Change: K525*

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,970,685	Y220C	probably damaging	Het
Actl6a	A	G	3: 32,718,050	T170A	probably damaging	Het
Adamts8	T	C	9: 30,956,500	V540A	probably benign	Het
Aga	T	C	8: 53,511,884	L27P	probably damaging	Het
Agmat	T	A	4: 141,755,823	H189Q	probably damaging	Het
Alx3	C	A	3: 107,600,661	T162K	probably damaging	Het
Armc2	T	A	10: 42,011,898	I30L	possibly damaging	Het
Arntl	C	T	7: 113,308,681	P530L	probably damaging	Het
Atp10d	T	G	5: 72,247,209	Y487D	probably damaging	Het
Atp13a4	C	T	16: 29,415,831	M908I	probably damaging	Het
B4galt2	T	G	4: 117,873,998	N322T	probably benign	Het
Ces3a	T	A	8: 105,051,745	M246K	probably benign	Het
Chd9	T	A	8: 91,036,562	H2338Q	probably damaging	Het
Cyp3a16	T	A	5: 145,452,823	D244V	possibly damaging	Het
Dhrs9	C	A	2: 69,394,478	A170E	probably damaging	Het
Dlg5	T	C	14: 24,170,461	N550D	probably damaging	Het
Dnah8	C	T	17: 30,803,108	T3894I	probably damaging	Het
Dpys	T	C	15: 39,842,066	H217R	probably damaging	Het
Dpysl2	C	T	14: 66,834,368	V108I	probably benign	Het
Eprs	A	G	1: 185,374,184	T199A	probably benign	Het
Fads1	A	G	19: 10,186,403	D183G	probably damaging	Het
Fam110b	T	G	4: 5,798,689	Y36D	probably damaging	Het
Fbxl21	G	A	13: 56,537,381	D407N	probably benign	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gm8251	T	C	1: 44,061,927	I4V	probably benign	Het
Gnas	C	A	2: 174,284,971	R100S	probably benign	Het
Gse1	A	G	8: 120,562,677	H90R	possibly damaging	Het
Hoxc10	G	T	15: 102,967,267	C137F	probably benign	Het
Ipp	T	G	4: 116,520,689	L252R	possibly damaging	Het
Jmjd1c	T	A	10: 67,226,078	S1403R	probably benign	Het
Kif19a	A	G	11: 114,779,215	M79V	probably benign	Het
Lipo4	T	C	19: 33,501,586	T285A	possibly damaging	Het
Lrrc66	A	T	5: 73,608,634	D355E	probably benign	Het
Lrsam1	T	A	2: 32,945,852	Q301L	probably benign	Het
Med6	C	T	12: 81,581,854	R138Q	probably damaging	Het
Nlrc5	A	G	8: 94,475,793	T174A	probably benign	Het
Nrbp1	C	T	5: 31,249,585	R322W	possibly damaging	Het
Olfr1256	T	A	2: 89,835,938	E2D	probably benign	Het
Olfr1338	T	A	4: 118,753,789	T250S	probably benign	Het
Olfr739	C	A	14: 50,424,654	A45D	probably benign	Het
Pde3a	A	G	6: 141,483,915	E734G	probably damaging	Het
Pnpla7	C	T	2: 25,003,001	T167I	possibly damaging	Het
Pop7	T	C	5: 137,502,059	N4S	possibly damaging	Het
Ppm1h	C	A	10: 122,782,278	P114Q	probably benign	Het
Prdm16	T	C	4: 154,341,910	T473A	probably benign	Het
Prdm6	T	C	18: 53,536,741		probably null	Het
Prkdc	T	G	16: 15,829,769	W3686G	possibly damaging	Het
Ptchd4	C	A	17: 42,503,135	H642Q	possibly damaging	Het
Rad1	A	G	15: 10,495,923	Y228C	possibly damaging	Het
Rgs22	G	A	15: 36,106,955	T56I	probably benign	Het
Rnf135	C	A	11: 80,193,907	H169N	probably benign	Het
Rnft1	C	T	11: 86,486,493	Q128*	probably null	Het
Sez6	T	C	11: 77,973,759		probably benign	Het
Sh3rf3	A	G	10: 58,813,947	S125G	probably benign	Het
Sik2	T	C	9: 50,915,506	E295G	possibly damaging	Het
Themis	A	G	10: 28,863,376	Q614R	probably damaging	Het
Thsd7b	T	A	1: 130,116,671	C1129*	probably null	Het
Tmem68	A	T	4: 3,569,512	F59L	probably benign	Het
Tmem8	C	T	17: 26,118,872	T410I	possibly damaging	Het
Vmn2r107	A	G	17: 20,375,164	T660A	probably damaging	Het
Vwa5b2	G	T	16: 20,597,542	C484F	probably damaging	Het
Zfp418	T	A	7: 7,181,981	C314*	probably null	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
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
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'- AACTGAATGCCTGTGTGATGTG -3'
(R):5'- ACCTTCTTTGCTGTGAGAGGAG -3'

Sequencing Primer
(F):5'- GGTACATTGTATGAAATTCCCACACC -3'
(R):5'- GAGCAACCGTGAGTGCG -3'

Posted On

2016-11-08