Incidental Mutation 'R5122:Cdc23'
| ID |
393375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc23
|
| Ensembl Gene |
ENSMUSG00000024370 |
| Gene Name |
CDC23 cell division cycle 23 |
| Synonyms |
D18Ertd243e |
| MMRRC Submission |
042710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5122 (G1)
|
| Quality Score |
218 |
|
Status
|
Not 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,750,409 (GRCm39) |
S1727P |
probably damaging |
Het |
| Actr8 |
A |
T |
14: 29,704,672 (GRCm39) |
K57N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,906 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
A |
G |
5: 97,234,874 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
G |
19: 29,357,965 (GRCm39) |
H219R |
possibly damaging |
Het |
| Cdc16 |
A |
T |
8: 13,814,570 (GRCm39) |
Y118F |
probably damaging |
Het |
| Chchd3 |
T |
C |
6: 32,945,240 (GRCm39) |
R89G |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,343,474 (GRCm39) |
V658M |
probably damaging |
Het |
| Cpt1b |
A |
G |
15: 89,308,226 (GRCm39) |
S160P |
probably benign |
Het |
| Crym |
T |
C |
7: 119,794,718 (GRCm39) |
N167S |
probably benign |
Het |
| Dhx16 |
T |
A |
17: 36,194,202 (GRCm39) |
Y438N |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,439,155 (GRCm39) |
R536G |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,061,454 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,596,114 (GRCm39) |
G1547D |
probably damaging |
Het |
| Eml3 |
T |
A |
19: 8,915,060 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,816,036 (GRCm39) |
P2799S |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,590,338 (GRCm39) |
V30A |
probably benign |
Het |
| Fam53b |
T |
A |
7: 132,380,991 (GRCm39) |
|
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,293,081 (GRCm39) |
K246R |
probably benign |
Het |
| Focad |
G |
A |
4: 88,325,602 (GRCm39) |
|
probably null |
Het |
| Glipr1l2 |
T |
C |
10: 111,942,961 (GRCm39) |
I272T |
possibly damaging |
Het |
| Gm8104 |
A |
G |
14: 42,966,550 (GRCm39) |
I101V |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,724,028 (GRCm39) |
I773V |
probably damaging |
Het |
| Hyal1 |
A |
T |
9: 107,455,268 (GRCm39) |
T193S |
probably benign |
Het |
| Igkv10-94 |
C |
A |
6: 68,681,655 (GRCm39) |
G62* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,690,732 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,644,804 (GRCm39) |
S983P |
probably damaging |
Het |
| Krtap16-1 |
C |
A |
11: 99,876,523 (GRCm39) |
V294F |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,672,823 (GRCm39) |
V866G |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,256,461 (GRCm39) |
R1268* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,023,314 (GRCm39) |
V984I |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,346,085 (GRCm39) |
V4136G |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,670,593 (GRCm39) |
E419D |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,324,518 (GRCm39) |
Y473C |
probably damaging |
Het |
| Nod2 |
G |
T |
8: 89,390,748 (GRCm39) |
D330Y |
probably damaging |
Het |
| Nt5c2 |
C |
T |
19: 46,878,360 (GRCm39) |
C458Y |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,662,976 (GRCm39) |
I681T |
probably damaging |
Het |
| Or10a5 |
C |
A |
7: 106,636,055 (GRCm39) |
S231* |
probably null |
Het |
| Papolg |
C |
T |
11: 23,817,501 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,472,311 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,880,598 (GRCm39) |
F42S |
probably damaging |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pofut2 |
G |
C |
10: 77,104,399 (GRCm39) |
R392P |
probably damaging |
Het |
| Prpf18 |
T |
C |
2: 4,648,520 (GRCm39) |
D102G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,744 (GRCm39) |
I701N |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,052,194 (GRCm39) |
K45R |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,032 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,198,106 (GRCm39) |
M723L |
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,819,141 (GRCm39) |
S47P |
probably benign |
Het |
| Sra1 |
T |
C |
18: 36,800,647 (GRCm39) |
T187A |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,815,717 (GRCm39) |
N27K |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,963,172 (GRCm39) |
Y295N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,000,306 (GRCm39) |
V353A |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,718,749 (GRCm39) |
T2991S |
possibly damaging |
Het |
| Urb1 |
G |
A |
16: 90,548,983 (GRCm39) |
R2242* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,998,697 (GRCm39) |
N20S |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
|
|
R5110:Cdc23
|
UTSW |
18 |
34,784,742 (GRCm39) |
missense |
unknown |
|
|
R5111: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'- TAACGGTGCCCTTACCTCTG -3'
(R):5'- GCCAATCAGGATCTAACTGTCTC -3'
Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation