Incidental Mutation 'R6773:Cnot6l'
| ID |
532236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot6l
|
| Ensembl Gene |
ENSMUSG00000034724 |
| Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
| Synonyms |
4932442K20Rik |
| MMRRC Submission |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
96218192-96312030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 96242158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 188
(C188W)
|
| 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: C193W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: C193W
| 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: C188W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: C188W
| 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 |
probably damaging
Transcript: ENSMUST00000155901
AA Change: C188W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: C188W
| 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 |
|
| Meta Mutation Damage Score |
0.9301 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,355 (GRCm39) |
T119S |
possibly damaging |
Het |
| Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
| Gpr153 |
T |
A |
4: 152,363,757 (GRCm39) |
V59E |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,300,622 (GRCm39) |
V369A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,370,435 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
| Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,876 (GRCm39) |
K193E |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
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 |
|
R6382:Cnot6l
|
UTSW |
5 |
96,276,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6515:Cnot6l
|
UTSW |
5 |
96,309,537 (GRCm39) |
intron |
probably benign |
|
|
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'- CCCCAGAGGTAGCATTTTCTAC -3'
(R):5'- CTCTTATGGCTAAATTTGGTCACCC -3'
Sequencing Primer
(F):5'- GATATCTGCGTCCCAGTTAA -3'
(R):5'- TTTGAGAAATCCTGCATTCCAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation