Incidental Mutation 'IGL02236:Baz1b'
ID 285893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Baz1b
Ensembl Gene ENSMUSG00000002748
Gene Name bromodomain adjacent to zinc finger domain, 1B
Synonyms Wbscr9, WSTF
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02236
Quality Score
Status
Chromosome 5
Chromosomal Location 135216118-135274983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135246138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 529 (L529P)
Ref Sequence ENSEMBL: ENSMUSP00000002825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002825]
AlphaFold Q9Z277
Predicted Effect probably damaging
Transcript: ENSMUST00000002825
AA Change: L529P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: L529P

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 21 120 2.6e-28 PFAM
low complexity region 312 335 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
low complexity region 482 493 N/A INTRINSIC
coiled coil region 537 587 N/A INTRINSIC
DDT 605 669 5.59e-17 SMART
Pfam:WHIM1 725 773 2.2e-9 PFAM
low complexity region 822 835 N/A INTRINSIC
coiled coil region 854 890 N/A INTRINSIC
Pfam:WHIM2 900 935 1.3e-10 PFAM
Pfam:WHIM3 991 1029 1.5e-16 PFAM
low complexity region 1131 1148 N/A INTRINSIC
PHD 1186 1232 1.89e-14 SMART
RING 1187 1231 7.85e-2 SMART
low complexity region 1245 1277 N/A INTRINSIC
BROMO 1333 1441 3.63e-37 SMART
low complexity region 1459 1472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142307
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Baz1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Baz1b APN 5 135,245,444 (GRCm39) missense probably damaging 0.99
IGL00589:Baz1b APN 5 135,225,346 (GRCm39) missense possibly damaging 0.50
IGL00736:Baz1b APN 5 135,268,886 (GRCm39) missense probably damaging 1.00
IGL02053:Baz1b APN 5 135,271,320 (GRCm39) missense probably benign 0.00
IGL02197:Baz1b APN 5 135,237,951 (GRCm39) missense probably benign 0.20
IGL02351:Baz1b APN 5 135,273,160 (GRCm39) missense probably damaging 1.00
IGL02358:Baz1b APN 5 135,273,160 (GRCm39) missense probably damaging 1.00
IGL02424:Baz1b APN 5 135,246,833 (GRCm39) missense probably damaging 1.00
IGL03051:Baz1b APN 5 135,246,079 (GRCm39) missense probably benign 0.02
PIT4480001:Baz1b UTSW 5 135,246,819 (GRCm39) missense probably damaging 1.00
R0097:Baz1b UTSW 5 135,227,113 (GRCm39) missense probably benign 0.11
R0097:Baz1b UTSW 5 135,227,113 (GRCm39) missense probably benign 0.11
R0365:Baz1b UTSW 5 135,268,985 (GRCm39) missense probably benign 0.00
R0655:Baz1b UTSW 5 135,271,284 (GRCm39) missense probably benign 0.00
R0698:Baz1b UTSW 5 135,227,075 (GRCm39) missense probably damaging 1.00
R0959:Baz1b UTSW 5 135,273,076 (GRCm39) missense probably damaging 1.00
R1411:Baz1b UTSW 5 135,259,177 (GRCm39) missense possibly damaging 0.73
R1469:Baz1b UTSW 5 135,246,833 (GRCm39) missense probably damaging 1.00
R1469:Baz1b UTSW 5 135,246,833 (GRCm39) missense probably damaging 1.00
R1511:Baz1b UTSW 5 135,246,636 (GRCm39) missense probably damaging 1.00
R1557:Baz1b UTSW 5 135,247,097 (GRCm39) missense possibly damaging 0.94
R1674:Baz1b UTSW 5 135,233,965 (GRCm39) missense probably damaging 1.00
R1760:Baz1b UTSW 5 135,271,378 (GRCm39) missense probably benign
R1951:Baz1b UTSW 5 135,245,593 (GRCm39) missense probably benign 0.11
R2058:Baz1b UTSW 5 135,246,079 (GRCm39) missense probably benign 0.02
R2060:Baz1b UTSW 5 135,233,968 (GRCm39) missense probably damaging 1.00
R2142:Baz1b UTSW 5 135,246,129 (GRCm39) missense probably damaging 1.00
R2496:Baz1b UTSW 5 135,239,629 (GRCm39) missense probably damaging 1.00
R4088:Baz1b UTSW 5 135,245,794 (GRCm39) missense probably damaging 0.96
R4397:Baz1b UTSW 5 135,273,300 (GRCm39) missense probably damaging 1.00
R4784:Baz1b UTSW 5 135,246,267 (GRCm39) missense possibly damaging 0.51
R4785:Baz1b UTSW 5 135,246,267 (GRCm39) missense possibly damaging 0.51
R5386:Baz1b UTSW 5 135,266,913 (GRCm39) missense probably damaging 1.00
R5653:Baz1b UTSW 5 135,237,951 (GRCm39) missense probably benign 0.20
R5808:Baz1b UTSW 5 135,250,812 (GRCm39) missense probably benign 0.00
R6010:Baz1b UTSW 5 135,246,305 (GRCm39) missense possibly damaging 0.82
R6014:Baz1b UTSW 5 135,246,248 (GRCm39) missense probably damaging 1.00
R6173:Baz1b UTSW 5 135,271,361 (GRCm39) missense probably benign
R6194:Baz1b UTSW 5 135,272,744 (GRCm39) missense probably damaging 0.99
R6419:Baz1b UTSW 5 135,271,348 (GRCm39) missense probably benign
R6435:Baz1b UTSW 5 135,266,799 (GRCm39) missense probably damaging 1.00
R7078:Baz1b UTSW 5 135,246,293 (GRCm39) missense probably benign 0.04
R7341:Baz1b UTSW 5 135,251,970 (GRCm39) missense probably damaging 1.00
R7683:Baz1b UTSW 5 135,246,582 (GRCm39) missense probably damaging 0.97
R7922:Baz1b UTSW 5 135,260,533 (GRCm39) missense probably damaging 0.99
R8188:Baz1b UTSW 5 135,233,916 (GRCm39) missense probably benign 0.12
R8429:Baz1b UTSW 5 135,246,185 (GRCm39) missense probably benign 0.01
R8436:Baz1b UTSW 5 135,266,821 (GRCm39) missense probably damaging 1.00
R8489:Baz1b UTSW 5 135,245,709 (GRCm39) missense probably damaging 1.00
R8688:Baz1b UTSW 5 135,271,343 (GRCm39) missense probably benign 0.01
R8771:Baz1b UTSW 5 135,273,151 (GRCm39) missense probably benign 0.19
R8832:Baz1b UTSW 5 135,246,230 (GRCm39) missense possibly damaging 0.95
R9086:Baz1b UTSW 5 135,260,538 (GRCm39) missense probably damaging 1.00
R9192:Baz1b UTSW 5 135,239,648 (GRCm39) missense possibly damaging 0.93
R9340:Baz1b UTSW 5 135,246,729 (GRCm39) missense probably benign 0.09
R9356:Baz1b UTSW 5 135,239,653 (GRCm39) missense probably benign 0.08
R9448:Baz1b UTSW 5 135,239,656 (GRCm39) missense probably damaging 1.00
R9507:Baz1b UTSW 5 135,233,971 (GRCm39) missense probably damaging 1.00
R9559:Baz1b UTSW 5 135,216,532 (GRCm39) missense probably benign 0.05
R9651:Baz1b UTSW 5 135,252,022 (GRCm39) missense probably benign
R9694:Baz1b UTSW 5 135,273,094 (GRCm39) missense probably benign 0.00
X0027:Baz1b UTSW 5 135,245,746 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16