Incidental Mutation 'R7208:Brwd1'
ID 560901
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 045285-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7208 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95793292-95883726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95837159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 891 (R891Q)
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: R891Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: R891Q

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: R891Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: R891Q

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 0.1747 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (76/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,074,629 (GRCm39) K854E probably damaging Het
Abcd2 G T 15: 91,074,885 (GRCm39) Y309* probably null Het
Ache G A 5: 137,289,751 (GRCm39) G360D probably damaging Het
Acot12 T C 13: 91,929,361 (GRCm39) L396P probably benign Het
Acox2 T G 14: 8,241,303 (GRCm38) D603A probably benign Het
Adam3 C A 8: 25,201,417 (GRCm39) K245N probably damaging Het
Ankhd1 T C 18: 36,758,081 (GRCm39) I925T probably benign Het
Arhgap27 C T 11: 103,251,585 (GRCm39) V48M probably damaging Het
Atm A T 9: 53,423,308 (GRCm39) probably null Het
B4galt4 T A 16: 38,574,302 (GRCm39) F92Y probably damaging Het
Calcr T C 6: 3,687,612 (GRCm39) Q462R probably benign Het
Ccdc112 T C 18: 46,420,698 (GRCm39) R351G probably damaging Het
Ccdc80 T G 16: 44,917,073 (GRCm39) S610A probably benign Het
Cdh20 C A 1: 104,881,796 (GRCm39) N420K possibly damaging Het
Cntn3 G A 6: 102,255,383 (GRCm39) R172* probably null Het
Ctnnd1 G T 2: 84,452,390 (GRCm39) Q78K possibly damaging Het
D16Ertd472e A T 16: 78,372,814 (GRCm39) L41H probably damaging Het
Dclk2 A T 3: 86,706,909 (GRCm39) probably null Het
Dmwd C T 7: 18,814,234 (GRCm39) H295Y probably benign Het
Dnai2 T C 11: 114,647,988 (GRCm39) V588A unknown Het
Dnai4 T G 4: 102,923,549 (GRCm39) I427L probably benign Het
Dtx4 C T 19: 12,459,437 (GRCm39) probably null Het
Dync2h1 C A 9: 7,141,059 (GRCm39) D1323Y probably damaging Het
Fcgbp T A 7: 27,803,446 (GRCm39) H1683Q probably benign Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Gm9195 A G 14: 72,689,192 (GRCm39) S1876P possibly damaging Het
Grhl2 A C 15: 37,335,980 (GRCm39) K431T probably damaging Het
Grm7 T G 6: 111,335,530 (GRCm39) I647S possibly damaging Het
Gtf2ird1 T C 5: 134,439,948 (GRCm39) N94S probably benign Het
Gvin2 A C 7: 105,551,386 (GRCm39) S555R possibly damaging Het
Hmgcs1 G T 13: 120,162,620 (GRCm39) G195W probably damaging Het
Hrc A T 7: 44,985,989 (GRCm39) Y380F possibly damaging Het
Kcnu1 C T 8: 26,409,665 (GRCm39) Q863* probably null Het
Lemd2 G A 17: 27,415,165 (GRCm39) P300L probably damaging Het
Lnpep A T 17: 17,773,172 (GRCm39) Y665* probably null Het
Lrfn1 A G 7: 28,166,564 (GRCm39) T653A probably benign Het
Ly6g6c A G 17: 35,286,387 (GRCm39) T8A unknown Het
Mcm5 T C 8: 75,848,344 (GRCm39) probably null Het
Med28 A T 5: 45,680,794 (GRCm39) D86V probably damaging Het
Mup11 A G 4: 60,615,725 (GRCm39) S171P possibly damaging Het
Nckap1 A G 2: 80,370,542 (GRCm39) F383L probably benign Het
Nid1 G C 13: 13,642,970 (GRCm39) G303R probably benign Het
Nkain3 A G 4: 20,282,892 (GRCm39) V147A probably benign Het
Or12k8 A G 2: 36,975,670 (GRCm39) V30A probably benign Het
Pde9a G A 17: 31,639,258 (GRCm39) V63I possibly damaging Het
Pdlim2 T A 14: 70,411,826 (GRCm39) I69F probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phf20l1 T C 15: 66,476,638 (GRCm39) I245T probably benign Het
Prmt8 C T 6: 127,666,792 (GRCm39) R394H possibly damaging Het
Prorp A G 12: 55,355,430 (GRCm39) probably null Het
Prpf4b T A 13: 35,067,994 (GRCm39) D274E unknown Het
Psmd6 A T 14: 14,112,225 (GRCm38) probably null Het
Rgs16 T C 1: 153,617,416 (GRCm39) L69P probably damaging Het
Robo3 A T 9: 37,336,020 (GRCm39) I482N probably damaging Het
Scara3 C T 14: 66,168,715 (GRCm39) V301I possibly damaging Het
Serpina1b T A 12: 103,694,553 (GRCm39) H397L probably benign Het
Skint11 T A 4: 114,088,944 (GRCm39) L246Q probably damaging Het
Skint5 T A 4: 113,396,536 (GRCm39) R1212S unknown Het
Slc11a2 T C 15: 100,300,213 (GRCm39) D348G probably benign Het
Slc15a2 T C 16: 36,576,643 (GRCm39) K495E probably benign Het
Son T G 16: 91,458,990 (GRCm39) D2072E unknown Het
Stau1 A G 2: 166,805,494 (GRCm39) V34A probably damaging Het
Stk3 G T 15: 35,073,262 (GRCm39) L153I possibly damaging Het
Swi5 A T 2: 32,177,922 (GRCm39) V13E probably benign Het
Syne2 A T 12: 76,078,172 (GRCm39) probably null Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tep1 T A 14: 51,062,013 (GRCm39) probably null Het
Tmc6 A G 11: 117,667,151 (GRCm39) V149A probably benign Het
Tmem214 T A 5: 31,028,065 (GRCm39) V95E possibly damaging Het
Tnnt2 T A 1: 135,778,114 (GRCm39) probably null Het
Txlna A G 4: 129,525,071 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,038,948 (GRCm39) I841T probably damaging Het
Wasf2 G A 4: 132,923,045 (GRCm39) V452I probably damaging Het
Wdr62 C T 7: 29,951,761 (GRCm39) D673N probably damaging Het
Wdr95 C T 5: 149,518,836 (GRCm39) T559I probably benign Het
Zbtb40 A T 4: 136,726,937 (GRCm39) probably null Het
Zfat T C 15: 68,051,856 (GRCm39) E646G probably benign 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
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'- CAGAGTGAGGTTTGAGGTCC -3'
(R):5'- AACCTGTGGGTCTTAGCTGG -3'

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