Incidental Mutation 'R4385:Cnot10'
| ID |
326175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
2600001P13Rik |
| MMRRC Submission |
041124-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 114460949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 74
(K74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
| AlphaFold |
Q8BH15 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070117
AA Change: K74*
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: K74*
| 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 null
Transcript: ENSMUST00000213955
AA Change: K74*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215155
AA Change: K74*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216785
AA Change: K74*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217148
AA Change: K74*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,259,065 (GRCm39) |
I426N |
probably damaging |
Het |
| Abcc6 |
C |
T |
7: 45,644,752 (GRCm39) |
V808I |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,483 (GRCm39) |
S140P |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,980,157 (GRCm39) |
C132* |
probably null |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,425,640 (GRCm39) |
R59G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,785,568 (GRCm39) |
R441G |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,309,424 (GRCm39) |
I226V |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,312,546 (GRCm39) |
T340S |
possibly damaging |
Het |
| Col5a1 |
A |
C |
2: 27,914,791 (GRCm39) |
M136L |
probably damaging |
Het |
| Coro2a |
A |
T |
4: 46,541,961 (GRCm39) |
I387N |
possibly damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Cyfip2 |
C |
T |
11: 46,133,230 (GRCm39) |
M823I |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,283,429 (GRCm39) |
K555E |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 106,704,818 (GRCm39) |
M164T |
probably damaging |
Het |
| Flg |
C |
A |
3: 93,200,316 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,444,311 (GRCm39) |
D37G |
probably damaging |
Het |
| Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,877,993 (GRCm39) |
D83V |
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,443,699 (GRCm39) |
V71A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,460,607 (GRCm39) |
K806R |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,180,824 (GRCm39) |
E119G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,908,059 (GRCm39) |
H1351R |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,174,162 (GRCm39) |
D244G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,193,110 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,386,322 (GRCm39) |
D1136G |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,575,508 (GRCm39) |
I657V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,129 (GRCm39) |
V55A |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,044,826 (GRCm39) |
N1173S |
probably damaging |
Het |
| Pramel23 |
C |
T |
4: 143,424,584 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
T |
C |
5: 103,681,273 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,182,772 (GRCm39) |
S1483G |
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,300 (GRCm39) |
P360S |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,227,706 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,669 (GRCm39) |
S165P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,900 (GRCm39) |
L1595Q |
probably damaging |
Het |
| Scp2 |
A |
T |
4: 107,928,547 (GRCm39) |
V381D |
probably damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,473,110 (GRCm39) |
Y65H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,178,599 (GRCm39) |
I841T |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,087,057 (GRCm39) |
|
probably null |
Het |
| Spag7 |
C |
T |
11: 70,560,029 (GRCm39) |
A27T |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,505,036 (GRCm39) |
I181V |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,236,372 (GRCm39) |
M130V |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,565 (GRCm39) |
S238F |
probably benign |
Het |
| Usp9y |
G |
A |
Y: 1,304,756 (GRCm39) |
L2363F |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,123 (GRCm39) |
H205L |
probably damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,694 (GRCm39) |
Q59K |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,913,074 (GRCm39) |
D39V |
probably damaging |
Het |
| Zfp146 |
G |
A |
7: 29,861,847 (GRCm39) |
T65I |
probably benign |
Het |
| Zfp36 |
T |
C |
7: 28,077,116 (GRCm39) |
D264G |
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 |
|
|
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 |
|
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'- CACAGCAGGCAATTCACAGG -3'
(R):5'- GCTATACGTAGGGGACTTCTGC -3'
Sequencing Primer
(F):5'- AAGCTCCTGCGTTGGCTAGATC -3'
(R):5'- CGTAGGGGACTTCTGCTTTAAAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation