Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Brwd1'

323187

Institutional Source

Beutler Lab

Gene Symbol

Brwd1

Ensembl Gene

ENSMUSG00000022914

Gene Name

bromodomain and WD repeat domain containing 1

Synonyms

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

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4293 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95793292-95883726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95818804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1343 (P1343S)

Ref Sequence

ENSEMBL: ENSMUSP00000097101 (fasta)

Gene Model

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

AlphaFold

Q921C3

Predicted Effect

probably damaging
Transcript: ENSMUST00000023631
AA Change: P1343S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: P1343S

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: P1343S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: P1343S

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: P1343S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: P1343S

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: ENSMUST00000130823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147655

Predicted Effect

probably damaging
Transcript: ENSMUST00000153398
AA Change: P1343S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: P1343S

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

0.6191

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,824,171 (GRCm39)	D164G	probably damaging	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Xpr1	A	G	1: 155,188,542 (GRCm39)	F366S	possibly damaging	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Brwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Brwd1	APN	16	95,818,786 (GRCm39)	missense	probably damaging	1.00
IGL00974:Brwd1	APN	16	95,844,226 (GRCm39)	missense	probably damaging	1.00
IGL01014:Brwd1	APN	16	95,817,373 (GRCm39)	missense	probably benign	0.04
IGL01447:Brwd1	APN	16	95,848,579 (GRCm39)	nonsense	probably null
IGL01459:Brwd1	APN	16	95,848,620 (GRCm39)	missense	probably damaging	1.00
IGL01631:Brwd1	APN	16	95,847,666 (GRCm39)	missense	probably damaging	1.00
IGL02184:Brwd1	APN	16	95,815,029 (GRCm39)	missense	probably damaging	1.00
IGL02264:Brwd1	APN	16	95,820,656 (GRCm39)	missense	probably damaging	0.98
IGL02679:Brwd1	APN	16	95,804,023 (GRCm39)	missense	probably benign
IGL02833:Brwd1	APN	16	95,853,771 (GRCm39)	missense	probably damaging	1.00
IGL02960:Brwd1	APN	16	95,858,666 (GRCm39)	missense	probably damaging	1.00
IGL03053:Brwd1	APN	16	95,818,877 (GRCm39)	missense	possibly damaging	0.75
IGL03074:Brwd1	APN	16	95,813,050 (GRCm39)	missense	probably benign	0.00
IGL03135:Brwd1	APN	16	95,822,458 (GRCm39)	missense	probably damaging	0.99
IGL03168:Brwd1	APN	16	95,818,877 (GRCm39)	missense	possibly damaging	0.75
IGL03214:Brwd1	APN	16	95,839,100 (GRCm39)	missense	probably benign	0.26
IGL03328:Brwd1	APN	16	95,803,925 (GRCm39)	missense	probably damaging	0.99
bromide	UTSW	16	95,866,087 (GRCm39)	missense	probably damaging	1.00
Embers	UTSW	16	95,818,804 (GRCm39)	missense	probably damaging	1.00
Glowing	UTSW	16	95,837,159 (GRCm39)	missense	probably damaging	1.00
Soporific	UTSW	16	95,835,043 (GRCm39)	nonsense	probably null
G1citation:Brwd1	UTSW	16	95,842,474 (GRCm39)	missense	probably benign	0.42
PIT4243001:Brwd1	UTSW	16	95,803,871 (GRCm39)	nonsense	probably null
R0012:Brwd1	UTSW	16	95,860,852 (GRCm39)	missense	probably damaging	0.98
R0012:Brwd1	UTSW	16	95,860,852 (GRCm39)	missense	probably damaging	0.98
R0030:Brwd1	UTSW	16	95,822,456 (GRCm39)	missense	probably damaging	1.00
R0135:Brwd1	UTSW	16	95,848,304 (GRCm39)	missense	probably damaging	1.00
R0366:Brwd1	UTSW	16	95,839,164 (GRCm39)	nonsense	probably null
R0551:Brwd1	UTSW	16	95,837,174 (GRCm39)	missense	probably damaging	1.00
R0586:Brwd1	UTSW	16	95,844,286 (GRCm39)	missense	probably damaging	1.00
R0865:Brwd1	UTSW	16	95,869,784 (GRCm39)	missense	probably damaging	1.00
R1226:Brwd1	UTSW	16	95,832,748 (GRCm39)	missense	probably benign	0.35
R1329:Brwd1	UTSW	16	95,804,434 (GRCm39)	missense	probably benign	0.07
R1378:Brwd1	UTSW	16	95,842,570 (GRCm39)	missense	probably benign	0.06
R1420:Brwd1	UTSW	16	95,837,234 (GRCm39)	missense	probably damaging	1.00
R1441:Brwd1	UTSW	16	95,867,351 (GRCm39)	missense	probably damaging	0.99
R1484:Brwd1	UTSW	16	95,829,491 (GRCm39)	splice site	probably null
R1624:Brwd1	UTSW	16	95,809,344 (GRCm39)	missense	possibly damaging	0.67
R1636:Brwd1	UTSW	16	95,860,841 (GRCm39)	missense	probably damaging	1.00
R1988:Brwd1	UTSW	16	95,822,437 (GRCm39)	missense	probably damaging	0.96
R1998:Brwd1	UTSW	16	95,822,488 (GRCm39)	missense	probably damaging	1.00
R2066:Brwd1	UTSW	16	95,847,665 (GRCm39)	missense	probably benign	0.01
R2898:Brwd1	UTSW	16	95,867,300 (GRCm39)	missense	probably damaging	0.99
R2983:Brwd1	UTSW	16	95,867,774 (GRCm39)	missense	probably damaging	0.98
R3966:Brwd1	UTSW	16	95,845,730 (GRCm39)	missense	probably damaging	1.00
R4086:Brwd1	UTSW	16	95,847,572 (GRCm39)	missense	probably benign	0.03
R4257:Brwd1	UTSW	16	95,824,696 (GRCm39)	missense	probably damaging	1.00
R4290:Brwd1	UTSW	16	95,818,804 (GRCm39)	missense	probably damaging	1.00
R4292:Brwd1	UTSW	16	95,818,804 (GRCm39)	missense	probably damaging	1.00
R4614:Brwd1	UTSW	16	95,848,559 (GRCm39)	missense	probably damaging	1.00
R4771:Brwd1	UTSW	16	95,804,518 (GRCm39)	missense	probably benign	0.00
R5025:Brwd1	UTSW	16	95,855,172 (GRCm39)	missense	probably damaging	0.97
R5155:Brwd1	UTSW	16	95,803,993 (GRCm39)	nonsense	probably null
R5229:Brwd1	UTSW	16	95,803,409 (GRCm39)	missense	possibly damaging	0.87
R5246:Brwd1	UTSW	16	95,803,757 (GRCm39)	missense	probably damaging	1.00
R5668:Brwd1	UTSW	16	95,817,350 (GRCm39)	missense	probably damaging	1.00
R5763:Brwd1	UTSW	16	95,835,043 (GRCm39)	nonsense	probably null
R5782:Brwd1	UTSW	16	95,844,243 (GRCm39)	nonsense	probably null
R5831:Brwd1	UTSW	16	95,820,636 (GRCm39)	missense	probably damaging	1.00
R5836:Brwd1	UTSW	16	95,865,958 (GRCm39)	missense	probably damaging	1.00
R5906:Brwd1	UTSW	16	95,859,938 (GRCm39)	missense	probably damaging	1.00
R5995:Brwd1	UTSW	16	95,865,987 (GRCm39)	missense	probably damaging	1.00
R6143:Brwd1	UTSW	16	95,804,156 (GRCm39)	missense	probably benign	0.00
R6241:Brwd1	UTSW	16	95,815,074 (GRCm39)	missense	probably damaging	1.00
R6313:Brwd1	UTSW	16	95,809,141 (GRCm39)	missense	probably benign	0.01
R6362:Brwd1	UTSW	16	95,803,507 (GRCm39)	missense	probably damaging	1.00
R6551:Brwd1	UTSW	16	95,795,162 (GRCm39)	missense	possibly damaging	0.55
R6736:Brwd1	UTSW	16	95,869,772 (GRCm39)	missense	probably damaging	1.00
R6822:Brwd1	UTSW	16	95,842,474 (GRCm39)	missense	probably benign	0.42
R7080:Brwd1	UTSW	16	95,810,730 (GRCm39)	missense	probably benign	0.01
R7131:Brwd1	UTSW	16	95,867,698 (GRCm39)	missense	probably damaging	1.00
R7208:Brwd1	UTSW	16	95,837,159 (GRCm39)	missense	probably damaging	1.00
R7322:Brwd1	UTSW	16	95,867,319 (GRCm39)	missense	probably damaging	1.00
R7483:Brwd1	UTSW	16	95,857,373 (GRCm39)	missense	probably damaging	0.99
R7615:Brwd1	UTSW	16	95,835,039 (GRCm39)	missense	probably damaging	0.96
R7621:Brwd1	UTSW	16	95,866,087 (GRCm39)	missense	probably damaging	1.00
R7665:Brwd1	UTSW	16	95,842,543 (GRCm39)	missense	probably benign	0.09
R7697:Brwd1	UTSW	16	95,847,601 (GRCm39)	missense	probably benign	0.10
R7740:Brwd1	UTSW	16	95,828,568 (GRCm39)	missense	probably damaging	1.00
R8120:Brwd1	UTSW	16	95,820,649 (GRCm39)	missense	probably benign	0.23
R8187:Brwd1	UTSW	16	95,803,934 (GRCm39)	missense	probably damaging	0.98
R8359:Brwd1	UTSW	16	95,817,409 (GRCm39)	missense	probably damaging	1.00
R8480:Brwd1	UTSW	16	95,848,630 (GRCm39)	missense	probably damaging	0.98
R8511:Brwd1	UTSW	16	95,859,938 (GRCm39)	missense	probably damaging	1.00
R9046:Brwd1	UTSW	16	95,829,402 (GRCm39)	missense	probably damaging	1.00
R9074:Brwd1	UTSW	16	95,824,610 (GRCm39)	missense
R9102:Brwd1	UTSW	16	95,869,725 (GRCm39)	missense	probably benign	0.43
R9115:Brwd1	UTSW	16	95,848,314 (GRCm39)	missense	probably damaging	1.00
R9130:Brwd1	UTSW	16	95,866,130 (GRCm39)	missense	probably damaging	1.00
R9200:Brwd1	UTSW	16	95,839,154 (GRCm39)	missense	probably benign	0.00
R9246:Brwd1	UTSW	16	95,804,016 (GRCm39)	missense	probably benign	0.00
R9407:Brwd1	UTSW	16	95,803,693 (GRCm39)	missense	possibly damaging	0.74
R9444:Brwd1	UTSW	16	95,855,180 (GRCm39)	missense	possibly damaging	0.89
R9451:Brwd1	UTSW	16	95,845,703 (GRCm39)	missense	probably damaging	1.00
R9673:Brwd1	UTSW	16	95,813,096 (GRCm39)	missense	probably benign	0.00
R9751:Brwd1	UTSW	16	95,795,015 (GRCm39)	missense	possibly damaging	0.83
R9753:Brwd1	UTSW	16	95,825,028 (GRCm39)	missense	probably damaging	1.00
X0017:Brwd1	UTSW	16	95,845,691 (GRCm39)	missense	probably damaging	1.00
X0028:Brwd1	UTSW	16	95,813,123 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACACATGGTTCCTGTGCAAC -3'
(R):5'- ACCATAAAGTACATGTCCTCTCTCC -3'

Sequencing Primer
(F):5'- CTGTACTGCAACTAGCCTAGTGG -3'
(R):5'- CATTTCCTACCTAGGCTGAAGTAAC -3'

Posted On

2015-06-20