Incidental Mutation 'R7078:Baz1b'
ID 549336
Institutional Source Beutler Lab
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 # R7078 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 135216118-135274983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135246293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 581 (F581I)
Ref Sequence ENSEMBL: ENSMUSP00000002825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002825]
AlphaFold Q9Z277
Predicted Effect probably benign
Transcript: ENSMUST00000002825
AA Change: F581I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: F581I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,154,138 (GRCm39) R953Q possibly damaging Het
Aldh1a1 A T 19: 20,579,434 (GRCm39) H20L probably benign Het
Ankrd52 T A 10: 128,219,526 (GRCm39) C487S probably benign Het
Ap1s3 T C 1: 79,602,845 (GRCm39) E54G probably benign Het
Arglu1 A C 8: 8,717,361 (GRCm39) M236R probably benign Het
Bbox1 T G 2: 110,122,884 (GRCm39) D135A probably benign Het
Bcl2l14 T A 6: 134,400,786 (GRCm39) V69E probably damaging Het
Brinp3 C T 1: 146,390,627 (GRCm39) Q58* probably null Het
Ccnb1ip1 T A 14: 51,029,724 (GRCm39) K113* probably null Het
Cep128 T C 12: 91,200,878 (GRCm39) I830M probably damaging Het
Ces2f C T 8: 105,681,284 (GRCm39) T541I probably damaging Het
Chsy3 C A 18: 59,309,149 (GRCm39) P134Q possibly damaging Het
Cobl T G 11: 12,328,271 (GRCm39) T112P probably damaging Het
Cplane2 A T 4: 140,947,159 (GRCm39) Y180F probably benign Het
Dcc T A 18: 71,680,469 (GRCm39) K589I probably benign Het
Depdc1b T A 13: 108,523,505 (GRCm39) I460K possibly damaging Het
Dlst T C 12: 85,157,705 (GRCm39) F12S probably benign Het
Dnah1 G C 14: 31,019,067 (GRCm39) F1342L probably damaging Het
Dtnb A G 12: 3,798,480 (GRCm39) Q438R possibly damaging Het
Dusp4 C A 8: 35,275,065 (GRCm39) S61R probably damaging Het
E130308A19Rik A G 4: 59,737,688 (GRCm39) Y433C probably damaging Het
Ebf2 T C 14: 67,661,407 (GRCm39) S512P probably benign Het
Elapor2 A G 5: 9,460,709 (GRCm39) N210S probably benign Het
Eya1 C T 1: 14,301,636 (GRCm39) probably null Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fzr1 T A 10: 81,204,463 (GRCm39) D379V probably damaging Het
Gk2 T A 5: 97,604,195 (GRCm39) E214D probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gmnc A T 16: 26,779,272 (GRCm39) V251E probably benign Het
Golga3 A G 5: 110,340,953 (GRCm39) Q549R probably damaging Het
Gsdmd T G 15: 75,736,204 (GRCm39) V111G probably damaging Het
Gtf3c1 T C 7: 125,244,914 (GRCm39) T1707A possibly damaging Het
Gucy2c C T 6: 136,674,937 (GRCm39) V1049M probably benign Het
Gucy2g A G 19: 55,229,583 (GRCm39) V29A probably damaging Het
Hecw1 A T 13: 14,609,044 (GRCm39) M1K probably null Het
Hmcn1 T C 1: 150,736,118 (GRCm39) D117G probably damaging Het
Ifnab T A 4: 88,609,350 (GRCm39) T39S possibly damaging Het
Lcorl A G 5: 45,904,566 (GRCm39) Y171H probably damaging Het
Ly6g6c C T 17: 35,288,437 (GRCm39) P103L probably damaging Het
Macf1 T G 4: 123,325,936 (GRCm39) E5189A probably damaging Het
Mapkap1 A G 2: 34,453,151 (GRCm39) E348G probably damaging Het
Med25 G T 7: 44,534,325 (GRCm39) A280D probably damaging Het
Mep1b C A 18: 21,233,108 (GRCm39) A703E probably benign Het
Morn5 T A 2: 35,944,990 (GRCm39) N71K probably benign Het
Mtmr10 T A 7: 63,970,375 (GRCm39) Y373N possibly damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ncbp1 G C 4: 46,155,756 (GRCm39) V302L probably benign Het
Notch4 A G 17: 34,801,520 (GRCm39) T1123A possibly damaging Het
Nudt18 T A 14: 70,816,452 (GRCm39) M88K possibly damaging Het
Or12k8 A G 2: 36,975,608 (GRCm39) S51P possibly damaging Het
Or5b100-ps1 A T 19: 12,994,097 (GRCm39) D170V possibly damaging Het
Or6d12 T A 6: 116,493,632 (GRCm39) L298Q probably damaging Het
Or8g4 A T 9: 39,661,787 (GRCm39) Y35F possibly damaging Het
Pdcd6ip T C 9: 113,488,953 (GRCm39) N694S probably benign Het
Pecam1 T A 11: 106,579,773 (GRCm39) T430S probably benign Het
Plaa T G 4: 94,462,288 (GRCm39) T530P probably benign Het
Ppfia3 G T 7: 45,010,019 (GRCm39) Q95K probably damaging Het
Ppp4r2 T C 6: 100,843,274 (GRCm39) S331P probably benign Het
Prg4 T C 1: 150,334,014 (GRCm39) T117A possibly damaging Het
Prrc2b A T 2: 32,103,531 (GRCm39) D1003V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rasef T C 4: 73,698,626 (GRCm39) I12V probably benign Het
Robo2 T G 16: 74,149,504 (GRCm39) Y108S probably damaging Het
Rp1 T A 1: 4,277,014 (GRCm39) E762V unknown Het
Rsrc1 T C 3: 66,901,987 (GRCm39) S46P unknown Het
Rttn A T 18: 89,027,546 (GRCm39) T554S probably benign Het
Sall3 C T 18: 81,017,314 (GRCm39) V205M probably damaging Het
Scn3a C A 2: 65,327,944 (GRCm39) V849L probably damaging Het
Sec23a A G 12: 59,039,069 (GRCm39) C277R probably benign Het
Sf3b3 C T 8: 111,539,639 (GRCm39) A1075T possibly damaging Het
Sfxn5 T C 6: 85,309,366 (GRCm39) D113G unknown Het
Slc22a22 C T 15: 57,126,876 (GRCm39) M64I probably benign Het
Slc5a11 C T 7: 122,857,669 (GRCm39) P253S probably damaging Het
Smarcd3 A G 5: 24,798,067 (GRCm39) F449S probably damaging Het
Sspo C T 6: 48,437,313 (GRCm39) T1357M probably damaging Het
Styx C T 14: 45,609,873 (GRCm39) T179I probably benign Het
Syt7 A T 19: 10,412,963 (GRCm39) T297S probably benign Het
Tbx19 T A 1: 164,988,135 (GRCm39) probably benign Het
Tg T A 15: 66,545,392 (GRCm39) V149E probably damaging Het
Tgfbr3l T A 8: 4,299,238 (GRCm39) L35Q probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem219 T A 7: 126,490,975 (GRCm39) T161S probably damaging Het
Tox2 T A 2: 163,162,501 (GRCm39) L68H Het
Trim5 T A 7: 103,927,681 (GRCm39) D153V possibly damaging Het
Ttn T C 2: 76,580,651 (GRCm39) Y23414C probably damaging Het
Ttn A T 2: 76,582,153 (GRCm39) N22913K probably damaging Het
Ubr2 A C 17: 47,266,779 (GRCm39) M1124R possibly damaging Het
Vmn2r75 A G 7: 85,815,568 (GRCm39) S99P probably damaging Het
Wdr83 T C 8: 85,802,680 (GRCm39) D219G probably damaging Het
Wdr90 C T 17: 26,068,623 (GRCm39) V1285M probably damaging Het
Zmynd15 A T 11: 70,351,581 (GRCm39) L62F probably damaging 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
IGL02236:Baz1b APN 5 135,246,138 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATAGAGCCCGTCTTCCAGAAG -3'
(R):5'- GCACTCAAGGCTTCCATTAGGG -3'

Sequencing Primer
(F):5'- GGCTCTTGTCCAGAAACGCTATG -3'
(R):5'- TCCATTAGGGACACAGCAGTG -3'
Posted On 2019-05-15