Incidental Mutation 'R5702:Cnot10'
ID |
451751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot10
|
Ensembl Gene |
ENSMUSG00000056167 |
Gene Name |
CCR4-NOT transcription complex, subunit 10 |
Synonyms |
2600001P13Rik |
MMRRC Submission |
043182-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5702 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 114458078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 143
(F143V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
AlphaFold |
Q8BH15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070117
AA Change: F143V
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000064840 Gene: ENSMUSG00000056167 AA Change: F143V
Domain | Start | End | E-Value | Type |
Blast:TPR
|
27 |
60 |
2e-10 |
BLAST |
coiled coil region
|
73 |
107 |
N/A |
INTRINSIC |
TPR
|
110 |
143 |
4.32e1 |
SMART |
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
TPR
|
293 |
326 |
3.37e-2 |
SMART |
TPR
|
355 |
388 |
6.75e1 |
SMART |
low complexity region
|
496 |
508 |
N/A |
INTRINSIC |
TPR
|
643 |
676 |
7.87e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213539
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213955
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215155
AA Change: F143V
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216785
AA Change: F143V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217148
AA Change: F143V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
Mettl13 |
A |
G |
1: 162,373,549 (GRCm39) |
V234A |
probably benign |
Het |
Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,582 (GRCm39) |
T15A |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,838,021 (GRCm39) |
T57A |
possibly damaging |
Het |
Spire2 |
C |
T |
8: 124,073,402 (GRCm39) |
P94S |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,133 (GRCm39) |
F313S |
probably damaging |
Het |
|
Other mutations in Cnot10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01313:Cnot10
|
APN |
9 |
114,460,923 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02004:Cnot10
|
APN |
9 |
114,451,998 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Cnot10
|
APN |
9 |
114,427,784 (GRCm39) |
missense |
possibly damaging |
0.87 |
BB003:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
BB013:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Cnot10
|
UTSW |
9 |
114,427,838 (GRCm39) |
missense |
probably benign |
0.10 |
R0390:Cnot10
|
UTSW |
9 |
114,458,218 (GRCm39) |
nonsense |
probably null |
|
R1256:Cnot10
|
UTSW |
9 |
114,439,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1471:Cnot10
|
UTSW |
9 |
114,420,619 (GRCm39) |
missense |
probably benign |
0.00 |
R1607:Cnot10
|
UTSW |
9 |
114,458,163 (GRCm39) |
nonsense |
probably null |
|
R1721:Cnot10
|
UTSW |
9 |
114,444,067 (GRCm39) |
missense |
probably benign |
|
R1741:Cnot10
|
UTSW |
9 |
114,426,892 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2116:Cnot10
|
UTSW |
9 |
114,455,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R4073:Cnot10
|
UTSW |
9 |
114,452,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4074:Cnot10
|
UTSW |
9 |
114,452,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4075:Cnot10
|
UTSW |
9 |
114,452,015 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4365:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
R4383:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
R4385:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
R4398:Cnot10
|
UTSW |
9 |
114,460,949 (GRCm39) |
nonsense |
probably null |
|
R4423:Cnot10
|
UTSW |
9 |
114,446,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Cnot10
|
UTSW |
9 |
114,456,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Cnot10
|
UTSW |
9 |
114,458,202 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4927:Cnot10
|
UTSW |
9 |
114,447,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Cnot10
|
UTSW |
9 |
114,442,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Cnot10
|
UTSW |
9 |
114,458,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5790:Cnot10
|
UTSW |
9 |
114,454,985 (GRCm39) |
splice site |
probably null |
|
R6190:Cnot10
|
UTSW |
9 |
114,461,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R6353:Cnot10
|
UTSW |
9 |
114,426,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R6463:Cnot10
|
UTSW |
9 |
114,454,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R6819:Cnot10
|
UTSW |
9 |
114,444,123 (GRCm39) |
missense |
probably benign |
0.10 |
R6849:Cnot10
|
UTSW |
9 |
114,461,004 (GRCm39) |
missense |
probably benign |
0.01 |
R6875:Cnot10
|
UTSW |
9 |
114,444,175 (GRCm39) |
missense |
probably benign |
0.00 |
R7071:Cnot10
|
UTSW |
9 |
114,446,787 (GRCm39) |
splice site |
probably null |
|
R7408:Cnot10
|
UTSW |
9 |
114,460,894 (GRCm39) |
missense |
probably benign |
0.33 |
R7412:Cnot10
|
UTSW |
9 |
114,454,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7645:Cnot10
|
UTSW |
9 |
114,442,705 (GRCm39) |
missense |
probably benign |
|
R7706:Cnot10
|
UTSW |
9 |
114,422,506 (GRCm39) |
missense |
probably damaging |
0.98 |
R7926:Cnot10
|
UTSW |
9 |
114,446,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8187:Cnot10
|
UTSW |
9 |
114,426,556 (GRCm39) |
nonsense |
probably null |
|
R8322:Cnot10
|
UTSW |
9 |
114,456,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R8412:Cnot10
|
UTSW |
9 |
114,439,738 (GRCm39) |
missense |
probably benign |
0.11 |
R8904:Cnot10
|
UTSW |
9 |
114,430,423 (GRCm39) |
missense |
probably benign |
0.06 |
R9340:Cnot10
|
UTSW |
9 |
114,460,897 (GRCm39) |
missense |
probably benign |
0.01 |
R9691:Cnot10
|
UTSW |
9 |
114,420,715 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Cnot10
|
UTSW |
9 |
114,444,202 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTATGTGTGTACAAAGGTGTGC -3'
(R):5'- CATTCTGCCCGGATTGTTTCAG -3'
Sequencing Primer
(F):5'- CATCAGATCTTGTCAGAGTGAGC -3'
(R):5'- AGGTCCACTCGGCTGTTGAAG -3'
|
Posted On |
2017-01-03 |