Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01447:Brwd1'

84465

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 #

IGL01447

Quality Score

Status

Chromosome

Chromosomal Location

95793292-95883726 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 95848579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 533 (C533*)

Ref Sequence

ENSEMBL: ENSMUSP00000117066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000113829] [ENSMUST00000124370] [ENSMUST00000153398]

AlphaFold

Q921C3

Predicted Effect

probably null
Transcript: ENSMUST00000023631
AA Change: C533*

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: C533*

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 null
Transcript: ENSMUST00000099502
AA Change: C533*

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: C533*

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 null
Transcript: ENSMUST00000113829
AA Change: C533*

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: C533*

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 null
Transcript: ENSMUST00000124370
AA Change: C256*

SMART Domains

Protein: ENSMUSP00000118423
Gene: ENSMUSG00000022914
AA Change: C256*

Domain	Start	End	E-Value	Type
WD40	34	75	3.82e1	SMART
WD40	80	119	4.27e-8	SMART
WD40	140	177	8.59e-1	SMART
WD40	180	220	1.47e-6	SMART
WD40	227	267	9.21e0	SMART
low complexity region	383	399	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC
low complexity region	531	547	N/A	INTRINSIC
low complexity region	585	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126629

Predicted Effect

probably null
Transcript: ENSMUST00000139566
AA Change: C244*

SMART Domains

Protein: ENSMUSP00000121141
Gene: ENSMUSG00000022914
AA Change: C244*

Domain	Start	End	E-Value	Type
WD40	23	64	3.82e1	SMART
WD40	69	108	4.27e-8	SMART
WD40	129	166	8.59e-1	SMART
WD40	169	209	1.47e-6	SMART
WD40	216	256	9.21e0	SMART
low complexity region	372	388	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000153398
AA Change: C533*

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: C533*

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	T	G	2: 22,743,194 (GRCm39)	I342S	probably damaging	Het
Armh4	A	T	14: 50,005,923 (GRCm39)	S591T	probably damaging	Het
Atp6v1e1	T	C	6: 120,772,654 (GRCm39)		probably benign	Het
Cacna2d4	A	G	6: 119,219,865 (GRCm39)	S212G	probably damaging	Het
Ccn5	A	G	2: 163,670,942 (GRCm39)	R150G	probably damaging	Het
Cit	T	C	5: 116,011,902 (GRCm39)		probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr1	T	C	5: 113,752,282 (GRCm39)	T240A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,276 (GRCm39)	D208G	probably benign	Het
Egr3	C	A	14: 70,316,732 (GRCm39)	P143Q	probably damaging	Het
Fbxw18	T	A	9: 109,530,675 (GRCm39)	S41C	probably damaging	Het
Focad	T	A	4: 88,244,465 (GRCm39)	I815N	unknown	Het
Heatr5b	T	C	17: 79,137,026 (GRCm39)	T165A	probably benign	Het
Iqub	G	T	6: 24,505,627 (GRCm39)	L94I	probably benign	Het
Lrrc32	T	C	7: 98,147,583 (GRCm39)	L121P	probably damaging	Het
Mansc1	G	A	6: 134,594,289 (GRCm39)	L118F	probably damaging	Het
Mtor	A	G	4: 148,615,214 (GRCm39)	H1693R	possibly damaging	Het
Muc5b	A	G	7: 141,416,831 (GRCm39)	Q3259R	probably benign	Het
Nmnat2	A	G	1: 152,988,189 (GRCm39)	S273G	possibly damaging	Het
Npr2	T	C	4: 43,640,554 (GRCm39)	C336R	possibly damaging	Het
Or10al6	C	T	17: 38,083,122 (GRCm39)	L193F	probably damaging	Het
Or1f19	A	G	16: 3,410,848 (GRCm39)	N196S	possibly damaging	Het
Or1j11	A	T	2: 36,311,466 (GRCm39)	I19F	probably damaging	Het
Or56b1b	A	G	7: 108,164,216 (GRCm39)	V262A	possibly damaging	Het
Or5aq1	A	T	2: 86,966,343 (GRCm39)	Y107*	probably null	Het
Or5d36	T	C	2: 87,901,468 (GRCm39)	N86S	possibly damaging	Het
Rad54l2	C	T	9: 106,579,971 (GRCm39)	A967T	probably damaging	Het
Rspo1	T	C	4: 124,898,829 (GRCm39)	V50A	possibly damaging	Het
Sar1b	C	T	11: 51,682,274 (GRCm39)		probably benign	Het
Scamp1	C	T	13: 94,340,530 (GRCm39)	A280T	probably damaging	Het
Spcs2	A	G	7: 99,488,911 (GRCm39)	I251T	probably benign	Het
Sspo	G	T	6: 48,441,600 (GRCm39)		probably null	Het
Tpm2	T	A	4: 43,518,251 (GRCm39)	K251*	probably null	Het
Ttn	A	G	2: 76,571,250 (GRCm39)	S26548P	probably damaging	Het
Ugcg	T	G	4: 59,213,865 (GRCm39)	V149G	possibly damaging	Het
Unc79	T	A	12: 103,045,177 (GRCm39)	N784K	probably damaging	Het
Vit	A	G	17: 78,932,633 (GRCm39)	D580G	probably damaging	Het
Vmn1r83	T	C	7: 12,055,424 (GRCm39)	K211R	probably benign	Het
Zbtb3	A	G	19: 8,781,680 (GRCm39)	Y431C	probably damaging	Het
Zfp608	T	C	18: 55,032,083 (GRCm39)	D619G	possibly damaging	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
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
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

2013-11-11