Incidental Mutation 'R7639:Cnot7'
| ID |
590132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot7
|
| Ensembl Gene |
ENSMUSG00000031601 |
| Gene Name |
CCR4-NOT transcription complex, subunit 7 |
| Synonyms |
Caf1 |
| MMRRC Submission |
045697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R7639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
40945581-40968888 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40960494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034012]
[ENSMUST00000098817]
[ENSMUST00000128166]
[ENSMUST00000132032]
[ENSMUST00000135269]
[ENSMUST00000149992]
|
| AlphaFold |
Q60809 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034012
|
| SMART Domains |
Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601
| 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 |
probably null
Transcript: ENSMUST00000132032
|
| SMART Domains |
Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601
| 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 null
Transcript: ENSMUST00000135269
|
| SMART Domains |
Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
13 |
245 |
7e-66 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000149992
|
| SMART Domains |
Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
13 |
240 |
3.4e-73 |
PFAM |
|
low complexity region
|
259 |
268 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,977,531 (GRCm39) |
M381L |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,669,173 (GRCm39) |
L184Q |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,697,614 (GRCm39) |
V410A |
possibly damaging |
Het |
| Bhmt2 |
C |
T |
13: 93,799,822 (GRCm39) |
G205R |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,502 (GRCm39) |
D405G |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,648 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
T |
4: 45,928,043 (GRCm39) |
I1193F |
possibly damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,143 (GRCm39) |
C478R |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,814,073 (GRCm39) |
E1950K |
probably benign |
Het |
| Defa34 |
A |
T |
8: 22,155,883 (GRCm39) |
K24I |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,582,769 (GRCm39) |
D136Y |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,141,254 (GRCm39) |
V1258F |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,716 (GRCm39) |
S1181P |
probably damaging |
Het |
| Evl |
A |
G |
12: 108,652,362 (GRCm39) |
D366G |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,798 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,018,134 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
T |
A |
7: 18,870,560 (GRCm39) |
V393E |
probably damaging |
Het |
| Gkap1 |
T |
G |
13: 58,411,784 (GRCm39) |
K63T |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,037,791 (GRCm39) |
D742V |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,046,341 (GRCm39) |
V515A |
possibly damaging |
Het |
| Itga10 |
G |
A |
3: 96,556,898 (GRCm39) |
V207I |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,357,743 (GRCm39) |
Y274F |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,526 (GRCm39) |
S36R |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,021 (GRCm39) |
M244K |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,860 (GRCm39) |
N574S |
probably benign |
Het |
| Nlrc4 |
C |
T |
17: 74,754,952 (GRCm39) |
|
probably null |
Het |
| Oas2 |
C |
T |
5: 120,883,751 (GRCm39) |
W244* |
probably null |
Het |
| Oat |
A |
T |
7: 132,168,530 (GRCm39) |
I163N |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,206 (GRCm39) |
D192G |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,235,187 (GRCm39) |
M273T |
possibly damaging |
Het |
| Poln |
A |
C |
5: 34,290,495 (GRCm39) |
V60G |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,800,049 (GRCm39) |
A699E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,844,750 (GRCm39) |
M19K |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,184 (GRCm39) |
L89P |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,244 (GRCm39) |
S116P |
probably damaging |
Het |
| Rtn3 |
C |
T |
19: 7,435,356 (GRCm39) |
C212Y |
probably benign |
Het |
| Smcp |
G |
A |
3: 92,491,797 (GRCm39) |
P17S |
unknown |
Het |
| Syne2 |
A |
C |
12: 75,981,273 (GRCm39) |
E1525A |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,158 (GRCm39) |
D172G |
probably benign |
Het |
| Traf2 |
TAGA |
TA |
2: 25,427,100 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,957,137 (GRCm39) |
T760A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,840,450 (GRCm39) |
S134C |
probably damaging |
Het |
| Zfp729b |
C |
T |
13: 67,739,971 (GRCm39) |
V765I |
probably benign |
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 |
|
|
R6101:Cnot7
|
UTSW |
8 |
40,963,078 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CCCAGGTTTAATCTGCAGCAC -3'
(R):5'- TGCAAGACCCATTGGAGAATTC -3'
Sequencing Primer
(F):5'- CAGGTTTAATCTGCAGCACCTTAAAC -3'
(R):5'- ACCCATTGGAGAATTCAGAAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation