Incidental Mutation 'R3705:Brwd3'
ID258730
Institutional Source Beutler Lab
Gene Symbol Brwd3
Ensembl Gene ENSMUSG00000063663
Gene Namebromodomain and WD repeat domain containing 3
SynonymsBrodl, LOC236955, D030064D06Rik
MMRRC Submission 040698-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.445) question?
Stock #R3705 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location108737016-108834372 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 108760415 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041866] [ENSMUST00000144521] [ENSMUST00000150434]
Predicted Effect probably benign
Transcript: ENSMUST00000041866
Predicted Effect probably benign
Transcript: ENSMUST00000144521
Predicted Effect probably benign
Transcript: ENSMUST00000150434
SMART Domains Protein: ENSMUSP00000123588
Gene: ENSMUSG00000063663

DomainStartEndE-ValueType
low complexity region 134 145 N/A INTRINSIC
WD40 169 208 6.84e-7 SMART
WD40 211 250 1.59e-7 SMART
WD40 253 296 4.44e-6 SMART
WD40 307 346 5.52e0 SMART
WD40 351 392 6.84e-7 SMART
WD40 410 451 3.07e1 SMART
WD40 454 494 2.14e-8 SMART
WD40 497 541 3.98e0 SMART
low complexity region 817 827 N/A INTRINSIC
low complexity region 845 858 N/A INTRINSIC
low complexity region 896 906 N/A INTRINSIC
BROMO 1138 1245 1.75e-12 SMART
low complexity region 1258 1277 N/A INTRINSIC
BROMO 1300 1429 3.42e-15 SMART
low complexity region 1436 1463 N/A INTRINSIC
low complexity region 1512 1530 N/A INTRINSIC
low complexity region 1576 1594 N/A INTRINSIC
low complexity region 1598 1629 N/A INTRINSIC
low complexity region 1665 1724 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit short tail buds, microcephaly and, in some cases, embryonic growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,987,581 C2703S probably damaging Het
9930111J21Rik1 T C 11: 48,947,976 T595A possibly damaging Het
Abca12 T C 1: 71,285,705 D1538G probably damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 136,241,241 probably benign Het
Bcap29 T C 12: 31,617,152 H170R probably benign Het
Capn1 T C 19: 6,007,371 E349G probably damaging Het
Cers3 G T 7: 66,786,075 A261S probably benign Het
Csf3r A G 4: 126,032,285 D221G possibly damaging Het
Cubn T A 2: 13,350,943 H1826L probably damaging Het
Dnajc19 A G 3: 34,080,229 probably null Het
Dync1h1 G A 12: 110,640,586 V2566I possibly damaging Het
Ehd1 A G 19: 6,298,300 D436G probably benign Het
Fam133b T C 5: 3,561,034 probably benign Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Gm13084 T C 4: 143,811,775 T209A probably benign Het
Gpnmb T A 6: 49,051,865 I439N possibly damaging Het
Grm1 G A 10: 10,782,729 T339I possibly damaging Het
Gtpbp3 T G 8: 71,492,135 S345A probably benign Het
Hdac4 A G 1: 91,934,694 probably benign Het
Hfm1 A G 5: 106,892,839 probably benign Het
Ift172 A G 5: 31,261,437 probably null Het
Igfn1 T C 1: 135,968,409 N1473S probably benign Het
Jak3 A G 8: 71,681,522 K423E probably damaging Het
Kifc3 G A 8: 95,104,028 probably benign Het
Lrrc8d T C 5: 105,813,475 S584P probably damaging Het
Nipal4 T C 11: 46,161,851 probably benign Het
Nisch A G 14: 31,176,745 probably benign Het
Nmur2 T C 11: 56,040,474 Y137C probably damaging Het
Nod2 T C 8: 88,653,320 S150P probably benign Het
Olfr153 A G 2: 87,532,068 I12V probably benign Het
Pdgfc T C 3: 81,204,444 probably null Het
Phldb1 G T 9: 44,694,394 H1323N probably damaging Het
Ppp1r14c A G 10: 3,423,524 I112V possibly damaging Het
Rcc1l A T 5: 134,154,191 V414E probably damaging Het
Riok3 A G 18: 12,148,954 M327V probably benign Het
Sf3b4 T C 3: 96,176,628 probably benign Het
Spag6 A G 2: 18,710,557 Y49C probably damaging Het
Syngap1 T C 17: 26,960,020 S495P probably damaging Het
Tedc2 A G 17: 24,216,387 S343P probably benign Het
Tenm2 T A 11: 36,068,326 D1132V probably damaging Het
Tmem63a G A 1: 180,963,114 D446N possibly damaging Het
Top1 G A 2: 160,702,824 probably null Het
Tox3 G T 8: 90,248,905 T366K possibly damaging Het
Tph2 G A 10: 115,119,893 Q332* probably null Het
Zfr2 T G 10: 81,246,079 V493G probably benign Het
Other mutations in Brwd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Brwd3 APN X 108784246 splice site probably benign
IGL02886:Brwd3 APN X 108750848 missense probably damaging 1.00
R3704:Brwd3 UTSW X 108760415 splice site probably benign
Z1088:Brwd3 UTSW X 108774860 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCACTCTTCACAGTAGTTAC -3'
(R):5'- GGAAGACTTTAAGAGAGACCATATCAC -3'

Sequencing Primer
(F):5'- CACTGGAAGGAGCTATCA -3'
(R):5'- TCACGAGTTATGTATGACG -3'
Posted On2015-01-23