Incidental Mutation 'R6353:Cnot10'
ID |
512305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot10
|
Ensembl Gene |
ENSMUSG00000056167 |
Gene Name |
CCR4-NOT transcription complex, subunit 10 |
Synonyms |
2600001P13Rik |
MMRRC Submission |
044505-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6353 (G1)
|
Quality Score |
152.008 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114426614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 646
(L646P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000215155]
[ENSMUST00000217148]
|
AlphaFold |
Q8BH15 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070117
AA Change: L646P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064840 Gene: ENSMUSG00000056167 AA Change: L646P
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: ENSMUST00000157300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
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 |
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'- TTTCAGGTGTTTAATAAACTGACCA -3'
(R):5'- TGGCCTGCATCCCAAAGACTTA -3'
Sequencing Primer
(F):5'- GGTGTTTAATAAACTGACCATAAACC -3'
(R):5'- AAAGACTTAGACCCTGCATCTCTGTG -3'
|
Posted On |
2018-04-27 |