Incidental Mutation 'IGL01639:Cnot8'
ID |
92932 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnot8
|
Ensembl Gene |
ENSMUSG00000020515 |
Gene Name |
CCR4-NOT transcription complex, subunit 8 |
Synonyms |
1500015I04Rik, 1810022F04Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.907)
|
Stock # |
IGL01639
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
57994979-58009420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58002188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 74
(I74F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020822]
[ENSMUST00000108843]
[ENSMUST00000134896]
|
AlphaFold |
Q9D8X5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020822
AA Change: I74F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020822 Gene: ENSMUSG00000020515 AA Change: I74F
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
15 |
139 |
4.3e-15 |
PFAM |
Pfam:CAF1
|
138 |
238 |
1.4e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108843
AA Change: I74F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104471 Gene: ENSMUSG00000020515 AA Change: I74F
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
240 |
1.3e-73 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133923
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134896
AA Change: I74F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116116 Gene: ENSMUSG00000020515 AA Change: I74F
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
75 |
3.8e-21 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calm4 |
T |
A |
13: 3,888,302 (GRCm39) |
V136E |
probably damaging |
Het |
Coq7 |
A |
T |
7: 118,124,527 (GRCm39) |
V213D |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,010,204 (GRCm39) |
T565A |
probably benign |
Het |
Lgi3 |
A |
G |
14: 70,770,825 (GRCm39) |
I155V |
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,320 (GRCm39) |
N42S |
probably damaging |
Het |
Nherf4 |
T |
A |
9: 44,159,976 (GRCm39) |
E381D |
probably benign |
Het |
Or13a22 |
A |
G |
7: 140,073,099 (GRCm39) |
I183V |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,305,914 (GRCm39) |
S109P |
probably damaging |
Het |
Pals2 |
T |
C |
6: 50,155,460 (GRCm39) |
I261T |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,997,094 (GRCm39) |
|
probably null |
Het |
Plekhg1 |
A |
G |
10: 3,906,751 (GRCm39) |
E556G |
probably damaging |
Het |
Rab1a |
T |
C |
11: 20,173,185 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
A |
T |
10: 51,592,002 (GRCm39) |
R133* |
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,903 (GRCm39) |
S482P |
probably damaging |
Het |
Spire1 |
C |
A |
18: 67,678,738 (GRCm39) |
A68S |
possibly damaging |
Het |
Tmc1 |
G |
A |
19: 20,793,556 (GRCm39) |
T535M |
probably damaging |
Het |
Trip10 |
T |
A |
17: 57,561,165 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
A |
C |
2: 121,033,173 (GRCm39) |
V1711G |
possibly damaging |
Het |
Ubr4 |
G |
T |
4: 139,144,655 (GRCm39) |
R1488L |
probably damaging |
Het |
Vmn2r84 |
A |
T |
10: 130,225,141 (GRCm39) |
Y456* |
probably null |
Het |
Zc3h7a |
T |
C |
16: 10,959,572 (GRCm39) |
S794G |
possibly damaging |
Het |
Zeb2 |
C |
T |
2: 44,887,269 (GRCm39) |
S581N |
probably benign |
Het |
Zfp292 |
G |
A |
4: 34,809,048 (GRCm39) |
P1332L |
probably benign |
Het |
Zfp641 |
A |
G |
15: 98,189,066 (GRCm39) |
I131T |
possibly damaging |
Het |
|
Other mutations in Cnot8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01774:Cnot8
|
APN |
11 |
58,006,133 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02877:Cnot8
|
APN |
11 |
58,002,228 (GRCm39) |
missense |
probably benign |
0.01 |
straws
|
UTSW |
11 |
58,004,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Cnot8
|
UTSW |
11 |
58,004,886 (GRCm39) |
missense |
probably damaging |
0.99 |
R1802:Cnot8
|
UTSW |
11 |
58,008,361 (GRCm39) |
missense |
probably benign |
0.01 |
R2418:Cnot8
|
UTSW |
11 |
58,006,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2419:Cnot8
|
UTSW |
11 |
58,006,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R5199:Cnot8
|
UTSW |
11 |
58,006,100 (GRCm39) |
nonsense |
probably null |
|
R5257:Cnot8
|
UTSW |
11 |
58,008,348 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5317:Cnot8
|
UTSW |
11 |
58,004,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R5351:Cnot8
|
UTSW |
11 |
58,006,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5702:Cnot8
|
UTSW |
11 |
58,004,873 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6106:Cnot8
|
UTSW |
11 |
58,004,816 (GRCm39) |
missense |
probably damaging |
0.96 |
R6261:Cnot8
|
UTSW |
11 |
58,004,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Cnot8
|
UTSW |
11 |
58,004,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Cnot8
|
UTSW |
11 |
58,008,331 (GRCm39) |
missense |
probably benign |
0.03 |
R7070:Cnot8
|
UTSW |
11 |
58,008,278 (GRCm39) |
missense |
probably benign |
0.00 |
R7888:Cnot8
|
UTSW |
11 |
58,002,137 (GRCm39) |
missense |
probably benign |
|
Z1176:Cnot8
|
UTSW |
11 |
58,003,916 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2013-12-09 |