Incidental Mutation 'IGL02296:Cbfb'
ID 290186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbfb
Ensembl Gene ENSMUSG00000031885
Gene Name core binding factor beta
Synonyms Pebpb2, PEA2, PEBP2b, Pebp2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02296
Quality Score
Status
Chromosome 8
Chromosomal Location 105897306-105944621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105905312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 85 (Y85N)
Ref Sequence ENSEMBL: ENSMUSP00000105022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052209] [ENSMUST00000109392] [ENSMUST00000109394] [ENSMUST00000109395]
AlphaFold Q08024
PDB Structure NMR STRUCTURE OF APO CBFB [SOLUTION NMR]
CRYSTAL STRUCTURE OF RUNX-1/AML1/CBFALPHA RUNT DOMAIN-CBFBETA CORE DOMAIN HETERODIMER AND C/EBPBETA BZIP HOMODIMER BOUND TO A DNA FRAGMENT FROM THE CSF-1R PROMOTER [X-RAY DIFFRACTION]
CORE BINDING FACTOR BETA [SOLUTION NMR]
Crystal structure of the complex comprised of ETS1, RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of phosphorylated ETS1, RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of ETS1 (V170A), RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of ETS1(V170G), RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of ETS1(K167A), RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of ETS1(Y329A), RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Crystal structure of the complex comprised of ETS1(G333P), RUNX1, CBFBETA, and the tcralpha gene enhancer DNA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000052209
AA Change: Y85N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059382
Gene: ENSMUSG00000031885
AA Change: Y85N

DomainStartEndE-ValueType
Pfam:CBF_beta 1 168 8.4e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109392
AA Change: Y85N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105019
Gene: ENSMUSG00000031885
AA Change: Y85N

DomainStartEndE-ValueType
Pfam:CBF_beta 1 177 7.9e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109394
SMART Domains Protein: ENSMUSP00000105021
Gene: ENSMUSG00000031885

DomainStartEndE-ValueType
Pfam:CBF_beta 1 59 2.7e-32 PFAM
Pfam:CBF_beta 53 139 1.5e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109395
AA Change: Y85N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105022
Gene: ENSMUSG00000031885
AA Change: Y85N

DomainStartEndE-ValueType
Pfam:CBF_beta 1 141 4.3e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190915
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutant embryos exhibit massive CNS hemorrhaging, impaired definitive hematopoiesis, and death around E12.5. Homozygotes for a hypoplastic mutation are born at normal ratios but die soon after birth. Delayed skeletal development leaves bones poorly ossified and hypoplastic at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,808,344 (GRCm39) R7S unknown Het
Acss3 A T 10: 106,889,312 (GRCm39) Y169* probably null Het
Anln T C 9: 22,283,483 (GRCm39) K450R possibly damaging Het
Armc10 A T 5: 21,865,631 (GRCm39) R225S probably benign Het
Col13a1 G T 10: 61,697,804 (GRCm39) probably benign Het
Dclk2 T C 3: 86,700,600 (GRCm39) I626V probably damaging Het
Epb41 G A 4: 131,731,065 (GRCm39) T172M probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Glyat A T 19: 12,628,625 (GRCm39) D140V probably damaging Het
Hikeshi A T 7: 89,585,130 (GRCm39) F25I probably damaging Het
Ifi204 A G 1: 173,576,880 (GRCm39) Y574H possibly damaging Het
Kcnd3 C T 3: 105,574,317 (GRCm39) R501* probably null Het
Kdm4a T C 4: 118,034,662 (GRCm39) E23G probably damaging Het
Map3k19 C T 1: 127,751,983 (GRCm39) S456N probably damaging Het
Mgat4c A G 10: 102,221,021 (GRCm39) probably benign Het
Nup214 A G 2: 31,878,200 (GRCm39) N289S possibly damaging Het
Obsl1 G T 1: 75,474,793 (GRCm39) A674D possibly damaging Het
Or1e25 A T 11: 73,493,532 (GRCm39) N42I probably damaging Het
Or51i1 A T 7: 103,671,311 (GRCm39) probably null Het
Pak2 T C 16: 31,862,820 (GRCm39) probably null Het
Pde4a A T 9: 21,103,865 (GRCm39) N138I possibly damaging Het
Per1 A G 11: 68,993,001 (GRCm39) D286G probably damaging Het
Pramel23 G A 4: 143,425,051 (GRCm39) Q131* probably null Het
Prdx2 T A 8: 85,700,681 (GRCm39) D188E probably benign Het
Ptgis T C 2: 167,048,657 (GRCm39) K453R probably damaging Het
Radil A G 5: 142,492,218 (GRCm39) V470A probably benign Het
Rgs12 A G 5: 35,123,464 (GRCm39) S416G probably damaging Het
Rnf213 A G 11: 119,354,162 (GRCm39) H4013R probably benign Het
Ttc17 A G 2: 94,208,055 (GRCm39) L185P probably damaging Het
Ttn A G 2: 76,542,768 (GRCm39) I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 (GRCm38) probably benign Het
Other mutations in Cbfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Cbfb APN 8 105,905,252 (GRCm39) missense possibly damaging 0.94
R5738:Cbfb UTSW 8 105,929,193 (GRCm39) missense probably damaging 0.99
R7923:Cbfb UTSW 8 105,921,225 (GRCm39) critical splice donor site probably null
R9483:Cbfb UTSW 8 105,929,123 (GRCm39) nonsense probably null
R9621:Cbfb UTSW 8 105,905,243 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16