Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03135:Brwd1'

410471

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brwd1

Ensembl Gene

ENSMUSG00000022914

Gene Name

bromodomain and WD repeat domain containing 1

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03135

Quality Score

Status

Chromosome

Chromosomal Location

95793292-95883726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95822458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 1249 (R1249I)

Ref Sequence

ENSEMBL: ENSMUSP00000117066 (fasta)

Gene Model

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

AlphaFold

Q921C3

Predicted Effect

probably damaging
Transcript: ENSMUST00000023631
AA Change: R1249I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: R1249I

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: R1249I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: R1249I

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: R1249I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: R1249I

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

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: R141I

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: R1249I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: R1249I

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apmap	A	C	2: 150,429,035 (GRCm39)	M196R	possibly damaging	Het
Arhgap27	T	A	11: 103,229,891 (GRCm39)		probably null	Het
Arl8b	A	C	6: 108,795,506 (GRCm39)	N148T	probably benign	Het
Baz1a	A	G	12: 54,976,375 (GRCm39)	F434L	probably damaging	Het
Birc2	A	G	9: 7,849,722 (GRCm39)		probably benign	Het
Cab39l	T	C	14: 59,757,100 (GRCm39)	F161L	probably benign	Het
Ccr8	A	T	9: 119,923,689 (GRCm39)	D268V	possibly damaging	Het
Col25a1	A	T	3: 130,323,332 (GRCm39)		probably benign	Het
Cpn1	A	G	19: 43,974,693 (GRCm39)	L12P	possibly damaging	Het
Dnah6	A	G	6: 73,121,987 (GRCm39)	I1360T	probably benign	Het
Dnajb8	A	G	6: 88,200,013 (GRCm39)	E183G	probably damaging	Het
Dpp8	T	A	9: 64,960,322 (GRCm39)		probably null	Het
Fsd1	C	A	17: 56,297,416 (GRCm39)		probably null	Het
Grina	T	A	15: 76,132,162 (GRCm39)	F28I	possibly damaging	Het
H2-M3	G	A	17: 37,583,324 (GRCm39)	D262N	possibly damaging	Het
Hdgfl3	G	A	7: 81,543,587 (GRCm39)	T188M	probably damaging	Het
Kif18b	A	G	11: 102,805,086 (GRCm39)	I353T	probably damaging	Het
Lrrc41	C	A	4: 115,945,728 (GRCm39)	R148S	probably benign	Het
Lrrc8e	T	A	8: 4,285,776 (GRCm39)	L667Q	probably damaging	Het
Lrrk1	A	G	7: 65,912,638 (GRCm39)	F1641L	probably benign	Het
Naaladl1	A	T	19: 6,162,386 (GRCm39)	T443S	probably benign	Het
Naga	C	A	15: 82,214,942 (GRCm39)	V339F	probably damaging	Het
Nedd4l	A	G	18: 65,338,741 (GRCm39)	K702E	probably damaging	Het
Nwd2	T	A	5: 63,963,338 (GRCm39)	L974H	probably damaging	Het
Parp14	A	G	16: 35,678,381 (GRCm39)	M529T	probably damaging	Het
Parp8	A	G	13: 117,047,478 (GRCm39)	V198A	probably benign	Het
Pcdhb19	A	T	18: 37,631,588 (GRCm39)	H461L	probably benign	Het
Ppp6r1	T	C	7: 4,645,159 (GRCm39)	D236G	possibly damaging	Het
Psg21	T	C	7: 18,388,843 (GRCm39)	D83G	probably benign	Het
Ptpru	A	G	4: 131,546,111 (GRCm39)	C308R	probably damaging	Het
Ralgds	T	A	2: 28,439,100 (GRCm39)	S696T	probably damaging	Het
Rttn	T	A	18: 89,033,274 (GRCm39)	L695Q	probably damaging	Het
Scel	A	T	14: 103,823,950 (GRCm39)	I393F	probably benign	Het
Serpina3j	T	A	12: 104,281,166 (GRCm39)	I113N	probably damaging	Het
Slc4a3	C	A	1: 75,524,579 (GRCm39)		probably benign	Het
Slc6a11	A	T	6: 114,171,570 (GRCm39)		probably null	Het
Slc8a3	C	T	12: 81,249,023 (GRCm39)	V802M	probably damaging	Het
Smarcal1	T	A	1: 72,655,660 (GRCm39)		probably null	Het
Tmprss11c	A	G	5: 86,385,509 (GRCm39)	V308A	probably damaging	Het
Trim10	A	G	17: 37,185,113 (GRCm39)	R279G	possibly damaging	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Trio	T	C	15: 27,832,097 (GRCm39)		probably benign	Het
Urgcp	G	A	11: 5,666,091 (GRCm39)	T749I	possibly damaging	Het
Vmn2r60	A	G	7: 41,786,018 (GRCm39)	I274V	probably benign	Het
Vps11	A	G	9: 44,267,653 (GRCm39)	F40L	probably benign	Het
Ywhab	A	G	2: 163,857,195 (GRCm39)	I157V	probably benign	Het
Zfp638	G	A	6: 83,919,857 (GRCm39)	R485H	probably damaging	Het
Zfp944	A	G	17: 22,558,737 (GRCm39)	I170T	probably benign	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
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
R4293: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

Posted On

2016-08-02