Incidental Mutation 'R8499:Cnot6l'
| ID |
658410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot6l
|
| Ensembl Gene |
ENSMUSG00000034724 |
| Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
| Synonyms |
4932442K20Rik |
| MMRRC Submission |
067941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R8499 (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 T
at 96225176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 506
(W506R)
|
| 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: W511R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: W511R
| 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 benign
Transcript: ENSMUST00000122003
|
| SMART Domains |
Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
| 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: W506R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: W506R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,189 (GRCm39) |
D485G |
probably damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
| Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
| Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,754,631 (GRCm39) |
F712I |
probably damaging |
Het |
| Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
| Cast |
A |
T |
13: 74,946,835 (GRCm39) |
H26Q |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
| Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
| Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
| Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,068 (GRCm39) |
F249L |
probably benign |
Het |
| Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
| Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
| H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
| H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
| H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
| Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
| Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
| Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
| Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
| Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
| Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
| Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
| Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
| Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
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 |
|
|
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 |
|
|
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'- CAGGTCCATAGCGACAGATC -3'
(R):5'- TCTACAGTCAGAGTAACAGGTATCG -3'
Sequencing Primer
(F):5'- TAGCGACAGATCCCCGTCTC -3'
(R):5'- ACAGGTATCGGGAATTACAGGTTTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation