Incidental Mutation 'IGL00907:Brwd3'
ID29573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brwd3
Ensembl Gene ENSMUSG00000063663
Gene Namebromodomain and WD repeat domain containing 3
SynonymsBrodl, LOC236955, D030064D06Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.464) question?
Stock #IGL00907
Quality Score
Status
ChromosomeX
Chromosomal Location108737016-108834372 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 108784246 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
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 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Brwd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02886:Brwd3 APN X 108750848 missense probably damaging 1.00
R3704:Brwd3 UTSW X 108760415 splice site probably benign
R3705:Brwd3 UTSW X 108760415 splice site probably benign
Z1088:Brwd3 UTSW X 108774860 missense probably damaging 1.00
Posted On2013-04-17