Mutagenetix > Incidental Mutations

Incidental Mutation 'R5668:Brwd1'

442479

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

043311-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95992092-96082428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96016150 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1387 (I1387M)

Ref Sequence

ENSEMBL: ENSMUSP00000097101 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023631
AA Change: I1387M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: I1387M

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 damaging
Transcript: ENSMUST00000099502
AA Change: I1387M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: I1387M

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 damaging
Transcript: ENSMUST00000113829
AA Change: I1387M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: I1387M

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

noncoding transcript
Transcript: ENSMUST00000127777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130823

Predicted Effect

probably benign
Transcript: ENSMUST00000131322

SMART Domains

Protein: ENSMUSP00000118327
Gene: ENSMUSG00000022914

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: ENSMUST00000147655

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122457
Gene: ENSMUSG00000022914
AA Change: I231M

Domain	Start	End	E-Value	Type
BROMO	49	160	1.72e-6	SMART
BROMO	164	267	8.06e-12	SMART
low complexity region	342	358	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153398
AA Change: I1387M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: I1387M

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

Meta Mutation Damage Score

0.284

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,904,550	W429R	probably damaging	Het
Afg1l	C	T	10: 42,360,240	C272Y	probably damaging	Het
Agrn	T	C	4: 156,167,313	T1831A	probably damaging	Het
AI481877	A	G	4: 59,047,399	S1407P	probably benign	Het
Aifm2	T	C	10: 61,725,917	V14A	probably damaging	Het
Angptl3	A	T	4: 99,032,084		probably null	Het
Arfgap1	A	T	2: 180,974,119	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,869		probably benign	Het
BC003965	G	A	17: 25,184,989	S101N	probably damaging	Het
BC067074	A	G	13: 113,317,167	S55G	possibly damaging	Het
Cavin4	A	G	4: 48,672,499	T315A	probably benign	Het
Cep128	T	C	12: 90,999,636	T1066A	probably benign	Het
Cln3	T	C	7: 126,572,386	T376A	probably benign	Het
Cntn4	A	T	6: 106,679,436		silent	Het
Colec12	T	A	18: 9,848,963	D380E	probably damaging	Het
Csmd3	T	C	15: 47,695,755	I2371V	possibly damaging	Het
Cxcl3	T	C	5: 90,787,440	S99P	unknown	Het
Ddx60	A	G	8: 62,000,578	R1244G	probably benign	Het
Dhx38	T	C	8: 109,553,416	D914G	probably damaging	Het
Dlc1	T	G	8: 36,937,501		probably benign	Het
Fam161b	A	G	12: 84,356,350	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,707,381	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,582,037	E612V	unknown	Het
Foxb1	T	A	9: 69,760,246	M1L	probably damaging	Het
Gm14412	A	T	2: 177,315,609	C164*	probably null	Het
Gm43302	T	A	5: 105,275,812	M432L	probably benign	Het
Gm4353	C	A	7: 116,083,678	A223S	probably damaging	Het
Gm884	T	A	11: 103,617,054		probably benign	Het
Gm8994	A	T	6: 136,329,395	I264F	probably benign	Het
Gpatch8	T	C	11: 102,500,867	K143R	unknown	Het
Gpr15	A	G	16: 58,717,650	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,228,381	L649P	probably damaging	Het
H2-M10.5	C	A	17: 36,774,581	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,103,889	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,467,770	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,304,283		noncoding transcript	Het
Lrrc37a	T	A	11: 103,500,175	T1475S	probably benign	Het
Ly75	A	G	2: 60,354,500	S437P	probably damaging	Het
Maz	C	T	7: 127,025,322	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,013,812	S1008*	probably null	Het
Mcmbp	T	C	7: 128,712,754	D246G	probably benign	Het
Mipol1	G	A	12: 57,325,560	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,120,519	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,336,324	A1118T	probably damaging	Het
Olfr1226	A	T	2: 89,193,826	D69E	possibly damaging	Het
Olfr1249	G	A	2: 89,630,344	L185F	probably damaging	Het
Olfr1427	A	G	19: 12,098,926	S238P	probably damaging	Het
Olfr267	T	A	4: 58,785,489	I78F	probably benign	Het
Olfr573-ps1	T	C	7: 102,941,921	K219E	probably benign	Het
Olfr585	A	T	7: 103,097,896	S52C	probably benign	Het
Olfr981	A	T	9: 40,022,668	I92F	probably damaging	Het
P3h1	T	A	4: 119,244,046	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,409,500	D1101G	probably benign	Het
Phlpp2	C	A	8: 109,928,573	Q667K	possibly damaging	Het
Plec	A	G	15: 76,190,466	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,280,399	I602N	probably damaging	Het
Rdh8	A	C	9: 20,825,179	I181L	probably benign	Het
Rnf181	A	G	6: 72,361,522	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,614,222		noncoding transcript	Het
Sart3	A	G	5: 113,745,156		probably null	Het
Sec14l2	A	C	11: 4,109,189	L160R	probably damaging	Het
Senp1	C	T	15: 98,048,355	R503H	probably damaging	Het
Slc22a2	T	C	17: 12,608,409	V316A	probably benign	Het
Slc34a1	A	T	13: 55,409,085	I365F	possibly damaging	Het
Spag5	T	C	11: 78,304,716	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,192,255	T702I	probably benign	Het
Sun3	A	G	11: 9,031,433		probably null	Het
Syt6	A	G	3: 103,620,901	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,700,793	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,623,376	Y473C	probably damaging	Het
Trp63	C	T	16: 25,866,185	A274V	possibly damaging	Het
Trpm5	T	C	7: 143,073,229	D1085G	probably benign	Het
Ttn	A	G	2: 76,914,664	V5347A	probably benign	Het
Vma21-ps	T	A	4: 52,496,946	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,637,914	N239S	probably benign	Het
Wfdc8	T	C	2: 164,597,419		probably benign	Het
Xkr4	T	A	1: 3,671,035	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,682,846	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,492,552	V200A	probably benign	Het
Zfp936	A	T	7: 43,190,434	S441C	possibly damaging	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
R1226:Brwd1	UTSW	16	96031548	missense	probably benign	0.35
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
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
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'- CAGCTTTGCTCATCCCAGAC -3'
(R):5'- GGCATTGTACGCATATCCTAAC -3'

Sequencing Primer
(F):5'- CCAGACATCTTGTGTTTATCCAG -3'
(R):5'- AGAAGAGTTGCTGAGTTCCCC -3'

Posted On

2016-11-09