Incidental Mutation 'IGL02037:Cbfb'
ID 184569
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 # IGL02037
Quality Score
Status
Chromosome 8
Chromosomal Location 105897306-105944621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105905252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 65 (S65P)
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 possibly damaging
Transcript: ENSMUST00000052209
AA Change: S65P

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059382
Gene: ENSMUSG00000031885
AA Change: S65P

DomainStartEndE-ValueType
Pfam:CBF_beta 1 168 8.4e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109392
AA Change: S65P

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105019
Gene: ENSMUSG00000031885
AA Change: S65P

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 possibly damaging
Transcript: ENSMUST00000109395
AA Change: S65P

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105022
Gene: ENSMUSG00000031885
AA Change: S65P

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T A 6: 92,804,997 (GRCm39) probably benign Het
Ace2 T A X: 162,946,996 (GRCm39) V293D probably damaging Het
Adgrg6 T C 10: 14,317,185 (GRCm39) Y545C probably damaging Het
Arhgap40 A G 2: 158,376,742 (GRCm39) T293A probably damaging Het
Arhgef19 A G 4: 140,973,707 (GRCm39) T65A probably damaging Het
Brf1 A G 12: 112,956,682 (GRCm39) probably null Het
Chsy1 T C 7: 65,821,576 (GRCm39) S604P possibly damaging Het
Ckmt1 T C 2: 121,191,643 (GRCm39) V271A probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,371,263 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,038,559 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,007 (GRCm39) T492A probably benign Het
Fam3a G A X: 73,430,241 (GRCm39) T156I probably damaging Het
Fbn2 A T 18: 58,229,087 (GRCm39) C708S probably damaging Het
Fgf5 G A 5: 98,409,831 (GRCm39) G127R probably damaging Het
Fhip1a T G 3: 85,637,939 (GRCm39) K120T probably damaging Het
Fn3k A T 11: 121,325,909 (GRCm39) Y32F probably benign Het
Frem3 T C 8: 81,338,118 (GRCm39) I137T probably benign Het
Hc T C 2: 34,903,531 (GRCm39) D1041G probably benign Het
Heatr6 T A 11: 83,655,708 (GRCm39) probably benign Het
Hivep1 G A 13: 42,309,553 (GRCm39) A598T probably benign Het
Ifngr1 T C 10: 19,483,007 (GRCm39) S254P probably benign Het
Kel T C 6: 41,674,408 (GRCm39) S341G probably benign Het
Klra6 A C 6: 129,990,439 (GRCm39) M224R probably benign Het
Mis18bp1 A G 12: 65,183,522 (GRCm39) probably null Het
Mpeg1 C T 19: 12,440,660 (GRCm39) T706I probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Or5al7 G T 2: 85,993,181 (GRCm39) F37L probably benign Het
Palld T C 8: 61,978,148 (GRCm39) R881G probably damaging Het
Pdha2 A T 3: 140,916,662 (GRCm39) V282E probably damaging Het
Pga5 C T 19: 10,654,065 (GRCm39) R46Q probably benign Het
Plekhg2 T C 7: 28,068,122 (GRCm39) Y189C probably damaging Het
Rnf43 A G 11: 87,622,479 (GRCm39) T527A probably benign Het
Rplp0 G A 5: 115,699,174 (GRCm39) R73Q probably benign Het
Smco3 A G 6: 136,808,197 (GRCm39) *226R probably null Het
Sugp2 T C 8: 70,712,324 (GRCm39) probably benign Het
Tsga10 T C 1: 37,846,098 (GRCm39) I343V probably benign Het
Ube2q2 A G 9: 55,075,502 (GRCm39) K104E probably damaging Het
Ube3a C T 7: 58,925,506 (GRCm39) probably benign Het
Usp11 T C X: 20,585,381 (GRCm39) I785T probably damaging Het
Vmn2r22 A T 6: 123,626,026 (GRCm39) C137S probably damaging Het
Zfp281 T C 1: 136,555,185 (GRCm39) V721A possibly damaging Het
Zfp946 T C 17: 22,672,469 (GRCm39) S23P probably damaging Het
Zfyve1 A G 12: 83,594,694 (GRCm39) V766A probably damaging Het
Other mutations in Cbfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02296:Cbfb APN 8 105,905,312 (GRCm39) missense probably damaging 1.00
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 2014-05-07