Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Ccnf'

233959

Institutional Source

Beutler Lab

Gene Symbol

Ccnf

Ensembl Gene

ENSMUSG00000072082

Gene Name

cyclin F

Synonyms

CycF, Fbxo1

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24441518-24470333 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 24449288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111048 (fasta)

Gene Model

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

AlphaFold

P51944

Predicted Effect

probably null
Transcript: ENSMUST00000115390

SMART Domains

Protein: ENSMUSP00000111048
Gene: ENSMUSG00000072082

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

noncoding transcript
Transcript: ENSMUST00000175529

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly damaging	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
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
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'- CTGAGTGACAGTAGCTAGGTG -3'
(R):5'- AAGCCTGAGTCTGGGTAAATG -3'

Sequencing Primer
(F):5'- GCTAGGTCTCATCAGGGAAGC -3'
(R):5'- GTCTGGGTAAATGTTACGGAACTACC -3'

Posted On

2014-10-01