Incidental Mutation 'R4531:Cnot3'
| ID |
333112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot3
|
| Ensembl Gene |
ENSMUSG00000035632 |
| Gene Name |
CCR4-NOT transcription complex, subunit 3 |
| Synonyms |
A930039N10Rik |
| MMRRC Submission |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3648267-3664108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3661073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 558
(V558A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019878]
[ENSMUST00000038913]
[ENSMUST00000160200]
|
| AlphaFold |
Q8K0V4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019878
|
| SMART Domains |
Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813
| Domain | Start | End | E-Value | Type |
|---|
|
Cir_N
|
8 |
44 |
2.43e-9 |
SMART |
|
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
198 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038913
AA Change: V558A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: V558A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Not3
|
3 |
232 |
6.5e-99 |
PFAM |
|
low complexity region
|
257 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
587 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
618 |
745 |
3.7e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132344
|
| SMART Domains |
Protein: ENSMUSP00000117297
Gene: ENSMUSG00000035632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Not3
|
1 |
189 |
8.9e-77 |
PFAM |
|
low complexity region
|
214 |
231 |
N/A |
INTRINSIC |
|
SCOP:d1cpo_2
|
260 |
335 |
7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135977
|
| SMART Domains |
Protein: ENSMUSP00000118822
Gene: ENSMUSG00000035632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Not3
|
1 |
78 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143085
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160200
|
| SMART Domains |
Protein: ENSMUSP00000124810
Gene: ENSMUSG00000035632
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOT2_3_5
|
1 |
83 |
3.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175549
|
| Meta Mutation Damage Score |
0.0698 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show defective outgrowth of the inner cell mass and complete embryonic lethality at implantation. Heterozygotes exhibit decreased cardiac muscle contractility and develop severe cardiomyopathy leading to heart failure in response to pressure overload. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cnot3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Cnot3
|
APN |
7 |
3,653,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Cnot3
|
APN |
7 |
3,661,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02476:Cnot3
|
APN |
7 |
3,661,067 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03102:Cnot3
|
APN |
7 |
3,659,155 (GRCm39) |
nonsense |
probably null |
|
|
IGL03181:Cnot3
|
APN |
7 |
3,656,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
secondary
|
UTSW |
7 |
3,654,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4564:Cnot3
|
UTSW |
7 |
3,656,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Cnot3
|
UTSW |
7 |
3,653,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5649:Cnot3
|
UTSW |
7 |
3,661,082 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5869:Cnot3
|
UTSW |
7 |
3,647,929 (GRCm39) |
unclassified |
probably benign |
|
|
R6120:Cnot3
|
UTSW |
7 |
3,648,335 (GRCm39) |
splice site |
probably null |
|
|
R6759:Cnot3
|
UTSW |
7 |
3,654,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Cnot3
|
UTSW |
7 |
3,648,479 (GRCm39) |
start gained |
probably benign |
|
|
R7369:Cnot3
|
UTSW |
7 |
3,656,330 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7860:Cnot3
|
UTSW |
7 |
3,658,565 (GRCm39) |
splice site |
probably null |
|
|
R7957:Cnot3
|
UTSW |
7 |
3,661,221 (GRCm39) |
missense |
probably benign |
|
|
R8172:Cnot3
|
UTSW |
7 |
3,661,724 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8415:Cnot3
|
UTSW |
7 |
3,661,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8693:Cnot3
|
UTSW |
7 |
3,656,522 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8983:Cnot3
|
UTSW |
7 |
3,654,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Cnot3
|
UTSW |
7 |
3,661,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9388:Cnot3
|
UTSW |
7 |
3,661,367 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9440:Cnot3
|
UTSW |
7 |
3,656,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Cnot3
|
UTSW |
7 |
3,659,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cnot3
|
UTSW |
7 |
3,654,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTGTACAGAGCCTATCAGG -3'
(R):5'- TGTTCACCTCTGACAGCTG -3'
Sequencing Primer
(F):5'- AATTGAACTCGGGACCTCTG -3'
(R):5'- ACCTCTGACAGCTGCAGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation