Incidental Mutation 'IGL03383:Cnot2'
| ID |
420783 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2600016M12Rik, 2810470K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.894)
|
| Stock # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 116330722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169921]
[ENSMUST00000169576]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
310 |
437 |
1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105267
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
396 |
521 |
8.8e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164088
|
| SMART Domains |
Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
354 |
481 |
2.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167706
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
345 |
472 |
2.5e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168036
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
354 |
481 |
2.6e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169921
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
395 |
522 |
1.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219544
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
| Other mutations in Cnot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Cnot2
|
APN |
10 |
116,342,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02433:Cnot2
|
APN |
10 |
116,328,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03066:Cnot2
|
APN |
10 |
116,335,262 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0145:Cnot2
|
UTSW |
10 |
116,353,273 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0497:Cnot2
|
UTSW |
10 |
116,334,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Cnot2
|
UTSW |
10 |
116,334,141 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1935:Cnot2
|
UTSW |
10 |
116,334,320 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1985:Cnot2
|
UTSW |
10 |
116,363,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2148:Cnot2
|
UTSW |
10 |
116,342,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4063:Cnot2
|
UTSW |
10 |
116,373,301 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4179:Cnot2
|
UTSW |
10 |
116,334,048 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4196:Cnot2
|
UTSW |
10 |
116,337,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4523:Cnot2
|
UTSW |
10 |
116,417,379 (GRCm39) |
unclassified |
probably benign |
|
|
R4572:Cnot2
|
UTSW |
10 |
116,330,751 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4610:Cnot2
|
UTSW |
10 |
116,335,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Cnot2
|
UTSW |
10 |
116,342,215 (GRCm39) |
splice site |
probably null |
|
|
R5847:Cnot2
|
UTSW |
10 |
116,363,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6444:Cnot2
|
UTSW |
10 |
116,335,260 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6733:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6734:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6735:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6944:Cnot2
|
UTSW |
10 |
116,373,128 (GRCm39) |
intron |
probably benign |
|
|
R7139:Cnot2
|
UTSW |
10 |
116,330,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Cnot2
|
UTSW |
10 |
116,334,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7423:Cnot2
|
UTSW |
10 |
116,328,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Cnot2
|
UTSW |
10 |
116,342,985 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7851:Cnot2
|
UTSW |
10 |
116,373,337 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8245:Cnot2
|
UTSW |
10 |
116,346,294 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8350:Cnot2
|
UTSW |
10 |
116,322,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8463:Cnot2
|
UTSW |
10 |
116,353,236 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9045:Cnot2
|
UTSW |
10 |
116,322,160 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9175:Cnot2
|
UTSW |
10 |
116,334,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9229:Cnot2
|
UTSW |
10 |
116,384,960 (GRCm39) |
nonsense |
probably null |
|
|
R9343:Cnot2
|
UTSW |
10 |
116,346,326 (GRCm39) |
missense |
|
|
|
R9508:Cnot2
|
UTSW |
10 |
116,329,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation