Incidental Mutation 'R7858:Ccny'
| ID |
607348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccny
|
| Ensembl Gene |
ENSMUSG00000024286 |
| Gene Name |
cyclin Y |
| Synonyms |
1700025H17Rik, 4631402G10Rik, 5730405I09Rik, 3110050L10Rik |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
9312304-9450154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9386782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 61
(D61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053917]
|
| AlphaFold |
Q8BGU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053917
AA Change: D61V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050001
Gene: ENSMUSG00000024286
AA Change: D61V
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
173 |
258 |
1.36e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1545 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCATTACACACAGTACTTCATGG -3'
(R):5'- GCTCACCTGTGGAACATATCAG -3'
Sequencing Primer
(F):5'- CACAGTACTTCATGGTCACTAAAGGG -3'
(R):5'- CACCTGTGGAACATATCAGATATGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation