Incidental Mutation 'IGL02886:Brwd3'
ID 363027
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: 0.341) question?
Stock # IGL02886
Quality Score
Status
Chromosome X
Chromosomal Location 107780622-107877978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107794454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1410 (Y1410C)
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 damaging
Transcript: ENSMUST00000150434
AA Change: Y1410C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123588
Gene: ENSMUSG00000063663
AA Change: Y1410C

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,921,863 (GRCm39) C1140S probably damaging Het
Abhd12b T C 12: 70,229,740 (GRCm39) I238T possibly damaging Het
Adgrb3 T C 1: 25,543,991 (GRCm39) probably null Het
Baz2b A T 2: 59,788,087 (GRCm39) probably null Het
Casp7 T A 19: 56,421,775 (GRCm39) I71N probably damaging Het
Cspg4 A T 9: 56,804,672 (GRCm39) I1828F probably damaging Het
Cul2 T C 18: 3,426,920 (GRCm39) probably benign Het
Efcab3 A G 11: 104,986,700 (GRCm39) D5409G possibly damaging Het
Fam187a A T 11: 102,777,380 (GRCm39) T395S probably benign Het
Fcgr2b A G 1: 170,793,297 (GRCm39) V244A possibly damaging Het
Fubp1 A G 3: 151,926,392 (GRCm39) E333G possibly damaging Het
Ganab G T 19: 8,888,391 (GRCm39) probably benign Het
Hpdl A G 4: 116,677,952 (GRCm39) S170P probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Klhl11 T C 11: 100,363,047 (GRCm39) S170G possibly damaging Het
Lrrc56 A G 7: 140,777,090 (GRCm39) probably benign Het
Lrrd1 T C 5: 3,901,534 (GRCm39) V613A probably benign Het
Myo1e T C 9: 70,276,055 (GRCm39) F757L probably benign Het
Myo5a T A 9: 75,059,169 (GRCm39) probably benign Het
Myocd T A 11: 65,069,569 (GRCm39) D837V probably damaging Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nol4l A G 2: 153,371,457 (GRCm39) F76L probably benign Het
Or10ak7 T C 4: 118,792,027 (GRCm39) E6G probably benign Het
Or2b2b T A 13: 21,859,122 (GRCm39) probably benign Het
Or5b98 T A 19: 12,931,882 (GRCm39) S310T probably benign Het
Pck1 G A 2: 172,996,649 (GRCm39) E188K probably benign Het
Pdcd11 T C 19: 47,102,064 (GRCm39) V1083A possibly damaging Het
Primpol G A 8: 47,046,619 (GRCm39) Q226* probably null Het
Rbm15 A C 3: 107,233,611 (GRCm39) V959G probably benign Het
Rorb A G 19: 18,954,943 (GRCm39) probably null Het
Spata9 T C 13: 76,125,853 (GRCm39) L112P probably damaging Het
Stk24 A T 14: 121,529,527 (GRCm39) L375Q probably null Het
Svip A G 7: 51,655,509 (GRCm39) S11P possibly damaging Het
Taf13 T C 3: 108,488,500 (GRCm39) probably benign Het
Tex30 T C 1: 44,127,683 (GRCm39) Y7C probably damaging Het
Tmem68 T C 4: 3,569,361 (GRCm39) probably benign Het
Tnc T C 4: 63,918,344 (GRCm39) E1189G probably damaging Het
Top2b T C 14: 16,365,688 (GRCm38) S4P possibly damaging Het
Trav3-3 C A 14: 53,903,822 (GRCm39) L47I probably benign Het
Ttn G A 2: 76,733,557 (GRCm39) probably benign Het
Uroc1 A G 6: 90,323,811 (GRCm39) probably benign Het
Other mutations in Brwd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Brwd3 APN X 107,827,852 (GRCm39) splice site probably benign
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 2015-12-18