Incidental Mutation 'R7483:Brwd1'
ID 579965
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 045557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 95793292-95883726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95857373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 396 (R396G)
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: R396G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: R396G

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: R396G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: R396G

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
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,794,075 (GRCm39) probably null Het
Ahnak T C 19: 8,982,186 (GRCm39) S1157P probably damaging Het
Akap12 T G 10: 4,303,967 (GRCm39) V364G probably benign Het
Ankrd17 A G 5: 90,447,855 (GRCm39) S229P probably benign Het
Apof A T 10: 128,104,636 (GRCm39) Y5F probably benign Het
Arhgap24 T A 5: 102,989,174 (GRCm39) M94K probably benign Het
Ash2l G T 8: 26,312,798 (GRCm39) D479E probably damaging Het
Atp8a2 A T 14: 60,245,824 (GRCm39) C623S probably benign Het
Bmper T A 9: 23,395,238 (GRCm39) N656K probably benign Het
Braf T C 6: 39,604,772 (GRCm39) I619V possibly damaging Het
Car7 A T 8: 105,276,216 (GRCm39) T234S probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cemip T G 7: 83,647,784 (GRCm39) I99L probably damaging Het
Chrna7 C A 7: 62,754,738 (GRCm39) V290L probably damaging Het
Clip1 A T 5: 123,755,447 (GRCm39) D944E probably benign Het
Cplane2 A G 4: 140,947,153 (GRCm39) D178G probably damaging Het
Cyp2c68 T C 19: 39,677,581 (GRCm39) T470A probably benign Het
Dmbx1 G T 4: 115,780,908 (GRCm39) A31D probably damaging Het
Dnah7b T C 1: 46,214,579 (GRCm39) F1115L probably damaging Het
Dock10 T C 1: 80,493,283 (GRCm39) I1897V probably benign Het
Efcab3 A G 11: 105,000,112 (GRCm39) I234V probably benign Het
Eid2b T G 7: 27,977,243 (GRCm39) L13R probably damaging Het
Enam A G 5: 88,649,679 (GRCm39) Y396C probably damaging Het
Fam161a A T 11: 22,971,006 (GRCm39) T395S probably damaging Het
Fat1 A G 8: 45,476,197 (GRCm39) R1748G probably benign Het
Fdxacb1 C A 9: 50,681,451 (GRCm39) T124K possibly damaging Het
Fer1l6 A T 15: 58,513,794 (GRCm39) D1563V possibly damaging Het
Gm20834 T C Y: 10,323,226 (GRCm39) H70R probably damaging Het
Gucy2d T A 7: 98,098,964 (GRCm39) M261K probably damaging Het
Hcar2 T A 5: 124,002,861 (GRCm39) Q214L probably benign Het
Hdac11 C T 6: 91,136,214 (GRCm39) H75Y probably damaging Het
Hoxa2 C A 6: 52,141,279 (GRCm39) A116S probably benign Het
Ints2 A G 11: 86,106,444 (GRCm39) C989R probably damaging Het
Jpt1 T C 11: 115,393,950 (GRCm39) E36G probably damaging Het
Kdm5d G A Y: 914,044 (GRCm39) R327Q possibly damaging Het
Klhl1 T C 14: 96,584,304 (GRCm39) M309V probably benign Het
Larp4 A G 15: 99,889,659 (GRCm39) K193E probably benign Het
Lmo3 C T 6: 138,393,500 (GRCm39) C40Y probably damaging Het
Mcm4 A G 16: 15,448,306 (GRCm39) V417A probably benign Het
Med8 A G 4: 118,268,176 (GRCm39) E34G probably damaging Het
Mex3b G T 7: 82,517,114 (GRCm39) A86S possibly damaging Het
Muc6 T C 7: 141,224,245 (GRCm39) T1646A unknown Het
Myo15b A T 11: 115,749,570 (GRCm39) E113D Het
Myo7a T A 7: 97,712,881 (GRCm39) H1698L probably benign Het
Myocos T A 1: 162,484,678 (GRCm39) M44L unknown Het
Nalcn A G 14: 123,551,499 (GRCm39) V1036A probably damaging Het
Nfrkb C T 9: 31,325,328 (GRCm39) Q924* probably null Het
Nol6 A G 4: 41,117,424 (GRCm39) L923P possibly damaging Het
Nrxn3 T C 12: 89,477,232 (GRCm39) Y472H probably damaging Het
Nudcd1 A G 15: 44,269,253 (GRCm39) Y136H possibly damaging Het
Obox2 T C 7: 15,131,241 (GRCm39) C116R probably damaging Het
Onecut3 A T 10: 80,331,310 (GRCm39) S157C unknown Het
Or10ak11 A G 4: 118,687,517 (GRCm39) V39A probably damaging Het
Or11g27 T A 14: 50,771,472 (GRCm39) V201D probably benign Het
Or2d2b T A 7: 106,705,982 (GRCm39) I29F probably benign Het
Or4f15 T C 2: 111,814,124 (GRCm39) I98M probably damaging Het
Oscp1 C T 4: 125,967,726 (GRCm39) R91* probably null Het
Pclo A T 5: 14,762,606 (GRCm39) D408V Het
Pde8a T C 7: 80,932,581 (GRCm39) V81A probably benign Het
Pde8b T A 13: 95,164,251 (GRCm39) D653V probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pik3cg T C 12: 32,245,647 (GRCm39) Y867C probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Psd4 A T 2: 24,294,768 (GRCm39) D776V possibly damaging Het
Ptprb A G 10: 116,119,334 (GRCm39) E156G probably benign Het
Rad54b A G 4: 11,610,372 (GRCm39) Y663C probably damaging Het
Ranbp3l T A 15: 9,030,955 (GRCm39) V78D possibly damaging Het
Rbm12 T C 2: 155,940,138 (GRCm39) I45V unknown Het
Scn9a A G 2: 66,363,692 (GRCm39) V862A probably damaging Het
Sdcbp T C 4: 6,393,089 (GRCm39) I242T possibly damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc45a3 G T 1: 131,904,549 (GRCm39) probably benign Het
Srpk1 T C 17: 28,813,192 (GRCm39) I517M probably benign Het
Tmx4 A G 2: 134,481,581 (GRCm39) M114T probably benign Het
Trhr T A 15: 44,092,627 (GRCm39) V288D probably damaging Het
Tspoap1 A T 11: 87,652,351 (GRCm39) I42F probably benign Het
Ttn A T 2: 76,781,856 (GRCm39) D1063E unknown Het
Tusc3 A G 8: 39,538,635 (GRCm39) I225V probably benign Het
Ugt2b38 A G 5: 87,571,973 (GRCm39) S20P probably damaging Het
Upf2 A G 2: 6,032,219 (GRCm39) T922A unknown Het
Usp38 C T 8: 81,741,190 (GRCm39) probably benign Het
Vmn1r216 A G 13: 23,283,738 (GRCm39) I140M probably damaging Het
Vmn2r115 T A 17: 23,565,371 (GRCm39) N419K possibly damaging Het
Vmn2r55 C T 7: 12,404,755 (GRCm39) G216D probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt7b C A 15: 85,421,615 (GRCm39) R349L possibly damaging Het
Xbp1 T C 11: 5,471,098 (GRCm39) V35A probably benign Het
Zan A T 5: 137,445,057 (GRCm39) M1734K unknown Het
Zfhx4 A G 3: 5,477,237 (GRCm39) E3284G probably damaging Het
Zfp458 A G 13: 67,404,978 (GRCm39) L487S possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zp1 A G 19: 10,895,280 (GRCm39) L324P 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
R7322:Brwd1 UTSW 16 95,867,319 (GRCm39) missense probably damaging 1.00
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'- GGTGCACTTTCCTTCATTAATTCAG -3'
(R):5'- AGCCTTGTCCTGAATAATCTGAC -3'

Sequencing Primer
(F):5'- CCAACAACTCACCTATGTG -3'
(R):5'- CCTTGAATAACATCTGTAGATCAGG -3'
Posted On 2019-10-07