Incidental Mutation 'R5602:Cnot4'
ID |
439072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot4
|
Ensembl Gene |
ENSMUSG00000038784 |
Gene Name |
CCR4-NOT transcription complex, subunit 4 |
Synonyms |
Not4h, Not4hp, Not4 |
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
34999000-35110646 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 35028464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 384
(W384*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044163]
[ENSMUST00000114989]
[ENSMUST00000114993]
[ENSMUST00000202143]
[ENSMUST00000202417]
|
AlphaFold |
Q8BT14 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044163
AA Change: W387*
|
SMART Domains |
Protein: ENSMUSP00000044137 Gene: ENSMUSG00000038784 AA Change: W387*
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 null
Transcript: ENSMUST00000114989
AA Change: W387*
|
SMART Domains |
Protein: ENSMUSP00000110640 Gene: ENSMUSG00000038784 AA Change: W387*
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 null
Transcript: ENSMUST00000114993
AA Change: W384*
|
SMART Domains |
Protein: ENSMUSP00000110645 Gene: ENSMUSG00000038784 AA Change: W384*
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 null
Transcript: ENSMUST00000202143
AA Change: W384*
|
SMART Domains |
Protein: ENSMUSP00000144352 Gene: ENSMUSG00000038784 AA Change: W384*
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 null
Transcript: ENSMUST00000202417
AA Change: W384*
|
SMART Domains |
Protein: ENSMUSP00000144409 Gene: ENSMUSG00000038784 AA Change: W384*
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
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 |
|
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 |
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'- TTGTAGGTGCAGCAGAGTGC -3'
(R):5'- CTACTAGAAATTGATGAGGTCCTCTG -3'
Sequencing Primer
(F):5'- TGCAGGAATCCAGAGCCTG -3'
(R):5'- GGTCCTCTGGAACTAATGATCTTAAC -3'
|
Posted On |
2016-10-26 |