Incidental Mutation 'R7255:Cpsf1'
ID |
564224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045316-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7255 (G1)
|
Quality Score |
195.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76481743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1099
(T1099M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: T1099M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: T1099M
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 |
probably benign
Transcript: ENSMUST00000160784
|
SMART Domains |
Protein: ENSMUSP00000124666 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161612
|
SMART Domains |
Protein: ENSMUSP00000124701 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
|
SMART Domains |
Protein: ENSMUSP00000125482 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
|
SMART Domains |
Protein: ENSMUSP00000125055 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: T1099M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (66/68) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
A |
G |
19: 20,692,092 (GRCm39) |
S234P |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,159,999 (GRCm39) |
H650R |
probably damaging |
Het |
Asic1 |
A |
G |
15: 99,595,338 (GRCm39) |
D355G |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,689,939 (GRCm39) |
S598C |
probably damaging |
Het |
Bcat1 |
C |
A |
6: 144,978,511 (GRCm39) |
E237* |
probably null |
Het |
Btbd16 |
A |
T |
7: 130,387,722 (GRCm39) |
I114F |
probably benign |
Het |
Casp2 |
A |
G |
6: 42,245,841 (GRCm39) |
D166G |
probably damaging |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Crisp4 |
C |
A |
1: 18,200,455 (GRCm39) |
A116S |
probably damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,366 (GRCm39) |
I168T |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,107,508 (GRCm39) |
D1407N |
probably benign |
Het |
Dnajc8 |
A |
G |
4: 132,278,884 (GRCm39) |
K201R |
probably benign |
Het |
Dock10 |
C |
T |
1: 80,520,816 (GRCm39) |
|
probably null |
Het |
Dop1b |
C |
A |
16: 93,567,034 (GRCm39) |
H1272N |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,230,330 (GRCm39) |
R325Q |
probably benign |
Het |
Enpp1 |
A |
T |
10: 24,521,213 (GRCm39) |
I838K |
possibly damaging |
Het |
Fcna |
T |
G |
2: 25,516,040 (GRCm39) |
D159A |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,445,765 (GRCm39) |
G840C |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,517,216 (GRCm39) |
A1024T |
probably damaging |
Het |
Galc |
T |
C |
12: 98,212,514 (GRCm39) |
K207R |
probably null |
Het |
Gbp2b |
T |
A |
3: 142,313,878 (GRCm39) |
L386Q |
probably damaging |
Het |
Gm8297 |
T |
A |
14: 16,165,868 (GRCm39) |
N48K |
probably damaging |
Het |
Gm9639 |
G |
A |
10: 77,630,372 (GRCm39) |
P180L |
unknown |
Het |
Inpp5a |
A |
G |
7: 139,091,364 (GRCm39) |
N116S |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,313,726 (GRCm39) |
E984G |
probably benign |
Het |
Klra4 |
A |
G |
6: 130,036,605 (GRCm39) |
F145L |
probably damaging |
Het |
Lag3 |
A |
G |
6: 124,887,198 (GRCm39) |
L123P |
probably benign |
Het |
Lyz3 |
T |
C |
10: 117,070,327 (GRCm39) |
H150R |
probably benign |
Het |
Med7 |
T |
A |
11: 46,331,822 (GRCm39) |
M139K |
probably damaging |
Het |
Mfsd2a |
A |
C |
4: 122,845,814 (GRCm39) |
L153R |
possibly damaging |
Het |
Mup9 |
A |
G |
4: 60,377,336 (GRCm39) |
V71A |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,549,169 (GRCm39) |
Q927L |
unknown |
Het |
Myo9b |
T |
C |
8: 71,743,535 (GRCm39) |
Y199H |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,353,449 (GRCm39) |
F406L |
probably benign |
Het |
Or10ag2 |
T |
A |
2: 87,249,286 (GRCm39) |
L296Q |
probably damaging |
Het |
Or10ak11 |
A |
T |
4: 118,687,149 (GRCm39) |
F162I |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,441,929 (GRCm39) |
F173L |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,720,132 (GRCm39) |
D1205E |
probably benign |
Het |
Plxna2 |
T |
G |
1: 194,434,411 (GRCm39) |
F646V |
probably benign |
Het |
Pnrc1 |
C |
T |
4: 33,248,045 (GRCm39) |
G118D |
probably benign |
Het |
Ppp1r16b |
T |
C |
2: 158,603,311 (GRCm39) |
F412S |
probably benign |
Het |
Prcc |
A |
T |
3: 87,777,398 (GRCm39) |
V192E |
probably damaging |
Het |
Psg19 |
A |
G |
7: 18,527,973 (GRCm39) |
Y257H |
probably benign |
Het |
Rfx7 |
T |
G |
9: 72,527,110 (GRCm39) |
S1433R |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Sanbr |
G |
A |
11: 23,570,465 (GRCm39) |
P145L |
probably benign |
Het |
Sbspon |
G |
T |
1: 15,954,021 (GRCm39) |
C86* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,704,729 (GRCm39) |
E230G |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,432,336 (GRCm39) |
T581A |
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,042,173 (GRCm39) |
T594K |
possibly damaging |
Het |
Shpk |
A |
G |
11: 73,090,486 (GRCm39) |
S48G |
probably benign |
Het |
Slc1a3 |
A |
G |
15: 8,672,483 (GRCm39) |
V332A |
possibly damaging |
Het |
Slc25a25 |
T |
C |
2: 32,311,384 (GRCm39) |
E135G |
possibly damaging |
Het |
Slc5a8 |
A |
T |
10: 88,745,493 (GRCm39) |
D367V |
probably damaging |
Het |
Slco1c1 |
A |
G |
6: 141,515,051 (GRCm39) |
T649A |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats1 |
T |
A |
17: 45,765,131 (GRCm39) |
D163V |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,316,419 (GRCm39) |
M304K |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,929,232 (GRCm39) |
D166E |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
Tcf7l1 |
A |
T |
6: 72,604,330 (GRCm39) |
|
probably null |
Het |
Tet1 |
A |
T |
10: 62,658,415 (GRCm39) |
M1477K |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,881 (GRCm39) |
F395S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,795,764 (GRCm39) |
L3847P |
probably damaging |
Het |
Tsks |
C |
T |
7: 44,602,112 (GRCm39) |
S276L |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,185,187 (GRCm39) |
E1519G |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,631,703 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
G |
14: 32,696,239 (GRCm39) |
V2768A |
|
Het |
Wdr26 |
A |
C |
1: 181,008,889 (GRCm39) |
I627R |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,245,749 (GRCm39) |
S100T |
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 |
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 |
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'- TCCATGATCAGGATCTGGAAGG -3'
(R):5'- TGCAGACGACAGATACATCC -3'
Sequencing Primer
(F):5'- ACGTATGGAGATGGCCCACTC -3'
(R):5'- GACGACAGATACATCCACCCC -3'
|
Posted On |
2019-06-26 |