Incidental Mutation 'R6060:Cnot9'
| ID |
483158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot9
|
| Ensembl Gene |
ENSMUSG00000026174 |
| Gene Name |
CCR4-NOT transcription complex, subunit 9 |
| Synonyms |
2610007F23Rik, Rqcd1, FL10 |
| MMRRC Submission |
044426-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74545217-74570001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74556285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 27
(N27K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087215]
[ENSMUST00000189257]
|
| AlphaFold |
Q9JKY0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087215
AA Change: N27K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: N27K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:Rcd1
|
25 |
283 |
2e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189257
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3U12|B
|
4 |
125 |
2e-71 |
PDB |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:UCH_1
|
341 |
608 |
4.3e-19 |
PFAM |
|
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
|
UIM
|
704 |
723 |
1.33e1 |
SMART |
|
UIM
|
806 |
825 |
1.04e-1 |
SMART |
|
UIM
|
828 |
847 |
2.11e-2 |
SMART |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1153 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Embryos homozygous for an ENU-induced allele exhibit abnormal nervous system and brain morphology, cranioedema, and caudal body truncation. Mice carrying a targeted allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
G |
16: 88,966,630 (GRCm39) |
|
probably null |
Het |
| Adh1 |
T |
C |
3: 137,992,544 (GRCm39) |
I220T |
probably damaging |
Het |
| Ajap1 |
G |
A |
4: 153,516,699 (GRCm39) |
T214I |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,749,601 (GRCm39) |
F476S |
probably damaging |
Het |
| Atp6v1g3 |
A |
G |
1: 138,201,582 (GRCm39) |
K27E |
possibly damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,245 (GRCm39) |
I291T |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,153,857 (GRCm39) |
L244* |
probably null |
Het |
| Cyp2d22 |
T |
C |
15: 82,260,086 (GRCm39) |
T6A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,107,799 (GRCm39) |
E1829G |
probably damaging |
Het |
| Dnajc4 |
G |
T |
19: 6,968,093 (GRCm39) |
S61* |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,669,324 (GRCm39) |
M1V |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,811,799 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,710,489 (GRCm39) |
E547G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,727,472 (GRCm39) |
F127I |
possibly damaging |
Het |
| Ifi207 |
G |
A |
1: 173,558,093 (GRCm39) |
T215I |
unknown |
Het |
| Iftap |
T |
C |
2: 101,440,950 (GRCm39) |
K18E |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,810,489 (GRCm39) |
L311P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,640,946 (GRCm39) |
N3499K |
|
Het |
| Mknk2 |
A |
T |
10: 80,507,468 (GRCm39) |
D76E |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,451,700 (GRCm39) |
Y445N |
probably damaging |
Het |
| Ngb |
A |
C |
12: 87,146,963 (GRCm39) |
S85A |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,224,419 (GRCm39) |
H727Q |
probably damaging |
Het |
| Or5b112 |
C |
T |
19: 13,319,497 (GRCm39) |
A125V |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,907 (GRCm39) |
C189* |
probably null |
Het |
| Pold3 |
A |
C |
7: 99,749,819 (GRCm39) |
Y115* |
probably null |
Het |
| Ppp1r12b |
C |
G |
1: 134,883,262 (GRCm39) |
V87L |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,042 (GRCm39) |
N224S |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,821,571 (GRCm39) |
P122S |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,612 (GRCm39) |
H400R |
possibly damaging |
Het |
| Rnf32 |
A |
T |
5: 29,411,752 (GRCm39) |
I214L |
probably benign |
Het |
| Safb2 |
A |
T |
17: 56,870,246 (GRCm39) |
|
probably null |
Het |
| Serpinb6e |
A |
G |
13: 34,025,256 (GRCm39) |
C12R |
possibly damaging |
Het |
| Sh2b2 |
A |
T |
5: 136,261,209 (GRCm39) |
N2K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,672,338 (GRCm39) |
A821V |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,767,972 (GRCm39) |
M179V |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,299,004 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,522,918 (GRCm39) |
V1450I |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,333,331 (GRCm39) |
N642S |
possibly damaging |
Het |
| Ttll13 |
G |
A |
7: 79,908,491 (GRCm39) |
R576H |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,738,272 (GRCm39) |
R43S |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,355,257 (GRCm39) |
Y175C |
probably damaging |
Het |
|
| Other mutations in Cnot9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Cnot9
|
APN |
1 |
74,561,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02066:Cnot9
|
APN |
1 |
74,566,212 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Icebreaker
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1495:Cnot9
|
UTSW |
1 |
74,562,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Cnot9
|
UTSW |
1 |
74,568,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6165:Cnot9
|
UTSW |
1 |
74,567,952 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6914:Cnot9
|
UTSW |
1 |
74,558,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Cnot9
|
UTSW |
1 |
74,558,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Cnot9
|
UTSW |
1 |
74,566,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Cnot9
|
UTSW |
1 |
74,556,388 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7514:Cnot9
|
UTSW |
1 |
74,567,921 (GRCm39) |
missense |
probably benign |
|
|
R7772:Cnot9
|
UTSW |
1 |
74,566,151 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9000:Cnot9
|
UTSW |
1 |
74,561,544 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9065:Cnot9
|
UTSW |
1 |
74,558,142 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:Cnot9
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Cnot9
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Cnot9
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Cnot9
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGGTCCATATCATACAACGAC -3'
(R):5'- ACTTGTGACAAACATGACTGAC -3'
Sequencing Primer
(F):5'- GCTCATTAGCTGTCAAACAGG -3'
(R):5'- AACATGACTGACTTCCTACTTGTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation