Mutagenetix > Incidental Mutation

Incidental Mutation 'R9753:Brwd1'

732653

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95793292-95883726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95825028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1145 (E1145G)

Ref Sequence

ENSEMBL: ENSMUSP00000023631 (fasta)

Gene Model

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

AlphaFold

Q921C3

Predicted Effect

probably damaging
Transcript: ENSMUST00000023631
AA Change: E1145G

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

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: E1145G

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: E1145G

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

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: E1145G

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	G	A	10: 41,259,496 (GRCm39)	V843I		Het
Bbs12	T	C	3: 37,373,680 (GRCm39)	C43R	possibly damaging	Het
C2cd4c	A	C	10: 79,448,067 (GRCm39)	I360S	probably damaging	Het
Carmil2	A	G	8: 106,417,539 (GRCm39)	N599S	probably damaging	Het
Cd79b	A	G	11: 106,203,457 (GRCm39)		probably null	Het
Ces2c	A	G	8: 105,580,249 (GRCm39)	M489V	probably benign	Het
Clip4	A	G	17: 72,106,068 (GRCm39)	N84D	probably benign	Het
Cramp1	T	C	17: 25,191,320 (GRCm39)	D1047G	possibly damaging	Het
Cyp2c69	C	T	19: 39,865,991 (GRCm39)	V201M	probably benign	Het
Dock2	A	G	11: 34,223,673 (GRCm39)	S1154P	possibly damaging	Het
Elk4	T	G	1: 131,945,881 (GRCm39)	V253G	probably benign	Het
Erbb4	T	A	1: 68,238,062 (GRCm39)	H809L	probably benign	Het
Ext1	A	T	15: 53,208,067 (GRCm39)	D231E	probably damaging	Het
Fam221b	T	C	4: 43,665,574 (GRCm39)	K295E	probably benign	Het
Fbrsl1	A	G	5: 110,526,835 (GRCm39)	F2L	unknown	Het
Fnip2	C	T	3: 79,415,411 (GRCm39)	R209H	probably benign	Het
Gart	C	T	16: 91,430,949 (GRCm39)	G371D	probably damaging	Het
Gata6	T	A	18: 11,064,706 (GRCm39)	V506D	possibly damaging	Het
Gba2	T	C	4: 43,568,716 (GRCm39)	Y620C	probably damaging	Het
Gprc6a	T	C	10: 51,504,364 (GRCm39)	N160S	probably benign	Het
Gstm3	A	G	3: 107,875,493 (GRCm39)	W46R	probably damaging	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Hydin	T	C	8: 111,217,398 (GRCm39)	F1429L	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgb1bp1	A	G	12: 21,326,890 (GRCm39)	S28P	unknown	Het
Krt10	A	G	11: 99,279,792 (GRCm39)	F123L	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lingo4	C	T	3: 94,309,493 (GRCm39)	R144*	probably null	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Nrsn1	C	A	13: 25,437,563 (GRCm39)	V122L	probably benign	Het
Or10h5	C	A	17: 33,434,688 (GRCm39)	G210V	possibly damaging	Het
Or2r2	T	C	6: 42,463,507 (GRCm39)	M207V	probably benign	Het
Or4d6	T	A	19: 12,086,056 (GRCm39)	M59L	probably benign	Het
Pcgf6	T	C	19: 47,023,073 (GRCm39)	T353A	probably damaging	Het
Pcsk2	T	C	2: 143,635,150 (GRCm39)	Y342H	probably damaging	Het
Pou2af1	A	T	9: 51,149,636 (GRCm39)	N243Y	possibly damaging	Het
Prkcz	T	C	4: 155,377,659 (GRCm39)	D197G	probably benign	Het
Sec14l4	G	A	11: 3,989,982 (GRCm39)	E94K	probably benign	Het
Sik2	T	C	9: 50,807,139 (GRCm39)	E757G	probably damaging	Het
Sipa1l1	T	A	12: 82,463,763 (GRCm39)	S1154T	possibly damaging	Het
Speer1k	A	T	5: 10,999,020 (GRCm39)	T53S		Het
Ssb	T	C	2: 69,697,865 (GRCm39)	Y175H	probably damaging	Het
St6galnac6	T	C	2: 32,502,261 (GRCm39)	I50T	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Unc13b	C	T	4: 43,182,842 (GRCm39)	R396*	probably null	Het
Vezt	A	G	10: 93,806,183 (GRCm39)	S743P	probably benign	Het
Vmn1r77	A	C	7: 11,775,659 (GRCm39)	N145T	probably damaging	Het
Vmn2r98	A	C	17: 19,285,665 (GRCm39)	T162P	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
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
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'- AACTATTCCAAAGAGAGGGCTCC -3'
(R):5'- AGTCTGCTTTTGACAGTAGAGC -3'

Sequencing Primer
(F):5'- GAGAGGGCTCCACTTACTATAAC -3'
(R):5'- CTTTTGACAGTAGAGCAGCCAG -3'

Posted On

2022-11-14