Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01522:Nfyc'

89423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfyc

Ensembl Gene

ENSMUSG00000032897

Gene Name

nuclear transcription factor-Y gamma

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

120757438-120831572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120781524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000117646 (fasta)

Gene Model

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

AlphaFold

P70353

Predicted Effect

unknown
Transcript: ENSMUST00000043429
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000047441
Gene: ENSMUSG00000032897
AA Change: E42G

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

unknown
Transcript: ENSMUST00000097906
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000095516
Gene: ENSMUSG00000032897
AA Change: E42G

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

unknown
Transcript: ENSMUST00000118902
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000112610
Gene: ENSMUSG00000032897
AA Change: E42G

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

unknown
Transcript: ENSMUST00000120779
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000112810
Gene: ENSMUSG00000032897
AA Change: E42G

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 damaging
Transcript: ENSMUST00000136236
AA Change: E42G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117646
Gene: ENSMUSG00000032897
AA Change: E42G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,582,865		probably null	Het
Adamts12	T	C	15: 11,065,159		probably null	Het
Adamts3	T	C	5: 89,702,943	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099		probably benign	Het
Ankrd39	T	A	1: 36,542,061	H69L	probably damaging	Het
Apcdd1	T	A	18: 62,952,115	M461K	possibly damaging	Het
Bpifa3	G	A	2: 154,137,582	C209Y	probably damaging	Het
Cep131	T	C	11: 120,067,163	E779G	probably benign	Het
Cep85	T	C	4: 134,152,255	Q394R	probably damaging	Het
Cep85	G	T	4: 134,152,256	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,017,535	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641	M1I	probably null	Het
Greb1	T	C	12: 16,701,201	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594		probably benign	Het
Jcad	A	G	18: 4,673,312	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972		probably benign	Het
Lama1	A	T	17: 67,752,774		probably benign	Het
Mark2	A	G	19: 7,281,238	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325	V578A	probably benign	Het
Olfr1164	T	C	2: 88,093,016	K307E	possibly damaging	Het
Olfr1504	A	T	19: 13,887,358	L284*	probably null	Het
Olfr344	A	G	2: 36,569,221	T208A	probably benign	Het
Olfr547	A	T	7: 102,535,184	I146F	probably damaging	Het
Olfr935	A	T	9: 38,995,100	C112S	probably benign	Het
Pcdha11	T	C	18: 37,185,008	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240	T30A	probably benign	Het
Pgpep1l	A	G	7: 68,237,708	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,163,116	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799	W305*	probably null	Het
Polq	C	A	16: 37,027,903	L291I	probably damaging	Het
Sdf2l1	T	A	16: 17,132,150	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419	F389L	probably damaging	Het
Wwc2	T	A	8: 47,868,633	Y482F	unknown	Het

Other mutations in Nfyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Nfyc	APN	4	120781547	intron	probably benign
IGL01673:Nfyc	APN	4	120779110	unclassified	probably benign
IGL03197:Nfyc	APN	4	120773761	missense	probably damaging	1.00
PIT4378001:Nfyc	UTSW	4	120790491	critical splice acceptor site	probably null
R0638:Nfyc	UTSW	4	120768884	missense	probably benign	0.19
R0725:Nfyc	UTSW	4	120768734	unclassified	probably benign
R0842:Nfyc	UTSW	4	120759377	missense	probably benign	0.16
R1480:Nfyc	UTSW	4	120768724	critical splice donor site	probably null
R1535:Nfyc	UTSW	4	120761724	missense	probably damaging	0.99
R1940:Nfyc	UTSW	4	120773664	splice site	probably benign
R3753:Nfyc	UTSW	4	120765330	unclassified	probably benign
R5605:Nfyc	UTSW	4	120790489	splice site	probably benign
R6047:Nfyc	UTSW	4	120779117	splice site	probably null
R7545:Nfyc	UTSW	4	120773769	critical splice acceptor site	probably null
R8479:Nfyc	UTSW	4	120768892	missense	probably damaging	0.97
Z1176:Nfyc	UTSW	4	120790487	splice site	probably benign
Z1177:Nfyc	UTSW	4	120790466	missense	unknown

Posted On

2013-12-03