Incidental Mutation 'R5351:Cnot8'
| ID |
423806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot8
|
| Ensembl Gene |
ENSMUSG00000020515 |
| Gene Name |
CCR4-NOT transcription complex, subunit 8 |
| Synonyms |
1500015I04Rik, 1810022F04Rik |
| MMRRC Submission |
042930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R5351 (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 A
at 58006147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 225
(H225Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020822]
[ENSMUST00000108843]
[ENSMUST00000134896]
[ENSMUST00000172035]
|
| AlphaFold |
Q9D8X5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020822
AA Change: H225Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020822
Gene: ENSMUSG00000020515
AA Change: H225Q
| 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: H225Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104471
Gene: ENSMUSG00000020515
AA Change: H225Q
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,522,941 (GRCm39) |
S34C |
probably damaging |
Het |
| Apol7e |
T |
G |
15: 77,602,511 (GRCm39) |
*370G |
probably null |
Het |
| Cacna2d4 |
T |
C |
6: 119,245,162 (GRCm39) |
I290T |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,159 (GRCm39) |
V46D |
probably damaging |
Het |
| Ces1d |
A |
G |
8: 93,904,706 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cirbp |
T |
C |
10: 80,006,136 (GRCm39) |
|
probably benign |
Het |
| Fstl1 |
T |
C |
16: 37,649,542 (GRCm39) |
V252A |
probably damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,965 (GRCm39) |
Q17R |
probably benign |
Het |
| Htt |
A |
G |
5: 34,961,177 (GRCm39) |
Y268C |
probably damaging |
Het |
| Ildr2 |
T |
C |
1: 166,136,478 (GRCm39) |
V439A |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,034,875 (GRCm39) |
M557T |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,132 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Mynn |
C |
T |
3: 30,661,691 (GRCm39) |
R258W |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,610,850 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,610 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,330,819 (GRCm39) |
G728D |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,217 (GRCm39) |
D882G |
probably damaging |
Het |
| Prkar2b |
C |
T |
12: 32,022,126 (GRCm39) |
G60R |
probably damaging |
Het |
| Prkdc |
G |
C |
16: 15,649,176 (GRCm39) |
V3717L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,201,697 (GRCm39) |
V250E |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,036 (GRCm39) |
L254P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,296,546 (GRCm39) |
*239W |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,385 (GRCm39) |
V2339A |
probably damaging |
Het |
| Unc80 |
T |
A |
1: 66,645,672 (GRCm39) |
S1449R |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,223 (GRCm39) |
K850M |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 82,974,876 (GRCm39) |
E358G |
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 |
|
R5317:Cnot8
|
UTSW |
11 |
58,004,029 (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'- CAGGGTACTGTTTGGGAAGAAT -3'
(R):5'- CAGCCTCTGTAGATAGACTAACAA -3'
Sequencing Primer
(F):5'- TGAAGGTCTGAAAAATGGCTACTG -3'
(R):5'- AATAACATTCCTACTGTAGAAAGCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation