Incidental Mutation 'R3822:Cnot6'
ID |
275236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot6
|
Ensembl Gene |
ENSMUSG00000020362 |
Gene Name |
CCR4-NOT transcription complex, subunit 6 |
Synonyms |
A230103N10Rik |
MMRRC Submission |
040884-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.301)
|
Stock # |
R3822 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
49562330-49603550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49579999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 98
(S98T)
|
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: S98T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000020624 Gene: ENSMUSG00000020362 AA Change: S98T
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: S98T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000121239 Gene: ENSMUSG00000020362 AA Change: S98T
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 |
0.0611 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (34/34) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
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 |
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'- ATCTCTGGACAGTCAATTCTTACC -3'
(R):5'- ATTTTGGCAGCCGCTCTATC -3'
Sequencing Primer
(F):5'- AAAGCCATGCCTCCTTTC -3'
(R):5'- GGCAGCCGCTCTATCTAACC -3'
|
Posted On |
2015-04-02 |