Incidental Mutation 'IGL03086:Cdc23'
ID |
418120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdc23
|
Ensembl Gene |
ENSMUSG00000024370 |
Gene Name |
CDC23 cell division cycle 23 |
Synonyms |
D18Ertd243e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
IGL03086
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
34764004-34784788 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to C
at 34770239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
[ENSMUST00000167161]
[ENSMUST00000166044]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025228
|
SMART Domains |
Protein: ENSMUSP00000025228 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
Pfam:APC8
|
22 |
152 |
1.9e-42 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133181
|
SMART Domains |
Protein: ENSMUSP00000122420 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
Pfam:ANAPC8
|
28 |
151 |
6.9e-31 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136943
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167161
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166044
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
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 shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
Cd300c2 |
T |
C |
11: 114,891,649 (GRCm39) |
E75G |
possibly damaging |
Het |
Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
Eif2a |
A |
G |
3: 58,448,538 (GRCm39) |
I124V |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
Ndc80 |
G |
A |
17: 71,827,920 (GRCm39) |
T104I |
probably benign |
Het |
Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
Sirpb1a |
C |
A |
3: 15,491,388 (GRCm39) |
|
probably null |
Het |
Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
Utp18 |
T |
C |
11: 93,766,882 (GRCm39) |
Q275R |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
probably damaging |
Het |
|
Other mutations in Cdc23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01140:Cdc23
|
APN |
18 |
34,769,385 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01302:Cdc23
|
APN |
18 |
34,767,697 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01859:Cdc23
|
APN |
18 |
34,784,459 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02307:Cdc23
|
APN |
18 |
34,774,442 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03081:Cdc23
|
APN |
18 |
34,769,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03089:Cdc23
|
APN |
18 |
34,767,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03249:Cdc23
|
APN |
18 |
34,777,069 (GRCm39) |
splice site |
probably benign |
|
R0217:Cdc23
|
UTSW |
18 |
34,784,718 (GRCm39) |
missense |
unknown |
|
R0790:Cdc23
|
UTSW |
18 |
34,784,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1593:Cdc23
|
UTSW |
18 |
34,769,379 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2929:Cdc23
|
UTSW |
18 |
34,770,371 (GRCm39) |
frame shift |
probably null |
|
R2930:Cdc23
|
UTSW |
18 |
34,770,371 (GRCm39) |
frame shift |
probably null |
|
R3963:Cdc23
|
UTSW |
18 |
34,779,972 (GRCm39) |
missense |
probably benign |
0.01 |
R3983:Cdc23
|
UTSW |
18 |
34,770,539 (GRCm39) |
unclassified |
probably benign |
|
R4245:Cdc23
|
UTSW |
18 |
34,770,100 (GRCm39) |
unclassified |
probably benign |
|
R4415:Cdc23
|
UTSW |
18 |
34,770,371 (GRCm39) |
frame shift |
probably null |
|
R4417:Cdc23
|
UTSW |
18 |
34,770,371 (GRCm39) |
frame shift |
probably null |
|
R4992:Cdc23
|
UTSW |
18 |
34,779,972 (GRCm39) |
missense |
probably benign |
|
R5037:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5071:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5072:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5073:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5074:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5081:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5082:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5083:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5110:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5111:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5122:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5131:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5132:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R5166:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
R7186:Cdc23
|
UTSW |
18 |
34,770,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R7359:Cdc23
|
UTSW |
18 |
34,774,394 (GRCm39) |
missense |
probably benign |
0.40 |
R7732:Cdc23
|
UTSW |
18 |
34,769,755 (GRCm39) |
critical splice donor site |
probably null |
|
R7832:Cdc23
|
UTSW |
18 |
34,780,072 (GRCm39) |
missense |
probably benign |
0.11 |
R8031:Cdc23
|
UTSW |
18 |
34,784,741 (GRCm39) |
missense |
unknown |
|
R8185:Cdc23
|
UTSW |
18 |
34,774,197 (GRCm39) |
missense |
probably benign |
0.00 |
R8345:Cdc23
|
UTSW |
18 |
34,767,150 (GRCm39) |
missense |
probably benign |
0.17 |
R8716:Cdc23
|
UTSW |
18 |
34,784,735 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2016-08-02 |