Incidental Mutation 'R7322:Brwd1'
ID 568245
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 045417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 95793292-95883726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95867319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 172 (M172K)
Ref Sequence ENSEMBL: ENSMUSP00000023631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000113827]
AlphaFold Q921C3
Predicted Effect probably damaging
Transcript: ENSMUST00000023631
AA Change: M172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: M172K

DomainStartEndE-ValueType
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: M172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: M172K

DomainStartEndE-ValueType
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: ENSMUST00000113827
SMART Domains Protein: ENSMUSP00000109458
Gene: ENSMUSG00000022914

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,067,151 (GRCm39) V1352D probably damaging Het
Adam33 C T 2: 130,895,614 (GRCm39) C567Y probably damaging Het
Alppl2 C A 1: 87,015,184 (GRCm39) G422C probably benign Het
Ang T A 14: 51,338,868 (GRCm39) I3K unknown Het
Ankrd10 A T 8: 11,665,841 (GRCm39) V253E probably damaging Het
Arhgef17 T C 7: 100,527,004 (GRCm39) I806V probably benign Het
Atp10b T C 11: 43,103,374 (GRCm39) L586P probably damaging Het
Bdkrb1 T C 12: 105,570,563 (GRCm39) V43A possibly damaging Het
Brinp3 C T 1: 146,558,426 (GRCm39) R117* probably null Het
Bsn G A 9: 108,003,620 (GRCm39) R262* probably null Het
Bst2 A C 8: 71,989,851 (GRCm39) L74R probably damaging Het
C1qa T C 4: 136,623,465 (GRCm39) *246W probably null Het
Cadm2 G A 16: 66,679,734 (GRCm39) T42M probably damaging Het
Ccdc150 A G 1: 54,299,125 (GRCm39) T34A probably benign Het
Ccdc178 G A 18: 22,238,606 (GRCm39) T337M probably benign Het
Ccl8 T C 11: 82,007,408 (GRCm39) V81A probably damaging Het
Dgcr6 A G 16: 17,888,771 (GRCm39) T69A unknown Het
Dnah10 A G 5: 124,898,333 (GRCm39) D3762G probably benign Het
Eif3d T C 15: 77,845,876 (GRCm39) T382A probably benign Het
Epb41 A T 4: 131,717,030 (GRCm39) Y375N probably damaging Het
Epb41l1 A T 2: 156,345,771 (GRCm39) H258L probably damaging Het
Fbn1 A C 2: 125,321,115 (GRCm39) I81S possibly damaging Het
Fzd5 A G 1: 64,774,487 (GRCm39) S425P probably damaging Het
Gfra2 T A 14: 71,205,831 (GRCm39) V398D probably benign Het
Gm3755 A G 14: 18,620,904 (GRCm39) L130P Het
Grin3b A G 10: 79,811,529 (GRCm39) Y705C probably damaging Het
Hmcn2 A G 2: 31,349,093 (GRCm39) D4944G probably damaging Het
Hoxd11 T C 2: 74,514,355 (GRCm39) L295P probably damaging Het
Ighv1-81 C A 12: 115,884,287 (GRCm39) G16C possibly damaging Het
Kcna5 T C 6: 126,510,754 (GRCm39) D458G possibly damaging Het
Klb A T 5: 65,540,707 (GRCm39) E933D probably benign Het
Lrp1 A T 10: 127,381,433 (GRCm39) M3855K probably benign Het
Map3k4 A T 17: 12,489,833 (GRCm39) L533I probably damaging Het
Mrps6 C A 16: 91,855,335 (GRCm39) Y4* probably null Het
Nabp1 A T 1: 51,512,229 (GRCm39) V105E probably damaging Het
Naip6 T A 13: 100,435,896 (GRCm39) N876Y possibly damaging Het
Nlrp2 T C 7: 5,311,644 (GRCm39) S944G possibly damaging Het
Nr4a3 A T 4: 48,083,238 (GRCm39) E590D probably benign Het
Or10h5 A G 17: 33,434,673 (GRCm39) I215T probably damaging Het
Or1b1 T C 2: 36,995,603 (GRCm39) R20G probably null Het
Or52ab2 T A 7: 102,970,494 (GRCm39) V292E Het
Or5j1 A T 2: 86,878,823 (GRCm39) Y252* probably null Het
Or8k22 C T 2: 86,162,908 (GRCm39) S264N probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pdzd2 T C 15: 12,437,248 (GRCm39) D451G probably damaging Het
Pkd2l1 A G 19: 44,146,129 (GRCm39) S142P probably benign Het
Postn T C 3: 54,277,701 (GRCm39) L232P probably damaging Het
Prss8 T C 7: 127,528,735 (GRCm39) T33A probably benign Het
Ptgr3 A G 18: 84,113,260 (GRCm39) Y312C probably damaging Het
Rapgef2 A T 3: 79,053,130 (GRCm39) M1K probably null Het
Rasa3 T C 8: 13,645,857 (GRCm39) N161S possibly damaging Het
Riox1 G A 12: 83,997,442 (GRCm39) probably benign Het
Rmdn2 A T 17: 79,929,040 (GRCm39) K97N probably damaging Het
Sgo1 A G 17: 53,984,085 (GRCm39) L431P probably damaging Het
Slc9a8 T A 2: 167,293,222 (GRCm39) V217E probably damaging Het
Slco2b1 C T 7: 99,341,055 (GRCm39) G21D not run Het
Spata31d1d C A 13: 59,874,790 (GRCm39) R915L probably benign Het
Stk17b A T 1: 53,805,104 (GRCm39) N152K probably benign Het
Syne2 T A 12: 76,030,798 (GRCm39) I3634N probably damaging Het
Tnfrsf9 A G 4: 151,018,794 (GRCm39) D155G probably damaging Het
Tnrc6a T A 7: 122,770,731 (GRCm39) D840E probably benign Het
Tyk2 G A 9: 21,021,500 (GRCm39) S902L probably benign Het
Unc119 T C 11: 78,239,449 (GRCm39) S235P probably damaging Het
Vav1 A C 17: 57,609,266 (GRCm39) D394A probably benign Het
Vezf1 T A 11: 87,972,410 (GRCm39) I439K possibly damaging Het
Zfp335 A T 2: 164,752,741 (GRCm39) M1K probably null Het
Zfp715 T C 7: 42,960,562 (GRCm39) T10A possibly damaging Het
Zmynd11 C T 13: 9,740,445 (GRCm39) E382K possibly damaging Het
Other mutations in Brwd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTAGAGAAACTACAGACGTCAGGC -3'
(R):5'- GCCTTCGGCTTCTCAAGTAG -3'

Sequencing Primer
(F):5'- GACTCCCCACACTCTCAGATG -3'
(R):5'- CAAGTAGATGTGCTTACGCTCCAG -3'
Posted On 2019-06-26