Incidental Mutation 'IGL02875:Ccno'
| ID |
406203 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccno
|
| Ensembl Gene |
ENSMUSG00000042417 |
| Gene Name |
cyclin O |
| Synonyms |
Ung2, Ccnu |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL02875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113124363-113127313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 113124586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 52
(P52Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038404]
|
| AlphaFold |
P0C242 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038404
AA Change: P52Q
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040083
Gene: ENSMUSG00000042417
AA Change: P52Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
CYCLIN
|
140 |
224 |
1.23e-19 |
SMART |
|
Cyclin_C
|
233 |
350 |
3.49e-7 |
SMART |
|
CYCLIN
|
244 |
327 |
5.77e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225555
|
| 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 protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pre-weaning lethality after E17, hydrocephaly, growth retardation, enlarged brain ventricles, thin cerebral cortex, nasal cavity congestion and impaired formation of deuterosomes and centrioles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,595,380 (GRCm39) |
S281P |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,896,713 (GRCm39) |
V1053A |
probably damaging |
Het |
| Btg4 |
T |
A |
9: 51,030,446 (GRCm39) |
F182Y |
probably benign |
Het |
| Casc3 |
T |
G |
11: 98,712,378 (GRCm39) |
V139G |
probably damaging |
Het |
| Cdk1 |
T |
G |
10: 69,178,366 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,579,985 (GRCm39) |
D315G |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,115,698 (GRCm39) |
I1515V |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,864,231 (GRCm39) |
I1241K |
probably benign |
Het |
| Fam180a |
T |
C |
6: 35,290,617 (GRCm39) |
D122G |
probably damaging |
Het |
| Gm11992 |
C |
T |
11: 9,002,887 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
| Krt77 |
T |
C |
15: 101,777,584 (GRCm39) |
D157G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
| Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
T |
A |
16: 31,772,971 (GRCm39) |
L36Q |
probably damaging |
Het |
| Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,472 (GRCm39) |
M101V |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,970,601 (GRCm39) |
D130G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,636,404 (GRCm39) |
M615K |
possibly damaging |
Het |
| Prep |
C |
A |
10: 45,034,529 (GRCm39) |
H680Q |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,493,365 (GRCm39) |
I264T |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
| Skint3 |
A |
T |
4: 112,113,079 (GRCm39) |
I230L |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,104,253 (GRCm39) |
Y375H |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,082,821 (GRCm39) |
|
probably benign |
Het |
| Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
|
| Other mutations in Ccno |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Ccno
|
APN |
13 |
113,125,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Ccno
|
UTSW |
13 |
113,125,418 (GRCm39) |
unclassified |
probably benign |
|
|
R0329:Ccno
|
UTSW |
13 |
113,126,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Ccno
|
UTSW |
13 |
113,126,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Ccno
|
UTSW |
13 |
113,126,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Ccno
|
UTSW |
13 |
113,124,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4197:Ccno
|
UTSW |
13 |
113,125,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4683:Ccno
|
UTSW |
13 |
113,125,543 (GRCm39) |
splice site |
probably null |
|
|
R4825:Ccno
|
UTSW |
13 |
113,124,633 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6180:Ccno
|
UTSW |
13 |
113,126,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Ccno
|
UTSW |
13 |
113,124,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7871:Ccno
|
UTSW |
13 |
113,124,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8142:Ccno
|
UTSW |
13 |
113,125,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Ccno
|
UTSW |
13 |
113,124,678 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8829:Ccno
|
UTSW |
13 |
113,126,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8832:Ccno
|
UTSW |
13 |
113,126,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation