Incidental Mutation 'IGL00546:Cnot6'
| ID |
4609 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnot6
|
| Ensembl Gene |
ENSMUSG00000020362 |
| Gene Name |
CCR4-NOT transcription complex, subunit 6 |
| Synonyms |
A230103N10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
IGL00546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49562330-49603550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49576093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 158
(S158T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020624]
[ENSMUST00000145353]
|
| AlphaFold |
Q8K3P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020624
AA Change: S158T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: S158T
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
50 |
72 |
1.41e0 |
SMART |
|
LRR_TYP
|
73 |
95 |
2.71e-2 |
SMART |
|
LRR_TYP
|
96 |
119 |
1.67e-2 |
SMART |
|
Pfam:Exo_endo_phos
|
187 |
526 |
1.9e-23 |
PFAM |
|
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145353
AA Change: S158T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: S158T
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
50 |
72 |
1.41e0 |
SMART |
|
LRR_TYP
|
73 |
95 |
2.71e-2 |
SMART |
|
LRR_TYP
|
96 |
119 |
1.67e-2 |
SMART |
|
Pfam:Exo_endo_phos
|
192 |
531 |
1.9e-23 |
PFAM |
|
low complexity region
|
534 |
547 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151090
|
| 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 the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
T |
C |
17: 48,401,096 (GRCm39) |
V127A |
possibly damaging |
Het |
| 9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
| Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
| Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
| Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
| Ints14 |
A |
T |
9: 64,880,074 (GRCm39) |
N196I |
probably benign |
Het |
| Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
| Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
| Nipsnap1 |
A |
G |
11: 4,839,098 (GRCm39) |
E126G |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,585,748 (GRCm39) |
M54K |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 138,020,536 (GRCm39) |
Y266H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
| Other mutations in Cnot6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Cnot6
|
APN |
11 |
49,575,947 (GRCm39) |
missense |
probably benign |
|
|
IGL01655:Cnot6
|
APN |
11 |
49,568,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02074:Cnot6
|
APN |
11 |
49,580,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02670:Cnot6
|
APN |
11 |
49,575,941 (GRCm39) |
nonsense |
probably null |
|
|
R0326:Cnot6
|
UTSW |
11 |
49,568,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Cnot6
|
UTSW |
11 |
49,573,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Cnot6
|
UTSW |
11 |
49,575,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3820:Cnot6
|
UTSW |
11 |
49,579,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3821:Cnot6
|
UTSW |
11 |
49,579,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3822:Cnot6
|
UTSW |
11 |
49,579,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4202:Cnot6
|
UTSW |
11 |
49,593,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Cnot6
|
UTSW |
11 |
49,593,363 (GRCm39) |
splice site |
probably null |
|
|
R6010:Cnot6
|
UTSW |
11 |
49,574,066 (GRCm39) |
nonsense |
probably null |
|
|
R6193:Cnot6
|
UTSW |
11 |
49,570,850 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7149:Cnot6
|
UTSW |
11 |
49,570,970 (GRCm39) |
missense |
probably benign |
|
|
R7501:Cnot6
|
UTSW |
11 |
49,576,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7556:Cnot6
|
UTSW |
11 |
49,566,144 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8263:Cnot6
|
UTSW |
11 |
49,573,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8398:Cnot6
|
UTSW |
11 |
49,593,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Cnot6
|
UTSW |
11 |
49,566,191 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8519:Cnot6
|
UTSW |
11 |
49,575,941 (GRCm39) |
missense |
probably benign |
|
|
R9683:Cnot6
|
UTSW |
11 |
49,580,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF003:Cnot6
|
UTSW |
11 |
49,593,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-04-20 |
Incidental Mutation