Incidental Mutation 'IGL02877:Cnot8'
| ID |
362678 |
| 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 # |
IGL02877
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
57994979-58009420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58002228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 87
(E87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020822]
[ENSMUST00000108843]
[ENSMUST00000134896]
|
| AlphaFold |
Q9D8X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020822
AA Change: E87G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: E87G
| 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 benign
Transcript: ENSMUST00000108843
AA Change: E87G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: E87G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
13 |
240 |
1.3e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134896
|
| SMART Domains |
Protein: ENSMUSP00000116116
Gene: ENSMUSG00000020515
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,078,875 (GRCm39) |
Y712* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,118,970 (GRCm39) |
D1107G |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,727,876 (GRCm39) |
T504K |
probably damaging |
Het |
| Asb18 |
C |
T |
1: 89,880,533 (GRCm39) |
C160Y |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,629,050 (GRCm39) |
S586P |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,882,550 (GRCm39) |
T1199S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,762,591 (GRCm39) |
E525* |
probably null |
Het |
| Eif2d |
T |
C |
1: 131,092,854 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
A |
G |
17: 23,979,388 (GRCm39) |
S416P |
probably damaging |
Het |
| Glcci1 |
T |
C |
6: 8,582,757 (GRCm39) |
S373P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,327 (GRCm39) |
R905G |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,766,450 (GRCm39) |
V706A |
unknown |
Het |
| Ift74 |
T |
C |
4: 94,513,018 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,919,312 (GRCm39) |
N1821K |
probably benign |
Het |
| Msx1 |
G |
A |
5: 37,981,344 (GRCm39) |
P112S |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,882,968 (GRCm39) |
D409G |
probably benign |
Het |
| Nsmf |
A |
T |
2: 24,945,968 (GRCm39) |
I152F |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,867 (GRCm39) |
I322N |
probably damaging |
Het |
| Or7g27 |
T |
C |
9: 19,250,497 (GRCm39) |
V247A |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,248 (GRCm39) |
T49A |
probably benign |
Het |
| Ptx3 |
A |
G |
3: 66,132,196 (GRCm39) |
Y239C |
probably damaging |
Het |
| Rarg |
G |
T |
15: 102,150,374 (GRCm39) |
|
probably null |
Het |
| Slc33a1 |
G |
A |
3: 63,850,806 (GRCm39) |
T506I |
probably benign |
Het |
| Spem2 |
T |
G |
11: 69,708,521 (GRCm39) |
H148P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,942,581 (GRCm39) |
D961G |
probably damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
|
| Other mutations in Cnot8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Cnot8
|
APN |
11 |
58,002,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01774:Cnot8
|
APN |
11 |
58,006,133 (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 |
2015-12-18 |
Incidental Mutation