Incidental Mutation 'R0108:Nfyb'
ID 64169
Institutional Source Beutler Lab
Gene Symbol Nfyb
Ensembl Gene ENSMUSG00000020248
Gene Name nuclear transcription factor-Y beta
Synonyms Cbf-A
MMRRC Submission 038394-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R0108 (G1)
Quality Score 84
Status Not validated
Chromosome 10
Chromosomal Location 82584535-82599978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82590836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 65 (A65V)
Ref Sequence ENSEMBL: ENSMUSP00000116039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130911] [ENSMUST00000142523]
AlphaFold P63139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129640
Predicted Effect possibly damaging
Transcript: ENSMUST00000130911
AA Change: A65V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122403
Gene: ENSMUSG00000020248
AA Change: A65V

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 57 122 1.3e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142523
AA Change: A65V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116039
Gene: ENSMUSG00000020248
AA Change: A65V

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 57 106 9.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145561
Meta Mutation Damage Score 0.1042 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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 one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,311,184 (GRCm39) V1147A probably benign Het
Arid5b T C 10: 68,114,559 (GRCm39) probably benign Het
Impg1 T C 9: 80,230,130 (GRCm39) N655D possibly damaging Het
Jph4 T C 14: 55,346,757 (GRCm39) R597G probably benign Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mpdz C T 4: 81,300,042 (GRCm39) V319I probably damaging Het
Myh14 A G 7: 44,283,943 (GRCm39) V654A probably damaging Het
Nod1 A G 6: 54,920,734 (GRCm39) F528S probably benign Het
Obscn T C 11: 58,913,200 (GRCm39) D6939G probably damaging Het
Or2bd2 C T 7: 6,443,399 (GRCm39) R167C probably damaging Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Ptprj A T 2: 90,300,121 (GRCm39) probably null Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Tas2r120 T A 6: 132,634,809 (GRCm39) probably null Het
Topaz1 A T 9: 122,604,674 (GRCm39) I1093L probably benign Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Other mutations in Nfyb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Nfyb APN 10 82,588,260 (GRCm39) missense probably damaging 1.00
IGL01838:Nfyb APN 10 82,586,642 (GRCm39) missense probably benign 0.01
IGL02733:Nfyb APN 10 82,590,867 (GRCm39) missense probably damaging 1.00
R0109:Nfyb UTSW 10 82,590,836 (GRCm39) missense possibly damaging 0.95
R0109:Nfyb UTSW 10 82,590,836 (GRCm39) missense possibly damaging 0.95
R0441:Nfyb UTSW 10 82,586,594 (GRCm39) missense possibly damaging 0.92
R0689:Nfyb UTSW 10 82,590,836 (GRCm39) missense possibly damaging 0.95
R1296:Nfyb UTSW 10 82,586,665 (GRCm39) unclassified probably benign
R4795:Nfyb UTSW 10 82,588,202 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGCTGAGAGGCTGGGACTGAAATC -3'
(R):5'- ACATGGCTCCTGCTTTAGACCATTG -3'

Sequencing Primer
(F):5'- AGGCTGGGACTGAAATCAATAG -3'
(R):5'- agatcccttggaactggaattac -3'
Posted On 2013-08-06