Incidental Mutation 'IGL02167:Cnot4'
ID |
282761 |
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 # |
IGL02167
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35033159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 286
(D286G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
AlphaFold |
Q8BT14 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044163
AA Change: D289G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000044137 Gene: ENSMUSG00000038784 AA Change: D289G
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 benign
Transcript: ENSMUST00000114989
AA Change: D289G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000110640 Gene: ENSMUSG00000038784 AA Change: D289G
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 benign
Transcript: ENSMUST00000114993
AA Change: D286G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110645 Gene: ENSMUSG00000038784 AA Change: D286G
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 benign
Transcript: ENSMUST00000202143
AA Change: D286G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000144352 Gene: ENSMUSG00000038784 AA Change: D286G
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 |
possibly damaging
Transcript: ENSMUST00000202417
AA Change: D286G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144409 Gene: ENSMUSG00000038784 AA Change: D286G
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,122,721 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
T |
C |
X: 7,482,258 (GRCm39) |
Y581H |
probably damaging |
Het |
Camsap1 |
C |
T |
2: 25,824,312 (GRCm39) |
R1416H |
probably damaging |
Het |
Ccdc117 |
T |
C |
11: 5,481,333 (GRCm39) |
E266G |
possibly damaging |
Het |
Ccdc9 |
A |
T |
7: 16,018,284 (GRCm39) |
L8* |
probably null |
Het |
Cited2 |
T |
C |
10: 17,600,018 (GRCm39) |
S109P |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,908,568 (GRCm39) |
I52T |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,264,166 (GRCm39) |
N68S |
possibly damaging |
Het |
Cul4a |
T |
C |
8: 13,172,826 (GRCm39) |
F153S |
probably damaging |
Het |
Ddr1 |
T |
C |
17: 36,000,963 (GRCm39) |
S261G |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,061,145 (GRCm39) |
R324Q |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,857,135 (GRCm39) |
|
probably benign |
Het |
Epha8 |
A |
T |
4: 136,658,405 (GRCm39) |
M990K |
probably damaging |
Het |
Gpr137c |
G |
T |
14: 45,517,412 (GRCm39) |
G383C |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,145,055 (GRCm39) |
I802N |
possibly damaging |
Het |
Ifne |
A |
G |
4: 88,798,065 (GRCm39) |
Y118H |
possibly damaging |
Het |
Kansl2 |
T |
C |
15: 98,431,396 (GRCm39) |
|
probably benign |
Het |
Lig4 |
T |
A |
8: 10,021,821 (GRCm39) |
N653I |
probably benign |
Het |
Nagk |
A |
G |
6: 83,778,088 (GRCm39) |
D246G |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,398,699 (GRCm39) |
S628P |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,912,056 (GRCm39) |
Y1401C |
probably damaging |
Het |
Ndufa9 |
A |
G |
6: 126,821,748 (GRCm39) |
|
probably benign |
Het |
Nynrin |
G |
T |
14: 56,100,792 (GRCm39) |
R194L |
probably damaging |
Het |
Or10a4 |
A |
T |
7: 106,696,868 (GRCm39) |
R65S |
probably benign |
Het |
Or10ag53 |
G |
A |
2: 87,082,542 (GRCm39) |
C87Y |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,271,664 (GRCm39) |
V282D |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,522,798 (GRCm39) |
|
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,342 (GRCm39) |
R288S |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,338,045 (GRCm39) |
S450P |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
Prox1 |
T |
C |
1: 189,893,477 (GRCm39) |
N323D |
probably benign |
Het |
Prrt1 |
A |
C |
17: 34,850,829 (GRCm39) |
E215A |
possibly damaging |
Het |
Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
Sardh |
G |
T |
2: 27,081,987 (GRCm39) |
N846K |
probably damaging |
Het |
Slc38a8 |
T |
A |
8: 120,214,099 (GRCm39) |
T248S |
probably benign |
Het |
Slc6a18 |
T |
C |
13: 73,814,591 (GRCm39) |
|
probably null |
Het |
Smcp |
T |
C |
3: 92,491,506 (GRCm39) |
T114A |
unknown |
Het |
Trpv1 |
A |
G |
11: 73,145,623 (GRCm39) |
N754D |
probably damaging |
Het |
Txnrd1 |
A |
T |
10: 82,717,745 (GRCm39) |
H243L |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,109,023 (GRCm39) |
M125V |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,224,601 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
C |
8: 33,807,583 (GRCm39) |
M292V |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,189,140 (GRCm39) |
L20P |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,296 (GRCm39) |
H97R |
probably damaging |
Het |
Zfp68 |
T |
A |
5: 138,604,629 (GRCm39) |
M565L |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,917,841 (GRCm39) |
T644A |
probably benign |
Het |
Zfp777 |
C |
T |
6: 48,021,460 (GRCm39) |
G54D |
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 |
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 |
2015-04-16 |