Incidental Mutation 'R9773:Cnot4'
ID |
733524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot4
|
Ensembl Gene |
ENSMUSG00000038784 |
Gene Name |
CCR4-NOT transcription complex, subunit 4 |
Synonyms |
Not4h, Not4hp, Not4 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9773 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35056920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 50
(N50K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
AlphaFold |
Q8BT14 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044163
AA Change: N50K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044137 Gene: ENSMUSG00000038784 AA Change: N50K
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: N50K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110640 Gene: ENSMUSG00000038784 AA Change: N50K
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: N50K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110645 Gene: ENSMUSG00000038784 AA Change: N50K
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: N50K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144352 Gene: ENSMUSG00000038784 AA Change: N50K
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: N50K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144409 Gene: ENSMUSG00000038784 AA Change: N50K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,668,057 (GRCm39) |
Y483H |
possibly damaging |
Het |
Abca17 |
A |
G |
17: 24,508,565 (GRCm39) |
L990P |
probably damaging |
Het |
Ankrd65 |
A |
C |
4: 155,877,424 (GRCm39) |
T312P |
probably damaging |
Het |
Atp23 |
G |
A |
10: 126,734,763 (GRCm39) |
T103M |
possibly damaging |
Het |
Bmpr2 |
T |
A |
1: 59,907,497 (GRCm39) |
S863R |
probably damaging |
Het |
Cacna1c |
T |
A |
6: 118,647,371 (GRCm39) |
N992I |
|
Het |
Cacnb2 |
A |
G |
2: 14,976,452 (GRCm39) |
E291G |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,200,462 (GRCm39) |
Q106R |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Cngb1 |
G |
A |
8: 95,975,042 (GRCm39) |
H1144Y |
probably damaging |
Het |
Coasy |
T |
C |
11: 100,975,163 (GRCm39) |
L240P |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,959,803 (GRCm39) |
T12M |
probably benign |
Het |
Exoc3l2 |
A |
G |
7: 19,203,697 (GRCm39) |
I96M |
|
Het |
Fbn2 |
A |
G |
18: 58,143,481 (GRCm39) |
L2858P |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,977,128 (GRCm39) |
S194P |
possibly damaging |
Het |
Fry |
T |
C |
5: 150,322,728 (GRCm39) |
L1040P |
probably damaging |
Het |
Gimap8 |
C |
T |
6: 48,633,568 (GRCm39) |
P300S |
unknown |
Het |
Gm10801 |
T |
G |
2: 98,494,345 (GRCm39) |
F141V |
probably benign |
Het |
Gm21903 |
G |
A |
17: 39,353,541 (GRCm39) |
T25I |
unknown |
Het |
Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
Hs6st3 |
A |
T |
14: 120,106,948 (GRCm39) |
D452V |
probably benign |
Het |
Igkv5-43 |
T |
A |
6: 69,752,858 (GRCm39) |
I75F |
probably damaging |
Het |
Itgad |
G |
A |
7: 127,789,222 (GRCm39) |
R562H |
probably damaging |
Het |
Kbtbd12 |
T |
A |
6: 88,524,744 (GRCm39) |
D613V |
probably damaging |
Het |
Kcnn2 |
A |
G |
18: 45,788,365 (GRCm39) |
T363A |
probably damaging |
Het |
Kyat3 |
A |
G |
3: 142,431,820 (GRCm39) |
I213M |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,368,838 (GRCm39) |
H948Q |
probably benign |
Het |
Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,137,263 (GRCm39) |
H495Y |
probably damaging |
Het |
Or13a23-ps1 |
T |
C |
7: 140,118,649 (GRCm39) |
V73A |
probably benign |
Het |
Or4d10b |
A |
T |
19: 12,036,939 (GRCm39) |
M59K |
possibly damaging |
Het |
Or6c69c |
T |
A |
10: 129,910,360 (GRCm39) |
I27N |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,274 (GRCm39) |
E1021G |
probably damaging |
Het |
Plekhg2 |
G |
A |
7: 28,069,743 (GRCm39) |
P97S |
probably damaging |
Het |
Pon1 |
T |
C |
6: 5,177,339 (GRCm39) |
Y190C |
possibly damaging |
Het |
Pth1r |
C |
A |
9: 110,556,233 (GRCm39) |
R213S |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,199,806 (GRCm38) |
D848G |
probably damaging |
Het |
Rnpepl1 |
C |
A |
1: 92,847,559 (GRCm39) |
D715E |
probably damaging |
Het |
Serpinb3b |
C |
A |
1: 107,085,416 (GRCm39) |
K108N |
possibly damaging |
Het |
Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
Slc22a30 |
A |
T |
19: 8,321,754 (GRCm39) |
Y437N |
probably benign |
Het |
Slc2a7 |
C |
T |
4: 150,234,044 (GRCm39) |
T53I |
possibly damaging |
Het |
Spag1 |
A |
G |
15: 36,234,711 (GRCm39) |
T824A |
probably benign |
Het |
Spmip7 |
G |
A |
11: 11,438,572 (GRCm39) |
V272M |
unknown |
Het |
Synj2 |
T |
A |
17: 6,094,232 (GRCm39) |
Y1153N |
probably benign |
Het |
Ttll2 |
A |
T |
17: 7,618,676 (GRCm39) |
I417K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Uevld |
A |
G |
7: 46,597,659 (GRCm39) |
|
probably null |
Het |
Vmn2r38 |
A |
G |
7: 9,097,806 (GRCm39) |
S96P |
probably damaging |
Het |
Vmn2r92 |
A |
G |
17: 18,386,949 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,168,221 (GRCm39) |
I825N |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,818,619 (GRCm39) |
M3083L |
|
Het |
Wdr35 |
A |
G |
12: 9,039,990 (GRCm39) |
N365S |
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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GATAGCTAGTTAACACAACAAAGGC -3'
(R):5'- AGCTCTCAGTGCTGAATTACCTTC -3'
Sequencing Primer
(F):5'- GCAACATCTGGCCTTGGCTC -3'
(R):5'- TAAACTTTTGCTGCTGTCATATAAAC -3'
|
Posted On |
2022-11-14 |