Incidental Mutation 'R1607:Cnot10'
| ID |
176557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot10
|
| Ensembl Gene |
ENSMUSG00000056167 |
| Gene Name |
CCR4-NOT transcription complex, subunit 10 |
| Synonyms |
|
| MMRRC Submission |
039644-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1607 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
114585878-114640184 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 114629095 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 114
(Y114*)
|
| 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: Y114*
|
| SMART Domains |
Protein: ENSMUSP00000064840
Gene: ENSMUSG00000056167
AA Change: Y114*
| 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 |
probably null
Transcript: ENSMUST00000215155
AA Change: Y114*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216785
AA Change: Y114*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217148
AA Change: Y114*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 120,251,291 (GRCm38) |
P789S |
probably damaging |
Het |
| Adam17 |
T |
A |
12: 21,334,138 (GRCm38) |
|
probably null |
Het |
| Afdn |
C |
T |
17: 13,810,501 (GRCm38) |
R224W |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,180,147 (GRCm38) |
Y1215H |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,042,548 (GRCm38) |
D73V |
probably damaging |
Het |
| Bpifb6 |
T |
C |
2: 153,906,861 (GRCm38) |
F259S |
probably damaging |
Het |
| Cenpv |
A |
T |
11: 62,525,176 (GRCm38) |
M249K |
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,186,118 (GRCm38) |
V231I |
probably benign |
Het |
| Clasp1 |
G |
A |
1: 118,504,959 (GRCm38) |
V460I |
probably damaging |
Het |
| Cpb1 |
G |
T |
3: 20,263,782 (GRCm38) |
R193S |
probably benign |
Het |
| Ctc1 |
T |
C |
11: 69,036,150 (GRCm38) |
S1207P |
possibly damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,435,433 (GRCm38) |
K142M |
probably damaging |
Het |
| Dhrs7b |
T |
G |
11: 60,851,891 (GRCm38) |
D136E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,290,646 (GRCm38) |
S3217P |
probably damaging |
Het |
| Eif4g3 |
C |
T |
4: 138,126,563 (GRCm38) |
S480L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,917,197 (GRCm38) |
|
probably null |
Het |
| Epx |
T |
C |
11: 87,868,712 (GRCm38) |
D517G |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,976,663 (GRCm38) |
D43V |
probably damaging |
Het |
| Gdf9 |
A |
T |
11: 53,437,511 (GRCm38) |
E431D |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,320,574 (GRCm38) |
D374G |
probably damaging |
Het |
| Gin1 |
A |
T |
1: 97,786,150 (GRCm38) |
I392F |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,529,703 (GRCm38) |
E786G |
possibly damaging |
Het |
| Grk4 |
T |
C |
5: 34,731,538 (GRCm38) |
V342A |
probably benign |
Het |
| Hhipl2 |
A |
T |
1: 183,423,524 (GRCm38) |
Y135F |
possibly damaging |
Het |
| Insig1 |
C |
T |
5: 28,071,708 (GRCm38) |
R91W |
probably damaging |
Het |
| Kcnf1 |
C |
G |
12: 17,175,732 (GRCm38) |
D163H |
probably benign |
Het |
| Kif11 |
A |
T |
19: 37,387,200 (GRCm38) |
K190* |
probably null |
Het |
| Ldb2 |
T |
G |
5: 44,473,472 (GRCm38) |
E309A |
probably damaging |
Het |
| Lipo4 |
T |
G |
19: 33,512,673 (GRCm38) |
D143A |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 133,252,473 (GRCm38) |
I1261S |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,015,409 (GRCm38) |
V27I |
possibly damaging |
Het |
| Ndufaf2 |
C |
T |
13: 108,091,573 (GRCm38) |
V60I |
probably benign |
Het |
| Nup133 |
A |
G |
8: 123,949,035 (GRCm38) |
F48L |
probably benign |
Het |
| Olfr1131 |
T |
A |
2: 87,628,977 (GRCm38) |
N171K |
probably benign |
Het |
| Olfr1357 |
G |
T |
10: 78,612,140 (GRCm38) |
T167N |
probably benign |
Het |
| Olfr1362 |
A |
C |
13: 21,611,764 (GRCm38) |
F68L |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,515,479 (GRCm38) |
N554Y |
probably damaging |
Het |
| Pcx |
A |
T |
19: 4,603,159 (GRCm38) |
D284V |
possibly damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,467,119 (GRCm38) |
S203P |
probably damaging |
Het |
| Pdlim3 |
A |
T |
8: 45,896,859 (GRCm38) |
I69F |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,322,554 (GRCm38) |
V598A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,612,306 (GRCm38) |
I509V |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,652,783 (GRCm38) |
T319N |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,463,320 (GRCm38) |
D380G |
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,741,536 (GRCm38) |
R587S |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,486,092 (GRCm38) |
R1850L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,944,043 (GRCm38) |
T1132K |
probably benign |
Het |
| Stard7 |
T |
A |
2: 127,295,486 (GRCm38) |
N285K |
possibly damaging |
Het |
| Tcp11l2 |
C |
T |
10: 84,613,487 (GRCm38) |
R439W |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,280,508 (GRCm38) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 50,824,563 (GRCm38) |
L2570Q |
probably null |
Het |
| Tex14 |
A |
T |
11: 87,554,928 (GRCm38) |
D191V |
probably damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,063,019 (GRCm38) |
|
probably null |
Het |
| Tmem132e |
A |
G |
11: 82,437,370 (GRCm38) |
K408R |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,144,766 (GRCm38) |
D216G |
possibly damaging |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm38) |
A752T |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,379,419 (GRCm38) |
H412R |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 34,116,595 (GRCm38) |
E352G |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,510,295 (GRCm38) |
L960* |
probably null |
Het |
| Zc3h11a |
A |
C |
1: 133,624,687 (GRCm38) |
S561A |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,062,985 (GRCm38) |
D2436E |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,019,907 (GRCm38) |
H88R |
probably benign |
Het |
|
| Other mutations in Cnot10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Cnot10
|
APN |
9 |
114,631,855 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02004:Cnot10
|
APN |
9 |
114,622,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03297:Cnot10
|
APN |
9 |
114,598,716 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
BB003:Cnot10
|
UTSW |
9 |
114,617,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB013:Cnot10
|
UTSW |
9 |
114,617,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0348:Cnot10
|
UTSW |
9 |
114,598,770 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0390:Cnot10
|
UTSW |
9 |
114,629,150 (GRCm38) |
nonsense |
probably null |
|
|
R1256:Cnot10
|
UTSW |
9 |
114,610,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1471:Cnot10
|
UTSW |
9 |
114,591,551 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1721:Cnot10
|
UTSW |
9 |
114,614,999 (GRCm38) |
missense |
probably benign |
|
|
R1741:Cnot10
|
UTSW |
9 |
114,597,824 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2116:Cnot10
|
UTSW |
9 |
114,626,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4073:Cnot10
|
UTSW |
9 |
114,622,947 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4074:Cnot10
|
UTSW |
9 |
114,622,947 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4075:Cnot10
|
UTSW |
9 |
114,622,947 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4365:Cnot10
|
UTSW |
9 |
114,631,881 (GRCm38) |
nonsense |
probably null |
|
|
R4383:Cnot10
|
UTSW |
9 |
114,631,881 (GRCm38) |
nonsense |
probably null |
|
|
R4385:Cnot10
|
UTSW |
9 |
114,631,881 (GRCm38) |
nonsense |
probably null |
|
|
R4398:Cnot10
|
UTSW |
9 |
114,631,881 (GRCm38) |
nonsense |
probably null |
|
|
R4423:Cnot10
|
UTSW |
9 |
114,617,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Cnot10
|
UTSW |
9 |
114,627,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4916:Cnot10
|
UTSW |
9 |
114,629,134 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4927:Cnot10
|
UTSW |
9 |
114,617,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5153:Cnot10
|
UTSW |
9 |
114,613,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5677:Cnot10
|
UTSW |
9 |
114,629,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5702:Cnot10
|
UTSW |
9 |
114,629,010 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5790:Cnot10
|
UTSW |
9 |
114,625,917 (GRCm38) |
splice site |
probably null |
|
|
R6190:Cnot10
|
UTSW |
9 |
114,632,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6353:Cnot10
|
UTSW |
9 |
114,597,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6463:Cnot10
|
UTSW |
9 |
114,625,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6819:Cnot10
|
UTSW |
9 |
114,615,055 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6849:Cnot10
|
UTSW |
9 |
114,631,936 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6875:Cnot10
|
UTSW |
9 |
114,615,107 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7071:Cnot10
|
UTSW |
9 |
114,617,719 (GRCm38) |
splice site |
probably null |
|
|
R7408:Cnot10
|
UTSW |
9 |
114,631,826 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7412:Cnot10
|
UTSW |
9 |
114,625,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7645:Cnot10
|
UTSW |
9 |
114,613,637 (GRCm38) |
missense |
probably benign |
|
|
R7706:Cnot10
|
UTSW |
9 |
114,593,438 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7926:Cnot10
|
UTSW |
9 |
114,617,815 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8187:Cnot10
|
UTSW |
9 |
114,597,488 (GRCm38) |
nonsense |
probably null |
|
|
R8322:Cnot10
|
UTSW |
9 |
114,627,469 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8412:Cnot10
|
UTSW |
9 |
114,610,670 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8904:Cnot10
|
UTSW |
9 |
114,601,355 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9340:Cnot10
|
UTSW |
9 |
114,631,829 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9691:Cnot10
|
UTSW |
9 |
114,591,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Cnot10
|
UTSW |
9 |
114,615,134 (GRCm38) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGGGAAAGAGTGCTAAAGGAAA -3'
(R):5'- cAGAGGTATTATGGCAGTGTAGGAAAATCAAA -3'
Sequencing Primer
(F):5'- tcttaccatctctccagtccc -3'
(R):5'- ccttgtgttagttctcctgcc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation