Incidental Mutation 'R6463:Cnot10'
| ID |
517693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
2600001P13Rik |
| MMRRC Submission |
045324-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114454970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 221
(Y221C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
| AlphaFold |
Q8BH15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070117
AA Change: Y221C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: Y221C
| 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: Y221C
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216785
AA Change: Y221C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217148
AA Change: Y221C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,938 (GRCm39) |
H48L |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,653 (GRCm39) |
I185V |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,309,984 (GRCm39) |
D77E |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,239,959 (GRCm39) |
I336T |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,323,333 (GRCm39) |
L1016* |
probably null |
Het |
| Cep63 |
C |
A |
9: 102,473,354 (GRCm39) |
M504I |
probably benign |
Het |
| Chpf2 |
G |
T |
5: 24,794,524 (GRCm39) |
L231F |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,381,365 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
C |
10: 99,594,960 (GRCm39) |
D35G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,539,875 (GRCm39) |
Y2286C |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,333,409 (GRCm39) |
E293G |
possibly damaging |
Het |
| Ddx31 |
T |
A |
2: 28,737,525 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,199,603 (GRCm39) |
|
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,040 (GRCm39) |
Y348C |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,254,569 (GRCm39) |
I657F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,824 (GRCm39) |
F123S |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,481 (GRCm39) |
N732S |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,462,780 (GRCm39) |
S448P |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,945,663 (GRCm39) |
R795G |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,498 (GRCm39) |
K84R |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,316,921 (GRCm39) |
Y24C |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,773,308 (GRCm39) |
L5489P |
probably damaging |
Het |
| Mettl2 |
G |
A |
11: 105,023,407 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
| Naglu |
A |
G |
11: 100,968,177 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
G |
T |
5: 101,807,342 (GRCm39) |
H347N |
probably damaging |
Het |
| Ntpcr |
A |
G |
8: 126,462,843 (GRCm39) |
E20G |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,873,046 (GRCm39) |
R670G |
probably null |
Het |
| Or10h1 |
G |
A |
17: 33,418,612 (GRCm39) |
V197I |
probably benign |
Het |
| Or2ag16 |
C |
G |
7: 106,352,008 (GRCm39) |
E196Q |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,462 (GRCm39) |
I160V |
probably benign |
Het |
| Phldb2 |
A |
C |
16: 45,595,356 (GRCm39) |
V902G |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,650 (GRCm39) |
R209G |
probably benign |
Het |
| Slc13a3 |
A |
C |
2: 165,287,573 (GRCm39) |
L127R |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,434,014 (GRCm39) |
I275F |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,462,559 (GRCm39) |
Y124C |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,219,824 (GRCm39) |
M164K |
possibly damaging |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Ttll7 |
G |
A |
3: 146,637,337 (GRCm39) |
R490Q |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,667 (GRCm39) |
N100S |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,129,476 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,435 (GRCm39) |
H468L |
probably benign |
Het |
| Xaf1 |
G |
A |
11: 72,199,464 (GRCm39) |
R67H |
probably benign |
Het |
| Ypel4 |
T |
C |
2: 84,567,087 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,095 (GRCm39) |
I559T |
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 |
|
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 |
|
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'- ACTCGAGTGTACGTGTGCAG -3'
(R):5'- AGAACTTTGAAGTAGCCTGTAGTG -3'
Sequencing Primer
(F):5'- CCTGAACTTGGAGAGCGTTTCC -3'
(R):5'- GGCCTGCAATACATGAAGCCTTAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation