Incidental Mutation 'R4988:Cdc27'
| ID |
385965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc27
|
| Ensembl Gene |
ENSMUSG00000020687 |
| Gene Name |
cell division cycle 27 |
| Synonyms |
APC3 |
| MMRRC Submission |
042582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104393571-104441446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104416950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 334
(S334P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093923]
[ENSMUST00000106961]
[ENSMUST00000106962]
|
| AlphaFold |
A2A6Q5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093923
AA Change: S334P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: S334P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apc3
|
17 |
95 |
2.2e-23 |
PFAM |
|
TPR
|
115 |
148 |
4.45e-2 |
SMART |
|
low complexity region
|
349 |
362 |
N/A |
INTRINSIC |
|
TPR
|
500 |
533 |
1.33e1 |
SMART |
|
TPR
|
568 |
601 |
2.91e-6 |
SMART |
|
TPR
|
602 |
635 |
7.06e-5 |
SMART |
|
TPR
|
636 |
669 |
3.96e-8 |
SMART |
|
TPR
|
670 |
703 |
7.45e-4 |
SMART |
|
TPR
|
704 |
737 |
6.92e1 |
SMART |
|
TPR
|
738 |
771 |
1.17e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106961
AA Change: S340P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102574
Gene: ENSMUSG00000020687
AA Change: S340P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apc3
|
17 |
95 |
1.9e-23 |
PFAM |
|
Pfam:TPR_2
|
115 |
148 |
9.2e-5 |
PFAM |
|
Pfam:TPR_1
|
116 |
148 |
9.1e-5 |
PFAM |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106962
AA Change: S340P
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: S340P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANAPC3
|
17 |
94 |
7.7e-25 |
PFAM |
|
TPR
|
115 |
148 |
4.45e-2 |
SMART |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
TPR
|
506 |
539 |
1.33e1 |
SMART |
|
TPR
|
574 |
607 |
2.91e-6 |
SMART |
|
TPR
|
608 |
641 |
7.06e-5 |
SMART |
|
TPR
|
642 |
675 |
3.96e-8 |
SMART |
|
TPR
|
676 |
709 |
7.45e-4 |
SMART |
|
TPR
|
710 |
743 |
6.92e1 |
SMART |
|
TPR
|
744 |
777 |
1.17e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (58/58) |
| 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 protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
G |
A |
1: 130,670,447 (GRCm39) |
G223E |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,154,236 (GRCm39) |
N110S |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,154,121 (GRCm39) |
H947Q |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,380,276 (GRCm39) |
M2202T |
probably damaging |
Het |
| Amy2b |
T |
C |
3: 113,058,550 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef4 |
A |
T |
1: 34,762,535 (GRCm39) |
H597L |
unknown |
Het |
| Asgr2 |
A |
G |
11: 69,988,665 (GRCm39) |
I119M |
probably benign |
Het |
| Casc3 |
T |
G |
11: 98,712,700 (GRCm39) |
|
probably null |
Het |
| Cbr1b |
A |
G |
16: 93,426,884 (GRCm39) |
T162A |
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,872,013 (GRCm39) |
M239K |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,827,336 (GRCm39) |
E476G |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,144,827 (GRCm39) |
M1K |
probably null |
Het |
| Col9a1 |
T |
C |
1: 24,224,273 (GRCm39) |
S152P |
unknown |
Het |
| Cpd |
A |
G |
11: 76,705,656 (GRCm39) |
S359P |
probably damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,847,854 (GRCm39) |
L95* |
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,558,827 (GRCm39) |
D1044G |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,028,078 (GRCm39) |
S418P |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,870,668 (GRCm39) |
D59G |
probably benign |
Het |
| Fam210a |
G |
A |
18: 68,409,218 (GRCm39) |
R31C |
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,513,019 (GRCm39) |
T792A |
probably damaging |
Het |
| Fmc1 |
A |
T |
6: 38,511,917 (GRCm39) |
Y37F |
probably benign |
Het |
| Gm10717 |
T |
A |
9: 3,026,368 (GRCm39) |
L72M |
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,320,067 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4553 |
G |
A |
7: 141,718,729 (GRCm39) |
|
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,768,577 (GRCm39) |
T33A |
possibly damaging |
Het |
| Hhat |
A |
T |
1: 192,339,602 (GRCm39) |
|
probably benign |
Het |
| Hint2 |
T |
C |
4: 43,654,953 (GRCm39) |
I59V |
possibly damaging |
Het |
| Hps4 |
C |
T |
5: 112,526,019 (GRCm39) |
|
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,246,262 (GRCm39) |
F137S |
probably damaging |
Het |
| Klrc2 |
A |
T |
6: 129,633,426 (GRCm39) |
C192S |
probably benign |
Het |
| Map1a |
C |
T |
2: 121,133,531 (GRCm39) |
T1211I |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,537,578 (GRCm39) |
N46S |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,736,347 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,458,266 (GRCm39) |
S1258P |
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,836,005 (GRCm39) |
G426D |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,554,905 (GRCm39) |
E327G |
possibly damaging |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or10s1 |
G |
A |
9: 39,985,961 (GRCm39) |
M123I |
probably damaging |
Het |
| Or1j18 |
T |
C |
2: 36,624,996 (GRCm39) |
I221T |
possibly damaging |
Het |
| Or2m13 |
A |
T |
16: 19,225,860 (GRCm39) |
M302K |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,930 (GRCm39) |
|
probably null |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,855 (GRCm39) |
A696T |
probably damaging |
Het |
| Polm |
C |
A |
11: 5,787,618 (GRCm39) |
R45L |
probably damaging |
Het |
| Pon3 |
G |
A |
6: 5,254,582 (GRCm39) |
R27* |
probably null |
Het |
| Proser1 |
T |
C |
3: 53,387,046 (GRCm39) |
I845T |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,870 (GRCm39) |
N406D |
possibly damaging |
Het |
| Skint10 |
A |
T |
4: 112,586,069 (GRCm39) |
C182* |
probably null |
Het |
| Slc6a19 |
C |
T |
13: 73,833,959 (GRCm39) |
W366* |
probably null |
Het |
| St7 |
T |
C |
6: 17,934,225 (GRCm39) |
F470L |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,522 (GRCm39) |
Y322F |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,975,814 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,435,723 (GRCm39) |
H1811L |
probably benign |
Het |
| Zfp14 |
G |
A |
7: 29,737,482 (GRCm39) |
T501I |
probably benign |
Het |
|
| Other mutations in Cdc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Cdc27
|
APN |
11 |
104,412,258 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00673:Cdc27
|
APN |
11 |
104,419,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00949:Cdc27
|
APN |
11 |
104,420,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Cdc27
|
APN |
11 |
104,398,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01894:Cdc27
|
APN |
11 |
104,417,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02096:Cdc27
|
APN |
11 |
104,419,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL02124:Cdc27
|
APN |
11 |
104,413,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02444:Cdc27
|
APN |
11 |
104,413,542 (GRCm39) |
splice site |
probably benign |
|
|
IGL02589:Cdc27
|
APN |
11 |
104,396,470 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02851:Cdc27
|
APN |
11 |
104,417,807 (GRCm39) |
splice site |
probably benign |
|
|
IGL02861:Cdc27
|
APN |
11 |
104,413,657 (GRCm39) |
splice site |
probably benign |
|
|
IGL02952:Cdc27
|
APN |
11 |
104,408,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03103:Cdc27
|
APN |
11 |
104,403,806 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0344:Cdc27
|
UTSW |
11 |
104,417,817 (GRCm39) |
splice site |
probably benign |
|
|
R0365:Cdc27
|
UTSW |
11 |
104,419,250 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0366:Cdc27
|
UTSW |
11 |
104,396,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0426:Cdc27
|
UTSW |
11 |
104,403,853 (GRCm39) |
splice site |
probably null |
|
|
R0505:Cdc27
|
UTSW |
11 |
104,419,114 (GRCm39) |
missense |
probably benign |
|
|
R0639:Cdc27
|
UTSW |
11 |
104,422,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Cdc27
|
UTSW |
11 |
104,416,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0927:Cdc27
|
UTSW |
11 |
104,396,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1414:Cdc27
|
UTSW |
11 |
104,412,251 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1765:Cdc27
|
UTSW |
11 |
104,425,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Cdc27
|
UTSW |
11 |
104,413,648 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2449:Cdc27
|
UTSW |
11 |
104,396,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3404:Cdc27
|
UTSW |
11 |
104,398,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Cdc27
|
UTSW |
11 |
104,398,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3406:Cdc27
|
UTSW |
11 |
104,398,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Cdc27
|
UTSW |
11 |
104,406,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4037:Cdc27
|
UTSW |
11 |
104,398,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Cdc27
|
UTSW |
11 |
104,425,640 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4451:Cdc27
|
UTSW |
11 |
104,408,221 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4452:Cdc27
|
UTSW |
11 |
104,408,221 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4530:Cdc27
|
UTSW |
11 |
104,419,252 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4956:Cdc27
|
UTSW |
11 |
104,420,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5098:Cdc27
|
UTSW |
11 |
104,398,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Cdc27
|
UTSW |
11 |
104,425,600 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5384:Cdc27
|
UTSW |
11 |
104,397,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5876:Cdc27
|
UTSW |
11 |
104,406,244 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6238:Cdc27
|
UTSW |
11 |
104,419,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Cdc27
|
UTSW |
11 |
104,419,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Cdc27
|
UTSW |
11 |
104,425,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Cdc27
|
UTSW |
11 |
104,413,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6485:Cdc27
|
UTSW |
11 |
104,396,474 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7237:Cdc27
|
UTSW |
11 |
104,408,245 (GRCm39) |
missense |
probably benign |
|
|
R7315:Cdc27
|
UTSW |
11 |
104,406,270 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7534:Cdc27
|
UTSW |
11 |
104,399,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Cdc27
|
UTSW |
11 |
104,403,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8150:Cdc27
|
UTSW |
11 |
104,406,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Cdc27
|
UTSW |
11 |
104,408,317 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8935:Cdc27
|
UTSW |
11 |
104,398,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Cdc27
|
UTSW |
11 |
104,399,211 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9336:Cdc27
|
UTSW |
11 |
104,396,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTATGTGTACTTGCTCTGAAGG -3'
(R):5'- TTATCGTTTAGGAAGGGAGCAG -3'
Sequencing Primer
(F):5'- GCTCTGAAGGTTAAGTGTCTATGAAC -3'
(R):5'- AGCAGGCGGACTCTTTTTAATC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation