Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Nfyb'

305536

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

Is this an essential gene?

Probably essential (E-score: 0.924) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

82748701-82764144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82755033 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16