Incidental Mutation 'R6101:Cnot7'
ID |
485258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot7
|
Ensembl Gene |
ENSMUSG00000031601 |
Gene Name |
CCR4-NOT transcription complex, subunit 7 |
Synonyms |
Caf1 |
MMRRC Submission |
044251-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.537)
|
Stock # |
R6101 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
40945581-40968888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40963078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 32
(R32Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034012]
[ENSMUST00000098817]
[ENSMUST00000128166]
[ENSMUST00000132032]
[ENSMUST00000149992]
[ENSMUST00000135269]
|
AlphaFold |
Q60809 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034012
AA Change: R32Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034012 Gene: ENSMUSG00000031601 AA Change: R32Q
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
15 |
139 |
9.1e-15 |
PFAM |
Pfam:CAF1
|
132 |
238 |
1.2e-14 |
PFAM |
low complexity region
|
259 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098817
|
SMART Domains |
Protein: ENSMUSP00000096415 Gene: ENSMUSG00000031600
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
Blast:UBCc
|
29 |
128 |
6e-6 |
BLAST |
low complexity region
|
155 |
164 |
N/A |
INTRINSIC |
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
Pfam:Mod_r
|
235 |
380 |
2.7e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128166
|
SMART Domains |
Protein: ENSMUSP00000123070 Gene: ENSMUSG00000039470
Domain | Start | End | E-Value | Type |
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
122 |
248 |
1.8e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128237
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132032
AA Change: R32Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122933 Gene: ENSMUSG00000031601 AA Change: R32Q
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
240 |
3.4e-73 |
PFAM |
low complexity region
|
259 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132740
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149992
AA Change: R32Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117304 Gene: ENSMUSG00000031601 AA Change: R32Q
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
240 |
3.4e-73 |
PFAM |
low complexity region
|
259 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135269
AA Change: R32Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119319 Gene: ENSMUSG00000031601 AA Change: R32Q
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
245 |
7e-66 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146280
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144970
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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 binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016] PHENOTYPE: Homozygous null mice display male sterility with oligo-teratozoospermia, impaired sperm motility, unsynchronized spermatid maturation, and Sertoli cell abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably damaging |
Het |
|
Other mutations in Cnot7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01474:Cnot7
|
APN |
8 |
40,960,490 (GRCm39) |
splice site |
probably null |
|
IGL02022:Cnot7
|
APN |
8 |
40,952,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02191:Cnot7
|
APN |
8 |
40,963,068 (GRCm39) |
missense |
probably benign |
0.33 |
R0047:Cnot7
|
UTSW |
8 |
40,948,962 (GRCm39) |
splice site |
probably benign |
|
R0047:Cnot7
|
UTSW |
8 |
40,948,962 (GRCm39) |
splice site |
probably benign |
|
R0166:Cnot7
|
UTSW |
8 |
40,960,494 (GRCm39) |
critical splice donor site |
probably null |
|
R3884:Cnot7
|
UTSW |
8 |
40,963,171 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R5369:Cnot7
|
UTSW |
8 |
40,947,061 (GRCm39) |
missense |
probably benign |
0.12 |
R5991:Cnot7
|
UTSW |
8 |
40,948,696 (GRCm39) |
splice site |
probably null |
|
R6105:Cnot7
|
UTSW |
8 |
40,963,078 (GRCm39) |
missense |
probably benign |
|
R7299:Cnot7
|
UTSW |
8 |
40,960,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Cnot7
|
UTSW |
8 |
40,953,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7639:Cnot7
|
UTSW |
8 |
40,960,494 (GRCm39) |
critical splice donor site |
probably null |
|
R7712:Cnot7
|
UTSW |
8 |
40,947,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Cnot7
|
UTSW |
8 |
40,960,514 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8128:Cnot7
|
UTSW |
8 |
40,963,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R8757:Cnot7
|
UTSW |
8 |
40,947,080 (GRCm39) |
missense |
probably benign |
|
R9251:Cnot7
|
UTSW |
8 |
40,964,622 (GRCm39) |
unclassified |
probably benign |
|
Z1088:Cnot7
|
UTSW |
8 |
40,953,780 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATGGTTTTAACAGCCCACTCC -3'
(R):5'- TTTCAACAGGTGCATAAGTAAAGGG -3'
Sequencing Primer
(F):5'- CTATGCTTAAAAGGTGCATGGCCC -3'
(R):5'- CAGGTGCATAAGTAAAGGGTAAAG -3'
|
Posted On |
2017-08-16 |