Incidental Mutation 'R4415:Cdc23'
| ID |
500612 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4415 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34764004-34784788 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
ACC to AC
at 34770371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
[ENSMUST00000167161]
[ENSMUST00000166044]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGTAGTCTCTCTTGTTGA -3'
(R):5'- ACCAATCTAAAGACGGCTTAGAAAA -3'
Sequencing Primer
(F):5'- GTTGACCTCAATGGCATGTC -3'
(R):5'- ATGCCAGATTTCATGGCACTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation