Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Ccnf'

686244

Institutional Source

Beutler Lab

Gene Symbol

Ccnf

Ensembl Gene

ENSMUSG00000072082

Gene Name

cyclin F

Synonyms

CycF, Fbxo1

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24441518-24470333 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24445679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 522 (Y522*)

Ref Sequence

ENSEMBL: ENSMUSP00000111048 (fasta)

Gene Model

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

AlphaFold

P51944

Predicted Effect

probably null
Transcript: ENSMUST00000115390
AA Change: Y522*

SMART Domains

Protein: ENSMUSP00000111048
Gene: ENSMUSG00000072082
AA Change: Y522*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (64/65)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Clint1	T	A	11: 45,797,042 (GRCm39)	S374R	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Lrriq4	T	G	3: 30,704,401 (GRCm39)	V143G	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mmp14	T	C	14: 54,673,632 (GRCm39)	F99L	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or11h4	T	G	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or2i1	G	T	17: 37,508,380 (GRCm39)	R85S	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	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
R7180:Ccnf	UTSW	17	24,442,889 (GRCm39)	missense	probably benign	0.00
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
R9623:Ccnf	UTSW	17	24,468,367 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGAAGGTGTGGATCTCC -3'
(R):5'- GTGATCTCAGCCTCTGACTG -3'

Sequencing Primer
(F):5'- TGTGGATCTCCCCTGAGCTAG -3'
(R):5'- CTGACTGCTCCTATGTGAGATGAAC -3'

Posted On

2021-10-11