Incidental Mutation 'IGL02733:Nfyb'
ID305536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfyb
Ensembl Gene ENSMUSG00000020248
Gene Namenuclear transcription factor-Y beta
SynonymsCbf-A
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.924) question?
Stock #IGL02733
Quality Score
Status
Chromosome10
Chromosomal Location82748701-82764144 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 82755033 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 55 (Q55K)
Ref Sequence ENSEMBL: ENSMUSP00000116039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000130911] [ENSMUST00000142523]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129640
Predicted Effect probably damaging
Transcript: ENSMUST00000130911
AA Change: Q55K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122403
Gene: ENSMUSG00000020248
AA Change: Q55K

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 57 122 1.3e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142523
AA Change: Q55K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116039
Gene: ENSMUSG00000020248
AA Change: Q55K

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 57 106 9.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145561
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 T A 4: 49,447,793 T245S probably benign Het
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gcc1 G A 6: 28,420,662 Q66* probably null Het
Gypc T C 18: 32,559,826 probably benign Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Hoxc4 A G 15: 103,034,726 I2V probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nobox T C 6: 43,307,202 K137E possibly damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign Het
Other mutations in Nfyb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Nfyb APN 10 82752426 missense probably damaging 1.00
IGL01838:Nfyb APN 10 82750808 missense probably benign 0.01
R0108:Nfyb UTSW 10 82755002 missense possibly damaging 0.95
R0109:Nfyb UTSW 10 82755002 missense possibly damaging 0.95
R0109:Nfyb UTSW 10 82755002 missense possibly damaging 0.95
R0441:Nfyb UTSW 10 82750760 missense possibly damaging 0.92
R0689:Nfyb UTSW 10 82755002 missense possibly damaging 0.95
R1296:Nfyb UTSW 10 82750831 unclassified probably benign
R4795:Nfyb UTSW 10 82752368 unclassified probably benign
Posted On2015-04-16