Incidental Mutation 'R6444:Cnot2'
| ID |
519135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2810470K03Rik, 2600016M12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116485161-116581511 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116499355 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 246
(D246G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000164088]
[ENSMUST00000167706]
[ENSMUST00000168036]
[ENSMUST00000169507]
[ENSMUST00000169576]
[ENSMUST00000169921]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
AA Change: D211G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
AA Change: D211G
| 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: D296G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
AA Change: D296G
| 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: D255G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127830
Gene: ENSMUSG00000020166
AA Change: D255G
| 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
AA Change: D246G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
AA Change: D246G
| 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
AA Change: D255G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
AA Change: D255G
| 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: ENSMUST00000169507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169921
AA Change: D296G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
AA Change: D296G
| 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 |
noncoding transcript
Transcript: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219544
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,639,569 |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,172,046 |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,313,145 |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,501,037 |
|
probably null |
Het |
| Cped1 |
A |
C |
6: 21,986,931 |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,535,476 |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,619,644 |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,190,840 |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,036,211 |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,916,440 |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 122,611,338 |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 32,040,411 |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,365,471 |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,379,999 |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 152,283,831 |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 48,021,814 |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,685,692 |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,895,308 |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,314,956 |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,956,343 |
|
probably null |
Het |
| Olfr1475 |
A |
T |
19: 13,479,430 |
M256K |
possibly damaging |
Het |
| Olfr44 |
T |
C |
9: 39,484,318 |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,486,454 |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,637,307 |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,154,102 |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,225,613 |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 24,891,576 |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,623,412 |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,526,635 |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,112,616 |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 64,982,836 |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,303,546 |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 17,147,681 |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 30,017,257 |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 136,982,400 |
V153A |
probably benign |
Het |
|
| Other mutations in Cnot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Cnot2
|
APN |
10 |
116507071 |
missense |
probably benign |
0.02 |
|
IGL02433:Cnot2
|
APN |
10 |
116492336 |
missense |
possibly damaging |
0.82 |
|
IGL03066:Cnot2
|
APN |
10 |
116499357 |
missense |
probably benign |
0.15 |
|
IGL03383:Cnot2
|
APN |
10 |
116494817 |
splice site |
probably benign |
|
|
R0145:Cnot2
|
UTSW |
10 |
116517368 |
missense |
possibly damaging |
0.90 |
|
R0497:Cnot2
|
UTSW |
10 |
116498355 |
missense |
probably damaging |
1.00 |
|
R0615:Cnot2
|
UTSW |
10 |
116498236 |
missense |
possibly damaging |
0.89 |
|
R1935:Cnot2
|
UTSW |
10 |
116498415 |
missense |
possibly damaging |
0.62 |
|
R1985:Cnot2
|
UTSW |
10 |
116527876 |
missense |
probably damaging |
0.99 |
|
R2148:Cnot2
|
UTSW |
10 |
116506280 |
missense |
probably benign |
0.01 |
|
R4063:Cnot2
|
UTSW |
10 |
116537396 |
missense |
possibly damaging |
0.46 |
|
R4179:Cnot2
|
UTSW |
10 |
116498143 |
missense |
possibly damaging |
0.81 |
|
R4196:Cnot2
|
UTSW |
10 |
116501304 |
missense |
possibly damaging |
0.62 |
|
R4523:Cnot2
|
UTSW |
10 |
116581474 |
unclassified |
probably benign |
|
|
R4572:Cnot2
|
UTSW |
10 |
116494846 |
missense |
probably benign |
0.37 |
|
R4610:Cnot2
|
UTSW |
10 |
116499418 |
missense |
probably damaging |
1.00 |
|
R5219:Cnot2
|
UTSW |
10 |
116506310 |
splice site |
probably null |
|
|
R5847:Cnot2
|
UTSW |
10 |
116527946 |
missense |
probably damaging |
0.98 |
|
R6733:Cnot2
|
UTSW |
10 |
116498153 |
missense |
possibly damaging |
0.81 |
|
R6734:Cnot2
|
UTSW |
10 |
116498153 |
missense |
possibly damaging |
0.81 |
|
R6735:Cnot2
|
UTSW |
10 |
116498153 |
missense |
possibly damaging |
0.81 |
|
R6944:Cnot2
|
UTSW |
10 |
116537223 |
intron |
probably benign |
|
|
R7139:Cnot2
|
UTSW |
10 |
116495019 |
missense |
probably benign |
0.00 |
|
R7248:Cnot2
|
UTSW |
10 |
116498373 |
missense |
probably benign |
0.05 |
|
R7423:Cnot2
|
UTSW |
10 |
116492398 |
missense |
probably damaging |
1.00 |
|
R7526:Cnot2
|
UTSW |
10 |
116507080 |
missense |
probably benign |
0.12 |
|
R7851:Cnot2
|
UTSW |
10 |
116537432 |
missense |
possibly damaging |
0.66 |
|
R8245:Cnot2
|
UTSW |
10 |
116510389 |
missense |
probably benign |
0.07 |
|
R8350:Cnot2
|
UTSW |
10 |
116486276 |
missense |
probably damaging |
1.00 |
|
R8463:Cnot2
|
UTSW |
10 |
116517331 |
missense |
probably benign |
0.11 |
|
R9045:Cnot2
|
UTSW |
10 |
116486255 |
missense |
probably benign |
0.05 |
|
R9175:Cnot2
|
UTSW |
10 |
116498146 |
missense |
possibly damaging |
0.94 |
|
R9229:Cnot2
|
UTSW |
10 |
116549055 |
nonsense |
probably null |
|
|
R9343:Cnot2
|
UTSW |
10 |
116510421 |
missense |
|
|
|
R9508:Cnot2
|
UTSW |
10 |
116493711 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACAGGGACTACAATAAAAGTC -3'
(R):5'- TTGAGTTGCCAGTTCACATGC -3'
Sequencing Primer
(F):5'- CTCACAAGTTCAACAGAAATTTGC -3'
(R):5'- AAAGCTTTTGGTATATTGTGATGAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation