Incidental Mutation 'IGL01313:Cnot10'
ID |
73760 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnot10
|
Ensembl Gene |
ENSMUSG00000056167 |
Gene Name |
CCR4-NOT transcription complex, subunit 10 |
Synonyms |
2600001P13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01313
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
114414946-114469252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114460923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 82
(N82K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070117]
[ENSMUST00000213955]
[ENSMUST00000215155]
[ENSMUST00000216785]
[ENSMUST00000217148]
|
AlphaFold |
Q8BH15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070117
AA Change: N82K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000064840 Gene: ENSMUSG00000056167 AA Change: N82K
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 |
unknown
Transcript: ENSMUST00000213955
AA Change: N82K
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215155
AA Change: N82K
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216785
AA Change: N82K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217148
AA Change: N82K
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217296
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
Cep170b |
G |
A |
12: 112,702,086 (GRCm39) |
R293H |
probably damaging |
Het |
Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
Mycbpap |
A |
C |
11: 94,400,145 (GRCm39) |
|
probably null |
Het |
Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,662,361 (GRCm39) |
I609F |
unknown |
Het |
Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
Thoc1 |
A |
T |
18: 9,987,158 (GRCm39) |
I433F |
probably benign |
Het |
Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
probably damaging |
Het |
|
Other mutations in Cnot10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-10-07 |