Incidental Mutation 'R9246:Brwd1'
ID 701328
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9246 (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 95804016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 2051 (S2051R)
Ref Sequence ENSEMBL: ENSMUSP00000023631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023631] [ENSMUST00000099502]
AlphaFold Q921C3
Predicted Effect probably benign
Transcript: ENSMUST00000023631
AA Change: S2051R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
AA Change: S2051R

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: ENSMUST00000099502
AA Change: S2051R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
AA Change: S2051R

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: 98.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,279,961 (GRCm39) T314I probably benign Het
Abca7 G A 10: 79,838,535 (GRCm39) S603N probably damaging Het
Abcc2 T C 19: 43,786,882 (GRCm39) F168L probably benign Het
Abcc8 T C 7: 45,774,289 (GRCm39) T764A probably benign Het
Acot4 A C 12: 84,090,097 (GRCm39) I265L probably benign Het
Adrb2 C A 18: 62,312,226 (GRCm39) A200S probably damaging Het
Atp2c2 G T 8: 120,456,989 (GRCm39) R197L probably damaging Het
Bmpr1a T C 14: 34,156,664 (GRCm39) T121A probably benign Het
Card10 T C 15: 78,673,036 (GRCm39) E547G possibly damaging Het
Cbln1 A T 8: 88,197,048 (GRCm39) I139N probably damaging Het
Ccdc86 CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA 19: 10,926,162 (GRCm39) probably benign Het
Cdh16 C T 8: 105,344,602 (GRCm39) D510N probably benign Het
Cdh2 G A 18: 16,781,654 (GRCm39) Q146* probably null Het
Cdhr1 T G 14: 36,801,654 (GRCm39) K763T possibly damaging Het
Cfl1 G C 19: 5,543,634 (GRCm39) G204R probably damaging Het
Clcn6 A T 4: 148,113,866 (GRCm39) V64E probably benign Het
Col4a4 G A 1: 82,430,956 (GRCm39) P1649S unknown Het
Ctnna1 T A 18: 35,356,562 (GRCm39) N410K probably benign Het
Dhx34 A G 7: 15,937,162 (GRCm39) F845S probably damaging Het
Dnah7c T G 1: 46,571,934 (GRCm39) N802K possibly damaging Het
Dnmt3a T C 12: 3,949,204 (GRCm39) S492P probably damaging Het
Fhit C A 14: 10,421,494 (GRCm38) probably null Het
Fzd2 A T 11: 102,496,749 (GRCm39) I398F possibly damaging Het
Gm9195 A G 14: 72,710,314 (GRCm39) S457P probably benign Het
Gnao1 A G 8: 94,676,967 (GRCm39) K211E Het
Gzme T C 14: 56,356,198 (GRCm39) D100G probably benign Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Hoxd4 G A 2: 74,558,747 (GRCm39) C190Y possibly damaging Het
Hr T A 14: 70,808,915 (GRCm39) V1097E probably damaging Het
Iqca1l T G 5: 24,753,969 (GRCm39) E430A probably benign Het
Kdm3b A T 18: 34,941,480 (GRCm39) K524* probably null Het
Kif18a A G 2: 109,163,819 (GRCm39) T723A probably benign Het
Kif1a A G 1: 93,005,501 (GRCm39) V91A probably damaging Het
Krtap19-2 AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA AAAGCCTCCA 16: 88,670,859 (GRCm39) probably benign Het
Lama3 G A 18: 12,710,959 (GRCm39) V1559M probably damaging Het
Maco1 A G 4: 134,565,242 (GRCm39) V47A possibly damaging Het
Msto1 A T 3: 88,819,411 (GRCm39) I160N probably damaging Het
Muc5ac C A 7: 141,364,215 (GRCm39) Q2509K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1ad8 T A 11: 50,897,891 (GRCm39) F31I probably damaging Het
Or2ag2b C T 7: 106,417,938 (GRCm39) T216I probably benign Het
Or52ad1 C T 7: 102,995,908 (GRCm39) V76I probably damaging Het
Or7e170 T C 9: 19,795,686 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,222 (GRCm39) M136K probably damaging Het
Pik3c3 C A 18: 30,466,364 (GRCm39) A805D probably damaging Het
Pnn A G 12: 59,116,929 (GRCm39) Q167R probably damaging Het
Pogk G T 1: 166,226,380 (GRCm39) H590Q probably damaging Het
Prkcd A G 14: 30,327,432 (GRCm39) L251P probably damaging Het
Prrc1 T A 18: 57,496,208 (GRCm39) V53E probably benign Het
Ripor1 T C 8: 106,345,522 (GRCm39) F856S unknown Het
Rnf31 G A 14: 55,833,698 (GRCm39) A569T probably benign Het
Robo1 T A 16: 72,769,178 (GRCm39) D532E probably benign Het
Sh2d6 T A 6: 72,497,594 (GRCm39) K3* probably null Het
Slc22a27 T C 19: 7,874,209 (GRCm39) T289A probably benign Het
Speg T C 1: 75,361,498 (GRCm39) S171P probably damaging Het
Stag1 T A 9: 100,770,329 (GRCm39) F622I probably benign Het
Stxbp1 T C 2: 32,679,586 (GRCm39) D589G possibly damaging Het
Syne1 T C 10: 5,255,706 (GRCm39) I2391M probably benign Het
Sytl2 A G 7: 90,007,384 (GRCm39) M49V probably benign Het
Tmem185b T C 1: 119,454,368 (GRCm39) V43A probably damaging Het
Trappc8 A T 18: 20,993,590 (GRCm39) M499K possibly damaging Het
Vmn1r172 T A 7: 23,359,593 (GRCm39) S159R possibly damaging Het
Vmn1r62 A G 7: 5,678,628 (GRCm39) Y103C probably damaging Het
Vmn1r65 C T 7: 6,011,769 (GRCm39) C155Y possibly damaging Het
Vmn2r112 G A 17: 22,824,088 (GRCm39) V448I probably benign Het
Zfp592 A T 7: 80,691,529 (GRCm39) D1236V probably benign Het
Zfp827 T C 8: 79,803,132 (GRCm39) V568A possibly damaging Het
Zscan4-ps3 A T 7: 11,346,320 (GRCm39) I147F probably 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
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
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'- CTCACCATCTACCTCAGGATGC -3'
(R):5'- AGAGAATCCCAGTCAGGCTG -3'

Sequencing Primer
(F):5'- ATCTACCTCAGGATGCATTCTC -3'
(R):5'- ATCCCAGTCAGGCTGCAAGTG -3'
Posted On 2022-03-25