Incidental Mutation 'R3087:Cdc16'
| ID |
262866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc16
|
| Ensembl Gene |
ENSMUSG00000038416 |
| Gene Name |
CDC16 cell division cycle 16 |
| Synonyms |
2700071J12Rik, 2810431D22Rik |
| MMRRC Submission |
040576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R3087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13807676-13831938 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13809004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 19
(Y19H)
|
| 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: Y19H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: Y19H
| 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
|
| Meta Mutation Damage Score |
0.8468 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (29/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
| Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
| Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
| Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
| Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
| Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
| Fbll1 |
A |
T |
11: 35,689,017 (GRCm39) |
V82E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,549,011 (GRCm39) |
W220R |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
| Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,319 (GRCm39) |
I195V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,520,416 (GRCm39) |
D56G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,614,592 (GRCm39) |
V178A |
possibly damaging |
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 |
|
IGL03389:Cdc16
|
APN |
8 |
13,809,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACGGTAATGACGACCTAAAACTC -3'
(R):5'- TTTGTCCAGCTTGCGTGAC -3'
Sequencing Primer
(F):5'- AACTCACACTAGCTGAGCTG -3'
(R):5'- TACTGCGCTGTGAGGTAAAGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation