Incidental Mutation 'R3500:Cnot4'
| ID |
273755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot4
|
| Ensembl Gene |
ENSMUSG00000038784 |
| Gene Name |
CCR4-NOT transcription complex, subunit 4 |
| Synonyms |
Not4h, Not4hp, Not4 |
| MMRRC Submission |
040663-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3500 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 35057076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000044137
Gene: ENSMUSG00000038784
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110640
Gene: ENSMUSG00000038784
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110645
Gene: ENSMUSG00000038784
| 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 benign
Transcript: ENSMUST00000202143
|
| SMART Domains |
Protein: ENSMUSP00000144352
Gene: ENSMUSG00000038784
| 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 benign
Transcript: ENSMUST00000202417
|
| SMART Domains |
Protein: ENSMUSP00000144409
Gene: ENSMUSG00000038784
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amhr2 |
A |
G |
15: 102,355,501 (GRCm39) |
D188G |
probably benign |
Het |
| Arl15 |
G |
A |
13: 114,104,228 (GRCm39) |
E102K |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,403,066 (GRCm39) |
R319C |
probably damaging |
Het |
| Cetn4 |
A |
T |
3: 37,364,109 (GRCm39) |
F34I |
probably benign |
Het |
| Chd8 |
G |
T |
14: 52,443,110 (GRCm39) |
H510N |
probably benign |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,269,929 (GRCm39) |
S251P |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,408,670 (GRCm39) |
C881S |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,872,905 (GRCm39) |
|
probably benign |
Het |
| Czib |
C |
T |
4: 107,748,710 (GRCm39) |
R83W |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,735,006 (GRCm39) |
M631T |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
| Fancb |
A |
G |
X: 163,779,104 (GRCm39) |
T721A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,151,342 (GRCm39) |
F3800S |
probably damaging |
Het |
| Fgd2 |
T |
C |
17: 29,584,575 (GRCm39) |
V173A |
possibly damaging |
Het |
| Gabrr1 |
T |
C |
4: 33,158,184 (GRCm39) |
|
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,437,982 (GRCm39) |
G390S |
possibly damaging |
Het |
| Gm9396 |
C |
A |
3: 129,862,144 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
C |
6: 63,480,383 (GRCm39) |
S66P |
probably damaging |
Het |
| Hdac9 |
C |
A |
12: 34,487,352 (GRCm39) |
M16I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,504,477 (GRCm39) |
D3610E |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,673 (GRCm39) |
M1K |
probably null |
Het |
| Ldhb |
T |
C |
6: 142,447,173 (GRCm39) |
D47G |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,740,275 (GRCm39) |
M1L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,035,061 (GRCm39) |
R205H |
probably damaging |
Het |
| Mob1b |
A |
G |
5: 88,897,479 (GRCm39) |
D129G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,588,431 (GRCm39) |
V2436A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,215,797 (GRCm39) |
N170S |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,345,931 (GRCm39) |
A848T |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,597,952 (GRCm39) |
R282* |
probably null |
Het |
| Or4c102 |
A |
G |
2: 88,422,285 (GRCm39) |
T46A |
probably damaging |
Het |
| Or4c119 |
C |
T |
2: 88,987,403 (GRCm39) |
G39R |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,421 (GRCm39) |
V245A |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,472 (GRCm39) |
F61L |
possibly damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,297 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,532 (GRCm39) |
L109* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,819,900 (GRCm39) |
D554G |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,587,273 (GRCm39) |
T252A |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,339,569 (GRCm39) |
H111R |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,002,692 (GRCm39) |
E130G |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,357,041 (GRCm39) |
A57V |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,210,531 (GRCm39) |
F95L |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,992,371 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,688,523 (GRCm39) |
K123N |
probably damaging |
Het |
| Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,136 (GRCm39) |
F788L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,628 (GRCm39) |
L29258F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,591,509 (GRCm39) |
F19307L |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,690,129 (GRCm39) |
I335T |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGACAAAGCCCATTCTC -3'
(R):5'- AACTGAGAACCCTTTACATCTCTCTTG -3'
Sequencing Primer
(F):5'- CATCAGTGCGAATTCGATGC -3'
(R):5'- TGCATCTGAAACTTAATAATGCCAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation