Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Ccnf'

558944

Institutional Source

Beutler Lab

Gene Symbol

Ccnf

Ensembl Gene

ENSMUSG00000072082

Gene Name

cyclin F

Synonyms

CycF, Fbxo1

MMRRC Submission

045233-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24441518-24470333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24442889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 773 (M773L)

Ref Sequence

ENSEMBL: ENSMUSP00000111048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024930] [ENSMUST00000115390]

AlphaFold

P51944

Predicted Effect

probably benign
Transcript: ENSMUST00000024930

SMART Domains

Protein: ENSMUSP00000024930
Gene: ENSMUSG00000024118

Domain	Start	End	E-Value	Type
low complexity region	32	49	N/A	INTRINSIC
low complexity region	78	84	N/A	INTRINSIC
low complexity region	111	131	N/A	INTRINSIC
Pfam:DUF4693	150	434	8.6e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115390
AA Change: M773L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111048
Gene: ENSMUSG00000072082
AA Change: M773L

Domain	Start	End	E-Value	Type
FBOX	35	75	1.56e-6	SMART
CYCLIN	315	399	2.25e-13	SMART
Cyclin_C	408	531	2.58e-19	SMART
CYCLIN	416	494	2.27e-9	SMART
low complexity region	545	555	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124557

SMART Domains

Protein: ENSMUSP00000119405
Gene: ENSMUSG00000024118

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E9.5 and E10.5 due to defects in yolk sac and chorioallantoic placenta maturation. Embryos show incomplete turning, underdeveloped posterior structures, neural tube closure and braindefects. MEFs have cell cycle defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,573,228 (GRCm39)		probably null	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ces1g	T	A	8: 94,029,576 (GRCm39)	E552V	probably benign	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Jak2	A	G	19: 29,259,811 (GRCm39)	I237V	probably benign	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssc5d	A	G	7: 4,939,600 (GRCm39)	T679A	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	probably benign	Het

Other mutations in Ccnf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Ccnf	APN	17	24,443,986 (GRCm39)	missense	probably damaging	1.00
IGL01942:Ccnf	APN	17	24,461,294 (GRCm39)	missense	probably benign	0.03
IGL02251:Ccnf	APN	17	24,445,513 (GRCm39)	missense	probably benign	0.00
IGL02945:Ccnf	APN	17	24,443,890 (GRCm39)	missense	probably damaging	0.99
IGL02952:Ccnf	APN	17	24,450,299 (GRCm39)	missense	possibly damaging	0.93
albuquerque	UTSW	17	24,442,971 (GRCm39)	nonsense	probably null
R0326:Ccnf	UTSW	17	24,450,784 (GRCm39)	missense	possibly damaging	0.84
R0891:Ccnf	UTSW	17	24,445,751 (GRCm39)	missense	possibly damaging	0.93
R1069:Ccnf	UTSW	17	24,442,971 (GRCm39)	nonsense	probably null
R1072:Ccnf	UTSW	17	24,456,136 (GRCm39)	missense	probably damaging	0.97
R1693:Ccnf	UTSW	17	24,445,514 (GRCm39)	frame shift	probably null
R2147:Ccnf	UTSW	17	24,449,288 (GRCm39)	critical splice donor site	probably null
R3929:Ccnf	UTSW	17	24,453,356 (GRCm39)	missense	probably damaging	1.00
R4081:Ccnf	UTSW	17	24,442,872 (GRCm39)	makesense	probably null
R4260:Ccnf	UTSW	17	24,445,741 (GRCm39)	missense	probably damaging	1.00
R4579:Ccnf	UTSW	17	24,450,303 (GRCm39)	nonsense	probably null
R4651:Ccnf	UTSW	17	24,450,760 (GRCm39)	missense	probably damaging	1.00
R4844:Ccnf	UTSW	17	24,449,331 (GRCm39)	nonsense	probably null
R4876:Ccnf	UTSW	17	24,449,311 (GRCm39)	missense	probably damaging	1.00
R5234:Ccnf	UTSW	17	24,453,411 (GRCm39)	nonsense	probably null
R5352:Ccnf	UTSW	17	24,462,247 (GRCm39)	splice site	probably null
R5845:Ccnf	UTSW	17	24,459,767 (GRCm39)	missense	possibly damaging	0.95
R6084:Ccnf	UTSW	17	24,450,811 (GRCm39)	missense	probably damaging	1.00
R6219:Ccnf	UTSW	17	24,445,678 (GRCm39)	nonsense	probably null
R7021:Ccnf	UTSW	17	24,461,205 (GRCm39)	missense	probably damaging	1.00
R7176:Ccnf	UTSW	17	24,468,376 (GRCm39)	missense	possibly damaging	0.54
R7485:Ccnf	UTSW	17	24,468,232 (GRCm39)	missense	probably damaging	0.97
R7763:Ccnf	UTSW	17	24,443,986 (GRCm39)	missense	probably damaging	1.00
R8016:Ccnf	UTSW	17	24,450,784 (GRCm39)	missense	possibly damaging	0.84
R8034:Ccnf	UTSW	17	24,450,805 (GRCm39)	missense	probably damaging	1.00
R8069:Ccnf	UTSW	17	24,443,989 (GRCm39)	missense	probably damaging	1.00
R9021:Ccnf	UTSW	17	24,445,679 (GRCm39)	nonsense	probably null
R9623:Ccnf	UTSW	17	24,468,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAACACGTAGAGGCTGAG -3'
(R):5'- TCTGTTAGCAGCTCGAGTCC -3'

Sequencing Primer
(F):5'- TGAGCTGGTCACTGAGCTC -3'
(R):5'- TGTTAGCAGCTCGAGTCCCATAAG -3'

Posted On

2019-06-26