Incidental Mutation 'IGL01302:Cdc23'
ID |
73287 |
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: 0.963)
|
Stock # |
IGL01302
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
34764004-34784788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 34767697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 483
(S483A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
[ENSMUST00000166044]
[ENSMUST00000167161]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025228
AA Change: S483A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000025228 Gene: ENSMUSG00000024370 AA Change: S483A
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
AA Change: S483A
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122420 Gene: ENSMUSG00000024370 AA Change: S483A
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: ENSMUST00000136949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155307
|
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 |
|
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,470 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,881,935 (GRCm39) |
D598V |
probably damaging |
Het |
Adss1 |
T |
C |
12: 112,601,170 (GRCm39) |
|
probably benign |
Het |
Akap9 |
T |
A |
5: 4,020,711 (GRCm39) |
S1141T |
probably benign |
Het |
Avil |
T |
C |
10: 126,852,903 (GRCm39) |
|
probably null |
Het |
Avl9 |
C |
A |
6: 56,702,075 (GRCm39) |
H77N |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,319,653 (GRCm39) |
V1349A |
probably damaging |
Het |
Cep192 |
C |
T |
18: 67,991,974 (GRCm39) |
P1951S |
probably benign |
Het |
Cp |
A |
G |
3: 20,020,531 (GRCm39) |
T175A |
probably damaging |
Het |
Dubr |
A |
C |
16: 50,552,998 (GRCm39) |
|
noncoding transcript |
Het |
Eif4g2 |
G |
T |
7: 110,673,920 (GRCm39) |
Q695K |
possibly damaging |
Het |
Endod1 |
A |
T |
9: 14,268,535 (GRCm39) |
S317T |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,889,914 (GRCm39) |
T450A |
probably benign |
Het |
Erc1 |
A |
C |
6: 119,699,264 (GRCm39) |
V790G |
probably damaging |
Het |
Fam222a |
T |
A |
5: 114,732,514 (GRCm39) |
L23Q |
possibly damaging |
Het |
Fancf |
A |
G |
7: 51,511,035 (GRCm39) |
V323A |
probably benign |
Het |
Grik2 |
T |
A |
10: 49,120,426 (GRCm39) |
Q621L |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 38,040,380 (GRCm39) |
R319L |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,718,923 (GRCm39) |
Y297C |
probably damaging |
Het |
Katnal2 |
T |
C |
18: 77,134,863 (GRCm39) |
|
probably benign |
Het |
Lrba |
G |
T |
3: 86,202,707 (GRCm39) |
C289F |
probably damaging |
Het |
Mos |
T |
C |
4: 3,871,815 (GRCm39) |
|
probably benign |
Het |
Mycn |
T |
C |
12: 12,987,587 (GRCm39) |
D270G |
possibly damaging |
Het |
Or52e15 |
A |
T |
7: 104,645,928 (GRCm39) |
M61K |
probably damaging |
Het |
Or6c207 |
T |
A |
10: 129,104,392 (GRCm39) |
I267F |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,013 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,786,803 (GRCm39) |
D14G |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,717 (GRCm39) |
D106V |
possibly damaging |
Het |
Prdm9 |
G |
T |
17: 15,773,608 (GRCm39) |
H263N |
probably benign |
Het |
Psd4 |
T |
A |
2: 24,286,799 (GRCm39) |
|
probably null |
Het |
Ptprc |
G |
A |
1: 138,027,369 (GRCm39) |
T493I |
possibly damaging |
Het |
Rbbp8 |
T |
A |
18: 11,855,036 (GRCm39) |
S420R |
probably benign |
Het |
Sap30bp |
A |
G |
11: 115,853,373 (GRCm39) |
T219A |
probably damaging |
Het |
Shld2 |
C |
T |
14: 33,981,684 (GRCm39) |
V485I |
probably benign |
Het |
Slc2a7 |
T |
A |
4: 150,242,021 (GRCm39) |
L200Q |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,335,299 (GRCm39) |
|
probably null |
Het |
Tatdn2 |
T |
A |
6: 113,680,985 (GRCm39) |
|
probably benign |
Het |
Thrb |
A |
G |
14: 18,011,056 (GRCm38) |
|
probably benign |
Het |
Timp4 |
T |
C |
6: 115,223,269 (GRCm39) |
Y218C |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,802,313 (GRCm39) |
D525G |
probably benign |
Het |
Usp32 |
G |
T |
11: 84,879,308 (GRCm39) |
T1467N |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,564,569 (GRCm39) |
I5V |
unknown |
Het |
Zbtb43 |
T |
C |
2: 33,344,103 (GRCm39) |
H374R |
probably benign |
Het |
Zfhx4 |
C |
A |
3: 5,308,628 (GRCm39) |
T618K |
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 |
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 |
IGL03086:Cdc23
|
APN |
18 |
34,770,239 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-10-07 |