Incidental Mutation 'R2058:Baz1b'
ID 228355
Institutional Source Beutler Lab
Gene Symbol Baz1b
Ensembl Gene ENSMUSG00000002748
Gene Name bromodomain adjacent to zinc finger domain, 1B
Synonyms Wbscr9, WSTF
MMRRC Submission 040063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2058 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135216118-135274983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135246079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 509 (N509K)
Ref Sequence ENSEMBL: ENSMUSP00000002825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002825]
AlphaFold Q9Z277
Predicted Effect probably benign
Transcript: ENSMUST00000002825
AA Change: N509K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
AA Change: N509K

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 99% (94/95)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 25,162,082 (GRCm39) probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Arhgef4 A G 1: 34,761,458 (GRCm39) K238R unknown Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atp2a1 G A 7: 126,046,844 (GRCm39) A847V possibly damaging Het
BC051076 A T 5: 88,111,844 (GRCm39) noncoding transcript Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Cd302 T A 2: 60,082,767 (GRCm39) I186F possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cep112 T A 11: 108,410,087 (GRCm39) probably null Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Col4a1 T A 8: 11,260,792 (GRCm39) D1330V probably damaging Het
Ctsa T G 2: 164,676,822 (GRCm39) M136R probably null Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Gcc2 T A 10: 58,121,779 (GRCm39) S1102T probably benign Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gna14 G C 19: 16,585,505 (GRCm39) probably benign Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gulo A G 14: 66,228,608 (GRCm39) V270A possibly damaging Het
Hps5 T A 7: 46,417,475 (GRCm39) D904V probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Jak3 A T 8: 72,138,027 (GRCm39) probably null Het
Klhl6 T G 16: 19,801,681 (GRCm39) T25P probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Map3k21 A G 8: 126,665,461 (GRCm39) K550R probably benign Het
Mphosph10 T A 7: 64,026,499 (GRCm39) L650F probably damaging Het
Mrpl48 T C 7: 100,198,540 (GRCm39) E204G probably damaging Het
Msh5 A C 17: 35,248,732 (GRCm39) V738G probably damaging Het
Mybph G A 1: 134,127,857 (GRCm39) C473Y probably damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Notch3 T C 17: 32,362,618 (GRCm39) T1336A probably benign Het
Nsun4 T C 4: 115,910,877 (GRCm39) probably null Het
Or1e30 A G 11: 73,678,100 (GRCm39) N112S probably benign Het
Or5m10 A T 2: 85,717,296 (GRCm39) T51S possibly damaging Het
Osgin1 A G 8: 120,172,412 (GRCm39) D402G possibly damaging Het
Patl1 A G 19: 11,909,511 (GRCm39) E479G possibly damaging Het
Pbsn T C X: 76,891,582 (GRCm39) K72E probably damaging Het
Pcdhb13 A G 18: 37,577,620 (GRCm39) Q666R possibly damaging Het
Pi4k2b G A 5: 52,908,022 (GRCm39) V131I probably benign Het
Pkn2 G A 3: 142,559,232 (GRCm39) H98Y possibly damaging Het
Pms1 A G 1: 53,314,327 (GRCm39) Y73H probably benign Het
Ppt2 A T 17: 34,841,818 (GRCm39) probably benign Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prl6a1 T C 13: 27,503,081 (GRCm39) Y231H probably benign Het
Ranbp3l T A 15: 9,029,641 (GRCm39) V41D probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Ripk4 A T 16: 97,545,342 (GRCm39) L372* probably null Het
Rnf126 A G 10: 79,594,971 (GRCm39) probably benign Het
S100pbp A G 4: 129,075,893 (GRCm39) V144A probably benign Het
Saal1 T C 7: 46,348,880 (GRCm39) Q317R probably damaging Het
Sap25 G A 5: 137,641,034 (GRCm39) G277R probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Set A G 2: 29,959,048 (GRCm39) K70E possibly damaging Het
Setd3 A G 12: 108,073,600 (GRCm39) I559T probably benign Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Skint3 A T 4: 112,112,980 (GRCm39) K197* probably null Het
Skint5 T A 4: 113,727,897 (GRCm39) I402F possibly damaging Het
Slc18a1 G A 8: 69,496,613 (GRCm39) T350M probably damaging Het
Slc19a3 A T 1: 82,992,512 (GRCm39) I403K probably damaging Het
Slc1a7 C T 4: 107,861,636 (GRCm39) T225I probably benign Het
Slc38a4 T C 15: 96,906,606 (GRCm39) I336V probably benign Het
Smarcc1 A G 9: 109,947,411 (GRCm39) probably benign Het
St8sia5 A T 18: 77,342,459 (GRCm39) I390F probably damaging Het
Strc A T 2: 121,209,368 (GRCm39) W290R probably damaging Het
Svep1 T C 4: 58,084,554 (GRCm39) D1858G possibly damaging Het
Sympk G A 7: 18,777,454 (GRCm39) R568Q probably damaging Het
Tex44 A C 1: 86,354,728 (GRCm39) K212N probably damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thrap3 C T 4: 126,073,967 (GRCm39) V260I probably damaging Het
Thsd7a A T 6: 12,318,105 (GRCm39) probably benign Het
Trim12c A G 7: 103,997,398 (GRCm39) F53L possibly damaging Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ubap2l A T 3: 89,938,683 (GRCm39) probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Usp17la A C 7: 104,510,378 (GRCm39) T328P probably damaging Het
Vmn2r113 T A 17: 23,177,223 (GRCm39) L669* probably null Het
Vps13b T A 15: 35,841,593 (GRCm39) V2541E probably damaging Het
Wnt3 T C 11: 103,703,111 (GRCm39) I198T probably damaging Het
Zfp316 T C 5: 143,249,161 (GRCm39) E158G unknown Het
Zfp362 T G 4: 128,680,780 (GRCm39) I182L possibly damaging Het
Zfp804a A G 2: 82,087,710 (GRCm39) D513G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K probably benign Het
Zfp97 T A 17: 17,365,018 (GRCm39) N172K possibly damaging Het
Zmym6 A T 4: 126,982,208 (GRCm39) K82* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGGATATGGCCAAAGGGACTC -3'
(R):5'- TGGTCCTCAAATCGCTTCTG -3'

Sequencing Primer
(F):5'- GGACTCAGAAGATGACCCGC -3'
(R):5'- AAATCGCTTCTGCTTTTCTAACC -3'
Posted On 2014-09-17