Incidental Mutation 'R5132:Cdc23'
ID |
395889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc23
|
Ensembl Gene |
ENSMUSG00000024370 |
Gene Name |
CDC23 cell division cycle 23 |
Synonyms |
D18Ertd243e |
MMRRC Submission |
042720-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R5132 (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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
probably benign |
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 |
|
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 |
|
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'- TAACGGTGCCCTTACCTCTG -3'
(R):5'- TGCCAATCAGGATCTAACTGTCTC -3'
Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'
|
Posted On |
2016-06-21 |