Incidental Mutation 'R6382:Cnot6l'
ID |
515361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot6l
|
Ensembl Gene |
ENSMUSG00000034724 |
Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
Synonyms |
4932442K20Rik |
MMRRC Submission |
044531-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.549)
|
Stock # |
R6382 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
96218192-96312030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96276858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 110
(R110L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036646]
[ENSMUST00000113005]
[ENSMUST00000122003]
[ENSMUST00000129646]
[ENSMUST00000137207]
[ENSMUST00000141383]
[ENSMUST00000155901]
[ENSMUST00000154500]
|
AlphaFold |
Q8VEG6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036646
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113005
AA Change: R115L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108629 Gene: ENSMUSG00000034724 AA Change: R115L
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: R110L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113821 Gene: ENSMUSG00000034724 AA Change: R110L
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 |
possibly damaging
Transcript: ENSMUST00000129646
AA Change: R110L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123653 Gene: ENSMUSG00000034724 AA Change: R110L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137207
|
SMART Domains |
Protein: ENSMUSP00000121627 Gene: ENSMUSG00000034724
Domain | Start | End | E-Value | Type |
LRR_TYP
|
50 |
73 |
6.67e-2 |
SMART |
Pfam:LRR_1
|
75 |
87 |
6.9e-2 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141383
|
SMART Domains |
Protein: ENSMUSP00000114436 Gene: ENSMUSG00000034724
Domain | Start | End | E-Value | Type |
LRR
|
50 |
72 |
4.34e-1 |
SMART |
LRR_TYP
|
73 |
96 |
1.58e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155901
AA Change: R110L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119415 Gene: ENSMUSG00000034724 AA Change: R110L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154500
|
Meta Mutation Damage Score |
0.2593 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
Col7a1 |
G |
A |
9: 108,804,461 (GRCm39) |
S2264N |
unknown |
Het |
Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
H2-T23 |
T |
C |
17: 36,342,724 (GRCm39) |
Y138C |
probably damaging |
Het |
Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
Ripor2 |
T |
C |
13: 24,861,828 (GRCm39) |
I207T |
possibly damaging |
Het |
Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
Shkbp1 |
C |
A |
7: 27,051,484 (GRCm39) |
E192* |
probably null |
Het |
Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
probably benign |
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 |
IGL02102:Cnot6l
|
APN |
5 |
96,239,518 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCACCTTTAACAAATCCTTC -3'
(R):5'- TGTGCTACAGAATGAGTGAGTC -3'
Sequencing Primer
(F):5'- AACAAATCCTTCTCACTCTTTCAG -3'
(R):5'- GAATGACAAATGCAGACATT -3'
|
Posted On |
2018-05-04 |