Incidental Mutation 'R8511:Baz2b'
ID 655844
Institutional Source Beutler Lab
Gene Symbol Baz2b
Ensembl Gene ENSMUSG00000026987
Gene Name bromodomain adjacent to zinc finger domain, 2B
Synonyms D2Ertd794e, 5830435C13Rik
MMRRC Submission 067888-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R8511 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 59899363-60209839 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59901814 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1996 (T1996S)
Ref Sequence ENSEMBL: ENSMUSP00000088443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090925] [ENSMUST00000112550]
AlphaFold A2AUY4
Predicted Effect probably benign
Transcript: ENSMUST00000090925
AA Change: T1996S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088443
Gene: ENSMUSG00000026987
AA Change: T1996S

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: T1996S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108169
Gene: ENSMUSG00000026987
AA Change: T1996S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T C 11: 11,590,056 H186R unknown Het
4931409K22Rik T A 5: 24,545,908 H559L possibly damaging Het
6430548M08Rik A G 8: 120,152,562 N233S probably benign Het
Acan A G 7: 79,097,935 D818G possibly damaging Het
Adam22 G A 5: 8,134,558 T478I probably damaging Het
Agmo T A 12: 37,244,397 *115R probably null Het
Ahnak A G 19: 9,012,355 K3668E unknown Het
Aldh6a1 G A 12: 84,433,971 T430I possibly damaging Het
Ankrd11 T C 8: 122,899,729 D17G Het
Apol10b T C 15: 77,585,011 E322G probably benign Het
Apol10b C G 15: 77,585,010 E322D probably benign Het
Apol8 C T 15: 77,750,073 G101E probably benign Het
Arhgef26 A T 3: 62,428,929 M630L probably damaging Het
Aspm T C 1: 139,457,308 L230P probably damaging Het
Atg101 T C 15: 101,290,622 S203P probably damaging Het
Brwd1 A T 16: 96,058,738 M350K probably damaging Het
Cad A G 5: 31,075,821 K1869R probably benign Het
Caskin1 A T 17: 24,505,936 I1233F probably benign Het
Ckap5 T A 2: 91,615,147 L1770I possibly damaging Het
Clip1 T C 5: 123,653,906 N67S possibly damaging Het
Csmd2 A G 4: 128,368,899 N626S Het
Cuedc2 C A 19: 46,330,919 probably null Het
Dmbt1 A T 7: 131,102,012 N1275Y unknown Het
Dnm3 A G 1: 162,286,042 V483A possibly damaging Het
Dock9 T C 14: 121,681,435 D50G probably damaging Het
Dock9 A T 14: 121,627,389 H718Q probably benign Het
Egfr T G 11: 16,896,949 I782S probably damaging Het
Elmod1 A T 9: 53,912,811 F298I probably damaging Het
Enthd1 T C 15: 80,474,227 Q364R probably damaging Het
Fat2 T A 11: 55,309,237 S1004C probably damaging Het
Fga A T 3: 83,031,757 K480* probably null Het
Fhod3 A G 18: 25,132,937 T1561A probably damaging Het
Foxg1 T A 12: 49,385,085 Y200* probably null Het
Foxj2 C T 6: 122,831,445 R115* probably null Het
Ggnbp2 C T 11: 84,837,989 probably null Het
Gm15922 A G 7: 3,739,348 L60P probably damaging Het
Gpsm2 A G 3: 108,682,083 S580P probably benign Het
Hectd1 A G 12: 51,787,871 S870P probably benign Het
Hic2 T A 16: 17,258,010 N234K possibly damaging Het
Ica1 A G 6: 8,754,726 F15L probably benign Het
Immp1l G A 2: 105,930,755 R3H probably benign Het
Jak3 T A 8: 71,685,550 Y882N probably damaging Het
Klk1b1 C T 7: 43,970,343 R109C possibly damaging Het
Luzp1 A G 4: 136,541,339 D291G probably damaging Het
Map3k19 C T 1: 127,847,418 E61K possibly damaging Het
Mical3 A G 6: 121,038,552 I175T possibly damaging Het
Nectin3 G A 16: 46,464,000 P107L probably damaging Het
Olfr975 A G 9: 39,950,159 V204A probably benign Het
Polr1a C A 6: 71,920,520 H207N probably benign Het
Prokr2 A G 2: 132,381,502 V40A probably benign Het
Prtg T C 9: 72,890,874 probably null Het
Ptprs G A 17: 56,447,440 T200I probably damaging Het
Ramp3 C T 11: 6,676,709 R139C probably benign Het
Scfd2 A G 5: 74,212,288 V642A possibly damaging Het
Scn11a T C 9: 119,789,915 K787R probably damaging Het
Slco3a1 A G 7: 74,303,242 V523A probably benign Het
Smo A G 6: 29,755,532 Y401C probably damaging Het
Spata5 A G 3: 37,436,748 M481V probably damaging Het
Stmn2 A G 3: 8,509,555 probably benign Het
Stra6l G T 4: 45,885,347 G605V probably benign Het
Syne2 A G 12: 76,008,873 I4170V probably benign Het
Tgm7 T A 2: 121,093,660 I594F probably damaging Het
Tle2 T C 10: 81,587,996 L648P probably damaging Het
Tmprss2 G T 16: 97,568,462 L371I possibly damaging Het
Ttn T C 2: 76,749,522 R23676G probably damaging Het
Tvp23b T C 11: 62,883,737 I69T possibly damaging Het
Vmn2r66 A T 7: 85,006,818 I330N probably damaging Het
Vmn2r99 A T 17: 19,394,181 D721V probably damaging Het
Zan A T 5: 137,446,846 V1717E unknown Het
Zmiz2 C T 11: 6,403,190 H658Y 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
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
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'- AATCGGTACCTAGACCTTGGAACG -3'
(R):5'- GCAGCCGCTTTCTTATACAC -3'

Sequencing Primer
(F):5'- TAGACCTTGGAACGGCCCAAAG -3'
(R):5'- CTTTTTAATTAAAGGCAAGCGGC -3'
Posted On 2020-10-20