Incidental Mutation 'R4772:Baz2b'
ID 367578
Institutional Source Beutler Lab
Gene Symbol Baz2b
Ensembl Gene ENSMUSG00000026987
Gene Name bromodomain adjacent to zinc finger domain, 2B
Synonyms D2Ertd794e, 5830435C13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R4772 (G1)
Quality Score 219
Status Validated
Chromosome 2
Chromosomal Location 59899363-60209839 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59958451 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 697 (R697S)
Ref Sequence ENSEMBL: ENSMUSP00000108169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090925] [ENSMUST00000112550]
AlphaFold A2AUY4
Predicted Effect probably damaging
Transcript: ENSMUST00000090925
AA Change: R697S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: R697S

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 damaging
Transcript: ENSMUST00000112550
AA Change: R697S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: R697S

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 noncoding transcript
Transcript: ENSMUST00000135722
Meta Mutation Damage Score 0.3104 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 95% (74/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,315,339 (GRCm38) probably null Het
Adamts19 A G 18: 58,837,776 (GRCm38) Q144R possibly damaging Het
Adgrb3 C A 1: 25,531,875 (GRCm38) C507F probably damaging Het
Atg9b T C 5: 24,385,239 (GRCm38) *923W probably null Het
Atp13a4 T C 16: 29,420,835 (GRCm38) probably benign Het
Bicdl1 A G 5: 115,661,478 (GRCm38) I184T probably benign Het
Bpifb4 C T 2: 153,942,983 (GRCm38) L204F possibly damaging Het
Cep120 C T 18: 53,718,489 (GRCm38) R577Q probably damaging Het
Cplx4 T C 18: 65,969,977 (GRCm38) E24G possibly damaging Het
Dcxr T C 11: 120,726,097 (GRCm38) T147A probably benign Het
Dnajc10 C A 2: 80,340,526 (GRCm38) H454N probably damaging Het
Dsp G T 13: 38,167,528 (GRCm38) G108* probably null Het
Entpd6 T A 2: 150,767,094 (GRCm38) I366K probably damaging Het
Fam111a A G 19: 12,587,693 (GRCm38) K269E probably benign Het
Grid2ip T G 5: 143,375,700 (GRCm38) V222G possibly damaging Het
Hmcn2 T G 2: 31,445,314 (GRCm38) V4421G probably benign Het
Ifi207 T C 1: 173,727,687 (GRCm38) T817A probably damaging Het
Irak2 A T 6: 113,693,722 (GRCm38) E533V probably damaging Het
Katnip A G 7: 125,865,351 (GRCm38) S1297G probably damaging Het
Kbtbd6 T C 14: 79,452,156 (GRCm38) F97S probably damaging Het
Kctd14 A T 7: 97,457,676 (GRCm38) E99V probably damaging Het
Klhl10 A T 11: 100,447,731 (GRCm38) Y432F probably benign Het
Lrrc49 T C 9: 60,685,052 (GRCm38) N53S possibly damaging Het
Mief2 T A 11: 60,730,462 (GRCm38) probably benign Het
Mog A T 17: 37,023,157 (GRCm38) S15T unknown Het
Mpi T C 9: 57,544,898 (GRCm38) D365G probably damaging Het
Mpp7 A G 18: 7,379,983 (GRCm38) probably null Het
Nes A G 3: 87,976,179 (GRCm38) T582A probably benign Het
Nlrp14 A G 7: 107,181,186 (GRCm38) D5G probably benign Het
Nr1i3 C T 1: 171,217,150 (GRCm38) T218I probably damaging Het
Nup43 C T 10: 7,678,669 (GRCm38) R339* probably null Het
Nup58 T A 14: 60,220,022 (GRCm38) R577S probably benign Het
Olfr908 C T 9: 38,516,601 (GRCm38) probably benign Het
Or4l15 AAATTTGAA AAA 14: 49,960,995 (GRCm38) probably benign Het
Or52n4b T A 7: 108,544,885 (GRCm38) M120K probably damaging Het
Or5d35 T A 2: 88,024,863 (GRCm38) I47K probably damaging Het
Or6c38 A T 10: 129,093,668 (GRCm38) V102D possibly damaging Het
Or9g20 G A 2: 85,799,994 (GRCm38) S92F probably damaging Het
Orc1 T C 4: 108,579,568 (GRCm38) probably benign Het
Pax6 C A 2: 105,696,502 (GRCm38) P251Q probably benign Het
Phactr3 C T 2: 178,283,936 (GRCm38) R330W probably damaging Het
Phldb1 G A 9: 44,711,027 (GRCm38) R81W probably damaging Het
Pip5k1c C T 10: 81,315,940 (GRCm38) P656L probably benign Het
Pkn3 T G 2: 30,084,680 (GRCm38) probably null Het
Plcb2 T A 2: 118,713,134 (GRCm38) H752L probably benign Het
Plch1 G A 3: 63,753,325 (GRCm38) T291M probably damaging Het
Plekhg1 A T 10: 3,873,127 (GRCm38) M32L probably benign Het
Plekhg1 A T 10: 3,873,130 (GRCm38) T33S probably damaging Het
Plk4 A G 3: 40,805,190 (GRCm38) T174A probably damaging Het
Ppip5k2 C A 1: 97,721,067 (GRCm38) probably benign Het
Prl2a1 G A 13: 27,804,978 (GRCm38) V29M probably benign Het
R3hcc1l T C 19: 42,583,557 (GRCm38) probably benign Het
Rasa3 C T 8: 13,598,289 (GRCm38) G125D probably damaging Het
Sema3f A T 9: 107,689,720 (GRCm38) Y136* probably null Het
Slc13a5 T A 11: 72,250,846 (GRCm38) probably null Het
Slc16a1 T C 3: 104,653,564 (GRCm38) V395A possibly damaging Het
Sparcl1 C T 5: 104,088,490 (GRCm38) A466T probably benign Het
Srrm1 G A 4: 135,342,379 (GRCm38) probably benign Het
Styxl1 G A 5: 135,768,901 (GRCm38) R50* probably null Het
Tex264 T A 9: 106,673,702 (GRCm38) I99F possibly damaging Het
Tgtp2 T C 11: 49,058,984 (GRCm38) T254A probably damaging Het
Tmem245 A C 4: 56,937,989 (GRCm38) probably null Het
Tnik A T 3: 28,607,210 (GRCm38) T587S probably benign Het
Tpr T G 1: 150,413,113 (GRCm38) S648A possibly damaging Het
Ttn T C 2: 76,765,969 (GRCm38) E18454G probably damaging Het
Utp20 A C 10: 88,809,935 (GRCm38) H527Q probably benign Het
Vmn1r1 A T 1: 182,157,546 (GRCm38) S185T probably benign Het
Vps54 C T 11: 21,312,952 (GRCm38) H680Y probably damaging Het
Vwa5b2 A G 16: 20,600,803 (GRCm38) probably null Het
Wscd1 T C 11: 71,771,976 (GRCm38) probably null Het
Zbtb41 C T 1: 139,447,414 (GRCm38) P871S probably damaging Het
Zcchc4 T C 5: 52,796,207 (GRCm38) L186P possibly damaging Het
Zdhhc13 A G 7: 48,799,873 (GRCm38) Y73C probably benign Het
Zfp12 A G 5: 143,240,000 (GRCm38) E21G probably damaging 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
R0136:Baz2b UTSW 2 59,901,954 (GRCm38) missense probably benign 0.22
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
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'- TCTCTGAACCCTGCATCAAC -3'
(R):5'- GTGTCTGTCATAGGCCAGAAG -3'

Sequencing Primer
(F):5'- TGAACCCTGCATCAACTTCATC -3'
(R):5'- ACGTATCTTATGTAGTATGCTCAGC -3'
Posted On 2015-12-29