Incidental Mutation 'R5317:Cnot8'
ID |
405882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot8
|
Ensembl Gene |
ENSMUSG00000020515 |
Gene Name |
CCR4-NOT transcription complex, subunit 8 |
Synonyms |
1500015I04Rik, 1810022F04Rik |
MMRRC Submission |
042900-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.907)
|
Stock # |
R5317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
57994979-58009420 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58004029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 155
(S155P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020822]
[ENSMUST00000108843]
[ENSMUST00000134896]
|
AlphaFold |
Q9D8X5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020822
AA Change: S155P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020822 Gene: ENSMUSG00000020515 AA Change: S155P
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: S155P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104471 Gene: ENSMUSG00000020515 AA Change: S155P
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGCTCATAGTGACACCTTG -3'
(R):5'- CTACAGCACTGCAGGTCAAGTG -3'
Sequencing Primer
(F):5'- GTTTTTCAGAGAGGATATGTACTCCC -3'
(R):5'- AAAGCCCATGTGCGTGTTCAC -3'
|
Posted On |
2016-07-22 |