Incidental Mutation 'R1624:Brwd1'
ID 174928
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 039661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1624 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 95793292-95883726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95809344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1895 (N1895K)
Ref Sequence ENSEMBL: ENSMUSP00000117066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000153398]
AlphaFold Q921C3
Predicted Effect probably benign
Transcript: ENSMUST00000023631
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914

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
SMART Domains Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914

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 noncoding transcript
Transcript: ENSMUST00000127777
Predicted Effect possibly damaging
Transcript: ENSMUST00000153398
AA Change: N1895K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
AA Change: N1895K

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
internal_repeat_1 1491 1957 1.45e-251 PROSPERO
internal_repeat_1 1956 2422 1.45e-251 PROSPERO
low complexity region 2630 2639 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157037
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,496 (GRCm39) Y68C probably damaging Het
6820408C15Rik A T 2: 152,276,031 (GRCm39) H81L probably damaging Het
Acbd4 A G 11: 102,994,785 (GRCm39) T48A probably damaging Het
Acp3 T A 9: 104,197,200 (GRCm39) E146D probably benign Het
Acsm1 T A 7: 119,251,796 (GRCm39) I307N probably damaging Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agl T C 3: 116,580,895 (GRCm39) T356A probably benign Het
Ago1 A G 4: 126,357,534 (GRCm39) I47T probably damaging Het
Akr1c6 T A 13: 4,496,363 (GRCm39) Y75N probably benign Het
Anxa2 T A 9: 69,386,990 (GRCm39) S92T probably benign Het
Arid4b T C 13: 14,358,979 (GRCm39) S585P probably damaging Het
Arl4d T C 11: 101,557,842 (GRCm39) S123P possibly damaging Het
Atad2 A T 15: 57,963,415 (GRCm39) D1067E probably damaging Het
Brap C A 5: 121,820,922 (GRCm39) T403K possibly damaging Het
Ccdc187 T C 2: 26,171,087 (GRCm39) T464A probably benign Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdh11 T C 8: 103,391,233 (GRCm39) probably benign Het
Chd9 A T 8: 91,725,163 (GRCm39) Y691F probably benign Het
Clhc1 A T 11: 29,519,287 (GRCm39) I365F possibly damaging Het
Col11a1 A G 3: 113,951,804 (GRCm39) Q1078R probably damaging Het
Creb3 G A 4: 43,566,375 (GRCm39) V294I possibly damaging Het
Cspg4 T C 9: 56,795,754 (GRCm39) I1163T probably damaging Het
Cyp3a57 A C 5: 145,327,225 (GRCm39) probably null Het
Dnah3 A T 7: 119,618,918 (GRCm39) I1661N probably damaging Het
Dpysl4 A C 7: 138,669,469 (GRCm39) D49A probably damaging Het
Efhb T A 17: 53,733,306 (GRCm39) I522F probably damaging Het
Epha4 T C 1: 77,376,329 (GRCm39) T517A probably damaging Het
Fasn A G 11: 120,703,937 (GRCm39) S1466P probably damaging Het
Fgd6 A T 10: 93,973,298 (GRCm39) D1253V probably benign Het
Fjx1 G A 2: 102,281,509 (GRCm39) A142V probably benign Het
Foxb1 T C 9: 69,666,598 (GRCm39) T311A probably benign Het
Fpgs A G 2: 32,581,200 (GRCm39) probably null Het
Gm10024 A G 10: 77,547,606 (GRCm39) probably null Het
Gnat3 A T 5: 18,208,841 (GRCm39) T182S possibly damaging Het
Igsf3 T A 3: 101,362,543 (GRCm39) F875I probably benign Het
Kif13b A G 14: 64,976,068 (GRCm39) E461G probably damaging Het
Kif23 A T 9: 61,832,982 (GRCm39) probably null Het
Kntc1 G A 5: 123,896,540 (GRCm39) R134Q possibly damaging Het
Krt33a A T 11: 99,905,072 (GRCm39) Y145N probably damaging Het
Lama5 A G 2: 179,848,551 (GRCm39) V313A probably benign Het
Lamb1 T C 12: 31,328,651 (GRCm39) probably null Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mtor C T 4: 148,632,133 (GRCm39) L2336F probably damaging Het
Naglu T C 11: 100,967,351 (GRCm39) S434P probably damaging Het
Ncoa7 T A 10: 30,580,655 (GRCm39) H101L possibly damaging Het
Nlrc4 G A 17: 74,752,184 (GRCm39) T733I possibly damaging Het
Nr3c2 A G 8: 77,636,573 (GRCm39) E558G probably damaging Het
Nsun4 A T 4: 115,891,397 (GRCm39) N327K probably benign Het
Or11g27 A G 14: 50,771,100 (GRCm39) Y77C probably damaging Het
Or1x2 T C 11: 50,917,952 (GRCm39) V41A probably damaging Het
Or2m13 T A 16: 19,226,454 (GRCm39) Y104F probably benign Het
Or4f6 T A 2: 111,838,877 (GRCm39) Y218F probably damaging Het
Or6b13 T C 7: 139,781,864 (GRCm39) N273S probably damaging Het
Pdia2 T A 17: 26,415,495 (GRCm39) I441F probably damaging Het
Phyh T C 2: 4,930,494 (GRCm39) S74P probably benign Het
Pigo A G 4: 43,024,661 (GRCm39) L146P probably damaging Het
Plce1 A G 19: 38,713,219 (GRCm39) D1191G probably damaging Het
Plrg1 T C 3: 82,975,301 (GRCm39) probably benign Het
Plrg1 G A 3: 82,977,051 (GRCm39) R364Q probably damaging Het
Polr3b T C 10: 84,515,669 (GRCm39) L614S probably damaging Het
Pramel16 A T 4: 143,676,400 (GRCm39) C235S possibly damaging Het
Prrg4 A G 2: 104,663,027 (GRCm39) V193A probably damaging Het
Prss16 T A 13: 22,187,483 (GRCm39) E47V probably benign Het
Ptpru G A 4: 131,499,861 (GRCm39) T1261I probably damaging Het
Pycard A G 7: 127,591,970 (GRCm39) S124P possibly damaging Het
Riok1 C A 13: 38,221,487 (GRCm39) D17E probably damaging Het
Scin T A 12: 40,177,929 (GRCm39) Y102F probably benign Het
Scmh1 A G 4: 120,386,425 (GRCm39) H655R probably damaging Het
Scyl2 A T 10: 89,476,598 (GRCm39) N842K probably benign Het
Sec23b T A 2: 144,409,049 (GRCm39) M211K probably benign Het
Serpina3i A C 12: 104,234,897 (GRCm39) *409C probably null Het
Sgk2 G A 2: 162,839,779 (GRCm39) R129H probably benign Het
Slc39a13 A G 2: 90,898,871 (GRCm39) I80T probably damaging Het
Smarcad1 A G 6: 65,029,631 (GRCm39) D73G probably benign Het
Spata18 A C 5: 73,826,888 (GRCm39) T276P probably damaging Het
Srgap1 T G 10: 121,691,278 (GRCm39) M319L probably benign Het
Stx7 T A 10: 24,060,903 (GRCm39) V210E probably damaging Het
Tjp2 T A 19: 24,108,776 (GRCm39) H112L probably benign Het
Tuba8 A T 6: 121,197,385 (GRCm39) I16F probably damaging Het
Ube3c G A 5: 29,851,617 (GRCm39) A815T probably benign Het
Vmn2r5 A T 3: 64,417,116 (GRCm39) V14E probably benign Het
Vmn2r79 A T 7: 86,653,247 (GRCm39) probably null Het
Zdbf2 A G 1: 63,343,018 (GRCm39) T466A 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
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
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'- AGCCTGAAGAGACACCAGCACTTG -3'
(R):5'- AAGGACCAGCTTATTTCCTGCCG -3'

Sequencing Primer
(F):5'- GAGACACCAGCACTTGTCTTG -3'
(R):5'- GCCTCACTATGTTGGTAAGAAGTC -3'
Posted On 2014-04-24