Mutagenetix > Incidental Mutations

Incidental Mutation 'R1226:Brwd1'

152252

Institutional Source

Beutler Lab

Gene Symbol

Brwd1

Ensembl Gene

ENSMUSG00000022914

Gene Name

bromodomain and WD repeat domain containing 1

Synonyms

G1-403-16, repro5, D530019K20Rik, 5330419I02Rik, Wdr9

MMRRC Submission

039295-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95992092-96082428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96031548 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 1036 (T1036M)

Ref Sequence

ENSEMBL: ENSMUSP00000117066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000113829] [ENSMUST00000131322] [ENSMUST00000153398]

Predicted Effect

probably benign
Transcript: ENSMUST00000023631
AA Change: T1036M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: T1036M

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099502
AA Change: T1036M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: T1036M

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113829
AA Change: T1036M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: T1036M

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.13e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.13e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2177	2188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131322
AA Change: T483M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118327
Gene: ENSMUSG00000022914
AA Change: T483M

Domain	Start	End	E-Value	Type
low complexity region	107	123	N/A	INTRINSIC
low complexity region	200	214	N/A	INTRINSIC
low complexity region	299	315	N/A	INTRINSIC
low complexity region	353	374	N/A	INTRINSIC
Blast:BROMO	496	582	4e-37	BLAST
Blast:BROMO	603	627	5e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148432

Predicted Effect

probably benign
Transcript: ENSMUST00000153398
AA Change: T1036M

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: T1036M

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
internal_repeat_1	1491	1957	1.45e-251	PROSPERO
internal_repeat_1	1956	2422	1.45e-251	PROSPERO
low complexity region	2630	2639	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.3%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcd2	G	T	15: 91,191,043	A189E	probably benign	Het
Ahcy	T	C	2: 155,064,897	T159A	probably benign	Het
Arfgef2	T	C	2: 166,827,640	V84A	probably damaging	Het
Ccdc173	A	G	2: 69,787,209	M76T	possibly damaging	Het
Ccdc187	G	T	2: 26,276,121	S765R	probably damaging	Het
Chd1l	G	A	3: 97,562,625	R862*	probably null	Het
Crmp1	A	G	5: 37,273,434	D71G	probably damaging	Het
Ctif	CTGTGTCCGGTGT	CTGT	18: 75,521,579		probably benign	Het
Ctsb	A	C	14: 63,141,740	Y267S	probably damaging	Het
Cyp4a12b	T	A	4: 115,432,967	I239N	possibly damaging	Het
Dna2	T	C	10: 62,960,424	V544A	possibly damaging	Het
Dnhd1	T	A	7: 105,696,899	F2364Y	probably damaging	Het
Fsip2	A	T	2: 82,981,011	E2558V	probably damaging	Het
Gm10061	A	C	16: 89,151,281	Y48S	unknown	Het
Herc1	T	A	9: 66,416,263	M1353K	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lin7a	T	C	10: 107,271,919	V20A	probably benign	Het
Lsr	T	A	7: 30,971,883	I142F	probably damaging	Het
Mei1	C	T	15: 82,080,084	T275I	possibly damaging	Het
Mon2	A	G	10: 123,002,819	V1593A	probably benign	Het
Mrpl32	A	G	13: 14,611,511	I74T	probably benign	Het
Nek11	C	T	9: 105,392,892	V44I	probably damaging	Het
Noa1	A	G	5: 77,307,555	V438A	possibly damaging	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr262	A	C	19: 12,241,586	I25R	probably benign	Het
Olfr828	C	T	9: 18,815,970	C108Y	probably benign	Het
Pcdhb17	T	C	18: 37,487,260	L701P	probably damaging	Het
Pde11a	G	A	2: 76,158,354	S481L	probably benign	Het
Prkdc	T	C	16: 15,673,997	I602T	possibly damaging	Het
Ptprh	T	A	7: 4,603,092	R3*	probably null	Het
Reln	A	G	5: 21,910,866	L3048P	probably damaging	Het
Slc6a11	T	A	6: 114,194,663	I265N	possibly damaging	Het
Sorbs2	T	C	8: 45,795,619	S636P	probably damaging	Het
Supt5	T	C	7: 28,328,747	I44V	probably benign	Het
Tdrd6	T	A	17: 43,626,632	E1175V	possibly damaging	Het
Tnxb	A	C	17: 34,688,929	T1316P	probably damaging	Het
Ufc1	A	C	1: 171,289,237	D119E	probably benign	Het
Vmn1r220	A	G	13: 23,184,124	F134S	probably damaging	Het
Zfp106	A	G	2: 120,524,079	S1404P	probably damaging	Het
Zfp866	A	G	8: 69,766,290	F227L	probably damaging	Het
Zfyve28	A	T	5: 34,217,064	H535Q	probably benign	Het

Other mutations in Brwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Brwd1	APN	16	96017586	missense	probably damaging	1.00
IGL00974:Brwd1	APN	16	96043026	missense	probably damaging	1.00
IGL01014:Brwd1	APN	16	96016173	missense	probably benign	0.04
IGL01447:Brwd1	APN	16	96047379	nonsense	probably null
IGL01459:Brwd1	APN	16	96047420	missense	probably damaging	1.00
IGL01631:Brwd1	APN	16	96046466	missense	probably damaging	1.00
IGL02184:Brwd1	APN	16	96013829	missense	probably damaging	1.00
IGL02264:Brwd1	APN	16	96019456	missense	probably damaging	0.98
IGL02679:Brwd1	APN	16	96002823	missense	probably benign
IGL02833:Brwd1	APN	16	96052571	missense	probably damaging	1.00
IGL02960:Brwd1	APN	16	96057466	missense	probably damaging	1.00
IGL03053:Brwd1	APN	16	96017677	missense	possibly damaging	0.75
IGL03074:Brwd1	APN	16	96011850	missense	probably benign	0.00
IGL03135:Brwd1	APN	16	96021258	missense	probably damaging	0.99
IGL03168:Brwd1	APN	16	96017677	missense	possibly damaging	0.75
IGL03214:Brwd1	APN	16	96037900	missense	probably benign	0.26
IGL03328:Brwd1	APN	16	96002725	missense	probably damaging	0.99
Embers	UTSW	16	96017604	missense	probably damaging	1.00
Glowing	UTSW	16	96035959	missense	probably damaging	1.00
PIT4243001:Brwd1	UTSW	16	96002671	nonsense	probably null
R0012:Brwd1	UTSW	16	96059652	missense	probably damaging	0.98
R0012:Brwd1	UTSW	16	96059652	missense	probably damaging	0.98
R0030:Brwd1	UTSW	16	96021256	missense	probably damaging	1.00
R0135:Brwd1	UTSW	16	96047104	missense	probably damaging	1.00
R0366:Brwd1	UTSW	16	96037964	nonsense	probably null
R0551:Brwd1	UTSW	16	96035974	missense	probably damaging	1.00
R0586:Brwd1	UTSW	16	96043086	missense	probably damaging	1.00
R0865:Brwd1	UTSW	16	96068584	missense	probably damaging	1.00
R1329:Brwd1	UTSW	16	96003234	missense	probably benign	0.07
R1378:Brwd1	UTSW	16	96041370	missense	probably benign	0.06
R1420:Brwd1	UTSW	16	96036034	missense	probably damaging	1.00
R1441:Brwd1	UTSW	16	96066151	missense	probably damaging	0.99
R1484:Brwd1	UTSW	16	96028291	unclassified	probably null
R1624:Brwd1	UTSW	16	96008144	missense	possibly damaging	0.67
R1636:Brwd1	UTSW	16	96059641	missense	probably damaging	1.00
R1988:Brwd1	UTSW	16	96021237	missense	probably damaging	0.96
R1998:Brwd1	UTSW	16	96021288	missense	probably damaging	1.00
R2066:Brwd1	UTSW	16	96046465	missense	probably benign	0.01
R2898:Brwd1	UTSW	16	96066100	missense	probably damaging	0.99
R2983:Brwd1	UTSW	16	96066574	missense	probably damaging	0.98
R3966:Brwd1	UTSW	16	96044530	missense	probably damaging	1.00
R4086:Brwd1	UTSW	16	96046372	missense	probably benign	0.03
R4257:Brwd1	UTSW	16	96023496	missense	probably damaging	1.00
R4290:Brwd1	UTSW	16	96017604	missense	probably damaging	1.00
R4292:Brwd1	UTSW	16	96017604	missense	probably damaging	1.00
R4293:Brwd1	UTSW	16	96017604	missense	probably damaging	1.00
R4614:Brwd1	UTSW	16	96047359	missense	probably damaging	1.00
R4771:Brwd1	UTSW	16	96003318	missense	probably benign	0.00
R5025:Brwd1	UTSW	16	96053972	missense	probably damaging	0.97
R5155:Brwd1	UTSW	16	96002793	nonsense	probably null
R5229:Brwd1	UTSW	16	96002209	missense	possibly damaging	0.87
R5246:Brwd1	UTSW	16	96002557	missense	probably damaging	1.00
R5668:Brwd1	UTSW	16	96016150	missense	probably damaging	1.00
R5763:Brwd1	UTSW	16	96033843	nonsense	probably null
R5782:Brwd1	UTSW	16	96043043	nonsense	probably null
R5831:Brwd1	UTSW	16	96019436	missense	probably damaging	1.00
R5836:Brwd1	UTSW	16	96064758	missense	probably damaging	1.00
R5906:Brwd1	UTSW	16	96058738	missense	probably damaging	1.00
R5995:Brwd1	UTSW	16	96064787	missense	probably damaging	1.00
R6143:Brwd1	UTSW	16	96002956	missense	probably benign	0.00
R6241:Brwd1	UTSW	16	96013874	missense	probably damaging	1.00
R6313:Brwd1	UTSW	16	96007941	missense	probably benign	0.01
R6362:Brwd1	UTSW	16	96002307	missense	probably damaging	1.00
R6551:Brwd1	UTSW	16	95993962	missense	possibly damaging	0.55
R6736:Brwd1	UTSW	16	96068572	missense	probably damaging	1.00
R6822:Brwd1	UTSW	16	96041274	missense	probably benign	0.42
R7080:Brwd1	UTSW	16	96009530	missense	probably benign	0.01
R7131:Brwd1	UTSW	16	96066498	missense	probably damaging	1.00
R7208:Brwd1	UTSW	16	96035959	missense	probably damaging	1.00
R7322:Brwd1	UTSW	16	96066119	missense	probably damaging	1.00
R7483:Brwd1	UTSW	16	96056173	missense	probably damaging	0.99
R7615:Brwd1	UTSW	16	96033839	missense	probably damaging	0.96
R7621:Brwd1	UTSW	16	96064887	missense	probably damaging	1.00
R7665:Brwd1	UTSW	16	96041343	missense	probably benign	0.09
R7697:Brwd1	UTSW	16	96046401	missense	probably benign	0.10
R7740:Brwd1	UTSW	16	96027368	missense	probably damaging	1.00
X0017:Brwd1	UTSW	16	96044491	missense	probably damaging	1.00
X0028:Brwd1	UTSW	16	96011923	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGTGAACACTGTGAAGAACCACCC -3'
(R):5'- ACCACCCTGGAGATTAGGAGGAATG -3'

Sequencing Primer
(F):5'- TGTGAAGAACCACCCAAGCAG -3'
(R):5'- TGGCAGCCAATGGCTAATTAC -3'

Posted On

2014-01-29