Incidental Mutation 'IGL02102:Cnot6l'
ID |
279779 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnot6l
|
Ensembl Gene |
ENSMUSG00000034724 |
Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
Synonyms |
4932442K20Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.527)
|
Stock # |
IGL02102
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
96218192-96312030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96239518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 261
(K261R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036646]
[ENSMUST00000113005]
[ENSMUST00000122003]
[ENSMUST00000155901]
|
AlphaFold |
Q8VEG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036646
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113005
AA Change: K266R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108629 Gene: ENSMUSG00000034724 AA Change: K266R
Domain | Start | End | E-Value | Type |
LRR
|
55 |
77 |
4.34e-1 |
SMART |
LRR
|
78 |
100 |
1.01e-1 |
SMART |
LRR
|
101 |
124 |
7.55e-1 |
SMART |
Pfam:Exo_endo_phos
|
192 |
529 |
7.3e-22 |
PFAM |
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122003
AA Change: K261R
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113821 Gene: ENSMUSG00000034724 AA Change: K261R
Domain | Start | End | E-Value | Type |
LRR
|
50 |
72 |
4.34e-1 |
SMART |
LRR
|
73 |
95 |
1.01e-1 |
SMART |
LRR
|
96 |
119 |
7.55e-1 |
SMART |
Pfam:Exo_endo_phos
|
187 |
433 |
1.3e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152490
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155901
AA Change: K261R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119415 Gene: ENSMUSG00000034724 AA Change: K261R
Domain | Start | End | E-Value | Type |
LRR
|
50 |
72 |
4.34e-1 |
SMART |
LRR
|
73 |
95 |
1.01e-1 |
SMART |
LRR
|
96 |
119 |
7.55e-1 |
SMART |
Pfam:Exo_endo_phos
|
187 |
524 |
2.2e-23 |
PFAM |
low complexity region
|
527 |
540 |
N/A |
INTRINSIC |
|
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 |
Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
Het |
|
Other mutations in Cnot6l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01346:Cnot6l
|
APN |
5 |
96,234,105 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Cnot6l
|
UTSW |
5 |
96,278,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
BB015:Cnot6l
|
UTSW |
5 |
96,278,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0443:Cnot6l
|
UTSW |
5 |
96,239,604 (GRCm39) |
splice site |
probably benign |
|
R0448:Cnot6l
|
UTSW |
5 |
96,227,905 (GRCm39) |
missense |
probably benign |
0.00 |
R1436:Cnot6l
|
UTSW |
5 |
96,281,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R2198:Cnot6l
|
UTSW |
5 |
96,227,800 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4240:Cnot6l
|
UTSW |
5 |
96,225,221 (GRCm39) |
missense |
probably benign |
|
R4506:Cnot6l
|
UTSW |
5 |
96,234,033 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4624:Cnot6l
|
UTSW |
5 |
96,225,070 (GRCm39) |
missense |
probably benign |
0.05 |
R4627:Cnot6l
|
UTSW |
5 |
96,225,070 (GRCm39) |
missense |
probably benign |
0.05 |
R4629:Cnot6l
|
UTSW |
5 |
96,225,070 (GRCm39) |
missense |
probably benign |
0.05 |
R4868:Cnot6l
|
UTSW |
5 |
96,230,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Cnot6l
|
UTSW |
5 |
96,227,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5597:Cnot6l
|
UTSW |
5 |
96,278,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R5781:Cnot6l
|
UTSW |
5 |
96,234,024 (GRCm39) |
missense |
probably benign |
0.31 |
R6142:Cnot6l
|
UTSW |
5 |
96,230,837 (GRCm39) |
missense |
probably benign |
0.00 |
R6166:Cnot6l
|
UTSW |
5 |
96,227,799 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6189:Cnot6l
|
UTSW |
5 |
96,246,136 (GRCm39) |
missense |
probably benign |
0.18 |
R6382:Cnot6l
|
UTSW |
5 |
96,276,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R6515:Cnot6l
|
UTSW |
5 |
96,309,537 (GRCm39) |
intron |
probably benign |
|
R6773:Cnot6l
|
UTSW |
5 |
96,242,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R7326:Cnot6l
|
UTSW |
5 |
96,225,158 (GRCm39) |
missense |
probably benign |
0.00 |
R7466:Cnot6l
|
UTSW |
5 |
96,278,987 (GRCm39) |
missense |
probably benign |
0.01 |
R7832:Cnot6l
|
UTSW |
5 |
96,242,084 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7928:Cnot6l
|
UTSW |
5 |
96,278,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8310:Cnot6l
|
UTSW |
5 |
96,239,535 (GRCm39) |
missense |
probably benign |
|
R8499:Cnot6l
|
UTSW |
5 |
96,225,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Cnot6l
|
UTSW |
5 |
96,225,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Cnot6l
|
UTSW |
5 |
96,246,136 (GRCm39) |
missense |
probably benign |
0.18 |
R9100:Cnot6l
|
UTSW |
5 |
96,230,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Cnot6l
|
UTSW |
5 |
96,276,826 (GRCm39) |
missense |
probably benign |
0.01 |
R9485:Cnot6l
|
UTSW |
5 |
96,230,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R9685:Cnot6l
|
UTSW |
5 |
96,230,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |