Incidental Mutation 'R7615:Brwd1'
ID 588889
Institutional Source Beutler Lab
Gene Symbol Brwd1
Ensembl Gene ENSMUSG00000022914
Gene Name bromodomain and WD repeat domain containing 1
Synonyms G1-403-16, repro5, D530019K20Rik, 5330419I02Rik, Wdr9
MMRRC Submission 045683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7615 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95992092-96082428 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96033839 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 942 (F942L)
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: F942L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: F942L

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: F942L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: F942L

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
Meta Mutation Damage Score 0.1415 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (101/101)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,497,849 (GRCm38) I320V possibly damaging Het
Adat2 A G 10: 13,553,276 (GRCm38) K4R probably benign Het
Adgb G A 10: 10,436,010 (GRCm38) L226F probably damaging Het
Adgrb3 C T 1: 25,098,897 (GRCm38) V1192I probably damaging Het
Ahsa2 T A 11: 23,496,750 (GRCm38) N71I possibly damaging Het
Amigo2 T G 15: 97,245,342 (GRCm38) T400P probably damaging Het
Ankhd1 A T 18: 36,656,773 (GRCm38) Q466L Het
Auh T C 13: 52,919,013 (GRCm38) I111V probably benign Het
C1qtnf7 A G 5: 43,616,144 (GRCm38) N262D probably damaging Het
Cdh9 T A 15: 16,856,230 (GRCm38) S785R probably damaging Het
Celsr3 A G 9: 108,837,652 (GRCm38) T2046A possibly damaging Het
Cep170b T C 12: 112,744,665 (GRCm38) V1493A probably damaging Het
Cep290 C T 10: 100,492,681 (GRCm38) R111W probably benign Het
Chd2 T A 7: 73,441,642 (GRCm38) H1617L probably damaging Het
Clnk T C 5: 38,706,698 (GRCm38) D404G probably damaging Het
Col18a1 C T 10: 77,067,005 (GRCm38) G795D probably damaging Het
Csf3r T A 4: 126,037,656 (GRCm38) Y477* probably null Het
Ddx58 T A 4: 40,229,653 (GRCm38) I89F possibly damaging Het
Dnah17 T A 11: 118,110,547 (GRCm38) K857* probably null Het
Dnah2 T G 11: 69,435,304 (GRCm38) I3674L probably damaging Het
Dnah6 A C 6: 73,095,206 (GRCm38) I2431S possibly damaging Het
Eml6 T A 11: 29,802,501 (GRCm38) I971F possibly damaging Het
Fam135b A T 15: 71,463,323 (GRCm38) I674N probably damaging Het
Fancc T A 13: 63,317,558 (GRCm38) probably null Het
Gabrb2 A C 11: 42,626,742 (GRCm38) K464Q probably benign Het
Gbp4 T A 5: 105,122,982 (GRCm38) D261V possibly damaging Het
Gdf3 A G 6: 122,606,916 (GRCm38) V164A probably benign Het
Gm19410 A G 8: 35,796,359 (GRCm38) D978G probably damaging Het
Gm20730 C T 6: 43,081,774 (GRCm38) G35R probably null Het
Gm9733 A G 3: 15,320,485 (GRCm38) V119A probably damaging Het
Grin2b G A 6: 135,923,364 (GRCm38) T173I probably damaging Het
Gtf3c3 A T 1: 54,423,572 (GRCm38) V344E possibly damaging Het
Hsd3b5 A G 3: 98,630,104 (GRCm38) I32T probably damaging Het
Ido1 G C 8: 24,593,188 (GRCm38) L74V probably damaging Het
Igkv1-88 T A 6: 68,862,373 (GRCm38) D85V probably damaging Het
Il22ra1 A G 4: 135,737,459 (GRCm38) I159V probably benign Het
Iqgap1 A G 7: 80,751,346 (GRCm38) V531A probably benign Het
Iqgap1 A T 7: 80,730,100 (GRCm38) F1175Y probably damaging Het
Itga1 T A 13: 114,996,922 (GRCm38) Q484L probably null Het
Itga11 A T 9: 62,744,018 (GRCm38) E281V probably benign Het
Kpna3 T C 14: 61,372,962 (GRCm38) N343S possibly damaging Het
Larp1b A G 3: 41,035,816 (GRCm38) N133S probably benign Het
Larp1b A G 3: 41,033,534 (GRCm38) K64E possibly damaging Het
Lctl T A 9: 64,122,110 (GRCm38) L161H probably damaging Het
Mlip A G 9: 77,230,483 (GRCm38) S381P probably damaging Het
Mroh9 A G 1: 163,046,032 (GRCm38) I518T probably benign Het
Mst1r A G 9: 107,920,012 (GRCm38) Q1360R probably benign Het
Muc5b T A 7: 141,864,892 (GRCm38) C3858* probably null Het
Naip1 A T 13: 100,425,776 (GRCm38) H960Q probably benign Het
Narfl C T 17: 25,782,129 (GRCm38) P452S probably benign Het
Neo1 A T 9: 58,884,503 (GRCm38) S1321T probably benign Het
Nid2 C A 14: 19,802,530 (GRCm38) T1102K probably damaging Het
Nsmaf C T 4: 6,408,563 (GRCm38) V739M probably damaging Het
Olfr1019 T A 2: 85,841,657 (GRCm38) M45L probably benign Het
Olfr1167 T C 2: 88,149,518 (GRCm38) Q167R probably benign Het
Olfr1464-ps1 A G 19: 13,282,590 (GRCm38) I156T probably damaging Het
Olfr727 T G 14: 50,126,989 (GRCm38) S137R probably benign Het
Olfr97 T G 17: 37,231,450 (GRCm38) K307Q probably benign Het
Osbpl9 G A 4: 109,086,339 (GRCm38) P159S probably damaging Het
Parpbp A G 10: 88,093,637 (GRCm38) S450P probably damaging Het
Pdgfrb A G 18: 61,064,046 (GRCm38) T185A probably benign Het
Pkd1 T C 17: 24,593,502 (GRCm38) V3803A probably damaging Het
Plau A T 14: 20,839,466 (GRCm38) K200* probably null Het
Plce1 A T 19: 38,524,665 (GRCm38) Q136L probably benign Het
Plekhd1 C T 12: 80,722,445 (GRCm38) T493I probably benign Het
Pofut1 T C 2: 153,259,418 (GRCm38) S31P unknown Het
Prlr T A 15: 10,325,924 (GRCm38) I243N probably damaging Het
Ptgis A G 2: 167,223,988 (GRCm38) L174P probably damaging Het
Ralgapb T A 2: 158,450,270 (GRCm38) I792K probably damaging Het
Retreg3 C T 11: 101,102,980 (GRCm38) S136N probably damaging Het
Rnf213 C T 11: 119,467,297 (GRCm38) T4291M Het
Rtn1 A G 12: 72,304,143 (GRCm38) Y431H probably damaging Het
Rwdd3 A G 3: 121,171,604 (GRCm38) probably benign Het
Scyl3 A T 1: 163,950,338 (GRCm38) probably null Het
Sh2b2 G T 5: 136,219,657 (GRCm38) Q510K probably damaging Het
Sh2b3 G A 5: 121,818,700 (GRCm38) P333S probably benign Het
Slc27a6 A T 18: 58,609,183 (GRCm38) N490Y probably damaging Het
Slc45a1 C T 4: 150,638,545 (GRCm38) R294Q probably benign Het
Sorl1 A C 9: 41,977,582 (GRCm38) I1974S possibly damaging Het
Specc1l C A 10: 75,263,286 (GRCm38) N857K probably benign Het
Speg T C 1: 75,429,242 (GRCm38) L3030P probably damaging Het
Spsb1 A C 4: 149,906,900 (GRCm38) D70E probably benign Het
Srsf11 A G 3: 158,016,425 (GRCm38) S270P unknown Het
Ssr3 A C 3: 65,387,792 (GRCm38) V100G probably damaging Het
Synpo G A 18: 60,604,475 (GRCm38) T133I probably damaging Het
Tas2r120 T G 6: 132,657,810 (GRCm38) V285G probably benign Het
Tenm4 T A 7: 96,845,926 (GRCm38) V1187D probably damaging Het
Tmed8 C A 12: 87,181,388 (GRCm38) probably null Het
Tmem51 G A 4: 142,037,564 (GRCm38) T61M probably damaging Het
Tonsl A T 15: 76,630,607 (GRCm38) D1132E probably benign Het
Tor1aip1 C T 1: 156,007,584 (GRCm38) V358I possibly damaging Het
Txlna A T 4: 129,630,319 (GRCm38) M415K probably damaging Het
Tyms T A 5: 30,073,560 (GRCm38) probably benign Het
Uggt2 G T 14: 119,089,269 (GRCm38) L177I probably benign Het
Uqcrh T C 4: 116,069,879 (GRCm38) H74R probably benign Het
Wnk1 A T 6: 119,932,738 (GRCm38) S33T probably benign Het
Zfp553 T A 7: 127,236,016 (GRCm38) C248S probably damaging Het
Zfp574 G A 7: 25,080,576 (GRCm38) C341Y possibly damaging Het
Zfp729b T C 13: 67,591,498 (GRCm38) T883A possibly damaging Het
Zfp738 T A 13: 67,670,203 (GRCm38) K556N probably damaging Het
Other mutations in Brwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Brwd1 APN 16 96,017,586 (GRCm38) missense probably damaging 1.00
IGL00974:Brwd1 APN 16 96,043,026 (GRCm38) missense probably damaging 1.00
IGL01014:Brwd1 APN 16 96,016,173 (GRCm38) missense probably benign 0.04
IGL01447:Brwd1 APN 16 96,047,379 (GRCm38) nonsense probably null
IGL01459:Brwd1 APN 16 96,047,420 (GRCm38) missense probably damaging 1.00
IGL01631:Brwd1 APN 16 96,046,466 (GRCm38) missense probably damaging 1.00
IGL02184:Brwd1 APN 16 96,013,829 (GRCm38) missense probably damaging 1.00
IGL02264:Brwd1 APN 16 96,019,456 (GRCm38) missense probably damaging 0.98
IGL02679:Brwd1 APN 16 96,002,823 (GRCm38) missense probably benign
IGL02833:Brwd1 APN 16 96,052,571 (GRCm38) missense probably damaging 1.00
IGL02960:Brwd1 APN 16 96,057,466 (GRCm38) missense probably damaging 1.00
IGL03053:Brwd1 APN 16 96,017,677 (GRCm38) missense possibly damaging 0.75
IGL03074:Brwd1 APN 16 96,011,850 (GRCm38) missense probably benign 0.00
IGL03135:Brwd1 APN 16 96,021,258 (GRCm38) missense probably damaging 0.99
IGL03168:Brwd1 APN 16 96,017,677 (GRCm38) missense possibly damaging 0.75
IGL03214:Brwd1 APN 16 96,037,900 (GRCm38) missense probably benign 0.26
IGL03328:Brwd1 APN 16 96,002,725 (GRCm38) missense probably damaging 0.99
bromide UTSW 16 96,064,887 (GRCm38) missense probably damaging 1.00
Embers UTSW 16 96,017,604 (GRCm38) missense probably damaging 1.00
Glowing UTSW 16 96,035,959 (GRCm38) missense probably damaging 1.00
Soporific UTSW 16 96,033,843 (GRCm38) nonsense probably null
G1citation:Brwd1 UTSW 16 96,041,274 (GRCm38) missense probably benign 0.42
PIT4243001:Brwd1 UTSW 16 96,002,671 (GRCm38) nonsense probably null
R0012:Brwd1 UTSW 16 96,059,652 (GRCm38) missense probably damaging 0.98
R0012:Brwd1 UTSW 16 96,059,652 (GRCm38) missense probably damaging 0.98
R0030:Brwd1 UTSW 16 96,021,256 (GRCm38) missense probably damaging 1.00
R0135:Brwd1 UTSW 16 96,047,104 (GRCm38) missense probably damaging 1.00
R0366:Brwd1 UTSW 16 96,037,964 (GRCm38) nonsense probably null
R0551:Brwd1 UTSW 16 96,035,974 (GRCm38) missense probably damaging 1.00
R0586:Brwd1 UTSW 16 96,043,086 (GRCm38) missense probably damaging 1.00
R0865:Brwd1 UTSW 16 96,068,584 (GRCm38) missense probably damaging 1.00
R1226:Brwd1 UTSW 16 96,031,548 (GRCm38) missense probably benign 0.35
R1329:Brwd1 UTSW 16 96,003,234 (GRCm38) missense probably benign 0.07
R1378:Brwd1 UTSW 16 96,041,370 (GRCm38) missense probably benign 0.06
R1420:Brwd1 UTSW 16 96,036,034 (GRCm38) missense probably damaging 1.00
R1441:Brwd1 UTSW 16 96,066,151 (GRCm38) missense probably damaging 0.99
R1484:Brwd1 UTSW 16 96,028,291 (GRCm38) splice site probably null
R1624:Brwd1 UTSW 16 96,008,144 (GRCm38) missense possibly damaging 0.67
R1636:Brwd1 UTSW 16 96,059,641 (GRCm38) missense probably damaging 1.00
R1988:Brwd1 UTSW 16 96,021,237 (GRCm38) missense probably damaging 0.96
R1998:Brwd1 UTSW 16 96,021,288 (GRCm38) missense probably damaging 1.00
R2066:Brwd1 UTSW 16 96,046,465 (GRCm38) missense probably benign 0.01
R2898:Brwd1 UTSW 16 96,066,100 (GRCm38) missense probably damaging 0.99
R2983:Brwd1 UTSW 16 96,066,574 (GRCm38) missense probably damaging 0.98
R3966:Brwd1 UTSW 16 96,044,530 (GRCm38) missense probably damaging 1.00
R4086:Brwd1 UTSW 16 96,046,372 (GRCm38) missense probably benign 0.03
R4257:Brwd1 UTSW 16 96,023,496 (GRCm38) missense probably damaging 1.00
R4290:Brwd1 UTSW 16 96,017,604 (GRCm38) missense probably damaging 1.00
R4292:Brwd1 UTSW 16 96,017,604 (GRCm38) missense probably damaging 1.00
R4293:Brwd1 UTSW 16 96,017,604 (GRCm38) missense probably damaging 1.00
R4614:Brwd1 UTSW 16 96,047,359 (GRCm38) missense probably damaging 1.00
R4771:Brwd1 UTSW 16 96,003,318 (GRCm38) missense probably benign 0.00
R5025:Brwd1 UTSW 16 96,053,972 (GRCm38) missense probably damaging 0.97
R5155:Brwd1 UTSW 16 96,002,793 (GRCm38) nonsense probably null
R5229:Brwd1 UTSW 16 96,002,209 (GRCm38) missense possibly damaging 0.87
R5246:Brwd1 UTSW 16 96,002,557 (GRCm38) missense probably damaging 1.00
R5668:Brwd1 UTSW 16 96,016,150 (GRCm38) missense probably damaging 1.00
R5763:Brwd1 UTSW 16 96,033,843 (GRCm38) nonsense probably null
R5782:Brwd1 UTSW 16 96,043,043 (GRCm38) nonsense probably null
R5831:Brwd1 UTSW 16 96,019,436 (GRCm38) missense probably damaging 1.00
R5836:Brwd1 UTSW 16 96,064,758 (GRCm38) missense probably damaging 1.00
R5906:Brwd1 UTSW 16 96,058,738 (GRCm38) missense probably damaging 1.00
R5995:Brwd1 UTSW 16 96,064,787 (GRCm38) missense probably damaging 1.00
R6143:Brwd1 UTSW 16 96,002,956 (GRCm38) missense probably benign 0.00
R6241:Brwd1 UTSW 16 96,013,874 (GRCm38) missense probably damaging 1.00
R6313:Brwd1 UTSW 16 96,007,941 (GRCm38) missense probably benign 0.01
R6362:Brwd1 UTSW 16 96,002,307 (GRCm38) missense probably damaging 1.00
R6551:Brwd1 UTSW 16 95,993,962 (GRCm38) missense possibly damaging 0.55
R6736:Brwd1 UTSW 16 96,068,572 (GRCm38) missense probably damaging 1.00
R6822:Brwd1 UTSW 16 96,041,274 (GRCm38) missense probably benign 0.42
R7080:Brwd1 UTSW 16 96,009,530 (GRCm38) missense probably benign 0.01
R7131:Brwd1 UTSW 16 96,066,498 (GRCm38) missense probably damaging 1.00
R7208:Brwd1 UTSW 16 96,035,959 (GRCm38) missense probably damaging 1.00
R7322:Brwd1 UTSW 16 96,066,119 (GRCm38) missense probably damaging 1.00
R7483:Brwd1 UTSW 16 96,056,173 (GRCm38) missense probably damaging 0.99
R7621:Brwd1 UTSW 16 96,064,887 (GRCm38) missense probably damaging 1.00
R7665:Brwd1 UTSW 16 96,041,343 (GRCm38) missense probably benign 0.09
R7697:Brwd1 UTSW 16 96,046,401 (GRCm38) missense probably benign 0.10
R7740:Brwd1 UTSW 16 96,027,368 (GRCm38) missense probably damaging 1.00
R8120:Brwd1 UTSW 16 96,019,449 (GRCm38) missense probably benign 0.23
R8187:Brwd1 UTSW 16 96,002,734 (GRCm38) missense probably damaging 0.98
R8359:Brwd1 UTSW 16 96,016,209 (GRCm38) missense probably damaging 1.00
R8480:Brwd1 UTSW 16 96,047,430 (GRCm38) missense probably damaging 0.98
R8511:Brwd1 UTSW 16 96,058,738 (GRCm38) missense probably damaging 1.00
R9046:Brwd1 UTSW 16 96,028,202 (GRCm38) missense probably damaging 1.00
R9074:Brwd1 UTSW 16 96,023,410 (GRCm38) missense
R9102:Brwd1 UTSW 16 96,068,525 (GRCm38) missense probably benign 0.43
R9115:Brwd1 UTSW 16 96,047,114 (GRCm38) missense probably damaging 1.00
R9130:Brwd1 UTSW 16 96,064,930 (GRCm38) missense probably damaging 1.00
R9200:Brwd1 UTSW 16 96,037,954 (GRCm38) missense probably benign 0.00
R9246:Brwd1 UTSW 16 96,002,816 (GRCm38) missense probably benign 0.00
R9407:Brwd1 UTSW 16 96,002,493 (GRCm38) missense possibly damaging 0.74
R9444:Brwd1 UTSW 16 96,053,980 (GRCm38) missense possibly damaging 0.89
R9451:Brwd1 UTSW 16 96,044,503 (GRCm38) missense probably damaging 1.00
R9673:Brwd1 UTSW 16 96,011,896 (GRCm38) missense probably benign 0.00
R9751:Brwd1 UTSW 16 95,993,815 (GRCm38) missense possibly damaging 0.83
R9753:Brwd1 UTSW 16 96,023,828 (GRCm38) missense probably damaging 1.00
X0017:Brwd1 UTSW 16 96,044,491 (GRCm38) missense probably damaging 1.00
X0028:Brwd1 UTSW 16 96,011,923 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AAGCTTCATGACCCTGACG -3'
(R):5'- TGATTGTAGAAGCTGCAGGG -3'

Sequencing Primer
(F):5'- CGGAAGTACATCACCTGCAAAGG -3'
(R):5'- GATTGGATCCAGATGCATTTAAAATC -3'
Posted On 2019-10-24