Incidental Mutation 'BB020:Cpsf4'
| ID |
643118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf4
|
| Ensembl Gene |
ENSMUSG00000029625 |
| Gene Name |
cleavage and polyadenylation specific factor 4 |
| Synonyms |
30kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
BB020
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145104023-145118851 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 145104168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031628]
[ENSMUST00000070487]
[ENSMUST00000160422]
[ENSMUST00000160574]
[ENSMUST00000160629]
[ENSMUST00000161390]
[ENSMUST00000162244]
|
| AlphaFold |
Q8BQZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031628
|
| SMART Domains |
Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
Pfam:PPR_2
|
169 |
218 |
1.2e-16 |
PFAM |
|
Pfam:PPR
|
172 |
202 |
1.1e-9 |
PFAM |
|
Pfam:PPR_3
|
173 |
204 |
2.5e-5 |
PFAM |
|
Pfam:PPR_3
|
245 |
278 |
3.2e-5 |
PFAM |
|
Pfam:PPR
|
246 |
276 |
6.5e-4 |
PFAM |
|
internal_repeat_1
|
437 |
595 |
1.57e-9 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000070487
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069243
Gene: ENSMUSG00000029625
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
1.7e-5 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
1.4e-10 |
SMART |
|
ZnF_C3H1
|
90 |
110 |
3.7e-1 |
SMART |
|
ZnF_C3H1
|
111 |
136 |
3.4e-9 |
SMART |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
186 |
202 |
4.5e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160422
AA Change: M1K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125019
Gene: ENSMUSG00000029625
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
244 |
260 |
1.04e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160574
AA Change: M1K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160629
AA Change: M1K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124899
Gene: ENSMUSG00000029625
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
218 |
234 |
1.04e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160762
|
| SMART Domains |
Protein: ENSMUSP00000125640
Gene: ENSMUSG00000029625
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
29 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
30 |
56 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
58 |
84 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
86 |
110 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
111 |
136 |
8.27e-7 |
SMART |
|
low complexity region
|
143 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161390
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162244
AA Change: M1K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124966
Gene: ENSMUSG00000029625
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
35 |
61 |
4.17e-3 |
SMART |
|
ZnF_C3H1
|
62 |
88 |
3.41e-8 |
SMART |
|
ZnF_C3H1
|
90 |
116 |
6.42e-4 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
143 |
168 |
8.27e-7 |
SMART |
|
low complexity region
|
175 |
195 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
219 |
235 |
1.04e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
| Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
| Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
| Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,207,233 (GRCm39) |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
Het |
|
| Other mutations in Cpsf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB010:Cpsf4
|
UTSW |
5 |
145,104,168 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R0446:Cpsf4
|
UTSW |
5 |
145,114,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Cpsf4
|
UTSW |
5 |
145,115,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5813:Cpsf4
|
UTSW |
5 |
145,115,683 (GRCm39) |
missense |
probably benign |
|
|
R6958:Cpsf4
|
UTSW |
5 |
145,112,402 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7037:Cpsf4
|
UTSW |
5 |
145,112,939 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7933:Cpsf4
|
UTSW |
5 |
145,104,168 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R8814:Cpsf4
|
UTSW |
5 |
145,115,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Cpsf4
|
UTSW |
5 |
145,104,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTCAGGCCTGAAGGAGTG -3'
(R):5'- ATCCAAGGAAAGGTCTCCCC -3'
Sequencing Primer
(F):5'- ACTCTGAGCTCCGTTGGCTG -3'
(R):5'- AAAGGTCTCCCCGAGTTCAAGTG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation