Incidental Mutation 'IGL03230:Cnot4'
| ID |
413860 |
| 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 # |
IGL03230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35028344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 424
(D424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
| AlphaFold |
Q8BT14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044163
AA Change: D427G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
AA Change: D427G
| 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: D427G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
AA Change: D427G
| 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: D424G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
AA Change: D424G
| 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 |
noncoding transcript
Transcript: ENSMUST00000200743
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202143
AA Change: D424G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
AA Change: D424G
| 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: D424G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
AA Change: D424G
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,244,313 (GRCm39) |
Q2059K |
probably benign |
Het |
| Abcc1 |
A |
T |
16: 14,275,811 (GRCm39) |
T902S |
probably benign |
Het |
| Acly |
A |
T |
11: 100,384,885 (GRCm39) |
C623S |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,599,935 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,918,065 (GRCm39) |
D1811G |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,395,522 (GRCm39) |
K8N |
possibly damaging |
Het |
| Cdc25b |
T |
C |
2: 131,030,060 (GRCm39) |
F79L |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,969,056 (GRCm39) |
V471D |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,729,017 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,172,302 (GRCm39) |
R406W |
possibly damaging |
Het |
| Cyp2g1 |
C |
A |
7: 26,518,828 (GRCm39) |
P408Q |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,314 (GRCm39) |
D39G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,992,023 (GRCm39) |
S3020T |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,223,133 (GRCm39) |
K1119* |
probably null |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,248,519 (GRCm39) |
I94N |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,400,948 (GRCm39) |
A461T |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,724 (GRCm39) |
I52T |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,090,550 (GRCm39) |
M1146K |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,653,293 (GRCm39) |
T293K |
probably benign |
Het |
| Luzp1 |
G |
A |
4: 136,270,189 (GRCm39) |
S804N |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 10,002,221 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,972,976 (GRCm39) |
A403S |
possibly damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,435 (GRCm39) |
I132T |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,296,710 (GRCm39) |
N103K |
probably damaging |
Het |
| Nipal2 |
T |
A |
15: 34,575,702 (GRCm39) |
D352V |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,036,419 (GRCm39) |
K336I |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,075,115 (GRCm39) |
S392P |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,911 (GRCm39) |
L99P |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,099 (GRCm39) |
T40A |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,955,892 (GRCm39) |
F61S |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,001,433 (GRCm39) |
M41K |
possibly damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,457 (GRCm39) |
T287A |
probably benign |
Het |
| Or5m8 |
A |
T |
2: 85,822,583 (GRCm39) |
T141S |
probably benign |
Het |
| Pate3 |
T |
G |
9: 35,557,402 (GRCm39) |
T85P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,174,791 (GRCm39) |
N1988D |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,272 (GRCm39) |
I92N |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,968,654 (GRCm39) |
R213* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,766 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,717,524 (GRCm39) |
D80G |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,230,531 (GRCm39) |
V472A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,707,760 (GRCm39) |
D485E |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,297 (GRCm39) |
V292A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,390 (GRCm39) |
A1485S |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,650 (GRCm39) |
R117S |
probably damaging |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,668 (GRCm39) |
P352H |
probably benign |
Het |
| Zxdc |
C |
T |
6: 90,350,785 (GRCm39) |
T412I |
probably damaging |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation