Incidental Mutation 'R6875:Cnot10'
| ID |
536383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
2600001P13Rik |
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114444175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 407
(S407P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
| AlphaFold |
Q8BH15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070117
AA Change: S407P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: S407P
| 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: ENSMUST00000215155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216785
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217148
AA Change: F289S
|
| Meta Mutation Damage Score |
0.0613 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,154 (GRCm39) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,751,628 (GRCm39) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,003,702 (GRCm39) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,745,155 (GRCm39) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,815,677 (GRCm39) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,100 (GRCm39) |
L614P |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,393,991 (GRCm39) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,552,744 (GRCm39) |
D596E |
probably damaging |
Het |
| Commd6 |
T |
C |
14: 101,871,786 (GRCm39) |
T86A |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,762,001 (GRCm39) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 78,969,760 (GRCm39) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,055,779 (GRCm39) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 72,167,069 (GRCm39) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,050,179 (GRCm39) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,748 (GRCm39) |
Y834F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,169 (GRCm39) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,093,102 (GRCm39) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,976,291 (GRCm39) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,155,909 (GRCm39) |
D586G |
probably damaging |
Het |
| Il36g |
G |
C |
2: 24,078,633 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,762,108 (GRCm39) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 23,422,377 (GRCm39) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,563,559 (GRCm39) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,516,090 (GRCm39) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,906,343 (GRCm39) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,620,011 (GRCm39) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,950,931 (GRCm39) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,615,671 (GRCm39) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,661,662 (GRCm39) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,290,477 (GRCm39) |
Y365C |
probably benign |
Het |
| Or4f56 |
A |
T |
2: 111,703,306 (GRCm39) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,671,647 (GRCm39) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,362,264 (GRCm39) |
S373P |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,320 (GRCm39) |
N380I |
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,877 (GRCm39) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,921,019 (GRCm39) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,366,883 (GRCm39) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,297 (GRCm39) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,315,710 (GRCm39) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,004,624 (GRCm39) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,886,192 (GRCm39) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,660,501 (GRCm39) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,633,822 (GRCm39) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,695 (GRCm39) |
K792R |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,296,935 (GRCm39) |
F100S |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,527,917 (GRCm39) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,082,404 (GRCm39) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,669,462 (GRCm39) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,439,063 (GRCm39) |
H126Q |
probably benign |
Het |
| Tulp2 |
C |
A |
7: 45,168,038 (GRCm39) |
T150K |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,248,863 (GRCm39) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,554,961 (GRCm39) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 72,642,851 (GRCm39) |
N93K |
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 |
|
R6849:Cnot10
|
UTSW |
9 |
114,461,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TACTGCCCACTAAAAGCACGG -3'
(R):5'- AGGGTGGGGAAATGTAGTTTCA -3'
Sequencing Primer
(F):5'- TAAAAGCACGGCACCGACAG -3'
(R):5'- CAGGTGCACACGTGGTACATATTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation