Incidental Mutation 'IGL01774:Cnot8'
| ID |
154043 |
| 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 # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
57994979-58009420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58006133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 221
(I221V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020822]
[ENSMUST00000108843]
[ENSMUST00000134896]
[ENSMUST00000172035]
|
| AlphaFold |
Q9D8X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020822
AA Change: I221V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: I221V
| 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: I221V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: I221V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172035
|
| SMART Domains |
Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
53 |
95 |
1.47e-6 |
SMART |
|
WD40
|
98 |
138 |
6.19e-1 |
SMART |
|
WD40
|
141 |
180 |
1.54e0 |
SMART |
|
WD40
|
184 |
255 |
2.45e-8 |
SMART |
|
WD40
|
280 |
312 |
1.42e2 |
SMART |
|
WD40
|
316 |
365 |
1.99e0 |
SMART |
|
WD40
|
368 |
408 |
5.15e-2 |
SMART |
|
WD40
|
415 |
455 |
8.49e-3 |
SMART |
|
WD40
|
460 |
511 |
8.84e1 |
SMART |
|
WD40
|
529 |
564 |
4.28e0 |
SMART |
|
WD40
|
567 |
613 |
2.24e-2 |
SMART |
|
WD40
|
628 |
668 |
2.2e-10 |
SMART |
|
WD40
|
671 |
711 |
2.31e-4 |
SMART |
|
low complexity region
|
731 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
844 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1132 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
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 |
|
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 |
2014-02-04 |
Incidental Mutation