Incidental Mutation 'R0136:Baz2b'
ID 21928
Institutional Source Beutler Lab
Gene Symbol Baz2b
Ensembl Gene ENSMUSG00000026987
Gene Name bromodomain adjacent to zinc finger domain, 2B
Synonyms D2Ertd794e, 5830435C13Rik
MMRRC Submission 038421-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R0136 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 59899363-60209839 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59901954 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1949 (V1949A)
Ref Sequence ENSEMBL: ENSMUSP00000108169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090925] [ENSMUST00000112550]
AlphaFold A2AUY4
Predicted Effect probably benign
Transcript: ENSMUST00000090925
AA Change: V1949A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: V1949A

DomainStartEndE-ValueType
low complexity region 7 46 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
low complexity region 147 162 N/A INTRINSIC
low complexity region 193 244 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
low complexity region 366 385 N/A INTRINSIC
low complexity region 528 540 N/A INTRINSIC
low complexity region 554 614 N/A INTRINSIC
low complexity region 628 637 N/A INTRINSIC
low complexity region 671 685 N/A INTRINSIC
Pfam:MBD 690 742 1e-12 PFAM
low complexity region 759 774 N/A INTRINSIC
coiled coil region 814 975 N/A INTRINSIC
DDT 1004 1069 1.19e-20 SMART
low complexity region 1199 1212 N/A INTRINSIC
low complexity region 1213 1247 N/A INTRINSIC
coiled coil region 1251 1286 N/A INTRINSIC
low complexity region 1320 1337 N/A INTRINSIC
low complexity region 1503 1524 N/A INTRINSIC
low complexity region 1569 1582 N/A INTRINSIC
low complexity region 1585 1605 N/A INTRINSIC
Blast:BROMO 1802 1843 7e-18 BLAST
PHD 1888 1934 1.71e-12 SMART
low complexity region 1942 1964 N/A INTRINSIC
low complexity region 1968 1980 N/A INTRINSIC
BROMO 2013 2121 3.85e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112550
AA Change: V1949A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: V1949A

DomainStartEndE-ValueType
low complexity region 7 46 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
low complexity region 147 162 N/A INTRINSIC
low complexity region 193 244 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
low complexity region 366 385 N/A INTRINSIC
low complexity region 528 540 N/A INTRINSIC
low complexity region 554 614 N/A INTRINSIC
low complexity region 628 637 N/A INTRINSIC
low complexity region 671 685 N/A INTRINSIC
Pfam:MBD 690 741 3.4e-13 PFAM
low complexity region 759 774 N/A INTRINSIC
coiled coil region 814 975 N/A INTRINSIC
DDT 1004 1069 1.19e-20 SMART
low complexity region 1199 1212 N/A INTRINSIC
low complexity region 1213 1247 N/A INTRINSIC
coiled coil region 1251 1286 N/A INTRINSIC
low complexity region 1320 1337 N/A INTRINSIC
low complexity region 1503 1524 N/A INTRINSIC
low complexity region 1569 1582 N/A INTRINSIC
low complexity region 1585 1605 N/A INTRINSIC
Pfam:WHIM3 1638 1676 5.1e-14 PFAM
Blast:BROMO 1802 1843 7e-18 BLAST
PHD 1888 1934 1.71e-12 SMART
low complexity region 1942 1964 N/A INTRINSIC
low complexity region 1968 1980 N/A INTRINSIC
BROMO 2013 2121 3.85e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130637
SMART Domains Protein: ENSMUSP00000119690
Gene: ENSMUSG00000026987

DomainStartEndE-ValueType
Pfam:WHIM3 2 37 1.8e-13 PFAM
low complexity region 162 173 N/A INTRINSIC
PHD 214 253 2.05e-1 SMART
Meta Mutation Damage Score 0.0834 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 89% (56/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4b1 T C 3: 103,809,946 (GRCm38) M1T probably null Het
Arg2 T C 12: 79,150,006 (GRCm38) L167P probably damaging Het
Atxn1 A G 13: 45,567,169 (GRCm38) S417P probably damaging Het
Bcl3 A G 7: 19,809,569 (GRCm38) V324A probably damaging Het
Btbd10 A T 7: 113,329,878 (GRCm38) S230T possibly damaging Het
Camta1 A G 4: 151,078,969 (GRCm38) S1479P probably damaging Het
Cd69 C T 6: 129,270,062 (GRCm38) S64N probably benign Het
Col5a1 T C 2: 28,024,831 (GRCm38) L153P probably damaging Het
Crat C A 2: 30,407,030 (GRCm38) V304L probably benign Het
Csmd3 T C 15: 47,847,131 (GRCm38) T1687A probably benign Het
Dnah1 C T 14: 31,276,158 (GRCm38) G2574D probably damaging Het
Fau T C 19: 6,059,180 (GRCm38) V86A possibly damaging Het
Garem1 T G 18: 21,129,991 (GRCm38) S589R probably damaging Het
Gbp3 T G 3: 142,564,101 (GRCm38) probably null Het
Gin1 T A 1: 97,783,016 (GRCm38) S141R possibly damaging Het
Gtf2h1 A T 7: 46,815,416 (GRCm38) Q419L possibly damaging Het
Hipk3 A G 2: 104,439,293 (GRCm38) I517T probably benign Het
Hivep2 T C 10: 14,131,878 (GRCm38) S1407P probably benign Het
Hnrnpk G T 13: 58,395,177 (GRCm38) D211E probably benign Het
Hnrnpul2 T C 19: 8,826,801 (GRCm38) L588P probably damaging Het
Il18rap A T 1: 40,525,058 (GRCm38) H112L probably benign Het
Itgb1 T G 8: 128,722,854 (GRCm38) Y585D possibly damaging Het
Kmt2d C T 15: 98,854,278 (GRCm38) probably benign Het
Map7d1 A T 4: 126,236,631 (GRCm38) probably null Het
Me2 A G 18: 73,770,673 (GRCm38) S575P probably benign Het
Med13l A G 5: 118,724,050 (GRCm38) T353A probably benign Het
Mgat4b T C 11: 50,231,081 (GRCm38) V143A possibly damaging Het
Mlxip T A 5: 123,442,306 (GRCm38) W211R probably damaging Het
Morc2a T G 11: 3,685,907 (GRCm38) probably null Het
Muc4 A T 16: 32,750,195 (GRCm38) probably benign Het
Ndufa10 A T 1: 92,463,128 (GRCm38) Y233* probably null Het
Nek8 C T 11: 78,171,207 (GRCm38) S237N probably benign Het
Neto1 G A 18: 86,461,320 (GRCm38) R211Q probably benign Het
Nfatc2ip A G 7: 126,391,335 (GRCm38) S165P probably benign Het
Nsd2 A G 5: 33,855,536 (GRCm38) K404E possibly damaging Het
Nsd3 G T 8: 25,659,854 (GRCm38) E352* probably null Het
Nudt9 A G 5: 104,047,106 (GRCm38) T23A probably benign Het
Olfr394 T C 11: 73,887,785 (GRCm38) M196V probably benign Het
Olfr394 C T 11: 73,887,830 (GRCm38) V181I probably benign Het
Olfr983 A G 9: 40,092,019 (GRCm38) *312Q probably null Het
Patj C A 4: 98,667,648 (GRCm38) Q297K probably damaging Het
Pelo A T 13: 115,088,903 (GRCm38) C40* probably null Het
Pnpla3 G A 15: 84,174,478 (GRCm38) probably null Het
Pramel1 C A 4: 143,397,446 (GRCm38) N230K probably damaging Het
Psg20 A C 7: 18,682,507 (GRCm38) L228R probably damaging Het
Rsph10b T C 5: 143,959,821 (GRCm38) F44L probably benign Het
Sept2 G A 1: 93,507,050 (GRCm38) G358R possibly damaging Het
Slamf7 G A 1: 171,648,931 (GRCm38) probably benign Het
Slc12a8 A G 16: 33,608,213 (GRCm38) D297G probably damaging Het
Slc17a5 G A 9: 78,578,674 (GRCm38) A43V probably damaging Het
Slc22a1 A T 17: 12,662,596 (GRCm38) F335L probably benign Het
Slc26a5 T C 5: 21,834,347 (GRCm38) N216S probably damaging Het
Snrnp27 T C 6: 86,676,205 (GRCm38) S144G probably benign Het
Spata20 T A 11: 94,480,609 (GRCm38) D643V probably damaging Het
Spata24 T C 18: 35,660,462 (GRCm38) K99R probably damaging Het
Taar5 A G 10: 23,971,709 (GRCm38) Y335C probably damaging Het
Tpr A G 1: 150,430,595 (GRCm38) H1540R probably benign Het
Vmn1r27 A G 6: 58,215,719 (GRCm38) F100S possibly damaging Het
Vmn2r37 A T 7: 9,217,783 (GRCm38) Y360* probably null Het
Ybx1 C A 4: 119,282,354 (GRCm38) R36L possibly damaging Het
Zfp369 A G 13: 65,297,202 (GRCm38) K720E probably benign Het
Zfp599 A G 9: 22,249,742 (GRCm38) S376P probably benign Het
Zic2 A G 14: 122,476,541 (GRCm38) E289G probably damaging Het
Zzef1 T C 11: 72,821,851 (GRCm38) V199A probably benign Het
Other mutations in Baz2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Baz2b APN 2 59,912,795 (GRCm38) missense probably benign 0.02
IGL00476:Baz2b APN 2 59,913,739 (GRCm38) missense probably benign 0.06
IGL00489:Baz2b APN 2 59,957,675 (GRCm38) nonsense probably null
IGL00514:Baz2b APN 2 59,962,477 (GRCm38) missense probably benign 0.11
IGL00678:Baz2b APN 2 60,006,183 (GRCm38) missense unknown
IGL01348:Baz2b APN 2 59,933,687 (GRCm38) missense possibly damaging 0.95
IGL01354:Baz2b APN 2 59,968,889 (GRCm38) missense probably benign 0.18
IGL01924:Baz2b APN 2 59,935,271 (GRCm38) missense probably damaging 1.00
IGL02125:Baz2b APN 2 59,968,640 (GRCm38) missense probably benign 0.12
IGL02314:Baz2b APN 2 59,962,227 (GRCm38) missense probably benign
IGL02370:Baz2b APN 2 59,923,589 (GRCm38) missense possibly damaging 0.77
IGL02473:Baz2b APN 2 59,960,063 (GRCm38) missense probably benign 0.40
IGL02499:Baz2b APN 2 59,901,496 (GRCm38) missense possibly damaging 0.60
IGL02609:Baz2b APN 2 59,917,369 (GRCm38) missense possibly damaging 0.77
IGL02705:Baz2b APN 2 59,948,260 (GRCm38) missense possibly damaging 0.92
IGL02711:Baz2b APN 2 59,917,505 (GRCm38) unclassified probably benign
IGL02716:Baz2b APN 2 59,962,524 (GRCm38) missense possibly damaging 0.53
IGL02724:Baz2b APN 2 59,977,374 (GRCm38) missense possibly damaging 0.70
IGL02750:Baz2b APN 2 59,968,658 (GRCm38) missense possibly damaging 0.73
IGL02869:Baz2b APN 2 59,977,528 (GRCm38) missense probably benign 0.00
IGL02886:Baz2b APN 2 59,957,743 (GRCm38) splice site probably null
IGL02892:Baz2b APN 2 59,900,736 (GRCm38) missense probably damaging 1.00
IGL03132:Baz2b APN 2 59,907,753 (GRCm38) splice site probably benign
IGL03183:Baz2b APN 2 59,903,296 (GRCm38) missense probably benign 0.10
IGL03197:Baz2b APN 2 59,901,554 (GRCm38) missense possibly damaging 0.74
R0054:Baz2b UTSW 2 59,932,166 (GRCm38) missense probably damaging 1.00
R0054:Baz2b UTSW 2 59,932,166 (GRCm38) missense probably damaging 1.00
R0122:Baz2b UTSW 2 59,913,619 (GRCm38) splice site probably null
R0144:Baz2b UTSW 2 59,907,495 (GRCm38) missense probably damaging 0.98
R0403:Baz2b UTSW 2 59,969,377 (GRCm38) missense possibly damaging 0.70
R0498:Baz2b UTSW 2 59,901,996 (GRCm38) unclassified probably benign
R0528:Baz2b UTSW 2 59,936,739 (GRCm38) missense probably damaging 1.00
R1025:Baz2b UTSW 2 59,962,482 (GRCm38) missense probably benign 0.06
R1470:Baz2b UTSW 2 59,978,546 (GRCm38) missense possibly damaging 0.53
R1470:Baz2b UTSW 2 59,978,546 (GRCm38) missense possibly damaging 0.53
R1510:Baz2b UTSW 2 59,922,209 (GRCm38) missense probably damaging 1.00
R1511:Baz2b UTSW 2 59,962,024 (GRCm38) missense probably benign 0.12
R1514:Baz2b UTSW 2 59,962,326 (GRCm38) missense probably benign 0.13
R1519:Baz2b UTSW 2 59,948,254 (GRCm38) missense possibly damaging 0.50
R1523:Baz2b UTSW 2 59,968,637 (GRCm38) missense possibly damaging 0.47
R1630:Baz2b UTSW 2 60,006,130 (GRCm38) missense unknown
R1641:Baz2b UTSW 2 59,912,890 (GRCm38) missense probably damaging 0.99
R1674:Baz2b UTSW 2 59,912,992 (GRCm38) missense possibly damaging 0.53
R1778:Baz2b UTSW 2 60,006,136 (GRCm38) missense unknown
R1826:Baz2b UTSW 2 59,968,733 (GRCm38) missense probably benign 0.12
R1835:Baz2b UTSW 2 59,901,819 (GRCm38) missense probably benign 0.02
R1954:Baz2b UTSW 2 59,968,743 (GRCm38) missense probably benign 0.12
R1981:Baz2b UTSW 2 59,923,680 (GRCm38) missense possibly damaging 0.95
R2029:Baz2b UTSW 2 59,912,723 (GRCm38) unclassified probably benign
R2567:Baz2b UTSW 2 59,913,911 (GRCm38) missense possibly damaging 0.82
R2842:Baz2b UTSW 2 59,913,004 (GRCm38) missense probably benign 0.27
R2848:Baz2b UTSW 2 59,924,666 (GRCm38) missense possibly damaging 0.64
R3809:Baz2b UTSW 2 59,968,896 (GRCm38) missense probably benign 0.12
R3935:Baz2b UTSW 2 59,912,761 (GRCm38) missense possibly damaging 0.81
R3936:Baz2b UTSW 2 59,912,761 (GRCm38) missense possibly damaging 0.81
R4072:Baz2b UTSW 2 59,912,573 (GRCm38) splice site probably null
R4182:Baz2b UTSW 2 60,098,457 (GRCm38) intron probably benign
R4255:Baz2b UTSW 2 59,920,572 (GRCm38) unclassified probably benign
R4359:Baz2b UTSW 2 59,901,613 (GRCm38) missense possibly damaging 0.87
R4716:Baz2b UTSW 2 59,969,255 (GRCm38) missense probably benign 0.06
R4743:Baz2b UTSW 2 59,913,911 (GRCm38) missense probably benign 0.01
R4772:Baz2b UTSW 2 59,958,451 (GRCm38) missense probably damaging 0.96
R4858:Baz2b UTSW 2 59,907,743 (GRCm38) missense probably benign
R4868:Baz2b UTSW 2 59,924,882 (GRCm38) missense possibly damaging 0.65
R4872:Baz2b UTSW 2 59,942,759 (GRCm38) splice site probably null
R4889:Baz2b UTSW 2 59,936,726 (GRCm38) missense probably damaging 1.00
R4890:Baz2b UTSW 2 59,926,039 (GRCm38) missense probably damaging 0.99
R4914:Baz2b UTSW 2 59,914,043 (GRCm38) missense possibly damaging 0.70
R4915:Baz2b UTSW 2 59,914,043 (GRCm38) missense possibly damaging 0.70
R4918:Baz2b UTSW 2 59,914,043 (GRCm38) missense possibly damaging 0.70
R5027:Baz2b UTSW 2 60,098,644 (GRCm38) intron probably benign
R5031:Baz2b UTSW 2 59,912,807 (GRCm38) missense probably benign 0.00
R5082:Baz2b UTSW 2 59,901,491 (GRCm38) nonsense probably null
R5133:Baz2b UTSW 2 59,962,024 (GRCm38) missense probably benign 0.12
R5276:Baz2b UTSW 2 59,962,614 (GRCm38) missense probably benign 0.40
R5279:Baz2b UTSW 2 59,932,152 (GRCm38) missense probably damaging 1.00
R5294:Baz2b UTSW 2 59,978,602 (GRCm38) missense probably benign 0.11
R5447:Baz2b UTSW 2 59,913,988 (GRCm38) missense probably damaging 0.99
R5903:Baz2b UTSW 2 59,959,889 (GRCm38) missense probably damaging 0.99
R5910:Baz2b UTSW 2 59,977,426 (GRCm38) missense possibly damaging 0.88
R6140:Baz2b UTSW 2 59,912,527 (GRCm38) missense probably damaging 0.99
R6195:Baz2b UTSW 2 59,907,511 (GRCm38) missense possibly damaging 0.89
R6199:Baz2b UTSW 2 59,978,675 (GRCm38) missense probably benign 0.00
R6208:Baz2b UTSW 2 59,924,806 (GRCm38) missense probably damaging 1.00
R6233:Baz2b UTSW 2 59,907,511 (GRCm38) missense possibly damaging 0.89
R6276:Baz2b UTSW 2 59,948,223 (GRCm38) missense probably damaging 1.00
R6324:Baz2b UTSW 2 59,906,948 (GRCm38) missense probably damaging 1.00
R6490:Baz2b UTSW 2 59,901,729 (GRCm38) missense probably damaging 1.00
R6578:Baz2b UTSW 2 59,969,279 (GRCm38) missense possibly damaging 0.47
R6720:Baz2b UTSW 2 59,924,890 (GRCm38) missense probably damaging 1.00
R6760:Baz2b UTSW 2 59,962,432 (GRCm38) missense probably benign 0.40
R6836:Baz2b UTSW 2 59,917,425 (GRCm38) missense probably damaging 1.00
R6859:Baz2b UTSW 2 59,901,530 (GRCm38) missense probably benign 0.01
R6880:Baz2b UTSW 2 59,912,939 (GRCm38) missense probably damaging 0.99
R6916:Baz2b UTSW 2 59,968,776 (GRCm38) missense probably benign
R6978:Baz2b UTSW 2 59,907,715 (GRCm38) missense possibly damaging 0.84
R7037:Baz2b UTSW 2 59,933,670 (GRCm38) critical splice donor site probably null
R7112:Baz2b UTSW 2 59,962,184 (GRCm38) missense possibly damaging 0.53
R7117:Baz2b UTSW 2 59,912,497 (GRCm38) missense
R7198:Baz2b UTSW 2 59,962,206 (GRCm38) missense probably benign 0.00
R7270:Baz2b UTSW 2 59,962,492 (GRCm38) missense possibly damaging 0.96
R7282:Baz2b UTSW 2 59,920,437 (GRCm38) missense probably benign 0.17
R7464:Baz2b UTSW 2 59,977,448 (GRCm38) missense possibly damaging 0.53
R7609:Baz2b UTSW 2 59,962,473 (GRCm38) missense probably benign 0.40
R7703:Baz2b UTSW 2 59,917,425 (GRCm38) missense probably damaging 1.00
R7850:Baz2b UTSW 2 59,936,716 (GRCm38) missense probably damaging 0.98
R7851:Baz2b UTSW 2 59,936,716 (GRCm38) missense probably damaging 0.98
R7988:Baz2b UTSW 2 59,962,141 (GRCm38) missense possibly damaging 0.53
R8079:Baz2b UTSW 2 59,900,768 (GRCm38) missense probably damaging 1.00
R8084:Baz2b UTSW 2 59,962,236 (GRCm38) missense probably benign
R8343:Baz2b UTSW 2 59,901,514 (GRCm38) missense probably damaging 1.00
R8348:Baz2b UTSW 2 59,911,793 (GRCm38) missense
R8438:Baz2b UTSW 2 59,917,484 (GRCm38) nonsense probably null
R8448:Baz2b UTSW 2 59,911,793 (GRCm38) missense
R8511:Baz2b UTSW 2 59,901,814 (GRCm38) missense probably benign
R8893:Baz2b UTSW 2 59,924,805 (GRCm38) missense probably damaging 0.96
R8947:Baz2b UTSW 2 59,948,239 (GRCm38) missense probably benign 0.06
R8998:Baz2b UTSW 2 59,969,264 (GRCm38) missense probably benign 0.02
R9241:Baz2b UTSW 2 59,913,649 (GRCm38) missense probably benign 0.01
R9245:Baz2b UTSW 2 59,912,987 (GRCm38) missense probably benign
R9577:Baz2b UTSW 2 59,978,687 (GRCm38) missense probably benign 0.06
R9581:Baz2b UTSW 2 59,968,956 (GRCm38) missense probably benign
R9601:Baz2b UTSW 2 59,901,503 (GRCm38) missense possibly damaging 0.66
R9613:Baz2b UTSW 2 59,901,480 (GRCm38) missense probably benign 0.09
R9639:Baz2b UTSW 2 59,901,484 (GRCm38) missense probably benign 0.01
X0011:Baz2b UTSW 2 59,977,361 (GRCm38) missense possibly damaging 0.53
X0053:Baz2b UTSW 2 59,900,675 (GRCm38) missense probably damaging 1.00
X0064:Baz2b UTSW 2 59,969,282 (GRCm38) missense probably benign
Z1088:Baz2b UTSW 2 59,960,015 (GRCm38) missense probably damaging 1.00
Z1177:Baz2b UTSW 2 59,977,520 (GRCm38) missense probably benign 0.01
Z1188:Baz2b UTSW 2 59,977,405 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGGGTACGAGTTTCAAGTTCACAGG -3'
(R):5'- AGTTCTAACTGCCAAAGGTGCAGC -3'

Sequencing Primer
(F):5'- GTACCTAGACCTTGGAACGG -3'
(R):5'- CGTCTATTACAGGAGAGATTCCCAG -3'
Posted On 2013-04-12