Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01673:Nfyc'

103571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfyc

Ensembl Gene

ENSMUSG00000032897

Gene Name

nuclear transcription factor-Y gamma

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL01673

Quality Score

Status

Chromosome

Chromosomal Location

120614635-120688769 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 120636307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043429] [ENSMUST00000097906] [ENSMUST00000118902] [ENSMUST00000120779] [ENSMUST00000134979] [ENSMUST00000136236] [ENSMUST00000145658]

AlphaFold

P70353

Predicted Effect

probably benign
Transcript: ENSMUST00000043429

SMART Domains

Protein: ENSMUSP00000047441
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Histone	36	107	2.5e-13	PFAM
Pfam:CBFD_NFYB_HMF	41	105	4.5e-23	PFAM
low complexity region	150	190	N/A	INTRINSIC
low complexity region	193	231	N/A	INTRINSIC
low complexity region	275	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097906

SMART Domains

Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
Pfam:Histone	9	107	7.2e-17	PFAM
Pfam:CBFD_NFYB_HMF	41	105	7.8e-23	PFAM
low complexity region	150	190	N/A	INTRINSIC
low complexity region	193	231	N/A	INTRINSIC
low complexity region	275	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118902

SMART Domains

Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Histone	36	107	2.5e-13	PFAM
Pfam:CBFD_NFYB_HMF	41	105	4.5e-23	PFAM
low complexity region	150	190	N/A	INTRINSIC
low complexity region	193	231	N/A	INTRINSIC
low complexity region	275	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120779

SMART Domains

Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Histone	36	107	2.5e-13	PFAM
Pfam:CBFD_NFYB_HMF	41	105	4.5e-23	PFAM
low complexity region	150	190	N/A	INTRINSIC
low complexity region	193	231	N/A	INTRINSIC
low complexity region	275	297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134979

SMART Domains

Protein: ENSMUSP00000114640
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
PDB:1N1J\|B	23	58	8e-9	PDB
low complexity region	88	128	N/A	INTRINSIC
low complexity region	132	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136236

SMART Domains

Protein: ENSMUSP00000117646
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:CBFD_NFYB_HMF	41	70	5.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145658

SMART Domains

Protein: ENSMUSP00000114591
Gene: ENSMUSG00000032897

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
SCOP:d1b67a_	25	53	3e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cpz	A	T	5: 35,669,891 (GRCm39)	V262E	probably benign	Het
Cyp4f14	A	G	17: 33,130,125 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,800,861 (GRCm39)	V339F	probably damaging	Het
Gpn1	T	G	5: 31,652,179 (GRCm39)	C21W	probably damaging	Het
Gpr63	A	T	4: 25,008,014 (GRCm39)	Q246L	probably benign	Het
Hsp90b1	T	A	10: 86,529,296 (GRCm39)	M658L	probably damaging	Het
Immp2l	T	C	12: 41,118,320 (GRCm39)	S4P	probably benign	Het
Krtap9-5	A	T	11: 99,840,377 (GRCm39)	*359C	probably null	Het
Lgals7	A	G	7: 28,565,621 (GRCm39)		probably benign	Het
Mak	G	T	13: 41,201,699 (GRCm39)		probably null	Het
Mrps18c	A	G	5: 100,946,672 (GRCm39)	R13G	possibly damaging	Het
Myo7a	A	G	7: 97,703,915 (GRCm39)	V1946A	probably benign	Het
Nkx2-4	C	T	2: 146,925,834 (GRCm39)	V343M	possibly damaging	Het
Or5be3	T	C	2: 86,863,731 (GRCm39)	Y278C	probably damaging	Het
Or8d2	T	C	9: 38,760,316 (GRCm39)	V302A	probably benign	Het
Rapgef4	G	T	2: 72,071,781 (GRCm39)	S743I	probably damaging	Het
Tcf7	A	G	11: 52,147,823 (GRCm39)	C210R	probably damaging	Het
Ubqln3	T	A	7: 103,791,605 (GRCm39)	I162F	probably benign	Het
Vmn1r216	A	G	13: 23,283,641 (GRCm39)	Q108R	probably damaging	Het
Vmn1r74	A	T	7: 11,581,317 (GRCm39)	I206F	possibly damaging	Het
Wdr64	T	C	1: 175,627,922 (GRCm39)	I872T	possibly damaging	Het

Other mutations in Nfyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Nfyc	APN	4	120,638,744 (GRCm39)	intron	probably benign
IGL01522:Nfyc	APN	4	120,638,721 (GRCm39)	missense	probably damaging	1.00
IGL03197:Nfyc	APN	4	120,630,958 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Nfyc	UTSW	4	120,647,688 (GRCm39)	critical splice acceptor site	probably null
R0638:Nfyc	UTSW	4	120,626,081 (GRCm39)	missense	probably benign	0.19
R0725:Nfyc	UTSW	4	120,625,931 (GRCm39)	unclassified	probably benign
R0842:Nfyc	UTSW	4	120,616,574 (GRCm39)	missense	probably benign	0.16
R1480:Nfyc	UTSW	4	120,625,921 (GRCm39)	critical splice donor site	probably null
R1535:Nfyc	UTSW	4	120,618,921 (GRCm39)	missense	probably damaging	0.99
R1940:Nfyc	UTSW	4	120,630,861 (GRCm39)	splice site	probably benign
R3753:Nfyc	UTSW	4	120,622,527 (GRCm39)	unclassified	probably benign
R5605:Nfyc	UTSW	4	120,647,686 (GRCm39)	splice site	probably benign
R6047:Nfyc	UTSW	4	120,636,314 (GRCm39)	splice site	probably null
R7545:Nfyc	UTSW	4	120,630,966 (GRCm39)	critical splice acceptor site	probably null
R8479:Nfyc	UTSW	4	120,626,089 (GRCm39)	missense	probably damaging	0.97
Z1176:Nfyc	UTSW	4	120,647,684 (GRCm39)	splice site	probably benign
Z1177:Nfyc	UTSW	4	120,647,663 (GRCm39)	missense	unknown

Posted On

2014-01-21