Incidental Mutation 'R5110:Cdc23'
ID |
393830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc23
|
Ensembl Gene |
ENSMUSG00000024370 |
Gene Name |
CDC23 cell division cycle 23 |
Synonyms |
D18Ertd243e |
MMRRC Submission |
042698-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
R5110 (G1)
|
Quality Score |
163 |
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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
100% (61/61) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
C |
A |
9: 124,057,987 (GRCm39) |
|
probably null |
Het |
2310016G11Rik |
G |
A |
7: 44,327,286 (GRCm39) |
|
noncoding transcript |
Het |
Abi2 |
G |
A |
1: 60,489,280 (GRCm39) |
V98I |
probably benign |
Het |
Adam21 |
T |
C |
12: 81,606,989 (GRCm39) |
T258A |
probably benign |
Het |
Adam33 |
A |
T |
2: 130,895,690 (GRCm39) |
C542S |
probably damaging |
Het |
Adamts15 |
A |
G |
9: 30,832,740 (GRCm39) |
V265A |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,992,123 (GRCm39) |
D4469V |
probably damaging |
Het |
Aicda |
A |
G |
6: 122,538,144 (GRCm39) |
N101D |
probably benign |
Het |
Als2 |
A |
T |
1: 59,224,600 (GRCm39) |
D1040E |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,653,211 (GRCm39) |
R319G |
possibly damaging |
Het |
Col1a1 |
T |
C |
11: 94,832,419 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
G |
3: 130,378,374 (GRCm39) |
*594W |
probably null |
Het |
Cwf19l2 |
A |
G |
9: 3,450,012 (GRCm39) |
|
probably null |
Het |
Dctn4 |
C |
T |
18: 60,679,387 (GRCm39) |
P236S |
probably damaging |
Het |
Dennd2b |
A |
G |
7: 109,141,697 (GRCm39) |
S556P |
probably benign |
Het |
Ehmt1 |
C |
A |
2: 24,742,802 (GRCm39) |
C459F |
probably benign |
Het |
Enox1 |
T |
C |
14: 77,945,127 (GRCm39) |
|
probably null |
Het |
Fam136b-ps |
A |
G |
15: 31,276,856 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
T |
C |
5: 4,806,448 (GRCm39) |
D378G |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,438,336 (GRCm39) |
R17Q |
probably benign |
Het |
Hk1 |
A |
T |
10: 62,122,430 (GRCm39) |
Y422N |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,999,427 (GRCm39) |
D255G |
probably benign |
Het |
Ift81 |
A |
G |
5: 122,689,121 (GRCm39) |
V665A |
probably benign |
Het |
Igkv13-84 |
T |
C |
6: 68,916,592 (GRCm39) |
F3L |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,020,055 (GRCm39) |
S433R |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,941,744 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
A |
T |
2: 91,327,417 (GRCm39) |
D1471V |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,261,801 (GRCm39) |
D6990E |
probably damaging |
Het |
Map3k6 |
G |
A |
4: 132,974,859 (GRCm39) |
|
probably benign |
Het |
Miox |
T |
A |
15: 89,219,759 (GRCm39) |
D82E |
probably benign |
Het |
Or4n5 |
T |
G |
14: 50,133,032 (GRCm39) |
I76L |
possibly damaging |
Het |
Ovgp1 |
G |
C |
3: 105,885,099 (GRCm39) |
R133P |
probably damaging |
Het |
Per2 |
G |
A |
1: 91,357,237 (GRCm39) |
T642I |
possibly damaging |
Het |
Pparg |
T |
C |
6: 115,449,964 (GRCm39) |
V321A |
probably damaging |
Het |
Pptc7 |
T |
A |
5: 122,446,312 (GRCm39) |
N17K |
probably benign |
Het |
Prpf19 |
T |
C |
19: 10,876,651 (GRCm39) |
|
probably benign |
Het |
Rai14 |
T |
C |
15: 10,690,496 (GRCm39) |
|
probably benign |
Het |
Sardh |
T |
C |
2: 27,079,559 (GRCm39) |
D911G |
probably benign |
Het |
Sbf2 |
T |
A |
7: 109,963,864 (GRCm39) |
T994S |
probably benign |
Het |
Slc1a1 |
G |
A |
19: 28,889,208 (GRCm39) |
E494K |
probably benign |
Het |
Smarcc1 |
A |
G |
9: 110,026,852 (GRCm39) |
K771E |
possibly damaging |
Het |
Stim1 |
T |
C |
7: 101,917,629 (GRCm39) |
V3A |
unknown |
Het |
Syne3 |
G |
A |
12: 104,909,629 (GRCm39) |
R736C |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,087,990 (GRCm39) |
V986A |
probably benign |
Het |
Tinag |
A |
G |
9: 76,859,289 (GRCm39) |
S440P |
probably damaging |
Het |
Tshz2 |
A |
G |
2: 169,726,117 (GRCm39) |
T238A |
possibly damaging |
Het |
Ttc8 |
T |
C |
12: 98,908,562 (GRCm39) |
M17T |
probably benign |
Het |
Tubgcp5 |
G |
A |
7: 55,458,385 (GRCm39) |
R432Q |
probably damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,974 (GRCm39) |
|
probably null |
Het |
Usp4 |
T |
A |
9: 108,239,877 (GRCm39) |
I202N |
probably damaging |
Het |
Vmn1r194 |
T |
G |
13: 22,429,170 (GRCm39) |
S262R |
probably benign |
Het |
Vmn2r101 |
T |
C |
17: 19,831,897 (GRCm39) |
F631S |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,770,955 (GRCm39) |
S2133T |
probably damaging |
Het |
Zfp13 |
C |
A |
17: 23,799,834 (GRCm39) |
V77F |
probably benign |
Het |
Zscan10 |
T |
A |
17: 23,828,606 (GRCm39) |
C306S |
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 |
|
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 |
|
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'- TGCCAATCAGGATCTAACTGTCTC -3'
Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'
|
Posted On |
2016-06-15 |