Incidental Mutation 'R6849:Cnot10'
| ID |
534922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
2600001P13Rik |
| MMRRC Submission |
044953-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6849 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114461004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 55
(D55E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
| AlphaFold |
Q8BH15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070117
AA Change: D55E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: D55E
| 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 |
probably benign
Transcript: ENSMUST00000213955
AA Change: D55E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215155
AA Change: D55E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216785
AA Change: D55E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217148
AA Change: D55E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
| 4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
| 4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
| Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
| Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
| Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
| Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
| Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
| Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
| Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
| Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
| Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
| Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
| Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
| Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
| Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
| Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
| Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
| Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
| Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
possibly 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 |
|
R5702:Cnot10
|
UTSW |
9 |
114,458,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TCTGTCATCAACATCAGGCAAG -3'
(R):5'- ATTGCTATACGTAGGGGACTTC -3'
Sequencing Primer
(F):5'- GTCATCAACATCAGGCAAGAAATAAC -3'
(R):5'- CGTAGGGGACTTCTGCTTTAAAAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation