Incidental Mutation 'G5030:Ccng1'
ID |
494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccng1
|
Ensembl Gene |
ENSMUSG00000020326 |
Gene Name |
cyclin G1 |
Synonyms |
cyclin G |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.340)
|
Stock # |
G5030 (G3)
of strain
560
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
40639379-40646044 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 40644629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020576]
|
AlphaFold |
P51945 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020576
|
SMART Domains |
Protein: ENSMUSP00000020576 Gene: ENSMUSG00000020326
Domain | Start | End | E-Value | Type |
CYCLIN
|
56 |
142 |
3.63e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151359
|
Coding Region Coverage |
|
Het Detection Efficiency |
35.6% |
Validation Efficiency |
87% (206/237) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Depending on the allele, homozygous mutants exhibit increased cellular sensitivity to gamma-irradiation or decreased incidence of induced hepatic tumors. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(4) |
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly damaging |
Het |
|
Other mutations in Ccng1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Ccng1
|
APN |
11 |
40,644,885 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01875:Ccng1
|
APN |
11 |
40,643,183 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02986:Ccng1
|
APN |
11 |
40,641,690 (GRCm39) |
utr 3 prime |
probably benign |
|
R1375:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
R1377:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
R1715:Ccng1
|
UTSW |
11 |
40,642,941 (GRCm39) |
missense |
probably benign |
0.02 |
R3620:Ccng1
|
UTSW |
11 |
40,642,992 (GRCm39) |
missense |
probably benign |
0.01 |
R3857:Ccng1
|
UTSW |
11 |
40,644,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R3858:Ccng1
|
UTSW |
11 |
40,644,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R5082:Ccng1
|
UTSW |
11 |
40,643,015 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5172:Ccng1
|
UTSW |
11 |
40,642,113 (GRCm39) |
missense |
probably benign |
|
R5521:Ccng1
|
UTSW |
11 |
40,643,093 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7431:Ccng1
|
UTSW |
11 |
40,644,745 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7961:Ccng1
|
UTSW |
11 |
40,642,096 (GRCm39) |
missense |
probably benign |
0.00 |
R8009:Ccng1
|
UTSW |
11 |
40,642,096 (GRCm39) |
missense |
probably benign |
0.00 |
R8794:Ccng1
|
UTSW |
11 |
40,644,826 (GRCm39) |
missense |
probably benign |
|
R9036:Ccng1
|
UTSW |
11 |
40,643,078 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9530:Ccng1
|
UTSW |
11 |
40,644,885 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Ccng1
|
UTSW |
11 |
40,644,871 (GRCm39) |
missense |
probably benign |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified a T to C transition at base pair 40567304 in the Genbank genomic region NC_000077 (Build 37.1) for the Ccng1 gene on Chromosome 2 (GTATGTTTAT ->GTATGCTTAT). The mutation is located within intron 1 from the ATG exon, six nucleotides from the previous exon. The Ccng1 gene contains 6 total exons. Two transcripts of the Ccng1 gene are displayed on Ensembl and Vega. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Ccng1 gene encodes the 294 amino acid cyclin G1 that may play a role in growth regulation. The protein is associated with G2/M phase arrest in response to DNA damage. P53 is thought to act through cyclin G in order to inhibit cellular proliferation (Uniprot P51945). Depending on the allele, homozygous mouse mutants exhibit increased cellular sensitivity to gamma-irradiation or decreased incidence of induced hepatic tumors.
|
Posted On |
2010-10-26 |