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 |
Incidental Mutation