Incidental Mutation 'IGL01399:Ccnf'
| ID |
79565 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccnf
|
| Ensembl Gene |
ENSMUSG00000072082 |
| Gene Name |
cyclin F |
| Synonyms |
CycF, Fbxo1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24441518-24470333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24443986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 594
(S594L)
|
| 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 damaging
Transcript: ENSMUST00000115390
AA Change: S594L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111048
Gene: ENSMUSG00000072082
AA Change: S594L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171563
|
| 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 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,790 (GRCm39) |
N206K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,984,386 (GRCm39) |
Y3223H |
unknown |
Het |
| Btaf1 |
C |
T |
19: 36,977,570 (GRCm39) |
R1463* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,499,611 (GRCm39) |
I857T |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,144 (GRCm39) |
W195R |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,203,025 (GRCm39) |
Y769C |
probably damaging |
Het |
| Cwc22 |
T |
C |
2: 77,747,408 (GRCm39) |
E435G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,273,890 (GRCm39) |
F339S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,761,968 (GRCm39) |
E554* |
probably null |
Het |
| Dock3 |
G |
T |
9: 106,870,670 (GRCm39) |
S581R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,156,598 (GRCm39) |
H176R |
probably benign |
Het |
| Emc8 |
A |
G |
8: 121,385,745 (GRCm39) |
M123T |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,490,357 (GRCm39) |
D55V |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,907,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
T |
3: 62,511,852 (GRCm39) |
L49Q |
probably damaging |
Het |
| Hcfc1 |
C |
T |
X: 72,993,515 (GRCm39) |
V1217I |
possibly damaging |
Het |
| Hoxa4 |
G |
T |
6: 52,167,393 (GRCm39) |
Q263K |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,423,592 (GRCm39) |
E790G |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,384 (GRCm39) |
N138D |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,836 (GRCm39) |
T158S |
possibly damaging |
Het |
| Klf17 |
A |
G |
4: 117,616,356 (GRCm39) |
F325S |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,370,161 (GRCm39) |
L233P |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,651,470 (GRCm39) |
L1544Q |
probably damaging |
Het |
| Nexmif |
T |
A |
X: 103,130,786 (GRCm39) |
D377V |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,280,972 (GRCm39) |
T501A |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,804,099 (GRCm39) |
D93G |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,196,624 (GRCm39) |
I1120T |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,803 (GRCm39) |
M46K |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,629 (GRCm39) |
V214I |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,669 (GRCm39) |
T148I |
probably damaging |
Het |
| Sgce |
C |
A |
6: 4,746,997 (GRCm39) |
G31V |
probably damaging |
Het |
| Slc35e1 |
C |
A |
8: 73,238,534 (GRCm39) |
A325S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,376,794 (GRCm39) |
D1016G |
probably damaging |
Het |
| Synj2 |
T |
G |
17: 6,060,046 (GRCm39) |
C149W |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,145,411 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,594,164 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
T |
A |
7: 42,553,543 (GRCm39) |
K571M |
probably damaging |
Het |
| Wdr53 |
A |
G |
16: 32,070,718 (GRCm39) |
D21G |
possibly damaging |
Het |
| Zbtb3 |
T |
C |
19: 8,780,819 (GRCm39) |
L144S |
probably damaging |
Het |
| Zfp185 |
T |
A |
X: 72,043,654 (GRCm39) |
S154T |
probably damaging |
Het |
|
| Other mutations in Ccnf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9021:Ccnf
|
UTSW |
17 |
24,445,679 (GRCm39) |
nonsense |
probably null |
|
|
R9623:Ccnf
|
UTSW |
17 |
24,468,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation