Incidental Mutation 'R6595:Cpsf1'
ID |
524893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
044719-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R6595 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76486710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 275
(I275M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: I275M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: I275M
Domain | Start | End | E-Value | Type |
Pfam:MMS1_N
|
92 |
684 |
7.2e-42 |
PFAM |
low complexity region
|
902 |
910 |
N/A |
INTRINSIC |
Pfam:CPSF_A
|
1071 |
1407 |
4.9e-94 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: I275M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
Het |
|
Other mutations in Cpsf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Cpsf1
|
APN |
15 |
76,484,416 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01013:Cpsf1
|
APN |
15 |
76,483,497 (GRCm39) |
nonsense |
probably null |
|
IGL01599:Cpsf1
|
APN |
15 |
76,480,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Cpsf1
|
APN |
15 |
76,487,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02291:Cpsf1
|
APN |
15 |
76,487,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02901:Cpsf1
|
APN |
15 |
76,483,696 (GRCm39) |
nonsense |
probably null |
|
IGL02929:Cpsf1
|
APN |
15 |
76,486,327 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03402:Cpsf1
|
APN |
15 |
76,480,203 (GRCm39) |
splice site |
probably null |
|
R0005:Cpsf1
|
UTSW |
15 |
76,484,880 (GRCm39) |
critical splice donor site |
probably null |
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
R0487:Cpsf1
|
UTSW |
15 |
76,481,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Cpsf1
|
UTSW |
15 |
76,487,857 (GRCm39) |
intron |
probably benign |
|
R0630:Cpsf1
|
UTSW |
15 |
76,486,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0780:Cpsf1
|
UTSW |
15 |
76,484,577 (GRCm39) |
missense |
probably benign |
0.17 |
R1617:Cpsf1
|
UTSW |
15 |
76,486,570 (GRCm39) |
nonsense |
probably null |
|
R1717:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1889:Cpsf1
|
UTSW |
15 |
76,486,356 (GRCm39) |
missense |
probably benign |
0.06 |
R1994:Cpsf1
|
UTSW |
15 |
76,487,360 (GRCm39) |
missense |
probably benign |
0.03 |
R2168:Cpsf1
|
UTSW |
15 |
76,487,937 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2359:Cpsf1
|
UTSW |
15 |
76,481,873 (GRCm39) |
missense |
probably benign |
0.02 |
R2697:Cpsf1
|
UTSW |
15 |
76,483,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R3409:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
R3410:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
R3815:Cpsf1
|
UTSW |
15 |
76,485,349 (GRCm39) |
missense |
probably benign |
0.22 |
R4030:Cpsf1
|
UTSW |
15 |
76,485,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4491:Cpsf1
|
UTSW |
15 |
76,481,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4615:Cpsf1
|
UTSW |
15 |
76,481,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5227:Cpsf1
|
UTSW |
15 |
76,483,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R5353:Cpsf1
|
UTSW |
15 |
76,486,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Cpsf1
|
UTSW |
15 |
76,481,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5552:Cpsf1
|
UTSW |
15 |
76,483,846 (GRCm39) |
missense |
probably benign |
0.27 |
R5746:Cpsf1
|
UTSW |
15 |
76,484,037 (GRCm39) |
missense |
probably benign |
0.01 |
R6319:Cpsf1
|
UTSW |
15 |
76,481,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6572:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6574:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6576:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6577:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6588:Cpsf1
|
UTSW |
15 |
76,481,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R6621:Cpsf1
|
UTSW |
15 |
76,487,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Cpsf1
|
UTSW |
15 |
76,486,739 (GRCm39) |
missense |
probably benign |
0.06 |
R6954:Cpsf1
|
UTSW |
15 |
76,483,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Cpsf1
|
UTSW |
15 |
76,480,314 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7255:Cpsf1
|
UTSW |
15 |
76,481,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Cpsf1
|
UTSW |
15 |
76,481,475 (GRCm39) |
nonsense |
probably null |
|
R7371:Cpsf1
|
UTSW |
15 |
76,484,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7446:Cpsf1
|
UTSW |
15 |
76,485,950 (GRCm39) |
missense |
probably benign |
|
R7612:Cpsf1
|
UTSW |
15 |
76,481,209 (GRCm39) |
missense |
probably benign |
0.00 |
R7739:Cpsf1
|
UTSW |
15 |
76,484,511 (GRCm39) |
missense |
probably benign |
0.00 |
R7878:Cpsf1
|
UTSW |
15 |
76,484,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Cpsf1
|
UTSW |
15 |
76,487,787 (GRCm39) |
missense |
probably benign |
0.26 |
R8345:Cpsf1
|
UTSW |
15 |
76,485,690 (GRCm39) |
missense |
probably benign |
|
R8382:Cpsf1
|
UTSW |
15 |
76,485,151 (GRCm39) |
missense |
probably benign |
|
R8403:Cpsf1
|
UTSW |
15 |
76,484,483 (GRCm39) |
missense |
probably damaging |
0.96 |
R8968:Cpsf1
|
UTSW |
15 |
76,486,169 (GRCm39) |
nonsense |
probably null |
|
R8972:Cpsf1
|
UTSW |
15 |
76,481,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R9257:Cpsf1
|
UTSW |
15 |
76,484,992 (GRCm39) |
missense |
probably benign |
|
R9627:Cpsf1
|
UTSW |
15 |
76,484,088 (GRCm39) |
missense |
probably damaging |
0.97 |
R9776:Cpsf1
|
UTSW |
15 |
76,486,779 (GRCm39) |
missense |
probably damaging |
1.00 |
X0052:Cpsf1
|
UTSW |
15 |
76,480,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACATCCCACTTTGAC -3'
(R):5'- AATGTGACTGCCTCTGGGTG -3'
Sequencing Primer
(F):5'- CACTTACGCAATGGGAAAGC -3'
(R):5'- GGTGACCTACCTGCTGCTCTAG -3'
|
Posted On |
2018-06-22 |