Incidental Mutation 'R8128:Cnot7'
ID |
631853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnot7
|
Ensembl Gene |
ENSMUSG00000031601 |
Gene Name |
CCR4-NOT transcription complex, subunit 7 |
Synonyms |
Caf1 |
MMRRC Submission |
067557-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.537)
|
Stock # |
R8128 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
40945581-40968888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40963129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 15
(V15A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034012]
[ENSMUST00000098817]
[ENSMUST00000128166]
[ENSMUST00000132032]
[ENSMUST00000135269]
[ENSMUST00000149992]
|
AlphaFold |
Q60809 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034012
AA Change: V15A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034012 Gene: ENSMUSG00000031601 AA Change: V15A
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 damaging
Transcript: ENSMUST00000132032
AA Change: V15A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122933 Gene: ENSMUSG00000031601 AA Change: V15A
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 damaging
Transcript: ENSMUST00000135269
AA Change: V15A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119319 Gene: ENSMUSG00000031601 AA Change: V15A
Domain | Start | End | E-Value | Type |
Pfam:CAF1
|
13 |
245 |
7e-66 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149992
AA Change: V15A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117304 Gene: ENSMUSG00000031601 AA Change: V15A
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: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
Validation Efficiency |
98% (42/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,784,940 (GRCm39) |
|
probably null |
Het |
Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
Igsf3 |
T |
A |
3: 101,346,947 (GRCm39) |
N627K |
probably damaging |
Het |
Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,583,032 (GRCm39) |
|
probably null |
Het |
Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,850,383 (GRCm39) |
I70T |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 73,934,049 (GRCm39) |
S708T |
probably damaging |
Het |
Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
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 |
|
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 |
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'- TGGTTTTAACAGCCCACTCC -3'
(R):5'- TTCAGTTGGGAAATCGGCG -3'
Sequencing Primer
(F):5'- CTATGCTTAAAAGGTGCATGGCCC -3'
(R):5'- ACCAGCCCAGTTTTATAATTCAC -3'
|
Posted On |
2020-06-30 |