Incidental Mutation 'IGL02035:Cnot4'
ID |
184493 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnot4
|
Ensembl Gene |
ENSMUSG00000038784 |
Gene Name |
CCR4-NOT transcription complex, subunit 4 |
Synonyms |
Not4h, Not4hp, Not4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02035
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35047186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 142
(V142D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
AlphaFold |
Q8BT14 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044163
AA Change: V142D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044137 Gene: ENSMUSG00000038784 AA Change: V142D
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
4.14e-1 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
RRM
|
110 |
189 |
6.41e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114989
AA Change: V142D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110640 Gene: ENSMUSG00000038784 AA Change: V142D
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
4.14e-1 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
RRM
|
110 |
189 |
6.41e-2 |
SMART |
low complexity region
|
537 |
549 |
N/A |
INTRINSIC |
low complexity region
|
576 |
590 |
N/A |
INTRINSIC |
low complexity region
|
602 |
617 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114993
AA Change: V142D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110645 Gene: ENSMUSG00000038784 AA Change: V142D
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
4.14e-1 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
RRM
|
110 |
189 |
6.41e-2 |
SMART |
low complexity region
|
572 |
592 |
N/A |
INTRINSIC |
low complexity region
|
644 |
658 |
N/A |
INTRINSIC |
low complexity region
|
670 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202143
AA Change: V142D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144352 Gene: ENSMUSG00000038784 AA Change: V142D
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
4.14e-1 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
RRM
|
110 |
189 |
6.41e-2 |
SMART |
low complexity region
|
534 |
546 |
N/A |
INTRINSIC |
low complexity region
|
573 |
587 |
N/A |
INTRINSIC |
low complexity region
|
599 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202417
AA Change: V142D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144409 Gene: ENSMUSG00000038784 AA Change: V142D
Domain | Start | End | E-Value | Type |
RING
|
14 |
56 |
4.14e-1 |
SMART |
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
RRM
|
110 |
189 |
6.41e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202666
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
Atl1 |
A |
G |
12: 70,007,318 (GRCm39) |
|
probably benign |
Het |
Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cnot4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01328:Cnot4
|
APN |
6 |
35,055,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01341:Cnot4
|
APN |
6 |
35,047,189 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01346:Cnot4
|
APN |
6 |
35,047,183 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01775:Cnot4
|
APN |
6 |
35,046,411 (GRCm39) |
splice site |
probably benign |
|
IGL02167:Cnot4
|
APN |
6 |
35,033,159 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02227:Cnot4
|
APN |
6 |
35,028,198 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03136:Cnot4
|
APN |
6 |
35,028,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03230:Cnot4
|
APN |
6 |
35,028,344 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Cnot4
|
APN |
6 |
35,001,158 (GRCm39) |
missense |
probably benign |
|
R0049:Cnot4
|
UTSW |
6 |
35,028,212 (GRCm39) |
missense |
probably benign |
|
R0049:Cnot4
|
UTSW |
6 |
35,028,212 (GRCm39) |
missense |
probably benign |
|
R0597:Cnot4
|
UTSW |
6 |
35,028,438 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1518:Cnot4
|
UTSW |
6 |
35,028,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R1883:Cnot4
|
UTSW |
6 |
35,055,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R1884:Cnot4
|
UTSW |
6 |
35,055,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R1992:Cnot4
|
UTSW |
6 |
35,000,344 (GRCm39) |
missense |
probably benign |
|
R3500:Cnot4
|
UTSW |
6 |
35,057,076 (GRCm39) |
start gained |
probably benign |
|
R4738:Cnot4
|
UTSW |
6 |
35,028,311 (GRCm39) |
missense |
probably benign |
0.28 |
R5029:Cnot4
|
UTSW |
6 |
35,054,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R5247:Cnot4
|
UTSW |
6 |
35,028,351 (GRCm39) |
missense |
probably damaging |
0.96 |
R5534:Cnot4
|
UTSW |
6 |
35,054,939 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5602:Cnot4
|
UTSW |
6 |
35,028,464 (GRCm39) |
nonsense |
probably null |
|
R6236:Cnot4
|
UTSW |
6 |
35,045,608 (GRCm39) |
missense |
probably benign |
0.33 |
R6701:Cnot4
|
UTSW |
6 |
35,045,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Cnot4
|
UTSW |
6 |
35,046,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7360:Cnot4
|
UTSW |
6 |
35,041,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R7479:Cnot4
|
UTSW |
6 |
35,001,083 (GRCm39) |
missense |
probably benign |
0.00 |
R7574:Cnot4
|
UTSW |
6 |
35,029,939 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8063:Cnot4
|
UTSW |
6 |
35,045,578 (GRCm39) |
missense |
probably damaging |
0.98 |
R8137:Cnot4
|
UTSW |
6 |
35,023,222 (GRCm39) |
missense |
unknown |
|
R8312:Cnot4
|
UTSW |
6 |
35,000,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R8407:Cnot4
|
UTSW |
6 |
35,033,154 (GRCm39) |
missense |
probably benign |
0.24 |
R9380:Cnot4
|
UTSW |
6 |
35,029,865 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9508:Cnot4
|
UTSW |
6 |
35,045,554 (GRCm39) |
missense |
|
|
R9773:Cnot4
|
UTSW |
6 |
35,056,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |