Incidental Mutation 'R1889:Cpsf1'
| ID |
209857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
039910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R1889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76486356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 335
(M335V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: M335V
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: M335V
| 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 benign
Transcript: ENSMUST00000230157
AA Change: M335V
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Meta Mutation Damage Score |
0.0998 |
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.2%
- 10x: 93.6%
- 20x: 88.0%
|
| Validation Efficiency |
97% (103/106) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
A |
G |
9: 89,034,815 (GRCm39) |
|
noncoding transcript |
Het |
| 9130008F23Rik |
T |
C |
17: 41,191,193 (GRCm39) |
R79G |
probably damaging |
Het |
| Aco1 |
A |
T |
4: 40,164,607 (GRCm39) |
|
probably null |
Het |
| Acp6 |
C |
T |
3: 97,073,201 (GRCm39) |
R81W |
probably damaging |
Het |
| Agbl1 |
A |
C |
7: 76,239,129 (GRCm39) |
Y543S |
probably damaging |
Het |
| Anapc7 |
T |
C |
5: 122,571,539 (GRCm39) |
W205R |
probably damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,338,886 (GRCm39) |
M532L |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,647,470 (GRCm39) |
|
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,624 (GRCm39) |
F462S |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,886 (GRCm39) |
|
probably null |
Het |
| AU015836 |
T |
C |
X: 93,012,985 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cadm2 |
T |
C |
16: 66,679,683 (GRCm39) |
D50G |
probably damaging |
Het |
| Ccdc81 |
G |
A |
7: 89,531,502 (GRCm39) |
Q324* |
probably null |
Het |
| Cd300lf |
A |
G |
11: 115,011,206 (GRCm39) |
V178A |
probably benign |
Het |
| Cdt1 |
T |
C |
8: 123,298,791 (GRCm39) |
V476A |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,796,182 (GRCm39) |
V225A |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,243,399 (GRCm39) |
T1686A |
possibly damaging |
Het |
| Cfap54 |
A |
G |
10: 92,870,572 (GRCm39) |
S684P |
possibly damaging |
Het |
| Clip1 |
C |
A |
5: 123,791,559 (GRCm39) |
V204F |
probably damaging |
Het |
| Cnpy4 |
A |
G |
5: 138,191,102 (GRCm39) |
E226G |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,433 (GRCm39) |
M1000L |
probably benign |
Het |
| Dnmt3b |
C |
A |
2: 153,518,679 (GRCm39) |
A614E |
probably benign |
Het |
| Dpm1 |
C |
T |
2: 168,059,655 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Dpp7 |
G |
T |
2: 25,243,691 (GRCm39) |
|
probably null |
Het |
| Engase |
T |
C |
11: 118,369,759 (GRCm39) |
F57S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,476,902 (GRCm39) |
D718G |
possibly damaging |
Het |
| Fam20a |
T |
C |
11: 109,564,380 (GRCm39) |
K458E |
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gkn2 |
T |
A |
6: 87,355,137 (GRCm39) |
Y115* |
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,481,926 (GRCm39) |
S246P |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,564,152 (GRCm39) |
D302G |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,839,561 (GRCm39) |
S3357L |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,060 (GRCm39) |
Y840* |
probably null |
Het |
| Hoxa10 |
GGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTG |
6: 52,211,472 (GRCm39) |
|
probably benign |
Het |
| Ift122 |
T |
C |
6: 115,871,382 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
A |
9: 21,316,063 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
A |
T |
10: 77,384,457 (GRCm39) |
N193Y |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,730,839 (GRCm39) |
I65S |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Kcnt2 |
A |
T |
1: 140,512,031 (GRCm39) |
H995L |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,918,608 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,360,211 (GRCm39) |
Y342C |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,877 (GRCm39) |
V529A |
possibly damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,383 (GRCm39) |
D475G |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,567 (GRCm39) |
Y384H |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,809,179 (GRCm39) |
C2463* |
probably null |
Het |
| Marchf6 |
T |
C |
15: 31,459,339 (GRCm39) |
E909G |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,488 (GRCm39) |
|
probably null |
Het |
| Mtrex |
T |
C |
13: 113,024,024 (GRCm39) |
N707S |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,041,560 (GRCm39) |
I212F |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,009 (GRCm39) |
E1531G |
possibly damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Opa1 |
T |
C |
16: 29,444,403 (GRCm39) |
V863A |
possibly damaging |
Het |
| Or5ac22 |
T |
G |
16: 59,135,326 (GRCm39) |
Y148S |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,798 (GRCm39) |
M282K |
probably benign |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,722,684 (GRCm39) |
D1336G |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,246,580 (GRCm39) |
V590A |
possibly damaging |
Het |
| Rbck1 |
T |
A |
2: 152,160,276 (GRCm39) |
T468S |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,877,870 (GRCm39) |
I290N |
probably damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,346 (GRCm39) |
L457P |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,351,184 (GRCm39) |
A342S |
possibly damaging |
Het |
| Sema3d |
A |
G |
5: 12,534,988 (GRCm39) |
|
probably null |
Het |
| Serpinb2 |
T |
A |
1: 107,452,337 (GRCm39) |
V305D |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,668 (GRCm39) |
V148A |
probably damaging |
Het |
| Shank2 |
C |
A |
7: 143,740,595 (GRCm39) |
S568* |
probably null |
Het |
| Slc10a4 |
T |
C |
5: 73,169,490 (GRCm39) |
S372P |
possibly damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,550 (GRCm39) |
T37A |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,152,912 (GRCm39) |
I276V |
possibly damaging |
Het |
| Slc6a20b |
G |
T |
9: 123,461,269 (GRCm39) |
D52E |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,601,182 (GRCm39) |
M661T |
probably benign |
Het |
| Ssh2 |
C |
G |
11: 77,340,571 (GRCm39) |
D574E |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,025,892 (GRCm39) |
R151L |
probably damaging |
Het |
| Sun5 |
T |
A |
2: 153,707,915 (GRCm39) |
I107L |
probably benign |
Het |
| Tacc1 |
C |
T |
8: 25,665,269 (GRCm39) |
V488M |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,614,928 (GRCm39) |
T829A |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,914,799 (GRCm39) |
E1929G |
probably damaging |
Het |
| Tssc4 |
A |
C |
7: 142,624,292 (GRCm39) |
Q200P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,588,876 (GRCm39) |
W21398R |
probably damaging |
Het |
| Usp50 |
C |
T |
2: 126,619,818 (GRCm39) |
|
probably null |
Het |
| Usp9y |
A |
T |
Y: 1,448,829 (GRCm39) |
|
probably null |
Het |
| V1rd19 |
T |
A |
7: 23,702,632 (GRCm39) |
F33I |
probably benign |
Het |
| Zfat |
T |
C |
15: 67,973,388 (GRCm39) |
T1118A |
probably benign |
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 |
|
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 |
|
R6595:Cpsf1
|
UTSW |
15 |
76,486,710 (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'- TAAGGACACTAGCAGCTGCC -3'
(R):5'- CTTTCCCATTGCGTAAGTGGGG -3'
Sequencing Primer
(F):5'- TAGCAGCTGCCTTGTCAAAG -3'
(R):5'- CATTGCGTAAGTGGGGTGCAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation