Incidental Mutation 'IGL00791:Cnot9'
| ID |
13868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnot9
|
| Ensembl Gene |
ENSMUSG00000026174 |
| Gene Name |
CCR4-NOT transcription complex, subunit 9 |
| Synonyms |
2610007F23Rik, Rqcd1, FL10 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74545217-74570001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74561533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
| 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: V126A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084466
Gene: ENSMUSG00000026174
AA Change: V126A
| 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 |
noncoding transcript
Transcript: ENSMUST00000147810
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
| Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
| Ceacam13 |
A |
G |
7: 17,747,278 (GRCm39) |
T244A |
possibly damaging |
Het |
| Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
| Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
| Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,284 (GRCm39) |
I53N |
possibly damaging |
Het |
| Hexd |
A |
G |
11: 121,111,986 (GRCm39) |
S427G |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,335,867 (GRCm39) |
V195E |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,379,749 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
| Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
| Other mutations in Cnot9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6060:Cnot9
|
UTSW |
1 |
74,556,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation