Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00837:Nfyc'

12344

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 #

IGL00837

Quality Score

Status

Chromosome

Chromosomal Location

120614635-120688769 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 120638744 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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	T	C	6: 55,438,605 (GRCm39)		probably benign	Het
Adig	T	A	2: 158,344,709 (GRCm39)	F16Y	possibly damaging	Het
Alox12e	T	C	11: 70,211,880 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,646,724 (GRCm39)		probably benign	Het
Aoc1	T	A	6: 48,885,598 (GRCm39)	I701N	possibly damaging	Het
Armc1	A	C	3: 19,198,584 (GRCm39)	N125K	probably benign	Het
Bcl2a1c	A	T	9: 114,159,560 (GRCm39)	T113S	probably benign	Het
Cdh10	A	T	15: 19,013,490 (GRCm39)	I697L	probably benign	Het
Cep350	A	T	1: 155,829,137 (GRCm39)	S256T	probably damaging	Het
Chd6	T	C	2: 160,883,999 (GRCm39)	N82S	probably benign	Het
Gart	T	C	16: 91,435,608 (GRCm39)		probably benign	Het
Gtf3c6	A	G	10: 40,130,470 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,851,100 (GRCm39)		probably benign	Het
Mtmr6	T	A	14: 60,517,666 (GRCm39)	Y92*	probably null	Het
Muc13	A	T	16: 33,628,329 (GRCm39)	K360*	probably null	Het
Pole	T	A	5: 110,449,875 (GRCm39)	V774E	possibly damaging	Het
Rnf217	A	G	10: 31,379,770 (GRCm39)	L484P	probably damaging	Het
Slc18a2	A	T	19: 59,272,816 (GRCm39)	I373F	probably benign	Het
Slc5a9	A	G	4: 111,750,887 (GRCm39)		probably benign	Het
Tbc1d30	T	C	10: 121,132,750 (GRCm39)	I205V	probably damaging	Het
Tfap2d	A	T	1: 19,189,430 (GRCm39)	D270V	probably damaging	Het
Tmem63c	G	A	12: 87,123,971 (GRCm39)	S483N	probably benign	Het
Tor1aip1	T	A	1: 155,882,662 (GRCm39)		probably benign	Het
Tsga10	A	C	1: 37,840,992 (GRCm39)		probably benign	Het
Ttc21b	A	T	2: 66,065,915 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,825 (GRCm39)	L143*	probably null	Het

Other mutations in Nfyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Nfyc	APN	4	120,638,721 (GRCm39)	missense	probably damaging	1.00
IGL01673:Nfyc	APN	4	120,636,307 (GRCm39)	unclassified	probably benign
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

2012-12-06