Incidental Mutation 'R3704:Brwd3'
ID 258680
Institutional Source Beutler Lab
Gene Symbol Brwd3
Ensembl Gene ENSMUSG00000063663
Gene Name bromodomain and WD repeat domain containing 3
Synonyms D030064D06Rik, LOC236955, Brodl
MMRRC Submission 040697-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # R3704 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 107780622-107877978 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 107804021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041866] [ENSMUST00000144521] [ENSMUST00000150434]
AlphaFold A2AHJ4
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: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 91.8%
Validation Efficiency 100% (49/49)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Akap13 T C 7: 75,316,298 (GRCm39) C585R probably damaging Het
Akr1b10 G T 6: 34,371,689 (GRCm39) D285Y probably damaging Het
Akr1b10 A G 6: 34,371,690 (GRCm39) D257G probably benign Het
Ankrd17 A T 5: 90,391,828 (GRCm39) N1838K possibly damaging Het
Asap3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGAGGAGGA 4: 135,968,552 (GRCm39) probably benign Het
Bcap29 T C 12: 31,667,151 (GRCm39) H170R probably benign Het
Capn1 T C 19: 6,057,401 (GRCm39) E349G probably damaging Het
Cd27 C T 6: 125,210,361 (GRCm39) C222Y probably damaging Het
Cdh12 C A 15: 21,583,912 (GRCm39) T584K probably damaging Het
Col13a1 A G 10: 61,703,608 (GRCm39) probably null Het
Col22a1 T C 15: 71,842,156 (GRCm39) T443A probably damaging Het
Crisp3 A G 17: 40,546,848 (GRCm39) probably benign Het
Cubn T A 2: 13,355,754 (GRCm39) H1826L probably damaging Het
Eci2 A G 13: 35,177,216 (GRCm39) probably benign Het
Fat2 A C 11: 55,200,476 (GRCm39) F866C probably damaging Het
Fbxl7 C A 15: 26,543,841 (GRCm39) G269C probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifi35 G A 11: 101,339,430 (GRCm39) M1I probably null Het
Jarid2 A G 13: 45,055,831 (GRCm39) T308A probably benign Het
Kcnq3 A G 15: 65,893,588 (GRCm39) probably null Het
Kcnt2 C T 1: 140,461,706 (GRCm39) T819M probably damaging Het
Kifc3 G A 8: 95,830,656 (GRCm39) probably benign Het
Mill1 A G 7: 17,996,978 (GRCm39) T190A possibly damaging Het
Mosmo A G 7: 120,329,828 (GRCm39) I150V probably damaging Het
Nemf C A 12: 69,377,904 (GRCm39) D566Y probably damaging Het
Nisch A G 14: 30,898,702 (GRCm39) probably benign Het
Or8b101 T A 9: 38,020,299 (GRCm39) F106I possibly damaging Het
Paip2 A G 18: 35,743,974 (GRCm39) T9A probably benign Het
Pde5a T C 3: 122,572,668 (GRCm39) S318P probably benign Het
Plcd1 T C 9: 118,905,277 (GRCm39) I145V possibly damaging Het
Prl2c2 C T 13: 13,176,810 (GRCm39) R37H probably damaging Het
Raet1e A G 10: 22,056,744 (GRCm39) T107A probably benign Het
Reps1 T G 10: 17,983,428 (GRCm39) F424V probably damaging Het
Skint6 A T 4: 112,993,669 (GRCm39) V401D possibly damaging Het
Srgn T C 10: 62,333,609 (GRCm39) D56G probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Ttn A T 2: 76,662,124 (GRCm39) probably benign Het
Ugt2b37 A T 5: 87,390,846 (GRCm39) F340L possibly damaging Het
Xirp1 T A 9: 120,016,907 (GRCm38) Q970L probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zmat4 A G 8: 24,287,430 (GRCm39) R59G probably benign Het
Other mutations in Brwd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Brwd3 APN X 107,827,852 (GRCm39) splice site probably benign
IGL02886:Brwd3 APN X 107,794,454 (GRCm39) missense probably damaging 1.00
R3705:Brwd3 UTSW X 107,804,021 (GRCm39) splice site probably benign
Z1088:Brwd3 UTSW X 107,818,466 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCACTCTTCACAGTAGTTAC -3'
(R):5'- GAGAGACCATATCACAAACTTGTAG -3'

Sequencing Primer
(F):5'- CACTGGAAGGAGCTATCA -3'
(R):5'- TCACGAGTTATGTATGACG -3'
Posted On 2015-01-23