Incidental Mutation 'R9685:Cnot6l'
| ID |
728789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot6l
|
| Ensembl Gene |
ENSMUSG00000034724 |
| Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
| Synonyms |
4932442K20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R9685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
96218192-96312030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96230749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 406
(L406P)
|
| 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: L411P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: L411P
| 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: L406P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: L406P
| 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: L406P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: L406P
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
G |
T |
16: 64,586,823 (GRCm39) |
N300K |
possibly damaging |
Het |
| A130010J15Rik |
G |
A |
1: 192,857,065 (GRCm39) |
R139H |
probably benign |
Het |
| Aanat |
A |
C |
11: 116,487,681 (GRCm39) |
T127P |
possibly damaging |
Het |
| Acp4 |
G |
A |
7: 43,906,733 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,250,527 (GRCm39) |
I426S |
probably benign |
Het |
| Bcl2a1a |
T |
C |
9: 88,839,185 (GRCm39) |
S28P |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,288,384 (GRCm39) |
S272P |
possibly damaging |
Het |
| Cdk13 |
C |
A |
13: 17,978,542 (GRCm39) |
R232L |
unknown |
Het |
| Clrn2 |
A |
G |
5: 45,611,331 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cspg4 |
T |
G |
9: 56,797,622 (GRCm39) |
V1362G |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,639 (GRCm39) |
S939L |
probably benign |
Het |
| Dcaf1 |
C |
T |
9: 106,713,818 (GRCm39) |
T145I |
probably benign |
Het |
| Ddx28 |
T |
C |
8: 106,736,733 (GRCm39) |
S442G |
probably benign |
Het |
| Dnajc3 |
A |
T |
14: 119,209,775 (GRCm39) |
R283S |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,232,087 (GRCm39) |
T307I |
possibly damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,291 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fam25a |
G |
A |
14: 34,077,266 (GRCm39) |
T17I |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,216,879 (GRCm39) |
E2137G |
probably damaging |
Het |
| Gm10142 |
A |
G |
10: 77,551,762 (GRCm39) |
Q41R |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,564,775 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Hhip |
A |
T |
8: 80,723,363 (GRCm39) |
H430Q |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Impa1 |
T |
A |
3: 10,393,430 (GRCm39) |
I58L |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,451,812 (GRCm39) |
V135E |
probably benign |
Het |
| Jup |
A |
C |
11: 100,274,237 (GRCm39) |
L151R |
probably damaging |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,664 (GRCm39) |
R863S |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,866 (GRCm39) |
F31S |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,520 (GRCm39) |
M282L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,124,383 (GRCm39) |
D144G |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,390 (GRCm39) |
S214R |
probably benign |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtca |
T |
A |
3: 116,293,225 (GRCm39) |
R195S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,835 (GRCm39) |
S360R |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,371,194 (GRCm39) |
F293I |
possibly damaging |
Het |
| Snapc1 |
T |
C |
12: 74,017,115 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,032,925 (GRCm39) |
V994A |
probably damaging |
Het |
| Synpo2 |
T |
C |
3: 122,911,366 (GRCm39) |
E93G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,341 (GRCm39) |
T985A |
unknown |
Het |
| Vmn1r18 |
T |
C |
6: 57,367,463 (GRCm39) |
I30M |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,440,598 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,081 (GRCm39) |
V251A |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,659,311 (GRCm39) |
I200N |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATTAAGCCTGAACCCTCCTTTGG -3'
(R):5'- CTGCAGACAAACAGCTGCTTATAG -3'
Sequencing Primer
(F):5'- TGAACCCTCCTTTGGAAGCAG -3'
(R):5'- CAGCTGCTTATAGTGGCAAATGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation