Incidental Mutation 'R7387:Cpsf1'
ID |
573212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045469-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7387 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76486766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 257
(S257T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071898
AA Change: S257T
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: S257T
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 |
possibly damaging
Transcript: ENSMUST00000230157
AA Change: S257T
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Meta Mutation Damage Score |
0.0922 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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 |
4930522H14Rik |
A |
G |
4: 109,362,774 (GRCm39) |
Y182H |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,093,246 (GRCm39) |
V1009A |
probably benign |
Het |
Abcg2 |
A |
T |
6: 58,666,609 (GRCm39) |
I573F |
possibly damaging |
Het |
Adck1 |
A |
G |
12: 88,427,822 (GRCm39) |
T480A |
probably benign |
Het |
Adcy5 |
T |
C |
16: 35,092,460 (GRCm39) |
I607T |
probably damaging |
Het |
Add2 |
A |
G |
6: 86,062,997 (GRCm39) |
K52E |
probably damaging |
Het |
Arid4a |
T |
A |
12: 71,134,270 (GRCm39) |
S1191T |
probably damaging |
Het |
Atg2a |
G |
T |
19: 6,305,198 (GRCm39) |
C1207F |
possibly damaging |
Het |
Atg2b |
T |
C |
12: 105,589,034 (GRCm39) |
D1875G |
probably damaging |
Het |
B3gntl1 |
A |
G |
11: 121,520,741 (GRCm39) |
L224P |
possibly damaging |
Het |
BC035947 |
A |
G |
1: 78,475,098 (GRCm39) |
V478A |
possibly damaging |
Het |
Cachd1 |
T |
C |
4: 100,634,375 (GRCm39) |
V17A |
unknown |
Het |
Cad |
T |
C |
5: 31,219,284 (GRCm39) |
Y669H |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,395,233 (GRCm39) |
M375L |
probably benign |
Het |
Cdc6 |
C |
T |
11: 98,799,042 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
T |
A |
9: 107,874,111 (GRCm39) |
Y72* |
probably null |
Het |
Cenpe |
T |
G |
3: 134,952,798 (GRCm39) |
M1496R |
probably benign |
Het |
Clec4a1 |
T |
G |
6: 122,899,016 (GRCm39) |
C28W |
possibly damaging |
Het |
Cma2 |
A |
G |
14: 56,210,505 (GRCm39) |
N120S |
probably benign |
Het |
Cped1 |
A |
T |
6: 22,059,933 (GRCm39) |
I200L |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,189,595 (GRCm39) |
Q18* |
probably null |
Het |
Dpp10 |
T |
C |
1: 123,268,869 (GRCm39) |
E720G |
probably benign |
Het |
Dus2 |
G |
A |
8: 106,772,619 (GRCm39) |
R243Q |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,157,932 (GRCm39) |
N769S |
possibly damaging |
Het |
Ece1 |
T |
A |
4: 137,666,095 (GRCm39) |
I313N |
possibly damaging |
Het |
Ern1 |
A |
T |
11: 106,312,778 (GRCm39) |
V201E |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,021,605 (GRCm39) |
L141P |
probably damaging |
Het |
Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
Fez1 |
T |
C |
9: 36,779,108 (GRCm39) |
F262L |
probably damaging |
Het |
H2-DMa |
T |
C |
17: 34,357,101 (GRCm39) |
Y200H |
probably damaging |
Het |
H2-Eb1 |
T |
A |
17: 34,533,207 (GRCm39) |
V143D |
probably damaging |
Het |
Ighv1-39 |
G |
A |
12: 114,878,488 (GRCm39) |
P28S |
probably benign |
Het |
Inka1 |
C |
T |
9: 107,861,626 (GRCm39) |
R230H |
probably damaging |
Het |
Iqgap1 |
C |
T |
7: 80,370,738 (GRCm39) |
V1544I |
probably benign |
Het |
Itga10 |
A |
T |
3: 96,560,094 (GRCm39) |
Q536L |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,135,319 (GRCm39) |
E24K |
possibly damaging |
Het |
Itsn2 |
A |
T |
12: 4,689,781 (GRCm39) |
N618I |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,777 (GRCm39) |
S160R |
probably benign |
Het |
Kif11 |
T |
A |
19: 37,398,204 (GRCm39) |
F677I |
probably damaging |
Het |
Ldlrad2 |
C |
T |
4: 137,301,828 (GRCm39) |
C18Y |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,306,959 (GRCm39) |
V360A |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,346,025 (GRCm39) |
T426A |
probably damaging |
Het |
Mcidas |
T |
C |
13: 113,130,622 (GRCm39) |
F40L |
probably benign |
Het |
Med27 |
T |
A |
2: 29,303,419 (GRCm39) |
L123Q |
possibly damaging |
Het |
Mettl2 |
T |
C |
11: 105,023,364 (GRCm39) |
V249A |
probably benign |
Het |
Mllt6 |
C |
A |
11: 97,565,426 (GRCm39) |
A592D |
probably benign |
Het |
Mrps5 |
C |
T |
2: 127,442,804 (GRCm39) |
T291I |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,553,016 (GRCm39) |
T4426S |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,099,715 (GRCm39) |
M542L |
probably benign |
Het |
Nlrp12 |
G |
T |
7: 3,289,831 (GRCm39) |
A227D |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,782,314 (GRCm39) |
Y504H |
probably damaging |
Het |
Nr1i2 |
T |
C |
16: 38,086,442 (GRCm39) |
S8G |
probably benign |
Het |
Ntrk2 |
A |
G |
13: 59,133,793 (GRCm39) |
K524R |
probably damaging |
Het |
Nup210 |
C |
T |
6: 90,998,378 (GRCm39) |
|
probably null |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,744 (GRCm39) |
Y272* |
probably null |
Het |
Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
Or5h27 |
A |
T |
16: 59,006,699 (GRCm39) |
I49N |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,911,094 (GRCm39) |
I525M |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,723,364 (GRCm39) |
L1277P |
probably benign |
Het |
Pelp1 |
G |
A |
11: 70,287,425 (GRCm39) |
T461I |
probably damaging |
Het |
Phf20 |
T |
C |
2: 156,136,160 (GRCm39) |
C660R |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,851,203 (GRCm39) |
Y1193F |
|
Het |
Pknox2 |
G |
T |
9: 36,868,364 (GRCm39) |
|
probably benign |
Het |
Pml |
T |
C |
9: 58,137,177 (GRCm39) |
T541A |
probably benign |
Het |
Prss35 |
C |
T |
9: 86,637,974 (GRCm39) |
T248I |
probably damaging |
Het |
Rccd1 |
T |
A |
7: 79,970,350 (GRCm39) |
N89I |
probably benign |
Het |
Rcor3 |
T |
C |
1: 191,821,824 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,131,040 (GRCm39) |
E16G |
unknown |
Het |
Scgb2b12 |
T |
A |
7: 32,026,060 (GRCm39) |
H44L |
probably benign |
Het |
Sec23ip |
C |
T |
7: 128,346,727 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
C |
5: 113,411,566 (GRCm39) |
F720C |
probably damaging |
Het |
Slc25a51 |
A |
T |
4: 45,399,841 (GRCm39) |
F116L |
possibly damaging |
Het |
Spats2l |
T |
C |
1: 57,941,293 (GRCm39) |
V253A |
probably damaging |
Het |
Spopl |
A |
T |
2: 23,427,521 (GRCm39) |
F204I |
probably benign |
Het |
Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
Stil |
T |
G |
4: 114,881,233 (GRCm39) |
H592Q |
probably benign |
Het |
Strip1 |
T |
A |
3: 107,533,046 (GRCm39) |
S201C |
probably damaging |
Het |
Tcp11l1 |
C |
A |
2: 104,530,275 (GRCm39) |
A70S |
possibly damaging |
Het |
Tmem163 |
T |
C |
1: 127,447,180 (GRCm39) |
|
probably null |
Het |
Tmem184c |
A |
T |
8: 78,324,559 (GRCm39) |
Y310* |
probably null |
Het |
Tmem30c |
T |
C |
16: 57,090,386 (GRCm39) |
N274D |
probably benign |
Het |
Trim30c |
T |
A |
7: 104,039,397 (GRCm39) |
I133F |
probably damaging |
Het |
Vars1 |
C |
T |
17: 35,223,768 (GRCm39) |
Q228* |
probably null |
Het |
Zdbf2 |
G |
A |
1: 63,343,198 (GRCm39) |
V526I |
possibly damaging |
Het |
Zfp819 |
T |
G |
7: 43,262,065 (GRCm39) |
|
probably null |
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 |
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 |
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'- CTGGTTCAGGTACAACAGTGAG -3'
(R):5'- TCCTGTTTGAGCCCAACCAG -3'
Sequencing Primer
(F):5'- TGAGTTGACAGCGAAGATCACTACC -3'
(R):5'- GTGCTCCATTGTGGCTA -3'
|
Posted On |
2019-09-13 |