Incidental Mutation 'IGL00480:Cdc6'
| ID |
4504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc6
|
| Ensembl Gene |
ENSMUSG00000017499 |
| Gene Name |
cell division cycle 6 |
| Synonyms |
CDC18(S.pombe), CDC18L, cell division cycle 18 homolog (S.pombe)-like |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL00480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98798627-98814766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98799597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 68
(V68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037480]
[ENSMUST00000092706]
[ENSMUST00000093937]
[ENSMUST00000133779]
|
| AlphaFold |
O89033 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037480
|
| SMART Domains |
Protein: ENSMUSP00000046991
Gene: ENSMUSG00000038013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
WH2
|
36 |
53 |
2.81e-4 |
SMART |
|
low complexity region
|
69 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092706
AA Change: V41A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000090382
Gene: ENSMUSG00000017499
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CCI|I
|
74 |
101 |
3e-6 |
PDB |
|
AAA
|
196 |
349 |
2.75e-5 |
SMART |
|
Cdc6_C
|
467 |
547 |
7.14e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093937
AA Change: V68A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091469
Gene: ENSMUSG00000017499
AA Change: V68A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CCI|I
|
102 |
128 |
1e-5 |
PDB |
|
AAA
|
223 |
376 |
2.75e-5 |
SMART |
|
Cdc6_C
|
494 |
574 |
7.14e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133779
AA Change: V41A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118421
Gene: ENSMUSG00000017499
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CCI|I
|
74 |
101 |
2e-6 |
PDB |
|
AAA
|
196 |
348 |
4.17e-5 |
SMART |
|
| 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 is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Ceacam23 |
T |
A |
7: 17,644,622 (GRCm39) |
S580T |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Gtf3c1 |
C |
T |
7: 125,243,430 (GRCm39) |
V1821I |
probably benign |
Het |
| Haus3 |
T |
C |
5: 34,325,272 (GRCm39) |
E129G |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,235,355 (GRCm39) |
|
probably benign |
Het |
| Pabpc1l |
G |
A |
2: 163,884,237 (GRCm39) |
V325M |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,477,928 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,195 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,149,452 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,346,604 (GRCm39) |
P1016Q |
possibly damaging |
Het |
| Selenot |
T |
A |
3: 58,493,503 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
C |
T |
1: 189,632,043 (GRCm39) |
R107Q |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,593,073 (GRCm39) |
K136E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,912,829 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,225,303 (GRCm39) |
I645T |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,051,172 (GRCm39) |
M12K |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,115 (GRCm39) |
N192S |
probably benign |
Het |
|
| Other mutations in Cdc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Cdc6
|
APN |
11 |
98,805,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02202:Cdc6
|
APN |
11 |
98,811,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03090:Cdc6
|
APN |
11 |
98,810,122 (GRCm39) |
nonsense |
probably null |
|
|
R1482:Cdc6
|
UTSW |
11 |
98,807,807 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1559:Cdc6
|
UTSW |
11 |
98,803,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Cdc6
|
UTSW |
11 |
98,803,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Cdc6
|
UTSW |
11 |
98,801,287 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2183:Cdc6
|
UTSW |
11 |
98,799,524 (GRCm39) |
nonsense |
probably null |
|
|
R2356:Cdc6
|
UTSW |
11 |
98,810,118 (GRCm39) |
missense |
probably benign |
|
|
R2938:Cdc6
|
UTSW |
11 |
98,801,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Cdc6
|
UTSW |
11 |
98,799,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5279:Cdc6
|
UTSW |
11 |
98,803,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Cdc6
|
UTSW |
11 |
98,811,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6514:Cdc6
|
UTSW |
11 |
98,810,118 (GRCm39) |
missense |
probably benign |
|
|
R7088:Cdc6
|
UTSW |
11 |
98,810,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Cdc6
|
UTSW |
11 |
98,799,042 (GRCm39) |
intron |
probably benign |
|
|
R7662:Cdc6
|
UTSW |
11 |
98,807,836 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7662:Cdc6
|
UTSW |
11 |
98,801,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7677:Cdc6
|
UTSW |
11 |
98,810,191 (GRCm39) |
nonsense |
probably null |
|
|
R9130:Cdc6
|
UTSW |
11 |
98,802,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Cdc6
|
UTSW |
11 |
98,801,201 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2012-04-20 |
Incidental Mutation