Incidental Mutation 'IGL00790:Cnot2'
| ID |
9756 |
| 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: 0.899)
|
| Stock # |
IGL00790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116342976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 119
(M119T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020374]
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000169921]
[ENSMUST00000168036]
[ENSMUST00000169576]
[ENSMUST00000169507]
[ENSMUST00000218490]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
AA Change: M34T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: M34T
| 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
AA Change: M119T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: M119T
| 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
AA Change: M78T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: M78T
| 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: ENSMUST00000165527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167706
AA Change: M119T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: M119T
| 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: ENSMUST00000169921
AA Change: M119T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: M119T
| 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: ENSMUST00000168036
AA Change: M78T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: M78T
| 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: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219210
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
| Art4 |
T |
A |
6: 136,831,493 (GRCm39) |
Q216L |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
| Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
| Gnal |
A |
G |
18: 67,267,360 (GRCm39) |
|
probably null |
Het |
| Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
| Ppp1r10 |
A |
T |
17: 36,235,751 (GRCm39) |
N111I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
| Rgs17 |
A |
G |
10: 5,862,624 (GRCm38) |
Q25P |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
| Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
| Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,868,147 (GRCm39) |
V275G |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
| Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
| Other mutations in Cnot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03383:Cnot2
|
APN |
10 |
116,330,722 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation