Incidental Mutation 'IGL00516:Baz1b'
ID5526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Baz1b
Ensembl Gene ENSMUSG00000002748
Gene Namebromodomain adjacent to zinc finger domain, 1B
SynonymsWSTF, Wbscr9
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00516
Quality Score
Status
Chromosome5
Chromosomal Location135187264-135246129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135216590 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 298 (Y298H)
Ref Sequence ENSEMBL: ENSMUSP00000002825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002825]
Predicted Effect probably damaging
Transcript: ENSMUST00000002825
AA Change: Y298H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: Y298H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176793
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,376,812 D91G possibly damaging Het
Abcc1 T A 16: 14,413,312 L438* probably null Het
Asph A T 4: 9,639,322 N14K probably damaging Het
Ccdc66 A T 14: 27,498,456 W267R probably damaging Het
Cd81 A C 7: 143,067,164 K193N probably damaging Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Cflar T C 1: 58,732,310 I199T probably benign Het
Cmya5 A G 13: 93,098,167 S138P possibly damaging Het
Cnot1 T C 8: 95,726,079 N2123S probably damaging Het
Crybg3 A G 16: 59,530,440 S846P probably benign Het
Cyp2d9 A G 15: 82,455,094 I21M probably benign Het
Ddx41 T C 13: 55,532,467 T371A probably damaging Het
Dnhd1 A T 7: 105,657,211 I425F possibly damaging Het
Dsc1 T C 18: 20,101,886 D237G probably damaging Het
Emc1 T C 4: 139,355,082 probably benign Het
Epc1 T A 18: 6,450,515 D367V probably damaging Het
Glp1r A G 17: 30,925,558 Y235C probably damaging Het
Helb A G 10: 120,105,424 V453A probably damaging Het
Hras A G 7: 141,192,870 I24T possibly damaging Het
Hsf2 A T 10: 57,512,028 I423L probably benign Het
Igkv2-109 T A 6: 68,303,070 S92T probably benign Het
Kiss1r G A 10: 79,918,716 A15T possibly damaging Het
Krt79 T C 15: 101,940,166 S17G probably damaging Het
Lrrc14b T C 13: 74,360,959 D443G probably damaging Het
Map4k4 T A 1: 40,014,602 V953E probably damaging Het
Mybpc2 G A 7: 44,505,405 probably benign Het
Nadsyn1 T C 7: 143,812,793 E173G probably damaging Het
Neurl4 C T 11: 69,910,393 R1199W probably damaging Het
Otog T A 7: 46,251,282 V333E probably damaging Het
Pdcd2l A T 7: 34,184,821 probably null Het
Plagl1 A G 10: 13,127,872 probably benign Het
Rbm34 T C 8: 126,969,986 N122S probably benign Het
Shank2 A G 7: 144,410,775 K917E possibly damaging Het
Slc17a8 T C 10: 89,591,295 K315E possibly damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Sytl2 A G 7: 90,372,905 T183A probably benign Het
Tnik T A 3: 28,654,218 I1067N probably damaging Het
Tpd52l2 A G 2: 181,513,068 D192G probably damaging Het
Trhde A T 10: 114,446,199 I791N probably benign Het
Ttc28 A T 5: 111,225,688 N966Y probably damaging Het
Vps13b A T 15: 35,640,557 D1356V probably damaging Het
Zmym2 A G 14: 56,947,937 probably benign Het
Other mutations in Baz1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Baz1b APN 5 135196492 missense possibly damaging 0.50
IGL00736:Baz1b APN 5 135240032 missense probably damaging 1.00
IGL02053:Baz1b APN 5 135242466 missense probably benign 0.00
IGL02197:Baz1b APN 5 135209097 missense probably benign 0.20
IGL02236:Baz1b APN 5 135217284 missense probably damaging 1.00
IGL02351:Baz1b APN 5 135244306 missense probably damaging 1.00
IGL02358:Baz1b APN 5 135244306 missense probably damaging 1.00
IGL02424:Baz1b APN 5 135217979 missense probably damaging 1.00
IGL03051:Baz1b APN 5 135217225 missense probably benign 0.02
PIT4480001:Baz1b UTSW 5 135217965 missense probably damaging 1.00
R0097:Baz1b UTSW 5 135198259 missense probably benign 0.11
R0097:Baz1b UTSW 5 135198259 missense probably benign 0.11
R0365:Baz1b UTSW 5 135240131 missense probably benign 0.00
R0655:Baz1b UTSW 5 135242430 missense probably benign 0.00
R0698:Baz1b UTSW 5 135198221 missense probably damaging 1.00
R0959:Baz1b UTSW 5 135244222 missense probably damaging 1.00
R1411:Baz1b UTSW 5 135230323 missense possibly damaging 0.73
R1469:Baz1b UTSW 5 135217979 missense probably damaging 1.00
R1469:Baz1b UTSW 5 135217979 missense probably damaging 1.00
R1511:Baz1b UTSW 5 135217782 missense probably damaging 1.00
R1557:Baz1b UTSW 5 135218243 missense possibly damaging 0.94
R1674:Baz1b UTSW 5 135205111 missense probably damaging 1.00
R1760:Baz1b UTSW 5 135242524 missense probably benign
R1951:Baz1b UTSW 5 135216739 missense probably benign 0.11
R2058:Baz1b UTSW 5 135217225 missense probably benign 0.02
R2060:Baz1b UTSW 5 135205114 missense probably damaging 1.00
R2142:Baz1b UTSW 5 135217275 missense probably damaging 1.00
R2496:Baz1b UTSW 5 135210775 missense probably damaging 1.00
R4088:Baz1b UTSW 5 135216940 missense probably damaging 0.96
R4397:Baz1b UTSW 5 135244446 missense probably damaging 1.00
R4784:Baz1b UTSW 5 135217413 missense possibly damaging 0.51
R4785:Baz1b UTSW 5 135217413 missense possibly damaging 0.51
R5386:Baz1b UTSW 5 135238059 missense probably damaging 1.00
R5653:Baz1b UTSW 5 135209097 missense probably benign 0.20
R5808:Baz1b UTSW 5 135221958 missense probably benign 0.00
R6010:Baz1b UTSW 5 135217451 missense possibly damaging 0.82
R6014:Baz1b UTSW 5 135217394 missense probably damaging 1.00
R6173:Baz1b UTSW 5 135242507 missense probably benign
R6194:Baz1b UTSW 5 135243890 missense probably damaging 0.99
R6419:Baz1b UTSW 5 135242494 missense probably benign
R6435:Baz1b UTSW 5 135237945 missense probably damaging 1.00
R7078:Baz1b UTSW 5 135217439 missense probably benign 0.04
R7341:Baz1b UTSW 5 135223116 missense probably damaging 1.00
X0027:Baz1b UTSW 5 135216892 missense probably benign 0.00
Posted On2012-04-20