Incidental Mutation 'R1079:Cnot6'
ID |
85790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot6
|
Ensembl Gene |
ENSMUSG00000020362 |
Gene Name |
CCR4-NOT transcription complex, subunit 6 |
Synonyms |
A230103N10Rik |
MMRRC Submission |
039165-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.301)
|
Stock # |
R1079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49562330-49603550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 49575930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 176
(D176E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020624]
[ENSMUST00000145353]
|
AlphaFold |
Q8K3P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020624
AA Change: D176E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000020624 Gene: ENSMUSG00000020362 AA Change: D176E
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: D181E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000121239 Gene: ENSMUSG00000020362 AA Change: D181E
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
Fndc3a |
A |
T |
14: 72,827,247 (GRCm39) |
M146K |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,302,043 (GRCm39) |
F50L |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
Rad17 |
G |
T |
13: 100,770,407 (GRCm39) |
D213E |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
Ssh3 |
A |
C |
19: 4,316,577 (GRCm39) |
L143R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,767,794 (GRCm39) |
I812V |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCCAAAGAGAAATTGCTTCCTGG -3'
(R):5'- CAAGAAGGCTACTGAACTACTTGCTCG -3'
Sequencing Primer
(F):5'- GCTTCCTGGTTAAGAAGCAATGC -3'
(R):5'- CTCGATAATTTGTCAGGTACTGC -3'
|
Posted On |
2013-11-18 |