Incidental Mutation 'R4202:Cnot6'
ID |
318801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot6
|
Ensembl Gene |
ENSMUSG00000020362 |
Gene Name |
CCR4-NOT transcription complex, subunit 6 |
Synonyms |
A230103N10Rik |
MMRRC Submission |
041032-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.301)
|
Stock # |
R4202 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49562330-49603550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49593463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 6
(Y6C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020624]
[ENSMUST00000145353]
|
AlphaFold |
Q8K3P5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020624
AA Change: Y6C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020624 Gene: ENSMUSG00000020362 AA Change: Y6C
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 |
noncoding transcript
Transcript: ENSMUST00000120146
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145353
AA Change: Y6C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121239 Gene: ENSMUSG00000020362 AA Change: Y6C
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 |
|
Meta Mutation Damage Score |
0.4165 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
92% (33/36) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
Other mutations in Cnot6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Cnot6
|
APN |
11 |
49,576,093 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAAAGTACCGCTGTTGCTC -3'
(R):5'- CTCCAGGGTTTAATCAGCCATATCC -3'
Sequencing Primer
(F):5'- GCTGTTGCTCTTCTACATGCAGTAG -3'
(R):5'- GGGTTTAATCAGCCATATCCTAGAAC -3'
|
Posted On |
2015-06-10 |