Incidental Mutation 'R5081:Cdc23'
ID |
387157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc23
|
Ensembl Gene |
ENSMUSG00000024370 |
Gene Name |
CDC23 cell division cycle 23 |
Synonyms |
D18Ertd243e |
MMRRC Submission |
042670-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R5081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34764004-34784788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34784742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 7
(V7L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000025228
AA Change: V7L
|
SMART Domains |
Protein: ENSMUSP00000025228 Gene: ENSMUSG00000024370 AA Change: V7L
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: ENSMUST00000082923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133162
|
Predicted Effect |
unknown
Transcript: ENSMUST00000133181
AA Change: V7L
|
SMART Domains |
Protein: ENSMUSP00000122420 Gene: ENSMUSG00000024370 AA Change: V7L
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: ENSMUST00000135208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151409
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
93% (65/70) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
Aig1 |
A |
G |
10: 13,677,644 (GRCm39) |
I116T |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,146,140 (GRCm39) |
|
probably null |
Het |
Ap3s1 |
T |
A |
18: 46,887,497 (GRCm39) |
D43E |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,299,059 (GRCm39) |
M2T |
possibly damaging |
Het |
Asah2 |
T |
A |
19: 31,991,708 (GRCm39) |
E451V |
probably benign |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Ass1 |
G |
A |
2: 31,378,665 (GRCm39) |
|
probably null |
Het |
Ccpg1 |
A |
G |
9: 72,906,360 (GRCm39) |
T39A |
possibly damaging |
Het |
Cd101 |
T |
A |
3: 100,911,021 (GRCm39) |
Y879F |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,272,586 (GRCm39) |
T530A |
possibly damaging |
Het |
Cep68 |
G |
T |
11: 20,188,477 (GRCm39) |
Q643K |
probably damaging |
Het |
Ces1c |
A |
G |
8: 93,854,197 (GRCm39) |
S113P |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,056,232 (GRCm39) |
I278T |
probably benign |
Het |
Col1a1 |
A |
G |
11: 94,842,402 (GRCm39) |
D1440G |
unknown |
Het |
Cspp1 |
A |
G |
1: 10,117,691 (GRCm39) |
I48V |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,664 (GRCm39) |
S85C |
possibly damaging |
Het |
Cyp39a1 |
C |
A |
17: 44,057,488 (GRCm39) |
D442E |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,868,292 (GRCm39) |
F664Y |
probably damaging |
Het |
Gpcpd1 |
A |
T |
2: 132,389,622 (GRCm39) |
H244Q |
probably benign |
Het |
Gtf3a |
T |
A |
5: 146,888,092 (GRCm39) |
V131E |
probably benign |
Het |
Gtpbp3 |
A |
T |
8: 71,943,026 (GRCm39) |
R147W |
probably damaging |
Het |
H2-Oa |
A |
T |
17: 34,313,344 (GRCm39) |
I132F |
probably damaging |
Het |
Hsd17b8 |
G |
A |
17: 34,246,552 (GRCm39) |
|
probably benign |
Het |
Idi1 |
T |
A |
13: 8,937,963 (GRCm39) |
C91* |
probably null |
Het |
Itga11 |
A |
G |
9: 62,662,478 (GRCm39) |
I484V |
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,628,694 (GRCm39) |
S101N |
probably damaging |
Het |
Larp4 |
G |
A |
15: 99,870,898 (GRCm39) |
|
probably benign |
Het |
Mink1 |
T |
C |
11: 70,495,970 (GRCm39) |
L390P |
probably damaging |
Het |
Morc1 |
T |
G |
16: 48,322,715 (GRCm39) |
S337R |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,786,026 (GRCm39) |
R1236G |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,429,396 (GRCm39) |
I138T |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,502,936 (GRCm39) |
N489S |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,617,136 (GRCm39) |
I711F |
probably benign |
Het |
Ntrk3 |
A |
G |
7: 78,227,522 (GRCm39) |
S4P |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,464,607 (GRCm39) |
T1605A |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,655 (GRCm39) |
I214V |
possibly damaging |
Het |
Or7g32 |
A |
G |
9: 19,408,557 (GRCm39) |
E171G |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,856,316 (GRCm39) |
H54R |
probably benign |
Het |
Pgm2l1 |
A |
G |
7: 99,917,472 (GRCm39) |
I530V |
probably benign |
Het |
Psmd2 |
A |
G |
16: 20,480,405 (GRCm39) |
T709A |
probably benign |
Het |
Qsox1 |
G |
T |
1: 155,688,581 (GRCm39) |
|
probably benign |
Het |
Rbm14 |
A |
G |
19: 4,852,823 (GRCm39) |
S520P |
probably benign |
Het |
Rbm15b |
G |
A |
9: 106,762,120 (GRCm39) |
R683C |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,664,876 (GRCm39) |
V69D |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,438,576 (GRCm39) |
E27G |
possibly damaging |
Het |
Scn4a |
G |
A |
11: 106,239,553 (GRCm39) |
P153L |
probably damaging |
Het |
Serpinb6d |
A |
T |
13: 33,855,230 (GRCm39) |
R301S |
probably benign |
Het |
Sf3a2 |
C |
A |
10: 80,640,275 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 4,997,767 (GRCm39) |
D400G |
probably benign |
Het |
Tenm2 |
T |
C |
11: 35,915,460 (GRCm39) |
S2025G |
possibly damaging |
Het |
Ttc16 |
A |
T |
2: 32,657,988 (GRCm39) |
D476E |
probably damaging |
Het |
Ttc9c |
A |
T |
19: 8,793,396 (GRCm39) |
C81* |
probably null |
Het |
Ulk2 |
G |
A |
11: 61,694,488 (GRCm39) |
P474L |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,722 (GRCm39) |
C104R |
probably damaging |
Het |
Vwa2 |
C |
T |
19: 56,897,752 (GRCm39) |
H686Y |
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 |
|
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 |
|
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'- TGCCCTTACCTCTGTCAGAG -3'
(R):5'- TGCCAATCAGGATCTAACTGTC -3'
Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'
|
Posted On |
2016-06-06 |