Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Brdt'

202034

Institutional Source

Beutler Lab

Gene Symbol

Brdt

Ensembl Gene

ENSMUSG00000029279

Gene Name

bromodomain, testis-specific

Synonyms

Fsrg3, 7420412D09Rik, Brd6

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1794 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

107331159-107387058 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

ACAGCAGCAGCAGCAGC to ACAGCAGCAGCAGC at 107359853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000031215
Gene: ENSMUSG00000029279

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: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,620 (GRCm38)	E44G	probably benign	Het
Anxa7	A	G	14: 20,471,467 (GRCm38)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,397,605 (GRCm38)	T331A	probably benign	Het
Arhgef40	G	T	14: 51,989,930 (GRCm38)	C477F	possibly damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,321,709 (GRCm38)	R343L	probably damaging	Het
Btbd2	G	T	10: 80,643,913 (GRCm38)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,725,745 (GRCm38)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,389,122 (GRCm38)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,688,252 (GRCm38)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,117,829 (GRCm38)	I37K	possibly damaging	Het
Cdcp1	T	C	9: 123,215,831 (GRCm38)	T27A	probably benign	Het
Cdcp1	A	G	9: 123,190,094 (GRCm38)	V40A	probably benign	Het
Cdh4	C	T	2: 179,886,842 (GRCm38)	T581I	probably damaging	Het
Cgn	A	G	3: 94,762,557 (GRCm38)		probably null	Het
Col7a1	G	A	9: 108,965,928 (GRCm38)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm38)	E133G	probably benign	Het
Dchs1	T	C	7: 105,771,720 (GRCm38)	T498A	probably benign	Het
Dis3l	A	C	9: 64,317,776 (GRCm38)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,024,958 (GRCm38)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,539,281 (GRCm38)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,997,138 (GRCm38)	Y2523N	probably benign	Het
Fat3	A	T	9: 15,997,136 (GRCm38)	Y2523*	probably null	Het
Fmnl1	T	C	11: 103,197,147 (GRCm38)	S40P	probably benign	Het
Gm17727	T	A	9: 35,777,122 (GRCm38)	I56F	probably benign	Het
Gm4792	T	C	10: 94,298,490 (GRCm38)	D6G	unknown	Het
Hhat	G	T	1: 192,693,906 (GRCm38)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,598,285 (GRCm38)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,627,152 (GRCm38)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,630,773 (GRCm38)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,259,218 (GRCm38)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,299,557 (GRCm38)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,387,020 (GRCm38)	S702P	probably benign	Het
Lingo3	C	A	10: 80,835,598 (GRCm38)	R166L	probably benign	Het
Lins1	T	C	7: 66,711,909 (GRCm38)	F436S	probably damaging	Het
Lman1	T	C	18: 65,991,684 (GRCm38)	D328G	probably benign	Het
Lox	A	G	18: 52,528,307 (GRCm38)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,638,595 (GRCm38)	V165A	probably benign	Het
Map9	A	G	3: 82,380,221 (GRCm38)	D50G	probably damaging	Het
March1	T	A	8: 66,386,942 (GRCm38)	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,915,982 (GRCm38)	F3L	probably benign	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
Nin	G	A	12: 70,043,795 (GRCm38)	Q949*	probably null	Het
Nlgn3	A	G	X: 101,320,033 (GRCm38)	H636R	probably benign	Het
Notch2	A	G	3: 98,099,547 (GRCm38)	D411G	possibly damaging	Het
Olfr1263	A	G	2: 90,015,020 (GRCm38)	Y30C	probably damaging	Het
Olfr1449	G	C	19: 12,934,968 (GRCm38)	A77P	probably damaging	Het
Plekha7	A	G	7: 116,140,681 (GRCm38)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,705,959 (GRCm38)		probably benign	Het
Rab7b	T	C	1: 131,697,068 (GRCm38)		probably null	Het
Reg3b	G	T	6: 78,372,214 (GRCm38)		probably null	Het
Rgs20	A	G	1: 4,910,572 (GRCm38)	Y177H	probably damaging	Het
Ripk3	G	T	14: 55,785,329 (GRCm38)	N379K	probably benign	Het
Rnf220	G	T	4: 117,307,568 (GRCm38)	Q7K	probably benign	Het
Ros1	T	A	10: 52,124,103 (GRCm38)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,433,153 (GRCm38)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,439,328 (GRCm38)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,557,308 (GRCm38)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,274,132 (GRCm38)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,216,736 (GRCm38)	E369G	probably benign	Het
Tcf4	T	A	18: 69,657,853 (GRCm38)	M178K	probably benign	Het
Tex2	T	C	11: 106,567,902 (GRCm38)		probably benign	Het
Tjp1	A	T	7: 65,323,129 (GRCm38)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,255,994 (GRCm38)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,578,029 (GRCm38)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Ush2a	T	C	1: 188,862,809 (GRCm38)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,524,351 (GRCm38)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 87,001,413 (GRCm38)	V136I	probably benign	Het
Wdr38	A	G	2: 39,000,729 (GRCm38)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,429,303 (GRCm38)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,511,599 (GRCm38)	I236T	probably damaging	Het

Other mutations in Brdt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02342:Brdt	APN	5	107,342,203 (GRCm38)	missense	probably damaging	1.00
IGL02718:Brdt	APN	5	107,350,068 (GRCm38)	splice site	probably benign
IGL02746:Brdt	APN	5	107,370,324 (GRCm38)	missense	probably benign
IGL02851:Brdt	APN	5	107,377,995 (GRCm38)	missense	possibly damaging	0.47
R0585:Brdt	UTSW	5	107,356,882 (GRCm38)	critical splice donor site	probably null
R0708:Brdt	UTSW	5	107,358,900 (GRCm38)	nonsense	probably null
R1338:Brdt	UTSW	5	107,350,188 (GRCm38)	missense	probably benign	0.02
R1710:Brdt	UTSW	5	107,343,584 (GRCm38)	missense	probably damaging	1.00
R1861:Brdt	UTSW	5	107,359,458 (GRCm38)	missense	probably benign
R1913:Brdt	UTSW	5	107,348,613 (GRCm38)	missense	probably benign
R2029:Brdt	UTSW	5	107,359,224 (GRCm38)	missense	probably benign	0.35
R2431:Brdt	UTSW	5	107,378,015 (GRCm38)	splice site	probably null
R3121:Brdt	UTSW	5	107,377,145 (GRCm38)	missense	probably damaging	0.99
R3122:Brdt	UTSW	5	107,377,145 (GRCm38)	missense	probably damaging	0.99
R4258:Brdt	UTSW	5	107,359,909 (GRCm38)	missense	probably damaging	0.97
R4609:Brdt	UTSW	5	107,359,936 (GRCm38)	missense	probably benign	0.00
R5306:Brdt	UTSW	5	107,345,144 (GRCm38)	missense	probably damaging	1.00
R5640:Brdt	UTSW	5	107,359,308 (GRCm38)	nonsense	probably null
R5677:Brdt	UTSW	5	107,348,617 (GRCm38)	missense	possibly damaging	0.85
R5936:Brdt	UTSW	5	107,359,395 (GRCm38)	missense	probably damaging	1.00
R6145:Brdt	UTSW	5	107,377,999 (GRCm38)	missense	possibly damaging	0.67
R6261:Brdt	UTSW	5	107,348,503 (GRCm38)	missense	probably benign	0.04
R6408:Brdt	UTSW	5	107,385,492 (GRCm38)	missense	probably damaging	1.00
R6930:Brdt	UTSW	5	107,359,215 (GRCm38)	missense	probably benign	0.35
R7372:Brdt	UTSW	5	107,370,294 (GRCm38)	missense	possibly damaging	0.49
R7741:Brdt	UTSW	5	107,358,886 (GRCm38)	missense	probably benign	0.00
R7842:Brdt	UTSW	5	107,348,588 (GRCm38)	missense	possibly damaging	0.49
R7869:Brdt	UTSW	5	107,370,179 (GRCm38)	missense	probably benign	0.04
R7887:Brdt	UTSW	5	107,359,933 (GRCm38)	missense	possibly damaging	0.66
R7972:Brdt	UTSW	5	107,348,549 (GRCm38)	missense	possibly damaging	0.53
R8064:Brdt	UTSW	5	107,377,996 (GRCm38)	nonsense	probably null
R8958:Brdt	UTSW	5	107,378,011 (GRCm38)	missense	probably benign
R9199:Brdt	UTSW	5	107,350,163 (GRCm38)	nonsense	probably null
R9346:Brdt	UTSW	5	107,377,014 (GRCm38)	missense	probably damaging	0.99
X0011:Brdt	UTSW	5	107,377,092 (GRCm38)	missense	probably damaging	1.00
X0011:Brdt	UTSW	5	107,342,128 (GRCm38)	missense	probably damaging	0.96
Z1176:Brdt	UTSW	5	107,359,898 (GRCm38)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ATCAGCTGAATTGTAGGAAACGGC -3'
(R):5'- ACACATTCTCCGGACGCTAC -3'

Sequencing Primer
(F):5'- GGCAAACGAAACGTCCAG -3'
(R):5'- TTCTCCGGACGCTACAGGAAAG -3'

Posted On

2014-06-23