Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Brwd1'

657502

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95992092-96082428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96047430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 516 (H516Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097101 (fasta)

Gene Model

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

AlphaFold

Q921C3

Predicted Effect

probably damaging
Transcript: ENSMUST00000023631
AA Change: H516Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: H516Q

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: H516Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: H516Q

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

Meta Mutation Damage Score

0.2493

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	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
bromide	UTSW	16	96064887	missense	probably damaging	1.00
Embers	UTSW	16	96017604	missense	probably damaging	1.00
Glowing	UTSW	16	96035959	missense	probably damaging	1.00
Soporific	UTSW	16	96033843	nonsense	probably null
G1citation:Brwd1	UTSW	16	96041274	missense	probably benign	0.42
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	splice site	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
R8120:Brwd1	UTSW	16	96019449	missense	probably benign	0.23
R8187:Brwd1	UTSW	16	96002734	missense	probably damaging	0.98
R8359:Brwd1	UTSW	16	96016209	missense	probably damaging	1.00
R8511:Brwd1	UTSW	16	96058738	missense	probably damaging	1.00
R9046:Brwd1	UTSW	16	96028202	missense	probably damaging	1.00
R9074:Brwd1	UTSW	16	96023410	missense
R9102:Brwd1	UTSW	16	96068525	missense	probably benign	0.43
R9115:Brwd1	UTSW	16	96047114	missense	probably damaging	1.00
R9130:Brwd1	UTSW	16	96064930	missense	probably damaging	1.00
R9200:Brwd1	UTSW	16	96037954	missense	probably benign	0.00
R9246:Brwd1	UTSW	16	96002816	missense	probably benign	0.00
R9407:Brwd1	UTSW	16	96002493	missense	possibly damaging	0.74
R9444:Brwd1	UTSW	16	96053980	missense	possibly damaging	0.89
R9451:Brwd1	UTSW	16	96044503	missense	probably damaging	1.00
R9673:Brwd1	UTSW	16	96011896	missense	probably benign	0.00
R9751:Brwd1	UTSW	16	95993815	missense	possibly damaging	0.83
R9753:Brwd1	UTSW	16	96023828	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'- GGTACTTAGAATTAGAAACGCCAG -3'
(R):5'- AGTATTGAGCTGCTCTGGC -3'

Sequencing Primer
(F):5'- ACGCCAGGAAATTAAATAACTATGTC -3'
(R):5'- AGCTGCCTTGCACCTCTAG -3'

Posted On

2021-01-18