Mutagenetix > Incidental Mutation

Incidental Mutation 'R1329:Brwd1'

156127

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95793292-95883726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95804434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1912 (I1912T)

Ref Sequence

ENSEMBL: ENSMUSP00000109460 (fasta)

Gene Model

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

AlphaFold

Q921C3

Predicted Effect

probably benign
Transcript: ENSMUST00000023631
AA Change: I1912T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: I1912T

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 benign
Transcript: ENSMUST00000099502
AA Change: I1912T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: I1912T

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 benign
Transcript: ENSMUST00000113829
AA Change: I1912T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
AA Change: I1912T

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

unknown
Transcript: ENSMUST00000153398
AA Change: I2377T

SMART Domains

Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: I2377T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157037

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.5%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	T	4: 152,314,241 (GRCm39)	Q188*	probably null	Het
Ano5	T	C	7: 51,196,533 (GRCm39)	Y141H	probably benign	Het
Atg101	G	A	15: 101,188,171 (GRCm39)	G92D	probably null	Het
Cad	G	T	5: 31,216,926 (GRCm39)	G263W	probably damaging	Het
Clstn2	T	C	9: 97,340,227 (GRCm39)	E715G	probably damaging	Het
Cracd	A	G	5: 76,805,779 (GRCm39)		probably benign	Het
Dbp	C	T	7: 45,357,752 (GRCm39)	P70S	probably damaging	Het
Fem1al	T	A	11: 29,773,553 (GRCm39)	N635Y	probably benign	Het
Gpr61	T	A	3: 108,057,830 (GRCm39)	H277L	probably benign	Het
Gsdma3	G	T	11: 98,523,218 (GRCm39)	V203F	probably damaging	Het
Ifih1	G	C	2: 62,447,831 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,020 (GRCm39)	C404S	possibly damaging	Het
Myrfl	A	G	10: 116,613,247 (GRCm39)		probably null	Het
Nfat5	T	G	8: 108,095,659 (GRCm39)	M1300R	probably benign	Het
Nfrkb	C	T	9: 31,325,943 (GRCm39)	P1129S	possibly damaging	Het
Nubp2	A	T	17: 25,102,838 (GRCm39)	N208K	possibly damaging	Het
Or8g20	A	G	9: 39,395,740 (GRCm39)	S270P	probably damaging	Het
Ovch2	T	C	7: 107,384,653 (GRCm39)	D488G	probably damaging	Het
Rfx6	A	T	10: 51,569,833 (GRCm39)	Y202F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Usp4	T	A	9: 108,249,765 (GRCm39)	V431E	probably damaging	Het
Vil1	A	G	1: 74,466,717 (GRCm39)	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,606,162 (GRCm39)	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,534,615 (GRCm39)	N511K	probably benign	Het
Wdr5	T	A	2: 27,421,683 (GRCm39)	F222I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCAATGCAGTCTTTGCTGGGG -3'
(R):5'- ATTAGAGATGAGCACTTGGGCACAC -3'

Sequencing Primer
(F):5'- CTTTGCTGGGGTACAAGCAAATC -3'
(R):5'- GCCTCACTATGTTGGTAAGAAGTC -3'

Posted On

2014-02-11