Incidental Mutation 'R0109:Nfyb'
ID 64212
Institutional Source Beutler Lab
Gene Symbol Nfyb
Ensembl Gene ENSMUSG00000020248
Gene Name nuclear transcription factor-Y beta
Synonyms Cbf-A
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R0109 (G1)
Quality Score 112
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Arhgef10l A T 4: 140,305,605 (GRCm39) S203T probably benign Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Col19a1 A C 1: 24,598,849 (GRCm39) probably null Het
Cps1 T C 1: 67,268,577 (GRCm39) V1435A possibly damaging Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Efhd2 A G 4: 141,601,878 (GRCm39) F101L probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Fras1 T C 5: 96,857,936 (GRCm39) S2077P probably benign Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Hspg2 T C 4: 137,289,512 (GRCm39) V3824A probably benign Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Or4a69 A G 2: 89,313,147 (GRCm39) F111L probably benign Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Parp9 T C 16: 35,768,711 (GRCm39) I64T probably damaging Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rtl1 G A 12: 109,561,841 (GRCm39) probably benign Het
Sgsm3 G C 15: 80,893,667 (GRCm39) D434H probably damaging Het
Shank2 T C 7: 143,964,314 (GRCm39) S634P possibly damaging Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ttn T A 2: 76,555,908 (GRCm39) I30366F probably damaging Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r114 A T 17: 23,529,549 (GRCm39) Y184* probably null Het
Vmn2r53 C T 7: 12,315,993 (GRCm39) A609T probably damaging Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Xirp2 T A 2: 67,349,622 (GRCm39) N3272K probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp454 T A 11: 50,774,602 (GRCm39) T24S possibly damaging 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
R0108: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'- AGCCACATGGCTCCTGCTTTAGAC -3'

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