Incidental Mutation 'IGL00863:Ccny'
ID |
9472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccny
|
Ensembl Gene |
ENSMUSG00000024286 |
Gene Name |
cyclin Y |
Synonyms |
1700025H17Rik, 4631402G10Rik, 5730405I09Rik, 3110050L10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
IGL00863
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
9312304-9450154 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9345444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 143
(D143E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053917]
|
AlphaFold |
Q8BGU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053917
AA Change: D143E
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000050001 Gene: ENSMUSG00000024286 AA Change: D143E
Domain | Start | End | E-Value | Type |
CYCLIN
|
173 |
258 |
1.36e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired adipogenesis and lipid production. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,380 (GRCm39) |
T226S |
probably benign |
Het |
Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
Other mutations in Ccny |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01986:Ccny
|
APN |
18 |
9,377,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03000:Ccny
|
APN |
18 |
9,353,489 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03257:Ccny
|
APN |
18 |
9,386,747 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0015:Ccny
|
UTSW |
18 |
9,316,682 (GRCm39) |
splice site |
probably benign |
|
R0015:Ccny
|
UTSW |
18 |
9,316,682 (GRCm39) |
splice site |
probably benign |
|
R0372:Ccny
|
UTSW |
18 |
9,345,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Ccny
|
UTSW |
18 |
9,332,917 (GRCm39) |
missense |
probably benign |
0.21 |
R1645:Ccny
|
UTSW |
18 |
9,345,199 (GRCm39) |
missense |
probably damaging |
0.99 |
R2044:Ccny
|
UTSW |
18 |
9,449,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R2405:Ccny
|
UTSW |
18 |
9,353,480 (GRCm39) |
missense |
probably benign |
0.08 |
R3847:Ccny
|
UTSW |
18 |
9,449,641 (GRCm39) |
missense |
probably benign |
0.37 |
R3864:Ccny
|
UTSW |
18 |
9,449,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4198:Ccny
|
UTSW |
18 |
9,332,928 (GRCm39) |
missense |
probably damaging |
0.96 |
R4964:Ccny
|
UTSW |
18 |
9,449,516 (GRCm39) |
critical splice donor site |
probably null |
|
R6474:Ccny
|
UTSW |
18 |
9,345,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R7858:Ccny
|
UTSW |
18 |
9,386,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R8889:Ccny
|
UTSW |
18 |
9,345,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Ccny
|
UTSW |
18 |
9,345,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R9004:Ccny
|
UTSW |
18 |
9,332,883 (GRCm39) |
missense |
possibly damaging |
0.74 |
X0050:Ccny
|
UTSW |
18 |
9,332,874 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1177:Ccny
|
UTSW |
18 |
9,353,494 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |