Incidental Mutation 'IGL01838:Nfyb'
ID 155031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfyb
Ensembl Gene ENSMUSG00000020248
Gene Name nuclear transcription factor-Y beta
Synonyms Cbf-A
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL01838
Quality Score
Status
Chromosome 10
Chromosomal Location 82584535-82599978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82586642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 174 (L174S)
Ref Sequence ENSEMBL: ENSMUSP00000122403 (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 probably benign
Transcript: ENSMUST00000130911
AA Change: L174S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122403
Gene: ENSMUSG00000020248
AA Change: L174S

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 57 122 1.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142523
SMART Domains Protein: ENSMUSP00000116039
Gene: ENSMUSG00000020248

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Cpe G T 8: 65,047,998 (GRCm39) T422K possibly damaging Het
Dis3l C A 9: 64,215,581 (GRCm39) V888L probably benign Het
Dnah7b T A 1: 46,397,297 (GRCm39) Y3909* probably null Het
Dnajb8 G A 6: 88,200,033 (GRCm39) V190M possibly damaging Het
Grip2 A G 6: 91,741,744 (GRCm39) V927A possibly damaging Het
Hyal3 C T 9: 107,463,786 (GRCm39) R304C possibly damaging Het
Igkv8-21 A G 6: 70,292,009 (GRCm39) S78P probably damaging Het
Lrrc7 A G 3: 157,891,100 (GRCm39) S356P probably damaging Het
Meiob T C 17: 25,042,643 (GRCm39) V157A possibly damaging Het
Mrpl48 C T 7: 100,201,860 (GRCm39) V35M probably damaging Het
Myo9b T C 8: 71,787,034 (GRCm39) Y739H probably damaging Het
Prm2 T C 16: 10,609,672 (GRCm39) probably benign Het
Prss50 T C 9: 110,693,560 (GRCm39) L432P probably benign Het
Raly T A 2: 154,701,590 (GRCm39) probably benign Het
Scn11a A T 9: 119,587,649 (GRCm39) M1365K probably damaging Het
Slc28a2b C A 2: 122,348,464 (GRCm39) F270L possibly damaging Het
Spred1 T G 2: 117,008,062 (GRCm39) S323A probably benign Het
Svep1 T C 4: 58,121,910 (GRCm39) E761G possibly damaging Het
Thbs3 A T 3: 89,126,365 (GRCm39) K229* probably null Het
Thoc1 G A 18: 9,993,386 (GRCm39) G582S possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vmn2r114 T C 17: 23,515,956 (GRCm39) T512A probably benign Het
Wee1 T C 7: 109,723,744 (GRCm39) S220P probably benign Het
Other mutations in Nfyb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Nfyb APN 10 82,588,260 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2014-02-04