Incidental Mutation 'R8310:Cnot6l'
| ID |
641316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot6l
|
| Ensembl Gene |
ENSMUSG00000034724 |
| Gene Name |
CCR4-NOT transcription complex, subunit 6-like |
| Synonyms |
4932442K20Rik |
| MMRRC Submission |
067795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.549)
|
| Stock # |
R8310 (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 96239535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 255
(D255E)
|
| 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 benign
Transcript: ENSMUST00000113005
AA Change: D260E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108629
Gene: ENSMUSG00000034724
AA Change: D260E
| 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
AA Change: D255E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113821
Gene: ENSMUSG00000034724
AA Change: D255E
| 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 benign
Transcript: ENSMUST00000155901
AA Change: D255E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119415
Gene: ENSMUSG00000034724
AA Change: D255E
| 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 |
0.0861 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
| Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
| Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
| Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,956,730 (GRCm39) |
E510G |
probably damaging |
Het |
| Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
| Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
| Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
| Kcnn1 |
A |
T |
8: 71,305,449 (GRCm39) |
S254T |
possibly damaging |
Het |
| Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
| Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
| Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
| Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
| Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
| Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
| Psd2 |
A |
T |
18: 36,112,766 (GRCm39) |
S154C |
probably damaging |
Het |
| Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
| Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
| Tars2 |
T |
A |
3: 95,658,271 (GRCm39) |
I185F |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
| Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,868,756 (GRCm39) |
T275I |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
| Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
| Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
| Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
probably 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 |
|
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'- GCAACCTCATAAAAGCAGGG -3'
(R):5'- GCACATGTCAAACACAATTGCTTG -3'
Sequencing Primer
(F):5'- CCAGGAAGGGGGCTAACATTTG -3'
(R):5'- ACAATTGCTTGTGATAAGATTGCTGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation