Incidental Mutation 'IGL00907:Brwd3'
ID 29573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brwd3
Ensembl Gene ENSMUSG00000063663
Gene Name bromodomain and WD repeat domain containing 3
Synonyms D030064D06Rik, LOC236955, Brodl
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.375) question?
Stock # IGL00907
Quality Score
Status
Chromosome X
Chromosomal Location 107780622-107877978 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 107827852 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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 (GRCm38) F379V possibly damaging Het
Atp8b1 T C 18: 64,694,776 (GRCm39) D502G possibly damaging Het
Ccdc171 T A 4: 83,782,486 (GRCm39) H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 (GRCm39) I1401T probably damaging Het
Csf1 T C 3: 107,657,662 (GRCm39) N76S probably damaging Het
Dld A G 12: 31,382,329 (GRCm39) probably benign Het
Eif5 T A 12: 111,506,989 (GRCm39) I141N probably damaging Het
Etl4 G A 2: 20,771,289 (GRCm39) G674D possibly damaging Het
Fam234a G A 17: 26,432,500 (GRCm39) R550W probably damaging Het
Hipk2 A G 6: 38,795,208 (GRCm39) S347P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hsd17b2 A T 8: 118,461,433 (GRCm39) I157L probably benign Het
Ibtk A G 9: 85,572,384 (GRCm39) S1269P possibly damaging Het
Igsf3 T C 3: 101,334,764 (GRCm39) probably benign Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Kir3dl1 G A X: 135,425,911 (GRCm39) C95Y probably damaging Het
Lamc2 A G 1: 153,020,397 (GRCm39) V383A probably benign Het
Mael A G 1: 166,032,418 (GRCm39) Y314H probably damaging Het
Npat T C 9: 53,474,590 (GRCm39) V794A possibly damaging Het
Nr4a2 T A 2: 56,999,229 (GRCm39) I340F probably damaging Het
Or4c103 A G 2: 88,513,638 (GRCm39) V146A probably benign Het
Or5p56 A T 7: 107,590,097 (GRCm39) D175V probably damaging Het
Or7g21 T A 9: 19,032,528 (GRCm39) D89E possibly damaging Het
Pdcd11 T C 19: 47,096,003 (GRCm39) V641A probably benign Het
Phf24 C T 4: 42,938,667 (GRCm39) T264I probably benign Het
Sars2 G T 7: 28,452,848 (GRCm39) probably benign Het
Scn1a A C 2: 66,158,141 (GRCm39) S411A probably damaging Het
Srsf5 T C 12: 80,994,608 (GRCm39) V112A probably damaging Het
Susd2 T C 10: 75,476,765 (GRCm39) N206S probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Other mutations in Brwd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02886:Brwd3 APN X 107,794,454 (GRCm39) missense probably damaging 1.00
R3704:Brwd3 UTSW X 107,804,021 (GRCm39) splice site probably benign
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
Posted On 2013-04-17