Incidental Mutation 'IGL03389:Cdc16'
| ID |
420992 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc16
|
| Ensembl Gene |
ENSMUSG00000038416 |
| Gene Name |
CDC16 cell division cycle 16 |
| Synonyms |
2700071J12Rik, 2810431D22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL03389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13807676-13831938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13809179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 48
(Y48C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043962]
[ENSMUST00000130173]
[ENSMUST00000134645]
|
| AlphaFold |
Q8R349 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043962
AA Change: Y48C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: Y48C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_9
|
11 |
63 |
1.8e-3 |
PFAM |
|
Pfam:ANAPC3
|
15 |
95 |
3.5e-23 |
PFAM |
|
TPR
|
130 |
163 |
1.17e1 |
SMART |
|
Blast:TPR
|
299 |
333 |
2e-8 |
BLAST |
|
Blast:TPR
|
334 |
367 |
1e-14 |
BLAST |
|
TPR
|
368 |
401 |
1.48e1 |
SMART |
|
Blast:TPR
|
402 |
435 |
7e-15 |
BLAST |
|
TPR
|
445 |
478 |
6.68e-6 |
SMART |
|
TPR
|
479 |
512 |
1.74e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134645
|
| Coding Region Coverage |
|
| 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 functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
| Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
| Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
| Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
| Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
| Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
| Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
| Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
| Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
Het |
|
| Other mutations in Cdc16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Cdc16
|
APN |
8 |
13,817,575 (GRCm39) |
nonsense |
probably null |
|
|
IGL01109:Cdc16
|
APN |
8 |
13,814,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Cdc16
|
APN |
8 |
13,831,542 (GRCm39) |
missense |
probably benign |
|
|
IGL02729:Cdc16
|
APN |
8 |
13,829,250 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0026:Cdc16
|
UTSW |
8 |
13,809,130 (GRCm39) |
splice site |
probably null |
|
|
R0373:Cdc16
|
UTSW |
8 |
13,829,264 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0520:Cdc16
|
UTSW |
8 |
13,810,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0564:Cdc16
|
UTSW |
8 |
13,831,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Cdc16
|
UTSW |
8 |
13,808,992 (GRCm39) |
splice site |
probably benign |
|
|
R1487:Cdc16
|
UTSW |
8 |
13,821,445 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1753:Cdc16
|
UTSW |
8 |
13,814,688 (GRCm39) |
nonsense |
probably null |
|
|
R1883:Cdc16
|
UTSW |
8 |
13,825,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3087:Cdc16
|
UTSW |
8 |
13,809,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3418:Cdc16
|
UTSW |
8 |
13,819,489 (GRCm39) |
nonsense |
probably null |
|
|
R3756:Cdc16
|
UTSW |
8 |
13,827,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4152:Cdc16
|
UTSW |
8 |
13,812,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Cdc16
|
UTSW |
8 |
13,831,644 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5122:Cdc16
|
UTSW |
8 |
13,814,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5492:Cdc16
|
UTSW |
8 |
13,813,915 (GRCm39) |
splice site |
probably null |
|
|
R5982:Cdc16
|
UTSW |
8 |
13,831,399 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6145:Cdc16
|
UTSW |
8 |
13,817,573 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6154:Cdc16
|
UTSW |
8 |
13,818,609 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6611:Cdc16
|
UTSW |
8 |
13,831,512 (GRCm39) |
missense |
probably benign |
|
|
R6992:Cdc16
|
UTSW |
8 |
13,809,188 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7011:Cdc16
|
UTSW |
8 |
13,819,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Cdc16
|
UTSW |
8 |
13,827,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7593:Cdc16
|
UTSW |
8 |
13,827,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7946:Cdc16
|
UTSW |
8 |
13,812,882 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9019:Cdc16
|
UTSW |
8 |
13,831,501 (GRCm39) |
missense |
probably benign |
|
|
R9655:Cdc16
|
UTSW |
8 |
13,809,153 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9668:Cdc16
|
UTSW |
8 |
13,817,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9796:Cdc16
|
UTSW |
8 |
13,807,693 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation