Incidental Mutation 'IGL01346:Cnot4'
ID |
75057 |
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 # |
IGL01346
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35047183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 143
(I143N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
AlphaFold |
Q8BT14 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044163
AA Change: I143N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044137 Gene: ENSMUSG00000038784 AA Change: I143N
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: I143N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110640 Gene: ENSMUSG00000038784 AA Change: I143N
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: I143N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110645 Gene: ENSMUSG00000038784 AA Change: I143N
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: I143N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144352 Gene: ENSMUSG00000038784 AA Change: I143N
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: I143N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144409 Gene: ENSMUSG00000038784 AA Change: I143N
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
probably null |
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 |
IGL01775:Cnot4
|
APN |
6 |
35,046,411 (GRCm39) |
splice site |
probably benign |
|
IGL02035:Cnot4
|
APN |
6 |
35,047,186 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |