Incidental Mutation 'IGL01474:Cnot7'
| ID |
88405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnot7
|
| Ensembl Gene |
ENSMUSG00000031601 |
| Gene Name |
CCR4-NOT transcription complex, subunit 7 |
| Synonyms |
Caf1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
40945581-40968888 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40960490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117304
(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 |
noncoding transcript
Transcript: ENSMUST00000128237
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000132200
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132740
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000144970
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146280
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
T |
C |
5: 114,020,216 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Cnot7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation