Incidental Mutation 'R4197:Ccno'
ID |
318608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccno
|
Ensembl Gene |
ENSMUSG00000042417 |
Gene Name |
cyclin O |
Synonyms |
Ung2, Ccnu |
MMRRC Submission |
041028-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.240)
|
Stock # |
R4197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
113124363-113127313 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 113125603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 189
(C189Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038404]
[ENSMUST00000092089]
|
AlphaFold |
P0C242 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038404
AA Change: C189Y
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040083 Gene: ENSMUSG00000042417 AA Change: C189Y
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 |
probably benign
Transcript: ENSMUST00000092089
|
SMART Domains |
Protein: ENSMUSP00000089721 Gene: ENSMUSG00000074651
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
Pfam:Geminin
|
169 |
258 |
4.8e-20 |
PFAM |
low complexity region
|
262 |
272 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225555
|
Meta Mutation Damage Score |
0.4589 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (42/42) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
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 |
IGL02875:Ccno
|
APN |
13 |
113,124,586 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAATCGCGCTGTAAACTGC -3'
(R):5'- ACAAGTACCACAAAGCTTTGGTTG -3'
Sequencing Primer
(F):5'- TGTAAACTGCTCAGCTGGC -3'
(R):5'- GCCTAACCTCTTTGTAGTCTGAAAGG -3'
|
Posted On |
2015-06-10 |