Incidental Mutation 'IGL00834:Cnot3'
| ID |
9758 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnot3
|
| Ensembl Gene |
ENSMUSG00000035632 |
| Gene Name |
CCR4-NOT transcription complex, subunit 3 |
| Synonyms |
A930039N10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3648267-3664108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3653854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 2
(A2V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038913]
[ENSMUST00000206287]
|
| AlphaFold |
Q8K0V4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038913
AA Change: A2V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039098
Gene: ENSMUSG00000035632
AA Change: A2V
| 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 |
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: ENSMUST00000206287
AA Change: A2V
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206331
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
| Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
| App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
| Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
| Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
| B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
| Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
| Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
| Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
| Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
| Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
| Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
| Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
| Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
| Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
| Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cnot3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4531:Cnot3
|
UTSW |
7 |
3,661,073 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation