Incidental Mutation 'IGL03257:Ccny'
| ID |
414691 |
| 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 # |
IGL03257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
9312304-9450154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9386747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 73
(S73T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053917]
|
| AlphaFold |
Q8BGU5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053917
AA Change: S73T
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: S73T
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
| Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
| Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
| Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
| Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
| Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
| Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
| Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
probably damaging |
Het |
|
| Other mutations in Ccny |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Ccny
|
APN |
18 |
9,345,444 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation