Incidental Mutation 'IGL00793:Ccne1'
| ID |
12518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccne1
|
| Ensembl Gene |
ENSMUSG00000002068 |
| Gene Name |
cyclin E1 |
| Synonyms |
CycE1, cyclin E |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
37797409-37806915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37805726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 50
(V50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108023]
[ENSMUST00000124979]
[ENSMUST00000130329]
|
| AlphaFold |
Q61457 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108023
AA Change: V50G
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103658
Gene: ENSMUSG00000002068
AA Change: V50G
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
148 |
233 |
5.88e-26 |
SMART |
|
Cyclin_C
|
242 |
364 |
2.36e-13 |
SMART |
|
low complexity region
|
385 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130329
AA Change: V50G
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117662
Gene: ENSMUSG00000002068
AA Change: V50G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_N
|
113 |
167 |
5.4e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [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 |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Ccne1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Ccne1
|
APN |
7 |
37,798,415 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02800:Ccne1
|
APN |
7 |
37,802,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Ccne1
|
UTSW |
7 |
37,805,747 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1938:Ccne1
|
UTSW |
7 |
37,805,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4810:Ccne1
|
UTSW |
7 |
37,799,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Ccne1
|
UTSW |
7 |
37,798,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Ccne1
|
UTSW |
7 |
37,799,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Ccne1
|
UTSW |
7 |
37,806,279 (GRCm39) |
start gained |
probably benign |
|
|
R6981:Ccne1
|
UTSW |
7 |
37,797,998 (GRCm39) |
unclassified |
probably benign |
|
|
R7165:Ccne1
|
UTSW |
7 |
37,798,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Ccne1
|
UTSW |
7 |
37,805,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7458:Ccne1
|
UTSW |
7 |
37,800,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Ccne1
|
UTSW |
7 |
37,802,270 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8744:Ccne1
|
UTSW |
7 |
37,802,598 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8855:Ccne1
|
UTSW |
7 |
37,800,046 (GRCm39) |
missense |
probably benign |
|
|
R8866:Ccne1
|
UTSW |
7 |
37,800,046 (GRCm39) |
missense |
probably benign |
|
|
R9011:Ccne1
|
UTSW |
7 |
37,806,085 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9185:Ccne1
|
UTSW |
7 |
37,799,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation