Incidental Mutation 'IGL01148:Ccng2'
| ID |
51223 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccng2
|
| Ensembl Gene |
ENSMUSG00000029385 |
| Gene Name |
cyclin G2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
93415432-93424090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93418746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 124
(D124N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031331]
[ENSMUST00000121127]
|
| AlphaFold |
O08918 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031331
AA Change: D124N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031331
Gene: ENSMUSG00000029385
AA Change: D124N
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
61 |
147 |
3.06e-15 |
SMART |
|
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121127
AA Change: D124N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113278
Gene: ENSMUSG00000029385
AA Change: D124N
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
61 |
147 |
3.06e-15 |
SMART |
|
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153260
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
T |
11: 69,781,729 (GRCm39) |
C64* |
probably null |
Het |
| Cttnbp2 |
G |
A |
6: 18,382,817 (GRCm39) |
P1317L |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,453,982 (GRCm39) |
V29E |
probably damaging |
Het |
| Exoc6b |
T |
C |
6: 84,885,208 (GRCm39) |
K244E |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,605 (GRCm39) |
F662L |
probably benign |
Het |
| Fbxl18 |
T |
C |
5: 142,871,580 (GRCm39) |
M488V |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,366 (GRCm39) |
G584D |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,869,519 (GRCm39) |
F405L |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,317,168 (GRCm39) |
K635E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,654 (GRCm39) |
Y48C |
probably damaging |
Het |
| Hddc2 |
T |
C |
10: 31,192,330 (GRCm39) |
I78T |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,273,969 (GRCm39) |
M2708K |
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,677,189 (GRCm39) |
S119P |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,925,668 (GRCm39) |
C388R |
probably damaging |
Het |
| Mymx |
G |
T |
17: 45,912,594 (GRCm39) |
|
probably benign |
Het |
| Naga |
A |
G |
15: 82,214,861 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,006 (GRCm39) |
E208G |
probably damaging |
Het |
| Nr4a2 |
C |
T |
2: 57,001,983 (GRCm39) |
V94M |
probably benign |
Het |
| Or4c124 |
G |
T |
2: 89,156,368 (GRCm39) |
T52K |
probably benign |
Het |
| Osbpl8 |
G |
T |
10: 111,112,424 (GRCm39) |
|
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,486,222 (GRCm39) |
V42D |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,623,141 (GRCm39) |
R801G |
probably benign |
Het |
| Pthlh |
G |
A |
6: 147,154,073 (GRCm39) |
T174M |
probably benign |
Het |
| Sco2 |
T |
C |
15: 89,255,924 (GRCm39) |
I243M |
probably benign |
Het |
| Sema5a |
G |
A |
15: 32,681,641 (GRCm39) |
V907M |
probably benign |
Het |
| Semp2l1 |
A |
G |
1: 32,584,735 (GRCm39) |
S392P |
possibly damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,724,253 (GRCm39) |
E309G |
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,934,387 (GRCm39) |
K106* |
probably null |
Het |
| Tas2r105 |
T |
A |
6: 131,663,815 (GRCm39) |
R204S |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,877,156 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,893,312 (GRCm39) |
I939V |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,205 (GRCm39) |
N574I |
probably damaging |
Het |
| Zfand3 |
A |
T |
17: 30,354,374 (GRCm39) |
T64S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,307,644 (GRCm39) |
H312Y |
probably benign |
Het |
|
| Other mutations in Ccng2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Ccng2
|
APN |
5 |
93,421,276 (GRCm39) |
missense |
probably null |
0.88 |
|
R0133:Ccng2
|
UTSW |
5 |
93,421,240 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0266:Ccng2
|
UTSW |
5 |
93,419,148 (GRCm39) |
splice site |
probably benign |
|
|
R0346:Ccng2
|
UTSW |
5 |
93,418,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Ccng2
|
UTSW |
5 |
93,421,272 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1087:Ccng2
|
UTSW |
5 |
93,421,303 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1373:Ccng2
|
UTSW |
5 |
93,418,914 (GRCm39) |
splice site |
probably benign |
|
|
R1696:Ccng2
|
UTSW |
5 |
93,421,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3727:Ccng2
|
UTSW |
5 |
93,422,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Ccng2
|
UTSW |
5 |
93,417,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6337:Ccng2
|
UTSW |
5 |
93,418,780 (GRCm39) |
missense |
probably benign |
|
|
R6611:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7077:Ccng2
|
UTSW |
5 |
93,417,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7140:Ccng2
|
UTSW |
5 |
93,416,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7161:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7193:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7233:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7235:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7269:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7270:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7271:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7567:Ccng2
|
UTSW |
5 |
93,418,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7614:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7658:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7744:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7745:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7874:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7875:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7877:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7884:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8053:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8279:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8282:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8492:Ccng2
|
UTSW |
5 |
93,419,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8504:Ccng2
|
UTSW |
5 |
93,421,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8528:Ccng2
|
UTSW |
5 |
93,417,164 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9010:Ccng2
|
UTSW |
5 |
93,416,616 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation