Incidental Mutation 'IGL02074:Cnot6'
| ID |
185928 |
| 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? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
IGL02074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
49562330-49603550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49580070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 74
(H74R)
|
| 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: H74R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020624
Gene: ENSMUSG00000020362
AA Change: H74R
| 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: H74R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121239
Gene: ENSMUSG00000020362
AA Change: H74R
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,184,176 (GRCm39) |
S974G |
probably benign |
Het |
| Abi2 |
T |
C |
1: 60,486,466 (GRCm39) |
V209A |
probably damaging |
Het |
| Ankrd33b |
C |
A |
15: 31,297,807 (GRCm39) |
V317F |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,670,309 (GRCm39) |
C106R |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,296,980 (GRCm39) |
H695R |
probably benign |
Het |
| Bag4 |
G |
T |
8: 26,259,383 (GRCm39) |
T272K |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,585,051 (GRCm39) |
A397D |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
| Dixdc1 |
C |
T |
9: 50,613,317 (GRCm39) |
V212M |
probably benign |
Het |
| Dnaaf11 |
T |
C |
15: 66,361,339 (GRCm39) |
N54S |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,873,349 (GRCm39) |
E1137G |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,318 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,963,297 (GRCm39) |
I1132F |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,188,514 (GRCm39) |
V432I |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,265 (GRCm39) |
S2449G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,737,192 (GRCm39) |
|
probably benign |
Het |
| L1cam |
A |
G |
X: 72,906,619 (GRCm39) |
W275R |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,722,579 (GRCm39) |
V660A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,673,463 (GRCm39) |
D633G |
possibly damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,497 (GRCm39) |
M140K |
probably damaging |
Het |
| Or55b3 |
G |
T |
7: 102,126,679 (GRCm39) |
H133N |
probably benign |
Het |
| Or7g33 |
A |
T |
9: 19,449,148 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,841,979 (GRCm39) |
T171S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,096,775 (GRCm39) |
T146A |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 107,944,088 (GRCm39) |
L508Q |
probably damaging |
Het |
| Scaf4 |
G |
T |
16: 90,039,808 (GRCm39) |
P812T |
unknown |
Het |
| Slc45a2 |
A |
G |
15: 11,000,903 (GRCm39) |
M1V |
probably null |
Het |
| Ttr |
T |
C |
18: 20,799,580 (GRCm39) |
V46A |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,113,206 (GRCm39) |
K216R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,603 (GRCm39) |
I251V |
probably benign |
Het |
| Xlr |
A |
T |
X: 52,798,101 (GRCm39) |
|
probably benign |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
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 |
|
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 |
2014-05-07 |
Incidental Mutation